Winship Cancer Institute

Physician, researcher, and educator H. Jean Khoury, MD, recently passed away.

He died on Monday, May 22, at the age of 50, after a year-long battle with esophageal cancer.

Dr Khoury led the division of hematology at Winship Cancer Institute of Emory University in Atlanta, Georgia.

He was considered an authority on hematologic malignancies, particularly chronic myeloid leukemia (CML), acute leukemia, and myelodysplastic syndromes (MDS).

Dr Khoury joined Winship Cancer Institute in 2004 as director of the Leukemia Service and associate professor in the Emory School of Medicine.

In 2009, he was promoted to professor and director of the Division of Hematology in the Department of Hematology and Medical Oncology, and he was later named to the R. Randall Rollins Chair in Oncology.

“We are all deeply grieving the loss of this remarkable man who gave so much to Winship,” said Walter J. Curran, Jr, MD, Winship Cancer Institute’s executive director.

“His enthusiasm and love for his patients and his commitment to lessening the burden of cancer for all has been unwavering throughout his life.”

A native of Beirut, Lebanon, Dr Khoury came to the Winship Cancer Institute from Washington University in St Louis, Missouri, where he served on the faculty after completing a fellowship in hematology-oncology.

He earned his medical degree from the Université Catholique de Louvain in Brussels, Belgium, and completed a residency in internal medicine at Memorial Medical Center in Savannah, Georgia.

Dr Khoury was recruited to Winship Cancer Institute by Fadlo R. Khuri, MD, former deputy director of the institute and now president of the American University of Beirut. What he first saw in Dr Khoury was someone who was “in the best sense, a disruptive presence.”

“What you always want in a leader is someone who’s not afraid to be wrong, to take risks,” Dr Khuri said. “Being wrong disrupts the pattern, and Jean was very brave. He didn’t like business as usual, and that showed in the way he took about redeveloping the hematology division, the leukemia program, and his interactions with the transplant division, with faculty, and all across Winship.”

According to his colleagues, Dr Khoury’s guiding principle was how to improve his patients’ lives, whether through research discoveries or through compassionate care.

Even after being diagnosed with cancer himself, Dr Khoury continued to see patients and carry on his work in the clinic and his research.

Dr Khoury pioneered the development of personalized treatment for CML patients and better approaches to improve quality of life for survivors. His research focused on drug development in leukemia and MDS, genomic abnormalities in leukemia, development of cost-effective practice models, and outcome analysis of bone marrow transplant.

He conducted several leukemia and transplant clinical trials, including trials that led to the approval of drugs such as imatinib, dasatinib, and nilotinib.

Dr Khoury received the Georgia Cancer Coalition Distinguished Cancer Scholarship, which allowed for establishment of the Hematological Disorders Tissue Bank at Emory, which now contains annotated germline and somatic samples from more than 800 patients with various hematologic disorders.

Dr Khoury died at home with his family by his side. He is survived by his wife, Angela, and 3 children, Mikhail, Iman, and Alya.

In lieu of flowers, the family requests that contributions be made to a new fund at Winship Cancer Institute that will memorialize the life and work of Dr Khoury by supporting a fellowship program that was so meaningful to him.

Contributions, marked in Memory of Dr H. Jean Khoury, can be sent to Winship Cancer Institute of Emory University, Office of Gift Records, Emory University, 1762 Clifton Rd. NE, Suite 1400, Atlanta, GA 30322. Gifts can also be made online.

There will be a memorial service for Dr Khoury on Wednesday, May 31, at 4:30 pm at Glenn Memorial Church, 1652 North Decatur Road in Atlanta, Georgia. 

Winship Cancer Institute

Physician, researcher, and educator H. Jean Khoury, MD, recently passed away.

He died on Monday, May 22, at the age of 50, after a year-long battle with esophageal cancer.

Dr Khoury led the division of hematology at Winship Cancer Institute of Emory University in Atlanta, Georgia.

He was considered an authority on hematologic malignancies, particularly chronic myeloid leukemia (CML), acute leukemia, and myelodysplastic syndromes (MDS).

Dr Khoury joined Winship Cancer Institute in 2004 as director of the Leukemia Service and associate professor in the Emory School of Medicine.

In 2009, he was promoted to professor and director of the Division of Hematology in the Department of Hematology and Medical Oncology, and he was later named to the R. Randall Rollins Chair in Oncology.

“We are all deeply grieving the loss of this remarkable man who gave so much to Winship,” said Walter J. Curran, Jr, MD, Winship Cancer Institute’s executive director.

“His enthusiasm and love for his patients and his commitment to lessening the burden of cancer for all has been unwavering throughout his life.”

A native of Beirut, Lebanon, Dr Khoury came to the Winship Cancer Institute from Washington University in St Louis, Missouri, where he served on the faculty after completing a fellowship in hematology-oncology.

He earned his medical degree from the Université Catholique de Louvain in Brussels, Belgium, and completed a residency in internal medicine at Memorial Medical Center in Savannah, Georgia.

Dr Khoury was recruited to Winship Cancer Institute by Fadlo R. Khuri, MD, former deputy director of the institute and now president of the American University of Beirut. What he first saw in Dr Khoury was someone who was “in the best sense, a disruptive presence.”

“What you always want in a leader is someone who’s not afraid to be wrong, to take risks,” Dr Khuri said. “Being wrong disrupts the pattern, and Jean was very brave. He didn’t like business as usual, and that showed in the way he took about redeveloping the hematology division, the leukemia program, and his interactions with the transplant division, with faculty, and all across Winship.”

According to his colleagues, Dr Khoury’s guiding principle was how to improve his patients’ lives, whether through research discoveries or through compassionate care.

Even after being diagnosed with cancer himself, Dr Khoury continued to see patients and carry on his work in the clinic and his research.

Dr Khoury pioneered the development of personalized treatment for CML patients and better approaches to improve quality of life for survivors. His research focused on drug development in leukemia and MDS, genomic abnormalities in leukemia, development of cost-effective practice models, and outcome analysis of bone marrow transplant.

He conducted several leukemia and transplant clinical trials, including trials that led to the approval of drugs such as imatinib, dasatinib, and nilotinib.

Dr Khoury received the Georgia Cancer Coalition Distinguished Cancer Scholarship, which allowed for establishment of the Hematological Disorders Tissue Bank at Emory, which now contains annotated germline and somatic samples from more than 800 patients with various hematologic disorders.

Dr Khoury died at home with his family by his side. He is survived by his wife, Angela, and 3 children, Mikhail, Iman, and Alya.

In lieu of flowers, the family requests that contributions be made to a new fund at Winship Cancer Institute that will memorialize the life and work of Dr Khoury by supporting a fellowship program that was so meaningful to him.

Contributions, marked in Memory of Dr H. Jean Khoury, can be sent to Winship Cancer Institute of Emory University, Office of Gift Records, Emory University, 1762 Clifton Rd. NE, Suite 1400, Atlanta, GA 30322. Gifts can also be made online.

There will be a memorial service for Dr Khoury on Wednesday, May 31, at 4:30 pm at Glenn Memorial Church, 1652 North Decatur Road in Atlanta, Georgia. 

Winship Cancer Institute

Physician, researcher, and educator H. Jean Khoury, MD, recently passed away.

He died on Monday, May 22, at the age of 50, after a year-long battle with esophageal cancer.

Dr Khoury led the division of hematology at Winship Cancer Institute of Emory University in Atlanta, Georgia.

He was considered an authority on hematologic malignancies, particularly chronic myeloid leukemia (CML), acute leukemia, and myelodysplastic syndromes (MDS).

Dr Khoury joined Winship Cancer Institute in 2004 as director of the Leukemia Service and associate professor in the Emory School of Medicine.

In 2009, he was promoted to professor and director of the Division of Hematology in the Department of Hematology and Medical Oncology, and he was later named to the R. Randall Rollins Chair in Oncology.

“We are all deeply grieving the loss of this remarkable man who gave so much to Winship,” said Walter J. Curran, Jr, MD, Winship Cancer Institute’s executive director.

“His enthusiasm and love for his patients and his commitment to lessening the burden of cancer for all has been unwavering throughout his life.”

A native of Beirut, Lebanon, Dr Khoury came to the Winship Cancer Institute from Washington University in St Louis, Missouri, where he served on the faculty after completing a fellowship in hematology-oncology.

He earned his medical degree from the Université Catholique de Louvain in Brussels, Belgium, and completed a residency in internal medicine at Memorial Medical Center in Savannah, Georgia.

Dr Khoury was recruited to Winship Cancer Institute by Fadlo R. Khuri, MD, former deputy director of the institute and now president of the American University of Beirut. What he first saw in Dr Khoury was someone who was “in the best sense, a disruptive presence.”

“What you always want in a leader is someone who’s not afraid to be wrong, to take risks,” Dr Khuri said. “Being wrong disrupts the pattern, and Jean was very brave. He didn’t like business as usual, and that showed in the way he took about redeveloping the hematology division, the leukemia program, and his interactions with the transplant division, with faculty, and all across Winship.”

According to his colleagues, Dr Khoury’s guiding principle was how to improve his patients’ lives, whether through research discoveries or through compassionate care.

Even after being diagnosed with cancer himself, Dr Khoury continued to see patients and carry on his work in the clinic and his research.

Dr Khoury pioneered the development of personalized treatment for CML patients and better approaches to improve quality of life for survivors. His research focused on drug development in leukemia and MDS, genomic abnormalities in leukemia, development of cost-effective practice models, and outcome analysis of bone marrow transplant.

He conducted several leukemia and transplant clinical trials, including trials that led to the approval of drugs such as imatinib, dasatinib, and nilotinib.

Dr Khoury received the Georgia Cancer Coalition Distinguished Cancer Scholarship, which allowed for establishment of the Hematological Disorders Tissue Bank at Emory, which now contains annotated germline and somatic samples from more than 800 patients with various hematologic disorders.

Dr Khoury died at home with his family by his side. He is survived by his wife, Angela, and 3 children, Mikhail, Iman, and Alya.

In lieu of flowers, the family requests that contributions be made to a new fund at Winship Cancer Institute that will memorialize the life and work of Dr Khoury by supporting a fellowship program that was so meaningful to him.

Contributions, marked in Memory of Dr H. Jean Khoury, can be sent to Winship Cancer Institute of Emory University, Office of Gift Records, Emory University, 1762 Clifton Rd. NE, Suite 1400, Atlanta, GA 30322. Gifts can also be made online.

There will be a memorial service for Dr Khoury on Wednesday, May 31, at 4:30 pm at Glenn Memorial Church, 1652 North Decatur Road in Atlanta, Georgia. 

Photo by Ricardo Funari

Researchers say they have uncovered the origin of Zika virus in Brazil and tracked the spread of the virus across the country.

The team traveled across northeast Brazil in a mobile genomics lab, analyzing samples from Zika patients.

The researchers found that Zika’s establishment within Brazil—and its spread from there to other regions—occurred before Zika transmission in the Americas was first discovered.

The team reported their findings in Nature.

To gain insight into the epidemiology and evolution of Zika virus, the researchers traveled 2000 km across northeast Brazil in June of last year. The team traveled in a minibus equipped with mobile DNA sequencing capabilities and tested samples from more than 1300 patients infected with the virus.

“Despite there being probably millions of cases of the Zika virus in Brazil, there was only a handful of known virus genomes prior to our work,” said Nuno Faria, PhD, of the University of Oxford in the UK.

“A better understanding of Zika virus genetic diversity is critical to vaccine design and also to identify areas where surveillance is most needed.”

“We generated Zika virus genomes to establish the virus epidemic history in the Americas,” said Oliver Pybus, DPhil, also of the University of Oxford.

“We showed that the virus was present in Brazil for a full year prior to the first confirmed cases in May 2015. We also found that northeast Brazil, which was the region with the most recorded cases of Zika and microcephaly, was the nexus of the epidemic in Brazil and played a key role in its spread within Brazil to major urban centers, such as Rio de Janeiro and São Paulo, before spreading across the Americas. We now have a better understanding of the epidemiology of the virus.”

During the genome sequencing journey across Brazil, the researchers used the portable MinION DNA sequencer from the company Oxford Nanopore Technologies, which started as an Oxford University spinout company. The device weighs less than 100 g and is powered by the USB port of a laptop.

“Genome sequencing has become a powerful tool for studying emerging infectious diseases,” said Nick Loman, PhD, of the University of Birmingham in the UK.

“However, genome sequencing directly from clinical samples without isolation remains challenging for viruses such as Zika. We developed a new protocol that allows for real-time genomic sequencing—something of vital importance when managing viral outbreaks, as it can provide real insight into how a virus is spreading, transmitting and evolving.”

“What’s more, using equipment like portable nanopore sequencing, we were able to carry out emergency epidemiological research more quickly, to get immediate results when working in the field, as on the road in Brazil. This new protocol will doubtless prove hugely beneficial to researchers working in remote areas around the world during times of viral outbreaks.” 

Photo by Ricardo Funari

Researchers say they have uncovered the origin of Zika virus in Brazil and tracked the spread of the virus across the country.

The team traveled across northeast Brazil in a mobile genomics lab, analyzing samples from Zika patients.

The researchers found that Zika’s establishment within Brazil—and its spread from there to other regions—occurred before Zika transmission in the Americas was first discovered.

The team reported their findings in Nature.

To gain insight into the epidemiology and evolution of Zika virus, the researchers traveled 2000 km across northeast Brazil in June of last year. The team traveled in a minibus equipped with mobile DNA sequencing capabilities and tested samples from more than 1300 patients infected with the virus.

“Despite there being probably millions of cases of the Zika virus in Brazil, there was only a handful of known virus genomes prior to our work,” said Nuno Faria, PhD, of the University of Oxford in the UK.

“A better understanding of Zika virus genetic diversity is critical to vaccine design and also to identify areas where surveillance is most needed.”

“We generated Zika virus genomes to establish the virus epidemic history in the Americas,” said Oliver Pybus, DPhil, also of the University of Oxford.

“We showed that the virus was present in Brazil for a full year prior to the first confirmed cases in May 2015. We also found that northeast Brazil, which was the region with the most recorded cases of Zika and microcephaly, was the nexus of the epidemic in Brazil and played a key role in its spread within Brazil to major urban centers, such as Rio de Janeiro and São Paulo, before spreading across the Americas. We now have a better understanding of the epidemiology of the virus.”

During the genome sequencing journey across Brazil, the researchers used the portable MinION DNA sequencer from the company Oxford Nanopore Technologies, which started as an Oxford University spinout company. The device weighs less than 100 g and is powered by the USB port of a laptop.

“Genome sequencing has become a powerful tool for studying emerging infectious diseases,” said Nick Loman, PhD, of the University of Birmingham in the UK.

“However, genome sequencing directly from clinical samples without isolation remains challenging for viruses such as Zika. We developed a new protocol that allows for real-time genomic sequencing—something of vital importance when managing viral outbreaks, as it can provide real insight into how a virus is spreading, transmitting and evolving.”

“What’s more, using equipment like portable nanopore sequencing, we were able to carry out emergency epidemiological research more quickly, to get immediate results when working in the field, as on the road in Brazil. This new protocol will doubtless prove hugely beneficial to researchers working in remote areas around the world during times of viral outbreaks.” 

Photo by Ricardo Funari

Researchers say they have uncovered the origin of Zika virus in Brazil and tracked the spread of the virus across the country.

The team traveled across northeast Brazil in a mobile genomics lab, analyzing samples from Zika patients.

The researchers found that Zika’s establishment within Brazil—and its spread from there to other regions—occurred before Zika transmission in the Americas was first discovered.

The team reported their findings in Nature.

To gain insight into the epidemiology and evolution of Zika virus, the researchers traveled 2000 km across northeast Brazil in June of last year. The team traveled in a minibus equipped with mobile DNA sequencing capabilities and tested samples from more than 1300 patients infected with the virus.

“Despite there being probably millions of cases of the Zika virus in Brazil, there was only a handful of known virus genomes prior to our work,” said Nuno Faria, PhD, of the University of Oxford in the UK.

“A better understanding of Zika virus genetic diversity is critical to vaccine design and also to identify areas where surveillance is most needed.”

“We generated Zika virus genomes to establish the virus epidemic history in the Americas,” said Oliver Pybus, DPhil, also of the University of Oxford.

“We showed that the virus was present in Brazil for a full year prior to the first confirmed cases in May 2015. We also found that northeast Brazil, which was the region with the most recorded cases of Zika and microcephaly, was the nexus of the epidemic in Brazil and played a key role in its spread within Brazil to major urban centers, such as Rio de Janeiro and São Paulo, before spreading across the Americas. We now have a better understanding of the epidemiology of the virus.”

During the genome sequencing journey across Brazil, the researchers used the portable MinION DNA sequencer from the company Oxford Nanopore Technologies, which started as an Oxford University spinout company. The device weighs less than 100 g and is powered by the USB port of a laptop.

“Genome sequencing has become a powerful tool for studying emerging infectious diseases,” said Nick Loman, PhD, of the University of Birmingham in the UK.

“However, genome sequencing directly from clinical samples without isolation remains challenging for viruses such as Zika. We developed a new protocol that allows for real-time genomic sequencing—something of vital importance when managing viral outbreaks, as it can provide real insight into how a virus is spreading, transmitting and evolving.”

“What’s more, using equipment like portable nanopore sequencing, we were able to carry out emergency epidemiological research more quickly, to get immediate results when working in the field, as on the road in Brazil. This new protocol will doubtless prove hugely beneficial to researchers working in remote areas around the world during times of viral outbreaks.” 

A meal and conversation with Rep. Paul Ryan (R-WI), Speaker of the U.S. House of Representatives. An existing relationship with Dr. Tom Price, now secretary of the U.S. Department of Health & Human Services. Working relationships with others in office who make national health care decisions affecting SVS members. Such benefits happen because of the SVS Political Action Committee.

The SVS PAC works for vascular surgeons – ONLY vascular surgeons – to ensure SVS access to U.S. representatives and senators to discuss issues that have a major impact on members and their patients. Contributions help elect or re-elect candidates who can be helpful with such issues.

The SVS PAC will hold a reception and “thank you” for those donors who have contributed to the PAC since Jan. 1, 2016. This includes donations received during the 2017 Vascular Annual Meeting.

The reception will be held from 7:00 to 8:30 p.m. Thursday, June 1, in the La Costa Room at the Marriott Marquis.

Contributions are critically important to the future of members, their profession and their practices, PAC leaders say.

“A good offense – great advocacy – is the best defense when confronted with so many unknowns today,” said Carlo A. Dall’Olmo, former SVS PAC chair. “The challenges are obvious, and they are present on both sides of the aisle. … (contributions) to the SVS/PAC will allow us to advocate at every opportunity.”

Thursday, June 1

7:00 – 8:30 p.m.

Marriott Marquis, La Costa Room

South Tower, fourth floor

PAC Reception

A meal and conversation with Rep. Paul Ryan (R-WI), Speaker of the U.S. House of Representatives. An existing relationship with Dr. Tom Price, now secretary of the U.S. Department of Health & Human Services. Working relationships with others in office who make national health care decisions affecting SVS members. Such benefits happen because of the SVS Political Action Committee.

The SVS PAC works for vascular surgeons – ONLY vascular surgeons – to ensure SVS access to U.S. representatives and senators to discuss issues that have a major impact on members and their patients. Contributions help elect or re-elect candidates who can be helpful with such issues.

The SVS PAC will hold a reception and “thank you” for those donors who have contributed to the PAC since Jan. 1, 2016. This includes donations received during the 2017 Vascular Annual Meeting.

The reception will be held from 7:00 to 8:30 p.m. Thursday, June 1, in the La Costa Room at the Marriott Marquis.

Contributions are critically important to the future of members, their profession and their practices, PAC leaders say.

“A good offense – great advocacy – is the best defense when confronted with so many unknowns today,” said Carlo A. Dall’Olmo, former SVS PAC chair. “The challenges are obvious, and they are present on both sides of the aisle. … (contributions) to the SVS/PAC will allow us to advocate at every opportunity.”

Thursday, June 1

7:00 – 8:30 p.m.

Marriott Marquis, La Costa Room

South Tower, fourth floor

PAC Reception

A meal and conversation with Rep. Paul Ryan (R-WI), Speaker of the U.S. House of Representatives. An existing relationship with Dr. Tom Price, now secretary of the U.S. Department of Health & Human Services. Working relationships with others in office who make national health care decisions affecting SVS members. Such benefits happen because of the SVS Political Action Committee.

The SVS PAC works for vascular surgeons – ONLY vascular surgeons – to ensure SVS access to U.S. representatives and senators to discuss issues that have a major impact on members and their patients. Contributions help elect or re-elect candidates who can be helpful with such issues.

The SVS PAC will hold a reception and “thank you” for those donors who have contributed to the PAC since Jan. 1, 2016. This includes donations received during the 2017 Vascular Annual Meeting.

The reception will be held from 7:00 to 8:30 p.m. Thursday, June 1, in the La Costa Room at the Marriott Marquis.

Contributions are critically important to the future of members, their profession and their practices, PAC leaders say.

“A good offense – great advocacy – is the best defense when confronted with so many unknowns today,” said Carlo A. Dall’Olmo, former SVS PAC chair. “The challenges are obvious, and they are present on both sides of the aisle. … (contributions) to the SVS/PAC will allow us to advocate at every opportunity.”

Thursday, June 1

7:00 – 8:30 p.m.

Marriott Marquis, La Costa Room

South Tower, fourth floor

PAC Reception

Arterial stiffening is not an inevitable part of aging and did not occur in 18% of 3,196 men and women aged 50 and older participating in certain cohorts of the Framingham Heart Study, according to a report published online May 30 in Hypertension.

Researchers studied healthy vascular aging – the absence of age-related increases in arterial stiffness and blood pressure – using data collected from 3,196 older adults (mean age, 62 years) participating in the 1998-2001, the 2005-2008, the Offspring, and the Third-Generation cohorts of the Framingham Heart Study. Aortic pulse wave velocity was used as a surrogate marker for arterial stiffness, said Teemu J. Niiranen, MD, PhD, and his associates in the Framingham Heart Study.

Overall, 566 men and women (17.7%) showed healthy vascular aging. The prevalence of healthy vascular aging was 30.3% in people aged 50-59 years, 7.4% in those aged 60-69 years, and 1% in those aged 70 years and older. The cardiovascular risk factors most strongly associated with healthy vascular aging were a low body mass index, an absence of diabetes, and the use of lipid-lowering therapy, Dr. Niiranen and his associates said (Hypertens. 2017 May 30. doi: 10.1161/hypertensionaha.117.09026).

During a mean follow-up of 10 years, 391 study participants developed cardiovascular disease. People with healthy vascular aging were at substantially lower risk than were other participants for CVD (hazard ratio, 0.34), even after the data were adjusted to account for other traditional CVD risk factors. This highlights the importance of arterial stiffness in the pathogenesis of CVD, they added.

Although there are no specific therapies to prevent or treat arterial stiffening at this time, it seems reasonable that standard lifestyle changes and treatments aimed at reducing CVD – particularly maintaining a healthy weight, staving off diabetes, and using lipid-lowering medications – may prevent or delay arterial stiffening, Dr. Niiranen and his associates said.

The National Heart, Lung, and Blood Institutes’s Framingham Heart Study, the National Institutes of Health, and Boston University supported this work. Dr. Niiranen reported having no relevant financial disclosures; one of his associates reported owning Cardiovascular Engineering, Inc., which develops and manufactures devices to measure vascular stiffness, as well as having ties to Merck, Novartis, Philips, and Servier.

Arterial stiffening is not an inevitable part of aging and did not occur in 18% of 3,196 men and women aged 50 and older participating in certain cohorts of the Framingham Heart Study, according to a report published online May 30 in Hypertension.

Researchers studied healthy vascular aging – the absence of age-related increases in arterial stiffness and blood pressure – using data collected from 3,196 older adults (mean age, 62 years) participating in the 1998-2001, the 2005-2008, the Offspring, and the Third-Generation cohorts of the Framingham Heart Study. Aortic pulse wave velocity was used as a surrogate marker for arterial stiffness, said Teemu J. Niiranen, MD, PhD, and his associates in the Framingham Heart Study.

Overall, 566 men and women (17.7%) showed healthy vascular aging. The prevalence of healthy vascular aging was 30.3% in people aged 50-59 years, 7.4% in those aged 60-69 years, and 1% in those aged 70 years and older. The cardiovascular risk factors most strongly associated with healthy vascular aging were a low body mass index, an absence of diabetes, and the use of lipid-lowering therapy, Dr. Niiranen and his associates said (Hypertens. 2017 May 30. doi: 10.1161/hypertensionaha.117.09026).

During a mean follow-up of 10 years, 391 study participants developed cardiovascular disease. People with healthy vascular aging were at substantially lower risk than were other participants for CVD (hazard ratio, 0.34), even after the data were adjusted to account for other traditional CVD risk factors. This highlights the importance of arterial stiffness in the pathogenesis of CVD, they added.

Although there are no specific therapies to prevent or treat arterial stiffening at this time, it seems reasonable that standard lifestyle changes and treatments aimed at reducing CVD – particularly maintaining a healthy weight, staving off diabetes, and using lipid-lowering medications – may prevent or delay arterial stiffening, Dr. Niiranen and his associates said.

The National Heart, Lung, and Blood Institutes’s Framingham Heart Study, the National Institutes of Health, and Boston University supported this work. Dr. Niiranen reported having no relevant financial disclosures; one of his associates reported owning Cardiovascular Engineering, Inc., which develops and manufactures devices to measure vascular stiffness, as well as having ties to Merck, Novartis, Philips, and Servier.

Arterial stiffening is not an inevitable part of aging and did not occur in 18% of 3,196 men and women aged 50 and older participating in certain cohorts of the Framingham Heart Study, according to a report published online May 30 in Hypertension.

Researchers studied healthy vascular aging – the absence of age-related increases in arterial stiffness and blood pressure – using data collected from 3,196 older adults (mean age, 62 years) participating in the 1998-2001, the 2005-2008, the Offspring, and the Third-Generation cohorts of the Framingham Heart Study. Aortic pulse wave velocity was used as a surrogate marker for arterial stiffness, said Teemu J. Niiranen, MD, PhD, and his associates in the Framingham Heart Study.

Overall, 566 men and women (17.7%) showed healthy vascular aging. The prevalence of healthy vascular aging was 30.3% in people aged 50-59 years, 7.4% in those aged 60-69 years, and 1% in those aged 70 years and older. The cardiovascular risk factors most strongly associated with healthy vascular aging were a low body mass index, an absence of diabetes, and the use of lipid-lowering therapy, Dr. Niiranen and his associates said (Hypertens. 2017 May 30. doi: 10.1161/hypertensionaha.117.09026).

During a mean follow-up of 10 years, 391 study participants developed cardiovascular disease. People with healthy vascular aging were at substantially lower risk than were other participants for CVD (hazard ratio, 0.34), even after the data were adjusted to account for other traditional CVD risk factors. This highlights the importance of arterial stiffness in the pathogenesis of CVD, they added.

Although there are no specific therapies to prevent or treat arterial stiffening at this time, it seems reasonable that standard lifestyle changes and treatments aimed at reducing CVD – particularly maintaining a healthy weight, staving off diabetes, and using lipid-lowering medications – may prevent or delay arterial stiffening, Dr. Niiranen and his associates said.

The National Heart, Lung, and Blood Institutes’s Framingham Heart Study, the National Institutes of Health, and Boston University supported this work. Dr. Niiranen reported having no relevant financial disclosures; one of his associates reported owning Cardiovascular Engineering, Inc., which develops and manufactures devices to measure vascular stiffness, as well as having ties to Merck, Novartis, Philips, and Servier.

WASHINGTON – Researchers have devised a program that can predict severe sepsis or septic shock about 12-30 hours in advance of its onset in hospitalized patients, a feat they hope will allow them to apply early interventions to stave off impending sepsis.

“We’d love to see a change in sepsis mortality. Will earlier recognition and implementation of the sepsis bundle – fluids, antibiotics, etc. – improve outcomes?” wondered Heather M. Giannini, MD, in a video interview at an international conference of the American Thoracic Society.

The computer program works by monitoring all the data that enter a patient’s electronic health record during hospitalization. Researchers developed it and designed it specifically for inpatients who are not in the intensive care unit or emergency department.

Results from initial testing during October-December 2015 in 10,448 patients hospitalized at one of three participating Philadelphia hospitals showed the program predicted subsequent severe sepsis or septic shock with a sensitivity of 26% and a specificity of 98%, reported Dr. Giannini, a researcher in the Center for Evidence-Based Practice at the University of Pennsylvania in Philadelphia. Analysis also showed a positive likelihood ratio of 13 for severe sepsis or septic shock actually occurring following an alert generated by the computer program, a level indicating a “very strong” ability to predict sepsis, she said.

Dr. Giannini and her associates developed the prediction program using a technique called “computational machine learning,” an alternative to standard logistic regression modeling that is better suited to analyzing large data sets and can better integrate outlier data points. They took EHR data for all non-ICU, non-ED inpatients at three Philadelphia hospitals during a 3-year period during 2011-2014 and had the program focus particularly on EHR data gleaned from the nearly 1,000 patients who developed severe sepsis or septic shock during the 12 hours preceding the start of these sepsis events. The analysis identified patients as having developed severe sepsis or shock if they had a blood draw positive for infection at the same time as having a blood lactate level above 2.2 mmol/L or a systolic blood pressure below 90 mm Hg.

To create the algorithm the machine-learning device compared the EHR entries for patients who developed severe sepsis or septic shock with EHR data from patients who did not, a process that involved hundred of thousands of data points, Dr. Giannini said. This identified 587 individual types of relevant EHR data entries and ranked them from most important to least important. Important, novel determinants of impending severe sepsis identified this way included anion gap, blood urea nitrogen, and platelet count. The development process also confirmed an important role for many classic markers of septic shock, such as respiration rate, heart rate, and temperature.

The researchers designed the algorithm to have a moderate level of sensitivity to avoid “alert fatigue” from generating too many alarms for impending severe sepsis. Their goal was for clinicians to receive no more than about 10 alerts per day for each hospital.

“We are satisfied with the sensitivity. We felt it was better to have too few alerts rather than overwhelm clinicians. About 10 alerts a day is reasonable,” Dr. Giannini explained. During initial 2015 testing, the system generated a daily average of 11 alerts.

[email protected]

On Twitter @mitchelzoler

WASHINGTON – Researchers have devised a program that can predict severe sepsis or septic shock about 12-30 hours in advance of its onset in hospitalized patients, a feat they hope will allow them to apply early interventions to stave off impending sepsis.

“We’d love to see a change in sepsis mortality. Will earlier recognition and implementation of the sepsis bundle – fluids, antibiotics, etc. – improve outcomes?” wondered Heather M. Giannini, MD, in a video interview at an international conference of the American Thoracic Society.

The computer program works by monitoring all the data that enter a patient’s electronic health record during hospitalization. Researchers developed it and designed it specifically for inpatients who are not in the intensive care unit or emergency department.

Results from initial testing during October-December 2015 in 10,448 patients hospitalized at one of three participating Philadelphia hospitals showed the program predicted subsequent severe sepsis or septic shock with a sensitivity of 26% and a specificity of 98%, reported Dr. Giannini, a researcher in the Center for Evidence-Based Practice at the University of Pennsylvania in Philadelphia. Analysis also showed a positive likelihood ratio of 13 for severe sepsis or septic shock actually occurring following an alert generated by the computer program, a level indicating a “very strong” ability to predict sepsis, she said.

Dr. Giannini and her associates developed the prediction program using a technique called “computational machine learning,” an alternative to standard logistic regression modeling that is better suited to analyzing large data sets and can better integrate outlier data points. They took EHR data for all non-ICU, non-ED inpatients at three Philadelphia hospitals during a 3-year period during 2011-2014 and had the program focus particularly on EHR data gleaned from the nearly 1,000 patients who developed severe sepsis or septic shock during the 12 hours preceding the start of these sepsis events. The analysis identified patients as having developed severe sepsis or shock if they had a blood draw positive for infection at the same time as having a blood lactate level above 2.2 mmol/L or a systolic blood pressure below 90 mm Hg.

To create the algorithm the machine-learning device compared the EHR entries for patients who developed severe sepsis or septic shock with EHR data from patients who did not, a process that involved hundred of thousands of data points, Dr. Giannini said. This identified 587 individual types of relevant EHR data entries and ranked them from most important to least important. Important, novel determinants of impending severe sepsis identified this way included anion gap, blood urea nitrogen, and platelet count. The development process also confirmed an important role for many classic markers of septic shock, such as respiration rate, heart rate, and temperature.

The researchers designed the algorithm to have a moderate level of sensitivity to avoid “alert fatigue” from generating too many alarms for impending severe sepsis. Their goal was for clinicians to receive no more than about 10 alerts per day for each hospital.

“We are satisfied with the sensitivity. We felt it was better to have too few alerts rather than overwhelm clinicians. About 10 alerts a day is reasonable,” Dr. Giannini explained. During initial 2015 testing, the system generated a daily average of 11 alerts.

[email protected]

On Twitter @mitchelzoler

WASHINGTON – Researchers have devised a program that can predict severe sepsis or septic shock about 12-30 hours in advance of its onset in hospitalized patients, a feat they hope will allow them to apply early interventions to stave off impending sepsis.

“We’d love to see a change in sepsis mortality. Will earlier recognition and implementation of the sepsis bundle – fluids, antibiotics, etc. – improve outcomes?” wondered Heather M. Giannini, MD, in a video interview at an international conference of the American Thoracic Society.

The computer program works by monitoring all the data that enter a patient’s electronic health record during hospitalization. Researchers developed it and designed it specifically for inpatients who are not in the intensive care unit or emergency department.

Results from initial testing during October-December 2015 in 10,448 patients hospitalized at one of three participating Philadelphia hospitals showed the program predicted subsequent severe sepsis or septic shock with a sensitivity of 26% and a specificity of 98%, reported Dr. Giannini, a researcher in the Center for Evidence-Based Practice at the University of Pennsylvania in Philadelphia. Analysis also showed a positive likelihood ratio of 13 for severe sepsis or septic shock actually occurring following an alert generated by the computer program, a level indicating a “very strong” ability to predict sepsis, she said.

Dr. Giannini and her associates developed the prediction program using a technique called “computational machine learning,” an alternative to standard logistic regression modeling that is better suited to analyzing large data sets and can better integrate outlier data points. They took EHR data for all non-ICU, non-ED inpatients at three Philadelphia hospitals during a 3-year period during 2011-2014 and had the program focus particularly on EHR data gleaned from the nearly 1,000 patients who developed severe sepsis or septic shock during the 12 hours preceding the start of these sepsis events. The analysis identified patients as having developed severe sepsis or shock if they had a blood draw positive for infection at the same time as having a blood lactate level above 2.2 mmol/L or a systolic blood pressure below 90 mm Hg.

To create the algorithm the machine-learning device compared the EHR entries for patients who developed severe sepsis or septic shock with EHR data from patients who did not, a process that involved hundred of thousands of data points, Dr. Giannini said. This identified 587 individual types of relevant EHR data entries and ranked them from most important to least important. Important, novel determinants of impending severe sepsis identified this way included anion gap, blood urea nitrogen, and platelet count. The development process also confirmed an important role for many classic markers of septic shock, such as respiration rate, heart rate, and temperature.

The researchers designed the algorithm to have a moderate level of sensitivity to avoid “alert fatigue” from generating too many alarms for impending severe sepsis. Their goal was for clinicians to receive no more than about 10 alerts per day for each hospital.

“We are satisfied with the sensitivity. We felt it was better to have too few alerts rather than overwhelm clinicians. About 10 alerts a day is reasonable,” Dr. Giannini explained. During initial 2015 testing, the system generated a daily average of 11 alerts.

[email protected]

On Twitter @mitchelzoler

Adolescence is a time of rapid growth and development both physically and emotionally. Some of the major tasks of adolescent development include developing a stable identity (this includes sexual and gender identity) and establishing independence from parents. This separation process from parents is often buffered by peer relationships. By the end of adolescence, those who are healthy and mature in their sexuality are able to:^1,2,3

•  Identify and live according to their own values and take responsibility for their behavior.

•  Practice effective decision-making, and develop critical-thinking skills.

•  Affirm that human development includes sexual development, which may or may not include reproduction or sexual experience.

•  Seek further information about sexuality and reproduction as needed and make informed choices about family options and relationships.

•  Interact with all genders in respectful and appropriate ways.

•  Affirm their own gender identity and sexual orientation, and respect the gender identities and sexual orientations of others.

•  Appreciate their body and enjoy their sexuality throughout life, expressing sexuality in ways that are congruent with their values.

•  Express love and intimacy in appropriate ways.

•  Develop and maintain meaningful relationships, avoiding exploitative or manipulative relationships.

•  Exhibit skills and communication that enhance personal relationships with family, peers, and romantic partners.

Anywhere from 5% to 10% of teens identify as lesbian, gay, or bisexual (LGB).⁴ For these teens, the development of a sexual identity can add additional challenges to the development process, particularly if youth do not feel supported by family, peers, and their communities. Previous columns have addressed the role family acceptance can play in promoting the healthy development of sexual minority youth. Likewise, peer relationships also can play an important role in an adolescent’s development and health.

•  Acceptance.

•  Competence.

•  Higher levels of self-esteem and psychological well-being.

•  Strong sense of self and self-acceptance.

•  Strong ethnic identification.

•  Strong connections to family and school.

•  Caring adult role models outside the family.

•  Community involvement.

For some youth who may not be able receive acceptance from their families, peers and trusted adults may fill in this role and serve as a “chosen family.” A chosen family is commonly understood to mean a group of people who deliberately chose one another to play significant roles in each other’s lives even though they are not biologically or legally related. These relationships may be in addition to or in place of traditional family relationships. These connections can increase a youth’s sense of acceptance and connectedness and help promote resiliency.

Adolescents often may struggle on the decision of when to “come out” or disclose their sexual orientation to friends and family, and may ask their health care providers for advice. The number one consideration when making a decision about disclosure is safety. Unfortunately, some family members and peers may not react in a supportive manner to a youth’s disclosure, and disclosure may result in being kicked out, financial coercion, bullying, physical violence, or alienation. In these cases, youth may choose to delay disclosure until they are in a more supportive environment, and health care providers can play an important role in validating and affirming patients’ identities and maintaining confidentiality as appropriate. LGB youth should be counseled to consider the when, who, and how of their disclosure. They also should plan for how they might deal with a negative or rejecting response. Some tips are included below.⁵

When

•  You are ready.

•  You are comfortable with your identity.

•  You want to share information with people you trust and are close to.

•  You have a plan for support if you are not accepted (particularly when coming out to family).

Who

•  Someone you know well and expect to be supportive.

•  Someone you trust, feel safe with, and who can keep information confidential if needed (may need to explore school’s privacy and confidentiality policies if disclosing to a teacher or school personnel).

•  Be clear about who else information may be shared with and who NOT to share with.

How

•  Be sure you are prepared. You may want to talk to other sexual minority youth or adults who have come out, attend LGBTQ groups/forums, or seek out Internet resources to learn about others’ coming out experiences. These sources may serve as a support for you should you experience any negative or rejecting responses.

•  Make sure you have support resources in place prior to coming out.

•  Coming out by letter allows you time to carefully word what you want to say, and allows the other person time and privacy to consider their response.

•  If coming out in person, try to choose a quiet private space, and try to choose a time when everyone is relaxed and well-rested.

•  If concerned about your safety, make sure other people are immediately accessible if needed.

•  Plan what you are going to say, how you might end the conversation, and how you may want to talk about it later.

•  Listen actively to what the other person has to say.

•  Avoid any alcohol or drugs, as these may affect your mental and emotional state and responses.

•  Avoid coming out because of pressure from others or because you are angry.

Youth should be reminded that people’s responses may not always be predictable. It is important to note that for many individuals, coming out may be a lifelong process and occur in stages, beginning with close friends or family members and progressing from there. In the age of social media, youth should be reminded that disclosures through social media may be widely accessible, are easily shared, and may be difficult to remove. For youth who do not have supportive peer groups, and may not be able to disclose their sexual identity, providing support resources can be helpful.
 

Dr. Chelvakumar is an attending physician in the division of adolescent medicine at Nationwide Children’s Hospital and an assistant professor of clinical pediatrics at the Ohio State University, both in Columbus. She has no relevant financial disclosures. Email her at [email protected].

Resources for sexual minority youth and peers/families

Gay-Straight Alliance Network: gsanetwork.org

Gay Lesbian Straight Education Network: Information for Students: glsen.org/students

Sexuality Information and Education Council of the United States: www.siecus.org

The Trevor Project: Help and Suicide Prevention: www.thetrevorproject.org

It Gets Better Project: http://www.itgetsbetter.org/

Family and Ally Organization: PFLAG: https://www.pflag.org/

Advocates for Youth Parent Tips: http://www.advocatesforyouth.org/parents/173-parents

References

1. “Adolescent Sexuality,” by Michelle Forcier, MD, in Up to Date. Updated March 2017.

2. Pediatrics. 2016 Aug;138(2). pii: e20161348.

3. The Guidelines for Comprehensive Sexuality Education: Grades K-12 (Washington, D.C.: Sexuality Information and Education Council of the United States, 2004).

4. MMWR Surveillance Summaries, 2016, Aug 12;65(9):1-202.

5. “Sexual minority youth: Epidemiology and health concerns,” by Michelle Forcier, MD, and Johanna Olson-Kennedy, MD, in Up to Date.
 

Adolescence is a time of rapid growth and development both physically and emotionally. Some of the major tasks of adolescent development include developing a stable identity (this includes sexual and gender identity) and establishing independence from parents. This separation process from parents is often buffered by peer relationships. By the end of adolescence, those who are healthy and mature in their sexuality are able to:^1,2,3

•  Identify and live according to their own values and take responsibility for their behavior.

•  Practice effective decision-making, and develop critical-thinking skills.

•  Affirm that human development includes sexual development, which may or may not include reproduction or sexual experience.

•  Seek further information about sexuality and reproduction as needed and make informed choices about family options and relationships.

•  Interact with all genders in respectful and appropriate ways.

•  Affirm their own gender identity and sexual orientation, and respect the gender identities and sexual orientations of others.

•  Appreciate their body and enjoy their sexuality throughout life, expressing sexuality in ways that are congruent with their values.

•  Express love and intimacy in appropriate ways.

•  Develop and maintain meaningful relationships, avoiding exploitative or manipulative relationships.

•  Exhibit skills and communication that enhance personal relationships with family, peers, and romantic partners.

Anywhere from 5% to 10% of teens identify as lesbian, gay, or bisexual (LGB).⁴ For these teens, the development of a sexual identity can add additional challenges to the development process, particularly if youth do not feel supported by family, peers, and their communities. Previous columns have addressed the role family acceptance can play in promoting the healthy development of sexual minority youth. Likewise, peer relationships also can play an important role in an adolescent’s development and health.

•  Acceptance.

•  Competence.

•  Higher levels of self-esteem and psychological well-being.

•  Strong sense of self and self-acceptance.

•  Strong ethnic identification.

•  Strong connections to family and school.

•  Caring adult role models outside the family.

•  Community involvement.

For some youth who may not be able receive acceptance from their families, peers and trusted adults may fill in this role and serve as a “chosen family.” A chosen family is commonly understood to mean a group of people who deliberately chose one another to play significant roles in each other’s lives even though they are not biologically or legally related. These relationships may be in addition to or in place of traditional family relationships. These connections can increase a youth’s sense of acceptance and connectedness and help promote resiliency.

Adolescents often may struggle on the decision of when to “come out” or disclose their sexual orientation to friends and family, and may ask their health care providers for advice. The number one consideration when making a decision about disclosure is safety. Unfortunately, some family members and peers may not react in a supportive manner to a youth’s disclosure, and disclosure may result in being kicked out, financial coercion, bullying, physical violence, or alienation. In these cases, youth may choose to delay disclosure until they are in a more supportive environment, and health care providers can play an important role in validating and affirming patients’ identities and maintaining confidentiality as appropriate. LGB youth should be counseled to consider the when, who, and how of their disclosure. They also should plan for how they might deal with a negative or rejecting response. Some tips are included below.⁵

When

•  You are ready.

•  You are comfortable with your identity.

•  You want to share information with people you trust and are close to.

•  You have a plan for support if you are not accepted (particularly when coming out to family).

Who

•  Someone you know well and expect to be supportive.

•  Someone you trust, feel safe with, and who can keep information confidential if needed (may need to explore school’s privacy and confidentiality policies if disclosing to a teacher or school personnel).

•  Be clear about who else information may be shared with and who NOT to share with.

How

•  Be sure you are prepared. You may want to talk to other sexual minority youth or adults who have come out, attend LGBTQ groups/forums, or seek out Internet resources to learn about others’ coming out experiences. These sources may serve as a support for you should you experience any negative or rejecting responses.

•  Make sure you have support resources in place prior to coming out.

•  Coming out by letter allows you time to carefully word what you want to say, and allows the other person time and privacy to consider their response.

•  If coming out in person, try to choose a quiet private space, and try to choose a time when everyone is relaxed and well-rested.

•  If concerned about your safety, make sure other people are immediately accessible if needed.

•  Plan what you are going to say, how you might end the conversation, and how you may want to talk about it later.

•  Listen actively to what the other person has to say.

•  Avoid any alcohol or drugs, as these may affect your mental and emotional state and responses.

•  Avoid coming out because of pressure from others or because you are angry.

Youth should be reminded that people’s responses may not always be predictable. It is important to note that for many individuals, coming out may be a lifelong process and occur in stages, beginning with close friends or family members and progressing from there. In the age of social media, youth should be reminded that disclosures through social media may be widely accessible, are easily shared, and may be difficult to remove. For youth who do not have supportive peer groups, and may not be able to disclose their sexual identity, providing support resources can be helpful.
 

Dr. Chelvakumar is an attending physician in the division of adolescent medicine at Nationwide Children’s Hospital and an assistant professor of clinical pediatrics at the Ohio State University, both in Columbus. She has no relevant financial disclosures. Email her at [email protected].

Resources for sexual minority youth and peers/families

Gay-Straight Alliance Network: gsanetwork.org

Gay Lesbian Straight Education Network: Information for Students: glsen.org/students

Sexuality Information and Education Council of the United States: www.siecus.org

The Trevor Project: Help and Suicide Prevention: www.thetrevorproject.org

It Gets Better Project: http://www.itgetsbetter.org/

Family and Ally Organization: PFLAG: https://www.pflag.org/

Advocates for Youth Parent Tips: http://www.advocatesforyouth.org/parents/173-parents

References

1. “Adolescent Sexuality,” by Michelle Forcier, MD, in Up to Date. Updated March 2017.

2. Pediatrics. 2016 Aug;138(2). pii: e20161348.

3. The Guidelines for Comprehensive Sexuality Education: Grades K-12 (Washington, D.C.: Sexuality Information and Education Council of the United States, 2004).

4. MMWR Surveillance Summaries, 2016, Aug 12;65(9):1-202.

5. “Sexual minority youth: Epidemiology and health concerns,” by Michelle Forcier, MD, and Johanna Olson-Kennedy, MD, in Up to Date.
 

Adolescence is a time of rapid growth and development both physically and emotionally. Some of the major tasks of adolescent development include developing a stable identity (this includes sexual and gender identity) and establishing independence from parents. This separation process from parents is often buffered by peer relationships. By the end of adolescence, those who are healthy and mature in their sexuality are able to:^1,2,3

•  Identify and live according to their own values and take responsibility for their behavior.

•  Practice effective decision-making, and develop critical-thinking skills.

•  Affirm that human development includes sexual development, which may or may not include reproduction or sexual experience.

•  Seek further information about sexuality and reproduction as needed and make informed choices about family options and relationships.

•  Interact with all genders in respectful and appropriate ways.

•  Affirm their own gender identity and sexual orientation, and respect the gender identities and sexual orientations of others.

•  Appreciate their body and enjoy their sexuality throughout life, expressing sexuality in ways that are congruent with their values.

•  Express love and intimacy in appropriate ways.

•  Develop and maintain meaningful relationships, avoiding exploitative or manipulative relationships.

•  Exhibit skills and communication that enhance personal relationships with family, peers, and romantic partners.

Anywhere from 5% to 10% of teens identify as lesbian, gay, or bisexual (LGB).⁴ For these teens, the development of a sexual identity can add additional challenges to the development process, particularly if youth do not feel supported by family, peers, and their communities. Previous columns have addressed the role family acceptance can play in promoting the healthy development of sexual minority youth. Likewise, peer relationships also can play an important role in an adolescent’s development and health.

•  Acceptance.

•  Competence.

•  Higher levels of self-esteem and psychological well-being.

•  Strong sense of self and self-acceptance.

•  Strong ethnic identification.

•  Strong connections to family and school.

•  Caring adult role models outside the family.

•  Community involvement.

For some youth who may not be able receive acceptance from their families, peers and trusted adults may fill in this role and serve as a “chosen family.” A chosen family is commonly understood to mean a group of people who deliberately chose one another to play significant roles in each other’s lives even though they are not biologically or legally related. These relationships may be in addition to or in place of traditional family relationships. These connections can increase a youth’s sense of acceptance and connectedness and help promote resiliency.

Adolescents often may struggle on the decision of when to “come out” or disclose their sexual orientation to friends and family, and may ask their health care providers for advice. The number one consideration when making a decision about disclosure is safety. Unfortunately, some family members and peers may not react in a supportive manner to a youth’s disclosure, and disclosure may result in being kicked out, financial coercion, bullying, physical violence, or alienation. In these cases, youth may choose to delay disclosure until they are in a more supportive environment, and health care providers can play an important role in validating and affirming patients’ identities and maintaining confidentiality as appropriate. LGB youth should be counseled to consider the when, who, and how of their disclosure. They also should plan for how they might deal with a negative or rejecting response. Some tips are included below.⁵

When

•  You are ready.

•  You are comfortable with your identity.

•  You want to share information with people you trust and are close to.

•  You have a plan for support if you are not accepted (particularly when coming out to family).

Who

•  Someone you know well and expect to be supportive.

•  Someone you trust, feel safe with, and who can keep information confidential if needed (may need to explore school’s privacy and confidentiality policies if disclosing to a teacher or school personnel).

•  Be clear about who else information may be shared with and who NOT to share with.

How

•  Be sure you are prepared. You may want to talk to other sexual minority youth or adults who have come out, attend LGBTQ groups/forums, or seek out Internet resources to learn about others’ coming out experiences. These sources may serve as a support for you should you experience any negative or rejecting responses.

•  Make sure you have support resources in place prior to coming out.

•  Coming out by letter allows you time to carefully word what you want to say, and allows the other person time and privacy to consider their response.

•  If coming out in person, try to choose a quiet private space, and try to choose a time when everyone is relaxed and well-rested.

•  If concerned about your safety, make sure other people are immediately accessible if needed.

•  Plan what you are going to say, how you might end the conversation, and how you may want to talk about it later.

•  Listen actively to what the other person has to say.

•  Avoid any alcohol or drugs, as these may affect your mental and emotional state and responses.

•  Avoid coming out because of pressure from others or because you are angry.

Youth should be reminded that people’s responses may not always be predictable. It is important to note that for many individuals, coming out may be a lifelong process and occur in stages, beginning with close friends or family members and progressing from there. In the age of social media, youth should be reminded that disclosures through social media may be widely accessible, are easily shared, and may be difficult to remove. For youth who do not have supportive peer groups, and may not be able to disclose their sexual identity, providing support resources can be helpful.
 

Dr. Chelvakumar is an attending physician in the division of adolescent medicine at Nationwide Children’s Hospital and an assistant professor of clinical pediatrics at the Ohio State University, both in Columbus. She has no relevant financial disclosures. Email her at [email protected].

Resources for sexual minority youth and peers/families

Gay-Straight Alliance Network: gsanetwork.org

Gay Lesbian Straight Education Network: Information for Students: glsen.org/students

Sexuality Information and Education Council of the United States: www.siecus.org

The Trevor Project: Help and Suicide Prevention: www.thetrevorproject.org

It Gets Better Project: http://www.itgetsbetter.org/

Family and Ally Organization: PFLAG: https://www.pflag.org/

Advocates for Youth Parent Tips: http://www.advocatesforyouth.org/parents/173-parents

References

1. “Adolescent Sexuality,” by Michelle Forcier, MD, in Up to Date. Updated March 2017.

2. Pediatrics. 2016 Aug;138(2). pii: e20161348.

3. The Guidelines for Comprehensive Sexuality Education: Grades K-12 (Washington, D.C.: Sexuality Information and Education Council of the United States, 2004).

4. MMWR Surveillance Summaries, 2016, Aug 12;65(9):1-202.

5. “Sexual minority youth: Epidemiology and health concerns,” by Michelle Forcier, MD, and Johanna Olson-Kennedy, MD, in Up to Date.
 

Can Biomarkers Predict Cognitive Deficits in Parkinson’s Disease?

Biomarkers may predict which patients with Parkinson’s disease will have significant cognitive deficits within the first three years after diagnosis, according to a study published May 17 in PLOS One. Researchers conducted an international, prospective study of 423 newly diagnosed and untreated patients with Parkinson’s disease with no signs of cognitive impairment at the time of enrollment in 2010. Investigators conducted brain scans, genetic tests, and analyses of CSF at baseline and during follow-up. At three years, between 15% and 38% of participants had developed cognitive impairment. Brain scans identified dopamine deficiency and decreased brain volume as predictors of cognitive decline. Low CSF beta-amyloid level and single-nucleotide polymorphisms (SNPs) in COMT and BDNF also predicted cognitive decline. These SNPs previously had been associated with cognitive impairment.

Caspell-Garcia C, Simuni T, Tosun-Turgut D, et al. Multiple modality biomarker prediction of cognitive impairment in prospectively followed de novo Parkinson disease. PLoS One. 2017 May 17;12(5):e0175674.

Service Members With Concussive Blast TBI Have Worsening Outcomes

Military service members with concussive blast traumatic brain injury (TBI) have considerable decline in clinical outcomes over five years, according to a study published online ahead of print May 1 in JAMA Neurology. This prospective longitudinal study enrolled active-duty US military after concussive blast injury in the acute to subacute stage and combat-deployed control individuals in Afghanistan or after medical evacuation to Germany from November 1, 2008, through July 1, 2013. Physicians in the United States performed one- and five-year clinical evaluations. Among the 94 participants, global disability, satisfaction with life, neurobehavioral symptom severity, psychiatric symptom severity, and sleep impairment were significantly worse in patients with concussive blast TBI, compared with combat-deployed controls, whereas performance on cognitive measures was no different between groups at the five-year evaluation.

Mac Donald CL, Barber J, Jordan M, et al. Early clinical predictors of 5-year outcome after concussive blast traumatic brain injury. JAMA Neurol. 2017 May 1 [Epub ahead of print].

Biomarker Linked to Increased Risk of Ischemic Stroke in Women

High levels of β₂-microglobulin are associated with an increased risk of ischemic stroke among women, according to a study published online ahead of print May 10 in Neurology. Researchers performed a nested case–control study among women enrolled in the Nurses’ Health Study who provided blood samples between 1989 and 1990 and were free of prior stroke and cancer. Investigators measured β₂-microglobulin levels in 473 ischemic stroke cases and 473 controls matched on age, race, and other variables. Median levels of β₂-microglobulin were 1.86 mg/L in cases and 1.80 mg/L in controls. Women in the highest β₂-microglobulin quartile had a multivariable-adjusted increased risk of ischemic stroke, compared with women in the lowest quartile (odds ratio, 1.56). Results were similar when restricted to those without chronic kidney disease.

Rist PM, Jiménez MC, Rexrode KM. Prospective association between β₂-microglobulin levels and ischemic stroke risk among women. Neurology. 2017 May 10 [Epub ahead of print].

Female Hormones May Cause Headache in Girls With Migraine

Age and pubertal development could moderate the effect of ovarian hormones on days of headache onset in girls with migraine, according to a study published online ahead of print May 8 in Cephalalgia. The study included 34 girls with migraine grouped into three age strata (ie, prepubertal, pubertal, and postpubertal). Participants collected daily urine samples and recorded the occurrence and severity of headache in a daily diary. Urine samples were assayed for estrone glucuronide and pregnandiol glucuronide, and the daily change in each was calculated. The primary outcome measures were headache onset days and headache severity. Models of headache onset days demonstrated a significant interaction between age and pregnandiol glucuronide. Change in pregnandiol glucuronide was associated with headache severity.

Martin VT, Allen JR, Houle TT, et al. Ovarian hormones, age and pubertal development and their association with days of headache onset in girls with migraine: an observational cohort study. Cephalalgia. 2017 Jan 1 [Epub ahead of print].

PTSD Is Associated With Risk for Dementia Diagnosis

Posttraumatic stress disorder (PTSD) diagnosis is associated with an increased risk for dementia diagnosis that varies with psychotropic medication, according to a study published in the May issue of the Journal of the American Geriatrics Society. Researchers examined information from 417,172 veterans age 56 and older without dementia or mild cognitive impairment. During the study’s nine-year follow-up period, participants had a clinical encounter every two years. PTSD diagnosis significantly increased the risk for dementia diagnosis. The hazard ratio for dementia diagnosis among veterans diagnosed with PTSD who did not use psychotropic medications was 1.55. Among veterans diagnosed with PTSD and prescribed psychotropic medication, the hazard ratio for dementia diagnosis ranged from 1.99 for SSRIs to 4.21 for atypical antipsychotics.

Mawanda F, Wallace RB, McCoy K, Abrams TE. PTSD, psychotropic medication use, and the risk of dementia among US veterans: a retrospective cohort study. J Am Geriatr Soc. 2017;65(5):1043-1050.

Screening for Atrial Fibrillation Recommended

Screening for asymptomatic atrial fibrillation in people age 65 and older and treating it with anticoagulant medications could greatly reduce the risk of stroke and premature death, according to the AF-SCREEN International Collaboration report published May 9 in Circulation. In 2016, 60 members of the collaboration, including physicians, nurses, allied health professionals, health economists, and patient advocates, were invited to prepare a draft document. They concluded that screen-detected atrial fibrillation found at a single timepoint or by intermittent ECG recordings over two weeks is not a benign condition and, with additional stroke factors, carries sufficient risk of stroke to justify consideration of anticoagulation. Handheld ECG devices are preferred as screening tools because they provide a verifiable ECG trace that guidelines require for diagnosis, said the authors.

Freedman B, Camm J, Calkins H, et al. Screening for atrial fibrillation: a report of the AF-SCREEN international collaboration. Circulation. 2017;135(19):1851-1867.

Can Music Reduce Depressive Symptoms in Dementia?

Providing people with dementia with at least five sessions of a music-based therapeutic intervention probably reduces depressive symptoms, but has little or no effect on agitation or aggression, according to a study published online ahead of print May 2 in the Cochrane Database of Systematic Reviews. Researchers searched ALOIS on April 14, 2010, using the terms “music therapy,” “music,” “singing,” “sing,” and “auditory stimulation.” Sixteen studies with a total of 620 participants contributed data to meta-analyses. Participants in the studies had dementia of varying severity. The investigators found that music-based therapeutic interventions may have little or no effect on emotional well-being and quality of life, overall behavior problems, and cognition. Study authors also found moderate-quality evidence that these interventions reduce depressive symptoms, but do not decrease agitation or aggression.

van der Steen JT, van Soest-Poortvliet MC, van der Wouden JC, et al. Music-based therapeutic interventions for people with dementia. Cochrane Database Syst Rev. 2017 May 2 [Epub ahead of print].

FDA Approves Radicava for Treatment of ALS

The FDA has approved Radicava (edaravone) as an IV treatment for amyotrophic lateral sclerosis (ALS). A phase III study evaluated the efficacy and safety of Radicava, compared with placebo, in 137 people with ALS. After a 12-week preobservation period, eligible patients were randomized 1:1 to receive 60 mg of Radicava in an IV for 60 minutes or placebo during a six-month double-blind phase. People given Radicava showed significantly less decline in physical function, compared with controls, as measured by the ALS Functional Rating Scale-Revised. The most common adverse reactions that occurred in greater than 10% of patients and greater than placebo were bruising, walking difficulties, and headache. Radicava is administered in 28-day cycles. MT Pharma America, headquartered in Jersey City, New Jersey, markets Radicava.

Can Cooling the Body Reduce Brain Injury?

Cooling the body may reduce brain injury for people in a coma after being revived from cardiac arrest, according to a guideline published online ahead of print May 10 in Neurology. Researchers reviewed evidence from studies of methods to reduce brain injury in people who are comatose after resuscitation from cardiac arrest. The guideline found that for patients who are treated with electric shocks to the heart after out-of-hospital cardiac arrest and who are in a coma, cooling the body to 89.6 to 93.2 °F for 24 hours effectively improves the chance of recovering brain function. The authors also found that keeping the body cooled to 96.8 °F for 24 hours, followed by rewarming to 99.5 °F over eight hours, effectively reduces brain injury after cardiac arrest.

Geocadin RG, Wijdicks E, Armstrong MJ, et al. Practice guideline summary: reducing brain injury following cardiopulmonary resuscitation: report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. Neurology. 2017 May 10 [Epub ahead of print].

Granger Causality Analysis Can Localize Ictal Networks

Granger causality analysis has the potential to help localize ictal networks from interictal data, according to a study published online ahead of print May 2 in Neurosurgery. For this study, 20-minute interictal baselines were obtained from 25 patients with hard-to-treat epilepsy who previously had had long-term EEG monitoring. The Granger causality maps were quantitatively compared with conventionally constructed surgical plans by using rank order and Cartesian distance statistics. In 16 of 25 participants, the interictal Granger causality rankings of the electrodes in the ictally active electrode set were lower than predicted by chance. The Granger causality maps thus likely correlated with ictal networks. The distance from the highest Granger causality electrode to the ictally active electrode set and to the resection averaged 6 and 4 mm, respectively.

Park EH, Madsen JR. Granger causality analysis of interictal iEEG predicts seizure focus and ultimate resection. Neurosurgery. 2017 May 2 [Epub ahead of print].

Tourette Disorder Risk Genes Identified

Researchers have identified the first risk gene for Tourette disorder and three other probable risk genes, according to a study published May 3 in Neuron. Researchers analyzed genomic data from 311 trios of children with Tourette disorder and their parents. Data were collected by the Tourette International Collaborative Genetics group. The authors found strong evidence that variants of WWC1 can play a significant role in triggering the disorder. Investigators conducted a replication study in 173 trios and found the same results. Extrapolating from the number of de novo variants, investigators estimated that approximately 12% of Tourette disorder cases are likely to involve de novo variants. The genes CELSR3, NIPBL, and FN1 were identified as having at least 70% probability of contributing to Tourette disorder.

Willsey AJ, Fernandez TV, Yu D, et al. De novo coding variants are strongly associated with Tourette disorder. Neuron. 2017;94(3):486-499.

—Kimberly Williams

Can Biomarkers Predict Cognitive Deficits in Parkinson’s Disease?

Biomarkers may predict which patients with Parkinson’s disease will have significant cognitive deficits within the first three years after diagnosis, according to a study published May 17 in PLOS One. Researchers conducted an international, prospective study of 423 newly diagnosed and untreated patients with Parkinson’s disease with no signs of cognitive impairment at the time of enrollment in 2010. Investigators conducted brain scans, genetic tests, and analyses of CSF at baseline and during follow-up. At three years, between 15% and 38% of participants had developed cognitive impairment. Brain scans identified dopamine deficiency and decreased brain volume as predictors of cognitive decline. Low CSF beta-amyloid level and single-nucleotide polymorphisms (SNPs) in COMT and BDNF also predicted cognitive decline. These SNPs previously had been associated with cognitive impairment.

Caspell-Garcia C, Simuni T, Tosun-Turgut D, et al. Multiple modality biomarker prediction of cognitive impairment in prospectively followed de novo Parkinson disease. PLoS One. 2017 May 17;12(5):e0175674.

Service Members With Concussive Blast TBI Have Worsening Outcomes

Military service members with concussive blast traumatic brain injury (TBI) have considerable decline in clinical outcomes over five years, according to a study published online ahead of print May 1 in JAMA Neurology. This prospective longitudinal study enrolled active-duty US military after concussive blast injury in the acute to subacute stage and combat-deployed control individuals in Afghanistan or after medical evacuation to Germany from November 1, 2008, through July 1, 2013. Physicians in the United States performed one- and five-year clinical evaluations. Among the 94 participants, global disability, satisfaction with life, neurobehavioral symptom severity, psychiatric symptom severity, and sleep impairment were significantly worse in patients with concussive blast TBI, compared with combat-deployed controls, whereas performance on cognitive measures was no different between groups at the five-year evaluation.

Mac Donald CL, Barber J, Jordan M, et al. Early clinical predictors of 5-year outcome after concussive blast traumatic brain injury. JAMA Neurol. 2017 May 1 [Epub ahead of print].

Biomarker Linked to Increased Risk of Ischemic Stroke in Women

High levels of β₂-microglobulin are associated with an increased risk of ischemic stroke among women, according to a study published online ahead of print May 10 in Neurology. Researchers performed a nested case–control study among women enrolled in the Nurses’ Health Study who provided blood samples between 1989 and 1990 and were free of prior stroke and cancer. Investigators measured β₂-microglobulin levels in 473 ischemic stroke cases and 473 controls matched on age, race, and other variables. Median levels of β₂-microglobulin were 1.86 mg/L in cases and 1.80 mg/L in controls. Women in the highest β₂-microglobulin quartile had a multivariable-adjusted increased risk of ischemic stroke, compared with women in the lowest quartile (odds ratio, 1.56). Results were similar when restricted to those without chronic kidney disease.

Rist PM, Jiménez MC, Rexrode KM. Prospective association between β₂-microglobulin levels and ischemic stroke risk among women. Neurology. 2017 May 10 [Epub ahead of print].

Female Hormones May Cause Headache in Girls With Migraine

Age and pubertal development could moderate the effect of ovarian hormones on days of headache onset in girls with migraine, according to a study published online ahead of print May 8 in Cephalalgia. The study included 34 girls with migraine grouped into three age strata (ie, prepubertal, pubertal, and postpubertal). Participants collected daily urine samples and recorded the occurrence and severity of headache in a daily diary. Urine samples were assayed for estrone glucuronide and pregnandiol glucuronide, and the daily change in each was calculated. The primary outcome measures were headache onset days and headache severity. Models of headache onset days demonstrated a significant interaction between age and pregnandiol glucuronide. Change in pregnandiol glucuronide was associated with headache severity.

Martin VT, Allen JR, Houle TT, et al. Ovarian hormones, age and pubertal development and their association with days of headache onset in girls with migraine: an observational cohort study. Cephalalgia. 2017 Jan 1 [Epub ahead of print].

PTSD Is Associated With Risk for Dementia Diagnosis

Posttraumatic stress disorder (PTSD) diagnosis is associated with an increased risk for dementia diagnosis that varies with psychotropic medication, according to a study published in the May issue of the Journal of the American Geriatrics Society. Researchers examined information from 417,172 veterans age 56 and older without dementia or mild cognitive impairment. During the study’s nine-year follow-up period, participants had a clinical encounter every two years. PTSD diagnosis significantly increased the risk for dementia diagnosis. The hazard ratio for dementia diagnosis among veterans diagnosed with PTSD who did not use psychotropic medications was 1.55. Among veterans diagnosed with PTSD and prescribed psychotropic medication, the hazard ratio for dementia diagnosis ranged from 1.99 for SSRIs to 4.21 for atypical antipsychotics.

Mawanda F, Wallace RB, McCoy K, Abrams TE. PTSD, psychotropic medication use, and the risk of dementia among US veterans: a retrospective cohort study. J Am Geriatr Soc. 2017;65(5):1043-1050.

Screening for Atrial Fibrillation Recommended

Screening for asymptomatic atrial fibrillation in people age 65 and older and treating it with anticoagulant medications could greatly reduce the risk of stroke and premature death, according to the AF-SCREEN International Collaboration report published May 9 in Circulation. In 2016, 60 members of the collaboration, including physicians, nurses, allied health professionals, health economists, and patient advocates, were invited to prepare a draft document. They concluded that screen-detected atrial fibrillation found at a single timepoint or by intermittent ECG recordings over two weeks is not a benign condition and, with additional stroke factors, carries sufficient risk of stroke to justify consideration of anticoagulation. Handheld ECG devices are preferred as screening tools because they provide a verifiable ECG trace that guidelines require for diagnosis, said the authors.

Freedman B, Camm J, Calkins H, et al. Screening for atrial fibrillation: a report of the AF-SCREEN international collaboration. Circulation. 2017;135(19):1851-1867.

Can Music Reduce Depressive Symptoms in Dementia?

Providing people with dementia with at least five sessions of a music-based therapeutic intervention probably reduces depressive symptoms, but has little or no effect on agitation or aggression, according to a study published online ahead of print May 2 in the Cochrane Database of Systematic Reviews. Researchers searched ALOIS on April 14, 2010, using the terms “music therapy,” “music,” “singing,” “sing,” and “auditory stimulation.” Sixteen studies with a total of 620 participants contributed data to meta-analyses. Participants in the studies had dementia of varying severity. The investigators found that music-based therapeutic interventions may have little or no effect on emotional well-being and quality of life, overall behavior problems, and cognition. Study authors also found moderate-quality evidence that these interventions reduce depressive symptoms, but do not decrease agitation or aggression.

van der Steen JT, van Soest-Poortvliet MC, van der Wouden JC, et al. Music-based therapeutic interventions for people with dementia. Cochrane Database Syst Rev. 2017 May 2 [Epub ahead of print].

FDA Approves Radicava for Treatment of ALS

The FDA has approved Radicava (edaravone) as an IV treatment for amyotrophic lateral sclerosis (ALS). A phase III study evaluated the efficacy and safety of Radicava, compared with placebo, in 137 people with ALS. After a 12-week preobservation period, eligible patients were randomized 1:1 to receive 60 mg of Radicava in an IV for 60 minutes or placebo during a six-month double-blind phase. People given Radicava showed significantly less decline in physical function, compared with controls, as measured by the ALS Functional Rating Scale-Revised. The most common adverse reactions that occurred in greater than 10% of patients and greater than placebo were bruising, walking difficulties, and headache. Radicava is administered in 28-day cycles. MT Pharma America, headquartered in Jersey City, New Jersey, markets Radicava.

Can Cooling the Body Reduce Brain Injury?

Cooling the body may reduce brain injury for people in a coma after being revived from cardiac arrest, according to a guideline published online ahead of print May 10 in Neurology. Researchers reviewed evidence from studies of methods to reduce brain injury in people who are comatose after resuscitation from cardiac arrest. The guideline found that for patients who are treated with electric shocks to the heart after out-of-hospital cardiac arrest and who are in a coma, cooling the body to 89.6 to 93.2 °F for 24 hours effectively improves the chance of recovering brain function. The authors also found that keeping the body cooled to 96.8 °F for 24 hours, followed by rewarming to 99.5 °F over eight hours, effectively reduces brain injury after cardiac arrest.

Geocadin RG, Wijdicks E, Armstrong MJ, et al. Practice guideline summary: reducing brain injury following cardiopulmonary resuscitation: report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. Neurology. 2017 May 10 [Epub ahead of print].

Granger Causality Analysis Can Localize Ictal Networks

Granger causality analysis has the potential to help localize ictal networks from interictal data, according to a study published online ahead of print May 2 in Neurosurgery. For this study, 20-minute interictal baselines were obtained from 25 patients with hard-to-treat epilepsy who previously had had long-term EEG monitoring. The Granger causality maps were quantitatively compared with conventionally constructed surgical plans by using rank order and Cartesian distance statistics. In 16 of 25 participants, the interictal Granger causality rankings of the electrodes in the ictally active electrode set were lower than predicted by chance. The Granger causality maps thus likely correlated with ictal networks. The distance from the highest Granger causality electrode to the ictally active electrode set and to the resection averaged 6 and 4 mm, respectively.

Park EH, Madsen JR. Granger causality analysis of interictal iEEG predicts seizure focus and ultimate resection. Neurosurgery. 2017 May 2 [Epub ahead of print].

Tourette Disorder Risk Genes Identified

Researchers have identified the first risk gene for Tourette disorder and three other probable risk genes, according to a study published May 3 in Neuron. Researchers analyzed genomic data from 311 trios of children with Tourette disorder and their parents. Data were collected by the Tourette International Collaborative Genetics group. The authors found strong evidence that variants of WWC1 can play a significant role in triggering the disorder. Investigators conducted a replication study in 173 trios and found the same results. Extrapolating from the number of de novo variants, investigators estimated that approximately 12% of Tourette disorder cases are likely to involve de novo variants. The genes CELSR3, NIPBL, and FN1 were identified as having at least 70% probability of contributing to Tourette disorder.

Willsey AJ, Fernandez TV, Yu D, et al. De novo coding variants are strongly associated with Tourette disorder. Neuron. 2017;94(3):486-499.

—Kimberly Williams

Can Biomarkers Predict Cognitive Deficits in Parkinson’s Disease?

Biomarkers may predict which patients with Parkinson’s disease will have significant cognitive deficits within the first three years after diagnosis, according to a study published May 17 in PLOS One. Researchers conducted an international, prospective study of 423 newly diagnosed and untreated patients with Parkinson’s disease with no signs of cognitive impairment at the time of enrollment in 2010. Investigators conducted brain scans, genetic tests, and analyses of CSF at baseline and during follow-up. At three years, between 15% and 38% of participants had developed cognitive impairment. Brain scans identified dopamine deficiency and decreased brain volume as predictors of cognitive decline. Low CSF beta-amyloid level and single-nucleotide polymorphisms (SNPs) in COMT and BDNF also predicted cognitive decline. These SNPs previously had been associated with cognitive impairment.

Caspell-Garcia C, Simuni T, Tosun-Turgut D, et al. Multiple modality biomarker prediction of cognitive impairment in prospectively followed de novo Parkinson disease. PLoS One. 2017 May 17;12(5):e0175674.

Service Members With Concussive Blast TBI Have Worsening Outcomes

Military service members with concussive blast traumatic brain injury (TBI) have considerable decline in clinical outcomes over five years, according to a study published online ahead of print May 1 in JAMA Neurology. This prospective longitudinal study enrolled active-duty US military after concussive blast injury in the acute to subacute stage and combat-deployed control individuals in Afghanistan or after medical evacuation to Germany from November 1, 2008, through July 1, 2013. Physicians in the United States performed one- and five-year clinical evaluations. Among the 94 participants, global disability, satisfaction with life, neurobehavioral symptom severity, psychiatric symptom severity, and sleep impairment were significantly worse in patients with concussive blast TBI, compared with combat-deployed controls, whereas performance on cognitive measures was no different between groups at the five-year evaluation.

Mac Donald CL, Barber J, Jordan M, et al. Early clinical predictors of 5-year outcome after concussive blast traumatic brain injury. JAMA Neurol. 2017 May 1 [Epub ahead of print].

Biomarker Linked to Increased Risk of Ischemic Stroke in Women

High levels of β₂-microglobulin are associated with an increased risk of ischemic stroke among women, according to a study published online ahead of print May 10 in Neurology. Researchers performed a nested case–control study among women enrolled in the Nurses’ Health Study who provided blood samples between 1989 and 1990 and were free of prior stroke and cancer. Investigators measured β₂-microglobulin levels in 473 ischemic stroke cases and 473 controls matched on age, race, and other variables. Median levels of β₂-microglobulin were 1.86 mg/L in cases and 1.80 mg/L in controls. Women in the highest β₂-microglobulin quartile had a multivariable-adjusted increased risk of ischemic stroke, compared with women in the lowest quartile (odds ratio, 1.56). Results were similar when restricted to those without chronic kidney disease.

Rist PM, Jiménez MC, Rexrode KM. Prospective association between β₂-microglobulin levels and ischemic stroke risk among women. Neurology. 2017 May 10 [Epub ahead of print].

Female Hormones May Cause Headache in Girls With Migraine

Age and pubertal development could moderate the effect of ovarian hormones on days of headache onset in girls with migraine, according to a study published online ahead of print May 8 in Cephalalgia. The study included 34 girls with migraine grouped into three age strata (ie, prepubertal, pubertal, and postpubertal). Participants collected daily urine samples and recorded the occurrence and severity of headache in a daily diary. Urine samples were assayed for estrone glucuronide and pregnandiol glucuronide, and the daily change in each was calculated. The primary outcome measures were headache onset days and headache severity. Models of headache onset days demonstrated a significant interaction between age and pregnandiol glucuronide. Change in pregnandiol glucuronide was associated with headache severity.

Martin VT, Allen JR, Houle TT, et al. Ovarian hormones, age and pubertal development and their association with days of headache onset in girls with migraine: an observational cohort study. Cephalalgia. 2017 Jan 1 [Epub ahead of print].

PTSD Is Associated With Risk for Dementia Diagnosis

Posttraumatic stress disorder (PTSD) diagnosis is associated with an increased risk for dementia diagnosis that varies with psychotropic medication, according to a study published in the May issue of the Journal of the American Geriatrics Society. Researchers examined information from 417,172 veterans age 56 and older without dementia or mild cognitive impairment. During the study’s nine-year follow-up period, participants had a clinical encounter every two years. PTSD diagnosis significantly increased the risk for dementia diagnosis. The hazard ratio for dementia diagnosis among veterans diagnosed with PTSD who did not use psychotropic medications was 1.55. Among veterans diagnosed with PTSD and prescribed psychotropic medication, the hazard ratio for dementia diagnosis ranged from 1.99 for SSRIs to 4.21 for atypical antipsychotics.

Mawanda F, Wallace RB, McCoy K, Abrams TE. PTSD, psychotropic medication use, and the risk of dementia among US veterans: a retrospective cohort study. J Am Geriatr Soc. 2017;65(5):1043-1050.

Screening for Atrial Fibrillation Recommended

Screening for asymptomatic atrial fibrillation in people age 65 and older and treating it with anticoagulant medications could greatly reduce the risk of stroke and premature death, according to the AF-SCREEN International Collaboration report published May 9 in Circulation. In 2016, 60 members of the collaboration, including physicians, nurses, allied health professionals, health economists, and patient advocates, were invited to prepare a draft document. They concluded that screen-detected atrial fibrillation found at a single timepoint or by intermittent ECG recordings over two weeks is not a benign condition and, with additional stroke factors, carries sufficient risk of stroke to justify consideration of anticoagulation. Handheld ECG devices are preferred as screening tools because they provide a verifiable ECG trace that guidelines require for diagnosis, said the authors.

Freedman B, Camm J, Calkins H, et al. Screening for atrial fibrillation: a report of the AF-SCREEN international collaboration. Circulation. 2017;135(19):1851-1867.

Can Music Reduce Depressive Symptoms in Dementia?

Providing people with dementia with at least five sessions of a music-based therapeutic intervention probably reduces depressive symptoms, but has little or no effect on agitation or aggression, according to a study published online ahead of print May 2 in the Cochrane Database of Systematic Reviews. Researchers searched ALOIS on April 14, 2010, using the terms “music therapy,” “music,” “singing,” “sing,” and “auditory stimulation.” Sixteen studies with a total of 620 participants contributed data to meta-analyses. Participants in the studies had dementia of varying severity. The investigators found that music-based therapeutic interventions may have little or no effect on emotional well-being and quality of life, overall behavior problems, and cognition. Study authors also found moderate-quality evidence that these interventions reduce depressive symptoms, but do not decrease agitation or aggression.

van der Steen JT, van Soest-Poortvliet MC, van der Wouden JC, et al. Music-based therapeutic interventions for people with dementia. Cochrane Database Syst Rev. 2017 May 2 [Epub ahead of print].

FDA Approves Radicava for Treatment of ALS

The FDA has approved Radicava (edaravone) as an IV treatment for amyotrophic lateral sclerosis (ALS). A phase III study evaluated the efficacy and safety of Radicava, compared with placebo, in 137 people with ALS. After a 12-week preobservation period, eligible patients were randomized 1:1 to receive 60 mg of Radicava in an IV for 60 minutes or placebo during a six-month double-blind phase. People given Radicava showed significantly less decline in physical function, compared with controls, as measured by the ALS Functional Rating Scale-Revised. The most common adverse reactions that occurred in greater than 10% of patients and greater than placebo were bruising, walking difficulties, and headache. Radicava is administered in 28-day cycles. MT Pharma America, headquartered in Jersey City, New Jersey, markets Radicava.

Can Cooling the Body Reduce Brain Injury?

Cooling the body may reduce brain injury for people in a coma after being revived from cardiac arrest, according to a guideline published online ahead of print May 10 in Neurology. Researchers reviewed evidence from studies of methods to reduce brain injury in people who are comatose after resuscitation from cardiac arrest. The guideline found that for patients who are treated with electric shocks to the heart after out-of-hospital cardiac arrest and who are in a coma, cooling the body to 89.6 to 93.2 °F for 24 hours effectively improves the chance of recovering brain function. The authors also found that keeping the body cooled to 96.8 °F for 24 hours, followed by rewarming to 99.5 °F over eight hours, effectively reduces brain injury after cardiac arrest.

Geocadin RG, Wijdicks E, Armstrong MJ, et al. Practice guideline summary: reducing brain injury following cardiopulmonary resuscitation: report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. Neurology. 2017 May 10 [Epub ahead of print].

Granger Causality Analysis Can Localize Ictal Networks

Granger causality analysis has the potential to help localize ictal networks from interictal data, according to a study published online ahead of print May 2 in Neurosurgery. For this study, 20-minute interictal baselines were obtained from 25 patients with hard-to-treat epilepsy who previously had had long-term EEG monitoring. The Granger causality maps were quantitatively compared with conventionally constructed surgical plans by using rank order and Cartesian distance statistics. In 16 of 25 participants, the interictal Granger causality rankings of the electrodes in the ictally active electrode set were lower than predicted by chance. The Granger causality maps thus likely correlated with ictal networks. The distance from the highest Granger causality electrode to the ictally active electrode set and to the resection averaged 6 and 4 mm, respectively.

Park EH, Madsen JR. Granger causality analysis of interictal iEEG predicts seizure focus and ultimate resection. Neurosurgery. 2017 May 2 [Epub ahead of print].

Tourette Disorder Risk Genes Identified

Researchers have identified the first risk gene for Tourette disorder and three other probable risk genes, according to a study published May 3 in Neuron. Researchers analyzed genomic data from 311 trios of children with Tourette disorder and their parents. Data were collected by the Tourette International Collaborative Genetics group. The authors found strong evidence that variants of WWC1 can play a significant role in triggering the disorder. Investigators conducted a replication study in 173 trios and found the same results. Extrapolating from the number of de novo variants, investigators estimated that approximately 12% of Tourette disorder cases are likely to involve de novo variants. The genes CELSR3, NIPBL, and FN1 were identified as having at least 70% probability of contributing to Tourette disorder.

Willsey AJ, Fernandez TV, Yu D, et al. De novo coding variants are strongly associated with Tourette disorder. Neuron. 2017;94(3):486-499.

—Kimberly Williams

Experts Release Consensus Statement on Catheter and Surgical Ablation of Atrial Fibrillation

The Heart Rhythm Society, in joint partnership with heart societies from around the world, issued an international consensus statement that provides a state-of-the-art review of the indications, techniques, and outcomes of catheter and surgical ablation of atrial fibrillation (AF). This document is a complete and comprehensive revision of the 2012 statement.

“The rate of advancement in the tools, techniques, and outcomes of AF ablation continues to increase at a rapid pace. Our writing group worked together to revise the current recommendations to address the medical advancements that have really evolved over the last five years,” said Hugh Calkins, MD, Nicholas J. Fortuin, MD, Professor of Cardiology and Director of the Electrophysiology Laboratory and Arrhythmia Service at the Johns Hopkins Hospital in Baltimore. “It is our hope that this document can help improve patient care by providing a foundation for everyone involved in the care of AF patients, including clinicians who perform catheter or surgical ablations.”

For the first time, the writing group, comprising 60 experts from international organizations, addressed the issue of catheter ablation of AF in select asymptomatic patients. The group also addressed the issues of AF ablation as first-line therapy, the role of AF ablation in patients with heart failure, anticoagulation recommendations for patients undergoing ablation therapy, and the role of AF ablation in subgroups of patients not well represented in clinical trials. Recommendations pertinent to the design of clinical trials in the field of AF ablation and the reporting of outcomes, including relevant definitions, were also offered.

The final decision regarding care of a patient should be made by health care providers and their patients in light of all the circumstances presented by the patient, according to the authors. The document was published in the online edition of HeartRhythm, the official journal of the Heart Rhythm Society.

Long-Term Use of Aspirin Does Not Lower Risk of Stroke in Some Patients With Atrial Fibrillation

Using long-term aspirin therapy to prevent strokes among patients who are considered to be at low risk for stroke may not be effective as previously thought.

Patients with atrial fibrillation (AF) who received a catheter ablation and were at low risk of stroke did not benefit from long-term aspirin therapy, but were at risk of higher rates of bleeding, compared with patients who received no therapy at all.

“When AF patients are considered low risk for stroke, physicians often treat them with aspirin rather than stronger anticoagulants to further lower that risk,” said Jared Bunch, MD, Director of Heart Rhythm Research at the Intermountain Medical Center Heart Institute in Salt Lake City. “What was unknown was if aspirin was a safe and effective stroke prevention treatment after an ablation in lower-risk AF patients. Traditionally, lower-risk AF patients have been treated with aspirin without significant supportive data.”

Dr. Bunch and his team investigated the impact of long-term use of aspirin in 4,124 low-risk patients with AF who underwent catheter ablation. During a three-year period, those who were on aspirin had a significantly higher risk for gastrointestinal bleeding and genitourinary bleeding, compared with those on warfarin or those who were untreated.

“In both the general and medical communities, aspirin therapy is perceived to reduce risks,” said Dr. Bunch. “It is easy to prescribe, and it is available worldwide over the counter. There has always been little evidence to support its use for stroke prevention in AF patients. This study continues to show that aspirin has little to no benefit for stroke prevention in AF patients, and when used in low-risk patients, it significantly increases a patient’s bleeding risk.”

Artificial Intelligence Automatically Detects Atrial Fibrillation

The Apple Watch’s heart rate sensor, when paired with an artificial intelligence-based algorithm, can detect atrial fibrillation (AF). The research uses a deep neural network (DNN) based on photoplethysmographic (PPG) sensors commonly found in smart watches.

The study enrolled 6,158 users of Cardiogram for Apple Watch into the University of California, San Francisco (UCSF) Health eHeart Study. Data from those participants—including 139 million heart rate measurements and 6,338 mobile ECGs—were used to train a DNN to automatically distinguish AF from normal heart rhythm.

The DNN was validated against a cohort of 51 patients scheduled to undergo cardioversion. Each patient wore an Apple Watch for 20 minutes before and after cardioversion. With a 12-lead ECG as a reference standard, the DNN correctly detected AF with an accuracy of 97%, a sensitivity of 98.04%, and a specificity of 90.20%, which were higher than those of previously validated algorithms for the detection of AF.

“Our results show that common wearable trackers like smartwatches present a novel opportunity to monitor, capture, and prompt medical therapy for AF without any active effort from patients,” said senior author Gregory M. Marcus, MD, Endowed Professor of AF Research and Director of Clinical Research for the Division of Cardiology at UCSF. “While mobile technology screening will not replace more conventional monitoring methods, it has the potential to successfully screen those at an increased risk and lower the number of undiagnosed cases of AF.”

Delayed Use of Blood Thinners for Atrial Fibrillation Increases Risk of Dementia

Dementia rates increase when anticoagulation treatment is delayed for patients with atrial fibrillation. A large-scale study included more than 76,000 patients with atrial fibrillation with no prior history of dementia who were treated with an antiplatelet or warfarin.

Researchers studied patients from the time of their atrial fibrillation diagnosis to actual start of an antiplatelet agent or anticoagulation therapy. Patients were then grouped into two categories: those who received immediate treatment (started less than 30 days after diagnosis) and those who received delayed treatment (started after one year).

Using the CHADS2 VASc score to predict stroke risks and identify those at highest risk of cognitive decline with a delay in therapy, researchers found that the risk of dementia in low-risk patients was 30% higher for those who received delayed treatment, and a significant 136% higher for high-risk patients.

Researchers also found that when the time period of delays was analyzed as a spectrum including less than 30 days, 31 days to one year, one to three years, and longer than three years, the risk of dementia increased as the delays in warfarin initiation increased.

“Our results reinforce the importance of starting anticoagulation treatment as early as possible after a patient is diagnosed with atrial fibrillation,” said Jared Bunch, MD, Director of Heart Rhythm Research at the Intermountain Medical Center Heart Institute in Salt Lake City.

Experts Release Consensus Statement on Catheter and Surgical Ablation of Atrial Fibrillation

The Heart Rhythm Society, in joint partnership with heart societies from around the world, issued an international consensus statement that provides a state-of-the-art review of the indications, techniques, and outcomes of catheter and surgical ablation of atrial fibrillation (AF). This document is a complete and comprehensive revision of the 2012 statement.

“The rate of advancement in the tools, techniques, and outcomes of AF ablation continues to increase at a rapid pace. Our writing group worked together to revise the current recommendations to address the medical advancements that have really evolved over the last five years,” said Hugh Calkins, MD, Nicholas J. Fortuin, MD, Professor of Cardiology and Director of the Electrophysiology Laboratory and Arrhythmia Service at the Johns Hopkins Hospital in Baltimore. “It is our hope that this document can help improve patient care by providing a foundation for everyone involved in the care of AF patients, including clinicians who perform catheter or surgical ablations.”

For the first time, the writing group, comprising 60 experts from international organizations, addressed the issue of catheter ablation of AF in select asymptomatic patients. The group also addressed the issues of AF ablation as first-line therapy, the role of AF ablation in patients with heart failure, anticoagulation recommendations for patients undergoing ablation therapy, and the role of AF ablation in subgroups of patients not well represented in clinical trials. Recommendations pertinent to the design of clinical trials in the field of AF ablation and the reporting of outcomes, including relevant definitions, were also offered.

The final decision regarding care of a patient should be made by health care providers and their patients in light of all the circumstances presented by the patient, according to the authors. The document was published in the online edition of HeartRhythm, the official journal of the Heart Rhythm Society.

Long-Term Use of Aspirin Does Not Lower Risk of Stroke in Some Patients With Atrial Fibrillation

Using long-term aspirin therapy to prevent strokes among patients who are considered to be at low risk for stroke may not be effective as previously thought.

Patients with atrial fibrillation (AF) who received a catheter ablation and were at low risk of stroke did not benefit from long-term aspirin therapy, but were at risk of higher rates of bleeding, compared with patients who received no therapy at all.

“When AF patients are considered low risk for stroke, physicians often treat them with aspirin rather than stronger anticoagulants to further lower that risk,” said Jared Bunch, MD, Director of Heart Rhythm Research at the Intermountain Medical Center Heart Institute in Salt Lake City. “What was unknown was if aspirin was a safe and effective stroke prevention treatment after an ablation in lower-risk AF patients. Traditionally, lower-risk AF patients have been treated with aspirin without significant supportive data.”

Dr. Bunch and his team investigated the impact of long-term use of aspirin in 4,124 low-risk patients with AF who underwent catheter ablation. During a three-year period, those who were on aspirin had a significantly higher risk for gastrointestinal bleeding and genitourinary bleeding, compared with those on warfarin or those who were untreated.

“In both the general and medical communities, aspirin therapy is perceived to reduce risks,” said Dr. Bunch. “It is easy to prescribe, and it is available worldwide over the counter. There has always been little evidence to support its use for stroke prevention in AF patients. This study continues to show that aspirin has little to no benefit for stroke prevention in AF patients, and when used in low-risk patients, it significantly increases a patient’s bleeding risk.”

Artificial Intelligence Automatically Detects Atrial Fibrillation

The Apple Watch’s heart rate sensor, when paired with an artificial intelligence-based algorithm, can detect atrial fibrillation (AF). The research uses a deep neural network (DNN) based on photoplethysmographic (PPG) sensors commonly found in smart watches.

The study enrolled 6,158 users of Cardiogram for Apple Watch into the University of California, San Francisco (UCSF) Health eHeart Study. Data from those participants—including 139 million heart rate measurements and 6,338 mobile ECGs—were used to train a DNN to automatically distinguish AF from normal heart rhythm.

The DNN was validated against a cohort of 51 patients scheduled to undergo cardioversion. Each patient wore an Apple Watch for 20 minutes before and after cardioversion. With a 12-lead ECG as a reference standard, the DNN correctly detected AF with an accuracy of 97%, a sensitivity of 98.04%, and a specificity of 90.20%, which were higher than those of previously validated algorithms for the detection of AF.

“Our results show that common wearable trackers like smartwatches present a novel opportunity to monitor, capture, and prompt medical therapy for AF without any active effort from patients,” said senior author Gregory M. Marcus, MD, Endowed Professor of AF Research and Director of Clinical Research for the Division of Cardiology at UCSF. “While mobile technology screening will not replace more conventional monitoring methods, it has the potential to successfully screen those at an increased risk and lower the number of undiagnosed cases of AF.”

Delayed Use of Blood Thinners for Atrial Fibrillation Increases Risk of Dementia

Dementia rates increase when anticoagulation treatment is delayed for patients with atrial fibrillation. A large-scale study included more than 76,000 patients with atrial fibrillation with no prior history of dementia who were treated with an antiplatelet or warfarin.

Researchers studied patients from the time of their atrial fibrillation diagnosis to actual start of an antiplatelet agent or anticoagulation therapy. Patients were then grouped into two categories: those who received immediate treatment (started less than 30 days after diagnosis) and those who received delayed treatment (started after one year).

Using the CHADS2 VASc score to predict stroke risks and identify those at highest risk of cognitive decline with a delay in therapy, researchers found that the risk of dementia in low-risk patients was 30% higher for those who received delayed treatment, and a significant 136% higher for high-risk patients.

Researchers also found that when the time period of delays was analyzed as a spectrum including less than 30 days, 31 days to one year, one to three years, and longer than three years, the risk of dementia increased as the delays in warfarin initiation increased.

“Our results reinforce the importance of starting anticoagulation treatment as early as possible after a patient is diagnosed with atrial fibrillation,” said Jared Bunch, MD, Director of Heart Rhythm Research at the Intermountain Medical Center Heart Institute in Salt Lake City.

Experts Release Consensus Statement on Catheter and Surgical Ablation of Atrial Fibrillation

The Heart Rhythm Society, in joint partnership with heart societies from around the world, issued an international consensus statement that provides a state-of-the-art review of the indications, techniques, and outcomes of catheter and surgical ablation of atrial fibrillation (AF). This document is a complete and comprehensive revision of the 2012 statement.

“The rate of advancement in the tools, techniques, and outcomes of AF ablation continues to increase at a rapid pace. Our writing group worked together to revise the current recommendations to address the medical advancements that have really evolved over the last five years,” said Hugh Calkins, MD, Nicholas J. Fortuin, MD, Professor of Cardiology and Director of the Electrophysiology Laboratory and Arrhythmia Service at the Johns Hopkins Hospital in Baltimore. “It is our hope that this document can help improve patient care by providing a foundation for everyone involved in the care of AF patients, including clinicians who perform catheter or surgical ablations.”

For the first time, the writing group, comprising 60 experts from international organizations, addressed the issue of catheter ablation of AF in select asymptomatic patients. The group also addressed the issues of AF ablation as first-line therapy, the role of AF ablation in patients with heart failure, anticoagulation recommendations for patients undergoing ablation therapy, and the role of AF ablation in subgroups of patients not well represented in clinical trials. Recommendations pertinent to the design of clinical trials in the field of AF ablation and the reporting of outcomes, including relevant definitions, were also offered.

The final decision regarding care of a patient should be made by health care providers and their patients in light of all the circumstances presented by the patient, according to the authors. The document was published in the online edition of HeartRhythm, the official journal of the Heart Rhythm Society.

Long-Term Use of Aspirin Does Not Lower Risk of Stroke in Some Patients With Atrial Fibrillation

Using long-term aspirin therapy to prevent strokes among patients who are considered to be at low risk for stroke may not be effective as previously thought.

Patients with atrial fibrillation (AF) who received a catheter ablation and were at low risk of stroke did not benefit from long-term aspirin therapy, but were at risk of higher rates of bleeding, compared with patients who received no therapy at all.

“When AF patients are considered low risk for stroke, physicians often treat them with aspirin rather than stronger anticoagulants to further lower that risk,” said Jared Bunch, MD, Director of Heart Rhythm Research at the Intermountain Medical Center Heart Institute in Salt Lake City. “What was unknown was if aspirin was a safe and effective stroke prevention treatment after an ablation in lower-risk AF patients. Traditionally, lower-risk AF patients have been treated with aspirin without significant supportive data.”

Dr. Bunch and his team investigated the impact of long-term use of aspirin in 4,124 low-risk patients with AF who underwent catheter ablation. During a three-year period, those who were on aspirin had a significantly higher risk for gastrointestinal bleeding and genitourinary bleeding, compared with those on warfarin or those who were untreated.

“In both the general and medical communities, aspirin therapy is perceived to reduce risks,” said Dr. Bunch. “It is easy to prescribe, and it is available worldwide over the counter. There has always been little evidence to support its use for stroke prevention in AF patients. This study continues to show that aspirin has little to no benefit for stroke prevention in AF patients, and when used in low-risk patients, it significantly increases a patient’s bleeding risk.”

Artificial Intelligence Automatically Detects Atrial Fibrillation

The Apple Watch’s heart rate sensor, when paired with an artificial intelligence-based algorithm, can detect atrial fibrillation (AF). The research uses a deep neural network (DNN) based on photoplethysmographic (PPG) sensors commonly found in smart watches.

The study enrolled 6,158 users of Cardiogram for Apple Watch into the University of California, San Francisco (UCSF) Health eHeart Study. Data from those participants—including 139 million heart rate measurements and 6,338 mobile ECGs—were used to train a DNN to automatically distinguish AF from normal heart rhythm.

The DNN was validated against a cohort of 51 patients scheduled to undergo cardioversion. Each patient wore an Apple Watch for 20 minutes before and after cardioversion. With a 12-lead ECG as a reference standard, the DNN correctly detected AF with an accuracy of 97%, a sensitivity of 98.04%, and a specificity of 90.20%, which were higher than those of previously validated algorithms for the detection of AF.

“Our results show that common wearable trackers like smartwatches present a novel opportunity to monitor, capture, and prompt medical therapy for AF without any active effort from patients,” said senior author Gregory M. Marcus, MD, Endowed Professor of AF Research and Director of Clinical Research for the Division of Cardiology at UCSF. “While mobile technology screening will not replace more conventional monitoring methods, it has the potential to successfully screen those at an increased risk and lower the number of undiagnosed cases of AF.”

Delayed Use of Blood Thinners for Atrial Fibrillation Increases Risk of Dementia

Dementia rates increase when anticoagulation treatment is delayed for patients with atrial fibrillation. A large-scale study included more than 76,000 patients with atrial fibrillation with no prior history of dementia who were treated with an antiplatelet or warfarin.

Researchers studied patients from the time of their atrial fibrillation diagnosis to actual start of an antiplatelet agent or anticoagulation therapy. Patients were then grouped into two categories: those who received immediate treatment (started less than 30 days after diagnosis) and those who received delayed treatment (started after one year).

Using the CHADS2 VASc score to predict stroke risks and identify those at highest risk of cognitive decline with a delay in therapy, researchers found that the risk of dementia in low-risk patients was 30% higher for those who received delayed treatment, and a significant 136% higher for high-risk patients.

Researchers also found that when the time period of delays was analyzed as a spectrum including less than 30 days, 31 days to one year, one to three years, and longer than three years, the risk of dementia increased as the delays in warfarin initiation increased.

“Our results reinforce the importance of starting anticoagulation treatment as early as possible after a patient is diagnosed with atrial fibrillation,” said Jared Bunch, MD, Director of Heart Rhythm Research at the Intermountain Medical Center Heart Institute in Salt Lake City.

MIAMI—When evaluating a patient with a movement disorder that seems to be rare, neurologists should employ their clinical expertise and consider a broad range of possible causes, said Anthony E. Lang, MD, Professor and Director of Neurology at the University of Toronto.

“Not everything is going to be diagnosed with whole exome sequencing,” Dr. Lang said at the First Pan American Parkinson’s Disease and Movement Disorders Congress. “Think much more broadly than that, or you are going to miss some important diagnoses and, in some cases, miss quite treatable diagnoses.”

A patient’s history, the physical and neurologic exam, and laboratory and genetic testing are important tools in developing a differential diagnosis. Once a diagnosis has been made, certain disorders may entail a risk of long-term complications that require preventive measures and surveillance.

Dr. Lang cochairs an annual session at the International Congress of Parkinson’s Disease and Movement Disorders that features video presentations of unusual cases. “The more you are aware of and the more you have seen, the more you may have an impact on helping the patient,” he said.

Think Broadly

Approximately 80% of rare diseases are genetic, and modern molecular genetic tests increasingly allow neurologists to make accurate diagnoses. Other causes of rare movement disorders include autoimmune disease, infection, neoplasms, environmental exposures, degenerative disorders, and deficiency states.

Camilo Toro, MD, a neurologist with the NIH Undiagnosed Diseases Program, advises that the classical phenotypes of rare diseases often represent the worst-case scenario, Dr. Lang said. Neurologists increasingly are recognizing broader phenotypic variability and milder forms of rare genetic diseases. In addition, the boundaries between pediatric and adult genetic disorders are blurred, and a patient with more than one genetic disorder may have a blended phenotype. It is also possible that a patient has a rare presentation of a common disorder.

Patient and Family History

Neurologists should consider how a movement disorder began (eg, triggers or precipitants) and whether a patient has other neurologic or general medical illnesses. A patient’s old images, videos, and laboratory tests may offer insights. Genetic counselors can be a valuable resource for neurologists who are interested in learning how to take a careful family history.

Possible sources of confusion about the inheritance of genetic disorders include de novo mutations, missed family history of a disorder (eg, if a relative has a mild manifestation), incomplete penetrance of dominant disorders, incorrect attribution of paternity, and the possibility of pseudodominance in inbred families with recessive disorders. Other types of inheritance include maternal inheritance, maternal imprinting (eg, in myoclonus dystonia), and uniparental disomy.

General and Neurologic Examinations

A patient’s habitus, stature, and facial dysmorphism may be informative. After seeing a patient with Woodhouse-Sakati syndrome in a case that had been presented at a conference, Dr. Lang recognized that he had a patient with the same facial characteristics. “Sure enough, the patient has Woodhouse-Sakati syndrome,” he said.

Patients with 22q11.2 deletion syndrome may have variable craniofacial features, and Dr. Lang’s clinic is following a number of patients with parkinsonism or other movement disorders as a consequence of this disorder.

Skin and related features, including telangiectasia, pigmentation, and nails, may suggest a diagnosis (eg, blue lunula in Wilson’s disease), as can the heart and other organs.

In addition to movements, other information can be gleaned from the eye during an examination, such as the presence of a sunflower cataract (which may suggest Wilson’s disease), a cherry-red spot on the retina (sialidosis), or choreoretinitis with maculopathy and optic atrophy (eg, subacute sclerosing panencephalitis).

During the neurologic examination, neurologists can assess behavior, language, cranial nerves, upper and lower motor neuron signs, eye movement disorders (eg, opsoclonus, oculogyric crisis, oculomotor apraxia, and supranuclear gaze palsies), and the phenomenology, distribution, and timing of movement disorders. In addition, a sensory exam may be useful. Parkinsonism with pure dorsal column sensory abnormalities, for example, is characteristic of POLG1 mutations.

Laboratory Tests

Many laboratory tests are available, and neurologists should use them selectively. As a visiting professor, Dr. Lang sees many patients who have undergone unnecessary tests. “Do not use a shotgun approach,” Dr. Lang said. “Be focused. Use them intelligently.”

Various metabolic pathways can be altered in patients with inborn errors of metabolism, thus creating risk of decompensation. Tests for patients suspected of having an inborn error of metabolism may include blood gases, anion gap, ammonia, glucose, lactate, uric acid, creatine kinase, amino acids, insulin, urine organic acids, ketones, and reducing substances.

Blood can be tested for heavy metals, vitamin deficiencies, and antibodies. CSF testing may be invaluable, including real-time quaking-induced conversion in patients with a suspected prion disorder or, when warranted, evaluation for extremely rare disorders such as testing for folate in patients with suspected cerebral folate deficiency.

Tissue biopsies, EEG, and electroretinogram may reveal useful information, and movement disorders laboratory testing, including assessments for functional movement disorder studies (eg, back-averaging) can help diagnose selected conditions, including psychogenic movement disorders.

Imaging

Neurologists should be comfortable looking at neuroimaging to identify patterns of atrophy, the presence of heavy metals, or the occurrence of calcium, for example. Some rare movement disorders require vascular imaging. “Unexpected normal findings should be a clue as well,” he said. Dr. Lang described a patient who was thought to have cerebral palsy, but the patient’s MRI was normal. The patient ultimately was found to have ADCY5-related dyskinesia.

Basal ganglia lesions and recurrent episodes of encephalopathy may indicate that a patient has biotin-responsive basal ganglia disease. “This is a critical disorder for us to recognize,” Dr. Lang said, because a patient who is treated early enough with biotin and thiamine can make a striking recovery.

Punctate changes throughout the posterior fossa, the cerebellum, and the pons, as well as other regions, are characteristic of a vascular abnormality called chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS), which can be treated with prednisone.

Genetic Testing

Genetic testing can help establish a diagnosis, but even in careful studies, whole exome sequencing may fail to provide a diagnosis in more than 40% of cases.

Problems with next-generation sequencing include incidental findings, variants of unknown significance, and the possibility of patients having two or more concomitant diseases or incompletely penetrant pathogenic variants. In addition, clinical exome sequencing does not detect repeat expansion disorders, copy number variations, structural variants, or abnormalities in the noncoding part of the genome.

A recently published case report further highlights the need for clinical expertise amid advances in genetic testing, Dr. Lang said. Zittel et al reported a case of a patient who came to a clinic with genetic test results showing that she had GCH1 and TH mutations. Clinically, however, neurologists determined that she had a functional movement disorder. When they went back to the original genetic testing laboratory, they discovered that the patient had doctored the form with the genetic test results. The authors deemed it a case of Munchausen syndrome by genetics.

Treatment

Neurologists should especially consider the possibility of movement disorders caused by autoimmune disease, infection, deficiency states, toxins, drugs, and treatable inborn errors of metabolism because treatment may alter the natural history of the disease and patient outcomes in these cases, Dr. Lang said.

Treatment of metabolic disorders typically requires a multidisciplinary team and may consist of substrate reduction, removal or enhanced clearance of toxic metabolites, replenishment of depleted metabolites, enzyme therapy, cell or organ replacement, and gene therapy.

Certain patients require long-term screening and follow-up to monitor for and prevent complications.

Avoiding infection, trauma, surgery, and vaccination may be important for patients with defects of small molecules. Patients with McLeod syndrome are at risk of transfusion reactions, and patients with ataxia-telangiectasia mutated gene variants should avoid ionizing radiation because of increased risk of malignancy. “If you are following patients with any of these rare disorders, you need to be aware of the long-term consequences,” Dr. Lang said.

In addition, online resources can provide useful information for neurologists who are evaluating patients with potentially rare movement disorders, including OMIM, GeneReviews, Orphanet, Face2Gene, SimulConsult, and MDSGene, Dr. Lang said.

—Jake Remaly

Suggested Reading

Gupta A, Lang AE. Psychogenic movement disorders. Curr Opin Neurol. 2009;22(4):430-436.

Sethi KD, Lang AE. Will new genetic techniques like exome sequencing obviate the need for clinical expertise? No. Mov Disord Clin Pract. 2017;4(1):39-41.

Ure RJ, Dhanju S, Lang AE, Fasano A. Unusual tremor syndromes: know in order to recognise. J Neurol Neurosurg Psychiatry. 2016;87(11):1191-1203.

Zittel S, Lohmann K, Bauer P, et al. Munchausen syndrome by genetics: Next-generation challenges for clinicians. Neurology. 2017;88(10):1000-1001.

MIAMI—When evaluating a patient with a movement disorder that seems to be rare, neurologists should employ their clinical expertise and consider a broad range of possible causes, said Anthony E. Lang, MD, Professor and Director of Neurology at the University of Toronto.

“Not everything is going to be diagnosed with whole exome sequencing,” Dr. Lang said at the First Pan American Parkinson’s Disease and Movement Disorders Congress. “Think much more broadly than that, or you are going to miss some important diagnoses and, in some cases, miss quite treatable diagnoses.”

A patient’s history, the physical and neurologic exam, and laboratory and genetic testing are important tools in developing a differential diagnosis. Once a diagnosis has been made, certain disorders may entail a risk of long-term complications that require preventive measures and surveillance.

Dr. Lang cochairs an annual session at the International Congress of Parkinson’s Disease and Movement Disorders that features video presentations of unusual cases. “The more you are aware of and the more you have seen, the more you may have an impact on helping the patient,” he said.

Think Broadly

Approximately 80% of rare diseases are genetic, and modern molecular genetic tests increasingly allow neurologists to make accurate diagnoses. Other causes of rare movement disorders include autoimmune disease, infection, neoplasms, environmental exposures, degenerative disorders, and deficiency states.

Camilo Toro, MD, a neurologist with the NIH Undiagnosed Diseases Program, advises that the classical phenotypes of rare diseases often represent the worst-case scenario, Dr. Lang said. Neurologists increasingly are recognizing broader phenotypic variability and milder forms of rare genetic diseases. In addition, the boundaries between pediatric and adult genetic disorders are blurred, and a patient with more than one genetic disorder may have a blended phenotype. It is also possible that a patient has a rare presentation of a common disorder.

Patient and Family History

Neurologists should consider how a movement disorder began (eg, triggers or precipitants) and whether a patient has other neurologic or general medical illnesses. A patient’s old images, videos, and laboratory tests may offer insights. Genetic counselors can be a valuable resource for neurologists who are interested in learning how to take a careful family history.

Possible sources of confusion about the inheritance of genetic disorders include de novo mutations, missed family history of a disorder (eg, if a relative has a mild manifestation), incomplete penetrance of dominant disorders, incorrect attribution of paternity, and the possibility of pseudodominance in inbred families with recessive disorders. Other types of inheritance include maternal inheritance, maternal imprinting (eg, in myoclonus dystonia), and uniparental disomy.

General and Neurologic Examinations

A patient’s habitus, stature, and facial dysmorphism may be informative. After seeing a patient with Woodhouse-Sakati syndrome in a case that had been presented at a conference, Dr. Lang recognized that he had a patient with the same facial characteristics. “Sure enough, the patient has Woodhouse-Sakati syndrome,” he said.

Patients with 22q11.2 deletion syndrome may have variable craniofacial features, and Dr. Lang’s clinic is following a number of patients with parkinsonism or other movement disorders as a consequence of this disorder.

Skin and related features, including telangiectasia, pigmentation, and nails, may suggest a diagnosis (eg, blue lunula in Wilson’s disease), as can the heart and other organs.

In addition to movements, other information can be gleaned from the eye during an examination, such as the presence of a sunflower cataract (which may suggest Wilson’s disease), a cherry-red spot on the retina (sialidosis), or choreoretinitis with maculopathy and optic atrophy (eg, subacute sclerosing panencephalitis).

During the neurologic examination, neurologists can assess behavior, language, cranial nerves, upper and lower motor neuron signs, eye movement disorders (eg, opsoclonus, oculogyric crisis, oculomotor apraxia, and supranuclear gaze palsies), and the phenomenology, distribution, and timing of movement disorders. In addition, a sensory exam may be useful. Parkinsonism with pure dorsal column sensory abnormalities, for example, is characteristic of POLG1 mutations.

Laboratory Tests

Many laboratory tests are available, and neurologists should use them selectively. As a visiting professor, Dr. Lang sees many patients who have undergone unnecessary tests. “Do not use a shotgun approach,” Dr. Lang said. “Be focused. Use them intelligently.”

Various metabolic pathways can be altered in patients with inborn errors of metabolism, thus creating risk of decompensation. Tests for patients suspected of having an inborn error of metabolism may include blood gases, anion gap, ammonia, glucose, lactate, uric acid, creatine kinase, amino acids, insulin, urine organic acids, ketones, and reducing substances.

Blood can be tested for heavy metals, vitamin deficiencies, and antibodies. CSF testing may be invaluable, including real-time quaking-induced conversion in patients with a suspected prion disorder or, when warranted, evaluation for extremely rare disorders such as testing for folate in patients with suspected cerebral folate deficiency.

Tissue biopsies, EEG, and electroretinogram may reveal useful information, and movement disorders laboratory testing, including assessments for functional movement disorder studies (eg, back-averaging) can help diagnose selected conditions, including psychogenic movement disorders.

Imaging

Neurologists should be comfortable looking at neuroimaging to identify patterns of atrophy, the presence of heavy metals, or the occurrence of calcium, for example. Some rare movement disorders require vascular imaging. “Unexpected normal findings should be a clue as well,” he said. Dr. Lang described a patient who was thought to have cerebral palsy, but the patient’s MRI was normal. The patient ultimately was found to have ADCY5-related dyskinesia.

Basal ganglia lesions and recurrent episodes of encephalopathy may indicate that a patient has biotin-responsive basal ganglia disease. “This is a critical disorder for us to recognize,” Dr. Lang said, because a patient who is treated early enough with biotin and thiamine can make a striking recovery.

Punctate changes throughout the posterior fossa, the cerebellum, and the pons, as well as other regions, are characteristic of a vascular abnormality called chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS), which can be treated with prednisone.

Genetic Testing

Genetic testing can help establish a diagnosis, but even in careful studies, whole exome sequencing may fail to provide a diagnosis in more than 40% of cases.

Problems with next-generation sequencing include incidental findings, variants of unknown significance, and the possibility of patients having two or more concomitant diseases or incompletely penetrant pathogenic variants. In addition, clinical exome sequencing does not detect repeat expansion disorders, copy number variations, structural variants, or abnormalities in the noncoding part of the genome.

A recently published case report further highlights the need for clinical expertise amid advances in genetic testing, Dr. Lang said. Zittel et al reported a case of a patient who came to a clinic with genetic test results showing that she had GCH1 and TH mutations. Clinically, however, neurologists determined that she had a functional movement disorder. When they went back to the original genetic testing laboratory, they discovered that the patient had doctored the form with the genetic test results. The authors deemed it a case of Munchausen syndrome by genetics.

Treatment

Neurologists should especially consider the possibility of movement disorders caused by autoimmune disease, infection, deficiency states, toxins, drugs, and treatable inborn errors of metabolism because treatment may alter the natural history of the disease and patient outcomes in these cases, Dr. Lang said.

Treatment of metabolic disorders typically requires a multidisciplinary team and may consist of substrate reduction, removal or enhanced clearance of toxic metabolites, replenishment of depleted metabolites, enzyme therapy, cell or organ replacement, and gene therapy.

Certain patients require long-term screening and follow-up to monitor for and prevent complications.

Avoiding infection, trauma, surgery, and vaccination may be important for patients with defects of small molecules. Patients with McLeod syndrome are at risk of transfusion reactions, and patients with ataxia-telangiectasia mutated gene variants should avoid ionizing radiation because of increased risk of malignancy. “If you are following patients with any of these rare disorders, you need to be aware of the long-term consequences,” Dr. Lang said.

In addition, online resources can provide useful information for neurologists who are evaluating patients with potentially rare movement disorders, including OMIM, GeneReviews, Orphanet, Face2Gene, SimulConsult, and MDSGene, Dr. Lang said.

—Jake Remaly

Suggested Reading

Gupta A, Lang AE. Psychogenic movement disorders. Curr Opin Neurol. 2009;22(4):430-436.

Sethi KD, Lang AE. Will new genetic techniques like exome sequencing obviate the need for clinical expertise? No. Mov Disord Clin Pract. 2017;4(1):39-41.

Ure RJ, Dhanju S, Lang AE, Fasano A. Unusual tremor syndromes: know in order to recognise. J Neurol Neurosurg Psychiatry. 2016;87(11):1191-1203.

Zittel S, Lohmann K, Bauer P, et al. Munchausen syndrome by genetics: Next-generation challenges for clinicians. Neurology. 2017;88(10):1000-1001.

MIAMI—When evaluating a patient with a movement disorder that seems to be rare, neurologists should employ their clinical expertise and consider a broad range of possible causes, said Anthony E. Lang, MD, Professor and Director of Neurology at the University of Toronto.

“Not everything is going to be diagnosed with whole exome sequencing,” Dr. Lang said at the First Pan American Parkinson’s Disease and Movement Disorders Congress. “Think much more broadly than that, or you are going to miss some important diagnoses and, in some cases, miss quite treatable diagnoses.”

A patient’s history, the physical and neurologic exam, and laboratory and genetic testing are important tools in developing a differential diagnosis. Once a diagnosis has been made, certain disorders may entail a risk of long-term complications that require preventive measures and surveillance.

Dr. Lang cochairs an annual session at the International Congress of Parkinson’s Disease and Movement Disorders that features video presentations of unusual cases. “The more you are aware of and the more you have seen, the more you may have an impact on helping the patient,” he said.

Think Broadly

Approximately 80% of rare diseases are genetic, and modern molecular genetic tests increasingly allow neurologists to make accurate diagnoses. Other causes of rare movement disorders include autoimmune disease, infection, neoplasms, environmental exposures, degenerative disorders, and deficiency states.

Camilo Toro, MD, a neurologist with the NIH Undiagnosed Diseases Program, advises that the classical phenotypes of rare diseases often represent the worst-case scenario, Dr. Lang said. Neurologists increasingly are recognizing broader phenotypic variability and milder forms of rare genetic diseases. In addition, the boundaries between pediatric and adult genetic disorders are blurred, and a patient with more than one genetic disorder may have a blended phenotype. It is also possible that a patient has a rare presentation of a common disorder.

Patient and Family History

Neurologists should consider how a movement disorder began (eg, triggers or precipitants) and whether a patient has other neurologic or general medical illnesses. A patient’s old images, videos, and laboratory tests may offer insights. Genetic counselors can be a valuable resource for neurologists who are interested in learning how to take a careful family history.

Possible sources of confusion about the inheritance of genetic disorders include de novo mutations, missed family history of a disorder (eg, if a relative has a mild manifestation), incomplete penetrance of dominant disorders, incorrect attribution of paternity, and the possibility of pseudodominance in inbred families with recessive disorders. Other types of inheritance include maternal inheritance, maternal imprinting (eg, in myoclonus dystonia), and uniparental disomy.

General and Neurologic Examinations

A patient’s habitus, stature, and facial dysmorphism may be informative. After seeing a patient with Woodhouse-Sakati syndrome in a case that had been presented at a conference, Dr. Lang recognized that he had a patient with the same facial characteristics. “Sure enough, the patient has Woodhouse-Sakati syndrome,” he said.

Patients with 22q11.2 deletion syndrome may have variable craniofacial features, and Dr. Lang’s clinic is following a number of patients with parkinsonism or other movement disorders as a consequence of this disorder.

Skin and related features, including telangiectasia, pigmentation, and nails, may suggest a diagnosis (eg, blue lunula in Wilson’s disease), as can the heart and other organs.

In addition to movements, other information can be gleaned from the eye during an examination, such as the presence of a sunflower cataract (which may suggest Wilson’s disease), a cherry-red spot on the retina (sialidosis), or choreoretinitis with maculopathy and optic atrophy (eg, subacute sclerosing panencephalitis).

During the neurologic examination, neurologists can assess behavior, language, cranial nerves, upper and lower motor neuron signs, eye movement disorders (eg, opsoclonus, oculogyric crisis, oculomotor apraxia, and supranuclear gaze palsies), and the phenomenology, distribution, and timing of movement disorders. In addition, a sensory exam may be useful. Parkinsonism with pure dorsal column sensory abnormalities, for example, is characteristic of POLG1 mutations.

Laboratory Tests

Many laboratory tests are available, and neurologists should use them selectively. As a visiting professor, Dr. Lang sees many patients who have undergone unnecessary tests. “Do not use a shotgun approach,” Dr. Lang said. “Be focused. Use them intelligently.”

Various metabolic pathways can be altered in patients with inborn errors of metabolism, thus creating risk of decompensation. Tests for patients suspected of having an inborn error of metabolism may include blood gases, anion gap, ammonia, glucose, lactate, uric acid, creatine kinase, amino acids, insulin, urine organic acids, ketones, and reducing substances.

Blood can be tested for heavy metals, vitamin deficiencies, and antibodies. CSF testing may be invaluable, including real-time quaking-induced conversion in patients with a suspected prion disorder or, when warranted, evaluation for extremely rare disorders such as testing for folate in patients with suspected cerebral folate deficiency.

Tissue biopsies, EEG, and electroretinogram may reveal useful information, and movement disorders laboratory testing, including assessments for functional movement disorder studies (eg, back-averaging) can help diagnose selected conditions, including psychogenic movement disorders.

Imaging

Neurologists should be comfortable looking at neuroimaging to identify patterns of atrophy, the presence of heavy metals, or the occurrence of calcium, for example. Some rare movement disorders require vascular imaging. “Unexpected normal findings should be a clue as well,” he said. Dr. Lang described a patient who was thought to have cerebral palsy, but the patient’s MRI was normal. The patient ultimately was found to have ADCY5-related dyskinesia.

Basal ganglia lesions and recurrent episodes of encephalopathy may indicate that a patient has biotin-responsive basal ganglia disease. “This is a critical disorder for us to recognize,” Dr. Lang said, because a patient who is treated early enough with biotin and thiamine can make a striking recovery.

Punctate changes throughout the posterior fossa, the cerebellum, and the pons, as well as other regions, are characteristic of a vascular abnormality called chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS), which can be treated with prednisone.

Genetic Testing

Genetic testing can help establish a diagnosis, but even in careful studies, whole exome sequencing may fail to provide a diagnosis in more than 40% of cases.

Problems with next-generation sequencing include incidental findings, variants of unknown significance, and the possibility of patients having two or more concomitant diseases or incompletely penetrant pathogenic variants. In addition, clinical exome sequencing does not detect repeat expansion disorders, copy number variations, structural variants, or abnormalities in the noncoding part of the genome.

A recently published case report further highlights the need for clinical expertise amid advances in genetic testing, Dr. Lang said. Zittel et al reported a case of a patient who came to a clinic with genetic test results showing that she had GCH1 and TH mutations. Clinically, however, neurologists determined that she had a functional movement disorder. When they went back to the original genetic testing laboratory, they discovered that the patient had doctored the form with the genetic test results. The authors deemed it a case of Munchausen syndrome by genetics.

Treatment

Neurologists should especially consider the possibility of movement disorders caused by autoimmune disease, infection, deficiency states, toxins, drugs, and treatable inborn errors of metabolism because treatment may alter the natural history of the disease and patient outcomes in these cases, Dr. Lang said.

Treatment of metabolic disorders typically requires a multidisciplinary team and may consist of substrate reduction, removal or enhanced clearance of toxic metabolites, replenishment of depleted metabolites, enzyme therapy, cell or organ replacement, and gene therapy.

Certain patients require long-term screening and follow-up to monitor for and prevent complications.

Avoiding infection, trauma, surgery, and vaccination may be important for patients with defects of small molecules. Patients with McLeod syndrome are at risk of transfusion reactions, and patients with ataxia-telangiectasia mutated gene variants should avoid ionizing radiation because of increased risk of malignancy. “If you are following patients with any of these rare disorders, you need to be aware of the long-term consequences,” Dr. Lang said.

In addition, online resources can provide useful information for neurologists who are evaluating patients with potentially rare movement disorders, including OMIM, GeneReviews, Orphanet, Face2Gene, SimulConsult, and MDSGene, Dr. Lang said.

—Jake Remaly

Suggested Reading

Gupta A, Lang AE. Psychogenic movement disorders. Curr Opin Neurol. 2009;22(4):430-436.

Sethi KD, Lang AE. Will new genetic techniques like exome sequencing obviate the need for clinical expertise? No. Mov Disord Clin Pract. 2017;4(1):39-41.

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“HOW AND WHEN UMBILICAL CORD GAS ANALYSIS CAN JUSTIFY YOUR OBSTETRIC MANAGEMENT”

MICHAEL G. ROSS, MD, MPH (MARCH 2017)

Cord gas analysis can be beneficial but has drawbacks

In his article, Dr. Ross makes a few statements I would like to challenge. He gives a list of indications for cord gas analysis, even with a vigorous newborn. I would suggest that doing so is not only unnecessary, but could get the delivering provider in trouble. Normal gases with a vigorous infant are not actionable, and neither are abnormal gases with a vigorous infant. The latter situation could, however, lower the bar for a lawsuit if any neurologic pathology is diagnosed in the child.

At our hospital, blood gas assessments generate charges of $90 for each arterial and venous sample. The author states that gases are helpful for staff education. If that is the purposeof measuring the gases when Apgar scores are normal, then the bill for the gases should be sent to the staff, not the patient or insurance company.

The precise reason for doing cord gases is to prove you are a good doctor. If the Apgar scores are low, a healthy set of gases shows that your interventions were timely and appropriate. Normal gases prevent lawsuits in this situation.

Joe Walsh, MD
Philadelphia, Pennsylvania

Dr. Ross responds

I appreciate the comments of Dr. Walsh, who suggests that we should not obtain cord gases in vigorous infants due, in part, to the hospital charges. There are several reasons for the indications detailed in the article. Although normal Apgar scores would appear to negate the potential for severe metabolic acidosis, Apgar scoring accuracy has been challenged in medical legal cases. Furthermore, there may be newborn complications (eg, pre-existing hypoxic injury, intraventricular bleed) that may not be recognized immediately, yet hypoxemia and acidosis may be alleged to have contributed to the outcome. The actual cost of running a blood gas sample is far less than the $90 hospital charges. Nevertheless, if hospital charge is a concern, I recommend that the physician obtain a cord gas sample immediately following the delivery and determine whether to run the sample after the 5-minute Apgar score is obtained.

Share your thoughts! Send your Letter to the Editor to [email protected]. Please include your name and the city and state in which you practice.

“HOW AND WHEN UMBILICAL CORD GAS ANALYSIS CAN JUSTIFY YOUR OBSTETRIC MANAGEMENT”

MICHAEL G. ROSS, MD, MPH (MARCH 2017)

Cord gas analysis can be beneficial but has drawbacks

In his article, Dr. Ross makes a few statements I would like to challenge. He gives a list of indications for cord gas analysis, even with a vigorous newborn. I would suggest that doing so is not only unnecessary, but could get the delivering provider in trouble. Normal gases with a vigorous infant are not actionable, and neither are abnormal gases with a vigorous infant. The latter situation could, however, lower the bar for a lawsuit if any neurologic pathology is diagnosed in the child.

At our hospital, blood gas assessments generate charges of $90 for each arterial and venous sample. The author states that gases are helpful for staff education. If that is the purposeof measuring the gases when Apgar scores are normal, then the bill for the gases should be sent to the staff, not the patient or insurance company.

The precise reason for doing cord gases is to prove you are a good doctor. If the Apgar scores are low, a healthy set of gases shows that your interventions were timely and appropriate. Normal gases prevent lawsuits in this situation.

Joe Walsh, MD
Philadelphia, Pennsylvania

Dr. Ross responds

I appreciate the comments of Dr. Walsh, who suggests that we should not obtain cord gases in vigorous infants due, in part, to the hospital charges. There are several reasons for the indications detailed in the article. Although normal Apgar scores would appear to negate the potential for severe metabolic acidosis, Apgar scoring accuracy has been challenged in medical legal cases. Furthermore, there may be newborn complications (eg, pre-existing hypoxic injury, intraventricular bleed) that may not be recognized immediately, yet hypoxemia and acidosis may be alleged to have contributed to the outcome. The actual cost of running a blood gas sample is far less than the $90 hospital charges. Nevertheless, if hospital charge is a concern, I recommend that the physician obtain a cord gas sample immediately following the delivery and determine whether to run the sample after the 5-minute Apgar score is obtained.

Share your thoughts! Send your Letter to the Editor to [email protected]. Please include your name and the city and state in which you practice.

“HOW AND WHEN UMBILICAL CORD GAS ANALYSIS CAN JUSTIFY YOUR OBSTETRIC MANAGEMENT”

MICHAEL G. ROSS, MD, MPH (MARCH 2017)

Cord gas analysis can be beneficial but has drawbacks

In his article, Dr. Ross makes a few statements I would like to challenge. He gives a list of indications for cord gas analysis, even with a vigorous newborn. I would suggest that doing so is not only unnecessary, but could get the delivering provider in trouble. Normal gases with a vigorous infant are not actionable, and neither are abnormal gases with a vigorous infant. The latter situation could, however, lower the bar for a lawsuit if any neurologic pathology is diagnosed in the child.

At our hospital, blood gas assessments generate charges of $90 for each arterial and venous sample. The author states that gases are helpful for staff education. If that is the purposeof measuring the gases when Apgar scores are normal, then the bill for the gases should be sent to the staff, not the patient or insurance company.

The precise reason for doing cord gases is to prove you are a good doctor. If the Apgar scores are low, a healthy set of gases shows that your interventions were timely and appropriate. Normal gases prevent lawsuits in this situation.

Joe Walsh, MD
Philadelphia, Pennsylvania

Dr. Ross responds

I appreciate the comments of Dr. Walsh, who suggests that we should not obtain cord gases in vigorous infants due, in part, to the hospital charges. There are several reasons for the indications detailed in the article. Although normal Apgar scores would appear to negate the potential for severe metabolic acidosis, Apgar scoring accuracy has been challenged in medical legal cases. Furthermore, there may be newborn complications (eg, pre-existing hypoxic injury, intraventricular bleed) that may not be recognized immediately, yet hypoxemia and acidosis may be alleged to have contributed to the outcome. The actual cost of running a blood gas sample is far less than the $90 hospital charges. Nevertheless, if hospital charge is a concern, I recommend that the physician obtain a cord gas sample immediately following the delivery and determine whether to run the sample after the 5-minute Apgar score is obtained.

Share your thoughts! Send your Letter to the Editor to [email protected]. Please include your name and the city and state in which you practice.