Author Interviews, Epilepsy, Genetic Research, JAMA, Pediatrics / 12.04.2019
Epilepsy: Genetic Testing Should Include Parental Sampling
MedicalResearch.com Interview with:
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Dr. Abou Tayoun[/caption]
Dr. Ahmad Abou Tayoun, PhD
Clinical Molecular Geneticist
Director of the Genetics Laboratory
Al Jalila Children’s
United Arab Emirates
MedicalResearch.com: What is the background for this study?
Response: In this study, we provide data in favor of using an exome-based testing approach, where parental samples can be readily accessible, for early onset epilepsy patients. The exome test includes all coding genes in the human genome. Although we perform exome sequencing on those patients, we demonstrate that a first tier analysis should include targeted interpretation of ~100 genes strongly associated with the disease. This analysis provides diagnoses in ~11% of the patients. Follow up parental testing on a limited number of patients (n=15) that had inconclusive results, revealed de novo (new mutations) variant status, leading to upgrade to positive reports in 7 patients and adding ~5% to the overall diagnostic yield.
Dr. Abou Tayoun[/caption]
Dr. Ahmad Abou Tayoun, PhD
Clinical Molecular Geneticist
Director of the Genetics Laboratory
Al Jalila Children’s
United Arab Emirates
MedicalResearch.com: What is the background for this study?
Response: In this study, we provide data in favor of using an exome-based testing approach, where parental samples can be readily accessible, for early onset epilepsy patients. The exome test includes all coding genes in the human genome. Although we perform exome sequencing on those patients, we demonstrate that a first tier analysis should include targeted interpretation of ~100 genes strongly associated with the disease. This analysis provides diagnoses in ~11% of the patients. Follow up parental testing on a limited number of patients (n=15) that had inconclusive results, revealed de novo (new mutations) variant status, leading to upgrade to positive reports in 7 patients and adding ~5% to the overall diagnostic yield.
Dr. Li[/caption]
Fuzhong Li, Ph.D.
Senior Scientist
Oregon Research Institute
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Injurious falls among community-dwelling older adults are a serious public health and cost-bearing problem worldwide.Exercise has been shown to reduce falls and injurious falls among older adults. However, evidence is limited with regard to the type of exercise interventions that are most effective, without exacerbating the risk in some individuals, in reducing injurious falls.
This study addresses this knowledge gap in the field of falls prevention. Findings from this study showed that a six-month Tai Ji Quan program reduced the incidence of injurious falls among frail elderly by 53% compared to a regular (multimodal) exercise intervention. The effect of the Tai Ji Quan intervention was shown to be robust, and still evident at follow-up examinations six months after the study.
Dr. Jeremiah Schuur[/caption]
Jeremiah Schuur, MD, MHS FACEP
Physician-in-chief for emergency medicine at Lifespan and Chair of the department of Emergency Medicine
Brown
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Firearm injury is a leading cause of injury and death in the United States. Many physician groups advocate for evidence-based policies, such as universal background checks, to reduce this morbidity and mortality.
We studied contributions of the 25 largest political action committees (PACs) affiliated with physician professional groups during the 2016 election cycle and found that almost all gave more money to political candidates who voted against universal background checks and were endorsed by the NRA.
These PACs contributed to more than twice as many incumbent US Senate candidates who voted against an amendment to expand firearm background checks than those who voted for the amendment. In the US House of Representatives, the pattern of giving was similar. These PACs gave $2.8 million more to candidates who did not sponsor a bill to expand background checks than to those who did. Finally, these physician PACs were more than twice as likely to contribute to and gave almost $1.5 million dollars more to candidates rated A by the NRA.
Dawn Wiest, PhD
Director, Action Research & Evaluation
Camden Coalition of Healthcare Providers
MedicalResearch.com: What is the background for this study?
Response: Understanding the role of care transitions after hospitalization in reducing avoidable readmissions, the Camden Coalition launched the 7-Day Pledge in 2014 in partnership with primary care practices in Camden, NJ to address patient and provider barriers to timely post-discharge primary care follow-up. To evaluate whether our program was associated with lower hospital readmissions, we used all-payer hospital claims data from five regional health systems. We compared readmissions for patients who had a primary care follow-up within seven days with similar patients who had a later or no follow-up using propensity score matching.
Josephine Funck Bilsteen, MSc
Department of Pediatrics, Hvidovre University Hospital, Hvidovre,
Section of Epidemiology, Department of Public Health
University of Copenhagen
Copenhagen, Denmark
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: The background of this study is that there is increasing recognition of the longer-term health and social outcomes associated with preterm birth such as independent living, quality of life, self-perception and socioeconomic achievements. However, much less is known about differences in education and income among adults born at different gestational weeks in the term period.
In this study shorter gestational duration, even within the term range, was associated with lower chances of having a high personal income and having completed a secondary or tertiary education at age 28 years. This is the first study to show that adults born at 37 and 38 completed weeks of gestation had slightly lower chances of having a high income and educational level than adults born at 40 completed weeks of gestation.