Medical Specialties Commons^™

Opportunities For Linking Research To Policy: Lessons Learned From Implementation Research In Sexual And Reproductive Health Within The Anser Network, Anser, Emilomo Ogbe, Dirk Van Braeckel, Marleen Temmerman, Elin C. Larsson, Ines Keygnaert, Wilson De Los Reyes Aragón, Feng Cheng, Gunta Lazdane

Obstetrics and Gynaecology, East Africa

Background: The uptake of findings from sexual and reproductive health and rights research into policy-making remains a complex and non-linear process. Different models of research utilisation and guidelines to maximise this in policy-making exist, however, challenges still remain for researchers to improve uptake of their research findings and for policy-makers to use research evidence in their work.

Methods: A participatory workshop with researchers was organised in November 2017 by the Academic Network for Sexual and Reproductive Health and Rights Policy (ANSER) to address this gap. ANSER is a consortium of experienced researchers, some of whom have policy-making experience, working on …

Improving Breastfeeding In Rural Tanzania Using Bardach’S Policy Analysis Methodology, Katherine Skiff

Doctor of Nursing Practice (DNP) Final Clinical Projects, 2016-2019

Appropriate breastfeeding has the potential to have the broadest impact on childhood survival in children under five years (U5Y) compared to all other preventive interventions. The World Health Organization (WHO) and United Nations International Children’s Emergency Fund (UNICEF) recommend that all facilities providing maternal services and newborn care have a written policy addressing breastfeeding that is routinely disseminated to staff. Shirati hospital, in rural Tanzania, does not have a breastfeeding policy. Bardach’s 8-Fold Pathway for policy analysis methodology (adapted by Collins for health policy) was used to evaluate three promising breastfeeding policies to improve compliance with this recommendation. They include …

Use Of Telemedicine To Improve Cpap Non-Adherence In Patients With Obstructive Sleep Apnea, A Pilot Study, Kristin L. Hanger

Doctor of Nursing Practice (DNP) Final Clinical Projects, 2016-2019

Abstract

The aim of this project is to improve continuous positive airway pressure (CPAP) non-adherence in patients newly diagnosed with obstructive sleep apnea. Obstructive sleep apnea (OSA) is caused by recurrent collapse of the upper airway during sleep. Untreated, OSA is associated with co-morbidity and decreased quality of life. The standard for OSA treatment is CPAP. Adherence to CPAP is not optimal. Applying telemedicine technology to monitor adherence of CPAP treatment, allows for early intervention. Prior research has shown mixed results with use of telemedicine on non-adherence rates.

This is a pilot study using telemedicine to monitor adherence data to …

Rare But Recurrent Ros1 Fusions Resulting From Chromosome 6q22 Microdeletions Are Targetable Oncogenes In Glioma., Monika A Davare, Jacob J Henderson, Anupriya Agarwal, Jacob P Wagner, Sudarshan R Iyer, Nameeta Shah, Randy Woltjer, Romel Somwar, Stephen W Gilheeney, Ana Decarvalo, Tom Mikkelson, Erwin G Van Meir, Marc Ladanyi, Brian J Druker

Articles, Abstracts, and Reports

PURPOSE: Gliomas, a genetically heterogeneous group of primary central nervous system tumors, continue to pose a significant clinical challenge. Discovery of chromosomal rearrangements involving kinase genes has enabled precision therapy, and improved outcomes in several malignancies.

EXPERIMENTAL DESIGN: Positing that similar benefit could be accomplished for patients with brain cancer, we evaluated The Cancer Genome Atlas (TCGA) glioblastoma dataset. Functional validation of the oncogenic potential and inhibitory sensitivity of discovered ROS1 fusions was performed using three independent cell-based model systems, and an

RESULTS:

CONCLUSIONS: Our findings highlight that CNS tumors should be specifically interrogated for these rare intrachromosomal 6q22 microdeletion …

Clinical Pharmacology Of Tisagenlecleucel In B-Cell Acute Lymphoblastic Leukemia., Karen Thudium Mueller, Edward Waldron, Stephan A. Grupp, John E. Levine, Theodore W. Laetsch, Michael A. Pulsipher, Michael W. Boyer, Keith August, Jason Hamilton, Rakesh Awasthi, Andrew M. Stein, Denise Sickert, Abhijit Chakraborty, Bruce L. Levine, Carl H. June, Lori Tomassian, Sweta S. Shah, Mimi Leung, Tetiana Taran, Patricia A. Wood, Shannon L. Maude

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: Tisagenlecleucel is an anti-CD19 chimeric antigen receptor (CAR19) T-cell therapy approved for the treatment of children and young adults with relapsed/refractory (r/r) B-cell acute lymphoblastic leukemia (B-ALL).

PATIENTS AND METHODS: We evaluated the cellular kinetics of tisagenlecleucel, the effect of patient factors, humoral immunogenicity, and manufacturing attributes on its kinetics, and exposure-response analysis for efficacy, safety and pharmacodynamic endpoints in 79 patients across two studies in pediatric B-ALL (ELIANA and ENSIGN).

RESULTS: Using quantitative polymerase chain reaction to quantify levels of tisagenlecleucel transgene, responders (N = 62) had ≈2-fold higher tisagenlecleucel expansion in peripheral blood than nonresponders ( …

Vitamin C In The Treatment Of Septic Shock, Alyson O. Shaughnessy, Matthew Tieszen

Physician Assistant Capstones, 2016 to 2019

Objective:To assess the efficacy of improving outcomes of septic shock treatment with the addition of Vitamin C to standard treatment compared to standard therapy alone. To assess whether or not Vitamin C has a favorable outcome in the treatment of septic shock in terms of decreasing duration of vasopressor usage, reducing duration of intensive care unit (ICU) stay, and improving mortality.

Design: Systematic literature review.

Methods: Searches were conducted in PubMed and Google Scholar using the terms ascorbic acid, sepsis, septic shock, and vasopressors. In PubMed the following filters were used: humans only, clinical trials, studies within the past …

"C.H.A.M.P. Families": Description And Theoretical Foundations Of A Paediatric Overweight And Obesity Intervention Targeting Parents-A Single-Centre Non-Randomised Feasibility Study., Kristen Reilly, Trish Tucker, Jennifer D. Irwin Phd, Andrew Johnson, Erin S Pearson, Dirk E Bock, Shauna M. Burke

Paediatrics Publications

Childhood obesity represents a significant global health challenge, and treatment interventions are needed. The purpose of this paper is to describe the components and theoretical model that was used in the development and implementation of a unique parent-focussed paediatric overweight/obesity intervention. C.H.A.M.P. Families was a single-centre, prospective intervention offered to parents of children aged between 6⁻14 years with a body mass index (BMI) ≥85th percentile for age and sex. The intervention included: (1) eight group-based (parent-only) education sessions over 13-weeks; (2) eight home-based activities; and (3) two group-based (family) follow-up support sessions. The first section of the manuscript contains a …

Quantification Of Lutein + Zeaxanthin Presence In Human Placenta And Correlations With Blood Levels And Maternal Dietary Intake, Melissa Thoene

Theses & Dissertations

Lutein + zeaxanthin are carotenoids most recognized in eye health, but less is known about their status and transfer during pregnancy. While quantified in maternal and umbilical cord blood, they have never been analyzed in placenta tissue. Therefore, the purpose of this dissertation is to firstly quantify lutein + zeaxanthin concentrations in human placenta and to later correlate with levels in maternal dietary intake, maternal serum, and umbilical cord blood. Proportions of lutein + zeaxanthin will also be compared within diet, placenta, maternal serum, and umbilical cord blood among additionally analyzed carotenoids including lycopene, β-cryptoxanthin, α-carotene, and β-carotene. Lutein + …

Association Between Systemic Inflammation And Nutritional Compounds In Maternal-Infant Dyads, Jessica N. Snowden

Theses & Dissertations

Many events during pregnancy and early infancy can affect infant brain development. Inflammation during pregnancy, around delivery and during early infancy appears to adversely affect infant brain development. As the brain is rapidly growing and developing from conception through early childhood, it is particularly vulnerable during this time to inflammatory insults, which may be exacerbated or ameliorated by nutritional factors. Inflammatory compounds, as well as many nutritional compounds, can be either pro- or anti-inflammatory. These compounds are of particular importance in preterm infants, who are at risk of deficiency in anti-inflammatory micronutrients typically stored as a result of prenatal maternal …

Towards An In Vitro Model Of Testing Osteoblast Cellular Function In Contact With Various Surfaces, Raheleh Miralami

Theses & Dissertations

Past studies have shown that the success of total joint replacements depends on the biocompatibility of orthopaedic materials, which can be improved by modifying the implant surface. However, the exact roles of these modifications and their effective mechanisms are poorly understood. The objective of this study was to develop and evaluate a model system to investigate the impact of nano-structured surfaces, produced by the ion beam-assisted deposition (IBAD) technique, on biomarkers of osteointegration using an in vitro model. The IBAD technique was employed to deposit zirconium oxide (ZrO₂), Titanium oxide (TiO₂), and Titanium (Ti) nano-films on …

Changes In The Transverse Dimension Of The Nasomaxillary Complex Following Rapid Palatal Expansion – A Post-Retention, Cbct Evaluation, Allison Schubert

Theses & Dissertations

Purpose: The purpose of this investigation was to evaluate the immediate and long-term effects of palatal expansion on the transverse dimension of the nasomaxillary complex.

Materials and Methods: Twenty-eight patients’ CBCTs were obtained at four time points: pre-expansion (T₁), post-expansion (T₂), pre-treatment (T₃), and middle or end of orthodontic treatment (T₄). The patients’ age, sex, cervical vertebral maturation stage, and the number of instructed expander turns were recorded. Measurements of the nasal floor, nasal passage, maxillary sinus, maxillary first molar mesiolingual cusp, maxillary first molar palatal cusp, maxillary first molar buccal cortical …

Isolated Gonococcal Extensor Tenosynovitis, Cory Lebowitz, Jonas Matzon

Department of Orthopaedic Surgery Faculty Papers

Neisseria gonorrhoeae is a mucosal infection that has the propensity to disseminate, causing symptoms that commonly include arthralgias, skin lesions, fevers, chills, dysuria, genital discharge, septic arthritis, and/or tenosynovitis. Typically, gonococcal tenosynovitis affects the flexor sheath and is associated with arthralgias, skin lesions, or both. To the best of our knowledge, there has not been a documented case of isolated gonococcal extensor tenosynovitis. We report the case of a 16-year-old boy with isolated left upper-extremity gonococcal extensor tenosynovitis who was successfully treated with surgical debridement and antibiotic therapy.

Sleep Paralysis: Dreams, Demons And Rem-Atonia, Joshua G. Christensen

Capstones

Have you ever woken up from a dream only to find you can’t move? You’re paralyzed and, sometimes, you are even having vivid hallucinations. It’s terrifying, but harmless and very common. Regardless of it being so innocuous, Sleep Paralysis has inspired fear for centuries and many still believe it to be a supernatural phenomenon. This is, most likely, because most people who get Sleep Paralysis, don’t really know what it is. People just like me.

https://medium.com/@joshua.christensen/sleep-paralysis-dreams-demons-and-rem-atonia-27f46c2748cf

Clinical And Genetic Associations Of Renal Function And Diabetic Kidney Disease In The United Arab Emirates: A Cross-Sectional Study, Wael M. Osman, Herbert F. Jelinek, Guan K. Tay, Ahsan H. Khandoker, Kinda Khalaf, Wael Almahmeed, Mohamed H. Hassan, Habiba S. Alsafar

Research outputs 2014 to 2021

OBJECTIVES: Within the Emirati population, risk factors and genetic predisposition to diabetic kidney disease (DKD) have not yet been investigated. The aim of this research was to determine potential clinical, laboratory and reported genetic loci as risk factors for DKD.

RESEARCH DESIGN AND METHODS: Four hundred and ninety unrelated Emirati nationals with type 2 diabetes mellitus (T2DM) were recruited with and without DKD, and clinical and laboratory data were obtained. Following adjustments for possible confounders, a logistic regression model was developed to test the associations of 63 single nucleotide polymorphisms (SNPs) in 43 genetic loci with DKD (145 patients with …

Keep The Beat With Heart Failure Education: A Quality Improvement Project, Brenda L. Peterson

Master's Projects and Capstones

Abstract

Problem: Heart failure (HF), also known as congestive heart failure (CHF), is the number one diagnosis-related group (DRG) for people 65 years of age and older in the United States. This disease group is complicated and debilitating, requiring frequent hospitalizations with high mortality rates. The Joint Commission on Accreditation of Healthcare Organizations (JCAHO) has identified CHF as an area for improvement in hospitals.

Context: This was a quality improvement project for an integrated medical center in the Central Valley, California with over 19,000 HF patients. In 2018, for patients 65 years and older, HF is the third-most admitted DRG …

Surveillance, Prevention And Surgical Treatments For Hepatocellular Carcinoma, Kerui Xu

Theses & Dissertations

Liver cancer is the second-leading cause of cancer death, representing roughly 9.1% of all cancer mortality. Of all primary cancers of the liver, hepatocellular carcinoma (HCC) accounts for roughly 85%. HCC has been increasing in the U.S. and other countries. In particular, HCC places a huge burden on the Chinese population, as China alone consists of approximately 50% of the total HCC cases and deaths. In China, chronic hepatitis B virus (HBV) infection is the leading cause for developing HCC. The two challenges in prevention and control of HCC experienced in China are low rates of HCC screening among the …

Dietary Polyunsaturated Fatty Acids Regulate Mammary Tumor Growth And Metastasis By Modulating Tissue Microenvironments, Saraswoti Khadge

Theses & Dissertations

Omega (ω)-6 and ω-3 polyunsaturated fatty acids (PUFAs) are essential fatty acids (FAs) and the precursors of pro- and anti-inflammatory mediators respectively. Epidemiological studies have shown a lower incidence of breast cancer (BC) in the countries where long-chain (LC)-ω-3FAs consumption is higher; however, the role of ω-3FAs in BC growth and metastasis is poorly understood. We used isocaloric, isolipidic ω-6 and ω-3 (contains LC-ω-3FAs) diets and a pair-fed model to evaluate the effects of dietary PUFAs in mammary tumor metastasis. Our studies have resulted in several novel observations including that dietary LC-ω-3FAs modulate mammary gland (MG) microenvironments in non-tumor bearing …

Manganese-Enhanced Magnetic Resonance Imaging: Overview And Central Nervous System Applications With A Focus On Neurodegeneration, Ryan A. Cloyd, Shon A. Koren, Jose F. Abisambra

Physiology Faculty Publications

Manganese-enhanced magnetic resonance imaging (MEMRI) rose to prominence in the 1990s as a sensitive approach to high contrast imaging. Following the discovery of manganese conductance through calcium-permeable channels, MEMRI applications expanded to include functional imaging in the central nervous system (CNS) and other body systems. MEMRI has since been employed in the investigation of physiology in many animal models and in humans. Here, we review historical perspectives that follow the evolution of applied MRI research into MEMRI with particular focus on its potential toxicity. Furthermore, we discuss the more current in vivo investigative uses of MEMRI in CNS investigations and …

Precision Medicine In Pediatric Cancer: Current Applications And Future Prospects., Atif Ahmed, Divya S. Vundamati, Midhat S. Farooqi, Erin M. Guest

Manuscripts, Articles, Book Chapters and Other Papers

Precision oncologic medicine is an emerging approach for cancer treatment that has recently taken giant steps in solid clinical practice. Recent advances in molecular diagnostics that can analyze the individual tumor's variability in genes have provided greater understanding and additional strategies to treat cancers. Although tumors can be tested by several molecular methods, the use of next-generation sequencing (NGS) has greatly facilitated our understanding of pediatric cancer and identified additional therapeutic opportunities. Pediatric tumors have a different genetic make-up, with a fewer number of actionable targets than adult tumors. Nevertheless, precision oncology in the pediatric population has greatly improved the …

It's Getting Hot In Here: A Rare Case Of Heat Stroke In A Young Male., Oriana Ramirez, Yury Malyshev, Sonu Sahni

Touro College of Osteopathic Medicine (New York) Publications and Research

Heat stroke is a severe acute illness characterized by a core temperature greater than 40°C (104°F) and central nervous system manifestations, such as delirium, convulsions, or coma, resulting from exposure to environmental heat or strenuous physical activity. Early recognition and treatment including aggressive cooling and management of life-threatening systemic complications, such as cardiac arrest, rhabdomyolysis and acute renal failure, are essential to reduce morbidity and mortality. Herein we describe a case of heat stroke in a 23-year-old male who suffered cardiac arrest in which prompt initiation of cooling measures prevented permanent neurological sequelae, provided swift neurological recovery and resolution of …

Effect Of Ultrafiltration During Hemodialysis On Hepatic And Total-Body Water: An Observational Study., Claire J Grant, Trevor P Wade, Charles A Mckenzie, Guido Filler, Christopher W Mcintyre, Huang S. Shih-Han

Paediatrics Publications

Background

The hepatic circulation is involved in adaptive systemic responses to circulatory stress. However, it is vulnerable to both chronic hypervolemia and cardiac dysfunction. The influence of hemodialysis (HD) and ultrafiltration (UF) upon liver water content has been understudied. We conducted a detailed pilot study to characterize the effects of HD upon liver water content and stiffness, referenced to peripheral fluid mobilization and total body water.

Methods

We studied 14 established HD patients without liver disease. Magnetic resonance imaging (MRI) together with ultrasound-based elastography and bioimpedance assessment were employed to measure hepatic water content and stiffness, body composition, and water …

Author Correction: Extracting Intercellular Signaling Network Of Cancer Tissues Using Ligand-Receptor Expression Patterns From Whole-Tumor And Single-Cell Transcriptomes., Joseph X Zhou, Roberto Taramelli, Edoardo Pedrini, Theo Knijnenburg, Sui Huang

Articles, Abstracts, and Reports

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.

Metabolic Dependencies In Pancreatic Cancer., Ali Vaziri-Gohar, Mahsa Zarei, Jonathan R. Brody, Jordan M. Winter

Department of Surgery Faculty Papers

Pancreatic ductal adenocarcinoma (PDA) is a highly lethal cancer with a long-term survival rate under 10%. Available cytotoxic chemotherapies have significant side effects, and only marginal therapeutic efficacy. FDA approved drugs currently used against PDA target DNA metabolism and DNA integrity. However, alternative metabolic targets beyond DNA may prove to be much more effective. PDA cells are forced to live within a particularly severe microenvironment characterized by relative hypovascularity, hypoxia, and nutrient deprivation. Thus, PDA cells must possess biochemical flexibility in order to adapt to austere conditions. A better understanding of the metabolic dependencies required by PDA to survive and …

Bronchopulmonary Dysplasia: Comparison Between The Two Most Used Diagnostic Criteria, Enrique Gomez Pomar, Vanessa A. Concina, Aaron Samide, Philip M. Westgate, Henrietta S. Bada

Pediatrics Faculty Publications

Objectives: To compare the Shennan's and the consensus definition of Bronchopulmonary Dysplasia (BPD) from the National Institutes of Health (NIH) workshop and analyze specific risk factors associated with each definition.

Study design: Retrospective analysis of records of 274 infants admitted to a level IV intensive care unit. Infants were classified as having BPD or no BPD by both definitions. Differences in incidence and risk factors were analyzed. Statistical methods included descriptive statistics, comparative tests, and marginal logistic regression modeling.

Results: The estimated difference in prevalence was 32% [95% CI: (26%, 37%), (p < 0.0001)] between both criteria. The prevalence of BPD was 80% higher based on the NIH criteria [RR = 1.80; 95% CI: (1.58, 2.06)]. Infants with no BPD by the Shennan definition were breathing room air with or without positive or continuous pressure support and were most likely to be discharged home on oxygen [OR = 4.47, 95% CI: (1.20, 16.61), p = 0.03]. Gestational age, birth weight, …

Prefronto-Cerebellar Neuromodulation Affects Appetite In Obesity, Elena M. Marron, Raquel Viejo-Sobera, Guillem Cuatrecasas, Diego Redolar-Ripoll, Pilar García Lorda, Abhishek Datta, Marom Bikson, Greta Magerowksi, Miguel Alonso-Alonso

Publications and Research

Human neuroimaging studies have consistently reported changes in cerebellar function and integrity in association with obesity. To date, however, the nature of this link has not been studied directly. Emerging evidence suggests a role for the cerebellum in higher cognitive functions through reciprocal connections with the prefrontal cortex. The purpose of this exploratory study was to examine appetite changes associated with noninvasive prefronto-cerebellar neuromodulation in obesity. 12 subjects with class I obesity (mean BMI 32.9 kg/m2) underwent a randomized, single-blinded, sham-controlled, crossover study, during which they received transcranial direct current stimulation (tDCS; active/sham) aimed at simultaneously enhancing the activity of …

Standardized Outcome Measures For Pregnancy And Childbirth, An Ichom Proposal., Malini Anand Nijagal, Stephanie Wissig, Caleb Stowell, Elizabeth Olson, Isis Amer-Wahlin, Gouke Bonsel, Allyson Brooks, Matthew Coleman, Shamala Devi Karalasingam, James M N Duffy, Tracy Flanagan, Stefan Gebhardt, Meridith E Greene, Floris Groenendaal, J Ravichandran R Jeganathan, Tessa Kowaliw, Marije Lamain-De-Ruiter, Elliott Main, Michelle Owens, Rod Petersen, Irwin Reiss, Carol Sakala, Anna Maria Speciale, Rachel Thompson, Oluwakemi Okunade, Arie Franx

Articles, Abstracts, and Reports

BACKGROUND: Value-based health care aims to optimize the balance of patient outcomes and health care costs. To improve value in perinatal care using this strategy, standard outcomes must first be defined. The objective of this work was to define a minimum, internationally appropriate set of outcome measures for evaluating and improving perinatal care with a focus on outcomes that matter to women and their families.

METHODS: An interdisciplinary and international Working Group was assembled. Existing literature and current measurement initiatives were reviewed. Serial guided discussions and validation surveys provided consumer input. A series of nine teleconferences, incorporating a modified Delphi …

Taking Free Flap Surgery Abroad: A Collaborative Approach To A Complex Surgical Problem., Brian Swendseid, Md, Patrick Tassone, Md, Patrick Jean Gilles, Md, Magda Pavrette, Md, Matthew Stewart, Mercy Batatope, Donald Weed, Md, David Cognetti, Md, Adam J. Luginbuhl, Md, Joseph Curry, Md

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

Accessibility to health care, especially complex surgical care, represents one of the major health care disparities in developing countries. While surgical teams may be willing to travel to these areas to help address these needs, there are many logistical and ethical dilemmas inherent in this pursuit. We reviewed our approach to the establishment of the team-based surgical outreach program, wherein we perform head and neck free tissue transfer surgery in Haiti. We describe the challenges encountered in the delivery of surgical care as well as ethical dilemmas relevant to surgical outreach trips, highlighting an approach reliant on strong local cooperation. …

Agep Overlap Induced By Hydroxychloroquine: A Case Report And Literature Review., Christopher Mercogliano, Muhammad Khan, Catherine Lin, Elan Mohanty, Ryan Zimmerman

Reading Hospital Internal Medicine Residency

Acute Generalized Exanthematous Pustulosis (AGEP) is a rare drug reaction manifesting as pustular lesions with surrounding erythema following exposure. The disease is often self-limited and treatment is supportive. It may present in an atypical variant with vesicles that desquamate into erosions, which classifies the disease as an AGEP/SJS Overlap. This overlap syndrome can carry a substantial mortality rate and necessitate elevation in the level of care. Hydroxychloroquine has been implicated in cases of AGEP, and we present a case of AGEP/SJS overlap attributed to this common medication. Given the prevalence of drug eruptions, it is critical for the physicians to …

Don’T Wait: Find And Address Behavioral Health Issues, Patrick Triplett, Amy Nist

Books, Presentations, Posters, Etc.

Medical/Surgical units often lack behavioral health specialty resources to identify and support individuals with mental health and substance misuse conditions. Not addressing these issues increases costs, imposes undue burdens on staff, intensifies patient agitation, and impairs the care experience for individuals and their families. Our behavioral health teams proactively identify, assess and intervene on patients in our medical/surgical units while supporting and teaching medical/surgical staff how to more effectively interact with these populations.

Objectives
Objectives for Johns Hopkins:

• Describe some of the considerations that go into formation of a pro-active psychiatric consultation service
• Review metrics and purported quality measures used …

Genome-Wide Mega-Analysis Identifies 16 Loci And Highlights Diverse Biological Mechanisms In The Common Epilepsies., Bassel Abou-Khalil, Pauls Auce, Andreja Avbersek, Melanie Bahlo, David J. Balding, Thomas Bast, Larry Baum, Albert J. Becker, Felicitas Becker, Bianca Berghuis, Samuel F. Berkovic, Katja E. Boysen, Jonathan P. Bradfield, Lawrence C. Brody, Russell J. Buono, Ellen Campbell, Gregory D. Cascino, Claudia B. Catarino, Gianpiero L. Cavalleri, Stacey S. Cherny, Krishna Chinthapalli, Alison J. Coffey, Alastair Compston, Antonietta Coppola, Patrick Cossette, John J. Craig, Gerrit-Jan De Haan, Peter De Jonghe, Carolien G.F. De Kovel, Norman Delanty, Chantal Depondt, Orrin Devinsky, Dennis J. Dlugos, Colin P. Doherty, Christian E. Elger, Johan G. Eriksson, Thomas N. Ferraro, Martha Feuch, Ben Francis, Andre Franke, Jacqueline A. French, Saskia Freytag, Verena Gaus, Eric B. Geller, Christian Gieger, Tracy Glauser, Simon Glynn, David B. Goldstein, Hongsheng Gui, Youling Guo, Kevin F. Haas, Hakon Hakonarson, Kerstin Hallmann, Sheryl Haut, Erin L. Heinzen, Ingo Helbig, Christian Hengsbach, Helle Hjalgrim, Michele Iacomino, Andrés Ingason, Jennifer Jamnadas-Khoda, Michael R. Johnson, Reetta Kälviäinen, Anne-Mari Kantanen, Dalia Kasperavičiūte, Dorothee Kasteleijn-Nolst Trenite, Heidi E. Kirsch, Robert C. Knowlton, Bobby P.C. Koeleman, Roland Krause, Martin Krenn, Wolfram S. Kunz, Ruben Kuzniecky, Patrick Kwan, Dennis Lal, Yu-Lung Lau, Anna-Elina Lehesjoki, Holger Lerche, Costin Leu, Wolfgang Lieb, Dick Lindhout, Warren D. Lo, Iscia Lopes-Cendes, Daniel H. Lowenstein, Alberto Malovini, Anthony G. Marson, Thomas Mayer, Mark Mccormack, James L. Mills, Nasir Mirza, Martina Moerzinger, Rikke S. Møller, Anne M. Molloy, Hiltrud Muhle, Mark Newton, Ping-Wing Ng, Markus M. Nöthen, Peter Nürnberg, Terence J. O’Brien, Karen L. Oliver, Palotie Palotie, Faith Pangilinan, Sarah Peter, Slavé Petrovski, Annapurna Poduri, Michael Privitera, Rodney Radtke, Sarah Rau, Philipp S. Reif, Eva M. Reinthaler, Felix Rosenow, Josemir W. Sander, Thomas Sander, Theresa Scattergood, Steven C. Schachter, Christoph J. Schankin, Ingrid E. Scheffer, Bettina Schmitz, Susanne Schoch, Pak C. Sham, Jerry J. Shih, Graeme J. Sills, Sanjay M. Sisodiya, Lisa Slattery, Alexander Smith, David F. Smith, Michael C. Smith, Philip E. Smith, Anja C.M. Sonsma, Doug Speed, Michael R. Sperling, Bernhard J. Steinhoff, Ulrich Stephani, Remi Stevelink, Konstantin Strauch, Pasquale Striano, Hans Stroink, Rainer Surges, K. Meng Tan, Liu Lin Thio, G. Neil Thomas, Marian Todaro, Rossana Tozzi, Maria S. Vari, Ellen P.G. Vining, Frank Visscher, Sarah Von Spiczak, Nicole M. Walley, Yvonne G. Weber, Zhi Wei, Judith Weisenberg, Christopher D. Whelan, Peter Widdess-Walsh, Markus Wolff, Wolking Wolking, Wanling Yang, Federico Zara, Fritz Zimprich

Department of Neurology Faculty Papers

The epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report a genome-wide mega-analysis involving 15,212 individuals with epilepsy and 29,677 controls, which reveals 16 genome-wide significant loci, of which 11 are novel. Using various prioritization criteria, we pinpoint the 21 most likely epilepsy genes at these loci, with the majority in genetic generalized epilepsies. These genes have diverse biological functions, including coding for ion-channel subunits, transcription factors and a vitamin-B6 metabolism enzyme. Converging evidence shows that the common variants associated with epilepsy play a role in epigenetic regulation of gene expression in the …