Medical Specialties Commons^™

Apolipoprotein-Defined Lipoprotein Subclasses, Serum Apolipoproteins, And Carotid Intima-Media Thickness In T1d, Arpita Basu, Alicia J. Jenkins, Julie A. Stoner, Ying Zhang, Richrd L. Klein

Kinesiology and Nutrition Sciences Faculty Research

Circulating apolipoprotein-defined lipoprotein subclasses (ADLS) and apolipoproteins predict vascular events in the general and type 2 diabetes populations, but data in T1D are limited. We examined associations of ADLS, serum apolipoproteins, and conventional lipids with carotid intima-media thickness (IMT) measured contemporaneously and 6 years later in 417 T1D participants [men: n = 269, age 42 +/- 6 y (mean +/- SD); women: n = 148, age 39 +/- 8 y] in the Epidemiology of Diabetes Interventions and Complications study, the follow-up of the Diabetes Control and Complications Trial (DCCT). Date were analyzed by multiple linear regression stratified by sex, and …

We Are The Medicine, Madalynn Wendland, Toni Speed

Interprofessional Education

We are all healers— to ourselves, each other and the world around us. Whether you are on the path of becoming a health professional, or have been in practice for a long time, this half-day workshop will help you to view healing from a holistic perspective that draws from the ancient traditions while respecting contemporary science.

A New Mini-Navigation Tool Allows Accurate Component Placement During Anterior Total Hip Arthroplasty., Javad Parvizi Md, Jessica R. Benson, Jeffrey M. Muir

Department of Orthopaedic Surgery Faculty Papers

Introduction: Computer-assisted navigation systems have been explored in total hip arthroplasty (THA) to improve component positioning. While these systems traditionally rely on anterior pelvic plane registration, variances in soft tissue thickness overlying anatomical landmarks can lead to registration error, and the supine coronal plane has instead been proposed. The purpose of this study was to evaluate the accuracy of a novel navigation tool, using registration of the anterior pelvic plane or supine coronal plane during simulated anterior THA.

Methods: Measurements regarding the acetabular component position, and changes in leg length and offset were recorded. Benchtop phantoms and target measurement values …

Maternal Death And Delays In Accessing Emergency Obstetric Care In Mozambique, Leonardo Antonio Chavane, Patricia Bailey, Osvaldo Loquiha, Martinho Dgedge, Marc Aerts, Marleen Temmerman

Obstetrics and Gynaecology, East Africa

Background: Despite declining trends maternal mortality remains an important public health issue in Mozambique. The delays to reach an appropriate health facility and receive care faced by woman with pregnancy related complications play an important role in the occurrence of these deaths. This study aims to examine the contribution of the delays in relation to the causes of maternal death in facilities in Mozambique.

Methods: Secondary analysis was performed on data from a national assessment on maternal and neonatal health that included in-depth maternal death reviews, using patient files and facility records with the most comprehensive information available. Statistical models …

Utilization Of Prevention Of Mother-To-Child Transmission (Pmtct) Services Among Pregnant Women In Hiv Care In Uganda: A 24-Month Cohort Of Women From Pre-Conception To Post-Delivery., Rhoda K Wanyenze, Kathy Goggin, Sarah Finocchario-Kessler, Jolly Beyeza-Kashesya, Deborah Mindry, Josephine Birungi, Mahlet Woldetsadik, Glenn J Wagner

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: We assessed the uptake of prevention of mother-to-child transmission (PMTCT) services in a cohort of HIV infected women in care at The AIDS Support Organization Jinja and Kampala in Uganda, who were trying to conceive, over a period of 24 months, to inform the strengthening of PMTCT service access for women in care.

RESULTS: Of the 299 women 127 (42.5%) reported at least one pregnancy within 24 months; 61 women (48.0%) delivered a live child. Of the 55 who had a live birth at the first pregnancy, 54 (98.2%) used antenatal care (ANC) starting at 15.5 weeks of gestation …

Impact Of Prenatal Stress On Offspring Glucocorticoid Levels: A Phylogenetic Meta-Analysis Across 14 Vertebrate Species, Zaneta M. Thayer, Meredith A. Wilson, Andrew W. Kim, Adrian V. Jaeggi

Dartmouth Scholarship

Prenatal exposure to maternal stress is commonly associated with variation in Hypothalamic Pituitary Adrenal (HPA)-axis functioning in ofspring. However, the strength or consistency of this response has never been empirically evaluated across vertebrate species. Here we meta-analyzed 114 results from 39 studies across 14 vertebrate species using Bayesian phylogenetic mixed-efects models. We found a positive overall efect of prenatal stress on ofspring glucocorticoids (d’=0.43) though the 95% Highest Posterior Density Interval overlapped with 0 (−0.16–0.95). Meta-regressions of potential moderators highlighted that phylogeny and life history variables predicted relatively little variation in efect size. Experimental studies (d’=0.64) produced stronger efects than …

Supervising Ebt: What Content Do Workplace-Based Supervisors Cover And What Techniques Do They Use?, Shannon Dorsey, Michael D Pullmann, Suzanne E.U. Kerns, Esther Deblinger, Leah Lucid, Julie P Harrison, Kelly Thompson, Lucy Berliner

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Workplace-based clinical supervision in public mental health is an underutilized resource for supporting evidence- based treatments (EBTs) [1], despite the fact that supervisors may offer a cost-effective way to support clinician fidelity to EBT. Very little, however, is known about the content and techniques used by workplace-based supervisors [2]; particularly in the context of EBT implementation [3].

Expression Of Carbonic Anhydrase Iii, A Nucleus Pulposus Phenotypic Marker, Is Hypoxia-Responsive And Confers Protection From Oxidative Stress-Induced Cell Death., Elizabeth S. Silagi, Philip Batista, Irving Shapiro, Makarand V. Risbud

Department of Stem Cell Biology and Regenerative Medicine Faculty Papers & Presentations

The integrity of the avascular nucleus pulposus (NP) phenotype plays a crucial role in the maintenance of intervertebral disc health. While advances have been made to define the molecular phenotype of healthy NP cells, the functional relevance of several of these markers remains unknown. In this study, we test the hypothesis that expression of Carbonic Anhydrase III (CAIII), a marker of the notochordal NP, is hypoxia-responsive and functions as a potent antioxidant without a significant contribution to pH homeostasis. NP, but not annulus fibrosus or end-plate cells, robustly expressed CAIII protein in skeletally mature animals. Although CAIII expression was hypoxia-inducible, …

Non-Retrieval Of Inferior Vena Cava Filters As A Patient Safety Concern: Evaluation Of A New Process Improvement Project To Increase Retrieval Rates In A Vascular And Interventional Radiology Clinic, Joshua Brown, Jeffery Talbert, Ryan Pennington, Qiong Han, Driss Raissi

Pharmacy Practice and Science Faculty Publications

Background: Retrieval of inferior vena cava filters (IVCFs) is important to decrease the long-term risk of complications associated with indwelling devices. Our hospital experienced low retrieval rates and implemented a low-cost intervention and evaluation for quality improvement. The working hypothesis was that a simple, mailed letter intervention could increase retrieval rates by increasing patient and primary care provider knowledge of the need for retrieval.

Methods: For all prospective patients who received a retrievable IVCF during the intervention period from January 1, 2014 to February 29, 2016, patients and their primary care providers were mailed letters encouraging contact with the clinic …

Evaluation Of Vaccine Derived Poliovirus Type 2 Outbreak Response Options: A Randomized Controlled Trial, Karachi, Pakistan, Ali Faisal Saleem Dr, Mohammad Tahir Yousafzai, Ondrej Mach, Asia Khan, Farheen Quadri, William C. Weldon, M. Steven Oberste, Syed S. Zaidi, Muhammad M. Alam, Anita K. M. Zaidi

Department of Paediatrics and Child Health

Background: Outbreaks of circulating vaccine derived polioviruses type 2 (cVDPV2) remain a risk to poliovirus eradication in an era without live poliovirus vaccine containing type 2 in routine immunization. We evaluated existing outbreak response strategies recommended by the World Health Organization (WHO) for control of cVDPV2 outbreaks.
Methods: Seronegative children for poliovirus type 2 (PV2) at 22 weeks of life were assigned to one of four study groups and received respectively (1) one dose of trivalent oral poliovirus vaccine (tOPV); (2) monovalent OPV 2 (mOPV2); (3) tOPV together with a dose of inactivated poliovirus vaccine (IPV); or (4) mOPV2 with …

Systematic Review: Diversity Of Enrollment In Multiple Myeloma Drug Trials Among Different Ethnicities, Kaitlin Adams, Laura Guerrieri

Grace Peterson Nursing Research Colloquium

Systematic Review: Diversity of Enrollment in Multiple Myeloma Drug Trials Among Different Ethnicities

Kaitlin Adams & Laura Guerrieri

Faculty Sponsor: Dr. Joseph Tariman

Background & Significance: Multiple Myeloma is 2 to 3 times more prevalent in non-Hispanic Blacks (NHBs) when compared to Non-Hispanic Whites (NHWs), and the overall survival is also dissimilar between these two racial groups. Among patients 65 to 74 years of age, the 10-year Relative Survival Rates (RSRs) have been found to be statistically improved for NHWs (13.3% vs. 20.5%; p =p = .06). Since 2003, The FDA has approved 10 new drugs for myeloma treatment and …

Transabdominal Versus Transvaginal, Kyla Camille Gray

Grace Peterson Nursing Research Colloquium

Background: In the United States, there has been a 21% increase in the occurrence of premature births within the last two decades. These children are also more likely to require lifelong therapies, assistive technologies, mobility devices, and more supportive services throughout their time in school. Globally, preterm births, and their preventions, have become a topic of interest. One method that has had significant success rates is placing a cerclage to prevent cervical dilation; while simultaneously treating prophylactically for early delivery.

Objectives: The purpose of this integrative literature review was to focus on which placement of cerclages, transabdominal or transvaginal, …

Profiling Prostate Cancer Therapeutic Resistance, Cameron A. Wade, Natasha Kyprianou

Urology Faculty Publications

The major challenge in the treatment of patients with advanced lethal prostate cancer is therapeutic resistance to androgen-deprivation therapy (ADT) and chemotherapy. Overriding this resistance requires understanding of the driving mechanisms of the tumor microenvironment, not just the androgen receptor (AR)-signaling cascade, that facilitate therapeutic resistance in order to identify new drug targets. The tumor microenvironment enables key signaling pathways promoting cancer cell survival and invasion via resistance to anoikis. In particular, the process of epithelial-mesenchymal-transition (EMT), directed by transforming growth factor-β (TGF-β), confers stem cell properties and acquisition of a migratory and invasive phenotype via resistance to anoikis. Our …

Fenestration Of The Proximal Left Ovarian Vein., Mayank Patel, Joe Iwanaga, Rod J Oskouian, R Shane Tubbs

Articles, Abstracts, and Reports

A fenestration in the left ovarian vein was found in a fresh-frozen female cadaver. The opening did not have any vessels or additional anatomical structures passing through it. The ovarian vein is also referred to as the female gonadal vein. This type of anatomical variation is clinically relevant in procedures that deal with the manipulation of the gonadal veins, specifically conditions such as ovarian vein thrombosis, ovarian vein stenosis, and pelvic congestion syndrome.

The Current Trend Of The Translational Research Paradigm., Paul J Choi, R Shane Tubbs, Rod J Oskouian

Articles, Abstracts, and Reports

The translational research paradigm is a process of discovering basic science concepts and applying the knowledge in clinical practice, aiming to improve patient care. The stages involved in the paradigm form a complex network of shared knowledge amongst research collaborators, including patients. This nature of the paradigm allows those involved to work together effectively. However, the translational research paradigm is often overlooked by many scientists, educators, and research institutions. Hence, a large amount of comprehensive and hugely invested research projects fail to make a scientific impact. We aim to outline and describe this paradigm in order to aid in the …

The Value Of Mri In Distinguishing Subtypes Of Lipomatous Extremity Tumors Needs Reassessment In The Era Of Mdm2 And Cdk4 Testing, Sean Ryan, Julia Visgauss, David Kerr, Joshua Helmkamp, Nicholas Said, Emily Vinson, Patrick W. O'Donnell, Xuechan Li, Sin-Ho Jung, Diana Cardona, William Eward, Brian Brigman

Markey Cancer Center Faculty Publications

Introduction. Extremity lipomas and well-differentiated liposarcomas (WDLs) are difficult to distinguish on MR imaging. We sought to evaluate the accuracy of MRI interpretation using MDM2 amplification, via fluorescence in-situ hybridization (FISH), as the gold standard for pathologic diagnosis. Furthermore, we aimed to investigate the utility of a diagnostic formula proposed in the literature. Methods. We retrospectively collected 49 patients with lipomas or WDLs utilizing MDM2 for pathologic diagnosis. Four expert readers interpreted each patient's MRI independently and provided a diagnosis. Additionally, a formula based on imaging characteristics (i.e. tumor depth, diameter, presence of septa, and internal cystic change) …

Spsnet: Subpopulation-Sensitive Network-Based Analysis Of Heterogeneous Gene Expression Data., Abha Belorkar, Rajanikanth Vadigepalli, Limsoon Wong

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

BACKGROUND: Transcriptomic datasets often contain undeclared heterogeneity arising from biological variation such as diversity of disease subtypes, treatment subgroups, time-series gene expression, nested experimental conditions, as well as technical variation due to batch effects, platform differences in integrated meta-analyses, etc. However, current analysis approaches are primarily designed to handle comparisons between experimental conditions represented by homogeneous samples, thus precluding the discovery of underlying subphenotypes. Unsupervised methods for subtype identification are typically based on individual gene level analysis, which often result in irreproducible gene signatures for potential subtypes. Emerging methods to study heterogeneity have been largely developed in the context of …

Head Injury Risk And Car Seat Use For Children In Collisions, Peyton A. Schroeder, M.J. Skhurm, D. Fraser, K. Mcclafferty

Western Research Forum

Background: Motor vehicle collisions (MVCs) are the leading cause of death for people under the age of 17 years. Almost 80% of rear seat motor vehicle passengers are children. Previous studies have shown that a large fraction of injuries to children in MVCs involved the head and chest. In this study, the hypothesis that children under the age of eight using a forward-facing child restraint system (FFCRS) will have more severe head injuries than children using any other type of restraints in an MVC was tested.

Methods: Several datasets obtained from Transport Canada and Level 1 Pediatric Trauma Centre emergency …

Perioperative Gait Analysis After Total Hip Arthroplasty: Does Outpatient Surgery Compromise Patient Outcomes?, Bryn O. Zomar, Susan W. Hunter, Dianne Bryant, Brent A. Lanting, James L. Howard

Western Research Forum

Background: There has been a continuing trend towards decreasing the length of hospital stay for patients undergoing total hip arthroplasty (THA). Outpatient procedures, discharging patients on the same day as surgery, have now become possible yet little research has been done to examine the impact this might have on patients during early recovery. We aimed to investigate the impact of discharge time on gait and patient-reported outcomes in the early post-operative period.

Methods: We measured gait velocity, stride length, single-limb support and single-limb support symmetry preoperatively, at discharge from the hospital, and two-, six- and 12-weeks postoperatively. Participants also completed …

P16-Ki67-Hmb45 Immunohistochemical Profiling May Help Discriminate Between Spitzoid Melanoma And Atypical Spitz Nevi, Robert E. Garola, Vivekanand Singh

Posters

Background

When Spitz nevi have increased vertical thickness (>1.5 MM), show ulceration and deep seated mitosis, the differential diagnostic considerations of atypical Spitz nevus (ASN) or a Spitzoid melanoma (SM) enter into consideration. While expert consultation from a dermatopathologist is most often sought to resolve the differential diagnosis, it could be expensive and time consuming. Recently, the use of molecular genetic testing has also been advocated in the work group up of atypical melanocytic proliferations. On the contrary, immunohistochemistry is a more routinely used technique in most pathology centers may be more simple to apply. A single immunohistochemical marker …

Women's Experiences Of Mistreatment During Childbirth: A Comparative View Of Home- And Facility-Based Births In Pakistan, Waqas Hameed, Bilal Iqbal Avan

Community Health Sciences

Introduction: Respectful and dignified healthcare is a fundamental right for every woman. However, many women seeking childbirth services, especially those in low-income countries such as Pakistan, are mistreated by their birth attendants. The aim of this epidemiological study was to estimate the prevalence of mistreatment and types of mistreatment among women giving birth in facility- and home-based settings in Pakistan in order to address the lack of empirical evidence on this topic. The study also examined the association between demographics (socio-demographic, reproductive history and empowerment status) and mistreatment, both in general and according to birth setting (whether home- or facility-based). …

Mitochondrial Transplantation Strategies As Potential Therapeutics For Central Nervous System Trauma, Jenna L. Gollihue, Samir P. Patel, Alexander G. Rabchevsky

Spinal Cord and Brain Injury Research Center Faculty Publications

Mitochondria are essential cellular organelles critical for generating adenosine triphosphate for cellular homeostasis, as well as various mechanisms that can lead to both necrosis and apoptosis. The field of “mitochondrial medicine” is emerging in which injury/disease states are targeted therapeutically at the level of the mitochondrion, including specific antioxidants, bioenergetic substrate additions, and membrane uncoupling agents. Consequently, novel mitochondrial transplantation strategies represent a potentially multifactorial therapy leading to increased adenosine triphosphate production, decreased oxidative stress, mitochondrial DNA replacement, improved bioenergetics and tissue sparing. Herein, we describe briefly the history of mitochondrial transplantation and the various techniques used for both in …

Sex-Dependent Effects Of Developmental Lead Exposure On The Brain, Garima Singh, Vikrant Singh, Marissa Sobolewski, Deborah A. Cory-Slechta, Jay S. Schneider

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

The role of sex as an effect modifier of developmental lead (Pb) exposure has until recently received little attention. Lead exposure in early life can affect brain development with persisting influences on cognitive and behavioral functioning, as well as, elevated risks for developing a variety of diseases and disorders in later life. Although both sexes are affected by Pb exposure, the incidence, manifestation, and severity of outcomes appears to differ in males and females. Results from epidemiologic and animal studies indicate significant effect modification by sex, however, the results are not consistent across studies. Unfortunately, only a limited number of …

The Rna Binding Protein Sorbs2 Suppresses Metastatic Colonization Of Ovarian Cancer By Stabilizing Tumor-Suppressive Immunomodulatory Transcripts., Linjie Zhao, Wei Wang, Shuang Huang, Zhengnan Yang, Lian Xu, Qilian Yang, Xiu Zhou, Jinjin Wang, Qiuhong Shen, Chenlu Wang, Xiaobing Le, Min Feng, Nianxin Zhou, Wayne Bond Lau, Bonnie Lau, Shaohua Yao, Tao Yi, Xin Wang, Xia Zhao, Yuquan Wei, Shengtao Zhou

Department of Emergency Medicine Faculty Papers

BACKGROUND: Ovarian cancer constitutes one of the most lethal gynecologic malignancies for females. Currently, early detection strategies and therapeutic options for ovarian cancer are far from satisfactory, leading to high diagnosis rates at late stages and disease relapses. New avenues of therapy are needed that target key processes in ovarian cancer progression. While a variety of non-coding RNAs have been proven to regulate ovarian cancer metastatic progression, the functional roles of RNA-binding proteins (RBPs) in this process are less well defined.

RESULTS: In this study, we identify that the RBP sorbin and SH3 domain containing 2 (SORBS2) is a potent …

Biomarker And Clinical Trial Design Support For Disease-Modifying Therapies: Report Of A Survey Of The Eu/Us: Alzheimer's Disease Task Force, Jeffrey Cummings, Nick Fox, Bruno Vellas, Paul Aisen, Guogen Shan

Environmental & Global Health Faculty Research

BACKGROUND: Disease-modifying therapies are urgently needed for the treatment of Alzheimer’s disease (AD). The European Union/United States (EU/US) Task Force represents a broad range of stakeholders including biopharma industry personnel, academicians, and regulatory authorities. OBJECTIVES: The EU/US Task Force represents a community of knowledgeable individuals who can inform views of evidence supporting disease modification and the development of disease-modifying therapies (DMTs). We queried their attitudes toward clinical trial design and biomarkers in support of DMTs. DESIGN/SETTING/PARTICIANTS: A survey of members of the EU/US Alzheimer’s Disease Task Force was conducted. Ninety-three members (87%) responded. The details were analyzed to understand what …

Trauma-Focused Cognitive Behavioural Therapy For Young Children: Clinical Considerations, Elisabeth Pollio, Esther Deblinger

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Trauma-focused Cognitive Behavioural Therapy (TF-CBT) has been utilized with children of a wide age range and with diverse trauma experiences. This article will focus on the application of TF-CBT to young children. After presenting an overview of the model, challenges and developmentally-sensitive and creative strategies for engaging young children and their caregivers in TF-CBT PRACTICE components will be highlighted. A brief review of the strong empirical support for TF-CBT will then be provided.

Circulatory Insufficiency And Hypotension Related To The Ductus Arteriosus In Neonates, Danielle R Rios, Soume Bhattacharya, Philip T Levy, Patrick J Mcnamara

Paediatrics Publications

The biological role of the ductus arteriosus (DA) in neonates varies from an innocent bystander role during normal postnatal transition, to a supportive role when there is compromise to either systemic or pulmonary blood flow, to a pathological state in the presence of hemodynamically significant systemic to pulmonary shunts, as occurs in low birth weight infants. Among a wide array of clinical manifestations arising due to the ductal entity, systemic circulatory insufficiency and hypotension are of significant concern as they are particularly challenging to manage. An understanding of the physiologic interplay between the DA and the circulatory system is the …

Telomerase Reverse Transcriptase Promoter Alterations Across Cancer Types As Detected By Next-Generation Sequencing: A Clinical And Molecular Analysis Of 423 Patients., Maria Schwaederle, Nithya Krishnamurthy, Gregory A Daniels, David E Piccioni, Santosh Kesari, Paul T Fanta, Richard B Schwab, Sandip P Patel, Barbara A Parker, Razelle Kurzrock

Articles, Abstracts, and Reports

BACKGROUND: Telomerase reverse transcriptase (TERT) promoter mutations that may affect telomerase activity have recently been described in human malignancies. The purpose of this study was to investigate the clinical correlates of TERT promoter abnormalities in a large cohort of patients with diverse cancers.

METHODS: This study analyzed TERT promoter alterations and clinical characteristics of 423 consecutive patients for whom molecular testing by next-generation sequencing was performed between August 2014 and July 2015.

RESULTS: Of the 423 patients, 61 (14.4%) had TERT promoter mutations, and this placed TERT promoter alterations among the most prevalent aberrations after tumor protein 53 (TP53; 39%) …

Features And Outcomes Of Methamphetamine-Associated Pulmonary Arterial Hypertension., Roham T Zamanian, Haley Hedlin, Paul Greuenwald, David M Wilson, Joshua I Segal, Michelle Jorden, Kristina Kudelko, Juliana Liu, Andrew Hsi, Allyson Rupp, Andrew J Sweatt, Rubin Tuder, Gerald J Berry, Marlene Rabinovitch, Ramona L Doyle, Vinicio De Jesus Perez, Steven M Kawut

Articles, Abstracts, and Reports

RATIONALE: Although amphetamines are recognized as "likely" agents to cause drug- and toxin-associated pulmonary arterial hypertension (PAH), (meth)amphetamine-associated PAH (Meth-APAH) has not been well described.

OBJECTIVES: To prospectively characterize the clinical presentation, histopathology, and outcomes of Meth-APAH compared with those of idiopathic PAH (iPAH).

METHODS: We performed a prospective cohort study of patients with Meth-APAH and iPAH presenting to the Stanford University Pulmonary Hypertension Program between 2003 and 2015. Clinical, pulmonary angiography, histopathology, and outcomes data were compared. We used data from the Healthcare Cost and Utilization Project to estimate the epidemiology of PAH in (meth)amphetamine users hospitalized in California. …

Variant Intestinal-Cell Kinase In Juvenile Myoclonic Epilepsy, J. N. Bailey, L. De Nijs, D. Bai, T. Suzuki, H. Miyamoto, M. Tanaka, C. Patterson, Y.-C. Lin, M. T. Medina, M. E. Alonso, J. M. Serratosa, R. M. Durón, Viet-Hong Nguyen, J. E. Wight, I. E. Martínez‑Juárez, A. Ochoa, A. Jara-Prado, L. Guilhoto, Y. Molina, E. M. Yacubian, M. López‑Ruiz, Y. Inoue, S. Kaneko, S. Hirose, M. Osawa, H. Oguni, S. Fujimoto, T. M. Grisar, J. M. Stern, K. Yamakawa, B. Lakaye, A. V. Delgado-Escueta

Pharmacy Faculty Articles and Research

BACKGROUND

In juvenile myoclonic epilepsy, data are limited on the genetic basis of networks promoting convulsions with diffuse polyspikes on electroencephalography (EEG) and the subtle microscopic brain dysplasia called microdysgenesis.

METHODS

Using Sanger sequencing, we sequenced the exomes of six members of a large family affected with juvenile myoclonic epilepsy and confirmed cosegregation in all 37 family members. We screened an additional 310 patients with this disorder for variants on DNA melting-curve analysis and targeted real-time DNA sequencing of the gene encoding intestinal-cell kinase (ICK). We calculated Bayesian logarithm of the odds (LOD) scores for cosegregating variants, odds …