Medical Specialties Commons^™

Enhancing Depression Screening For The Adolescent Population In The Pediatric Emergency Department By Utilizing The Patient Health Questionnaire: A Quality Improvement Project, Chelsea Alvarez

DNP Projects

Background:

Mental health disparities make up 16% of the global burden of disease and injury in people ages 10-19. Many cases of mental health are unidentified and left untreated. Failure to address mental health disorders in children can lead to poor outcomes of health and well-being. Evidence-based practice supports the utilization of screening tools such as the Patient Health Questionnaire-9 (PHQ-9) for depression screening in adolescents ages 12-18 years.

Objectives:

By implementing the PHQ-9 in the pediatric emergency department, the goals for this quality improvement project were to increase staff knowledge on the PHQ-9, improve staff screening compliance, and to …

Ilae Classification And Definition Of Epilepsy Syndromes With Onset In Neonates And Infants: Position Statement By The Ilae Task Force On Nosology And Definitions, Sameer M. Zuberi, Elaine Wirrell, Elissa Yozawitz, Jo M. Wilmshurst, Nicola Specchio, Kate Riney, Ronit Pressler, Stephane Auvin, Pauline Samia, Edouard Hirsch

Paediatrics and Child Health, East Africa

The International League Against Epilepsy (ILAE) Task Force on Nosology andDefinitions proposes a classification and definition of epilepsy syndromes in theneonate and infant with seizure onset up to 2 years of age. The incidence of epi-lepsy is high in this age group and epilepsy is frequently associated with significantcomorbidities and mortality. The licensing of syndrome specific antiseizure medi-cations following randomized controlled trials and the development of precision,gene- related therapies are two of the drivers defining the electroclinical pheno-types of syndromes with onset in infancy. The principal aim of this proposal, con-sistent with the 2017 ILAE Classification of the Epilepsies, is …

Adolescent Connectedness: A Scoping Review Of Available Measures And Their Psychometric Properties, Ezra Too, Esther Chongwo, Adam Mabrouk, Amina Abubakar

Institute for Human Development, East Africa

Introduction: Adolescent connectedness, a key component of positive youth development, is associated with various positive health outcomes. Several measures have been developed to assess this construct. However, no study has summarized data on the existing measures of adolescent connectedness. We conducted this scoping review to fill this gap. We specifically aimed to: (i) identify the existing measures of adolescent connectedness, (ii) determine the most frequently used measures among the identified measures, and (iii) summarize the psychometric properties of these measures with a keen interest in highlighting their cross-cultural utility and validity.

Methods: We searched CINAHL, Embase, PsycInfo, PubMed, …

Methodology For Classification And Definition Of Epilepsy Syndromes With List Of Syndromes: Report Of The Ilae Task Force On Nosology And Definitions, Elaine C. Wirrell, Rima Nabbout, Ingrid E. Scheffer, Taoufik Alsaadi, Alicia Bogacz, Jacqueline A. French, Edouard Hirsch, Satish Jain, Sunao Kaneko, Pauline Samia

Paediatrics and Child Health, East Africa

Epilepsy syndromes have been recognized for >50 years, as distinct electroclini-cal phenotypes with therapeutic and prognostic implications. Nonetheless, noformally accepted International League Against Epilepsy (ILAE) classification ofepilepsy syndromes has existed. The ILAE Task Force on Nosology and Definitionswas established to reach consensus regarding which entities fulfilled criteria for anepilepsy syndrome and to provide definitions for each syndrome. We defined an ep-ilepsy syndrome as “a characteristic cluster of clinical and electroencephalographicfeatures, often supported by specific etiological findings (structural, genetic, met-abolic, immune, and infectious).” The diagnosis of a syndrome in an individualwith epilepsy frequently carries prognostic and treatment implications. Syndromesoften have age- …

International League Against Epilepsy Classification And Definition Of Epilepsy Syndromes With Onset In Childhood: Position Paper By The Ilae Task Force On Nosology And Definitions, Nicola Specchio, Elaine C. Wirrell, Ingrid E. Scheffer, Rima Nabbout, Kate Riney, Pauline Samia, Marilisa Guerreiro, Sam Gwer, Sameer M. Zuberi, Jo M. Wilmshurs

Paediatrics and Child Health, East Africa

The 2017 International League Against Epilepsy classification has defined a three- tiersystem with epilepsy syndrome identification at the third level. Although a syndromecannot be determined in all children with epilepsy, identification of a specific syn-drome provides guidance on management and prognosis. In this paper, we describethe childhood onset epilepsy syndromes, most of which have both mandatory seizuretype(s) and interictal electroencephalographic (EEG) features. Based on the 2017Classification of Seizures and Epilepsies, some syndrome names have been updatedusing terms directly describing the seizure semiology. Epilepsy syndromes beginningin childhood have been divided into three categories: (1) self- limited focal epilepsies,comprising four syndromes: self- …

Pediatric Seizure Management With Ketogenic Diet, Lydia Beller

The Eleanor Mann School of Nursing Undergraduate Honors Theses

Seizure disorders can be life altering and debilitating, especially for developing children. Children who have seizure disorders often require social, emotional, educational, and behavioral adjustments for children. Most medication regimes do not achieve complete management of seizure frequency and intensity. For children, seizure disorders can lead to unsuccessful education experiences, low self-esteem, severe injury, and difficulties with social skills and engagement. Discovering that a dietary means can reduce their frequency and intensity is groundbreaking. The ketogenic diet is a high protein, high fat, and almost no carbohydrate diet. The ketogenic diet is an effective non-pharmacological method for treating epilepsy (Karimzadeh, …

Childhood Mortality During And After Acute Illness In Africa And South Asia: A Prospective Cohort Study, Childhood Acute Illness And Nutrition (Chain) Network, Abdoulaye Hama Diallo, Abu Sadat Mohammad Sayeem Bin Shahid, Ali Fazal Khan, Ali Faisal Saleem, Benson O. Singa, Blaise Siezanga Gnoumou, Caroline Tigoi, Syed Asad Ali, Zaubina Kazi

Department of Paediatrics and Child Health

Background: Mortality among children with acute illness in low-income and middle-income settings remains unacceptably high and the importance of post-discharge mortality is increasingly recognised. We aimed to explore the epidemiology of deaths among young children with acute illness across sub-Saharan Africa and south Asia to inform the development of interventions and improved guidelines.
Methods: In this prospective cohort study, we enrolled children aged 2-23 months with acute illness, stratified by nutritional status defined by anthropometry (ie, no wasting, moderate wasting, or severe wasting or kwashiorkor), who were admitted to one of nine hospitals in six countries across sub-Saharan Africa and …

Early Neonatal Mortality Is Modulated By Gestational Age, Birthweight And Fetal Heart Rate Abnormalities In The Low Resource Setting In Tanzania – A Five Year Review 2015–2019, Aisa Shayo, Pendo Mlay, Emily Ahn, Hussein Kidanto, Michael Espiritu, Jeffrey Perlman

Obstetrics and Gynaecology, East Africa

Background: Early Neonatal mortality (ENM) (<7days) remains a signifcant problem in low resource settings. Birth asphyxia (BA), prematurity and presumed infection contribute signifcantly to ENM. The study objectives were to determine: frst, the overall ENM rate as well as yearly ENM rate (ENMR) from 2015 to 2019; second, the infuence of decreasing GA (<37weeks) and BW (<2500g) on ENM; third, the contribution of intrapartum and delivery room factors and in particular fetal heart rate abnormalities (FHRT) to ENM; and fourth, the Fresh Still Birth Rates (FSB) rates over the same time period.

Methods: Retrospective cohort study undertaken in a zonal referral teaching hospital located in Northern Tanzania. Labor and delivery room data were obtained from 2015 to 2019 and included BW, GA, fetal heart rate (FHRT) abnormalities, bag mask ventilation (BMV) during resuscitation, initial temperature, and antenatal steroids use. Abnormal outcome was ENM<7days. Analysis included t tests, odds ratios (OR), and multivariate regression analysis.

Results: The overall early neonatal mortality rate (ENMR) was 18/1000 livebirths over the 5 years and did not change signifcantly comparing 2015 to 2019. Comparing year 2018 to 2019, the overall ENMR decreased signifcantly (OR 0.62; 95% confdence interval (CI) …

Case Presentation: Pulpal Obliteration In Primary Dentition Of An 8-Year-Old, Differential Diagnosis Dental Dysplasia Type Ii., Tara Craven, Amy Burleson, Brenda S. Bohaty, Jenna Sparks, Neena Patel, Aparna Naidu

Posters

Tooth development anomalies can happen at many stages of cell development and are relatively common. These anomalies can be isolated findings however, they may also indicate minor or major associated syndromes and identification of these findings are essential to providing comprehensive care for patients. Dentin Dysplasia Type II is a rare autosomal dominant disease resulting from a disruption in the apposition stage of cell development. This disease affects the primary teeth and clinical manifestations can include bulbous crowns, cervical constriction, mild discoloration (amber color) and pulp obliteration. Permanent teeth tend to look typical but can demonstrate thistle-tube shaped pulps and/or …

Evaluation Of Infusion Reactions Associated With Intravenous Immune Globulin (Ivig) In Neonatal And Pediatric Patients, Katie Couch, Samantha Tatz

Providence Pharmacy PGY1 Program at Providence Portland and Providence St. Vincent Medical Centers 2022

No abstract provided.

Complex Chromosomal Rearrangement Involving 15q11‐Q13 Interstitial Triplication And Duplication: A New Case Report Of Dysmorphic And Neuropsychiatric Features, Lekha Chilakamarri, Lizbeth Mellin

MEDI 9331 Scholarly Activities Clinical Years

Our patient is the first to encompass the full spectrum of reported features related to tetrasomy of the Prader–Willi Angelman Critical Region. She has a complex chromosomal rearrangement including an interstitial triplication reported in twelve cases till date and a rare interstitial duplication reported in only four cases till date.

Spontaneous Pneumomediastinum In Children Is Not Associated With Esophageal Perforation, Kevin Roby, Catherine Barkach, Diane Studzinsk, Nathan M. Novotny, Begum Akay, Pavan Brahmamdam

Conference Presentation Abstracts

Purpose: We hypothesized that esophageal perforation is not a common etiology for spontaneous pneumomediastinum (SPM), and that SPM is a self-limited disease not requiring routine admission. Methods: We performed a retrospective review of patients, ages 0 to 21 years, diagnosed with SPM in one hospital system (five hospitals) from 2009 – 2019. Cases were identified using ICD9 and 10 codes and confirmed through chart review. Cases were excluded for trauma, severe infections, or subsequent development of SPM after admission for a separate diagnosis. Data regarding patient characteristics, diagnostic tests, and outcomes were collected, and summary statistics were performed. Results: We …

Cvst As A Rare Complication Of Acute Pediatric Covid-19, Erin Bolen, Jonathan Ermer, Mukta Sharma

Posters

A case report and literature-review derived case series of pediatric central venous sinus thrombosis as a late complication of COVID-19.

Wilms Tumor (Wt) Presenting With Spontaneous Necrosis And Clostridium Perfringens Co-Infection, Ronald Palmen, Abbey Elsbernd, Kristin Palmen, Kathyrn Kyler

Posters

Wilm’s Tumor (WT) is the most common renal malignancy of childhood. The initial presentation of WT may mimic infection or other malignancies with nonspecific symptoms including fever, abdominal/flank pain, or hematuria. We describe a case of WT with spontaneous necrosis obscured by overlying Clostridium perfringens infection. A previously healthy 5-year-old girl presented to the emergency department with a two-day history of flank pain and fevers. She was tachycardic (130 bpm), hypertensive (116/75), and febrile (101.7F). Her abdomen was distended with left-sided flank tenderness without a palpable mass. Initial laboratory testing revealed elevated CRP (70mg/dL) and leukocytosis (22.56 x 109 /L). …

Characteristics Of High-Acuity Patient Transfers To The Picu For Status Asthmaticus, Lilah Melzer, Marc Sycip, Jade B. Tam-Williams

Posters

No abstract provided.

A Rare Case Of Suspected Generalized Arterial Calcification Of Infancy (Gaci) In An Infant Presenting With Respiratory Failure In An Infant Presenting With Respiratory Failure And Arterial Calcification, Lilah Melzer, Catharine Kral, Bonnie Sullivan, Eric T. Rush, Erin Khan

Posters

No abstract provided.

Recurrent Primary Spontaneous Pneumothorax Masquerading As A Congenital Pulmonary Airway Malformation In A Young Female, Chandra Swanson, Justin Sobrino, Tolulope A. Oyetunji Md Mph, Erin Khan

Posters

Introduction: Spontaneous pneumothoraxes in children are uncommon, may be idiopathic or associated with underlying pulmonary disease, and can present management challenges. We present a 12-year-old female with recurrent right sided spontaneous pneumothorax in the setting of an asymptomatic SARS-Co-V2 (COVID) infection and imaging concerning for congenital lobar overinflation (CLO) versus congenital pulmonary airway malformation (CPAM), prompting surgical intervention. Case: A 12-year-old pre-menstrual female with remote history of eczema, asthma, and environmental allergies presented from an outside facility with four-days of progressive chest pain and dyspnea on exertion and diagnosis of right-sided spontaneous pneumothorax, improving after pigtail chest tube placement. Physical …

Assessing The Impact Of Camp Phever On Blood Phenylalanine Levels, Michelle Zelnick

Dissertations and Theses (Open Access)

Phenylketonuria (PKU) is a metabolic disorder that results in accumulation of the amino acid, phenylalanine, throughout the body. This can result in neurocognitive complications if individuals with this disease do not follow a low-protein diet. Camp PHEver is a weeklong summer camp that gives children with PKU an opportunity to obtain skills related to diet compliance, but also enhance their confidence, relationship development, and independence. Through learned skills and the strict diet regimen at camp, campers were found to have a statistically significant drop in phenylalanine (PHE) levels within a single attendance (mean decrease per year range = 2.1 to …

Health And Dental Insurance And Health Care Utilization Among Children, Adolescents, And Young Adults With Ckd: Findings From The Ckid Cohort Study., Andrea R. Molino, Maria Lourdes G. Minnick, Judith Jerry-Fluker, Jacqueline Karita Muiru, Sara A. Boynton, Susan L. Furth, Bradley A. Warady, Derek K. Ng, Chronic Kidney Disease In Children Study

Manuscripts, Articles, Book Chapters and Other Papers

Rationale & Objective: To understand the association between health and dental insurance status and health and dental care utilization, and their relationship with disease severity in a population with childhood-onset chronic kidney disease (CKD).

Study Design: Observational cohort study.

Settings & Participants: Nine hundred fifty-three participants contributing 4,369 person-visits (unit of analysis) in the United States enrolled in the Chronic Kidney Disease in Children (CKiD) Study from 2005 to 2019.

Exposures: Health insurance (private vs public vs none) and dental insurance (presence vs absence) self-reported at annual visits.

Outcomes: Self-reported suboptimal health care utilization in the past year, defined separately …

Outstanding Outcomes In Infants With Kmt2a-Germline Acute Lymphoblastic Leukemia Treated With Chemotherapy Alone: Results Of The Children's Oncology Group Aall0631 Trial, Erin M. Guest, John A. Kairalla, Joanne M. Hilden, Zoann E. Dreyer, Andrew J. Carroll, Nyla A. Heerema, Cindy Y. Wang, Meenakshi Devidas, Lia Gore, Wanda L. Salzer, Naomi J. Winick, William L. Carroll, Elizabeth A. Raetz, Michael Borowitz, Mignon L. Loh, Stephen P. Hunger, Patrick A. Brown

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Whole Exome Sequencing Identifies Potential Candidate Genes For Spina Bifida Derived From Mouse Models, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Chen-Han Wilfred Wu, Camille Nicolas-Frank, Kirollos Yousef, Kit Sing Au, Nina Mann, Dalia Pantel, Sophia Schneider, Luca Schierbaum, Thomas M Kitzler, Dervla M Connaughton, Youying Mao, Rufeng Dai, Makiko Nakayama, Jameela A Kari, Sherif El Desoky, Mohammed Shalaby, Loai A Eid, Hazem S Awad, Velibor Tasic, Shrikant M Mane, Richard P Lifton, Michelle A Baum, Shirlee Shril, Carlos R Estrada, Friedhelm Hildebrandt

Faculty, Staff and Student Publications

Spina bifida (SB) is the second most common nonlethal congenital malformation. The existence of monogenic SB mouse models and human monogenic syndromes with SB features indicate that human SB may be caused by monogenic genes. We hypothesized that whole exome sequencing (WES) allows identification of potential candidate genes by (i) generating a list of 136 candidate genes for SB, and (ii) by unbiased exome-wide analysis. We generated a list of 136 potential candidate genes from three categories and evaluated WES data of 50 unrelated SB cases for likely deleterious variants in 136 potential candidate genes, and for potential SB candidate …

Testicular Torsion Education: Improving Awareness Among Boys And Their Caregivers Regarding The Urgency Of Evaluating Scrotal Pain, Abby Taylor

Capstone Experience: Master of Public Health

Introduction: Testicular torsion is a urologic emergency that requires prompt medical evaluation and surgical intervention. The length of time from onset of the torsion to evaluation in the emergency department is often delayed due to lack of knowledge of the urgency of the situation amongst boys and their caregivers. We hypothesize that an animated educational video will increase awareness of the condition and prompt urgent evaluation in the emergency department.

Methods: A 5-minute animated educational video was created following a boy, Danny, as he develops testicular torsion. Four population groups: boys, parents, school nurses, and pediatricians, completed group-specific pre- and …

Sirolimus (Rapamycin) Induced Mucosal Healing In Anti-Tumor Necrosis Factor Refractory Pediatric Ulcerative Colitis, Richard Kellermayer, Andrew Chang, Kalyani Patel

Faculty, Staff and Students Publications

Sirolimus (rapamycin) has been sparsely reported in the treatment of pediatric ulcerative colitis (PUC). Mucosal healing has not been examined in responders to the drug. We describe a case of infliximab refractory PUC where rapamycin induced sustained clinical remission along with mucosal healing. We conclude that rapamycin should be positioned into the expanding treatment repertoire of PUC.

Prevalence And Clinical Correlates Of Antinuclear Antibody In Patients With Gastroparesis, Henry P Parkman, Mark L Van Natta, Ashima Makol, Madhusudan Grover, Richard W Mccallum, Zubair Malik, Kenneth L Koch, Irene Sarosiek, Braden Kuo, Robert J Shulman, Gianrico Farrugia, Laura Miriel, James Tonascia, Frank Hamilton, Pankaj J Pasricha, Thomas L Abell, Niddk Gastroparesis Clinical Research Consortium

Faculty, Staff and Students Publications

BACKGROUND: Autoimmunity may play a role in the pathogenesis of gastroparesis in a subset of patients. Antinuclear antibody (ANA) testing is often used to screen for autoimmune disorders.

AIMS: 1) Determine prevalence of a positive ANA in patients with gastroparesis; 2) Describe characteristics of idiopathic gastroparesis patients with positive ANA.

METHODS: Patients were assessed with gastric emptying scintigraphy (GES), symptom assessment via Patient Assessment of Upper GI Symptoms [PAGI-SYM], and blood tests-ANA, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP).

RESULTS: Positive ANA was seen in 148 of 893 (17%) patients with gastroparesis, being similar in idiopathic (16% of 536 patients), …

Evaluating Eosinophilic Colitis As A Unique Disease Using Colonic Molecular Profiles: A Multi-Site Study, Tetsuo Shoda, Margaret H Collins, Mark Rochman, Ting Wen, Julie M Caldwell, Lydia E Mack, Garrett A Osswald, John A Besse, Yael Haberman, Seema S Aceves, Nicoleta C Arva, Kelley E Capocelli, Mirna Chehade, Carla M Davis, Evan S Dellon, Gary W Falk, Nirmala Gonsalves, Sandeep K Gupta, Ikuo Hirano, Paneez Khoury, Amy Klion, Calies Menard-Katcher, John Leung, Vincent A Mukkada, Philip E Putnam, Jonathan M Spergel, Joshua B Wechsler, Guang-Yu Yang, Glenn T Furuta, Lee A Denson, Marc E Rothenberg, Consortium Of Eosinophilic Gastrointestinal Diseases Researchers (Cegir)

Faculty, Staff and Students Publications

BACKGROUND & AIMS: Colonic eosinophilia, an enigmatic finding often referred to as eosinophilic colitis (EoC), is a poorly understood condition. Whether EoC is a distinct disease or a colonic manifestation of eosinophilic gastrointestinal diseases (EGIDs) or inflammatory bowel disease (IBD) is undetermined.

METHODS: Subjects with EoC (n = 27) and controls (normal [NL, n = 20], Crohn's disease [CD, n = 14]) were enrolled across sites associated with the Consortium of Eosinophilic Gastrointestinal Disease Researchers. EoC was diagnosed as colonic eosinophilia (ascending ≥100, descending ≥85, sigmoid ≥65 eosinophils/high-power field) with related symptoms. Colon biopsies were subjected to RNA sequencing. Associations …

Association Of Physical Activity, Sports, And Screen Time With Adolescent Behaviors In Youth Who Visit The Pediatric Emergency Department, Rohit P Shenoi, James G Linakis, Julie R Bromberg, T Charles Casper, Rachel Richards, Thomas H Chun, Victor M Gonzalez, Michael J Mello, Anthony Spirito

Faculty, Staff and Students Publications

Moderate to vigorous physical activity (MVPA), sports, and reduced screen time are associated with favorable youth risk profiles. We evaluated the association of MVPA, sports, and screen time with adolescent behaviors among pediatric emergency department youth. Adolescents were assessed for alcohol/drug use, risky behavior, conduct disorder, and depressive mood. MVPA was activity for ≥5 days/week and ≥60 minutes/day. Increased screen time was ≥3 hours/day computer/TV use for non-schoolwork. Multivariable regression studied association between MVPA, sports, and increased screen time and outcomes adjusting for demographics and academic achievement. Older age and lower academic achievement were significantly associated with risky behaviors, conduct …

Health-Related Quality Of Life In Pediatric Acute Recurrent Or Chronic Pancreatitis: Association With Biopsychosocial Risk Factors, See Wan Tham, Fuchenchu Wang, Cheryl E Gariepy, Gretchen A Cress, Maisam A Abu-El-Haija, Melena D Bellin, Kate M Ellery, Douglas S Fishman, Tanja Gonska, Melvin B Heyman, Tom K Lin, Asim Maqbool, Brian A Mcferron, Veronique D Morinville, Jaimie D Nathan, Chee Y Ooi, Emily R Perito, Sarah Jane Schwarzenberg, Zachary M Sellers, Uzma Shah, David M Troendle, Michael Wilschanski, Yuhua Zheng, Ying Yuan, Mark E Lowe, Aliye Uc, Tonya M Palermo, International Study Group Of Pediatric Pancreatitis: In Search For A Cure (Insppire) And Consortium For The Study Of Chronic Pancreatitis, Diabetes And Pancreatic Cancer (Cpdpc)

Faculty, Staff and Students Publications

OBJECTIVES: Abdominal pain, emergency department visits, and hospitalizations impact lives of children with acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP). Data on health-related quality of life (HRQOL) in this population, however, remains limited. We aimed to evaluate HRQOL in children with ARP or CP; and test biopsychosocial risk factors associated with low HRQOL.

METHODS: Data were acquired from the INternational Study Group of Pediatric Pancreatitis: In search for a cuRE registry. Baseline demographic and clinical questionnaires, the Child Health Questionnaire (measures HRQOL) and Child Behavior Checklist (measures emotional and behavioral functioning) were completed at enrollment.

RESULTS: The sample included …

A D2 To D1 Shift In Dopaminergic Inputs To Midbrain 5-Ht Neurons Causes Anorexia In Mice, Xing Cai, Hailan Liu, Bing Feng, Meng Yu, Yang He, Hesong Liu, Chen Liang, Yongjie Yang, Longlong Tu, Nan Zhang, Lina Wang, Na Yin, Junying Han, Zili Yan, Chunmei Wang, Pingwen Xu, Qi Wu, Qingchun Tong, Yanlin He, Yong Xu

Faculty, Staff and Students Publications

Midbrain dopamine (DA) and serotonin (5-HT) neurons regulate motivated behaviors, including feeding, but less is known about how these circuits may interact. In this study, we found that DA neurons in the mouse ventral tegmental area bidirectionally regulate the activity of 5-HT neurons in the dorsal raphe nucleus (DRN), with weaker stimulation causing DRD2-dependent inhibition and overeating, while stronger stimulation causing DRD1-dependent activation and anorexia. Furthermore, in the activity-based anorexia (ABA) paradigm, which is a mouse model mimicking some clinical features of human anorexia nervosa (AN), we observed a DRD2 to DRD1 shift of DA neurotransmission on 5-HT

Signal-To-Noise Analysis Can Inform The Likelihood That Incidentally Identified Variants In Sarcomeric Genes Are Associated With Pediatric Cardiomyopathy, Leonie M Kurzlechner, Edward G Jones, Amy M Berkman, Hanna J Tadros, Jill A Rosenfeld, Yaping Yang, Hari Tunuguntla, Hugh D Allen, Jeffrey J Kim, Andrew P Landstrom

Faculty, Staff and Students Publications

Background: Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy and can predispose individuals to sudden death. Most pediatric HCM patients host a known pathogenic variant in a sarcomeric gene. With the increase in exome sequencing (ES) in clinical settings, incidental variants in HCM-associated genes are being identified more frequently. Diagnostic interpretation of incidental variants is crucial to enhance clinical patient management. We sought to use amino acid-level signal-to-noise (S:N) analysis to establish pathogenic hotspots in sarcomeric HCM-associated genes as well as to refine the 2015 American College of Medical Genetics (ACMG) criteria to predict incidental variant pathogenicity.

Methods and …

Use Of Mandibular Distraction Osteogenesis To Correct Micrognathia And Airway Obstruction In Newborn Female With Pierre Robin Sequence And Neonatal Abstinence Syndrome In Rural Appalachia, Seneca Williams, Adam Van Horn Md

Marshall Journal of Medicine

We present a case of Pierre Robin sequence and Neonatal Abstinence Syndrome (NAS) in a newborn female patient to highlight the surgical technique of mandibular distraction osteogenesis to correct airway obstruction due to micrognathia. The patient presented as a transport after delivery due to respiratory distress. She was noted to have a cleft palate and micrognathia. The absence of other dysmorphic features diagnosed her with non-syndromic Pierre Robin sequence. To solve her upper airway obstruction, mandibular distraction osteogenesis was performed. This procedure allowed the patient to be weaned from all respiratory support and nasogastric tube feeds by the end of …