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Cultural Humility In Patient Education: Development Of A Nutrition-Related Simulation For Nursing Students, Theresa G. Schnable, Sylvia Peña, Juanita T. Garcia, Marilyn Frenn

College of Nursing Faculty Research and Publications

Introduction:

The Latinx community is disproportionately impacted by social and structural inequities such as food insecurity and culturally and linguistically appropriate resources. To address a gap in culturally appropriate nutrition education with Latinx individuals among baccalaureate nursing students, a simulation learning experience (SLE) was developed.

Methodology:

The SLE was designed using best practice standards by faculty experts and reviewed by consultants. After the SLE, students and faculty provided feedback regarding simulation design and implementation.

Results:

Participants reported improved knowledge and confidence when providing culturally appropriate nutrition education and valued working with an interpreter.

Discussion:

This innovative strategy using simulation offers …

Mortality Among Transgender Persons: A Taiwan Matched-Population And Sibling-Comparison Cohort Study, Chih-Wei Hsu, Yang-Chieh Brian Chen, Liang-Jen Wang, Mu-Hong Chen, Yao-Hsu Yang, Chih-Sung Liang, Po-Yen Chen, Edward Chia-Cheng Lai

Children’s Nutrition Research Center Staff Publications

Background: Transgender persons have been reported to experience excess mortality, but evidence is dominated by Western cohorts and seldom addresses familial confounding.

Methods: We conducted a nationwide, retrospective cohort study using two prespecified comparison designs: matched population controls (1:4, matched on legal sex and birth date) and within-family cisgender sibling comparisons. Transgender persons were identified by ≥2 psychiatrist-recorded gender identity disorder diagnoses during 2001-2021; cohort entry required age ≥6 years. Participants were followed until death or December 31, 2022. We compared all-cause, external-cause (suicide and accidents), and internal-cause mortality using Cox regression adjusted for sociodemographics and medical comorbidity.

Findings: Among …

Concerns Regarding The Standard Deviation Of Individual Responses For Assessing Treatment Response Heterogeneity, Aaron R Caldwell, David B Allison, Andrew W Brown, Gary L Gadbury, Thirupathi Reddy Mokalla, R Drew Sayer, Andrew D Vigotsky

Children’s Nutrition Research Center Staff Publications

The estimation of treatment response heterogeneity (TRH) is increasingly important as medicine moves toward personalized approaches. While various statistical methods have been proposed to quantify TRH in parallel-group trials, the standard deviation of individual responses (SDIR) has gained prominence within physiological research. This method is intended to quantify individual response variation by comparing standard deviations of change scores between intervention and control groups. We acknowledge that SDIR represents an improvement over many other flawed approaches that often involve responder counting. However, SDIR has critical limitations: 1) it cannot overcome the fundamental problem of causal inference because the correlation between potential …

Attitudes Of New York State Pediatric Dentists Toward Treating Hasidic Patients, Gideon Turk Dmd, Michelle Goldstein Dmd

The New York State Dental Journal

Purpose: This survey investigated variations in practices among pediatric dentists and dental residents in New York State concerning the treatment of Hasidic, Haredi or Ultra-Orthodox Jewish (HHUOJ) patients.

Methods and Results: The 16-question survey was distributed to 641 AAPD pediatric dentists and residents via email. Results were analyzed across six variables using the Mann-Whitney U Test. Statistically significant differences were observed in the responses to 14 of 16 questions.

Conclusion: The study revealed statistically significant variations in various aspects related to the treatment of HHUOJ patients, suggesting the need for further education among providers in New York State.

Structural-Level Stigma Within Emergency Food Assistance Programs: Perspectives From Delaware And Pennsylvania, Mckenna M Halverson, Evyn Y Appel, Valerie A Earnshaw, Raquelle Powell, Grace Sands, Nithila Chrisostam, Shreela V Sharma, Allison Karpyn

Faculty, Staff and Student Publications

To characterize the ways in which structural stigma manifests within emergency food program settings.

Methods : We conducted 30-minute semi-structured interviews with 18 emergency food program clients in Pennsylvania and Delaware between August and December of 2024. The discussion guide included open-ended questions regarding client experiences of structural stigma, with an emphasis on issues of access and quality. Demographic data and household food insecurity (Hunger Vital Sign) were also captured. A hybrid inductive and deductive coding approach was used to analyze the data.

Results : Structural stigma is a persistent issue within emergency food program environments, impacting both participant access …

Mitigating Food Insecurity-Related Stigma: A Review Of Intervention Strategies, Evyn Y Appel, Mckenna M Halverson, Valerie A Earnshaw, Tania Cruz Cordero, Maya Rozin, Raquelle Powell, Grace Sands, Nithila Chrisostam, Sarah E Katz, Shreela V Sharma, Allison Karpyn

Faculty, Staff and Student Publications

Objective: To characterize intervention strategies addressing food insecurity-related stigma implemented in federal nutrition programs (e.g. SNAP, WIC) and emergency food programs (e.g. food pantries, food cupboards) within high income countries.

Methods: Six databases (PubMed, PsychINFO, Web of Science, CINAHL, Sociological Abstracts, Dissertations and Theses Global) and the Internet were searched through September 2024. Data on study characteristics and stigma intervention characteristics were extracted with a structured template. Descriptive statistics and thematic analysis were used.

Results: The review found 46 intervention strategies across 18 articles. The majority of articles were based in the United States (89.9%) with the remaining portion from …

Evaluating Interactions Between National And Subnational Governments In The Czech Republic For Physical Activity Policy Development And Implementation, Michael Pratt, Juliana Mejía-Grueso, Eugen Resendiz, Aleš Jakubec, Zdeněk Hamřík, Deborah Salvo, Andrea Ramírez Varela, Josef Mitáš

Faculty, Staff and Student Publications

Background: Most countries now have physical activity (PA) policies but translating them into action at national and subnational levels remains poor. To better understand the disconnect, the "Interaction between National and Local Government Levels in Development and Implementation of Physical Activity Policies Tool" (INTEGRATE-PA-Pol) was developed by the Global Observatory for Physical Activity (GoPA!).

Methods: The Czech Republic was chosen as a European pilot site based on existing research capacity and relationships. The INTEGRATE-PA-Pol tool was translated and adapted for use in the country. This questionnaire-based tool has 8 components assessing government levels, political system, and sectors across the 5 …

N Y State Dent J November 2025

The New York State Dental Journal

In the November 2025 issue, the reader will find the following feature articles:

• "Attitudes of New York State Pediatric Dentists Toward Treating Hasidic Patients"
• "A Qualitative Assessment of the Role of Dental Specialists in U.S. Opioid Epidemic"
• "Revolutionizing Dental Operatories"
• "An Update on Non-Cigarette Nicotine-Containing Products and the Periodontal Patient"

This issue includes regular columns with regional news impacting the New York membership including: editorial and legal columns, association activities, component news, continuing education opportunities, and classifieds.

The 10-Year Status Of Pediatric Gastroenterologists' Perception Of Their Roles In The Management Of Childhood Obesity., Sara Karjoo, Senthilkumar Sankararaman, Fotini Tania Mitsinikos, Marwa Abu El Haija, Sheela Mahendra, Ayesha Baig, Ruba A. Abdelhadi, Ruben E. Quiros-Tejeira, Timothy Sentongo

Manuscripts, Articles, Book Chapters and Other Papers

In 2013, a survey of NASPGHAN members on their involvement in managing pediatric obesity revealed that most pediatric gastroenterologists viewed their roles as primarily supportive, focusing on the management of obesity-related gastrointestinal comorbidities. This 10-year follow-up survey, which targeted pediatric gastroenterology programs and practices, found similar perceptions, along with an increased interest in learning about obesity pharmacotherapy. Additionally, most programs and practices reported limited access to dedicated dietitians, a lack of funding, and a desire for greater institutional support for multidisciplinary programs addressing obesity. Notably, none of the funded programs cited philanthropy as a source of funding. These findings underscore …

Replication-Competent, Tumor-Specific Immuno-Gene Vectors Allow For Exchange Of Transgenes And Lead To Viral Persistence Following Iv Administration, Lee S Rosen, Christian Ottensmeier, Maria Hawkins, Aung Naing, Guru Sonpavde, Brian A Van Tine, Eileen E Parkes, Sean M O'Cathail, Rui-Ru Ji, Matthew Thomas, Andrea Stacey, Maria Stella Sasso, Oliver Rosen

Faculty, Staff and Student Publications

Introduction: Enadenotucirev (EnAd) and successor transgene-armed Tumor-Specific Immuno-Gene (T-SIGn) vectors are replication-competent, blood-stable viral vectors that traffic to tumor sites following intravenous (IV) administration. Following initial proof of mechanism for this immunotherapy modality, there is a need to identify a safe dosing approach, understand whether transgenes affect tolerability, and determine how to measure exposure and pharmacodynamic effects.

Methods: Safety data from multiple phase 1 trials were aggregated to assess various dosing regimens and toxicities, including those that may be associated with transgene arming. Viral delivery to tumors, peripheral viral persistence, transgene expression, and cytokine responses were also assessed and compared …

Fontan Circulation And Transplantation: Considerations For The Complex Candidate., Drishti Tolani, Sharon Chen, Edo Bedzra, Kurt R. Schumacher, Shahnawaz Amdani

Manuscripts, Articles, Book Chapters and Other Papers

The Fontan operation has transformed survival for patients with single ventricle congenital heart disease, but the long-term durability of this physiology remains limited. Fontan circulatory failure (FCF) is a progressive, heterogeneous condition associated with multiorgan dysfunction, lymphatic failure, and elevated post-transplant risk when not recognized early. With increasing survival into adulthood, heart transplantation has emerged as the definitive "fourth stage" of palliation. However, referrals for advanced therapies are often delayed, with many patients presenting in advanced stages of decline. This review synthesizes current evidence on the pathophysiology of Fontan failure, outlines consensus indications for transplant evaluation, and highlights pre-transplant strategies …

Hypertension Prevention Program And Its Effects On Blood Pressure Levels Among Young Adults In A Christian Community In Southwest Michigan, Cindel Hollancid

Doctor of Nursing Practice Projects

Background

Although the majority of patients who present are adults over the age of 40 years old; with blood pressures ranging from 140/88 – 190/110 and many times higher readings, it was intriguing and important to assess whether a direct intervention, teaching young adults ages 18 – 39 years the benefits of lifestyle choices would be beneficial as a preventative measure to implement for hypertension reduction patterns as one ages. According to Hinton et al. (2019), hypertension affects 1 in 8 adults between the ages of 20 and 40 years old and is thus common among young people; with the …

November 2025, Swosu Bulldog Wellness Committee

SWOSU BULLDOG WELLNESS

• SWOSU Wellness Fall 5k!
• November is National Diabetes Month
• The Wellness Committee has one desktop adjustable computer stand to loan out.
• Spooktacular Step Challenge Results
• November Word Search

Delayed Presentation Of A Retained Colonic Segment In A Child With Intestinal Failure On Teduglutide, Rachel C Bordelon, Sarah J Varalla, Varaha S Tammisetti, Mohamed M Shahin, Amanda Tchakarov, Essam Imseis, Allison L Speer

Faculty, Staff and Student Publications

Teduglutide is a glucagon-like peptide 2 (GLP-2) analogue that was approved by the United States Food and Drug Administration for the treatment of pediatric (>1 year) intestinal failure due to short bowel syndrome in 2019. GLP-2 analogues promote rapid intestinal adaptation, increasing the absorptive capacity of residual intestine after surgical resection to aid the achievement of enteral autonomy or reduce parenteral nutrition requirements. Despite relatively few reported side effects, there is a theoretical risk of proliferative complications. Here we present an intriguing case of a pediatric patient found to have a decade-long retained, discontinuous segment of colon from a …

Prevalence Of Obesity With Confirmed Excess Adiposity In Us Children And Adolescents, Alexandra B Palmer, Kyung Hyun Lee, Rashedeh Roshani, Elizabeth Frankel, Miryoung Lee, Mohammad Y Anwar, Heather M Highland, Kristin L Young, Mariaelisa Graff, Joseph B Mccormick, Susan P Fisher-Hoch, Joyce P Samuel, Jennifer E Below, Kari E North, Penny Gordon-Larsen

Faculty, Staff and Student Publications

No abstract provided.

Prevalent Vertebral Fracture Is Associated With Incident Cardiovascular Disease Events In Older Individuals Referred For Bone Densitometry, John T. Schousboe, Barret A. Monchka, J. Michael Davidson, Douglas Kimelman, Syed Zulqarnain Gilani, Zaid Ilyas, Siobhan Reid, Joshua R. Lewis, William D. Leslie

Research outputs 2022 to 2026

Background: It is unknown if prevalent vertebral fracture (PVFx) captured on bone density vertebral fracture assessment (VFA) images predicts incident CVD events. Methods: 11,760 individuals (mean [SD] age 75.7 [6.8] years, 94 % female) had VFA contemporaneously with bone densitometry in Manitoba, Canada, between February 2010 and December 2017, of whom 1919 (16.3 %) had ≥1 PVFx. This cohort was followed over a mean (SD) 3.8 (2.3) years for Major Adverse Cardiovascular Events (MACE, composite of hospitalization for myocardial infarction, non-hemorrhagic stroke, or all-cause mortality) and other CVD events (hospitalization for coronary artery disease, congestive heart failure, peripheral vascular disease, …

Missing The Target: A Scoping Review Of The Use Of Percent Weight Loss For Obesity Management, Diana Sherifali, Megan Racey, Donna Fitzpatrick-Lewis, Michelle Greenway, Sanjeev Sockalingam, Jun Wada, Soo Huat Teoh, Ian Patton, David Macklin, Elizabeth F C Van Rossum, Luca Busetto, Deborah Bade Horn, J D Patricia Nece, Morgan Emile Gabriel Salmon Leguede, Nicole Pearce, Carel Le Roux, Jamy Ard, Angela S Alberga, Lee Kaplan, Arya M Sharma, Sean Wharton

Faculty, Staff and Student Publications

Introduction: To co-create comprehensive targets for obesity management, we need to understand the genesis and current use of percent weight loss targets in research. The goals of our scoping review are to (1) synthesize the literature on percent weight loss targets for adults with obesity and (2) discuss the percent weight loss targets in context with their health benefits.

Methods: We searched Cochrane, MEDLINE, and EMBASE for English language, pharmaceutical, and/or behavioral intervention studies in adults with obesity where the explicit aim of the study was weight reduction defined as a percent of body weight. Reviewers screened citations and extracted …

Evidence-Informed Propositions For A Whole-Of-Program Assessment Approach, Janica Jamieson, Rachel Bacon, Andrea Bramley, Janeane Dart, Simone Gibson, Gemma Jenkins, Meredith Kennedy, Sue Kleve, Claire Palermo

Research outputs 2022 to 2026

Aim: To develop evidence-informed propositions for implementing whole-of-program assessment across dietetic education settings, in response to emerging education theory, technological advances such as generative artificial intelligence, and the need for meaningful learning and trustworthy progression decisions. Methods: A four-stage multiple methods study, grounded in pragmatism, was conducted. Initial propositions were developed through a systematic scoping review of programmatic assessment literature. Thematic analysis was used to identify patterns, which were iteratively refined into themes and then preliminary propositions. These were further refined through workshops with dietetic educators, who provided feedback based on their expertise. A repeated systematic scoping review incorporated recent …

Testing If Vitamin K1 Reduces The Progression Of Non-Severe Calcific Aortic Stenosis: Design And Rationale Of The Prevention Of Aortic Stenosis Progression Phylloquinone Ossification Reduction Trial (Passport), William A. Courtney, Jarryd Walker, Aindreas Dorai-Raj, Tom Gilbert, Adil Rajwani, Jamie W. Bellinge, Jonathan M. Hodgson, Graham S. Hillis, Carl J. Schultz

Research outputs 2022 to 2026

Aims Calcific aortic stenosis (CAS) is the most common heart valvulopathy in high-income countries. There is no known treatment for CAS other than replacement of the valve in severe, symptomatic disease. Observational studies and a small openlabel randomized trial have reported that vitamin K1 supplementation may reduce the progression rate of calcification and obstruction in CAS. Methods and results 3PASSPORT(ACTRN12622000447752) will be a prospective, randomized, double-blind, placebo-controlled clinical trial investigating if nutritional supplementation with 10 mg of vitamin K1 can reduce the rate of valvular calcification and haemodynamic progression in CAS. Patients identified to have mild or moderate CAS based …

Enhanced Recovery After Neurosurgery: A Narrative Review Comparing Clinical Outcomes, Protocols, And Challenges With Standard Postoperative Care, Tirath Patel, Hamza Yousuf Ibrahim, Rahma Naveed, Aziz Ur Rehman, Maryam Amir, Fatima Nasir, Anum Zia Khan, Nikhilesh Anand

School of Medicine Publications

Background: By integrating evidence-based pre-, intra-, and postoperative therapies, enhanced recovery after surgery (ERAS) protocols have transformed perioperative care in numerous surgical specialties. Although their use in neurosurgery aims to maximize patient recovery, minimize complications, and reduce hospital stays, the evidence remains heterogeneous, and large randomized controlled trials are scarce.

Objectives: This narrative review contrasts the clinical outcomes, advantages, and challenges of ERAS protocols with those of conventional postoperative care in neurosurgery, with a focus on cranial, spinal, pediatric, cancer, and functional procedures.

Methods: A thematic synthesis of peer-reviewed clinical evidence was conducted using PubMed, Scopus, and Google Scholar (2000-2025). …

Assessing Health Behaviors As Predictors Of Psychological Resilience And Bmi In A National And Small Military College Sample, Kylie Blodgett, Rachele Pojednic

Research outputs 2022 to 2026

Highlights: What are the main findings? First-year students at a military college engage in more vigorous physical activity and strength training compared to a representative national sample. In the national sample, higher levels of physical activity, strength training, and better sleep are associated with greater psychological resilience and healthier BMI values and these associations were not observed in the military college students. What are the implication of the main findings? Promoting physical activity and adequate sleep may enhance resilience and support healthy body weight in civilian college populations. Military training may overshadow the influence of individual health behaviors on resilience …

The Link Between Mental Health And Physical Health : A Study On Seafarers In Southeast Asia, - Dewi Balqis Binti Azfar

World Maritime University Dissertations

No abstract provided.

Risk Score Roulette: A Cautionary Tale Of Polygenic Risk Score Reliability, Diane Xue, Elizabeth E Blue, Alexis C Wood, Jerome I Rotter, Alison E Fohner

Children’s Nutrition Research Center Staff Publications

Genetic risk prediction for Alzheimer's disease (AD) has high potential impact, yet few studies have assessed the reliability of various polygenic risk score (PRS) methods at the individual level. Here, we evaluated the reliability of AD PRS estimates among 6338 participants from the Multi-Ethnic Study of Atherosclerosis. We compared four PRS models that have been previously associated with dementia risk. Despite similar population-level performance metrics, inter-model reliability of individual-level risk assessment was low, even among individuals classified in the top and bottom deciles. These findings raise serious concerns about the downstream application of PRS for guiding interventions for AD.

A Historical Cohort Comparison After Inpatient Admission For Adolescents With Anorexia Nervosa: Feasibility Of Virtual Group Therapy, Elizabeth V Franklin, Margaret Mathias, Rachel Wolfe, Duc T Nguyen, Drusilla M Rosales, Sofia Pedroza, Albert C Hergenroeder, Constance M Wiemann

Center for Medical Ethics and Health Policy Staff Publications

Objective: Access to follow-up care after a medical admission for adolescents with anorexia nervosa (AN) is important; yet access can be delayed or unavailable. This study assessed the feasibility and acceptability of a supplemental virtual 8-week outpatient group therapy program following inpatient care. A secondary aim explored the outpatient program's impact on self-reported anxiety, disordered eating, and depression symptoms, and readmission rates.

Method: A retrospective chart review study compared 68 adolescents (aged 11-18) with AN enrolled in an 8-week group therapy program (Recovery and Prevention Program [RAPP]) to 64 adolescents who were not enrolled in RAPP (historical cohort). "RAPP completers" …

Frailty And Nutritional Status Predict Postoperative Complications In Radical Cystectomy Patients, David E Hinojosa-Gonzalez, Gal Saffati, Gustavo Salgado-Garza, Cecilio Armengol-García, Bailey Slawin, Sienna Blackwell, Jennifer M Taylor, Jeremy R Slawin

Faculty, Staff and Students Publications

Introduction: Radical cystectomy (RC) is associated with significant morbidity and mortality. While frailty and nutritional status have emerged as important predictors of surgical outcomes, their impact on RC complications remains incompletely characterized. We aimed to evaluate the relationship between frailty (using the Modified Frailty Index-5 [mFI-5], nutritional status (using the Nutritional Risk Index [NRI]), and postoperative outcomes in patients undergoing RC.

Methods: We conducted a retrospective analysis of the American College of Surgeons National Surgical Quality Improvement Program database. Frailty was defined as mFI-5 score ≥2 and malnutrition as NRI ≤97.5. Hypoalbuminemia was defined as preoperative albumin ≤3.5. Outcomes included …

Single-Nucleus Mrna-Sequencing Reveals Dynamics Of Lipogenic And Thermogenic Adipocyte Populations In Murine Brown Adipose Tissue In Response To Cold Exposure, Janina Behrens, Tongtong Wang, Christoph Kilian, Anna Worthmann, Mark A Herman, Joerg Heeren, Lorenz Adlung, Ludger Scheja

Faculty, Staff and Students Publications

Objective and methods: Brown adipose tissue (BAT) comprises a heterogeneous population of adipocytes and non-adipocyte cell types. To characterize these cellular subpopulations and their adaptation to cold, we performed single-nucleus mRNA-sequencing (snRNA-seq) on interscapular BAT from mice maintained at room temperature or exposed to acute (24h) or chronic (10 days) cold (6 °C). To investigate the role of the de novo lipogenesis (DNL)-regulating transcription factor carbohydrate response element-binding protein (ChREBP), we analyzed control and brown adipocyte-specific ChREBP knockout mice.

Results: We identified different cell populations, including seven brown adipocyte subtypes with distinct metabolic profiles. One of them highly expressed ChREBP …

Selective Agonism Of Liver And Gut Fxr Prevents Cholestasis And Intestinal Atrophy In Parenterally Fed Neonatal Pigs, Yanjun Jiang, Zhengfeng Fang, Gregory Guthrie, Barbara Stoll, Shaji Chacko, Sen Lin, Bolette Hartmann, Jens J Holst, Harry Dawson, Jose J Pastor, Ignacio R Ipharraguerre, Douglas G Burrin

Faculty, Staff and Students Publications

We aimed to investigate the relative efficacy of feeding different bile acids in preventing PNALD in neonatal pigs. Newborn pigs given total parenteral nutrition (TPN) combined with minimal enteral feeding of chenodeoxycholic acid (CDCA) or increasing doses of obeticholic acid (OCA) for 19 days. Enteral OCA (5 and 15 mg/kg), but not CDCA (30 mg/kg) reduced blood cholestasis markers compared to TPN controls and increased bile acids in the gallbladder and intestine. Major bile acids in the liver and distal intestine were CDCA, HCA, HDCA, and OCA, and their relative proportions were increased by the type of bile acid (CDCA …

Factors Influencing 25-Year Survival In Pediatric Liver Transplant Recipients, Garrett Wortham, Megan Crawford, John Miggins, Chun-Sing Huang, John A Goss, Abbas Rana, Nhu Thao Galván

Faculty, Staff and Students Publications

Background: This study assesses the impact of cholestatic liver disease, including biliary atresia, on 25-year survival post-transplantation and additional factors influencing long-term outcomes after pediatric liver transplantation.

Methods: We conducted a retrospective analysis of pediatric liver transplant recipients (1987-1998) using de-identified data from the OPTN 2023 Liver Database. After exclusions for multi-organ transplants (n = 222), prior transplants (n = 2256), and deaths within 1 year (n = 526), 2429 patients remained, including 645 with cholestatic disease. Univariate and multivariate analyses identified factors associated with 25-year survival.

Results: A primary diagnosis of cholestatic disease was associated with improved 25-year survival …

From Pachymeningitis Hemorrhagica To Abusive Head Trauma: A Journey Through The Centuries, Oliver Berthold, Flora Blangis, Christopher Spencer Greeley

Faculty, Staff and Students Publications

The development of medical knowledge follows specific principles. These also apply to abusive head trauma. The seminal literature from the early 20th century is based on earlier research from Europe, which is fundamental to understand the evolution of understanding and nomenclature of abusive head trauma. A review of original medical literature on intracranial injuries in children, published in German, English, and French, was conducted using PubMed and Google Scholar for articles before 1950. The primary search focused on subdural hemorrhages and pachymeningitis in children, followed by a snowball search of references. Full texts of available manuscripts were reviewed. Primary literature …

A Rare Molecular Diagnosis In A Patient With Hepatocerebral Syndrome Contributes To The Expansion Of The Phenotypic Spectrum Of Polg2 -Related Mitochondrial Disorder, Vittoria Rossi, Dan Brooks, Hongzheng Dai, Elizabeth Mizerik, Karla Salazar, Daniel Davila-Williams, Yishay Ben-Moshe, Seema R Lalani, Sarah H Elsea, Charul Gijavanekar, Daryl A Scott, Keren Machol, Mir Reza Bekheirnia, Fernando Scaglia

Faculty, Staff and Students Publications

POLG2 encodes an accessory subunit in DNA polymerase gamma that is required for mitochondrial DNA synthesis. Monoallelic pathogenic variants in POLG2 are associated primarily with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4 (PEOA4, MIM #610131). We report a rare case of severe infantile hepatocerebral syndrome associated with biallelic variants in POLG2. The proband, a 5-week-old female infant, presented with seizures and acute liver failure. Extensive metabolic workup, including untargeted metabolomics analysis and elevated plasma growth differentiation factor 15, was suggestive of mitochondrial dysfunction. Rapid trio genome sequencing identified compound heterozygous variants, a likely pathogenic variant and …