When Probiotics Guidelines Differ: A Practical Guide For Clinicians And Researchers, Geoffrey A Preidis, Hania Szajewska, Marla Cunningham, Howard Bauchner, Daniel J Merenstein

Faculty, Staff and Students Publications

Many professional organizations publish clinical practice guidelines for the use of probiotics in gastrointestinal disorders. Generally, no two guidelines align perfectly, and some differ markedly. These discrepancies occur because clinical practice guidelines are not purely mechanical outputs of data synthesis. They are shaped by structured interpretation, value judgments, and predefined thresholds for uncertainty. These elements become particularly visible when effect sizes are small, heterogeneity is high, and outcomes vary in clinical relevance-as is the case with probiotic research. This article examines why discordance among probiotic guidelines is predictable and provides practical guidance for clinicians who must decide among conflicting recommendations …

Newborn Screening Reduces Survival Disparities In Scid After Stem Cell Transplant: A Pidtc Report, Lena E Winestone, Brent R Logan, Xuerong Liu, Olatundun Williams, Elizabeth A Dunn, Monica S Thakar, Sharon A Kidd, Talal Mousallem, Morna J Dorsey, Richard J O'Reilly, Neena Kapoor, Lisa Forbes Satter, Malika Kapadia, Soma C Jyonouchi, Sharat Chandra, Christen L Ebens, Deepakbabu Chellapandian, Sonali Chaudhury, Karin Chen, Blachy J Dávila Saldaña, Ahmad Rayes, Troy C Quigg, Shanmuganathan Chandrakasan, Jeffrey J Bednarski, Kenneth B Desantes, Pierre Teira, Alfred P Gillio, Hesham Eissa, Alan P Knutsen, Victor M Aquino, Evan B Shereck, Theodore B Moore, Emi H Caywood, Mark T Vander Lugt, Jacob Rozmus, Larisa Broglie, Lolie C Yu, Ami J Shah, Avni Y Joshi, Rebecca H Buckley, Jasmeen Dara, Joseph H Oved, Hisham Abdel Azim, Caridad A Martinez, Susan Prockop, Kathleen E Sullivan, Jack J Bleesing, Michael D Keller, Lisa M Madden, Suhag Parikh, Shalini Shenoy, Christine M Seroogy, Tamar Rubin, Jennifer Licata, Jeffrey R Andolina, Donald B Kohn, Lauri Burroughs, Jennifer W Leiding, Rebecca A Marsh, Luigi D Notarangelo, Sung-Yun Pai, Troy R Torgerson, Michael A Pulsipher, Jennifer Heimall, Geoffrey D E Cuvelier, Linda M Griffith, Jennifer M Puck, Christopher C Dvorak, Morton J Cowan, Elie Haddad

Faculty, Staff and Students Publications

Black race and Hispanic ethnicity are associated with higher mortality in severe combined immunodeficiency (SCID) following hematopoietic cell transplantation (HCT), though mechanisms remain unclear. We evaluated 796 children with SCID who received nonsibling HCT between 1982 and 2020 using data from the Primary Immune Deficiency Treatment Consortium. Overall survival for Black (aHR 2.47, 95%CI 1.64, 3.71) and Asian/Pacific Islander patients (aHR 1.82, 95%CI 1.00, 3.30) was significantly lower compared with non-Hispanic White patients, while Hispanic patients had lower event-free survival (aHR 1.83, 95%CI 1.27, 2.63) compared with non-Hispanic White patients. Even after adjusting for age and infection, Black patients with …

Using Early And Periodic Screening, Diagnostic, And Treatment (Epsdt) To Improve Access To Obesity Pharmacotherapy: A Practical Guide For Clinicians Caring For Youth With Obesity Across United States Medicaid Programs:, Jaime M. Moore, Valerie M. O'Hara, Cassie Totman, Brooke Sweeney, Sarah Hampl, Alaina P. Vidmar

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Coverage of obesity pharmacotherapy for youth varies substantially across state Medicaid programs. This variability limits access to evidence-based treatment for pediatric obesity. The Early and Periodic Screening, Diagnostic, and Treatment (EPSDT) benefit is a federally mandated Medicaid provision requiring coverage of medically necessary services for individuals under age 21, even when such services are not included in standard state Medicaid benefits. Despite its broad scope, EPSDT remains underutilized due to limited awareness and operational complexity.

METHODS: We developed a clinician-facing, practice-oriented framework to operationalize EPSDT for pediatric obesity treatment. This approach integrates (1) review of federal EPSDT policy and …

Cerebellar Atrophy In Pediatric-Onset Opsoclonus-Myoclonus-Ataxia Syndrome: A Large International Cohort Study, Rebecca Macrae, Kierstin Hederstedt, Christopher Cortina, Kumaran Deiva, Andrea Klein, Ming Lim, Thomas Rossor, Elizabeth A Sokol, Yasmin Khakoo, Nikita Malani Shukla, Timothy E Lotze, Wendy G Mitchell, Sarah Hopkins, Bo Zhang, Mark P Gorman

Faculty, Staff and Students Publications

Background and objectives: Pediatric-onset opsoclonus-myoclonus-ataxia syndrome (POOMAS) is a rare, neuroinflammatory syndrome that targets the cerebellum and can cause irreversible cerebellar structural changes, namely cerebellar atrophy. We investigated the frequency of cerebellar atrophy, as well as associated risk factors and functional outcome measures, using the largest active POOMAS registry.

Methods: This was a retrospective observational study of participants with POOMAS with disease onset from 1995 to 2025 using data from the multinational, multicenter POOMAS registry. Variables were compared between the cerebellar atrophy subgroups using the Fisher exact test or Wilcoxon rank-sum test.

Results: Of participants with follow-up imaging, cerebellar atrophy …

Measuring Family Involvement In Early Intervention Services For Children Who Are Dhh: A Scoping Review, Marie Martinez, Blair Richlin, Kristina Blaiser

Journal of Early Hearing Detection and Intervention

Background: Family involvement after a child has been identified as deaf or hard of hearing (DHH) is often recommended as “best practice” for Family Centered Early Intervention (FCEI; Szarkowski et al., 2024) and a catalyst for improved outcomes. Defining actions of a family will inform high-quality family support programs. This scoping review aims to explore and document family involvement as well as the current systems of measurement used in early intervention DHH family-centered services.

Purpose: The specific aim of this scoping review was to identify the operational definitions of family involvement and metrics used with families of children who are …

Countering Hpv Vaccine Misinformation On Social Media: Practical Strategies For Healthcare Providers, David Baldwin

Lynchburg Journal of Medical Science

Human papillomavirus (HPV) vaccination is a highly effective strategy for preventing cervical and other HPV-related cancers; however, vaccine hesitancy remains a significant barrier to optimal vaccination rates. Social media has become a major source of health information while simultaneously amplifying misinformation that influences parental attitudes toward HPV vaccination. This narrative literature review examined the relationship between social media misinformation and HPV vaccine hesitancy and identified evidence-based strategies healthcare providers can use to improve vaccine confidence.

A literature search of PubMed and Google Scholar identified 31 articles published between 2016 and 2025, of which 19 met inclusion criteria. The literature demonstrates …

Knowledge Of Parents About Thalassemia In Tabuk City: A Cross-Sectional Study, Sawsan Mohammed Alblewi, Amirah M. Alatawi, Ehab Mahmoud Hanafy, Faisal Mayudh Althobaiti, Abdulelah Hamad Al-Balawi, Faisal Mohammed Alamrani, Yazeed Mahmoud Ajwah, Omar Muslih Albalawi, Mohammed Majed Alquayr, Sultan Ibrahim Alhamdi

Makara Journal of Health Research

Background: Thalassemia is a common inherited blood disorder and remains a significant public health concern in Saudi Arabia. Parental knowledge is essential for effective prevention, screening, and early intervention. This study aimed to assess the knowledge of thalassemia among parents in Tabuk City, Saudi Arabia, and identify factors associated with knowledge levels.

Methods: A cross-sectional study was conducted among 392 parents residing in Tabuk City between March and May 2025. Data were collected using a validated Arabic questionnaire distributed online. Knowledge was assessed using 21 items covering general thalassemia knowledge, thalassemia major, carrier status, and prevention. Knowledge levels …

Reducing Potentially Preventable Emergency Department Visits (Ppvs) Through A Telehealth Intervention In Children With Asthma Within A Managed Care Organization (Mco), Renee A. Roker

Doctor of Nursing Practice Final Project Abstract

Abstract

Purpose:  The purpose of this quality improvement project was to reduce unnecessary ED utilizations among children with asthma enrolled in a Medicaid managed care health plan. The project aimed to improve access to care and enhance asthma self-management.

Background:  Asthma is one of the leading causes of Emergency Department (ED) utilization, among vulnerable populations. Members experience barriers to timely primary and specialist care, contributing to Potentially Preventable ED Visits (PPV) rates. This places managed care organizations (MCOs) at risk for financial penalties if not meeting the Texas PPV benchmark.

Methodology:  Guided by the Chronic Care Model, Lean Six Sigma …

Leveraging Administrative Health Data To Capture Rare Adverse Drug Reactions: Identifying Pediatric Patients With Trimethoprim-Sulfamethoxazole Acute Respiratory Distress Syndrome., Keith Feldman, Jenna Miller, Katherine Doane, Laura Loftis, James W. Antoon, Kevin J. Downes, Jennifer Goldman

Manuscripts, Articles, Book Chapters and Other Papers

Rare adverse drug reactions (ADRs) are underrecognized and underreported in the electronic medical record (EMR). These events often require clinical review, making systematic identification challenging. The study aim was to develop an approach to prioritize identification and validation of a rare ADR to trimethoprim-sulfamethoxazole causing acute respiratory distress syndrome (TMP-SMX ARDS) across medical institutions. We developed a clinical phenotype based on 2 local TMP-SMX ARDS cases mapped to standardized elements of a national comparative healthcare database (PHIS). We validated identification of TMP-SMX ARDS at scale across medical institutions. A set of scoring criteria was created to prioritize cases and generate …

Dupilumab Versus Placebo In Adults And Adolescents With Eosinophilic Gastritis (Degas): A Double-Blind, Placebo-Controlled, Phase 2, Multicentre, Randomised Controlled Trial, Nirmala P Gonsalves, Evan S Dellon, Kara L Kliewer, Tetsuo Shoda, Regina Yearout, Seema S Aceves, Nicoleta C Arva, John A Besse, Julie M Caldwell, Mirna Chehade, Amaziah Coleman, Margaret H Collins, Sara Anvari, Gary W Falk, Sandeep K Gupta, Girish Hiremath, David A Katzka, Paneez Khoury, John Leung, Calies Menard-Katcher, Paul Menard-Katcher, Kathryn A Peterson, Maria A Pletneva, Amanda K Rudman Spergel, Jonathan M Spergel, Tatyana Vaysman, Joshua B Wechsler, Benjamin L Wright, Guang-Yu Yang, Xue Zhang, Meijian Zhou, Ashish Bansal, Bram P Raphael, Amr Radwan, Jennifer Maloney, Antonio Martin, Yamo Deniz, Glenn T Furuta, Lisa J Martin, Marc E Rothenberg

Faculty, Staff and Students Publications

Background: Eosinophilic gastritis currently has no approved treatments and is postulated to be driven by type 2 inflammation. Dupilumab blocks type 2 cytokines IL-4 and IL-13 and has efficacy in multiple diseases characterised by type 2 inflammation, including eosinophilic oesophagitis. We aimed to assess the efficacy and safety of dupilumab in patients with eosinophilic gastritis.

Methods: DEGAS was a proof-of-concept, phase 2, multicentre, randomised controlled trial consisting of a 12-week, double-blind, placebo-controlled period, followed by a 24-week open-label extension period. Patients aged 12-70 years from 11 hospitals in the USA with histologically active eosinophilic gastritis (≥30 eosinophils per high-power field …

Future Prospects Of Pediatric Lung Transplantation, Ernestina Melicoff, David Moreno Mcneill, Christian Benden

Faculty, Staff and Students Publications

This special issue of the Journal of Heart Transplantation Open is dedicated to Pediatric Thoracic Transplantation. The authors will discuss subjects related to pediatric lung transplantation such as access to donor organs, allograft dysfunction and role of functional status in outcomes.

Indications, Techniques, And Safety Of Cryotherapy And Cryobiopsy Via Flexible Bronchoscopy In Pediatric Patients, Alex J Katz, Haley Haskett, Kubra M Bozkanat, Aoife Corcoran, Lauren M C Grant, Antoinette Wannes Daou, Sin Tran, Esra Caylan, Alfin Vicencio, Dan T Benscoter, Cherie A Torres-Silva, Sara M Zak, Gregory Burg, Lisa R Young, Pelton Phinizy, Shailendra Das, Richard Paul Boesch, Erik B Hysinger, Joseph Piccione

Faculty, Staff and Students Publications

Rationale: Cryotherapy and its diagnostic analogue, cryobiopsy, are emerging techniques via bronchoscopy with a wide range of clinical applications. While the use of cryotherapy and cryobiopsy has been established in adult pulmonary medicine, pediatric data describing the indications, procedural specifics, outcomes, and complications are limited.

Objective: To describe the indications, procedural specifics, outcomes, and complications of cryotherapy and cryobiopsy use in pediatric bronchoscopy.

Methods: A multicenter retrospective observational study was conducted at 5 pediatric hospitals in the United States. Patients aged 0 to 21 years who underwent cryotherapy or cryobiopsy via bronchoscopy between January 2017 and January 2025 were included. …

Nutrition Considerations In Youth With Type 2 Diabetes Using Glucagon-Like Peptide-1 Receptor Agonists: A Commentary, Maria E Diaz, Grace Kim, Mili Vakharia

Faculty, Staff and Students Publications

No abstract provided.

Diabetter Together: Outcomes Of A Randomized Controlled Trial Evaluating A Peer Mentor Behavioral Intervention For Young Adults With Type 1 Diabetes During The Transfer From Pediatric To Adult Care, Marisa E Hilliard, Charles G Minard, Samantha A Carreon, Wendy L Levy, Sarah K Lyons, Randi Streisand, Tricia S Tang, Siripoom V Mckay, Sridevi Devaraj, Barbara J Anderson

Faculty, Staff and Students Publications

Objective: Transition between pediatric and adult health care is complex, with high risk for loss to follow-up and suboptimal health outcomes for young adults with type 1 diabetes. This trial evaluated the efficacy of DiaBetter Together, a 12-month strengths-based behavioral intervention delivered by trained peer mentors. The intervention aimed to help young adults navigate the transfer process to promote optimal glycemic outcomes, shorten time to adult care follow-up, and improve psychosocial outcomes.

Research design and methods: Using a single-site randomized clinical trial design, we compared the 12-month intervention to usual care among n = 100 young adults aged 17-25 years …

Cost-Effectiveness Of Hes V2.0 And Galad For Hepatocellular Carcinoma Surveillance In Patients With Cirrhosis, Mert Sahinkoc, Gizem S Nemutlu, Hashem B El-Serag, Mary Linton B Peters, Ali Hajjar, Anthony E Samir, Leigh Anne Dageforde, Fasiha Kanwal, Jagpreet Chhatwal

Faculty, Staff and Students Publications

Background: Ultrasound-based surveillance for HCC is limited by suboptimal sensitivity and low adherence. Blood-based biomarkers are potential alternatives for routine HCC surveillance. We aimed to define optimal sensitivity, specificity, and cost parameters under which blood-based biomarkers could serve as cost-effective alternatives in patients with cirrhosis.

Methods: We developed a microsimulation model of the natural history of HCC in individuals with compensated cirrhosis. We compared the cost-effectiveness of biannual surveillance using 2 blood-based biomarkers-HES V2.0 and GALAD-versus ultrasound-based surveillance across a range of sensitivity, specificity, test costs, and adherence levels. Outcomes included quality-adjusted life years (QALYs), costs, and incremental cost-effectiveness ratios …

Colocalization Of Eqtls With Type 2 Diabetes And Glycemic Traits Using Whole-Genome Sequences In Diverse Populations From The Nhlbi Trans-Omics In Precision Medicine (Topmed) Program, Ningyuan Wang, Daniel A Dicorpo, Yixin Zhang, Erica Kleinbrink, Donna K Arnett, John Barnard, John Blangero, Donald W Bowden, April P Carson, Yii-Der Ida Chen, Mina K Chung, Joanne E Curran, Dawood Darbar, Ravindranath Duggirala, Patrick T Ellinor, Diane Fatkin, Myriam Fornage, Nancy Heard-Costa, Jiang He, Lifang Hou, Sharon L R Kardia, Charles Kooperberg, Ruth J F Loos, David D Mcmanus, Braxton D Mitchell, Ryan L Minster, Kari E North, Bruce M Psaty, Laura M Raffield, Susan Redline, Stephen S Rich, Dan Roden, Jerome I Rotter, Moore B Shoemaker, Jonathan D Smith, David R Van Wagoner, Francois Aguet, Kristin Ardlie, Joshua C Bis, Jennifer A Brody, Brian E Cade, Clary B Clish, Paul S De Vries, James S Floyd, Barry I Freedman, Stacey Gabriel, Robert E Gerzsten, Mark O Goodarzi, Charles Gu, Xiuqing Guo, Namrata Gupta, Susan R Heckbert, Sarah Hsu, Yi-Jen Hung, Rita R Kalyani, Tanika N Kelly, Gregory L Kinney, Changwei Li, Simin Liu, Yongmei Liu, Donald M Lloyd-Jones, Joann E Manson, Rasika A Mathias, Josep M Mercader, Alanna C Morrison, Take Naseri, Suna Onengut, Nicholette D Palmer, Patricia A Peyser, Qibin Qi, Sridharan Raghavan, Alex P Reiner, Mary R Rooney, Magdalena Sevilla-Gonzalez, Chloe Sarnowski, Joshua D Smith, Jennifer A Smith, Nicole L Spartano, Usman Tahir, Kent D Taylor, Deirdre K Tobias, Russel P Tracy, Satupa'itea Viali, Heming Wang, Alexis C Wood, Lisa R Yanek, Wei Zhao, Yinan Zheng, Josée Dupuis, Ching-Ti Liu, Robert Sladek, Jennifer Wessel, James B Meigs, Alisa K Manning, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium

Faculty, Staff and Students Publications

Large-scale multiancestry genome-wide association studies have identified hundreds of loci associated with type 2 diabetes (T2D) and glycemic traits, yet imputed genotyping arrays limit the detection of low-frequency and rare variants. Whole-genome sequencing (WGS) offers a more complete view of genetic variation, especially across diverse populations. We analyzed high-coverage (38×) WGS data from 21,913 T2D case subjects, 61,036 control subjects, and up to 50,011 individuals with no diabetes with fasting glucose, fasting insulin, and HbA1c from the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine Program. We performed single-variant association testing, conditional analysis, fine-mapping, and Bayesian colocalization to …

The Legacy, Importance, & Impact Of Lend: Evidence And Personal Stories, Emily Zalimeni, Emma Stone, Alexa Fortier, Leia Getchell, Nataliya Kloyzner, Asha Abdullahi, Elizabeth Barkoudah, Meghan Chapman, Meredith Close, Heather Engholm, Melissa Levin, Aanchal Sharma, Sarah Sparks, Patricia Rissmiller, Amy Szarkowski, Jason M. Fogler

Developmental Disabilities Network Journal

Leadership Education in Neurodevelopmental and related Disabilities (LEND) programs offer an interdisciplinary/interprofessional training opportunity for medical and allied health professionals, and individuals impacted by disability, including family members and self-advocates. Toward the aim of advocating for the enduring need of LEND and similar training programs, this article centers the voices of a subset of our alumni who have advanced the rights and improved the lives of persons with intellectual and developmental disabilities. These stories are intended to illustrate the key lessons and principles of LEND training, including attending to disability issues in education, growing skills within and between individuals working …

Improving Provider Adherence To Adolescent Depression Screening: Implementation Of A Standardized Phq-A Workflow In Pediatric Primary Care, Taylor P. H. Wamser

Student Scholarly Projects

Practice Problem: Adolescent depression is frequently under identified in pediatric primary care because of inconsistent implementation of routine depression screening despite national recommendations. This practice gap may delay diagnosis and treatment which may increase the risk of adverse mental health outcomes.

PICOT: The PICOT question that guided this project was: In pediatric primary care providers, how does the implementation of a standardized PHQ-A (Patient Health Questionnaire for Adolescents) workflow compared to informal screening practices affect provider adherence to depression screening guidelines over 12 weeks?

Evidence: Current evidence and national clinical practice guidelines support routine adolescent depression screening using validated tools …

Clinical Corner: Pearls From Local Dentists

West Michigan District Dental Society Bulletin

"Clinical Corner: Pearls from Local Dentists" is a section of the WMDDS Bulletin where local dentists share clinical wisdom for fellow practitioners. This edition discusses Caring for Patients with Cleft Lip and Palate.

What Factors Do Patients Consider When Choosing A Hand Surgeon?, Monik Debkowska, Jeremy Ruskin, Brian Lynch, Samuel Caradonna, David Komatsu, Edward Wang, Samantha Muhlrad

Stony Brook Orthopaedic and Musculoskeletal Journal

Introduction: Many patients find themselves frustrated wasting time and money when searching for the right hand specialist, only to be referred to a different one. There has been little research evaluating patient decision making when choosing a hand surgeon. Specialists would benefit from learning how to optimize their practice to reach their appropriate patient population for maximum benefit and minimum resource waste, both for the patients and physicians. We therefore conducted a survey study to evaluate which factors patients consider important when choosing a hand surgeon, and if these factors differ based on patient demographics. Our hypothesis is that patients …

Segmented Profile Analysis (Sepa): Plane-Wise Decomposition Of Within-Person Variation Via Ipsatized Singular Value Decomposition, Se-Kang Kim, Joe Grochowalski

Faculty, Staff and Students Publications

Traditional profile analyses summarize multivariate person data with overall mean levels and relative patterns, but existing methods often blur these sources of variation or reduce each individual to a single best-fitting profile. Segmented Profile Analysis (SEPA) offers a unified, ipsatized singular-value decomposition (SVD) framework that decomposes individual profiles into orthogonal level (LE) and pattern (PE) effects and, crucially, introduces plane-wise segment profiles (summaries of each person's response pattern within each variable-contrast dimension) as primary person-oriented objects. Within each low-dimensional plane, SEPA defines a projected response pattern (segment profile), domain-person cosines that index variable-by-variable alignment, and plane-fit correlations that summarize how …

Rsv Can Infect The Human Nasal Epithelium Via The Basolateral Route And Shows Distinct Subgroup Infectivity And Basal Cell Tropism, Ashley Murray, Divya Nagaraj, Emily M Schultz, Gina Aloisio, Erin Nicholson, Sarah E Blutt, Vasanthi Avadhanula, Pedro A Piedra

Faculty, Staff and Students Publications

Respiratory syncytial virus (RSV) causes millions of lower respiratory tract infections (LRTIs) in young children, older adults, and immunocompromised populations every year. RSV infection initiates in the upper respiratory tract and can progress to the lower airways, resulting in bronchiolitis, pneumonia, and even death. RSV primarily infects epithelial cells apically, but we hypothesized that basolateral exposure of the respiratory epithelium could provide an alternative mechanism of infection that contributes to LRTI development. Using a human nose organoid-air-liquid interface (HNO-ALI) model, we performed apical and basolateral inoculations with contemporaneous RSV strains (RSV/A/Ontario [RSV/A/ON] and RSV/B/Buenos Aires [RSV/B/BA]) representing the two RSV …

Identification Of Acute Kidney Injury In African Children Hospitalized With Malaria: A Multinational Individual Participant Data Meta-Analysis, Caitlin Bond, Anthony Batte, Folake Afolayan, Nicholas M Anstey, Quique Bassat, Philip A Bejon, James A Berkley, Rhys D R Evans, Stuart L Goldstein, Michael T Hawkes, Olayinka Ibrahim, Peace Imani, Chandy C John, Kevin C Kain, Claire Liepmann, Kevin Marsh, Ruth Namazzi, Margaret Nakuya, Nicole O'Brien, Lere P Oluwadare, Robert O Opoka, Jonathan Sserunkuuma, Hunter Wynkoop, Andrea L Conroy, Malaria Associated Kidney Injury And Disease Consortium In Africa (Makid-Africa)

Faculty, Staff and Students Publications

Background: Historically, acute kidney injury (AKI) has been an underappreciated complication in children with severe malaria. We conducted an individual patient data meta-analysis to model the impact of AKI and its complications on inpatient mortality in African children hospitalized with malaria.

Methods: Studies were identified using MEDLINE, EMBASE, Scopus, and PubMed with no language restrictions, as well as through outreach at scientific meetings. Investigators were contacted about participation in the study. Eligible studies included African children hospitalized with Plasmodium falciparum malaria, a serum creatinine measurement, and mortality assessed. The primary exposure was AKI, defined using Kidney Disease Improving Global Outcomes …

Using Polygenic Risk Scores To Evaluate Definitions Of Self-Reported Sleep Phenotypes Across Cohorts, Annah B Wyss, Michael Brown, Xiang Li, Brian W Spitzer, Zhijie Huang, Heming Wang, Richa Saxena, Linda Gallo, Qibin Qi, Wassim Tarraf, Robert Kaplan, Melissa Lamar, Hector M González, Charles Decarli, Myriam Fornage, Jerome I Rotter, Stephen S Rich, Kent D Taylor, Xiuqing Guo, Alexis C Wood, Peter Y Liu, Susan R Heckbert, Chloé Sarnowski, Jan Bressler, Alanna C Morrison, Bing Yu, Pamela L Lutsey, Carmen R Isasi, Susan Redline, Tamar Sofer

Faculty, Staff and Students Publications

Study objectives: Since genome-wide association studies (GWAS) of sleep phenotypes have been conducted in differing populations and definitions of sleep phenotypes vary across studies, we investigated associations between several polygenic risk scores (PRSs) and potential sleep definitions among multiethnic cohorts.

Methods: Using data from four cohorts (HCHS/SOL, ARIC, MESA, BHS, N = 16 895), we considered multiple definitions of short and long sleep, insomnia, and excessive daytime sleepiness (EDS). PRSs were developed based on summary statistics from GWAS in European ancestry individuals from the UK Biobank (UKB) and from GWAS conducted in a multiethnic population from the Million Veteran Program …

Functional Divergence Of Capicua Isoforms Explains Differential Tissue Vulnerability In Neurological Disease, Hamin Lee, Esmeralda Villavicencio Gonzalez, Elias M Rivera, Mark A Durham, Ronald Richman, Elizabeth H-Y Chu, Kailey Xia, Hu Chen, Zhandong Liu, Surabi Veeraragavan, Binoy Shivanna, Huda Y Zoghbi

Faculty, Staff and Students Publications

Many neurological diseases impact specific brain regions despite widespread expression of the disease-related protein. Spinocerebellar ataxia type 1 (SCA1) primarily affects the cerebellum, though Ataxin-1 (ATXN1) is widely expressed. We previously showed that intensified interaction between mutant ATXN1 and Capicua (CIC) drives SCA1 pathogenesis in the cerebellum, whereas ATXN1 loss augments amyloid β production in the hippocampus and cortex. CIC, however, forms a complex with ATXN1 and its paralog, Ataxin-1-like (ATXN1L), yet knockout of either yields completely different phenotypes. To determine whether this could be due to CIC having two isoforms, we generated mice bearing either the long (CIC-L) or …

Comparison Of Methods For Defatted Human Milk And Nutrient Composition: An Experimental Study, Kristin Cheng, Gina O'Toole, Stephanie Chang, Richard Chang, John Miklavcic

Food Science Faculty Articles and Research

Background

Human milk is considered the gold standard for infant nutrition; however, it is often discontinued in chylothorax and severe very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. As an alternative to complete human milk restriction, defatted human milk may be fed, though it may not fully support optimal infant growth and development. This study aimed to assess the micronutrient profile of defatted human milk.

Methods

Human milk was obtained from UCSD Human Milk Research Biorepository (San Diego, CA). Thirty samples representing 10 independent expressions in the morning, afternoon, and evening were pooled for analysis. Fat removal was performed by centrifugation at …

Epilepsy-Associated Digenic Variants Affecting An Actin-Mitochondria-Glutamate Pathway Promote Seizure Susceptibility, Shenzhao Lu, Mengqi Ma, Shabab B Hannan, Mingxi Deng, Hu Chen, Zhijian Yu, Lindsey D Goodman, Haein Kim, Yun Zhao, Sandeep Kumar Dubey, Wen-Wen Lin, Xueyang Pan, Debdeep Dutta, Vishnu Anand Cuddapah, Jill A Rosenfeld, Xi Luo, Zhandong Liu, Joshua M Shulman, Hugo J Bellen

Faculty, Staff and Students Publications

Epilepsy affects approximately 50 million people worldwide, yet more than half of individuals with a presumed genetic cause still lack a molecular diagnosis despite the identification of over 1,000 monogenic epilepsy genes. This diagnostic gap is unlikely to be resolved by improved variant detection alone, suggesting that variants affecting the same biological pathway may combine to cause disease. By studying epilepsy-associated actin regulatory genes, we identified a conserved "actin-mitochondria-glutamate (AMG) pathway". We demonstrate that reduced actin polymerization promotes DRP1-mediated mitochondrial fission, increases reactive oxygen species (ROS) levels, and enhances glutamatergic transmission, leading to seizures. The glial innate immune pathway, a …

Aberrant Stat Signaling And T Cell Dysregulation Define A Targetable Pediatric Sepsis Endotype, Robert B. Lindell, Samir U. Sayed, Jose S. Campos Duran, Sydney A. Sheetz, Apoorva Babu, Montana S. Knight, Andrea A. Mauracher, Ceire A. Hay, Peyton E. Conrey, Julie C. Fitzgerald, Nadir Yehya, Stephen T. Famularo, Teresa Arroyo, Richard Tustin, Hossein Fazelinia, Edward M. Behrens, David T. Teachey, Lisa R. Forbes Satter, Alexandra F. Freeman, Jenna Re Bergerson, Steven M. Holland, Jennifer W. Leiding, Scott L. Weiss, Mark W. Hall, Deanne M. Taylor, Rui Feng, E. John Wherry, Nuala J. Meyer, Sarah E. Henrickson

Department of Pediatrics Faculty Papers

BACKGROUNDSepsis is a leading cause of morbidity and mortality in critically ill children, yet heterogeneous immune responses complicate the development of targeted therapies and the host immune factors driving sepsis pathobiology remain unclear.METHODSWe integrated deep immune phenotyping, plasma proteomics, single-cell transcriptomics, and phosphoflow cytometry in a prospective cohort of 88 critically ill children to elucidate the mechanisms underlying immune heterogeneity.RESULTSUnsupervised clustering of plasma cytokines identified 3 immunologic subgroups, including a high-severity group ("Group C") characterized by hypercytokinemia driven by IL-6 and IFN-γ. Group C exhibited distinct alterations in immune cell frequency and activation, with a strong association between hyperinflammatory cytokine …

Strategies To Increase Attendance In Substance Use Disorder Group Treatment: Results From A Randomized Controlled Trial, Liliane Cambraia Windsor, Heather A Jones, Carla Ellis, Kennya Hooper, Andrea Rucker, Salma Musaad, Moses Okumu

Faculty, Staff and Students Publications

Background: Attendance in substance-use-disorder group-treatment is challenging with only 32% of patients attending at least one session (Substance Abuse and Mental Health Services Administration and Center for Behavioral Health Statistics and Quality. Treatment Episode Data Set (TEDS): 2023 admissions to and discharges from substance use treatment services reported by single state agencies, Bethesda, 2025). The present study tested a set of strategies to increase group session attendance in Community Wise, an innovative evidence-based group-intervention delivered in harm-reduction-community-based agencies and designed to reduce alcohol and substance use among people with substance-use-disorders living in predominantly Black and disinvested communities. We examined: (1) …

A Systematic Literature Review Of Cvid Reveals Pervasive Detrimental Noninfectious Manifestations, Robert B Lindell, Samir U Sayed, Jose S Campos Duran, Sydney A Sheetz, Apoorva Babu, Montana S Knight, Andrea A Mauracher, Ceire A Hay, Peyton E Conrey, Julie C Fitzgerald, Nadir Yehya, Stephen T Famularo, Teresa Arroyo, Richard Tustin, Hossein Fazelinia, Edward M Behrens, David T Teachey, Lisa R Forbes Satter, Alexandra F Freeman, Jenna Re Bergerson, Steven M Holland, Jennifer W Leiding, Scott L Weiss, Mark W Hall, Deanne M Taylor, Rui Feng, E John Wherry, Nuala J Meyer, Sarah E Henrickson

Faculty, Staff and Students Publications

BACKGROUND

Sepsis is a leading cause of morbidity and mortality in critically ill children, yet heterogeneous immune responses complicate the development of targeted therapies and the host immune factors driving sepsis pathobiology remain unclear.

METHODS

We integrated deep immune phenotyping, plasma proteomics, single-cell transcriptomics, and phosphoflow cytometry in a prospective cohort of 88 critically ill children to elucidate the mechanisms underlying immune heterogeneity.

RESULTS

Unsupervised clustering of plasma cytokines identified 3 immunologic subgroups, including a high-severity group (“Group C”) characterized by hypercytokinemia driven by IL-6 and IFN-γ. Group C exhibited distinct alterations in immune cell frequency and activation, with a …