Medicine and Health Sciences Commons^™

Bi-Allelic Loss-Of-Function Variants In Tmem63b Cause Syndromic Surfactant Dysfunction Disorder, Sock Hoai Chan, Audra N Iness, Jill A Rosenfeld, Mir Reza Bekheirnia, Lindsay C Burrage, Matthew Hoi Kin Chau, Chaerish Eint Myet Chae Htoo, Eric C Kao, Shamika Ketkar, Wan Wan Lim, Xi Luo, Rifhan Mazlan, Elizabeth Mizerik, Kein Seong Mun, Kalyani R Patel, Lorraine Potocki, Christina K Rapp, Xavier Roca, Ana Saianda, Ignacio Iglesias-Serrano, Everlyn C Siew, Donald Yuhui Sim, David R Spielberg, Sok-Kun Tae, Jing Xian Teo, Julian Warfsmann, Fan Xia, Child-Eu Registry, Saumya S Jamuar, Ee Shien Tan, Matthias Griese, Weng Khong Lim, Meow-Keong Thong, Keren Machol

Faculty, Staff and Students Publications

Transmembrane protein 63B gene (TMEM63B) encodes a mechanosensitive ion channel expressed in alveolar type II epithelial cells, where it mediates stretch-induced surfactant secretion. While heterozygous gain-of-function variants in TMEM63B have been associated with developmental and epileptic encephalopathy, no human disorder has previously been linked to bi-allelic loss-of-function variants. Here, we report five individuals from four unrelated families with childhood interstitial lung disease and bi-allelic predicted loss-of-function variants in TMEM63B. Affected individuals presented with early-onset respiratory distress, chronic hypoxemia, and diffuse parenchymal lung abnormalities on chest imaging. One individual died in infancy, two underwent bilateral lung transplantation, and two require oxygen …

Extracellular Vesicle-Mediated Transfer Of Gsdme-Nt Pores As A Mechanism Of Inflammation Propagation, Bifeng Xiao

Master's Theses

Inflammasomes are multiprotein complexes that initiate inflammatory signaling through activation of caspase-1, cytokine maturation, and cleavage of Gasdermin D (GSDMD). Cleaved GSDMD forms membrane pores that contribute to cytokine release and pyroptotic cell death. Recent evidence suggests that extracellular vesicles (EVs) may facilitate the intercellular transfer of inflammatory mediators. This study investigated whether GSDMD N-terminal fragment (GSDMD-NT) associates with EV-enriched fractions and contributes to inflammation propagation. Doxycycline-inducible HeLa cells expressing FLAG-tagged GSDMD-NT were used to generate EV-enriched fractions. Western blot analysis detected GSDMD-NT-associated material within EV fractions, while EV marker analysis supported successful enrichment of EV-associated material. Exposure of recipient …

Neonatal And Maternal Outcomes In Pregnancies With Sonographically Diagnosed Nuchal Cord: A Prospective Cohort Study, Eman Muhammad Ramadan, Samar Sarsam

Iraqi Postgraduate Medical Journal

ABSTRACT:Background: Nuchal cords, where the umbilical cord encircles the fetal neck, are a common obstetric finding, potentially impacting neonatal and maternal outcomes. Their clinical significance remains debated.Aim of the Study: To evaluate the prevalence of nuchal cords in pregnancies at Al Elwiya maternity teaching hospital and to evaluate the association between nuchal cord presence and effects on neonatal and maternal outcomes.Patients and Methods: A prospective, single-center, cohort study was conducted at Al-Elwiya Maternity Teaching Hospital from first of January to first of December 2024. It included 600 pregnant women in the study 107 had an ultrasound diagnosed with nuchal cords. …

Use Of The Bethesda System For Reporting Thyroid Cytopathology In Thyroid Nodules Incoordination To The Appropriate Surgical Intervention, Rusul Abid Kareem, Basim Rassam Ghadhban

Iraqi Postgraduate Medical Journal

Background: The thyroid nodule refers to an abnormal growth of thyroid cells. Although the vast majority of thyroid nodules are benign, a small proportion of thyroid nodules are malignant. In order to diagnose and treat malignant thyroid nodules at the earliest stage, most of them need radiological and cytological evaluation. Fine-needle aspiration (FNA) using The Bethesda System for reporting thyroid cytopathology.Aim of study: To evaluate the significance of the Bethesda classification in detecting malignant thyroid nodule and relate the appropriate surgical intervention accordingly.Methods: prospective, case control study was conducted in Baghdad teaching hospital, 2nd floor. from 1st of December 2021 …

Esophageal Stricture Post Congenital Tracheoesophageal Fistula Repair, Zaid A. Zaid, Momtaz Al-Nima

Iraqi Postgraduate Medical Journal

Background: It’s a narrowing of > 50% of the esophagus lumen or as a narrowing detected on a contrast study , or at esophagostomy in combination with symptomsTracheoesophageal fistula (TEF) is a relatively rare congenital anomaly occurring in one in 2500-3000 live births (3)Moreover, the life expectancy of the patients without proper treatment may be measured in weeksAim of study: evaluation of the demographics, surgical details, and postoperative outcomes of pediatric patients undergoing surgery for Tracheoesophageal Fistula (TEF) repair.Methods: The study was conducted at Pediatric Teaching Hospital/Medical City from December, 2022, to November , 2023. A total of 35 cases post …

The Effects Of Anti-Parkinsonian Medications On Bone Mineral Density: A Systematic Review, Mícheál Ó Breasail, Motaz B. El-Leissy, Karan P. Singh, Matthew Smith, Jakub Mesinovic, Marc Sim, Andrew Evans, David Blacker, Saman Heshmat, Neil Mahant, Christian Girgis, Peter R. Ebeling, Ayse Zengin

Research outputs 2022 to 2026

IntroductionParkinson's disease (PD) is associated with elevated fracture risk, particularly at the hip. Antiparkinsonian medications have also been associated with increased fracture risk; although their direct effects on bone mineral density (BMD) remains unclear.ObjectiveInvestigate whether antiparkinsonian medications influence BMD.MethodsA systematic search of four databases (Embase, MEDLINE, APA PsycINFO, Web of Science) was conducted up to 24/11/2025 using terms related to PD, antiparkinsonian medications and bone.ResultsA total of 748 records were identified, with 543 screened following deduplication. Fourteen studies underwent full-text review, of which seven met inclusion criteria. Three studies assessed bone mineral content or surrogate measures at non-standard sites (hand …

Cognitive Decline In Dutch-Type Hereditary And Sporadic Cerebral Amyloid Angiopathy: A 5-Year Follow-Up Study, Rosemarie Van Dort, Vera C.J. Van Stek-Smits, Sanne E. Schriemer, Reinier G.J. Van Der Zwet, Manon R. Schipper, Sabine Voigt, Ellen P. Hart, Vandhana Easwaran, Hamid R. Sohrabi, Kevin Taddei, Samantha L. Gardener, Ralph N. Martins, Steven M. Greenberg, Matthias J.P. Van Osch, Marianne A.A. Van Walderveen, Marieke J.H. Wermer, Ellis S. Van Etten

Research outputs 2022 to 2026

Introduction: Cerebral amyloid angiopathy (CAA) is associated with cognitive impairment, but its longitudinal course of cognitive decline remains unclear. We investigated domain-specific cognitive trajectories in Dutch-type hereditary (D-CAA) and sporadic CAA (sCAA) to compare patterns and rates of decline. Methods: We included 181 participants – 93 D-CAA mutation carriers (59 without, 34 with prior intracerebral hemorrhage [ICH]) and 88 with sCAA (57 without, 31 with ICH) – who underwent annual neuropsychological assessment. Longitudinal change in global cognition, memory, processing speed, and executive function was analyzed using linear mixed models. Results: Over 5 years, cognitive decline was subtle but measurable. Memory …

Shsp Dean's Newsletter, Summer 2026, Brian J. Nickerson

SHSP Dean’s Newsletter

No abstract provided.

Antibody-Oligonucleotide Conjugates: An Emerging Modality For Precision Rna Therapeutics, Chen-Hsu Yu, Summer Y Y Ha, Zhiqiang An, Kyoji Tsuchikama, Wenbo Li

The Brown Foundation: Institute of Molecular Medicine

RNA-targeting therapeutics have enormous potential to precisely target disease-causing RNAs, extending beyond the traditional limits of "druggability" for small molecules, antibodies, and protein-targeting cell therapies. However, one crucial limitation is that RNA-targeting drug modalities (such as oligonucleotides) cannot effectively reach diseased tissue or cell types. Antibody-oligonucleotide conjugates (AOCs) emerge as a promising frontier in aiding RNA therapeutics by harnessing antibodies to deliver drug modalities to target specific RNAs in desired tissues or cells. In this Review, we summarize the critical components of AOCs, key considerations for their design and manufacturing, ongoing AOCs in preclinical/clinical development, and disease indications. We discuss …

Assessing Hpv And Hpv Vaccine Awareness And Perception Amongst Undergraduate Students, Maura Hawkins

Honors Theses

Human Papillomavirus (HPV) is one of the most common sexually transmitted infections in the United States. Vaccination rates remain low among college-aged students despite an effective vaccine being available. This study investigates HPV and HPV vaccination-related knowledge, beliefs, and perceptions among undergraduate students to inform targeted intervention strategies. Participants included undergraduate students (n = 19) who attended one of three focus groups conducted in April 2025 at the University of South Alabama. Structured interview guides explored HPV knowledge, perceived risk and severity, attitudes towards vaccination, autonomy in health decision-making, trust in health information sources, and preferred educational strategies. Discussions were …

Evaluating The Accuracy Of Face2gene Phenotyping Tools In South African Children With Neurodevelopmental Disorders, Hendrike Mcdonald, Zandrè Bruwer, Michal Zieff, Emma Eastman, Brigitte Melly, Rizqa Sulaiman-Bardien, Karen Fieggen, Shahida Moosa, Charles Newton, Amina Abubakar

Institute for Human Development, East Africa

Objectives Computational phenotyping tools, like Face2Gene, are increasingly used to support genetic diagnosis by analysing facial features. These tools perform well in Global North populations but are less accurate in other groups. This study aimed to assess the performance of Face2Gene’s DeepGestalt, FeatureMatcher, and D-Score in South African children with neurodevelopmental disorders (NDDs) and unaffected controls.

Methods Facial photographs of 301 children from the NeuroDev South Africa study were analysed including 36 children with NDDs with a confirmed molecular diagnosis, 176 with NDDs without a confirmed molecular diagnosis, and 89 controls. Diagnostic accuracy of DeepGestalt and FeatureMatcher was assessed by …

Therapy With Empathy

DePaul Magazine

DePaul's Speech Language Pathology and Occupational Therapy graduate programs, newly aligned in the Department of Rehabilitative Sciences and Professions at the College of Science and Health, employ a community assets-based approach to serving diverse populations and individuals' needs across the lifespan.

Fluoroquinolone Use And Risk Of Pneumothorax In Adults Hospitalized With Community Acquired Pneumonia: A Retrospective Cohort Study, Steven Yi B. S., Saurav Sumughan B.S., Jessica Cobb M. D., Erika J. Yoo

Department of Medicine Faculty Papers

Objectives: The objective of this study is to examine the relationship between fluoroquinolone exposure and pneumothorax risk in patients hospitalized with pneumonia.

Methods: This retrospective cohort study used the TriNetX US Collaborative Network. We defined two mutually exclusive cohorts of hospitalized adults based on exposure to antibiotic classes commonly used to treat community acquired pneumonia: fluoroquinolone (ciprofloxacin, moxifloxacin, levofloxacin, and ofloxacin) versus nonfluoroquinolone (amoxicillin, azithromycin, ceftriaxone, and doxycycline). Patients with connective tissue disorders were excluded. The primary outcome was the occurrence of pneumothorax within 60 days. We used Cox proportional hazards regression to estimate hazard ratios (HRs) adjusted for demographics, …

A Quality Improvement Approach To Reducing Chronic Obstructive Pulmonary Disease Readmissions, Florwisse Rubio

All Doctor of Nursing Practice (DNP) Scholarly Projects

Problem:

The problem identified at the project site is that care transitions for patients with COPD lack standardized discharge processes, leading to inconsistent education, limited follow-up, and poor coordination of care.

Aim of the Project:

The primary aim was to improve patient outcomes by reducing the 19.6% 30-day readmissions among older adults diagnosed with COPD at the selected project site by implementing a standardized discharge intervention over 12 weeks, measuring progress, and ensuring appropriate workflow. The initiative of this project sought to foster a sense of proper continuity of care through timely follow-up, interprofessional communication among patients and providers, and …

Effectiveness Of Vocational Therapy On Psychotic Symptoms Of Patients With Schizophrenia, Iman Ahmed Jumaa, Naamah Shlaibah Humaidi

Iraqi Postgraduate Medical Journal

AbstractBackground: Schizophrenia is a severe mental disorder often resulting in significant functional impairment. While antipsychotic medications are the cornerstone of treatment, complementary therapies are needed to address residual symptoms and improve functional outcomes.Aims and Objectives: This study aimed to evaluate the effect of adding a structured vocational therapy program to standard drug therapy in patients with schizophrenia.Materials and Methods: A prospective was conducted with 100 inpatients at Al-Rashad Hospital. Participants were divided into two cohorts: an intervention cohort (n=50) that received vocational therapy plus drug therapy and a control cohort (n=50) that received drug therapy alone. The Positive and Negative …

The Role Of Apparent Diffusion Coefficient Value Measurement In The Differentiation Of Ischemic Stroke From Multiple Sclerosis In The Brain, Jenan Mohammed Khalid, Amer Murad Gebur

Iraqi Postgraduate Medical Journal

Differentiating acute ischemic stroke from active multiple sclerosis (MS) plaques using conventional MRI can be challenging due to overlapping radiological features. The Apparent Diffusion Coefficient (ADC) provides a quantitative measure of water diffusion, potentially offering a solution to this diagnostic dilemma. This study aims to evaluate the role of ADC value measurements in distinguishing between acute ischemic stroke and acute demyelinating MS lesions. This cross-sectional study was conducted at a tertiary care center in Iraq from November 2024 to July 2025. All participants underwent a standardized brain MRI protocol on a 1.5-T scanner. ADC values were measured by manually placing …

Congenital Heart Disease In Infants Of Diabetic Mothers (Pediatrics Hospital Based Study), Esraa Ali Mathboob Mahdi, Basil M. Hanudi

Iraqi Postgraduate Medical Journal

Background: Infants born to diabetic mothers are at elevated risk for neonatal complications, including metabolic, hematologic, respiratory, cardiac, and neurological disorders. Notably, insulin-dependent diabetes increases the likelihood of congenital heart diseases (CHDs). Aim: This study aimed to determine the incidence and associated factors of cardiac complications among neonates born to diabetic mothers and to identify the prevalent patterns of congenital heart defects in this population. Methods: An analytical cross-sectional study was conducted over a 10-month period (July 1, 2020 to April 30, 2021) at the Neonatal Care Unit of Child’s Central Teaching Hospital. The study included 100 neonates admitted within …

Association Between Cesarean Scar Niche Characteristics And Menstrual Irregularities: A Cross-Sectional Study, Ridab Ali Saeed, Ahmed R. Shaker

Iraqi Postgraduate Medical Journal

ABSTRACT:Background: Cesarean section is a prevalent obstetric procedure with potential complications, including the formation of uterine niches or isthmoceles. These defects are associated with irregular menstrual cycles and adverse gynecological outcomes.Aim of the Study: To evaluate the association between cesarean scar niches and menstrual irregularities, and examine whether niche size and myometerial thickness are linked to menstrual irregularities.Patients and Methods: This cross-sectional observational study included 200 women with a history of cesarean section. Participants were divided into regular and irregular menstrual cycle groups and further categorized by the presence or absence of uterine niches. Clinical and demographic data were collected, …

Evaluating The Usefulness Of 24-Hour Video Eeg Monitoring In Dr. Sa’Ad Alwitry’S Hospital, Baghdad, Iraq, Ebtehal Dhiyaa, Akram Mohammad Al-Mahdawi, Muataz Fairooz Abd

Iraqi Postgraduate Medical Journal

Background: Video electroencephalography (VEEG) monitoring, which combines EEG with synchronized video recording, is a valuable but resource-intensive tool for evaluating seizure disorders. While its role in diagnosis and classification is established, its specific impact on altering provisional diagnoses and guiding treatment remains underexplored.Objective: To assess the diagnostic utility of 24-hour inpatient VEEG monitoring in confirming or modifying provisional diagnoses and reducing misdiagnosis in patients with paroxysmal events.Methods: A retrospective analysis was conducted on 192 patients who underwent VEEG monitoring at Dr. Saad Alwitry Hospital between January and December 2018. Patient records were reviewed to assess the impact of VEEG on …

Clinical And Laboratory Profile Of Pediatric Covid-19 Cases: A Retrospective Cross-Sectional Study At The Children Welfare Teaching Hospital, Baghdad, Oras Abd Al-Rahman Mankhi, Hassanien Habeeb Ghali

Iraqi Postgraduate Medical Journal

Background: Coronavirus disease 2019 (COVID-19) continues to pose a global health challenge. Although children are generally less severely affected than adults, severe outcomes and mortality continue to be reported, particularly in low-resource settings. paediatric cases may present with a wide spectrum of clinical manifestations. Understanding the clinical and laboratory characteristics of pediatric COVID-19 in Iraq is essential for improving diagnosis, management, and outcomes.Objective: To describe the demographic, clinical, laboratory and radiological characteristics of pediatric COVID-19 patients admitted to the Children Welfare Teaching Hospital (CWTH), Baghdad, and to identify factors associated with disease severity.Methods: A retrospective cross-sectional study was conducted on …

Immunohistochemical Expression Of Estrogen Receptor In Papillary Thyroid Carcinoma With Lymph Node Metastasis, Furqan J. Albderi, Kaswer M. Altoriahi

Iraqi Postgraduate Medical Journal

Background: Papillary thyroid carcinoma (PTC) is the most common well-differentiated thyroid malignancy. The female predominance of PTC suggests a potential role for estrogen signaling, mediated through estrogen receptors (ER), in thyroid carcinogenesis and progression.Objective: This study aimed to evaluate estrogen receptor protein expression in papillary thyroid carcinoma with lymph node metastasis and to analyze its association with clinicopathological parameters.Methods: A retrospective study was conducted on 50 formalin-fixed, paraffin-embedded thyroid and corresponding lymph node tissue specimens from Iraqi patients with PTC and lymph node metastasis. ER expression was assessed by immunohistochemistry. Associations between ER expression and clinicopathological variables were analyzed using …

Evaluation Of Peripheral Nerves In Patients With Acromegaly By Electrodiagnostic Study, Taiseer Saad Musa, Farqad Bader Hamdan, Abbas Mahdi Rahmah

Iraqi Postgraduate Medical Journal

Background: Acromegaly is a rare multisystem disorder caused by excess growth hormone (GH) and insulin-like growth factor 1 (IGF-1), typically from a pituitary somatotroph adenoma. Neurological complications, particularly peripheral neuropathies, are common but under-investigated.Objectives: To evaluate peripheral nerve involvement in Iraqi patients with acromegaly and assess the impact of IGF-1 levels, disease duration, adenoma size, and other clinical variables on nerve function.Methods: A cross-sectional study included 41 acromegalic patients (≥25 years) who underwent detailed neurophysiological testing. Patients were classified as metabolically controlled or uncontrolled based on IGF-1 levels.Results: IGF-1 and GH levels were significantly lower in the controlled group (p<0.001), while other clinical variables showed no significant differences. Neurophysiological findings revealed significantly reduced sensory and motor amplitudes, prolonged latencies, and slower conduction velocities in the uncontrolled group. IGF-1 levels correlated positively with sensory and motor latencies and negatively with conduction velocities and CMAP amplitudes. Larger adenoma size and presence of diabetes were also associated with worse nerve parameters. Deep X-ray therapy and surgical excision showed beneficial associations with median nerve conduction velocity.Conclusion: Peripheral nerve dysfunction, including carpal tunnel syndrome and polyneuropathy, is more severe in metabolically uncontrolled acromegaly. Macroadenomas and poor biochemical control are linked with worse neurophysiological outcomes.

Family Medicine In Iraq: Bridging The Gap Between Training And Practice For Health System Reform, Eman A. Al-Kaseer

Iraqi Postgraduate Medical Journal

No abstract provided.

Incidence And Outcomes Of Treatment-Associated Hepatotoxicity During Pediatric Acute Lymphoblastic Leukemia Induction Therapy: A Reducing Ethnic Disparities In Acute Leukemia (Redial) Consortium Report, Ashley N Chavana, Emily J Mason, John P Woodhouse, Olga A Taylor, Monica M Gramatges, Joanna S Yi, Sandi Pruitt, M Brooke Bernhardt, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Marley Roberts, Rodrigo Erana, Juan Carlos Bernini, Hong Zhu, Philip J Lupo, Karen R Rabin, Michael E Scheurer, Steven D Mittelman, Van Huynh, Etan Orgel, Austin L Brown

Faculty, Staff and Students Publications

No abstract provided.

Nuclear-Specific Reductive Carboxylation Of Alpha-Ketoglutarate Fuels Histone Acetylation To Induce Chromatin Accessibility And Gene Activation, Abhisha Sawant Dessai, Nadya A Elhalawany, Tao Dai, Justine J Jacobi, Christian Prechtl, Alphonse N Dimeck, Sierra R Morton, Mark D Long, Prashant K Singh, Nagireddy Putluri, Mariana Lopes, Song Liu, Dominic J Smiraglia, Katerina V Gurova, Peder J Lund, Leah A Gates, Sung Yun Jung, Subhamoy Dasgupta

Faculty, Staff and Students Publications

Mitochondria remain at the core of cell metabolism, whereas the nucleus integrates cellular and environmental signals to activate genes. However, the mechanisms that directly link cellular metabolism to gene regulation are not well understood. Here we show, a metabolic pathway in the nucleus controls acetylation of histones by nuclear localization of mitochondrial enzymes aconitase (ACO2) and isocitrate dehydrogenase (IDH2). Metabolic tracing studies show that IDH2 and ACO2 catalyze reductive carboxylation of α-ketoglutarate to rapidly synthesize citrate to increase nuclear acetyl-CoA pool. Genetic and proteomic analyses reveal nuclear IDH2 and ACO2 form a complex with KAT2A/GCN5 for acetylation of histones to …

Genetics Of Cerebrotendinous Xanthomatosis, Jennifer Hanson, Penelope E Bonnen

Faculty, Staff and Students Publications

Cerebrotendinous xanthomatosis (CTX) is rare, autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in CYP27A1, which encodes sterile 27 hydroxylase, a key enzyme in bile acid biosynthesis. Enzyme deficiency results in reduced cholic and chenodeoxycholic acid synthesis with accumulation of cholestanol, bile acid intermediates, and bile alcohols, producing a progressive multisystem disorder characterized by chronic diarrhea, juvenile-onset cataracts, tendons xanthomas, and neurological dysfunction. Although CTX typically begins in childhood, diagnosis is frequently delayed until adulthood, limiting the benefit of effective disease modifying therapy with chenodeoxycholic acid. Since the identification of CYP27A1, more than 200 pathogenic variants have …

Evidence-Based Classification Of Genes Implicated In Skeletal Disorders Using The Clingen Curation Framework, Ryan F Webb, Hannah Mccurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina Distefano, Lorenzo D Botto, Lindsay C Burrage, Valérie Cormier-Daire, Juan Dong, Nadja Ehmke, Deborah Krakow, Shahida Moosa, Geert Mortier, Sandesh Nagamani, Loren Pena, Pedro A Sanchez-Lara, Andrea Superti-Furga, Sheila Unger, Danita Velasco, Matthew L Warman, Kerry Brown, Deepika D'Cunha Burkardt, Carlos R Ferreira

Faculty, Staff and Students Publications

More than 770 genetic skeletal disorders have been described, most with disease-causing variants reported in 1 of over 550 different genes. The ClinGen Skeletal Disorders Gene Curation Expert Panel was established to determine the strength of the evidence that supports specific gene-disease relationships (GDRs). Such information can assist clinical testing laboratories in choosing genes that should be included on diagnostic panels. Nine genes accounting for the most frequently encountered skeletal dysplasias (COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, TRPV4, COMP, ALPL, and SOX9) associated in the medical literature with 26 different skeletal disorders were reviewed using a semi-quantitative scoring framework. This framework …

Jak Inhibition In Pnpt1-Related Mitochondrial Interferonopathy: A Case Report And Review Of Mitochondrial-Immune Crosstalk, Dan Ross Brooks, Hyun Yong Koh, Taylor Martin Kerrins, Steven Lang, Emily Bland, Rui Yang, Sarah Kogan Nicholas, Stephanie Jean Sikkink, Stephen Kralik, Christine Eng, Chaya Nautiyal Murali, Seema Lalani, Pilar Lenglet Magoulas, Lisa Emrick, Kristen Sydney Fisher, Fernando Scaglia

Faculty, Staff and Students Publications

Biallelic pathogenic variants in PNPT1 cause combined oxidative phosphorylation deficiency 13 (COXPD13) (MIM #614932), linking mitochondrial dysfunction to type I interferon (IFN) activation through cytosolic leakage of mitochondrial double‐stranded RNA (mt‐dsRNA). This mechanism connects mitochondrial disease to interferonopathies such as Aicardi–Goutières syndrome (AGS). We describe a 7‐month‐old female infant with compound heterozygous PNPT1 variants presenting with severe hypotonia, feeding difficulties necessitating gastrostomy, dystonia, and elevated serum lactate. Brain magnetic resonance imaging (MRI) demonstrated marked cerebellar, brainstem, and basal ganglia atrophy, with a lactate peak on MR spectroscopy (consistent with an inverted doublet). Serum immune profiling revealed a mild but elevated …

Epinephrine Underuse For Anaphylaxis In Infants And Toddlers: A Practical Review For Pediatricians, Stephanie Leeds, Aikaterini Anagnostou, Michael Pistiner, Jay Lieberman, Nicole B Ramsey, Rachael Griffiths, Julie Wang

Faculty, Staff and Students Publications

A recent consensus report defined anaphylaxis as a serious allergic reaction that may involve the skin/mucosa, respiratory, cardiovascular, and/or gastrointestinal systems that can progress rapidly and may cause death. Epinephrine treatment is recommended in suspected anaphylaxis cases; however, numerous barriers exist to consistent, widespread epinephrine use, including difficulty identifying anaphylaxis signs and symptoms; challenges recognizing when to use epinephrine; low propensity of prescribing and filling prescriptions; low epinephrine carrying rates; knowledge gaps in epinephrine administration techniques; fears of contacting emergency medical services; use of antihistamines, inhaled bronchodilators, and other medications as first-line agents over epinephrine; and limited epinephrine device availability …

Age-Appropriate Low Dosing For Food Protein-Induced Enterocolitis Syndrome Oral Food Challenges: Proposing A Standardized Approach, Sara Anvari, Mary Grace Baker, Theresa Bingemann, J Andrew Bird, Terri Brown-Whitehorn, Antonella Cianferoni, Raquel Durban, Malika Gupta, Erin Hosein, George Konstantinou, Stephanie Leonard, Melanie A Ruffner, Allison Schaible, Amy M Scurlock, Pooja Varshney, Antonella Muraro, Alessandro Fiocchi, Alexandra F Santos, Stefania Arasi, Marta Vazquez-Ortiz, Hideaki Morita, Ichiro Nomura, Julia E M Upton, Michael Levin, Eric Lee, Cesar Galvan, Rodrigo Hoyos-Bachiloglu, Pantipa Chatchatee, Kirsten Beyer, George Du Toit, Purificacion Gonzalez-Delgado, Lydia Su Yin Wong, Marion Groetch, Anna Nowak-Wegrzyn

Faculty, Staff and Students Publications

Current oral food challenge (OFC) protocols for food protein-induced enterocolitis syndrome (FPIES) exhibit significant variability, creating potential for inconsistent diagnostic outcomes and severe reactions. Based on the published evidence and our clinical experience, we propose a practical, standardized OFC dosing protocol that emphasizes patient safety, goals based on age-appropriate servings (AASs), and clinical monitoring. A recent systematic review reported that most patients with persistent FPIES who underwent OFCs reacted to just 25% of an AAS, with low rates of severe reactions. Thus, we recommend that most patients undergoing a medically supervised FPIES OFC receive a cumulative dose of 25% AAS, …