Results 71 to 80 of about 27,677 (151)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Case‐malformed signal detection and prioritisation using EUROmediCAT data for pharmacovigilance in pregnancy

British Journal of Clinical Pharmacology, Volume 92, Issue 10, Page 3586-3597, October 2026.
Aim Many women take medications during pregnancy. However, the risk to the fetus from most medications is uncertain. Congenital anomalies are one of the leading causes of infant death and contribute to long‐term disability. Signal detection methods can be used to systematically identify possible medication–anomaly associations that require further ...
Hannah Johnson, Helen Dolk, Maria Loane, Christine Damase‐Michel, Joanne Given, Hedvig Nordeng, Jorieke E. H. Bergman, Iain Carey, Elly Den Hond, Ester Garne, Florence Rouget, Lea Bruneau, Isabelle Monier, Anke Rissmann, Mary O'Mahony, Miriam Gatt, Renée Lutke, Joanna Sichitiu, Elisa Ballardini, Alessio Coi, Clara Cavero Carbonell, David Tucker, Joan Morris   +22 more
wiley   +1 more source

Long‐term clinical trajectory of microvillus inclusion disease associated with STXBP2‐related familial hemophagocytic lymphohistiocytosis type 5: A case report

Journal of Parenteral and Enteral Nutrition, Volume 50, Issue 7, Page 1040-1044, October 2026.
Abstract Familial hemophagocytic lymphohistiocytosis type 5 is caused by biallelic pathogenic variants in STXBP2, which encodes syntaxin‐binding protein, a key regulator of vesicle trafficking. In addition to immune dysregulation, patients with familial hemophagocytic lymphohistiocytosis type 5 may present with severe, persistent diarrhea associated ...
Hiroyuki Tanaka, Mariko Sekiguchi, Yuko Kajiho, Tetsuo Ushiku, Jun Fujishiro, Motohiro Kato   +5 more
wiley   +1 more source

Iron and Other Metal Ions in Human Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Iron, copper, zinc, and calcium orchestrate cellular function through distinct yet cooperative mechanisms: redox‐active iron and copper cycle between oxidation states to act as Fenton catalysts and electron carriers in oxidative phosphorylation (OXPHOS); redox‐inert zinc serves as a structural component of zinc‐finger proteins and a catalytic cofactor ...
Xiaofeng Dai, Jitian Li
wiley   +1 more source

Prevalence of Transient and Permanent Congenital Hypothyroidism in Mazandaran Province

Journal of Mazandaran University of Medical Sciences, 2018
Background and purpose: Congenital hypothyroidism (CH) is one of the most common preventable causes of mental disabilities. The present study was conducted to determine the prevalence of permanent and transient congenital hypothyroidism in Mazandaran ...
zahra Beheshti, Rozita Rezaei, Abbas Alipour, Mehrnoosh Kosarian, sussan saatsaz   +4 more
doaj  

Patient Perceptions of a Video‐Based Educational Platform for Pulmonary Arterial Hypertension: A Qualitative Study of the SMART‐PAH Course

Pulmonary Circulation, Volume 16, Issue 4, October 2026.
ABSTRACT Pulmonary arterial hypertension (PAH) is a chronic and progressive disease with substantial physiological and psychosocial burden. Effective patient education is essential for self‐management and improved outcomes, yet access to reliable information remains limited by brief clinic visits and variable‐quality external resources.
Denise G. Sese, Purnadeo Persaud, Lauryn Durham, Kathleen Neuendorf, Logan J. Harper, Kristin B. Highland   +5 more
wiley   +1 more source

Transient hypothyroidism in a neonate following maternal exposure to vinblastine during pregnancy: a case report and review

Frontiers in Pediatrics
BackgroundVinblastine is a widely used chemotherapeutic agent for various cancers. We report a case of transient congenital hypothyroidism following maternal exposure to vinblastine during the third trimester of pregnancy and propose possible mechanisms ...
Zubair Amin, Zubair Amin, Win Thu Aung, Yvonne Peng Mei Ng, Yvonne Peng Mei Ng   +4 more
doaj   +1 more source

Comprehensive Health Predictors of Injury, Illness, and Separation From Service After Enrollment in Special Forces Assessment and Selection: A Two‐Year Longitudinal Study

Stress and Health, Volume 42, Issue 5, October 2026.
ABSTRACT Individuals in physically and cognitively demanding professions face increased risk of injury, illness, and attrition due to repeated exposure to physical and psychological stressors. Identifying modifiable factors associated with these outcomes can guide risk mitigation strategies.
Meaghan E. Beckner, Emily K. Farina, Lauren A. Thompson, Joseph J. Knapik, Stefan M. Pasiakos, James P. McClung, Harris R. Lieberman   +6 more
wiley   +1 more source

The Role of Maternal TSH Receptor Blocking Antibody in the Etiology of Congenital Hypothyroidism in Isfahan

مجله دانشکده پزشکی اصفهان, 2011
Background: Considering the role of maternal TSH receptor blocking Ab (TRAb) in the etioligy of congenital hypothyroidism, the aim of this research was to determine its role among congenital hypothyroidism (CH) in Isfahan.
Shima Salehi Abari, Mahin Hashemipour, Shaghayegh Haghjooy Javanmard, Nafiseh Esmaill, Masoud Amini, Roya Kelishadi, Akbar Hasanzadeh   +6 more
doaj  

Thyroid Profile of Neonates Born to Mothers with Hypothyroidism Detected Before and During Pregnancy

Journal of Medical Sciences and Health
Introduction: Congenital hypothyroidism is a leading preventable cause of intellectual disability. This study explores whether maternal hypothyroidism provides a greater risk for congenital hypothyroidism and compares thyroid hormone levels in ...
Rhea Suzanne John, Shreedhara Avabratha, Sweta Shanbhag   +2 more
doaj   +1 more source