Results 141 to 150 of about 67,248 (260)

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 971-977, April 2026.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Standardizing the Clinical Approach to Cancer Therapy‐Related Cardiac Dysfunction: Applying Cardio‐Oncology Guidelines as a Practical Tool for Hematology and Oncology Providers

Cancer Medicine, Volume 15, Issue 4, April 2026.
ABSTRACT Introduction and Methods Cancer therapy–related cardiac dysfunction (CTRCD) is a well established and potentially life‐threatening complication of contemporary oncologic treatment. Although comprehensive cardio‐oncology guidelines have been developed, their integration into routine hematology and oncology practice remains inconsistent.
Abdelrahman Ali, Suparna C. Clasen, Anne Blaes, Stephen Casselli, Anita Deswal, Susan Halli Demeter, Gregory Durm, Anecita Fadol, Alessandra Ferrajoli, Michael G. Fradley, Joerg Herrmann, Borja Ibanez, Sue Koob, Bogda Koczwara, Kasey J. Leger, Jennifer E. Liu, Teresa López‐Fernández, Alexander R. Lyon, N. G. Choon Ta, John Teerlink, Eric H. Yang, Susan Dent, Daniel Lenihan   +22 more
wiley   +1 more source

Palbociclib-Induced Liver Failure [PDF]

, 2020
Atallah, Rami, Dingwall, Megan, Hamouche, Karl, Parker, Nathaniel, Truong, Quoc   +4 more
core   +2 more sources

Geleophysic Dysplasia Associated With FBN1 Mutation: Clinical Course, Valvular Heart Disease, and Response to Recombinant Human Growth Hormone Therapy

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Geleophysic dysplasia (GD) is a rare genetic condition caused by pathogenic variants in either the ADAMTSL2 or FBN1 gene. We present a patient that combined clinical features consistent with GD, including short stature, delayed bone age, progressive congenital heart disease, and a happy, round face.
Ray Thomas Katbe, Laure Boutsen, Philippe A. Lysy   +2 more
wiley   +1 more source

Spectrum of Primary Immune Regulatory Disorders in Children in a Highly Consanguineous Population: Report from a National Registry. [PDF]

J Clin Immunol
Alajmi A, Alsharidah S, Khalifa N, Elhussein A, Al-Khabaz A, Alaqeel A, Al-Herz W.   +6 more
europepmc   +1 more source

What's Your Diagnosis? Large Mediastinal Mass in a Dog

Veterinary Clinical Pathology, EarlyView.
Rosane O. Cruz, Talles M. Almeida, Iris D. S. Menezes, Ludmila R. Moroz, Suane N. Boaventura, Tiago Peixoto, Stella F. Valle, Nicole Hlavac   +7 more
wiley   +1 more source

Atypical Guillain‐Barré Syndrome Preceding Icteric Hepatitis A: A Diagnostic Challenge—A Case Report

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Guillain–Barré syndrome (GBS) is an acute immune‐mediated neuropathy typically triggered by infections. Rarely, it may precede acute hepatitis A (HAV), creating diagnostic challenges. We report a 32‐year‐old male presenting with ascending weakness and tingling in limbs without initial hepatic symptoms.
Asem Afana, Ahmed H. Sharaf, Jana Omar, Ahmad Elkhazin, Hossam Salameh   +4 more
wiley   +1 more source

Fatal Hemorrhagic Rupture of a Cystic Hepatic Hemangioma in a 27-Week Preterm Neonate. [PDF]

Cureus
El Athmani O, Saghir S, Azzakhmam M, Ayad A, Abilkassem R.   +4 more
europepmc   +1 more source

Results of chemotherapy by UKCCSG protocol in children with acute lymphoblastic leukemia: Clinical characteristics and outcome [PDF]

Background: Acute lymphoblastic leukemia (ALL) represents a clonal expansion and arrest of normal lymphoid hematopoiesis. ALL remains the most common malignancy in children.
فتحی, افشین, هیرادفر, امیر عطا ا..., پدرام, محمد   +2 more
core  

Milky Blood in a Middle‐Aged Man With Diabetes Mellitus: Familial Chylomicronemia Syndrome due to GPIHBP1 Mutation

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Diabetes mellitus is a common cause of secondary hypertriglyceridemia. However, lipemic plasma with severe hypertriglyceridemia, limited response to strict dietary measures, commonly used pharmacotherapy, and good glycemic control, should raise suspicion of a primary cause.
Mukti Nath Sankhi, Naresh Bansal, Samir Samadarshi, Santosh Kumar Singh, Rohit Vashisht   +4 more
wiley   +1 more source