Results 101 to 110 of about 43,523 (230)

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 496-501, February 2026.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Device Closure of Hemodynamically Significant Patent Ductus Arteriosus in Premature Infants

JACC: Advances
The patent ductus arteriosus is a very common condition in preterm infants, and a hemodynamically significant patent ductus arteriosus increases morbidity and mortality in these vulnerable patients. However, despite numerous randomized controlled trials,
Alban-Elouen Baruteau, MD, PhD, Mathilde Méot, MD, Nadir Benbrik, MD, Céline Grunenwald, MD, Naychi Lwin, MD, Juliana Patkai, MD, Jean-Christophe Rozé, MD, Damien Bonnet, MD, PhD, Sophie Malekzadeh-Milani, MD   +8 more
doaj   +1 more source

Endovascular management of early-onset post-nephrectomy renal arteriovenous fistula: A report of two cases

SAGE Open Medical Case Reports, 2015
Purpose: Here, we report two cases of early-onset post-nephrectomy renal arteriovenous fistula who were successfully managed by implantation of patent ductus arteriosus occluders. Case report: Both patients were female, aged 38 and 36 years.
Henghui Yin, Yang Zhao, Mian Wang, Shenming Wang, Guangqi Chang   +4 more
doaj   +1 more source

Mutational screening of exon 1 of smad7 in Malay patients with ventricular septal defect [PDF]

, 2015
Congenital heart disease (CHD) affects approximately 8 in every 1000 live births with ventricular septal defect (VSD) being the most common phenotype.
Hashim, Hashima
core  

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Simultaneous Repair of Iatrogenic Left Atrial and Aortic Perforations Using Ductus Arteriosus Occluders: A Case Report

Catheterization and Cardiovascular Interventions, Volume 107, Issue 2, Page 524-526, February 1, 2026.
ABSTRACT Iatrogenic perforation of the left atrium and aorta during transseptal puncture (TSP) is a rare but potentially life‐threatening complication. This report presents the case of an elderly male patient with a 20‐year history of atrial fibrillation who experienced this complication during a scheduled left atrial appendage closure procedure ...
Zhihao Wu, Shumin Ouyang, Minqi Liao, Lihua Chen, Haixian Yin, Jianping Zhou, Suxia Guo   +6 more
wiley   +1 more source

Retrospective Review of Perioperative Neonatal Echocardiography for Non‐Cardiac Surgery at a Quaternary Level Academic Hospital in Johannesburg, South Africa

Pediatric Anesthesia, EarlyView.
Bronwyn Faith Krause, Firoza Motara, Zainub Jooma   +2 more
wiley   +1 more source

Heyde Syndrome: A Literature Review

Health Science Reports, Volume 9, Issue 2, February 2026.
ABSTRACT Background and Aims Heyde syndrome, a triad of anemia from gastrointestinal (GI) bleeding, aortic valve stenosis, and acquired von Willebrand syndrome, primarily affects individuals over 65. Management requires a multidisciplinary approach, including medical therapy, endoscopic intervention, and valve replacement.
Yashika Gupta, Abdul Rehman Shahid Khan, Viraj Shetty, Yeshwini Murali Krishna, Ayisha Maqsood, Muhammad Husnain Ahmad, Masab Ali, Betsy Samuel, Ali Gohar, Abdul Waheed, Muhammad Bilal Afzal, Rehan Naseer Ahmad, Saqib Maqsood   +12 more
wiley   +1 more source

Clinical progress note: Rubella

Journal of Hospital Medicine, Volume 21, Issue 2, Page 179-182, February 2026.
Visual Abstract Abstract Rates of rubella infection and congenital rubella syndrome decreased significantly since the introduction of the rubella vaccine in 1969. Endemic rubella was declared eliminated in the United States in 2004, and since 2012, all rubella cases in the United States have been associated with infections acquired abroad. With vaccine
Adam E. Gailani, Walter Dehority, Sophie E. Katz   +2 more
wiley   +1 more source