Results 101 to 110 of about 66,404 (281)

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

Tratamiento farmacológico del conducto arterioso permeable en recién nacidos prematuros

Revista de la Facultad de Medicina, 2019
Introducción. Por lo general, el manejo farmacológico del conducto arterioso permeable (CAP) comprende inhibidores no selectivos de la enzima ciclooxigenasa, en especial indometacina e ibuprofeno.
Hellmann Adrián Escobar, Gyhill Meneses-Gaviria, Nataly Revelo-Jurado, Julián Felipe Villa-Rosero, Jhon Edison Ijají Piamba, Alexander Burbano-Imbachí, Anuar Alonso Cedeño-Burbano   +6 more
doaj   +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

Transient left ventricular function deterioration after patent ductus arteriosus closure: A case series

SAGE Open Medical Case Reports
There is growing evidence of left ventricular decompensation following the closure of the patent ductus arteriosus, which most often happens early in the post-surgical time and improves on its own a few months after.
Mohammad Reza Sabri, Chehreh Mahdavi, Hamid Bigdelian, Ali Reza Ahmadi, Mehdi Ghaderian, Bahar Dehghan, Davood Ramezani Nezhad   +6 more
doaj   +1 more source

Anatomic, histopathologic, and echocardiographic features in a dog with an atypical pulmonary valve stenosis with a fibrous band of tissue and a patent ductus arteriosus

Acta Veterinaria Scandinavica, 2017
Background Congenital pulmonary valve stenosis and patent ductus arteriosus are common congenital heart defects in dogs. However, concurrence of atypical pulmonary valve stenosis and patent ductus arteriosus is uncommon.
Hakyoung Yoon, Jaehwan Kim, Sang-Soep Nahm, Kidong Eom   +3 more
doaj   +1 more source

Ventricular Septal Defect with Patent Ductus Arteriosus [PDF]

, 1960
Arthur A. Sasahara, Alexander S. Nadas, Abraham M. Rudolph, M. H. Wittenborg, Robert E. Gross   +4 more
openalex   +1 more source

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

Do Predictors Exist for a Successful Withdrawal of Preoperative Prostaglandin E1 from Neonates with d-Transposition of the Great Arteries and Intact Ventricular Septum? [PDF]

, 2018
Prostaglandin E1 (PGE1) is given to neonates with d-transposition of the great arteries (d-TGA) to reduce cyanosis by reopening and maintaining the patency of the ductus arteriosus.
Balmer, Christian, Bauersfeld, Urs, Cavigelli-Brunner, Anna, Dodge-Khatami, Ali, Hug, Maja, Oxenius, Angela   +5 more
core  

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

Successful endovascular coil embolization of large pseudoaneurysm of ductus arteriosus diverticulum

CVIR Endovascular, 2019
Background Pseudoaneurysm of the ductus arteriosus diverticulum, although rare in adults, may have catastrophic consequences if left untreated due to erosion and rupture of the pseudoaneurysm into adjacent thoracic structures.
David Buechner, Veronica Lippuner, Kristine DeMaio, F. Daniel Donovan, Philip R. Weber, G. Phillip Schoettle   +5 more
doaj   +1 more source