Results 81 to 90 of about 25,933 (196)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1821-1831, August 2026.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Fibromuscular Dysplasia of the Coronary Arteries: A Case Report and Review of the Literature

Türk Patoloji Dergisi, 2018
Fibromuscular dysplasia is a nonatherosclerotic and non-inflammatory vascular disease with primary lesion of renal and internal carotid arteries. We present a neonatal case of fibromuscular dysplasia who died on the second day of life.
Julia KUZYK, Oksana BOIKO, Taras STETSKO
doaj   +1 more source

Therapeutic drug monitoring of antimicrobials in a paediatric setting: A retrospective single‐centre study

British Journal of Clinical Pharmacology, Volume 92, Issue 8, Page 2723-2740, August 2026.
Aims Paediatric pharmacokinetics differ significantly from adults due to age‐related physiological changes, necessitating precise dose adjustments. However, data on therapeutic drug monitoring (TDM) implementation in paediatric setting remain limited.
Gianluca Gazzaniga, Stefano Agliardi, Riccardo Giossi, Alice Schianchi, Alessandra Romandini, Thomas Virdis, Silvia Nerini Molteni, Maria Luisa De Angelis, Stefania Paccagnini, Cecilia Gechtman, Alice Proto, Marco Fossati, Silvia Oliveri, Giulia Angela Pattarino, Elena Altieri, Agnese Graziosi, Arianna Pani, Romano Danesi, Stefano Martinelli, Costantino De Giacomo, Francesco Scaglione   +20 more
wiley   +1 more source

Neonatal screening to detect critical congenital cardiac disease. A revolution in pediatrics

Acta Pediátrica de México, 2014
There is solid evidence that demonstrate the usefulness of routine oxygen saturation testing in every apparently healthy newborn after 24 hours of life and before 48 hours.
Vela Amieva Marcela, Espino Vela Jorge   +1 more
doaj   +1 more source

Fetal Brain Abnormalities Following Laser Surgery for Twin‐to‐Twin Transfusion Syndrome: Imaging Patterns and Evolution

Prenatal Diagnosis, Volume 46, Issue 9, Page 1455-1467, August 2026.
ABSTRACT Introduction Severe brain injury has been reported following fetoscopic laser ablation (FLA) for twin‐to‐twin transfusion syndrome (TTTS), but imaging patterns and temporal evolution remain poorly defined. This study aimed to characterize the progression of severe brain injury after FLA. Methods We conducted a retrospective case series of TTTS
Yada Kunpalin, Elka Miller, Ingrid Larsen, Kamini Raghuram, Catherine Windrim, Nimrah Abbasi, Greg Ryan, Tim Van Mieghem, Shiri Shinar   +8 more
wiley   +1 more source

Unilateral pulmonary vein atresia

IJTLD Open
SUMMARY OBJECTIVE This study aims to summarise the clinical characteristics of unilateral pulmonary vein atresia (UPVA) and compare the differences between Chinese cases and all published cases worldwide.
Y. Wang, Y. Tang, L. Sun, X. Zhang, Y. Liu, S. Xu, Y. Su, L. Zhang, X. Tang, H. Yang, Y. Shen   +10 more
openaire   +3 more sources

Multiple congenital anomalies in a neonatal goat kid: Atresia ani, rectovaginal fistula, renal fusion, ectopic ureter and sinus of Valsalva aneurysm

Veterinary Record Case Reports, Volume 14, Issue 3, August 2026.
Abstract A 2‐week‐old female Anglo‐Nubian goat kid was presented with rectal malformation and signs of lower urinary and gastrointestinal dysfunction. Postmortem examination revealed multiple congenital anomalies including atresia ani with a rectovaginal fistula, right‐sided extramural ectopic ureter, renal fusion with unilateral severe pallor and ...
Caro Wilson, Sarah Linn‐Peirano, Amy Brandon, Meggan Graves   +3 more
wiley   +1 more source

THE PATTERNS OF PULMONARY CIRCULATION IN PULMONARY ATRESIA [PDF]

Heart, 1964
openaire   +2 more sources

Fetoscopic Vesicostomy for Lower Urinary Tract Obstruction: A Proposal for a New Surgical Technique

Prenatal Diagnosis, Volume 46, Issue 9, Page 1468-1471, August 2026.
Marcio Lopes Miranda, Kleber Cursino de Andrade, Marcos Caetano, Patricia Traballi Carvalho Pegolo, Renato Ximenes, Rodrigo Ruano   +5 more
wiley   +1 more source

Vessel Patterns in Pulmonary Atresia [PDF]

Proceedings of the Royal Society of Medicine, 1971
K, Jefferson, S, Rees, J, Somerville
openaire   +2 more sources