Results 61 to 70 of about 20,124 (268)

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

Antenatal Ultrasound Findings from a Fetus that was Ultimately Diagnosed with Pyloric Stenosis in the Mid Neonatal Period: A Case Report

Gynecology Obstetrics & Reproductive Medicine, 2013
Infantile hypertrophic pyloric stenosis is the most common surgical cause of vomiting in infants. The pyloric muscle is hypertrophied and the pyloric channel becomes narrow and elongated, causing gastric outlet obstruction.
Işık Üstüner, Emine Seda Güvendağ Güven, Evren Üstüner, Ebru Düşünceli Atman, Figen Kır Şahin   +4 more
doaj  

Recurrent hypertrophic pyloric stenosis in a 7 weeks old boy male: A case report

Journal of Pediatric Surgery Case Reports
Introduction: Recurrent pyloric stenosis poses unique diagnostic challenges, particularly in discerning authentic recurrence from post-pyloromyotomy scarring on ultrasound imaging.
Martin Schils, Haidar Houmani, Kalliroi Kotilea, Anna Poupalou, Corina Zamfir, Helena Reusens   +5 more
doaj   +1 more source

Gastric outlet obstruction in a 12 year old male

Journal of Pediatric Surgery Case Reports, 2018
Pyloric stenosis presenting beyond infancy is uncommon and poorly understood. Here, we present a case of primary acquired gastric outlet obstruction due to pyloric stenosis in a 12-year-old male child.
E.S. Bartlett, E.M. Carlisle, G.Z. Mak
doaj   +1 more source

Changing the Flow: How EUS‐Guided Drainage is Reshaping the Management of Distal Malignant Biliary Obstruction

United European Gastroenterology Journal, Volume 14, Issue 1, February 2026.
ABSTRACT Endoscopic ultrasound‐guided biliary drainage (EUS‐BD) has evolved from a rescue therapy into a viable alternative to endoscopic retrograde cholangiopancreatography (ERCP) and percutaneous drainage for distal malignant biliary obstruction (dMBO).
Jeska A. Fritzsche, Inge de Vries, Jeanin E. van Hooft, Rogier P. Voermans, Roy L. J. van Wanrooij   +4 more
wiley   +1 more source

A double-masked placebo-controlled trial of azithromycin to prevent child mortality in Burkina Faso, West Africa: Community Health with Azithromycin Trial (CHAT) study protocol. [PDF]

, 2019
BACKGROUND:Biannual, mass azithromycin distribution has previously been shown to reduce all-cause child mortality in sub-Saharan Africa. Subgroup analysis suggested that the strongest effects were in the youngest children, leading to the hypothesis that ...
Bagagnan, Cheik, Boudo, Valentin, Bountogo, Mamadou, Brogdon, Jessica M, Bärnighausen, Till, Coulibaly, Boubacar, Doan, Thuy, Lebas, Elodie, Lietman, Thomas M, Lin, Ying, Oldenburg, Catherine E, Ouattara, Mamadou, Porco, Travis C, Sié, Ali, Étude CHAT Study Group   +14 more
core  

A case report of cornelia de lange syndrome in Northern Iran; a clinical and diagnostic study [PDF]

, 2016
As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects.
Alaee, E., Bazrafshan, B., Hosseininejad, S.-M.   +2 more
core   +1 more source

Gastric Distension Index: A Novel Radiographic Marker Associated With Postoperative Gastric Stasis After Gastrectomy

Annals of Gastroenterological Surgery, Volume 10, Issue 1, Page 103-112, January 2026.
This study introduces the Hiki Index (HI), a novel radiographic metric based on upright abdominal X‐rays, to objectively assess postoperative gastric dilatation after gastrectomy. The HI demonstrated strong predictive value for gastrointestinal symptoms and the need for therapeutic intervention, offering a practical tool for early detection and ...
Hiroki Harada, Yoshiko Yamaoka, Akiko Watanabe, Kota Okuno, Shohei Fujita, Mikiko Sakuraya, Tadashi Higuchi, Koshi Kumagai, Keishi Yamashita, Naoki Hiki   +9 more
wiley   +1 more source

Isolated pylorospasm in an infant: A diagnostic and therapeutic conundrum

National Board of Examinations Journal of Medical Sciences
Persistent vomiting in a small infant can be due to delayed gastric emptying which is a significant cause of distress and morbidity. After ruling out common medical causes, evaluation for a surgical cause such as pyloric stenosis is imperative.
Dhruv Mahajan, Shubhi Gupta, Hari Krishna   +2 more
doaj   +1 more source

Consideration of pyloric stenosis as a cause of feeding dysfunction in children with cyanotic heart disease

Annals of Pediatric Cardiology, 2017
Feeding difficulty has been reported at a higher incidence in infants with cyanotic heart disease and single ventricle physiology necessitating specialized feeding strategies.
Nayan T Srivastava, John J Parent, Marcus S Schamberger   +2 more
doaj   +1 more source