Results 41 to 50 of about 354,422 (181)

Mowat-Wilson syndrome [PDF]

open access: yes, 2007
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes ...
Livia Garavelli   +49 more
core   +2 more sources

Early and late complications of bariatric operation. [PDF]

open access: yes, 2018
Weight loss surgery is one of the fastest growing segments of the surgical discipline. As with all medical procedures, postoperative complications will occur. Acute care surgeons need to be familiar with the common problems and their management. Although
Beekley, Alec   +3 more
core   +1 more source

Mechanism of Fibrotic Anastomosis Formation in Endoscopic Ultrasound‐guided Hepaticogastrostomy Using a Plastic Stent: Insights From an Autopsy Case of Perihilar Cholangiocarcinoma

open access: yesDEN Open, Volume 7, Issue 1, April 2027.
ABSTRACT Endoscopic ultrasound‐guided hepaticogastrostomy (EUS‐HGS) is an established alternative to other biliary drainage techniques for treating malignant biliary obstruction. Although the anastomosis created by EUS‐HGS is believed to mature within several weeks, histopathological evidence supporting this assumption remains limited, particularly in ...
Kosuke Maehara   +9 more
wiley   +1 more source

Learning lessons from adverse drug reactions in children [PDF]

open access: yes, 2016
Drug toxicity is, unfortunately, a significant problem in children both in the hospital and in the community. Drug toxicity in children is different to that seen in adults.
Bodenstein   +7 more
core   +2 more sources

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1261-1266, June 2026.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge   +9 more
wiley   +1 more source

Estudio retrospectivo de pacientes intervenidos de estenosis hipertrófica de píloro en el HCUV entre 2009 y 2018 [PDF]

open access: yes, 2019
La estenosis hipertrófica del píloro (EHP) es la etiología más frecuente de cirugía en los lactantes menores de 6 meses, y la segunda en lactantes menores de 2 meses superada únicamente por las hernioplastias.
González Terrón, Álvaro
core  

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Food for thought : palatable eponyms from Pediatrics [PDF]

open access: yes, 2014
Food-related medical terms are frequently used in the field of pediatrics for the definition, recognition and diagnosis of disease. Almost 40 food-related medical eponyms used in Pediatrics have been ‘cherry picked’ and described by the authors.
Kipersztok, Lisa, Masukume, Gwinyai
core  

LL‐37: Biological Mechanisms and Emerging Therapeutic Applications in Intestinal Disease

open access: yesImmunity, Inflammation and Disease, Volume 14, Issue 5, May 2026.
ABSTRACT Human cathelicidin peptide LL‐37 is encoded by the CAMP gene and plays a key role in innate immunity. It maintains intestinal homeostasis through antibacterial, immunomodulation, and tissue repair functions. This paper reviews the multiple functions of LL‐37 in the intestinal‐immune axis and its contribution to intestinal immune homeostasis. A
Qichao Liu, Peng Xu, Cheng Zhang
wiley   +1 more source

A Difficult Recurrent Hypertrophic Pyloric Stenosis

open access: yesJournal of Neonatal Surgery, 2017
A 20-day-old girl presented with increasing projectile vomiting over a period of one week and progressive weight loss. The diagnosis of hypertrophic pyloric stenosis (HPS) was made by sonography (Length of pyloric channel: 22 mm; muscle thickness: 5 mm).
H. Louati   +7 more
semanticscholar   +1 more source

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