Results 61 to 70 of about 5,571 (225)
Giant Bladder Diverticulum in A Female Infant Mimicking Intraperitoneal Mass
Clinical Case Reports, Volume 13, Issue 6, June 2025.ABSTRACT Urinary bladder diverticula can be either primary (congenital) or secondary (acquired) and are more commonly observed in males, sometimes in association with syndromes. The condition presents with a wide range of symptoms, while some cases may remain asymptomatic.
Jay Lodhia +4 more
wiley +1 more source
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. [PDF]
, 2017 Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these ...
Corsello G +6 more
core +1 more source
From variome to phenome : pathogenesis, diagnosis and management of ectopic mineralization disorders [PDF]
, 2015 Ectopic mineralization - inappropriate biomineralization in soft tissues - is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality.
De Vilder, eva, Vanakker, Olivier
core +2 more sources
Dermatology Online Journal, 2007 Author(s): Jr, Hiram Larangeira de Almeida; Rocha, Marcelo Passos da; Neugebauer, Samuel; Wolter, Manfred; Rocha, Nara ...
Jr, Hiram Larangeira de Almeida +4 more
openaire +4 more sources
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan
JIMD Reports, Volume 66, Issue 3, May 2025.ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation‐related disorders. Many of these defects lead to multisystemic manifestations, commonly involving the central nervous system, with symptoms ranging from ...
Nobuhiko Okamoto +2 more
wiley +1 more source
Anesthesia Management in Rare Case: Cutis Laxa Syndrome
Archives of Anesthesia and Critical Care, 2015 Cutis laxa is rare and hetrogenous group of disorders related to abnormalities in elastic tissue. It may be autosomal recessive, autosomal dominant, X linked or acquired.
Anahid Maleki +5 more
doaj
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities [PDF]
, 2018 Pyrroline-5-carboxylate reductase 1 (PYCR1) catalyzes the last step in proline synthesis. Deficiency of PYCR1, caused by a defect in PYCR1, was recently described in patients with cutis laxa, intrauterine growth retardation, developmental dysplasia of ...
Baumer, Alessandra +9 more
core
A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. [PDF]
, 2015 Inguinal hernia repair is one of the most commonly performed operations in the world, yet little is known about the genetic mechanisms that predispose individuals to develop inguinal hernias.
Ahituv, Nadav +8 more
core +2 more sources
The FASEB Journal, Volume 39, Issue 7, 15 April 2025.Molecular mechanisms in cell‐associated elastic fiber assembly. Abstract Elastogenesis is a cell surface‐located hierarchical process that requires the core components tropoelastin and fibrillins and several accessory proteins, including fibulin‐4 (FBLN4) and latent TGF‐β binding protein‐4 (LTBP4).
Hana Hakami +5 more
wiley +1 more source
Frontiers in Cardiovascular Medicine, 2021 Aortic diseases requiring surgery in childhood are distinctive and rare. Very few reports in the literature account for the occurrence of multiple thoracic aortic aneurysms in the same pediatric patient because of a genetic cause.
Paul Thomas +8 more
doaj +1 more source