Results 131 to 140 of about 795,035 (307)
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Plain abdominal radiography in acute abdominal pain; past, present, and future
International Journal of General Medicine, 2012 Sarah L Gans,1 Jaap Stoker,2 Marja A Boermeester11Department of Surgery, 2Department of Radiology, Academic Medical Center, University of Amsterdam, Amsterdam, The NetherlandsAbstract: Several studies have demonstrated that a diagnosis based solely on a ...
Gans SL, Stoker J, Boermeester MA
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m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr +5 more
wiley +1 more source
BJS (British Journal of Surgery), EarlyView., 2020 All patients operated for oesophageal cancer in Sweden from 2013 to April 2018 were identified, and 246 patients were recruited to this population‐based nationwide Swedish study. The results show that longitudinal health‐related quality of life after minimally invasive oesophagectomy was similar to that of the open surgical approach.
F. Klevebro +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi +6 more
wiley +1 more source
Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth +7 more
wiley +1 more source
Acute pancreatitis in dogs and cats: medical imaging, biopsy, treatment and prognosis [PDF]
, 2010 Diagnosing acute pancreatitis in dogs and cats is difficult. Abdominal ultrasonography provides specific information about the size, shape and homogeneity of the pancreas, but is very dependent on the experience of the operator and the quality of the ...
Daminet, Sylvie +4 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 more
wiley +1 more source
Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin +4 more
wiley +1 more source