Results 121 to 130 of about 172,898 (355)

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff   +8 more
wiley   +1 more source

Descripción de dos arterias renales unilaterales derechas originadas a diferentes niveles de la arteria aorta abdominal en relación a un caso

open access: yesGaceta Médica Boliviana
El reconocimiento de variantes en el origen de las arterias renales, representa un reto al conocimiento general de la anatomía humana. Generalmente, los riñones constan de, arterias renales originadas en la aorta abdominal, una a cada lado, sin embargo ...
Ivan Jesus Ayala Morejon   +1 more
doaj   +1 more source

The many faces of multivisceral transplantation [PDF]

open access: yes, 1991
The transplantation of multiple abdominal viscera, including liver-duodenum-pancreas, liver-stomach-duodenum-pancreas and liver-intestine, is being performed with increasing frequency and success.
Abu-Elmagd, K   +6 more
core  

Associations of Perirenal Fat Thickness with Renal and Systemic Calcified Atherosclerosis. [PDF]

open access: yes, 2020
BackgroundWe investigated associations between perirenal fat thickness and atherosclerotic calcification in six different vascular beds.MethodsUsing a community-based cohort (n=3,919), perirenal fat thickness was estimated from computed tomography scans.
Allison, Matthew A   +4 more
core  

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil   +8 more
wiley   +1 more source

Óbitos Decorrentes de Ruptura de Aneurisma de Aorta Abdominal no Instituto Médico Legal de Belo Horizonte, 2006–2011

open access: yesBrazilian Journal of Forensic Sciences, Medical Law and Bioethics, 2016
O aneurisma de aorta abdominal roto (AAAr) é uma condição clínica de extrema gravidade cursando com óbito de forma rápida, muitas vezes antes de ser possível o atendimento médico.
Polyanna Helena Coelho Bordoni   +3 more
doaj  

INFLUENCE OF CARDIOVASCULAR RISK FACTORS ON AORTIC WALL MOTION AFTER REPAIR OF TYPE A AORTIC DISSECTION: AN ECG-GATED CT STUDY [PDF]

open access: yes, 2012
OBJECTIVES: To evaluate aortic shape changes during cardiac cycle with dynamic computed tomographic angiography at important thoracic aorta anatomic landmarks in patients who previously underwent ascending aorta repair because of type A dissection, and ...
CROCCIA, MARIAGRAZIA
core  

Genome‐wide DNA methylation study reveals specific signatures in the affected arterial tissue of giant cell arteritis patients

open access: yesArthritis &Rheumatology, Accepted Article.
Objectives Giant cell arteritis (GCA) is a large‐vessel vasculitis, potentially causing complications such as blindness and strokes. This study aims to gain insights into the pathogenesis of GCA by identifying specific DNA methylation signatures in the arterial tissue of patients with this vasculitis.
Gonzalo Borrego‐Yaniz   +18 more
wiley   +1 more source

Derivação axilo-ilíaco para proteção de rim transplantado durante a correção de aneurisma de aorta abdominal: relato de caso

open access: yesJornal Vascular Brasileiro
Resumo Os aneurismas de aorta abdominal (AAA) são os mais frequentes, mesmo quando comparados a outros segmentos da aorta. A prevalência e a história natural de aneurismas arteriais em receptores de transplante de órgão abdominal permanecem incertas ...
Paula de Oliveira Trintinalha   +7 more
doaj   +2 more sources

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