Results 81 to 90 of about 84,845 (281)

A Comparative Study of Ultrasonography and CT Venography in the Diagnosis of Budd‐Chiari Syndrome

open access: yesJournal of Clinical Ultrasound, EarlyView.
Budd‐Chiari syndrome (BCS) is characterized by hepatic venous outflow obstruction from the hepatic veins to the junction of the inferior vena cava (IVC) and right atrium. Ultrasound (US) and CT venography (CTV) are used as imaging techniques for the diagnosis of BCS, and We compared the diagnostic efficacy of the two modalities. The results showed that
Tiling Jiang   +6 more
wiley   +1 more source

Berardinelli-Seip Syndrome [PDF]

open access: yes, 2011
We have reported two cases of Berardinelli-syndrome in a family which is a rare autosomal recessive disorder of the adipose tissue, originally described by Berardinelli and Seip, has been reported in approximately 120 patients of various ethnic origins ...
Dal, Sameer I, Patel, Hitesh
core   +1 more source

Spatially and genetically distinct African trypanosome virulence variants defined by host interferon-g response [PDF]

open access: yes, 2007
We describe 2 spatially distinct foci of human African trypansomiasis in eastern Uganda. The Tororo and Soroti foci of <i>Trypanosoma brucei rhodesiense</i> infection were genetically distinct as characterized by 6 microsatellite and 1 ...
Anneli Cooper   +19 more
core   +1 more source

Liver stiffness in patients with Shwachman‐Diamond syndrome

open access: yesJPGN Reports, EarlyView.
Abstract Objective This case series aims to describe whether transient elastography (TE) as a marker of liver stiffness is associated with clinically important liver disease in children and young adults with Shwachman‐Diamond Syndrome (SDS). Methods All patients ≤25 years of age with genetically confirmed SDS seen in the Pediatric Gastroenterology ...
Sabina Sabharwal   +5 more
wiley   +1 more source

Evaluation of pet animals involved in assisted interventions (AAI) as potential carriers of bacteria resistant to antimicrobials: Preliminary data [PDF]

open access: yes, 2016
open8noopenDotto, G.; Pasotto, D.; Poser, H.; Menandro, M.L.; Berlanda, M.; Falomo, M.E.; Mondin, A.; Martini, M.Dotto, Giorgia; Pasotto, Daniela; Poser, Helen; Menandro, MARIA LUISA; Berlanda, Michele; Falomo, MARIA ELENA; Mondin, Alessandra; Martini ...
Berlanda, Michele   +7 more
core   +1 more source

Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly

open access: yesPediatric Gastroenterology Hepatology & Nutrition, 2015
Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes.
Jung Ah Kim   +6 more
semanticscholar   +1 more source

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

open access: yesJPGN Reports, EarlyView.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon   +10 more
wiley   +1 more source

Long term administration of gentamicin affects hemato-biochemical parameters and liver architecture of Swiss albino mice

open access: yesJournal of Advanced Biotechnology and Experimental Therapeutics, 2018
Gentamicin is most frequently used aminoglycoside antibiotic. Despite its wide use, the effects of gentamicin have not been clearly studied in relation to alteration hemato-biochemical parameters and liver injury.
Nure Jannat   +4 more
doaj   +1 more source

High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia

open access: yesFrontiers in Pediatrics, 2020
Background: Classical Galactosemia (CG) is a rare autosomal recessive metabolic disease caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene.
Lulu Li   +7 more
doaj   +1 more source

Automated CT and MRI Liver Segmentation and Biometry Using a Generalized Convolutional Neural Network. [PDF]

open access: yes, 2019
PurposeTo assess feasibility of training a convolutional neural network (CNN) to automate liver segmentation across different imaging modalities and techniques used in clinical practice and apply this to enable automation of liver biometry.MethodsWe ...
Bahrami, Naeim   +14 more
core  

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