Results 71 to 80 of about 24,356 (213)

Alpha-1 antitrypsin deficiency in a French General Hospital: fortuitous detection rather than efficient screening [PDF]

, 2018
Introduction: We studied the characteristics of the screening procedure for alpha-1 antitrypsin at Nevers Hospital (France), together with the performance of serum protein gel electrophoresis for the fortuitous detection of patients with deficiency ...
Bourgerette, Evelyne, de Faverges, Geoffroy, Dumont, Pierre, Kherouf, Hakim, Moquet, Olivier, N'Guyen, Tu   +5 more
core   +2 more sources

Preliminary evidence of improved liver biomarkers in adolescents with obesity and suspected metabolic dysfunction‐associated steatotic liver disease treated with semaglutide: A case series

JPGN Reports, EarlyView.
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) affects 30%–40% of youth with obesity and lacks approved pharmacologic therapies. In this single‐center retrospective case series at a tertiary care safety‐net children's hospital, we evaluated five adolescents (mean age: 17.0 years; 100% Hispanic; 60% male; mean body mass index:
Rachel Schenker, Katya Fomenko, Fotini T. Mitsinikos, Alaina P. Vidmar   +3 more
wiley   +1 more source

Alpha-1 Antitrypsin Deficiency

CHEST
Meseeha M, Sankari A, Attia M.
europepmc   +3 more sources

Hepatopulmonary syndrome as presentation of pediatric metabolic dysfunction‐associated steatohepatitis

JPGN Reports, EarlyView.
Abstract Childhood obesity is rising and leading to serious co‐morbidities, among which is metabolic dysfunction‐associated steatotic liver disease (MASLD) predisposing individuals to cirrhosis. We describe a young 11‐year‐old Hispanic male who presented with hepatopulmonary syndrome secondary to cirrhotic portal hypertension from metabolic dysfunction‐
Shruti Sakhuja, Stacey S. Beer, Kalyani R. Patel, Alexiss M. Williams, Nhu Thao Galvan, John A. Goss, Krupa R. Mysore   +6 more
wiley   +1 more source

The role of proteases, endoplasmic reticulum stress and SERPINA1 heterozygosity in lung disease and α-1 anti-trypsin deficiency. [PDF]

, 2011
The serine proteinase inhibitor α-1 anti-trypsin (AAT) provides an antiprotease protective screen throughout the body. Mutations in the AAT gene (SERPINA1) that lead to deficiency in AAT are associated with chronic obstructive pulmonary diseases.
Greene, Catherine M, Hassan, Tidi, McElvaney, Noel G, Molloy, Kevin   +3 more
core   +2 more sources

Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis

Drug Design, Development and Therapy, 2011
Jennifer A Dickens, David A LomasDepartment of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Cambridge, UKAbstract: Alpha-1-antitrypsin is the most abundant circulating protease inhibitor. It is
Dickens JA, Lomas DA
doaj  

CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans [PDF]

, 2019
Due to its ease of genetic manipulation and transparency, Caenorhabditis elegans (C. elegans) has become a preferred model system to study gene function by microscopy.
Buland, Justin R, Chou, Wendy Y. Y., Cole, F. Sessions, Dawson, Zachary, Homayouni, Airelle, Huang, Huiyan, Jia, Hanna, Kim, Hyori, Luke, Cliff J, Moreno, Marco, Pak, Stephen C, Silverman, Gary A, Thomas, Brian J, Wambach, Jennifer A, Wright, Ira E   +14 more
core   +3 more sources

A neutrophil-dependent pathway for the generation of a neutral peptide mediator: partial characterization of components and control by alpha-1-antitrypsin. [PDF]

, 1974
A biologically active neutral peptide mediator is cleaved from a plasma protein substrate by an alpha-1-antitrypsin-inhibitable serine protease apparently residing on the membrane of the human neutrophil. The peptide mediator has an approximate mol wt of
Austen, KF, Goetzl, EJ, Wintroub, BU
core  

Diagnosis Of Alpha-1-antitrypsin Deficiency By Dna Analysis Of Children With Liver Disease. [PDF]

, 2015
Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic hepatitis or ...
Bertuzzo, C S, De Tommaso, A M, Escanhoela, C A, Hessel, G, Rossi, C L, Serra, H G   +5 more
core   +3 more sources

Alpha-1 Antitrypsin Deficiency Screening Using Serum Protein Electrophoresis [PDF]

Background: Alpha-1 antitrypsin is encoded by the polymorphic SERPINA1 gene, with pathogenic variants causing alpha-1 antitrypsin deficiency.
del Castillo-Díez, Enrique, García-Gutiérrez, Almudena, García-Zafra, Laura, Menao, Sebastián, Perales-Afán, Juan José, Torralba-Cabeza, Miguel Ángel   +5 more
core   +1 more source