Results 81 to 90 of about 32,701 (226)

A Highly Phenotyped Open Access Repository of Alpha-1 Antitrypsin Deficiency Pluripotent Stem Cells

Stem Cell Reports, 2020
Summary Individuals with the genetic disorder alpha-1 antitrypsin deficiency (AATD) are at risk of developing lung and liver disease. Patient induced pluripotent stem cells (iPSCs) have been found to model features of AATD pathogenesis but only a handful
J. Kaserman, K. Hurley, Mark Dodge, C. Villacorta-Martin, Marall Vedaie, J. Jean, Derek C. Liberti, Marianne F. James, Michelle I. Higgins, Nora J. Lee, G. Washko, R. San José Estépar, J. Teckman, D. Kotton, A. Wilson   +14 more
semanticscholar   +1 more source

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

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

Alpha-1 antitrypsin deficiency: outstanding questions and future directions

Orphanet Journal of Rare Diseases, 2018
BackgroundAlpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which ...
M. Torres-Durán, J. López-Campos, M. Barrecheguren, M. Miravitlles, B. Martínez-Delgado, Silvia Castillo, A. Escribano, A. Baloira, María Mercedes Navarro-García, D. Pellicer, Lucía Bañuls, María Magallón, F. Casas, F. Dasí   +13 more
semanticscholar   +1 more source

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, EarlyView.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

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  

When protein losing enteropathy persists: A case series of viral and lymphatic‐associated etiologies

JPGN Reports, EarlyView.
Abstract Protein‐losing enteropathy (PLE) is a rare condition that is characterized by loss of plasma protein in the intestines leading to hypoproteinemia with subsequent peripheral edema and possibly anasarca. The pathophysiology of PLE varies depending on the etiology and involves either intestinal mucosal injury or lymphatic system alterations ...
Natalie Jennings, Antonia C. Rovira, Pamela Castillo Rocha, Janelle Torres, Claudia M. Salgado, Miguel Reyes‐Múgica, Richard N. Arboleda, Fatima S. Hussain   +7 more
wiley   +1 more source

Oxymatrine Inhibits Epithelial‐Mesenchymal Transition to Alleviate Airway Remodeling in Chronic Obstructive Pulmonary Disease by Suppressing the TGF‐β1/Smad Pathway

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT This study explored the therapeutic efficacy of oxymatrine (OMT, C15H24N2O2) in a murine model of cigarette smoke (CS)‐induced chronic obstructive pulmonary disease (COPD) and elucidated its underlying mechanisms. A COPD model was established in mice through prolonged exposure to CS, followed by intraperitoneal administration of OMT (50 mg/kg)
Shuang Zhou, Ju‐Xiang Zhu, Jing Li
wiley   +1 more source

Protein glycosylation in lung cancer from a mass spectrometry perspective

Mass Spectrometry Reviews, EarlyView.
Abstract Lung cancer is a severe disease for which better diagnostic and therapeutic approaches are urgently needed. Increasing evidence implies that aberrant protein glycosylation plays a crucial role in the pathogenesis and progression of lung cancer.
Mirjam Balbisi, Simon Sugár, Lilla Turiák   +2 more
wiley   +1 more source

Alpha-1 antitrypsin deficiency: an update on clinical aspects of diagnosis and management

Faculty Reviews, 2020
Clinical heterogeneity has been demonstrated in alpha-1 antitrypsin deficiency (AATD), such that clinical suspicion plays an important role in its diagnosis.
Gabriela F Santos, A. Turner
semanticscholar   +1 more source