Results 61 to 70 of about 21,650,506 (229)

Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?

BMC Research Notes, 2019
Objective Alpha-1-antitrypsin deficiency is a relatively prevalent, but under-diagnosed, genetic disease. The objective of this study was to assess whether the systematic screening for alpha-1-antitrypsin deficiency in all patients with chronic ...
Cláudia Henrique da Costa, Arnaldo José Noronha Filho, Rosa Maria Fernambel Marques e Silva, Thaís Ferrari da Cruz, Valeria de Oliveira Monteiro, Margareth Pio, Rogério Lopes Rufino   +6 more
doaj   +1 more source

European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) position paper on screening, diagnosis and investigation of paediatric metabolic dysfunction‐associated steatotic liver disease

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) is the most common reason for elevated liver enzymes in children in Europe, affecting more than 5% of all children. Since the last iteration of this position paper, there have been substantial advances in our understanding of the disease.
Jake P. Mann, Sander Lefere, Maarten Buytaert, Anna Alisi, Cigdem Arikan, Jernej Brecelj, Rachel M. Brown, Irene Degrassi, Giulia Fiore, Emer Fitzpatrick, Sven Francque, Christian A. Hudert, Wojciech Janczyk, Lauren Johansen, Bart G. Koot, Anastasia Konidari, Eberhard Lurz, Claudia Mandato, Maria Mercadal‐Hally, Hadar Moran‐Lev, Antonella Mosca, Giusy Ranucci, Maria Rogalidou, Penelope C. Rose, Piotr Socha, Pietro Vajro, Elvira Verduci, Anita C. E. Vreugdenhil, Natalia Zavhorodnia, Aglaia Zellos, Ruth De Bruyne   +30 more
wiley   +1 more source

Alpha-1 antitrypsin phenotypes and alcoholic pancreatitis [PDF]

, 1991
Altered frequencies of alpha-1 antitrypsin phenotypes have been reported in patients with chronic pancreatitis, suggesting a possible genetic basis for individual susceptibility to this disease.
Pirola, R. C., Hall, W. D., Haber, P. S., Wilson, J. S., McGarity, B. H., Thomas, M. C.   +5 more
core   +1 more source

Protective role of the alpha-1-antitrypsin in intervertebral disc degeneration

Journal of Orthopaedic Surgery and Research, 2021
Background Intervertebral disc degeneration is a complex disease with high prevalence. It suggests that cell death, senescence, and extracellular matrix degradation are involved in the pathogenesis. Alpha-1 antitrypsin (AAT), a serine protease inhibitor,
Weikun Liu, Yanfu Wang
doaj   +1 more source

Inter‐tissue relationships of gene expression in liver, muscle and adipose tissue of children with end‐stage chronic liver disease

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives End‐stage chronic liver disease in children is associated with sarcopenia and aberrant adipose tissue mass. We investigated correlations between liver pathology‐associated gene pathways (fibrosis, inflammation and steatosis) and metabolic genes in muscle and adipose tissue.
Eirini Kyrana, Cheng Zhang, Han Jin, Siamak Salehi, Jonathan C. K. Wells, Maesha Deheragoda, Ragai R. Mitry, Anil Dhawan   +7 more
wiley   +1 more source

Safety and efficacy of alpha-1-antitrypsin augmentation therapy in the treatment of patients with alpha-1-antitrypsin deficiency [PDF]

, 2009
Irina Petrache1, Joud Hajjar1, Michael Campos21Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA; 2Department of Medicine, Division of Pulmonary, Critical Care and Sleep Medicine, Miller School of Medicine ...
Campos, Michael, Michael Campos, Irina Petrache, Joud Hajjar, Hajjar, Joud, Petrache, Irina   +5 more
core  

Alpha-1-antitrypsin replacement therapy: current status [PDF]

, 2006
PURPOSE OF REVIEW: Alpha-1-antitrypsin deficiency is a relatively common genetic disease that predisposes to the development of early-onset emphysema and, in some instances, liver disease.
Hatem Abusriwil, Abusriwil, Hatem, Robert A Stockley, Stockley, Robert   +3 more
core   +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  

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review

Orphanet Journal of Rare Diseases
Background Alpha 1 Antitrypsin Deficiency (AATD) is a largely underrecognized genetic condition characterized by low Alpha 1 Antitrypsin (AAT) serum levels, resulting from variations in SERPINA1.
Ilaria Ferrarotti, Marion Wencker, Joanna Chorostowska-Wynimko   +2 more
doaj   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source