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Can Quality of Life Tests Be Useful in Patients Affected by Alpha-1 Antitrypsin Deficiency?
J Clin Med
December 2024
Evaluation Service of the Canarian Health Service, Research Network on Chronicity, Primary Care and Health Promotion (RICAPPS), 38001 Santa Cruz de Tenerife, Spain.
Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that predisposes a person to certain diseases over their lifetime, mainly including lung disease (in the form of emphysema) and liver disease (liver cirrhosis). Quality of life questionnaires are instruments designed to quantify the deterioration of a patient's health. : This study aimed to assess whether certain quality of life tests that are routinely used in clinical practice can be useful for patients with AATD.
View Article and Find Full Text PDFAuthors reply: Alpha-1 antitrypsin deficiency associated with increased risks of skin cancer, leukemia, and hepatic cancer: A nationwide cohort study.
J Intern Med
December 2024
Department of Clinical Biochemistry, Zealand University Hospital, Køge, Denmark.
Regarding: Alpha-1 antitrypsin deficiency associated with increased risks of skin cancer, leukemia, and hepatic cancer: A nationwide cohort study.
J Intern Med
December 2024
Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Aachen, Germany.
Alpha-1 antitripsyn deficiency and augmentation therapy in pregnancy: two case reports.
Front Med (Lausanne)
December 2024
Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', AORN Ospedali dei Colli, Naples, Italy.
Alpha-1 antitrypsin deficiency (AATD) is an inherited condition characterized by reduced plasma levels of alpha-1 antitrypsin (AAT), often leading to pulmonary diseases primarily emphysema and/or chronic obstructive pulmonary disease (COPD), but also bronchiectasis, bronchial asthma, or other less common disorders. Early diagnosis enables AAT augmentation therapy, which has proven to be effective in slowing down functional decline and improving survival rates. This article presents two cases of pregnant women with rare allelic variants of AATD who received AAT augmentation therapy, exploring the limited evidence on its safety during pregnancy and the potential role of decreased serum AAT levels in pregnancy-related complications.
View Article and Find Full Text PDFReceptor-independent regulation of Gα13 by alpha-1-antitrypsin C-terminal peptides.
J Biol Chem
December 2024
Department of Biosystems Science, Institute for Life and Medical Sciences, Kyoto University, Kyoto 606-8507, Japan; Department of Mammalian and Regulatory Networks, Graduate School of Biostudies, Kyoto University, Kyoto 606-8502, Japan; Department of Homeostatic Medicine, Medical Research Laboratory, Institute of Integrated Research, Institute of Science Tokyo, Yushima Bunkyo-ku, Tokyo 113-8510, Japan. Electronic address:
Alpha-1-antitrypsin (AAT), a circulating serine protease inhibitor, is an acute inflammatory response protein with anti-inflammatory functions. The C-terminal peptides of AAT are found in various tissues and have been proposed as putative bioactive peptides with multiple functions, but its mechanism of action remains unclear. We previously reported that a mouse AAT C-terminal peptide of 35 amino acids (mAAT-C) penetrates plasma membrane and associates guanine nucleotide-binding protein subunit alpha 13 (Gα13).
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