Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes.

Συγγραφείς: Ferrarotti I; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, San Matteo, Pavia, Italy.; Department of Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, Pavia, Italy.; Member of ERN-LUNG., Piloni D; Department of Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, Pavia, Italy., Filosa A; Department of Public Health, Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia, Italy., Ottaviani S; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, San Matteo, Pavia, Italy., Barzon V; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, San Matteo, Pavia, Italy.; Department of Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, Pavia, Italy., Balderacchi AM; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, San Matteo, Pavia, Italy., Corda L; Member of ERN-LUNG.; Spedali Civili di Brescia, Prima Divisione Medicina, Brescia, Italy., Seebacher C; Pneumologia, Azienda Sanitaria di Bolzano, Bolzano, Italy., Magni S; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, San Matteo, Pavia, Italy., Mariani F; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, San Matteo, Pavia, Italy., Baderna P; Ospedale Civile di Saluzzo, Fisiopatologia Respiratoria, Saluzzo, Italy., Confalonieri P; Member of ERN-LUNG.; Department of Pulmonology, University Hospital of Cattinara, Trieste, Italy., Iannacci L; Sondalo Hospital, ASST Valtellina e Alto Lario, Sondrio, Italy., Mancinelli S; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, San Matteo, Pavia, Italy., Putignano P; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, San Matteo, Pavia, Italy., Albera C; Member of ERN-LUNG.; Department of Medical Sciences, Pulmonology Unit, University of Torino, Torino, Italy., Stella GM; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, San Matteo, Pavia, Italy.; Department of Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, Pavia, Italy.; Member of ERN-LUNG., Monti MC; Department of Public Health, Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia, Italy., Corsico AG; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, San Matteo, Pavia, Italy.; Department of Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, Pavia, Italy.; Member of ERN-LUNG.

Πηγή: Pulmonology [Pulmonology] 2025 Dec 31; Vol. 31 (1), pp. 2429911. Date of Electronic Publication: 2024 Dec 03.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101723786 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2531-0437 (Electronic) Linking ISSN: 25310429 NLM ISO Abbreviation: Pulmonology Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/epidemiology , alpha 1-Antitrypsin Deficiency*/diagnosis , Genotype* , alpha 1-Antitrypsin*/genetics, Humans ; Male ; Female ; Middle Aged ; Adult ; Registries ; Aged ; Italy/epidemiology ; Severity of Illness Index

Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations.

Συγγραφείς: Martín-González E; Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), 38200 La Laguna, Tenerife, Spain., Hernández-Pérez JM; Department of Respiratory Medicine, Hospital Universitario de N.S de Candelaria, 38010 Santa Cruz de Tenerife, Spain.; Respiratory Medicine, Hospital Universitario de La Palma, 38713 Breña Alta, Santa Cruz de Tenerife, Spain., Pérez JAP; Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), 38200 La Laguna, Tenerife, Spain.; Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna (ULL), La Laguna, Tenerife, Spain., Pérez-García J; Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), 38200 La Laguna, Tenerife, Spain., Herrera-Luis E; Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), 38200 La Laguna, Tenerife, Spain., González-Pérez R; Allergy Department, Hospital Universitario de Canarias, 38320 La Laguna, Tenerife, Spain.; Severe Asthma Unit, Allergy Department, Hospital Universitario de Canarias, 38320 La Laguna, Spain., González-González O; Hospital Universitario de La Palma, 38713 Breña Alta, Santa Cruz de Tenerife, Spain., Mederos-Luis E; Allergy Department, Hospital Universitario de Canarias, 38320 La Laguna, Tenerife, Spain., Sánchez-Machín I; Allergy Department, Hospital Universitario de Canarias, 38320 La Laguna, Tenerife, Spain., Poza-Guedes P; Allergy Department, Hospital Universitario de Canarias, 38320 La Laguna, Tenerife, Spain.; Severe Asthma Unit, Allergy Department, Hospital Universitario de Canarias, 38320 La Laguna, Spain., Sardón O; Division of Pediatric Respiratory Medicine, Hospital Universitario Donostia, San Sebastián, Spain.; Department of Pediatrics, University of the Basque Country (UPV/EHU), San Sebastián, Spain., Corcuera P; Division of Pediatric Respiratory Medicine, Hospital Universitario Donostia, San Sebastián, Spain., Cruz MJ; Department of Respiratory Medicine, Hospital Vall d'Hebron, Barcelona, Spain.; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain., González-Barcala FJ; Department of Respiratory Medicine, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, La Coruña, Spain., Martínez-Rivera C; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.; Department of Respiratory Medicine, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain., Mullol J; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.; Rhinology Unit & Smell Clinic, ENT Department, Clinical and Experimental Respiratory Immunoallergy (IDIBAPS), Universitat de Barcelona, Barcelona, Spain., Muñoz X; Department of Respiratory Medicine, Hospital Vall d'Hebron, Barcelona, Spain.; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain., Olaguibel JM; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.; Department of Allergy, Hospital Universitario de Navarra, Pamplona, Navarra, Spain., Plaza V; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.; Department of Respiratory Medicine, Hospital de la Santa Creu i Sant Pau, Instituto de Investigación Biomédica Sant Pau (IIB Sant Pau), Barcelona, Spain., Quirce S; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.; Department of Allergy, Hospital Universitario La Paz, IdiPAZ, Madrid, Spain., Valero A; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.; Allergy Unit & Severe Asthma Unit, Pneumonology and Allergy Department, Hospital Clínic, IDIBAPS, Universitat de Barcelona, Barcelona, Spain., Sastre J; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.; Department of Allergy, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain., Korta-Murua J; Division of Pediatric Respiratory Medicine, Hospital Universitario Donostia, San Sebastián, Spain., Del Pozo V; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.; Department of Immunology, Instituto de Investigación Sanitaria Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain., Lorenzo-Díaz F; Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), 38200 La Laguna, Tenerife, Spain.; Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna (ULL), La Laguna, Tenerife, Spain., Villar J; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.; Multidisciplinary Organ Dysfunction Evaluation Research Network (MODERN), Research Unit, Hospital Universitario Dr. Negrín, Las Palmas de Gran Canaria, Spain., Pino-Yanes M; Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), 38200 La Laguna, Tenerife, Spain.; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.; Instituto de Tecnologías Biomédicas (ITB), Universidad de La Laguna (ULL), San Cristóbal de La Laguna, Tenerife, Spain., González-Carracedo MA; Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), 38200 La Laguna, Tenerife, Spain.; Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna (ULL), La Laguna, Tenerife, Spain.

Πηγή: Pulmonology [Pulmonology] 2025 Dec 31; Vol. 31 (1), pp. 2416870. Date of Electronic Publication: 2024 Oct 25.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101723786 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2531-0437 (Electronic) Linking ISSN: 25310429 NLM ISO Abbreviation: Pulmonology Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Asthma*/genetics , Asthma*/blood , Asthma*/epidemiology , alpha 1-Antitrypsin*/genetics , alpha 1-Antitrypsin*/blood , alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/blood, Humans ; Male ; Female ; Middle Aged ; Adult ; Spain/epidemiology ; Aged ; Disease Progression ; Genotype

Performance of enhanced liver fibrosis test and indirect serum fibrosis markers for exclusion of advanced liver fibrosis in alpha-1 antitrypsin deficiency.

Συγγραφείς: Kappe NN; Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, the Netherlands; Department of Pulmonology, Leiden University Medical Center, Leiden, the Netherlands., Fromme M; 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., Stolk J; Department of Pulmonology, Leiden University Medical Center, Leiden, the Netherlands., Ferrarotti I; Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Internal Medicine and Therapeutics, Section of Pulmonology, University of Pavia, Pavia Italy., Strnad P; 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., van Hoek B; Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, the Netherlands. Electronic address: b.van_hoek@lumc.nl.

Πηγή: European journal of internal medicine [Eur J Intern Med] 2025 Dec; Vol. 142, pp. 106423. Date of Electronic Publication: 2025 Jul 24.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 9003220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0828 (Electronic) Linking ISSN: 09536205 NLM ISO Abbreviation: Eur J Intern Med Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/blood , Liver Cirrhosis*/blood , Liver Cirrhosis*/diagnosis , Liver Cirrhosis*/etiology , Aspartate Aminotransferases*/blood, Humans ; Male ; Female ; Middle Aged ; Biomarkers/blood ; Retrospective Studies ; Adult ; ROC Curve ; Elasticity Imaging Techniques ; Platelet Count ; Aged ; Predictive Value of Tests ; Severity of Illness Index

Patient-reported outcome measures for use in patients with alpha-1-antitrypsin deficiency: results of a systematic selection process.

Συγγραφείς: Müller K; Center for Clinical Studies, University Hospital Regensburg, Regensburg, Germany., Vogl L; Center for Clinical Studies, University Hospital Regensburg, Regensburg, Germany., Knüttel H; University Library, University of Regensburg, Regensburg, Germany., Greulich T; Department of Medicine, Pulmonary and Critical Care Medicine, University Medical Center Giessen and Marburg, Marburg, Germany.; German Center for Lung Research, Marburg, Germany., Lammert F; Department of Medicine II, Saarland University Medical Center, Homburg, Germany.; Health Sciences, Hannover Medical School, Hanover, Germany., Strnad P; Department of Internal Medicine III, University Hospital Rheinisch-Westfälisch Technische Hochschule, Aachen, Germany., Vogelmeier CF; Department of Medicine, Pulmonary and Critical Care Medicine, University Medical Center Giessen and Marburg, Marburg, Germany., Wilkens M; Gesellschaft für Alpha-1-Antitrypsin-Mangel Erkrankte e.V, Gernsheim, Germany., Bals R; Department of Pulmonary, Allergology and Critical Care Medicine, University Hospital of Saarland, Homburg, Germany., Koller M; Center for Clinical Studies, University Hospital Regensburg, Regensburg, Germany m.koller@ukr.de.

Πηγή: BMJ open respiratory research [BMJ Open Respir Res] 2025 Nov 27; Vol. 12 (1). Date of Electronic Publication: 2025 Nov 27.

Τύπος έκδοσης: Journal Article; Systematic Review

Στοιχεία περιοδικού: Publisher: BMJ Publishing Group Ltd & British Thoracic Society Country of Publication: England NLM ID: 101638061 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4439 (Electronic) Linking ISSN: 20524439 NLM ISO Abbreviation: BMJ Open Respir Res Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/psychology , Patient Reported Outcome Measures* , Quality of Life*, Humans ; Liver Diseases/etiology ; Pulmonary Disease, Chronic Obstructive/etiology ; Surveys and Questionnaires

The mechanism of pathogenic α 1 -antitrypsin aggregation in the human liver.

Συγγραφείς: Aldobiyan I; UCL Respiratory, Division of Medicine and the Institute of Structural and Molecular Biology, University College London, London WC1E 6JF, United Kingdom.; Department of Biochemistry, College of Science, King Saud University, Riyadh 11451, Saudi Arabia., Elliston ELK; UCL Respiratory, Division of Medicine and the Institute of Structural and Molecular Biology, University College London, London WC1E 6JF, United Kingdom., Heyer-Chauhan N; UCL Respiratory, Division of Medicine and the Institute of Structural and Molecular Biology, University College London, London WC1E 6JF, United Kingdom., Arold ST; King Abdullah University of Science and Technology Center of Excellence for Smart Health, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia., Zhao L; Imaging and Characterization Core Lab, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia., Huntington B; King Abdullah University of Science and Technology Center of Excellence for Smart Health, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia., Lowen SM; UCL Respiratory, Division of Medicine and the Institute of Structural and Molecular Biology, University College London, London WC1E 6JF, United Kingdom., Orlova EV; Institute of Structural and Molecular Biology, School of Natural Sciences, Birkbeck, University of London, London WC1E 7HX, United Kingdom., Irving JA; UCL Respiratory, Division of Medicine and the Institute of Structural and Molecular Biology, University College London, London WC1E 6JF, United Kingdom., Lomas DA; UCL Respiratory, Division of Medicine and the Institute of Structural and Molecular Biology, University College London, London WC1E 6JF, United Kingdom.

Πηγή: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2025 Nov 18; Vol. 122 (46), pp. e2507535122. Date of Electronic Publication: 2025 Nov 13.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin*/chemistry , alpha 1-Antitrypsin*/metabolism , alpha 1-Antitrypsin*/genetics , Liver*/metabolism , Liver*/pathology , alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/metabolism , alpha 1-Antitrypsin Deficiency*/pathology , Protein Aggregation, Pathological*/metabolism , Protein Aggregation, Pathological*/genetics, Humans ; Cryoelectron Microscopy ; Protein Aggregates ; Models, Molecular

Matrix metalloproteinases and disease severity among PI*MZ and PI*ZZ individuals in the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) cohort.

Συγγραφείς: Tejwani V; Department of Pulmonary, Integrated Hospital Care Institute, Cleveland Clinic, Cleveland, Ohio, USA tejwanv@ccf.org.; Genomic Sciences and Systems Biology, Cleveland Clinic, Cleveland, Ohio, USA., Bowler RP; Department of Pulmonary, Integrated Hospital Care Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Genomic Sciences and Systems Biology, Cleveland Clinic, Cleveland, Ohio, USA., Serban KA; University of Florida, Gainesville, Florida, USA., Pratte KA; Department of Biostatistics, National Jewish Health, Denver, Colorado, USA., Ortega VE; Mayo Clinic, Rochester, New York, USA., Stoller JK; Cleveland Clinic Foundation, Cleveland, Ohio, USA., Kaminski N; Yale School of Medicine Shield Education Patient Care Research Internal Medicine, Yale School of Medicine Shield Education Patient Care Research, Yale School of Medicine, New Haven, Connecticut, USA., Strange C; Pulmonary and Critical Care Medicine, Medical University of SC, Charleston, SC, South Carolina, USA.

Πηγή: BMJ open respiratory research [BMJ Open Respir Res] 2025 Nov 17; Vol. 12 (1). Date of Electronic Publication: 2025 Nov 17.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: BMJ Publishing Group Ltd & British Thoracic Society Country of Publication: England NLM ID: 101638061 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4439 (Electronic) Linking ISSN: 20524439 NLM ISO Abbreviation: BMJ Open Respir Res Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/complications , Pulmonary Disease, Chronic Obstructive*/genetics , Matrix Metalloproteinases*/genetics , Matrix Metalloproteinases*/metabolism , alpha 1-Antitrypsin*/genetics , Sarcoidosis, Pulmonary*/genetics, Humans ; Male ; Female ; Middle Aged ; Severity of Illness Index ; Adult ; Bronchoalveolar Lavage Fluid/chemistry ; Cohort Studies ; Alleles ; Aged

Quantitative analysis of chest computed tomography in alpha-1-antitrypsin deficiency.

Συγγραφείς: Höger P; Department of Pneumology and Critical Care Medicine, German Center for Lung Research (DZL), University of Heidelberg, Translational Lung Research Center (TLRC-H), Heidelberg, Germany., Benholz J; Department of Pneumology and Critical Care Medicine, German Center for Lung Research (DZL), University of Heidelberg, Translational Lung Research Center (TLRC-H), Heidelberg, Germany., Weinheimer O; Department of Diagnostic and Interventional Radiology, German Center for Lung Research (DZL), University Hospital Heidelberg, Heidelberg, Germany, Translational Lung Research Center Heidelberg (TLRC), Heidelberg, Germany., Wielpütz MO; Department of Diagnostic Radiology and Neuroradiology, University of Greifswald, Greifswald, Germany., Heußel CP; Department of Diagnostic and Interventional Radiology with Nuclear Medicine, Thoraxklinik at University Hospital Heidelberg, Heidelberg, Germany., Bischoff A; Department of Diagnostic and Interventional Radiology, German Center for Lung Research (DZL), University Hospital Heidelberg, Heidelberg, Germany, Translational Lung Research Center Heidelberg (TLRC), Heidelberg, Germany., Eberhardt R; Department of Pneumology and Critical Care Medicine , Asklepios Klinik Barmbek, Hamburg, Germany., Buschulte K; Department of Pneumology and Critical Care Medicine, German Center for Lung Research (DZL), University of Heidelberg, Translational Lung Research Center (TLRC-H), Heidelberg, Germany., Fähndrich S; Department of Pulmonology, University Medical Center Freiburg, Medical Faculty, Freiburg, Germany., Michels-Zetsche JD; Department of Pneumology and Critical Care Medicine, German Center for Lung Research (DZL), University of Heidelberg, Translational Lung Research Center (TLRC-H), Heidelberg, Germany., Ersöz H; Department of Pneumology and Critical Care Medicine, German Center for Lung Research (DZL), University of Heidelberg, Translational Lung Research Center (TLRC-H), Heidelberg, Germany., Rivera AO; Department of Pneumology and Critical Care Medicine, German Center for Lung Research (DZL), University of Heidelberg, Translational Lung Research Center (TLRC-H), Heidelberg, Germany., Herth F; Department of Pneumology and Critical Care Medicine, German Center for Lung Research (DZL), University of Heidelberg, Translational Lung Research Center (TLRC-H), Heidelberg, Germany., Trudzinski FC; Department of Pneumology and Critical Care Medicine, German Center for Lung Research (DZL), University of Heidelberg, Translational Lung Research Center (TLRC-H), Heidelberg, Germany. franziska.trudzinski@med.uni-heidelberg.de.; Department of Pneumology and Critical Care Medicine, Thoraxklinik University of Heidelberg, Röntgenstraße 1, Heidelberg, 69126, Germany. franziska.trudzinski@med.uni-heidelberg.de.

Πηγή: Respiratory research [Respir Res] 2025 Nov 15; Vol. 26 (1), pp. 320. Date of Electronic Publication: 2025 Nov 15.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 101090633 Publication Model: Electronic Cited Medium: Internet ISSN: 1465-993X (Electronic) Linking ISSN: 14659921 NLM ISO Abbreviation: Respir Res Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin Deficiency*/diagnostic imaging , alpha 1-Antitrypsin Deficiency*/blood , Tomography, X-Ray Computed*/methods , Pulmonary Emphysema*/diagnostic imaging , Pulmonary Emphysema*/physiopathology, Humans ; Male ; Middle Aged ; Female ; Retrospective Studies ; Aged ; Adult ; Cohort Studies

A compact base editor rescues AATD-associated liver and lung disease in mouse models.

Συγγραφείς: Jenny Gao; RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA., Bamidele N; RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA., Pires-Ferreira D; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA., Zheng C; RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA., Destefano A; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA., Cheng H; RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA., Tang Q; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA., Cao Y; RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA., Xie J; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA., Gao G; Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Microbiology and Physiological Systems, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA., Gruntman A; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Department of Pediatrics, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Department of Clinical Sciences, Cummings School of Veterinary Medicine at Tufts University, North Grafton, MA 01605, USA., Sontheimer E; RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Department of Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Department of Biochemistry and Molecular Biotechnology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA. Electronic address: erik.sontheimer@umassmed.edu., Flotte TR; Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Department of Pediatrics, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA. Electronic address: terry.flotte@umassmed.edu., Xue W; RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Department of Molecular, Cell, and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Department of Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA. Electronic address: wen.xue@umassmed.edu.

Πηγή: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2025 Nov 05; Vol. 33 (11), pp. 5817-5828. Date of Electronic Publication: 2025 Aug 28.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-0024 (Electronic) Linking ISSN: 15250016 NLM ISO Abbreviation: Mol Ther Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Gene Editing*/methods , alpha 1-Antitrypsin*/genetics , alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/therapy , alpha 1-Antitrypsin Deficiency*/complications , Liver Diseases*/therapy , Liver Diseases*/genetics , Liver Diseases*/etiology , Lung Diseases*/therapy , Lung Diseases*/genetics , Lung Diseases*/etiology , Genetic Therapy*/methods, Animals ; Mice ; Disease Models, Animal ; Mice, Transgenic ; Humans ; Mutation ; CRISPR-Cas Systems ; Dependovirus/genetics ; Genetic Vectors/genetics

Administrative coding for alpha-1 antitrypsin deficiency including the pi*ZZ phenotype is accurate in Sweden.

Συγγραφείς: Boeckmans J; Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden.; In Vitro Liver Disease Modelling Team, Department of In Vitro Toxicology and Dermato-Cosmetology, Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel, Brussels, Belgium., Ullman S; Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden., Ludvigsson JF; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.; Department of Pediatrics, Örebro University Hospital, Örebro, Sweden.; Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA., Wester A; Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden., Wahlin S; Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden.; Division of Hepatology, Department of Upper GI, Karolinska University Hospital, Stockholm, Sweden., Hagström H; Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden.; Division of Hepatology, Department of Upper GI, Karolinska University Hospital, Stockholm, Sweden.

Πηγή: Scandinavian journal of gastroenterology [Scand J Gastroenterol] 2025 Nov; Vol. 60 (11), pp. 1096-1103. Date of Electronic Publication: 2025 Aug 11.

Τύπος έκδοσης: Journal Article; Validation Study

Στοιχεία περιοδικού: Publisher: Informa Healthcare Country of Publication: England NLM ID: 0060105 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1502-7708 (Electronic) Linking ISSN: 00365521 NLM ISO Abbreviation: Scand J Gastroenterol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin Deficiency*/classification , International Classification of Diseases* , Clinical Coding*/standards, Humans ; Sweden ; Phenotype ; Adult ; Male ; Female ; Child ; Middle Aged ; Registries ; Adolescent ; Aged ; Child, Preschool ; Young Adult ; Infant ; Liver Diseases

Pioglitazone reduces hepatic α-1 antitrypsin accumulation through autophagy and AMPK activation in α-1 antitrypsin-deficient mice.

Συγγραφείς: Lu Y; Department of Neurosurgery, University of Florida, Gainesville, Florida, United States., Oshins R; Division of Pulmonary, Critical Care & Sleep Medicine, Department of Medicine, University of Florida, Gainesville, Florida, United States., Maptue NR; Division of Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Florida, Gainesville, Florida, United States., Shen Q; Division of Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Florida, Gainesville, Florida, United States.; Department of Biochemistry and Molecular Biology, University of Florida, Gainesville, Florida, United States., Khemtong C; Division of Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Florida, Gainesville, Florida, United States.; Department of Biochemistry and Molecular Biology, University of Florida, Gainesville, Florida, United States., Cusi K; Division of Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Florida, Gainesville, Florida, United States., Brantly M; Division of Pulmonary, Critical Care & Sleep Medicine, Department of Medicine, University of Florida, Gainesville, Florida, United States., Khodayari N; Division of Pulmonary, Critical Care & Sleep Medicine, Department of Medicine, University of Florida, Gainesville, Florida, United States.

Πηγή: American journal of physiology. Gastrointestinal and liver physiology [Am J Physiol Gastrointest Liver Physiol] 2025 Nov 01; Vol. 329 (5), pp. G585-G596. Date of Electronic Publication: 2025 Sep 29.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901227 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1547 (Electronic) Linking ISSN: 01931857 NLM ISO Abbreviation: Am J Physiol Gastrointest Liver Physiol Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Pioglitazone*/pharmacology , Autophagy*/drug effects , AMP-Activated Protein Kinases*/metabolism , alpha 1-Antitrypsin Deficiency*/drug therapy , alpha 1-Antitrypsin Deficiency*/metabolism , alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/pathology , alpha 1-Antitrypsin*/metabolism , alpha 1-Antitrypsin*/genetics , Liver*/drug effects , Liver*/metabolism , Liver*/pathology, Animals ; Mice ; Humans ; Hepatocytes/drug effects ; Hepatocytes/metabolism ; Mice, Transgenic ; Male ; Signal Transduction

Alpha-1 antitrypsin deficiency and granulomatosis with polyangiitis: a systematic review and meta-analysis.

Συγγραφείς: Alluhibi R; UCL Respiratory, University College London, London, UK reem.alluhibi.23@ucl.ac.uk.; Department of Respiratory Care, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.; King Abdullah International Medical Research Centre, Jeddah, Saudi Arabia., Baradwaaj S; UCL Respiratory, University College London, London, UK., Heyer-Chauhan N; UCL Respiratory, University College London, London, UK., Marshall A; Hepatology, Royal Free London NHS Foundation Trust, London, UK., Lomas DA; UCL Respiratory, University College London, London, UK., Salama AD; UCL Centre for Kidney and Bladder Health, Royal Free Hospital, London, UK., Hurst JR; UCL Respiratory, University College London, London, UK.

Πηγή: European respiratory review : an official journal of the European Respiratory Society [Eur Respir Rev] 2025 Oct 22; Vol. 34 (178). Date of Electronic Publication: 2025 Oct 22 (Print Publication: 2025).

Τύπος έκδοσης: Systematic Review; Journal Article; Meta-Analysis; Review

Στοιχεία περιοδικού: Publisher: European Respiratory Society Country of Publication: England NLM ID: 9111391 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1600-0617 (Electronic) Linking ISSN: 09059180 NLM ISO Abbreviation: Eur Respir Rev Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Granulomatosis with Polyangiitis*/genetics , Granulomatosis with Polyangiitis*/epidemiology , Granulomatosis with Polyangiitis*/diagnosis , alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/epidemiology , alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin*/genetics, Humans ; Genetic Predisposition to Disease ; Risk Factors ; Phenotype ; Prevalence ; Risk Assessment

Improving Screening for Alpha-1 Antitrypsin Deficiency in Adults with COPD.

Συγγραφείς: Smith MD, Couch KA

Πηγή: Joint Commission journal on quality and patient safety [Jt Comm J Qual Patient Saf] 2025 Oct; Vol. 51 (10), pp. 659-665. Date of Electronic Publication: 2025 Jul 11.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101238023 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1938-131X (Electronic) Linking ISSN: 15537250 NLM ISO Abbreviation: Jt Comm J Qual Patient Saf Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin Deficiency*/complications , Pulmonary Disease, Chronic Obstructive*/complications , Mass Screening*/organization & administration , Mass Screening*/methods , Quality Improvement*/organization & administration, Humans ; Male ; Female ; Middle Aged ; Primary Health Care/organization & administration ; Adult ; United States ; Aged

Diagnosis and Monitoring Pathways Using Non-Invasive Tests in Patients With Alpha-1 Antitrypsin Deficiency-Associated Liver Disease: Results From an Expert Delphi Panel.

Συγγραφείς: Clark VC; University of Florida, Gainesville, Florida, USA., Price MA; RTI Health Solutions, Research Triangle Park, North Carolina, USA., Russo J; RTI Health Solutions, Research Triangle Park, North Carolina, USA., Loomba R; University of California San Diego School of Medicine, San Diego, California, USA., Turner AM; University of Birmingham, Birmingham, UK., Strnad P; University Hospital RWTH Aachen, Aachen, Germany.

Πηγή: United European gastroenterology journal [United European Gastroenterol J] 2025 Oct; Vol. 13 (8), pp. 1446-1455. Date of Electronic Publication: 2025 Mar 12.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Wiley Country of Publication: England NLM ID: 101606807 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2050-6414 (Electronic) Linking ISSN: 20506406 NLM ISO Abbreviation: United European Gastroenterol J Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin Deficiency*/genetics , Liver Cirrhosis*/diagnosis , Liver Cirrhosis*/etiology , Liver Diseases*/diagnosis , Liver Diseases*/etiology, Humans ; Delphi Technique ; Consensus ; Elasticity Imaging Techniques/methods ; Liver/pathology ; Liver/diagnostic imaging ; Magnetic Resonance Imaging

Characterisation of patients with Alpha-1 antitrypsin deficiency using unsupervised machine learning tools.

Συγγραφείς: Villar-Aguilar L; Pulmonary Department, Hospital Álvaro Cunqueiro, Vigo, Spain; NeumoVigo I+i, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain; Universidade de Vigo, Vigo, Spain. Electronic address: Laura.Villar.Aguilar@sergas.es., Casal-Guisande M; NeumoVigo I+i, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain; Fundación Pública Galega de Investigación Biomédica Galicia Sur, Hospital Álvaro Cunqueiro, Vigo, Spain; Centro de Investigación Biomédica en Red Enfermedades Respiratorias, CIBERES ISCIII, Madrid, Spain. Electronic address: manuel.casal.guisande@uvigo.es., Fernández-Villar A; Pulmonary Department, Hospital Álvaro Cunqueiro, Vigo, Spain; NeumoVigo I+i, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain; Universidade de Vigo, Vigo, Spain; Centro de Investigación Biomédica en Red Enfermedades Respiratorias, CIBERES ISCIII, Madrid, Spain. Electronic address: Jose.Alberto.Fernandez.Villar@sergas.es., García-Rodríguez E; Pulmonary Department, Hospital Álvaro Cunqueiro, Vigo, Spain; NeumoVigo I+i, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain. Electronic address: Maria.Esmeralda.Garcia.Rodriguez@sergas.es., Priegue-Carrera A; NeumoVigo I+i, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain; Fundación Pública Galega de Investigación Biomédica Galicia Sur, Hospital Álvaro Cunqueiro, Vigo, Spain. Electronic address: ana.priegue@iisgaliciasur.es., Miravitlles M; Pulmonary Department, Hospital Universitario Vall d'Hebron, Vall d'Hebron Institut de Recerca (VHIR), Barcelona Hospital Campus, Barcelona, Spain. Electronic address: marcm@separ.es., Torres-Durán M; Pulmonary Department, Hospital Álvaro Cunqueiro, Vigo, Spain; NeumoVigo I+i, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain; Centro de Investigación Biomédica en Red Enfermedades Respiratorias, CIBERES ISCIII, Madrid, Spain. Electronic address: Maria.Luisa.Torres.Duran@sergas.es.

Πηγή: Respiratory medicine [Respir Med] 2025 Oct; Vol. 247, pp. 108278. Date of Electronic Publication: 2025 Jul 29.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Elsevier Country of Publication: England NLM ID: 8908438 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-3064 (Electronic) Linking ISSN: 09546111 NLM ISO Abbreviation: Respir Med Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin Deficiency*/epidemiology , alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/physiopathology , alpha 1-Antitrypsin Deficiency*/diagnosis , Unsupervised Machine Learning*, Humans ; Female ; Male ; Middle Aged ; Pilot Projects ; Cross-Sectional Studies ; Adult ; Pulmonary Emphysema/etiology ; Pulmonary Emphysema/epidemiology ; Spain/epidemiology ; Aged ; Registries ; Bronchiectasis/epidemiology

Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact.

Συγγραφείς: Leon C; CNRS, INSERM, BRIC, University of Bordeaux, Bordeaux, U1312, France., Odou MF; CHU Lille, Department of Biochemistry and Molecular Biology 'Hormonologie, Métabolisme-Nutrition, Oncologie', Lille, France.; Univ. Lille, Inserm, CHU Lille, U1286 - Infinite, Lille, F-59000, France., Roquelaure B; Department of Pediatrics, Hôpital de la Timone Enfants, Assistance-Publique des Hôpitaux de Marseille (AP-HM), Marseille, France., Lebreton L; Département de Biochimie, Hôpital Pellegrin, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France., Ruiz M; Department of Pediatric Hepatology, Gastroenterology and Nutrition, French Reference Center for Biliary Atresia and Genetic Cholestasis, European Reference Network Rare-Liver, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France., Schneider CV; Department of Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany., Renoux C; Service de Biochimie et de Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France., Evrard A; CHU Lille, Department of Biochemistry and Molecular Biology 'Hormonologie, Métabolisme-Nutrition, Oncologie', Lille, France., Balduyck M; CHU Lille, Department of Biochemistry and Molecular Biology 'Hormonologie, Métabolisme-Nutrition, Oncologie', Lille, France.; EA 7364 RADEME, laboratoire de biochimie et biologie moléculaire, Université de Lille, Lille, France., Dechomet M; Department of Biological Immunology, Hôpital Lyon Sud, Hospices Civils de Lyon, Lyon, France., Lombard C; Department of Biological Immunology, Hôpital Lyon Sud, Hospices Civils de Lyon, Lyon, France., Butori-Pepino M; Pediatric Gastroenterology Department, Hôpitaux pédiatriques de Nice CHU-Lenval, Nice, France., Schneider KM; Department of Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany., Marin V; Département de Biochimie, Hôpital Pellegrin, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France., di-Tomasso S; CNRS, INSERM, Univ. Bordeaux, TBM-Core, US5, UAR 3427, OncoProt, Bordeaux, F-33000, France., Dourthe C; CNRS, INSERM, BRIC, University of Bordeaux, Bordeaux, U1312, France.; CNRS, INSERM, Univ. Bordeaux, TBM-Core, US5, UAR 3427, OncoProt, Bordeaux, F-33000, France., Dupuy JW; CNRS, INSERM, Univ. Bordeaux, TBM-Core, US5, UAR 3427, OncoProt, Bordeaux, F-33000, France., Raymond AA; CNRS, INSERM, BRIC, University of Bordeaux, Bordeaux, U1312, France.; CNRS, INSERM, Univ. Bordeaux, TBM-Core, US5, UAR 3427, OncoProt, Bordeaux, F-33000, France., Collardeau-Frachon S; Department of Pathology, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France., Haffner A; Department of Pathology, Hôpital de la Timone, Assistance-Publique des Hôpitaux de Marseille (AP-HM), Marseille, France., Fritih R; Department of Pathology, Hôpital de la Timone, Assistance-Publique des Hôpitaux de Marseille (AP-HM), Marseille, France., Goubert E; Department of Pediatrics, Hôpital de la Timone Enfants, Assistance-Publique des Hôpitaux de Marseille (AP-HM), Marseille, France., Geromel V; Service de génétique-oncogénétique moléculaire Eurofins-Biomnis, Lyon, France., Joly P; Service de Biochimie et de Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France., Fabre A; Department of Pediatrics, Hôpital de la Timone Enfants, Assistance-Publique des Hôpitaux de Marseille (AP-HM), Marseille, France.; MMG, INSERM, Aix Marseille University, Marseille, France., Bouchecareilh M; CNRS, INSERM, BRIC, University of Bordeaux, Bordeaux, U1312, France. marion.bouchecareilh@cnrs.fr.

Πηγή: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Nov 21; Vol. 20 (1), pp. 615. Date of Electronic Publication: 2025 Nov 21.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin*/genetics , alpha 1-Antitrypsin*/metabolism , Mutation, Missense*/genetics , alpha 1-Antitrypsin Deficiency*/genetics, Humans ; Male ; Female

A new SERPINA1 null allele of the PI*S-plus type: PI*Q0 Tegueste .

Συγγραφείς: Hernández Pérez JM; Department of Respiratory Medicine, Complejo Hospitalario Universitario Ntra. Sra. de Candelaria, Tenerife, Spain., Escuela-Escobar A; Genetics Laboratory, Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias (IUETSPC), Universidad de La Laguna (ULL), Tenerife, Spain; Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), Tenerife, Spain., Travieso RL; Clinical Analysis Service, Genetics Unit, Complejo Hospitalario Universitario Ntra. Sra. de Candelaria, Tenerife, Spain., Bugallo FM; Clinical Analysis Service, Genetics Unit, Complejo Hospitalario Universitario Ntra. Sra. de Candelaria, Tenerife, Spain., González-Carracedo MA; Genetics Laboratory, Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias (IUETSPC), Universidad de La Laguna (ULL), Tenerife, Spain; Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), Tenerife, Spain. Electronic address: mgonzalc@ull.edu.es., Pérez-Pérez JA; Genetics Laboratory, Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias (IUETSPC), Universidad de La Laguna (ULL), Tenerife, Spain; Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), Tenerife, Spain.

Πηγή: Gene [Gene] 2025 Oct 10; Vol. 968, pp. 149741. Date of Electronic Publication: 2025 Aug 30.

Τύπος έκδοσης: Journal Article; Case Reports

Στοιχεία περιοδικού: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin*/blood , alpha 1-Antitrypsin*/genetics , alpha 1-Antitrypsin Deficiency*/genetics, Humans ; Female ; Middle Aged ; Loss of Function Mutation ; RNA Stability

Galectin-8 binding to alpha-1 antitrypsin is a physiological mechanism in healthy individuals but exacerbates the symptoms of alpha-1 antitrypsin deficiency.

Συγγραφείς: Sayed H; Engineering Research Center of Glycoconjugates Ministry of Education, Jilin Provincial Key Laboratory of Chemistry and Biology of Changbai Mountain Natural Drugs, School of Life Sciences, Northeast Normal University, Changchun, 130024, China., Mayo KH; Department of Biochemistry, Molecular Biology & Biophysics, 6-155 Jackson Hall, University of Minnesota, 321 Church Street, Minneapolis, MN, 55455, USA., Zhou Y; Engineering Research Center of Glycoconjugates Ministry of Education, Jilin Provincial Key Laboratory of Chemistry and Biology of Changbai Mountain Natural Drugs, School of Life Sciences, Northeast Normal University, Changchun, 130024, China., Tai G; Engineering Research Center of Glycoconjugates Ministry of Education, Jilin Provincial Key Laboratory of Chemistry and Biology of Changbai Mountain Natural Drugs, School of Life Sciences, Northeast Normal University, Changchun, 130024, China., Su J; Engineering Research Center of Glycoconjugates Ministry of Education, Jilin Provincial Key Laboratory of Chemistry and Biology of Changbai Mountain Natural Drugs, School of Life Sciences, Northeast Normal University, Changchun, 130024, China. Electronic address: sujy100@nenu.edu.cn.

Πηγή: Archives of biochemistry and biophysics [Arch Biochem Biophys] 2025 Oct; Vol. 772, pp. 110577. Date of Electronic Publication: 2025 Aug 06.

Τύπος έκδοσης: Journal Article

Στοιχεία περιοδικού: Publisher: Elsevier Country of Publication: United States NLM ID: 0372430 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0384 (Electronic) Linking ISSN: 00039861 NLM ISO Abbreviation: Arch Biochem Biophys Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin*/metabolism , alpha 1-Antitrypsin*/chemistry , Galectins*/metabolism , Galectins*/chemistry , alpha 1-Antitrypsin Deficiency*/metabolism, Humans ; Animals ; CHO Cells ; Cricetulus ; Protein Binding ; HeLa Cells ; Kinetics ; Proteolysis ; Trypsin/metabolism

Applications of Artificial Intelligence in Alpha-1 Antitrypsin Deficiency: A Systematic Review from a Respiratory Medicine Perspective.

Συγγραφείς: Casal-Guisande M; Fundación Pública Galega de Investigación Biomédica Galicia Sur, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain.; NeumoVigo I+i Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, 36312 Vigo, Spain.; Centro de Investigación Biomédica en Red, CIBERES ISCIII, 28029 Madrid, Spain., Villar-Aguilar L; NeumoVigo I+i Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, 36312 Vigo, Spain.; Pulmonary Department, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain.; School of Industrial Engineering, University of Vigo, 36310 Vigo, Spain., Fernández-Villar A; NeumoVigo I+i Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, 36312 Vigo, Spain.; Centro de Investigación Biomédica en Red, CIBERES ISCIII, 28029 Madrid, Spain.; Pulmonary Department, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain.; School of Industrial Engineering, University of Vigo, 36310 Vigo, Spain., García-Rodríguez E; NeumoVigo I+i Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, 36312 Vigo, Spain.; Pulmonary Department, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain., Casal A; NeumoVigo I+i Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, 36312 Vigo, Spain.; Pulmonary Department, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain., Torres-Durán M; NeumoVigo I+i Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, 36312 Vigo, Spain.; Centro de Investigación Biomédica en Red, CIBERES ISCIII, 28029 Madrid, Spain.; Pulmonary Department, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain.

Πηγή: Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2025 Sep 30; Vol. 61 (10). Date of Electronic Publication: 2025 Sep 30.

Τύπος έκδοσης: Journal Article; Systematic Review; Review

Στοιχεία περιοδικού: Publisher: MDPI Country of Publication: Switzerland NLM ID: 9425208 Publication Model: Electronic Cited Medium: Internet ISSN: 1648-9144 (Electronic) Linking ISSN: 1010660X NLM ISO Abbreviation: Medicina (Kaunas) Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin Deficiency*/physiopathology , Artificial Intelligence*/trends , Artificial Intelligence*/standards , Pulmonary Medicine*/methods , Pulmonary Medicine*/trends, Humans ; Pulmonary Disease, Chronic Obstructive

Plasma proteome correlations with liver stiffness in pediatric cholestasis implicate epithelial to mesenchymal transition.

Συγγραφείς: Shneider BL; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Kanchi RS; Department of Molecular and Cellular Biology, Baylor College of Medicine, Advanced Technology Cores, Houston, Texas, USA., Grimm SL; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA., Devaraj S; Department of Pathology, Baylor College of Medicine, Houston, Texas, USA., Emamaullee J; Department of Surgery, University of Southern California School of Medicine, Los Angeles, California, USA., Schraw J; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Lupo PJ; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Bezerra JA; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA. *Previous address: Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA., Loomes KM; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA., Magee JC; Department of Surgery, University of Michigan School of Medicine, Ann Arbor, Michigan, USA., Sokol RJ; Department of Pediatrics and Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA., Wang KS; Department of Surgery, University of Toronto School of Medicine, Toronto, Ontario, Canada., Kriegmeier A; Department of Pediatrics, Northwestern University School of Medicine, Chicago, Illinois, USA., Hsu E; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA., Molleston JP; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA., Rosenthal P; Department of Pediatrics, University of California, San Francisco School of Medicine, San Francisco, California, USA., Kohli R; Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, CA, USA., Karpen SJ; Department of Internal Medicine, VCU-Stravitz-Sanyal Institute for Metabolic Health and Liver Disease, Virginia Commonwealth University, Richmond, Virginia, USA., Horslen SP; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Jensen MK; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Barbetta A; Department of Surgery, University of Southern California School of Medicine, Los Angeles, California, USA., Coarfa C; Department of Molecular and Cellular Biology, Baylor College of Medicine, The Dan L Duncan Comprehensive Cancer Center, The Center of Precision Environmental Health, Houston, Texas, USA.

Συλλογικό Έργο: Childhood Liver Disease Research Network

Πηγή: Hepatology communications [Hepatol Commun] 2025 Sep 29; Vol. 9 (10). Date of Electronic Publication: 2025 Sep 29 (Print Publication: 2025).

Τύπος έκδοσης: Journal Article; Multicenter Study

Στοιχεία περιοδικού: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 101695860 Publication Model: eCollection Cited Medium: Internet ISSN: 2471-254X (Electronic) Linking ISSN: 2471254X NLM ISO Abbreviation: Hepatol Commun Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Alagille Syndrome*/blood , Alagille Syndrome*/complications , Alagille Syndrome*/pathology , alpha 1-Antitrypsin Deficiency*/blood , alpha 1-Antitrypsin Deficiency*/complications , Biliary Atresia*/blood , Biliary Atresia*/complications , Biliary Atresia*/pathology , Cholestasis*/blood , Cholestasis*/pathology , Epithelial-Mesenchymal Transition* , Liver*/pathology , Liver*/diagnostic imaging, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Case-Control Studies ; Cross-Sectional Studies ; Elasticity Imaging Techniques ; Proteome/analysis

Phenotypic Expression of Respiratory Diseases and Tailored Treatment in Patients with Intermediate Alpha-1 Antitrypsin Deficiency: Evidence from a Retrospective Analysis of a Selected Cohort of Patients.

Συγγραφείς: Annunziata A; Respiratory Pathophysiology and Rehabilitation Unit, Azienda Ospedaliera di Rilievo Nazionale dei Colli, Monaldi Hospital, 80131 Naples, Italy., Fiorentino G; Respiratory Pathophysiology and Rehabilitation Unit, Azienda Ospedaliera di Rilievo Nazionale dei Colli, Monaldi Hospital, 80131 Naples, Italy., Simioli F; Respiratory Pathophysiology and Rehabilitation Unit, Azienda Ospedaliera di Rilievo Nazionale dei Colli, Monaldi Hospital, 80131 Naples, Italy., Atripaldi L; Respiratory Pathophysiology and Rehabilitation Unit, Azienda Ospedaliera di Rilievo Nazionale dei Colli, Monaldi Hospital, 80131 Naples, Italy., Balestrino M; Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Azienda Ospedaliera di Rilievo Nazionale dei Colli, Monaldi Hospital, 80131 Naples, Italy., Zuccarini G; Respiratory Diseases Unit, Ospedale Santo Spirito, 65124 Pescara, Italy., Piras B; Respiratory Unit, Department of Medical, Surgical and Experimental Sciences, University of Sassari, Via San Pietro, 07100 Sassari, Italy., Libra A; Department of Clinical and Experimental Medicine, Policlinico 'G. Rodolico-San Marco', University of Catania, 95123 Catania, Italy., Pino F; Department of Clinical and Experimental Medicine, Policlinico 'G. Rodolico-San Marco', University of Catania, 95123 Catania, Italy., Di Micco P; UOC Medicina Interna, P.O. Santa Maria delle Grazie, Pozzuoli, ASL Napoli2 Nord, 80076 Naples, Italy., Siniscalchi C; Internal Medicine Department, Parma University Hospital, 43126 Parma, Italy., Ferrarotti I; Department of Internal Medicine and Therapeutics, Pulmonology Unit, University of Pavia, 27100 Pavia, Italy., Aronne L; Respiratory Pathophysiology and Rehabilitation Unit, Azienda Ospedaliera di Rilievo Nazionale dei Colli, Monaldi Hospital, 80131 Naples, Italy., Manzo R; Respiratory Pathophysiology and Rehabilitation Unit, Azienda Ospedaliera di Rilievo Nazionale dei Colli, Monaldi Hospital, 80131 Naples, Italy., Vancheri C; Department of Clinical and Experimental Medicine, Policlinico 'G. Rodolico-San Marco', University of Catania, 95123 Catania, Italy., Calabrese C; Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Azienda Ospedaliera di Rilievo Nazionale dei Colli, Monaldi Hospital, 80131 Naples, Italy.

Πηγή: Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2025 Sep 25; Vol. 61 (10). Date of Electronic Publication: 2025 Sep 25.

Τύπος έκδοσης: Journal Article; Multicenter Study

Στοιχεία περιοδικού: Publisher: MDPI Country of Publication: Switzerland NLM ID: 9425208 Publication Model: Electronic Cited Medium: Internet ISSN: 1648-9144 (Electronic) Linking ISSN: 1010660X NLM ISO Abbreviation: Medicina (Kaunas) Subsets: MEDLINE

Ιατρικοί όροι (MeSH): alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/physiopathology , alpha 1-Antitrypsin Deficiency*/drug therapy, Humans ; Retrospective Studies ; Male ; Female ; Middle Aged ; Pulmonary Disease, Chronic Obstructive/drug therapy ; Pulmonary Disease, Chronic Obstructive/physiopathology ; Phenotype ; Quality of Life ; Aged ; Cohort Studies ; alpha 1-Antitrypsin/blood ; Pulmonary Emphysema ; Adult ; Surveys and Questionnaires