دورية أكاديمية
Lessons from the Past: Some Histories of Alpha-1 Antitrypsin Deficiency Before Its Discovery
| العنوان: | Lessons from the Past: Some Histories of Alpha-1 Antitrypsin Deficiency Before Its Discovery |
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| المؤلفون: | Perciaccante, A., Charlier, P., Negri, C., Coralli, A., Appenzeller, O., Bianucci, R. |
| المساهمون: | Laboratoire de Droit des Affaires et Nouvelles Technologies (DANTE), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), Otto Appenzeller thanks the New Mexico Health Enhancement and Marathon Clinics Research Foundation (NMHEMC) Research Foundation for financial support |
| المصدر: | ISSN: 1541-2555 ; EISSN: 1541-2563. |
| بيانات النشر: | HAL CCSD Taylor & Francis |
| سنة النشر: | 2018 |
| المجموعة: | Université de Versailles Saint-Quentin-en-Yvelines: HAL-UVSQ |
| مصطلحات موضوعية: | Alpha1-antitrypsin, deficiency, mummies, histology, metagenomics, Literature and medicine, [SHS]Humanities and Social Sciences |
| الوصف: | International audience ; A1AT deficiency - a genetically inherited autosomal codominant disease with more than 120 identified alleles -was first identified by Laurell and Eriksson in 1963. The most common hereditary disorder in adults, A1ATcauses an increased risk of developing pulmonary emphysema and liver disease. In A1AT patients, lung disease generally presents at a younger age than “usual” chronic obstructive pulmonary disease (COPD) andit may be misdiagnosed as asthma. Because A1AT deficiency patients can show the same clinical featuresas non-deficient COPD (including increased evidence of bronchiectasis, frequent exacerbations, impairedhealth status and a degree of reversibility of airflow obstruction), the World Health Organization recom-mend to test every patient with a diagnosis of COPD or adult-onset asthma for A1AT deficiency. Despitethese recommendations, the epidemiology of A1AT deficiency remains uncertain. Although recently discov-ered A1AT deficiency has affected human populations since antiquity. By using scientific data and recentlystudied skeletons and historical cases, we show that it is now possible to reconstruct the natural history ofpathological processes, whether due to genetic, infectious or environmental factors. We believe that theevolution of disease in patients and research to elucidate the relationship between social science and environmental are pertinent contemporaneous subjects. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | hal-04516464; https://hal.science/hal-04516464Test |
| DOI: | 10.1080/15412555.2017.1421151 |
| الإتاحة: | https://doi.org/10.1080/15412555.2017.1421151Test https://hal.science/hal-04516464Test |
| رقم الانضمام: | edsbas.DCF4D7A5 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1080/15412555.2017.1421151 |
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