The Importance of Reference Centers and Registries for Rare Diseases: The Example of Alpha-1 Antitrypsin Deficiency.

The Importance of Reference Centers and Registries for Rare Diseases: The Example of Alpha-1 Antitrypsin Deficiency. COPD. 2020 Aug;17(4):346-354 Authors: Miravitlles M, Nuñez A, Torres-Durán M, Casas-Maldonado F, Rodríguez-Hermosa JL, López-Campos JL, Calle M, Rodríguez E, Esquinas C, Barrecheguren M Abstract Alpha-1 antitrypsin deficiency (AATD) is a rare and underdiagnosed disease that is associated with the development of liver disease in adults and children and pulmonary emphysema in adults. Several studies have shown that there is limited knowledge about the disease and its diagnosis among health care providers, and there is an important inequity in the access to specialized care and appropriate treatment across Europe. The European Commision and the European Respiratory Society (ERS) recommend that the care of patients with AATD must be organized in reference centers at national or regional levels. These reference centers must provide optimal clinical care in terms of adequate diagnostic techniques, such as phenotyping and genotyping, and ensure access to treatment according to guidelines. Reference centers should also provide continuous medical education for health care professionals, genetic counseling, collaboration with patient associations and promote collaborative research and clinical trials with new and existing treatments for the disease. These centers must have a registry of their activity and collaborat...
Source: COPD: Journal of Chronic Obstructive Pulmonary Disease - Category: Respiratory Medicine Tags: COPD Source Type: research

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CONCLUSION: When gastroenterologists encounter NAFLD/NASH patients, serum CK should be verified. If hyperCKemia, frontal baldness, a hatched face, history of cataract surgery, and grip myotonia are noted, the possibility of MD may be considered. PMID: 33033573 [PubMed]
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
CONCLUSION: GA-MRI is an effective noninvasive method that may be useful for the differentiation of NASH from isolated steatosis, and could help to avoid liver biopsy in patients with NAFLD. PMID: 33033571 [PubMed]
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
Authors: Philips CA, Ahamed R, Rajesh S, George T, Mohanan M, Augustine P Abstract With growing antipathy toward conventional prescription drugs due to the fear of adverse events, the general and patient populations have been increasingly using complementary and alternative medications (CAMs) for managing acute and chronic diseases. The general misconception is that natural herbal-based preparations are devoid of toxicity, and hence short- and long-term use remain justified among people as well as the CAM practitioners who prescribe these medicines. In this regard, Ayurvedic herbal medications have become one of th...
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
Authors: Chung W, Promrat K, Wands J Abstract Diabetes mellitus (DM) negatively affects the development and progression of chronic liver diseases (CLD) of various etiologies. Concurrent DM and CLD are also associated with worse clinical outcomes with respect to mortality, the occurrence of hepatic decompensation, and the development of hepatocellular carcinoma (HCC). Unfortunately, early diagnosis and optimal treatment of DM can be challenging, due to the lack of established clinical guidelines as well as the medical complexity of this patient population. We conducted an exploratory review of relevant literature to...
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
Authors: Arab JP, Dirchwolf M, Álvares-da-Silva MR, Barrera F, Benítez C, Castellanos-Fernandez M, Castro-Narro G, Chavez-Tapia N, Chiodi D, Cotrim H, Cusi K, de Oliveira CPMS, Díaz J, Fassio E, Gerona S, Girala M, Hernandez N, Marciano S, Masson W, Mendez-Sanchez N, Leite N, Lozano A, Padilla M, Panduro A, Paraná R, Parise E, Perez M, Poniachik J, Restrepo JC, Ruf A, Silva M, Tagle M, Tapias M, Torres K, Vilar-Gomez E, Costa Gil JE, Gadano A, Arrese M Abstract Non-alcoholic fatty liver disease (NAFLD) currently represents an epidemic worldwide. NAFLD is the most frequently diagnosed chr...
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research
CONCLUSION: The ultrasonography measure of right liver lobe diameter by itself can reliably identify patients with NAFLD with a good sensitivity and specificity, however, this can be improved by adding the LAP mathematical index in our population. PMID: 33031969 [PubMed - as supplied by publisher]
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research
CONCLUSIONS: Hence, it is important to work with patients and their families to identify and strengthen adaptive and coping behaviors. That is possible only through the synergistic working of a multidisciplinary team made up of experienced doctors, psychologists, and social workers while in contact with patient Associations. PMID: 33034432 [PubMed - as supplied by publisher]
Source: Giornale Italiano di Dermatologia e Venereologia - Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research
In conclusion, in this database study of elderly patients coded with NAFLD no independent association with incident dementia was detected. Risk assessment regarding dementia in patients with NAFLD should be carried out in the same way as for metabolic burdened patients.
Source: Digestive Diseases and Sciences - Category: Gastroenterology Source Type: research
AbstractCirrhosis describes the development of excess fibrous tissue around regenerative nodules in response to chronic liver injury and usually leads to irreversible organ damage and end-stage liver disease. During the development of cirrhosis, the formation of collagenous scar tissue is paralleled by a reorganization and remodeling of the hepatic vascular system. To date, macrovascular remodeling in various cirrhosis models has been examined using three-dimensional (3D) imaging modalities, while microvascular changes have been studied mainly by two-dimensional (2D) light microscopic and electron microscopic imaging. Here...
Source: Angiogenesis - Category: Molecular Biology Source Type: research
α1-antitrypsin deficiency (AATD) is the most common hereditary disorder in adults. It is associated with an increased risk of developing pulmonary emphysema and liver disease. The pulmonary emphysema in AATD is strongly linked to smoking, but even a proportion of never-smokers develop progressive lung disease. A large proportion of individuals affected remain undiagnosed and therefore without access to appropriate care and treatment. The most recent international statement on AATD was published by the American Thoracic Society and the European Respiratory Society in 2003. Since then there has been a continuous develo...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: COPD and smoking Original Articles: ERS statements Source Type: research
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