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Alpha 1 Antitrypsin Deficiency Pathophysiology, Symptoms, Diagnosis, Treatment
Quality in SportIntroduction: This review paper aims to emphasize how Alpha-1-antitrypsin deficiency is how can lead to serious disease states, indicating the pathophysiology, symptoms, diagnostic possibilities, therapeutic methods and proving that early diagnostics for
Kamil Kościelecki +9 more
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Journal of Medical Case Reports, 2023 Background Alpha-1 antitrypsin, also known as alpha1 proteinase inhibitor, is a protein 90% synthesized by hepatocytes. Alpha-1 antitrypsin deficiency should be suspected if patients have unexplained emphysema or liver disease in the absence of others ...
Anna Annunziata +5 more
doaj +1 more source
Management of chronic airway diseases:What can we learn from real-life data? [PDF]
, 2017 Chronic obstructive pulmonary disease (COPD), alpha-1 antitrypsin deficiency (AATD) and non-cystic fibrosis bronchiectasis (hereafter referred to as bronchiectasis) are distinct but related airway diseases: COPD is characterised by persistent and usually
Greulich T, James D. Chalmers
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Pregnancy and alpha-1 antitrypsin deficiency [PDF]
Postgraduate Medical Journal, 1987 Summary A 29 year old patient with alpha-1 antitrypsin deficiency and bullous emphysema became pregnant against the advice of her physicians. Despite a mid-trimester pneumothorax requiring the insertion of a chest tube, she went on to deliver a healthy child under epidural anaesthesia using a midforceps technique. Vaginal delivery is not
openaire +2 more sources
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
Case Reports in Surgery, 2017 We describe the rare instance of concomitant biliary atresia and alpha-1-antitrypsin deficiency and the first documented successful portoenterostomy in this scenario.
Andrew W. Wang +2 more
doaj +1 more source
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition caused by decreased plasma and tissue levels of alpha-1 antitrypsin (AAT) that can lead to serious lung and liver disease in children and adults. AATD patients face challenges such as under diagnosis, clinical variability, and limited treatment options for liver disease.
Meseeha M, Sankari A, Attia M.
europepmc +2 more sources
CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans [PDF]
, 2019 Due to its ease of genetic manipulation and transparency, Caenorhabditis elegans (C. elegans) has become a preferred model system to study gene function by microscopy.
Buland, Justin R +14 more
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BMEMat, EarlyView.The effects of NETs on regeneration of various diabetic tissues, and strategies targeting NETs for diabetes tissue regeneration. In the diabetic environment, NETs undergo complex metabolic and immune reprogramming, leading to dynamic changes in antibacterial and proinflammatory functions, and affecting regeneration of multiple systemic tissues.
Xinyi Jiang +6 more
wiley +1 more source
International Journal of Mycobacteriology, 2017 Tuberculosis (TB) is a major global health problem. Awareness of liver injury due to anti-TB therapy is vital because fulminant hepatic failure is a devastating and often fatal condition without liver transplantation.
Shahram Habibzadeh +3 more
doaj +1 more source