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About 638 results

ALLMedicine™ Alpha-1 Antitrypsin Deficiency Center

Research & Reviews  221 results

Association between circulating alpha-1 antitrypsin polymers and lung and liver disease.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8442448
Respiratory Research; Núñez A, Belmonte I et. al.

Sep 17th, 2021 - Alpha-1 antitrypsin deficiency (AATD) is considered one of the most common genetic diseases and is characterised by the misfolding and polymerisation of the alpha-1 antitrypsin (AAT) protein within hepatocytes. The relevance of circulating polymer...

Investigating the link between Alpha-1 Antitrypsin Deficiency and Abdominal Aortic Aneu...
https://doi.org/10.1016/j.avsg.2021.05.064
Annals of Vascular Surgery; Pini L, Peroni M et. al.

Aug 30th, 2021 - Alpha-1-Antitrypsin (AAT) is one of the major plasmatic protease inhibitors. In the last decade, an association between Alpha-1-Antitrypsin Deficiency (AATD) and Abdominal Aortic Aneurysms (AAA) has been hypothesized. Multiple factors may be invol...

Quantitative measurement of the histological features of alpha-1 antitrypsin deficiency...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8366994
PloS One; Marek G, Collinsworth A et. al.

Aug 17th, 2021 - Pathological mutations in Alpha-1 Antitrypsin (AAT) protein cause retention of toxic polymers in the hepatocyte endoplasmic reticulum. The risk for cirrhosis in AAT deficiency is likely directly related to retention of these polymers within the li...

Adenine base editing reduces misfolded protein accumulation and toxicity in alpha-1 ant...
https://doi.org/10.1016/j.ymthe.2021.06.021
Molecular Therapy : the Journal of the American Society O... Werder RB, Kaserman JE et. al.

Jul 5th, 2021 - Alpha-1 antitrypsin deficiency (AATD) is most commonly caused by the Z mutation, a single-base substitution that leads to AAT protein misfolding and associated liver and lung disease. In this study, we apply adenine base editors to correct the Z m...

Alpha-1 antitrypsin deficiency hidden in allegedly normal variants.
https://doi.org/10.1080/02770903.2021.1944186
The Journal of Asthma : Official Journal of the Associati... Suárez-Lorenzo I, Hernández-Brito E et. al.

Jun 22nd, 2021 - Rare variants of Alpha-1 antitrypsin (AAT) deficiency (AATD) have been described by the Spanish registry of patients with AATD. The great majority of these rare variants are Mmalton alleles and many recent case series of them have been identified ...

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Guidelines  2 results

ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries.
https://doi.org/10.1038/ajg.2016.517
The American Journal of Gastroenterology; Kwo PY, Cohen SM et. al.

Dec 21st, 2016 - Clinicians are required to assess abnormal liver chemistries on a daily basis. The most common liver chemistries ordered are serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase and bilirubin. These tests sh...

Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Th...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3373286
Canadian Respiratory Journal; Marciniuk DD, Hernandez P et. al.

Apr 27th, 2012 - Alpha-1 antitrypsin (A1AT) functions primarily to inhibit neutrophil elastase, and deficiency predisposes individuals to the development of chronic obstructive pulmonary disease (COPD). Severe A1AT deficiency occurs in one in 5000 to one in 5500 o...

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News  32 results

Point Mutation May Help Explain Different National COVID-19 Death Rates
https://www.medscape.com/viewarticle/938411

Oct 2nd, 2020 - NEW YORK (Reuters Health) - Ethnic differences in the frequencies of alpha-1 antitrypsin deficiency alleles might contribute to national differences in COVID-19 fatality rates, researchers report. "It was interesting to see how one point mutation ...

Point Mutation May Help Explain Different National COVID-19 Death Rates
https://www.staging.medscape.com/viewarticle/938411

Oct 2nd, 2020 - NEW YORK (Reuters Health) - Ethnic differences in the frequencies of alpha-1 antitrypsin deficiency alleles might contribute to national differences in COVID-19 fatality rates, researchers report. "It was interesting to see how one point mutation ...

Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency Diagnosis and Management
https://reference.medscape.com/viewarticle/936001_3

Sep 18th, 2020 - Answer 2/5 Which of the following conditions presents in a similar way to AADC deficiency? Your peers chose: Gaucher disease 0% Mucopolysaccharidosis 0% Alpha-1 antitrypsin deficiency 0% Tetrahydrobiopterin (BH4) deficiency 0% BH4 deficiency prese...

AATD Liver Disease Differs in Kids, Adults
https://www.medpagetoday.com/gastroenterology/generalhepatology/71318

Feb 22nd, 2018 - Action Points Clinical factors associated with the course of liver disease differed among children and adults with alpha-1 antitrypsin deficiency (AATD), according to a systematic review of the literature, where heterogeneity among studies preclud...

Lung transplant: Candidates for referral and the waiting list
https://www.mdedge.com/ccjm/article/153574/lung-transplant-candidates-referral-and-waiting-list/page/0/1

Dec 1st, 2017 - DISEASE-SPECIFIC INDICATIONS Chronic obstructive pulmonary disease COPD (both non- and alpha-1 antitrypsin deficiency) is the most common indication for lung transplant and accounts for almost 32% of lung transplants worldwide. 13 Patients should b.

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