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ALLMedicine™ Alpha-1 Antitrypsin Deficiency Center

Research & Reviews  238 results

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

Jun 21st, 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 ...

Living with the enemy: from protein-misfolding pathologies we know, to those we want to...
Ageing Research Reviews; Emwas AH, Alghrably M et. al.

Jun 13th, 2021 - Conformational diseases are caused by the aggregation of misfolded proteins. The risk for such pathologies develops years before clinical symptoms appear, and is higher in people with alpha-1 antitrypsin (AAT) polymorphisms. Thousands of people wi...

Transcriptomics of bronchoalveolar lavage cells identifies new molecular endotypes of s...
The European Respiratory Journal; Vukmirovic M, Yan X et. al.

Jun 4th, 2021 - Sarcoidosis is a multisystem granulomatous disease of unknown origin with a variable and often unpredictable course and pattern of organ involvement. In this study we sought to identify specific bronchoalveolar lavage (BAL) cell gene expression pa...

Alpha-1 Antitrypsin Deficiency-Associated Clinical Manifestations and Healthcare Resour...
COPD Herrera EM, Joseph C et. al.

May 26th, 2021 - Pulmonary events (PEs) associated with alpha-1 antitrypsin deficiency (AATD) can have a severe clinical course and increase healthcare resource use (HRU). However, AATD-associated HRU and healthcare costs have not been extensively described. This ...

Alpha-1 antitrypsin deficiency in the elderly: a case report.
Journal of Medical Case Reports; Annunziata A, Lanza M et. al.

May 10th, 2021 - Generally, alpha-1 antitrypsin deficiency (AATD) is suspected in young patients with pulmonary emphysema or chronic obstructive pulmonary disease (COPD). Patients often suffer from diagnostic gaps and are misdiagnosed with chronic obstructive pulm...

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Guidelines  2 results

ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries.
The American Journal of Gastroenterology; Kwo PY, Cohen SM et. al.

Dec 20th, 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...
Canadian Respiratory Journal; Marciniuk DD, Hernandez P et. al.

Apr 26th, 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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Clinicaltrials.gov  13 results

Alvelestat (MPH966) for the Treatment of ALpha-1 ANTitrypsin Deficiency

Mar 8th, 2020 - Alpha-1 antitrypsin deficiency (AATD) is the most common genetic cause of chronic obstructive pulmonary disease (COPD) and early-onset emphysema. AATD is characterized by low AAT levels; leading to excessive neutrophil elastase (NE) mediated lung ...

Alpha-1 Coded Testing(ACT) Study

Jan 28th, 2020 - Genetic testing for alpha-1 antitrypsin deficiency is sometimes delayed despite established testing indications. All genetic tests have risks and possible benefits. The ACT study evaluates the population demographics, reasons for testing, and outc...

International Study Evaluating the Safety and Efficacy of Inhaled, Human, Alpha-1 Antitrypsin (AAT) in Alpha-1 Antitrypsin Deficient Patients With Emphysema

Nov 28th, 2019 - Alpha-1 Antitrypsin Deficiency, also called Alpha-1-Proteinase Inhibitor (API) deficiency, is a genetic disorder characterized by the production of an abnormal amount of AAT protein and reduced circulating levels of this protein. Subjects with AAT...

Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin Deficiency

Jun 23rd, 2019 - The primary objective is to determine if Carbamazepine therapy in patients with severe liver disease due to Alpha-1-Antitrypsin Deficiency leads to a significant reduction in the hepatic accumulation of ATZ. The other objectives are: To determine ...

A Study of an Investigational Drug, ALN-AAT, in Healthy Adult Subjects and Patients With ZZ Type Alpha-1 Antitrypsin Deficiency Liver Disease

Jan 6th, 2019 - The purpose of this study is to evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Subcutaneously Administered ALN-AAT in Healthy Adult Subjects and Patients with ZZ Type Alpha-1 Antitrypsin Deficiency Liver Disease.

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News  29 results

Point Mutation May Help Explain Different National COVID-19 Death Rates

Oct 1st, 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

Oct 1st, 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

Sep 17th, 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

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

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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Patient Education  3 results see all →