{alpha}1-Antitrypsin deficiency and chronic respiratory disorders

α1-antitrypsin deficiency (AATD) is a hereditary disorder associated with a risk of developing liver disease and pulmonary emphysema, and other chronic respiratory disorders (mainly asthma and bronchiectasis); Z variant is the commonest deficient variant of AAT. Determining AAT concentration in serum or plasma and identifying allelic variants by phenotyping or genotyping are fundamental in the diagnosis of AATD. Initial evaluation and annual follow-up measurement of lung function, including post-bronchodilator forced expiratory volume in 1 s and gas transfer inform on disease progression. Lung densitometry is the most sensitive measure of emphysema progression, but must not be use in the follow-up of patients in routine clinical practice. The exogenous administration of purified human serum-derived AAT is the only approved specific treatment for AATD in PiZZ. AAT augmentation therapy is not recommended in PiSZ, PiMZ or current smokers of any protein phenotype, or in patients with hepatic disease. Lung volume reduction and endoscopic bronchial valve placement are useful in selected patients, whereas the survival benefit of lung transplant is unclear. There are several new lines of research in AATD to improve the diagnosis and evaluation of the response to therapy and to develop genetic and regenerative therapies and other treatments.
Source: European Respiratory Review - Category: Respiratory Medicine Authors: Tags: COPD and smoking, Genetics Review Source Type: research

Related Links:

AbstractThe use of photobiomodulation therapy (PBMT) in the prevention of oral mucositis (OM) in paediatric care has increased. In this article, we report data of paediatric oncology/haematopoietic stem cell transplantation (HSCT) patients treated with PBMT to prevent chemotherapy-induced OM. A retrospective study was conducted at a Brazilian referral service. Prophylactic PBMT was used in children and adolescents ( ≤ 17 years) following the protocol: InGaAIP, 660 nm, 100 mW, 2 J, 3.33 W/cm2, and 20 s per point. Demographic data and OM severity scores were assessed. A regression model tested the association between OM w...
Source: Lasers in Medical Science - Category: Laser Surgery Source Type: research
CONCLUSIONS: The transplanted donor's lungs were not influenced by indium in the recipient's organs. Bilateral LT is thus an effective treatment option in severe indium lung disease cases. PMID: 32951288 [PubMed - in process]
Source: Journal of Occupational Health - Category: Occupational Health Tags: J Occup Health Source Type: research
This study has the potential to transform the diagnosis and treatment of allergic disorders.
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Authors: MacDonald-Ramos K, Michán L, Martínez-Ibarra A, Cerbón M Abstract Silymarin is obtained from the Milk thistle plant Silybum marianum and has been used over the centuries to treat principally liver disease, although it has also been studied for its beneficial effects in cardioprotection, neuroprotection, immune modulation, and cancer among others. Importantly, silymarin's active component silybin is a flavonolignan that exhibits different activities such as; scavenger, anti-oxidant, anti-inflammatory, and recently revealed, insulin-sensitizing properties which have been explored in clin...
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research
CONCLUSION: Type 4 collagen could predict the presence of significant and advanced fibrosis in NAFLD patients and it would be a useful tool in routine clinical practice. PMID: 32949785 [PubMed - as supplied by publisher]
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research
Abstract Pulmonary comorbidities and ASA physical status class III and IV can significantly increase the rate of major complications after ISC placement. Patients with an underlying pulmonary comorbidity or lung disease (chronic obstructive pulmonary disease, asthma, or obstructive sleep apnea) have a 2.2-fold increased risk of having any complication and a 2.4-fold increased risk of having a major pulmonary complication compared to those without pulmonary comorbidities. Patients with pulmonary comorbidities may benefit from alternative pain management strategies to avoid complications in the early postoperative p...
Source: The Orthopedic Clinics of North America - Category: Orthopaedics Authors: Tags: Orthop Clin North Am Source Type: research
EchoNous, a developer of novel ultrasounds, has found a way to leverage multiple critical clinical technologies within a single device. The result is KOSMOS, a handheld 3-in-1 device consisting of an ultrasound, electronic stethoscope, and an ECG, al...
Source: Medgadget - Category: Medical Devices Authors: Tags: Cardiology Critical Care Diagnostics Exclusive Informatics Medicine Public Health Source Type: blogs
Publication date: October 2020Source: American Journal of Kidney Diseases, Volume 76, Issue 4Author(s): Sarthak Virmani, William S. Asch
Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research
BACKGROUND: Falls experienced by patients undergoing blood and marrow transplantation or treatment with cellular immunotherapy (BMT-CI) may result in injury or death. An algorithm was developed using the patient fall circumstances identified in a chart ana...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news
Authors: Perciaccante A, Charlier P, Negri C, Coralli A, Appenzeller O, Bianucci R Abstract 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, A1AT causes 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) and it may be misdiagnosed as asthma. Because A1AT deficiency patients can show the same clinical feat...
Source: COPD: Journal of Chronic Obstructive Pulmonary Disease - Category: Respiratory Medicine Tags: COPD Source Type: research
More News: Alpha-1 Antitrypsin Deficiency | Asthma | Chronic Obstructive Pulmonary | Emphysema | Genetics | Liver | Liver Disease | Liver Transplant | Lung Transplant | Respiratory Medicine | Smokers | Transplant Surgery | Transplants | Urology & Nephrology