How Common is α -1-Antitrypsin Deficiency?

Discussion α-1-Antitrypsin Deficiency (A1AT) is a common single-gene mutation disease that is homozygous recessive. The normal allele is called M and the most common abnormal allele is Z. There are other alleles though. The gene codes for one of the primary protease inhibitors in the serum, thus those who are homozygous for the Z gene are sometimes referred to as “PIZZ” or “PIZ.” α-1-Antitrypsin is found in all body tissues but is especially important in the serum and lung. As noted it is one of the primary neutrophil protease inhibitors in the serum, and acts to neutralize these enzymes when they leak into the extracellular fluid during inflammation. The Z mutation causes the synthesis of an abnormal protein which is retained in the hepatocytes and accumulates instead of being secreted. This can cause chronic liver disease including cirrhosis and hepatic failure. The Z mutation also causes emphysema in young to middle-aged adults. The natural history of the disease process can be quite variable. Pediatric patients may be asymptomatic or present with cholestatic hepatitis, hepatomegaly, and nutrition/growth problems. Other important problems include chronic liver disease with cirrhosis and fibrosis (lifetime risk ~50% for ZZ patients). Hepatocellular carcinaoma risk is increased. The lungs are particularly sensitive to A1AT. Lung infections, asthma, and emphasema occur and smoking or second-hand smoke increases the risk of serious lung dis...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news

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This study was performed to explore the prognostic value of the MELD-XI score and modified MELD-XI score for patients with IE. A total of 858 patients with IE were consecutively enrolled and classified into two groups: MELD-XI ≤ 10 (n = 588) and MELD-XI>  10 (n = 270). Multivariate analysis was performed to determine risk factors independent of MELD-XI score. Higher MELD-XI score was associated with higher in-hospital mortality (15.6 vs. 4.8%,p 
Source: European Journal of Clinical Microbiology and Infectious Diseases - Category: Microbiology Source Type: research
Lara Muralt, Michael Furian, Mona Lichtblau, Sayaka S. Aeschbacher, Ross A. Clark, Bermet Estebesova, Ulan Sheraliev, Nuriddin Marazhapov, Batyr Osmonov, Maya Bisang, Stefanie Ulrich, Tsogyal D. Latshang, Silvia Ulrich, Talant M. Sooronbaev, Konrad E. Bloch
Source: Frontiers in Physiology - Category: Physiology Source Type: research
DR WILLIAM CHAPMAN (St Louis, MO): As we have heard in this report, the authors conducted a retrospective analysis of 176 cases of living donor liver transplantations performed at the University of Minnesota over a 19-year period. During this time, the authors performed 154 right-lobe donor hepatectomies and 22 left-lobe hepatectomies and compared complication rates as well as short- and long-term quality of life outcomes after this procedure.
Source: Journal of the American College of Surgeons - Category: Surgery Tags: Western surgical association article Source Type: research
What's your pain IQ? Find out with our midyear, 12-question assessment.   
Source: ConsultantLive - Category: Internal Medicine Authors: Tags: Pain Source Type: news
Respiratory Infections with Particular Emphasis on Influenza Virus Activity in Persons Over 14 Years of Age in the Epidemic Season 2016/2017 in Poland. Adv Exp Med Biol. 2018 Jun 20;: Authors: Kowalczyk D, Szymański K, Cieślak K, Hallmann-Szelińska E, Brydak LB Abstract Influenza viruses cause respiratory infections every epidemic season regardless of the patient's age. The aim of this study was to determine the activity of respiratory viruses in the epidemic season 2016/2017 in Poland, with particular emphasis on influenza viruses among people aged over 14. There were 2982 clinical samples tak...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
Source: FT.com - Drugs and Healthcare - Category: Pharmaceuticals Source Type: news
Conclusion: A strong clinical suspicion that translates into early vitrectomy plus intravitreal antifungal antibiotics leads to favorable visual and structural outcomes. A long wait till microbiological confirmation to institute antifungal therapy may result in poorer outcome.
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research
Purpose: To describe recurrence patterns and investigate candidate risk factors for recurrences of central serous chorioretinopathy. Methods: In 46 patients with acute central serous chorioretinopathy and follow-up>12 months after first episode resolution, parameters influencing recurrences were retrospectively evaluated using a frailty Cox proportional hazard survival model. Covariates included baseline systemic findings: age, gender, corticosteroid use, stress, shift work, sleep disorder, depression, allergy, cardiovascular risk; baseline optical coherence tomography findings: subfoveal choroidal thickness, pigme...
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research
(MedPage Today) -- News and commentary from the endocrinology world
Source: MedPage Today Pediatrics - Category: Pediatrics Source Type: news
As migrant children arrive at New York City hospitals without their parents or medical records, area doctors say they are doing whatever they can to ease their transition into the United States. “We try to give them more gifts and teddy bears because we know that they are coming with little to nothing upon entrance to the country,” says Dr. Daran Kaufman, director of pediatric emergency services at North Central Bronx Hospital. “You do see that some of these kids — not all of them, but some — are a little bit more withdrawn and sad, so showing that extra bit of kindness could make some differe...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized healthytime Immigration onetime Source Type: news
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