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...
CONCLUSIONS: There is a need to improve respiratory infectious disease procedures in our study hospitals, especially in outpatient and emergency departments. PMID: 32459978 [PubMed - as supplied by publisher]
The objective of this narrative review is to familiarize primary care clinicians with the variety of acute treatment options available in the United States today based on clinical trial findings, meta-analyses, evidence-based guidelines, and professional society consensus statements. PMID: 32459561 [PubMed - as supplied by publisher]
Publication date: Available online 28 May 2020Source: Veterinary MicrobiologyAuthor(s): Yuying Han, Libao Xie, Mengqi Yuan, Yuteng Ma, Huimin Sun, Yuan Sun, Yongfeng Li, Hua-Ji Qiu
CONCLUSIONS: High-intensity strength training is strongly associated with lower levels of MP in arm-hand, neck-shoulder, and back, whereas no association was found with frequency or lower intensities. PMID: 32464597 [PubMed - as supplied by publisher]
PMID: 32463632 [PubMed - as supplied by publisher]
PMID: 32463634 [PubMed - as supplied by publisher]
Publication date: September 2020Source: Advances in Medical Sciences, Volume 65, Issue 2Author(s): Krzysztof Kowal, Agnieszka Pampuch, Grzegorz Siergiejko, Zenon Siergiejko, Ewa Swiebocka, Caleb R. Schlachter, Maksymilian Chruszcz, Alain Jacquet
New J. Chem., 2020, Accepted Manuscript DOI: 10.1039/D0NJ01836H, PaperMing Yan, Yilin Wu Inspired from the surface self-assembly modification technique of dopamine, herein, the polydopamine (pDA)-modified nanocomposite were successfully obtained on the surfaces of TiO2 (pDA@TiO2). The key design of the as-reported ibuprofen... The content of this RSS Feed (c) The Royal Society of Chemistry
This study aimed to confirm whether anosmia and dysgeusia are specific symptoms among those who tested positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). METHODS: We conducted an age-matched case-control study in the Eastern Townships region of Quebec between Mar. 10 and Mar. 23, 2020. We included adults (age ≥ 18 yr) who tested positive for SARS-CoV-2 by reverse transcription polymerase chain reaction. Cases were matched (1:1) according to 5-year age groups with control patents selected randomly from among all patients who tested negative for SARS-CoV-2 during the same period. Demographic an...
The chief executive of AstraZeneca, which is developing a leading coronavirus vaccine with Oxford University, said it is too early to deliberately expose vaccine trial participants to the pathogen, but it may become an option if ongoing trials hit a snag.Reuters Health Information
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