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...
We describe the most highly recommended generic and disease-specific PRO tools in SCD and discuss the challenges of incorporating them in clinical practice. EXPERT OPINION: PRO measures are essential to incorporate into SCD clinical trials either as primary or secondary outcomes. The use of PRO measures in SCD facilitates a patient-centered approach, which is likely to lead to improved outcomes. Significant challenges remain in adapting PRO tools to routine clinical use and in developing countries. PMID: 33034214 [PubMed - as supplied by publisher]
CONCLUSIONS: Xyloglucan/gelose plus ORS was effective and safe in treating acute diarrhea in children. PMID: 33028102 [PubMed - as supplied by publisher]
Currently in fellowship doing bread/butter procedures (MBB, epidurals, PNB, few SCS/PNS trials, etc.) and just interviewed at a private practice spot where they do a lot of procedures that I will have not done any training in prior to graduating (e.g. IT pump, SI fusion, Vertiflex, Kypho, MILD, Discectomy, lots of SCS/PNS trials etc) and significant amount of "OR pain procedures" at a very busy practice seeing 30-40 pts/day - how many of you are commonly performing these procedures and are... private practice concern
Boosting the sensitivity of in vitroβ-lactam allergy diagnostic tests. Chem Commun (Camb). 2020 Oct 14;56(80):11973-11976 Authors: Peña-Mendizabal E, Morais S, Maquieira Á Abstract The synthesis of structurally new haptens and the development of suitable antigens are essential for boosting the sensitivity of drug allergy diagnostic testing. Unprecedented structural antigens for benzylpenicillin and amoxicillin are characterised and evaluated in a cohort of 70 subjects with a turnkey solution based on consumer electronics. PMID: 33033809 [PubMed - in process]
Publication date: October 2020Source: Brain, Behavior, and Immunity, Volume 89Author(s): Xiaoqin Liu, Trine Munk-Olsen, Clara Albiñana, Bjarni J. Vilhjálmsson, Emil M. Pedersen, Vivi Schlünssen, Marie Bækvad-Hansen, Jonas Bybjerg-Grauholm, Merete Nordentoft, Anders D. Børglum, Thomas Werge, David M. Hougaard, Preben B. Mortensen, Esben Agerbo
Publication date: October 2020Source: Brain, Behavior, and Immunity, Volume 89Author(s): Fernando Lopes, Fernando A. Vicentini, Nina L. Cluny, Alexander J. Mathews, Benjamin H. Lee, Wagdi A. Almishri, Lateece Griffin, William Gonçalves, Vanessa Pinho, Derek M. McKay, Simon A. Hirota, Mark G. Swain, Quentin J. Pittman, Keith A. Sharkey
BEST supplements to relieve joint pain: Is your arthritis playing up? The wetter and colder months could partially be to blame. These two pills may help.
Authors: Kim H, Lim YM, Lee EJ, Kim HW, Ahn HS, Kim KK PMID: 33029979 [PubMed]
CONCLUSIONS: The SMs in PWIBDs and a craniotomy performed immediately before starting the process of determining brain death seem to be related to lengthening the TT-BD. PMID: 33029974 [PubMed]
CONCLUSIONS: More than half of the iIONP patients had an enhanced oculomotor nerve in MRI. A few of them also had elevated CSF IgG synthesis rate, but no further evidence for inflammation was found. The administration of steroids seemed to have no benefit other than increasing the blood glucose level. PMID: 33029972 [PubMed]
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