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...
by Christian Sinclair (@ctsinclair)We used to publish a lot more article reviews here on Pallimed. Sometimes the analysis would be quite deep and sometimes we would just lump together a while bunch of snippets from key articles. I have been keeping an ever-growing list of articles I would love to write up for the site*, but never seemed to have the time to get to them, and then new ones would come out, that I would want to write about, but they too would just get added to the list. At the end of the year, I would look back on key articles for our field and be pretty bummed out that I never got anything published here about...
This study determined if there are observable patient-, tooth- and crack-level characteristics markedly associated with whether a tooth with an external crack also has an internal crack. METHODS: Two hundred nine dentists in The National Dental Practice-Based Research Network enrolled 2,858 adults with a vital permanent posterior tooth having at least 1 observed external crack. Presence and characteristics of internal cracks were recorded for 435 cracked teeth that were treated. Generalized estimating equations were used to identify significant (P
Stephen J. Goodswen, Paul J. Kennedy, John T. Ellis
BACKGROUND: The incidence of canine rabies cases in El Salvador has decreased in the last decade since the establishment of intense control programs, such as massive vaccination campaigns implemented by the Ministry of Health. Socioeconomic crises in recen...
In an intriguing study, black patients were far more likely to agree to certain health tests if they discussed them with a black male doctor.
[The Conversation Africa] A number of countries in sub-Saharan Africa - including Mali, Burkina Faso and Niger, collectively known as the meningitis belt - have been repeatedly devastated by overwhelming epidemics of meningitis.
[VOA] With the Democratic Republic of Congo facing its second major Ebola outbreak this year, emergency responders have worked to contain the spread of the disease. Scientists, meanwhile, are testing the effectiveness of experimental vaccines in the field.
LUNG cancer symptoms usually begin to show as the condition progresses, with no indications in the early stages. But when they do become apparent the most common sign is a cough, particularly one that won ’t go away or gets worse. There are seven symptoms of the disease all together to look out for.
ConclusionOur study revealed that early and multiple doses of systemic baicalein attenuated neuropathic pain and improved sciatic nerve function by inhibiting pro-inflammatory cytokine expression and attenuating the activation of astrocytes in the spinal cord.
There may be a strong connection between asthma and attention deficit hyperactivity disorder (ADHD) that makes people with one condition more likely to develop the other one, a recent study suggests.Reuters Health Information
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