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Angelo Mario DiGeorge [1] (April 15, 1921 – October 11, 2009) was an American physician and pediatric endocrinologist from Philadelphia who pioneered the research on the autosomal dominant immunodeficiency now commonly referred to as DiGeorge syndrome.
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems , specific facial features, frequent infections, developmental disability , intellectual disability and cleft palate . [ 7 ]
22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body's 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430).
Alright as a quick recap, DiGeorge syndrome or 22q11.2 deletion syndrome, is a genetic condition where the q11.2 portion of DNA on chromosome 22 is deleted, which can cause developmental issues like thymic and parathyroid hypoplasia, congenital heart defects, facial abnormalities, mental health conditions, and others.
Thymus transplantation is used to treat infants with DiGeorge syndrome, which results in an absent or hypoplastic thymus, in turn causing problems with the immune system's T-cell mediated response. It is used in people with complete DiGeorge anomaly, which are entirely athymic. This subgroup represents less than 1% of DiGeorge syndrome patients ...
Toby Fischer lives in South Dakota, where just 27 doctors are certified to prescribe buprenorphine -- a medication that blunts the symptoms of withdrawal from heroin and opioid painkillers. A Huffington Post analysis of government data found nearly half of all counties in America don't have such a certified physician. So every month, Fischer and his mother drive to Colorado to pick up their ...
22q11 microduplication syndrome [3] is the opposite of the 22q11 deletion syndrome; in this condition, a band of q.11.2 section of chromosome 22 is duplicated. Individuals carrying this deficiency are relatively "normal", as in they do not possess any major birth defects or major medical illnesses.
Doctors recommend tapering off the medication only with the greatest of caution. The process can take years given that addiction is a chronic disease and effective therapy can be a long, grueling affair. Doctors and researchers often compare addiction from a medical perspective to diabetes.