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t would have saved my best friend's life, more than likely. She died at the age of 29. She weighed over 500 pounds. She was afraid to get the surgery. I believe she would be alive if she would have gotten the surgery, because she would have been under a doctor's care instead of sitting at home in front of her tv, isolated and alone. I got the surgery and it saved my life.
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The causative genes for these Mendelian PTDs still have to be identified and their detection represents a challenge to address with innovative techniques such as WES. Late onset PTD is about 10 times more frequent than early onset PTD with an estimated prevalence of 30/100,000 worldwide . The disease usually begins in adulthood and shows limited tendency to spread or generalize. The majority of late onset PTD are sporadic, yet a positive family history is present in up to 25% of first degree relatives, supporting the existence of genetic factors that could influence PTD susceptibility Defazio et al. , 2012. It is hypothesized that most cases have a multifactorial basis, in which common susceptibility genes interplay with individual genetic and environmental risk factors to reach a threshold of disease Defazio et al. , 2007. In order to show an association between specific genetic variants and focal dystonias, many case control studies have been performed, focusing on candidate genes such as those related to dopaminergic transmission, brain plasticity, and genes causative of Mendelian PTDs; overall, these studies have yielded contradictory outcomes. The CT/GT/GAn polymorphism in the dopamine D5 receptor gene has been associated with adult onset focal dystonia in patients of European ancestry, but not in other cohorts. Similarly, a functional polymorphism p. V66M, rs6265 in the brain derived neurotrophic factor BDNF gene and variants in the THAP1 gene have been associated to PTD risk, but with inconsistent results.
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Q. Khan was running amok, that he was an addict of sorts, unable anymore to find sufficient gratification from his activities in Pakistan, and that unbeknownst to either the Pakistani authorities or the American government he was going rogue, selling his nuclear secrets abroad. There are elements of truth in all that, as there are in most fiction. In Lahore I went to see a former finance minister named Mubashir Hasan, an engineer by training, who in his later years has become a pacifist and one of the rare critics of Pakistan's nuclear weapons program. Hasan is a thin man with a gentle demeanor. On both days we met, at his ramshackle house in a leafy district of the city, he was dressed like a saint, entirely in white. We discussed the funding of Khan's laboratory over the years, and in general terms the extent to which Saudi Arabia and other countries had contributed to it. He said, "But if you want to find out exactly where the money came from, from what country, and in return for which state secrets, or how the accounts were kept, how much was taken out by which crooksall that will remain secret for a long time. There is really no way of knowing. " I asked him how Khan could have gotten away with so much for so long. He said, "It is a cultural trait.