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son,bonnes affaires, Culture and Sport is a WAS (eczema and thrombocytopenia associated with immune deficiency syndrome) patients,louboutins, was Yanzhen Ming took the child to Hong Kong hospital diagnostic blood , was diagnosed with this disease, but in his contact with patients in the family,abercrombie paris, some parents have not reported until the Hong Kong Hospital, the children had already died - because diagnosed too late. Yanzhen Ming often caught scared there: If you do not succeed, "self-help",peuterey donna, children's blood samples to Hong Kong diagnosis, but rely on the hospital "piecemeal, stop-gap," the so-called symptomatic treatment, whether small, Culture and Sport can safely stand in front of him. On the "2013 Second China Forum rare disease",abercrombie 2015, the Shanghai Medical Association branch chairman rare disease specialist John Reading noted that because many doctors limited awareness of rare diseases, there is misdiagnosed 44% of rare diseases, 75% rare disease treatment is not standardized. "Every rare disease may have this experience, I do not know the medical process turn how many hospitals do a lot of pointless checks,outlet peuterey, eat a lot of drugs,abercrombie pas cher, a lot of money, but because the very low incidence of rare diseases clinical manifestations of complex and difficult screening and other causes of cognitive rate, diagnosis rate is not high,barbour femme, and even many doctors do not know. "People's Liberation Army General Hospital of Pediatrics physician, genetics Boshi Meng Yan of" well-off "Say. In the sub-master Peking University Department of Genetics opinion, sicker rare diseases and common diseases easy to distinguish,hogan rebel, and more rare diseases was buried in the "common", so rare disease patients are a group difficult to measure, identify "rare disease" long way to go. The reality is that at present the country only Shanghai, Beijing, Guangdong Medical Association set up a rare disease branch, but in the country,abercrombie et fitch, the research and drug development for rare diseases medicine should say still "blind".
2 years old, he was diagnosed with Gaucher disease, which is caused by a genetic defect of the lysosomal storage disease, fewer than 300 cases of patients nationwide now. "Before I was diagnosed with this disease,Giuseppe Zanotti Paris, when all doctors 'belly' in the treatment of disease." to "off," said. Beginning, due to liver function abnormalities have been "diagnosed" as hepatitis B,scarpe hogan outlet, no effect six months after treatment,abercrombie and fitch paris, the doctor could not say why,hollister 2015, then there may be someone around to remind schistosomiasis, mother and grandfather brought him back to Jiangxi specialized call home "schistosomiasis" expert, it was when the dog days of summer, just under the train Zouzheng Tao played on a prickly heat and high fever,nobis manteau, after timely rescue only saved a life. Until the summer of 1991, Beijing Children's Hospital, an experienced doctor after reading medical records, advised him to do a bone marrow test,abercrombie outlet, ultimately, Zouzheng Tao mother heard the doctors mouth firmly words - Gaucher disease, and there was Beijing registered patients only two cases. Other rare diseases before the diagnosis,peuterey outlet, the patient had "gone".
many grass-roots medical workers urgently improve the diagnosis and treatment of rare diseases, rare disease diagnosis such as metabolite analysis, gene analysis, enzymatic analysis or protein analysis, tissue biopsy, often rely on the lack of advanced instruments and laboratory equipment, the diagnosis of a rare disease which presents great challenge. In rare disease as "expensive" After twists and turns when the "rare disease" ferret out when and whether you can "kill" it? "Most rare diseases are due to genetic defects caused by hereditary diseases,veste barbour, the best cure is gene therapy, but the current gene therapy technique is still in the research phase, so the vast majority of genetic disease is no specific treatment of the condition, only can give some symptomatic treatment for the symptoms of the disease. "Meng Yan said.
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