Relationship Between Gpx1 Pro198leu Polymorphism and Susceptibility of Kashin-Beck Disease
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چکیده
منابع مشابه
Rare osteoarthritis: ochronosis and Kashin-Beck disease
normally retained in the body because of its high renal clearance; the absence of the HGD enzyme leads to abundant urinary excretion of homogentisic acid, which darkens slowly upon oxidation by prolonged exposure to air. The darkening is hastened by the addition of alkali to the urine and is reflected in the original term for homogentisic acid, alkapton, which refers to its avidity for alkali. ...
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We present a case of Kashin-Beck Disease primarily affecting the ankles. Our findings are consistent with other reports of the symptoms, incidence, and progression of these diseases. At this time, our patient has chosen conservative treatment, but is considering eventual osteoarticular allografts. According to the available literature, surgical treatment is the only option that will not only al...
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OBJECTIVE To identify and investigate the susceptibility genes of Kashin-Beck disease (KBD) in Chinese population. METHODS Whole-exome capturing and sequencing technology was used for the detection of genetic variations in 19 individuals from six families with high incidence of KBD. A total of 44 polymorphisms from 41 genes were genotyped from a total of 144 cases and 144 controls by using Ma...
متن کاملMass spectrometry-based proteomic analysis of Kashin-Beck disease.
Kashin-Beck disease (KBD) is a degenerative osteoarticular disease of unknown etiology. The management of KBD would benefit from the identification of the biomarkers related to this disease. In this study, mass spectrometry (MS)-based proteomic profiling was used to identify potential biomarkers of the disease. One hundred and sixteen serum samples of KBD cases and healthy controls were collect...
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OBJECTIVE We sought to determine whether genomic polymorphism in collagen IX genes (COL9A) was associated with Kashin-Beck disease (KBD). METHODS Twenty seven single nucleotide polymorphisms (SNPs) in COL9AI, COL9A2 and COL9A3 were genotyped in 274 KBD cases and 248 healthy controls using the Sequenom MassARRAY system. Associations between the COL9A polymorphism and KBD risk were detected usi...
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ژورنال
عنوان ژورنال: Value in Health
سال: 2015
ISSN: 1098-3015
DOI: 10.1016/j.jval.2015.09.2270