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김담 ( Dam Kim ),정소담 ( So Dam Jung ),손창남 ( Chang Nam Son ),최지영 ( Ji Young Choi ),이승훈 ( Seung Hun Lee ),김이석 ( Yee Suk Kim ),성윤경 ( Yoon Kyoung Sung ) 대한내과학회 2014 대한내과학회지 Vol.87 No.2
Atypical femoral fractures are characterized by a subtrochanteric or diaphyseal location. Recent studies have suggested that long-term treatment with bisphosphonates might be associated with the occurrence of atypical femoral fractures. The present report describes a case involving a 60-year-old woman with left buttock pain that was unassociated with trauma. Her hip pain was initially considered to be a symptom of her underlying rheumatoid arthritis, but a plain radiography, bone scintigraphy, and magnetic resonance imaging revealed an insufficiency fracture in the lateral shaft of the left proximal femur. She had been treated with a bisphosphonate for 4.5 years because of a previous vertebral fracture. Her chronic, long-term rheumatoid arthritis and history of bisphosphonate administration were considered to be associated with the development of her atypical femoral fracture. (Korean J Med 2014;87:240-244)
신경학적 증상 없이 통풍성 관절염만으로 발현된 Lesch-Nyhan Syndrome 1례
여유미 ( Yoo Mi Yeo ),최은영 ( Eun Young Choi ),윤혜진 ( Hyae Jin Yoon ),정소담 ( So Dam Jung ),김담 ( Dam Kim ),이승훈 ( Seung Hun Lee ),주경빈 ( Kyung Bin Joo ),전재범 ( Jae Bum Jun ) 대한류마티스학회 2014 대한류마티스학회지 Vol.21 No.4
Deficiency of hypoxanthine-guanine phosphoribosyltrans-ferase is a purine nucleotide disorder and is the most common genetic cause of uric acid overproduction. This disease has a wide range of spectrum with regard to neurological features depending on the extent of the enzymatic deficiency. Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase, called Lesch-Nyhan syndrome, is presented with hyperuricemia and characteristic neurological manifestation and self-mutilation. Partial hypoxanthine-guanine phosphoribosyltransferase--deficient patients are presented with a various intensities of the aforementioned symptoms, from almost normal neurologic manifestation to a severe form along with hyperuricemia. We report a twenty-year-old man with complete hypoxanthine- guanine phosphoribosyltrans-ferase mutation and Lesch-Nyhan sydrome, who manifested gouty arthritis without neurologic symptom.