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이재민,기은정,천해명,최문기,Lee, Jae-Min,Ki, Eun-Jung,Cheon, Hae-Myung,Choi, Moon-Gi 대한악안면성형재건외과학회 2013 Maxillofacial Plastic Reconstructive Surgery Vol.35 No.6
Frey syndrome is a disease characterized by abnormal sweating, facial redness, and rare pain by stimulation of taste sense on the limited area dominated by the auriculotemporal nerve and great auricular nerve. Although the developmental mechanism and histopathologic cause of Frey syndrome are still being debated, the most reliable theory is based on injury of the parathympathetic nerve connected to the auriculotemporal nerve continuing to abnormal regeneration. The other theory is that the sweat glands develop an increased sensitivity after degeneration of sympathetic fibers. Therapy of Frey syndrome includes drugs, radiographic treatment, and surgical treatment; however, in most cases, treatment is not satisfactory. This is a case report on a 24-year-old male patient with Frey syndrome caused by the fracture reduction with retromandibular approach after multiple facial traumas and spontaneous healing without any special treatment.
월슨병 환아에서 D-penicillamine 사용 중 조기 발병한 미세변화형 신증후군 1례
김기수,임재우,고경옥,김윤미,천은정,Kim Ki-Soo,Lim Jae-Woo,Ko Kyong-Og,Kim Yoon-Mee,Cheon Eun-Jung 대한소아신장학회 2004 Childhood kidney diseases Vol.8 No.2
월슨병은 구리 대사 이상으로 간, 뇌, 각막, 신 및 건혈구에 구리가 침착되어 생기는 상염색체 열성 유전성 질환이다. D-penicillamine이 주된 치료로서 10% 정도의 환자에서 가역적인 부작용이 발생 할 수 있다 저자는 3세된 여아에서 D-penicillamine치료 3주만에 미세변화형 신증후군이 발생하였고 투약 중단만으로 완전 관해된 증례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다. Wilson's disease is an autosomal recessive disorder characterized by degenerative changes in the brain, liver, and cornea. Treatment includes D-penicillamine, trientine, and zinc sulfate. D-penicillamine has been used frequently as first line therapy for Wilson's disease. However, nephrotoxicity can occur after D-penlcillamlne treatment. Among them membranous glomerulopathy is the most common histological abnormality but minimal change lesions have also been reported. Nephrotic syndrome is a late complication of D-penicillamine treatment but very rarely can occur within 2 months after treatment of D-penicillamine. We report the early development of minimal change nephrotic syn,frome in a 3-year-old'girl with Wilson's disease 3 weeks after initiation of D-penicillamine.
대뇌 피질의 이형성과 소뇌 위축 소견이 동반된 Seckel 증후군 1례
윤장원(Jang Won Yoon),임재우(Jae Woo Lim),천은정(Eun Jung Cheon),고경옥(Kyoung Og Ko),이영혁(Young Hyuk Lee) 대한소아신경학회 2007 대한소아신경학회지 Vol.15 No.1
Seckel 증후군은 드문 상염색체 열성 질환으로 새와 같은 머리 및 저신장과 소두증을 특징으로 한다. 정신지체를 동반하며 뇌 자기공명영상을 통해 중추 신경계의 이상을 확인할 수 있다. 저자들은 특징적인 외모와 저신장, 소두증, 지능 저하를 보여 Seckel 증후군으로 진단된 환아에서 뇌 자기공명영상을 통해 대뇌 피질의 이형성과 소뇌의 위축소견을 포함하는 중추신경계 이상을 확인하였으며 국내에서는 이에 대한 보고가 없어 문헌 고찰과 함께 보고하는 바이다. Seckel syndrome is a rare autosomal recessive disease. The characteristic features of Seckel syndrome include Intrauterine and postnatal growth deficiency, severe microcephaly, and a bird-like head. General appearance of our patient was characterized by Pre- and postnatal growth retardation, microcephaly, large eye, and a beaked nose. The patient had mental retardation with CNS anomalies. The CNS anomalies seen in the patient included cerebral dysgenesis and cerebellar atrophy. So, we report the case of CNS anomalies in Seckel syndrome.