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RISS 인기검색어
- 검색키워드
- 저자 : 박경민(Gyoung Min Park) (검색결과 2 건)
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박경민(Gyoung Min Park),고정희(Jeung Hee Ko),민기식(Ki Sik Min) 대한소아신경학회 2009 대한소아신경학회지 Vol.17 No.2
저자들은 경련을 일으킨 후 시행한 뇌 자기공명영상에서 광범위한 뇌백질의 변화가 발견된 알렉산더 병 환자를 관찰하여 문헌 고찰과 함께 보고하는 바이다. 이 환자는 로젠탄 섬유의 형성에 관여하는 GFAP 유전자에 돌연변이가 있었고 이것은 알렉산더 병의 진단에 이용되었다. 첫 내원 당시 발달은 정상이었으나 3개월 후 시행한 발달 검사에서 퇴행하는 양상을 보였다. 환아는 항경련제로 경련을 조절하면서 신경운동치료 중으로 경과관찰이 필요하다. Alexander disease(AD) is a rare fatal demyelinating disorder, caused by the mutation of glial fibrillary acidic protein(GFAP) gene. It is characterized by progressive demyelination of central nervous system, and the accumulation of Rosenthal fibers within astrocytes. It is divided into three group: infantile, juvenile, and adult. The infantile type is most common, has onset during the first 2 years of life. It shows macrocephaly and psychomotor delay, spastic paraparesis, seizure, and feeding problems, and usually dies within the first decade. The severity of the pathological changes depend on the age of onset. Radiological study revealed white matter loss, usually with frontal predominance. It is diagnosed by DNA analysis. We present case of a 10-month-old male patient with AD. He had focal seizures, demyelination in the frontal lobe in MRI, and the presence of a K86E mutaion in the GFAP gene, involving the replacement of adenosine with guanine.
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박경민(Gyoung Min Park),민기식(Ki Sik Min),이혜란(Hae Ran Lee),조도준(Do Jun Cho),이대형(Dae Hyoung Lee),심은정(Eun Jung Shim),이소연(So Yeon Lee) 대한소아신경학회 2010 대한소아신경학회지 Vol.18 No.2
Purpose : The purpose of this study was to evaluate childhood seizures to provide appropriate medical services. Methods : We retrospectively reviewed the medical records of 221 chidren under 18 years of age with seizures (excluding febrile convulsion), who were admitted to the pediatric department of Sacred Heart Hospital, Hallym University from 2007 to 2009. Results : The male to female was 1.3:1 and the peak age was 6 years or less, accounting for 63%. The most common causes of seizures according to age were listed as follows; hypocalcemia (41%) and hypoxic ischemic encephalopathies (41%) in the neonatal period, benign convulsion with mild gastroenteritis (BCwMG, 47%) in preschool children (1month and 5 years), and unprovoked seizure (80%) more than 6 years. Electroencephalogram and neuroimaging abnormalities were found in the ratio from 20% and 14% respectively. Conclusion : Seizure is the most common neurologic disease in the childhood. The above results reveal that the causes of childhood seizures in the different age group are different. Therefore, the exact diagnosis of disease according to age is needed. We hope that further clinical studies on this topic will be performed.
KCI
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