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      • KCI등재

        Leigh 증후군 환아에서의 안과적 이상 소견

        김교륭,변석호,강훈철,이준수,김흥동,이영목 대한소아청소년과학회 2010 Clinical and Experimental Pediatrics (CEP) Vol.53 No.2

        Purpose:Leigh syndrome is a typical type of mitochondrial disease. This study was conducted to analyze the types of ophthalmologic symptoms and results of funduscopy conducted in the ophthalmologic examination of patients with Leigh syndrome. Methods:Funduscopy was conducted on 24 subjects, who were chosen among those diagnosed as having mitochondrial respiratory chain complex defect and who were clinically suitable for the criteria of Leigh syndrome. Their clinical features, ophthalmologic symptoms, and ophthalmologic examination results were retrospectively analyzed. Results:Of the 24 patients with Leigh syndrome, 11 developed ophthalmologic symptoms and no abnormal finding was observed in 13. The most frequent abnormal finding was visual disturbance in 5 patients. Funduscopy revealed abnormal findings in 17 patients; retinal pigmentation was the most frequent abnormality and was seen in 9 patients. Conclusion:Funduscopy can be an important screening test to find ophthalmologic abnormalities among patients with mitochondrial disease (MD), including those patients whose ophthalmologic symptoms are inconspicuous. It is predicted that an improved screening test can be made in the future that will identify risk factors related to ophthalmologic symptoms. 목적:사립체 질환의 종류 중 대표적으로 알려진 Leigh 증후군 환아에서 안과적 증상의 종류와 실제 안과 진료에서 시행한 안저 검사 결과를 분석하였다. 방법:사립체 호흡 연쇄 복합체 결함을 진단받고 임상적으로 Leigh 증후군의 기준에 합당한 환아 중에서 안저 검사를 시행하였던 24명을 대상으로 하였다. 대상 환아 들의 임상 양상과 안과적 증상, 안저 검사 결과를 후향적으로 분석하였다. 결과:24명의 Leigh 증후군 환아 중 안과적 증상이 있는 경우가 11명(48%)이었고, 특이 증상이 발견되지 않았던 경우가 13명(54.2%)이었다. 이상 증상으로는 시력 이상이 5명(20.8%)로 가장 많았다. 안저 검사 결과에서 이상 소견이 17명(70.8%)에서 관찰되었으며, 다양한 이상 소견 중에서 망막의 색소침착이 9명(37.5%)로 가장 많았다. 결론:사립체 질환에서 안과적 증상이 뚜렷하지 않은 환자에서도 안저 검사가 안과적 이상을 찾아낼 수 있는 중요한 선별검사일 수 있으며, 앞으로 안과적 증상과 관련된 위험 요인을 발견한다면 좀더 상황에 맞는 선별적인 검사가 진행될 수 있을 것으로 판단된다.

      • KCI등재후보

        늦게 발현된 비전형적인 두개골 조기 유합증 1례

        김교륭(Kyo Ryung Kim),이준석(Lee Jun Seok),이준수(Joon Soo Lee) 대한소아신경학회 2009 대한소아신경학회지 Vol.17 No.2

        두개골 조기 유합증은 출생 전 혹은 생후 몇 개월 내에 두개관 또는 두개골 기저부의 두개 봉합선이 유합되어 두개골과 뇌조직(brain parenchyma)의 성장장애를 유발하는 선천성 기형으로 대부분 출생 직후 진단된다. 그러나 늦은 발현나이, 비전형적인 증상과 방사선학적 특징적 소견이 없어 진단이 애매한 증례가 보고 되었다. 저자들은 늦게 발현된 뇌압 상승 소견만 보이는 미세한 두개관 기형을 가진 미세 형태 두개골 조기봉합 환아에서 3차원 뇌 영상 CT 가 진단에 도움이 되었던 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다. Craniosynostosis is a congenital deformity causing disorder in the growth of the skull and brain parenchyma, resulting from the fusion of the cranial sutures of calvaria or basilar before birth or within a few months after birth. In most cases it is diagnosed just after birth. However, some cases of vague diagnoses were reported, which was due to the late onset age, and the absence of typical symptoms and typical radiological findings. We make a report of a case in which the three-dimensional CT was helpful in making a diagnosis of a patient with minimal forms of craniosynostosis having minimal cranial deformities revealing just late onset raised intracranial pressure, along with the investigation of medical literature.

      • KCI등재

        A case of hippocampal sclerosis diagnosed as cortical dysplasia due to preoperative brain MRI finding

        이준석,김교륭,김정태,최민정,이영목,김흥동,김동석,김태승,이준수 대한소아청소년과학회 2010 Clinical and Experimental Pediatrics (CEP) Vol.53 No.1

        Hippocampal sclerosis (HS) is one of the most common features of intractable temporal lobe epilepsy. Generally it can be identified through brain magnetic resonance imaging (MRI) with high degree of sensitivity and specificity. Typical brain MRI findings of HS are hippocampal atrophy with hyperintense signal confined to the lesion. On the other hand cortical dysplasia exhibits blurring of the gray-white matter junction and abnormal white matter signal intensity. We present a case where preoperative brain MRI strongly suggested the presence of diffuse cortical dysplasia in the left temporal lobe but postoperative pathology revealed the temporal lesion to be unremarkable except for hippocampal sclerosis.

      • KCI등재

        Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect

        이영목,채정현,이정훈,김교륭,변석호,강훈철,이준수,김흥동 대한소아청소년과학회 2010 Clinical and Experimental Pediatrics (CEP) Vol.53 No.12

        Purpose : Mitochondrial dysfunction can present with various symptoms depending on the organ it has affected. This research tried to analyze the ophthalmologic symptoms and ophthalmologic examination (OE) results in patients with mitochondrial disease (MD). Methods : Seventy-four patients diagnosed with mitochondrial respiratory chain complex defect with biochemical enzyme assay were included in the study. They were divided into 2 groups based on the OE results by funduscopy and were analyzed on the basis of their clinical features, biochemical test results, morphological analysis, and neuroimaging findings. Results : Thirty-seven (50%) of the 74 MD patients developed ophthalmologic symptoms. Abnormal findings were observed in 36 (48.6%) patients during an OE, and 16 (21.6%) of them had no ocular symptoms. Significantly higher rates of prematurity, clinical history of epilepsy or frequent apnea events, abnormal light microscopic findings in muscle pathology, diffuse cerebral atrophy in magnetic resonance imaging, and brainstem hyperintensity and lactate peaks in magnetic resonance spectroscopy were noted in the group with abnormal OE results. Conclusion : Although the ophthalmologic symptoms are not very remarkable in MD patients, an OE is required. When the risk factors mentioned above are observed, a more active approach should be taken in the OE because a higher frequency of ocular involvement can be expected.

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