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미토콘드리아 DNA T14484C 점돌연변이를 가진 한국인 레버유전시신경병증의 시기능 예후
김미정,박성섭,황정민.Mi Jeung Kim. MD. Sung Sup Park. MD. Jeong-Min Hwang. MD. 대한안과학회 2012 대한안과학회지 Vol.53 No.1
Purpose: In order to evaluate the clinical features and visual prognosis of Leber’s hereditary optic neuropathy (LHON) associated with T14484C mitochondrial DNA (mtDNA) mutation in Korean patients. Methods: To evaluate the clinical feature of Korean LHON patients with T14484C mtDNA mutation, a retrospective chart review was performed on 14 patients who visited our clinic with the chief complaint of decreased visual acuity. Results: All of the 14 patients experienced a significant decrease in visual acuity during the follow-up period. Eight of these patients (57%) showed an improvement in visual acuity of 20/50 or better in one or both eyes, and the remaining six patients (43%) showed visual acuities of 20/200 or worse in both eyes at the final follow-up. When the symptoms aggravated, ten patients (71%) showed central scotoma or cecocentral scotoma. Eleven of 12 patients (92%) who had undergone the Ishihara color vision test showed dyschromatopsia in the aggravated stage. Four patients had dyschromatopsia and three patients had central scotoma in both eyes even after visual recovery. There were no statistically significant differences in the age of onset or the nadir of visual acuity between the good visual recovery group and the non-recovery group (p > 0.05). Conclusions: Korean LHON patients with the T14484C mutation showed relatively good visual prognosis similar to those of the Caucasian or Japanese patients but with remaining dyschromatopsia or central scotoma after visual recovery. J Korean Ophthalmol Soc 2012;53(1):151-156
단일 기관에서 경험한 비후성 심근병증으로 발현된 영아형 폼페병
고정민,이영아,김기범,박성섭,송정한,Ko, Jung Min,Lee, Young Ah,Kim, Gi Beom,Park, Sung Sup,Song, Jung-Han 대한유전성대사질환학회 2012 대한유전성대사질환학회지 Vol.12 No.1
폼페병은 GAA 유전자의 돌연변이로 인해 acid ${\alpha}$-glucosidase (GAA) 효소가 완전 혹은 부분적으로 결핍되어 발생하는 드문 리소좀 축적질환의 하나이다. 전형적인 영아형 폼페병은 다기관을 침범하여 빠르게 진행하는 질환으로, 근긴장도 저하, 전신적인 근력 감퇴 및 비후성 심근병증이 주된 임상 양상이며 치료를 받지 않으면 보통 1-2세경에 사망에 이르게 된다. 재조합 GAA 효소 대체 요법은 이러한 영아형 폼페병 환자에서 병의 진행 경과를 늦추고 예후를 호전시키는데 효과적임이 이미 확인되었다. 본 연구에서는 단일 기관에서 경험한 비후성 심근병증으로 발현된 혈연 관계가 없는 세 명의 한국인 폼페병 환자의 임상 양상 및 유전학적 양상과 더불어 단기간의 효소 대체 요법 효과를 보고하고자 한다. 효소 대체 요법이 도입된 이래 영아형 폼페병의 자연 경과가 매우 호전된 바, 보다 조기에 진단하여 효소 대체 요법을 시작하는 것이 환자의 예후를 호전시키고 합병증을 최소화하는데 결정적일 것으로 생각된다. Pompe disease is a rare lysosomal glycogen storage disorder caused by a total or partial deficiency of the acid ${\alpha}$-glucosidase (GAA) enzyme due to the GAA gene mutations. The classic infantile form of Pompe disease is a rapidly progressive multi-organ disease with hypotonia, generalized muscle weakness, and hypertrophic cardiomyopathy, usually leading to death in the first 2 years of life. Enzyme replacement therapy with recombinant human GAA has been shown to be effective and subsequently yielded promising results. Here, we present clinical and genetic characteristics of three Korean non-classic infantile Pompe patients, and the short term efficacy of enzyme replacement therapy. Considering that enzyme replacement therapy can change the natural course of infantile Pompe disease, early diagnosis and early initiation of treatment is critical to improving patient outcomes.
Hb Dieppe에 의한 우성유전 베타 지중해빈혈 1례
최유경,이홍진,박원일,이경자,강성하,김지연,박성섭,Choi, You Kyoung,Lee, Hong Jin,Park, Won Il,Lee, Kyung Ja,Kang, Sung Ha,Kim, Ji Yeon,Park, Sung Sup 대한소아청소년과학회 2002 Clinical and Experimental Pediatrics (CEP) Vol.45 No.5
저자들은 상염색체 우성으로 유전되는 경한 저색소성 소구성 빈혈을 보이고 ${\beta}$ 유전자의 127번째 코돈 이 CAG에서 CGG로 치환되는 과오돌연변이로 인하여 매우 불안정한 베타 사슬 변이체를 만드는 우성유전 베타 지중해빈혈을 경험하였기에 문헌고찰과 함께 보고하는 바이다. ${\beta}$ thalassemias are usually transmitted as autosomal recessive traits. However, some dominant forms of ${\beta}$ thalassemia have been identified in individuals who have inherited a single copy of an abnormal ${\beta}$ globin gene. Thalassemia intermedia with mild anemia, jaundice, and splenomegaly has been observed in these patients. Electrophoresis has shown elevated Hemoglobin(Hb) $A_2$ and Hb F levels. In particular, there are inclusion bodies in the erythroid precursors and peripheral red blood cells after splenectomy. The molecular basis of these dominant ${\beta}$ thalassemias is heterogeneous. The authors studied the first Korean case of dominantly inherited ${\beta}$ thalassemia due to Hb Dieppe. Hb Dieppe is a missense mutation of ${\beta}$ codon $127(CAG{\rightarrow}CGG)Gln{\rightarrow}Arg$. The patient in this case was characterized by moderate anemia, hypochromia, microcytosis, elevated Hb $A_2$ levels, elevated Hb F levels and splenomegaly. The father of the patient also has the same disease. We report this case and review related literature.
가족력을 동반한 Stickler 증후군에서 COL2A1 유전자 돌연변이로 조기 진단한 신생아 1례
김호영 ( Ho Young Kim ),최민선 ( Min Seon Choi ),성문우 ( Moon Woo Seong ),박성섭 ( Sung Sup Park ),박상기 ( Sang Kee Park ) 대한주산의학회 2014 Perinatology Vol.25 No.2
Stickler syndrome is a progressive, hereditary disorder of connective tissue caused by mutations in different collagen genes. It is characterized by distinctive ocular, auditory, skeletal and oro-facial abnormalities and associated with long-term respiratory, nutritional, and developmental difficulties. Therefore, early detection and early treatment of Stickler syndrome is very important. We reported a case of Stickler syndrome in a newborn with family history and COL2A1 gene mutation.
양윤선(Yoon Sun Yang),조한익(Han Ik Cho),박성섭(Sung Sup Park),김진규(Jin Q Kim),김상인(Sang In Kim) 한국의학교육학회 1992 Korean journal of medical education Vol.4 No.2
To improve practical skills and problem-solving ablihty of the medical students, authrs introduced unique teaching program composed of 10 laboratory tests, essential for primary care physicians and ar ound 200 problem-solving and actual questionaires which can be met in situations of the clinical setting. The program was applied to the two-week clerkship for the senior class of Seoul National University College of Medicine in 1992. The problem-solving questionaires were revised three times in 1992, according to the results of analysis for new questionaires made by teachers and students. Around 5% of practical problem-oriented questionaires were made by students themselves. Favorable responses from the students were 99.1% for overall program and 96.1% for problem-solving questionaires. The long-term impact of this clerkship should be re-evaluated when students educated by this program become primary care physicians including interns or residents.
원저(原著) : t(15 : 17)과 ider(17)(q10)을 동반한 급성전골수구성백혈병 2예
황치대 ( Chi Dae Hwang ),김미나 ( Mee Na Kim ),이영준,박성섭 ( Sung Sup Park ),조현찬 ( Hyun Chan Cho ),김병국 ( Byoung Kook Kim ),조한익 ( Han Ik Cho ) 대한임상병리사협회 1995 임상혈액검사학회 발표자료집 Vol.2 No.1
저자들은 전형적인 급성전골수성백혈병에서 세포유전학적으로 i(17q-)가 나타나고, PML/RARA 재배열이 양성인 두 증례가 all-trans-retinoic acid 치료에 의해 완전관해가 유도됨을 경험하였기에 보고하는 바이다. 본 증례들에서 i(17q-)는 15q+와 동반되어 ider(17)(q10)으로 표기되는 것이 적절하다고 판단되며, all-trans-retinoic acid에 대한 감수성에 영향을 주지는 않았다. 본 증례들은 ider(17)(q10)이 동반된 급성전골수성백혈병에 대한 국내 최초의 보고로 생각되며, 향후 ider(17)(q10)가 임상적으로 어떤 의의를 갖는 지 규명되어야 하겠다. In acute promyelocytic leukemia(APL), t(15; 17)(q22;q21) is considered as making an essential role in the pathogenesis of APL through the rearrangement of the retinoic acid receptor alpha(RARA) gene with the PML gene. We reported two patients with typical APL, who showed 15q+ and i(17q-) in cytogenetic analysis of the bone marrow. In one of them mosaicism of typical t(15;17) and 15q+, i(17q-),+der(21)t(3;21) was seen and in the other 15q+ and i(17q-) were seen as sole abnormality. Both cases revealed PML/RARA rearrangement by RT-PCR and were induced of a complete remission hematologically, cytogenetically, and molecular genetically by all-trans-retinoic acid. These cases suggested that the i(17q-) was ider(17)(q10) which had occurred after the t(15;17) and did not interfere the sensitivity of APL to retinoic acid. This was first report of APL with 15q+ and ider(17)(q10) in Korea.