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길홍량,이영하,정용헌 충남대학교 의과대학 지역사회의학연구소 2000 충남의대잡지 Vol.27 No.2
To investigate molecular genetic characteristics of CATCH 22 syndrome, we studied the correlation between phenotype and target gene screening and mode of inheritance using FISH (fluroscence in situ hybridization) and STRP(short tandem-repeated polymorphism). Hemizygosity for a region of 22q11.2 was found in 21 CATCH 22 patients. 2 of 19 family (11%) had familial CATCH 22 syndrome and affected 2 parents were mothers. No familial cases were found among CATCH 22 syndrome with absent thymus/ DiGeorge syndrome. The conotruncai cardiac anomalies such as Tetralogy of Fallot and vascular anomalies were common among CATCH 22 syndrome. Both the STRP maker screening(D22S941) and FISH(D22S75) were efficient and useful for the detection of chromosome 22q11 deletion and the evaluation of parent of origin but show some heterogeniety. Markers D22S75 and D22S941 appear to be consistently hemizygous in patients with deletions, so it was very useful in screening the patients with the conotrucal cardiac anomalies.
길홍량 대한소아청소년과학회 2007 Clinical and Experimental Pediatrics (CEP) Vol.50 No.11
Myocarditis represent an important condition encountered by general pediatricians & general practitioners. Its presentation is varied, and therefore a high index of suspicion must be maintained when the possibility of myocarditis is raised. A progression from viral myocarditis to dilated cardiomyopathy has long been hypothesized. Treatment is initially aimed at achieving hemodynamic stability and is largely supportive. There is currently little evidence to support the immunomodulatory or specific antiviral therapies. Pediatric cardiomyopathies are a heterogeneous group of disorders with diverse genetic, infectious, mitochodrial and metabolic etiologies. The timing and severity of presentation vary according to cardiomyopathy type as well as genetic and ethnic factors. The behavior of specific cardiomyopathies can be predicted by morphological and functional attributes, as well as underlying patient characteristics.
Anthracycline으로 치료한 소아암환아에서 Dobutamine 부하 심초음파를 이용한 심근기능의 평가
길홍량 충남대학교 의과대학 지역사회의학연구소 1994 충남의대잡지 Vol.21 No.2
Doxorubicin is a effective anticancer agent known to cause acute and chronic cardiotoxicity. To develop a more sensitive echocardiographic screening test for cardiac damage, a preliminary study was performed using dobutamine to differnentiate asymtomatic childhood patient treating with doxorubicin from healthy control subject. Echocardiographic data from the experimental group of 8 patients (mean age 7.9±4.8 years) treated from 0.2 to 3.2 year(meann 1.7year) before study with 250 to 502mg/㎡ of doxorubicin (mean 319) were compared with echocardiographic data from 8 normal age-matched control subjects, Graded dobutamin infusions of 2.5 and 5㎍/kg per min were administrated. Echocardiographic doppler studies were performed before infusion and after 15min of infusion at each rate. The most important findings were that compared with values in control subject, end-systolic left ventricular posterior wall dimension and percent of left ventricular posterior wall thickening in doxorubicin treated patients were decreased at baseline study and these findings were more clearly documented with dobutamine stress. End systolic left ventricular posterior wall dimension at baseline for the doxorubicin treated patients was 12±0.7mm vs 13.1±1.5mm for control (p<0.05). End-systolic left ventricular posterior wall dimension at the 5㎍/kg per min dobutamin infusion for the doxorubicin treated patients was 14.5±1.2mm vs 19.3±2.6 for control subjects(p <0.01). Percent left ventricualr posterior wall thickening at baseline study for the doxorubicine treated patient was 87±11% vs 97±13% for the control group(p<0.05). Percent left ventricular posterior wall thickening at the 5㎍/kg per min dohutamine infusion for the doxorubicin group was 113±11% vs 185±20% for the control group. These results suggest that evaluation of left ventricualr systolic function such as end-systolic posterior wall dimension and posterior wall thickening during isotropic stimulation provides a sensitive technique for exam ng the cardiac status of asymtomatic doxorubicine-treating patients.
CATCH 22 증후군의 22q11 미세결실 및 임상-유전적 상관성에 관한 연구
길홍량,이영하,정용현 대한소아청소년과학회 2000 Clinical and Experimental Pediatrics (CEP) Vol.43 No.12
목 적 : CATCH 22 환자와 그 가족들을 대상으로 이형증성 표현형의 분석을 통하여 인식 가능한 증후군의 기준을 제시하고, 높은 다형성을 보이는 STRP 표지자를 이용한 이종접합성의 소실을 가족단위로 검색함으로써 한국인 고유의 새로운 다형성 유전적 표지자 개발의 기초 자료로 활용함은 물론 임상-유전학적 상관관계의 확인을 통해 유전상담에 도움을 주고자 하였다.방 법 : 선천성 심질환과 구개열을 주소로 충남대학교병원에 내원한 환자 중 CATCH 22 환자와 그 가족들을 대상으로 임상 표현형 분석과 STRP 표지자를 이용한 이종접합성의 소실을 가족단위로 검색하였다. Purpose : Deletion of chromosome 22q11 is associated with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome. This study was performed to determine the criteria of clinical phenotype as recognizable syndrome and to research the loss of heterozygosity in CATCH 22 patients and their family. Methods : An evaluation of the clinical and genetic profiles of 30 persons of CATCH 22 syndrome or their family referred with a diagnosis of either congenital heart disease or cleft palate was undertaken. The deletions of 22q11 were analyzed using the fluorescences in situ hybridization(N25, Oncor) and short tandem-repeat polymorphic makers(STRP, D22S941). Results : The dysmorphic features of CATCH 22 showed considerable overlap and intrafamilial difference was common. The familial cases of CATCH 22 were transmitted maternally as autosomal dominant. The target gene study using the STRP maker(D22S941) in these series showed good clinico-genetic correlation but some heterogeneity. Conclusion : Although 22q11 deletion was large in size and high variable in polymorphic markers, extensive evaluation clinically as well as genetically will be necessary for subgrouping of CATCH 22 syndrome due to good clinicogenetic correlation. Furthermore, we also suggest the development of new polymorphic markers to research the unknown characteristics of polymorphic markers in Korean patients with CATCH 22 syndrome.