Purpose : Several recent studies have shown a significant association of angiotensin converting enzyme(ACE) gene polymorphism with systemic lupus erythematosus(SLE). The association has not been consistently confirmed; moreover, the association of ACE genotype with SLE in children has never been evaluated. The aim of this study is to evaluate the association of ACE gene polymorphism with SLE in Korean children. Methods... |
Perinatal hepatitis B virus(HBV) infection may occur despite combined immunoprophylaxis with hepatitis B immunoglobulin and vaccines. Although the mechanism of perinatal prophylaxis still has been obscure, it could be due to : in utero infection; host factors as the personal immunological differences of HLA or cytokine gene; viral factors as a high maternal HBV-DNA level or the presence of surface... |
Methods : We enrolled 504 patients out of 547 patients, who were admitted to the Department of Pediatrics, Sung-Ae and Kwangmyung Sung-Ae General Hospital from November 1996 to October 2002. They were diagnosed as M. pneumoniae pneumonia by clinical characteristics and indirect particle agglutination test of M. pneumoniae. To classify into two groups, the group specific polymerase chain reaction amplification... |
Purpose : The incidence of neonatal hyperbilirubinemia is twice as high in East Asians as in whites and its metabolic basis has not been clearly explained. Recently, UDP-glucuronosyltransferase gene (UGT1A1) mutation was found to be a risk factor of neonatal hyperbilirubinemia in Japanese and Taiwanese Chinese. We studied whether neonatal hyperbilirubinemia is associated with mutation of UGT1A1, which is a... |
Purpose : To find out the myocardial protective effect of cardioxane for the myocardial damage by doxorubicin. Methods : Using Eighteen rabbits(2.0-3.2 kg), doxorubicin(30 mg/m2) was injected intravenously once a week in group I(12 rabbits) and cardioxane(600 mg/m2) was injected at 20-30 minutes before doxorubicin administration in group II(6 rabbits). After this, we operated on the rabbits when the total cumulative... |
Purpose : We investigated the hormonal control of OB gene expression and leptin secretion in cultured human visceral adipose tissue. Methods : Visceral adipose tissues were cultured for up to 48 hrs in modified Eagle's medium with varying concentration of hormones : Control(no hormone), bovine insulin(100 nM), Dexamethasone(DEX, 100 nM), growth hormone(GH, 40 ng/mL), insulin+DEX(100 nM each), insulin+DEX+GH(100 nM insulin... |
Purpose : Regeneration and repair after ischemic renal injury appears to be modulated by circulating or locally produced growth factors. This study examined the changes of serum insulin like growth factor(IGF-I) and renal expression of IGF-I and II, vascular endothelial growth factor(VEGF), transforming growth factor-β(TGF-β), and connective tissue growth factor(CTGF) during the active regeneration period after acute ischemic injury. Methods :... |
Goltz syndrome(focal dermal hypoplasia) is a rare disorder characterized by ectodermal and mesodermal dysplasia described in 1962 by Goltz. In Korea, one case of Goltz syndrome was reported in 1994. The inheritance mode is mostly X-linked dominant. Skin abnormality is the most common manifestation including hypoplasia of the dermis. Skeletal involvement such as syndactyly, polydactyly, scoliosis, kyphosis and spina bifida... |
Purpose : Gap junction intercellular communication(GJIC) is an important mechanism of the bystander effect in herpes simplex thymidine kinase/ganciclovir(HSVtk/GCV) gene therapy Therefore, we attempted to enhance the bystander effect in vitro by exogenous overexpressing connexin 37(Cx37) in cells to increase GJIC. Methods : NIH3T3 cells were transfected with the Cx37 and HSVtk gene or the HSVtk gene alone by the calcium... |
Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyl transferase(HPRT). We report here on a case of Lesch-Nyhan syndrome in a 1-year, 7-month-old male who presented with frequent vomiting, failure to thrive, and developmental delay. The diagnostic... |
Rhizomelic chondrodysplasia punctata(RCDP) is a rare autosomal recessive disorder clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a typical dysmorphic face, cataracts, and itchyosis. Patients with RCDP can be subdivided into three subgroups based on biochemical analysis and complementation studies. RCDP type I results from mutations in the PEX7 gene encoding the peroxisomal targeting signal type... |
Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from... |
The most common form of genetic nephrogenic diabetes insipidus(NDI), a rare inherited disorder, is congenital and is transmitted in an X-linked recessive mode. It is refractory to the antidiuretic effect of normal to moderately increased levels of plasma arginine vasopressin(AVP) but, in some cases, may respond to high levels of the hormone or its analogue, deamino-D-arginine vasopressin(DDAVP). X-linked congenital NDI... |
Purpose : Henoch-Schonlein purpura(HSP) nephritis has been reported to vary from 25 to 50% among HSP patients and is a common cause of chronic glomerulonephritis in children. In our study, we evaluated the distribution and the association of the Insertion/Deletion(I/D) polymorphism of angiotensin converting enzyme(ACE) gene with clinical manifestations, particularly proteinuria in children with HSP nephritis, compared with that in... |
Rett syndrome is an X-linked dominant, progressive neurodevelopmental disorder, with a prevalence estimated to be one in 10,000-15,000 girls, which is thought to be the second most common genetic causes of mental retardation in females after Down syndrome. Patients with classic Rett syndrome show an apparently normal neonatal period, followed by developmental regression and deceleration of head growth, accompanied by... |
Apert's syndrome(acrocephalosyndactyly) is a rare congenital anomaly that is characterized by the combination of premature fusion of multiple cranial sutures primarily involving the coronal suture and severe symmetrical syndactyly of fingers and toes. Some patients of this syndrome have various abnormalities of the central nervous system. We experienced a case of Apert's syndrome with craniofacial malformations, symmetric syndactyly, occipital encephalocele... |
Purpose : The tumor suppressor gene PTEN/MMAC1 is mutated in a variety of advanced and metastatic cancers, strongly suggesting that PTEN/MMAC1 alterations may be involved in tumor progression and the formation of metastases. However, the roles of PTEN in tumor growth and metastasis and its functional mechanisms are not fully understood. We evaluated the tumor suppressor function of PTEN/MMAC1 gene... |
Purpose : The object of this study is to determine whether QT interval variability in patients with postoperative tetralogy of Fallot increases. Methods : We enrolled 41 patients who had total correction of tetralogy of Fallot, and 31 healthy controls. They were 6-12 years old. Patients were divided into 2 groups : arrhythmia-positive patients(n=10) who had ventricular premature contractions more than... |
Streptococcal toxic shock like syndrome is a rapidly progressive and a fatal disease like staphylococcal toxic shock syndrome. In spite of the wide expansion and development of potent antibiotics, streptococcal infection still threatens human being. Recently we experienced a patient with toxic shock like syndrome who was suffered from fever and neck pain with rapid progression to hypotension and multiorgan... |
Purpose : In this study we tried to look at the spreading, duration of colonization, and acquisition of new streptococci which were obtained in one geographical area, as well as the bacteriologic and molecular epidemiology of normal school children carrying group A streptococci and their clonal relationship through the combined application of the serotype of T antigen and Pulsed Field... |
Purpose : The identification of antigenic specificity of Streptococcus pyogenes using T serotyping is important to understand biologic characteristics of microorganisms. We would like to disover the association of the occurrence of predominant T type, with possible outbreak of erythromycin resistant Streptococcus pyogenes in this country, which has been documented since the late 1990s. Methods : Throat swab cultures were taken... |
Agenesis of corpus callosum occurs sporadically and may be transmitted as sex-linked, or autosomal-dominant or recessive traits. It has been associated with different syndromes. Clinical pictures vary from severe intellectual and neurologic abnormalities to asymptomatic and normaly intelligent cases. Agenesis of corpus callosum may occur alone, but it is more frequently associated with a high incidence of other anomalies. We... |
Apert syndrome is an uncommon congenital disorder characterized by malformation of the skull in association with symmetrical syndactyly of both hands and feet. This syndrome is autosomal dominant. The original description was presented by Apert in 1906. Since then more than 200 cases have been reported in the world. Recently, we experienced a case of newhorn male infant with congenital... |
Purpose : This prospective pilot study is a part of the Korean NIH’s effort to characterize congenital anomalies and genetic disorders in Korea and to establish a National Genetic Database. Methods : This population-based study was conducted at all hospitals that deliver in the province of Suwon; a total of 39 hospitals from May 1, 1997 to April 30, 1999 for... |
Purpose : We performed the study to determine the clinical characteristics and natural history of Gaucher disease with CNS involvement in Korea as well as to determine whether gene analysis would be helpful in the identification of neuronopathic Gaucher disease. Methods : We described the initial symptom, clinical manifestations, age of onset, clinical neurophysiologic findings and brain MRI findings from the... |
Purpose : This prospective study was performed to evaluate the immunogenecity and safety of MMR vaccine(Triviraten Berna¢c) in Korea children. Methods : Seventy-three infants aged between 12 to 18 months were recruited from several university hospitals between December 1995 to June 1996. MMR vaccine(Triviraten Berna¢c) was administrered and blood was obtained before and 6-10 weeks after vaccination. IgG antibodies against measles,... |
Purpose : Extrahepatic biliary atresia is the most common indication for liver transplantation in children, but the etiology of this disorders remains unknown. It would be very signficant to identify genes that are specifically expressed in pathologic liver tissue of biliary atresia and analyze the pattern of expression in those genes. Methods : We made dot blot panels consisting of 1,730 different EST(expressed sequence... |
Purpose : Ewing's sarcoma is characterized by accompanying specific chromosome translocations. In the present study, we report ETV1, the third member of the human ETS family that is implicated in Ewing's sarcoma by reciprocal translocation (7;22)(p22;q12). Methods : Primarily, cDNA library made from the Ewing's sarcoma cell line accompanying the t(7;22)(p22;q12) was screened using the 5' portion of EWS(including the... |
MELAS(mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome is a major subgroup of mitochondrial myopathy. Recent advances in molecular genetics revealed specific mutations in mitochondrial DNA which cause MELAS. We described here clinical and molecular genetic findings of sister and brother with MELAS syndrome. For molecular genetic studies, DNAs from peripheral blood nucleated cells were used. And the substitution... |
Crouzon syndrome, an autosomal dominant disorder, has characteristic features of craniosynostosis, hypertelorism, exophthalmos, maxillary hypoplasia and relative mandibular prognathism. Mutations of fibroblast growth factor receptor 2(FGFR2) gene are associated with craniosynostotic conditions, such as Crouzon syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome, Apert syndrome and Beare-Stevenson cutis gyrata. We found one child with common morphological features of Crouzon syndrome. Interestingly, she... |