Fragile X syndrome is one of the most common forms of inherited mental retardation and is caused by the expansion of the CGG trinucleotide repeats in the FMR-1 gene. This study was aimed to facilitate the molecular screening of fragile X syndrome in Korean children with mental retardation of unknown etiology. The subjects were tested by Expand Long Template PCR system in the presence of 7-deaza-dGTP, and then by Southern blot analysis. The PCR method provided rapid and reliable results for the identification of fragile X negative and positive patients. One hundred one mentally retarded children (78 males and 23 females) were screened by PCR amplification, which detected only one abnormal sample. The PCR-positive case was confirmed by the CGG repeat expansion on Southern blot analysis with a positive cytogenetic result. In conclusion, Expand Long Template PCR may be used as the first screening test for detecting the fragile X syndrome.
Adolescence ; Child ; Child, Preschool ; *Disabled Children ; Female ; Fragile X Syndrome/*genetics ; Genetic Screening ; Human ; Infant ; Korea ; Male ; Mental Retardation/*genetics ; Polymerase Chain Reaction ; Trinucleotide Repeats ; *X Chromosome

Sparganum is a plerocercoid of pseudophyllidean tapeworms, Diphyllobothrium or Spirometra spp. Human sparganosis is endemic mainly in East and Southeast Asian countries where the custom of eating raw snake or frog meat, or poulticing with snake's skin exists. From January 1995 to November 1999, an epidemiological survey was undertaken to evaluate the serum levels of anti-sparganum specific IgG antibodies in Whachon-gun residents, Korea. An enzyme- linked immunosorbent assay (ELISA) and immunoblot analysis of the sera from 316 subjects were used. In addition, a stool examination from 416 inhabitants and questionnaires regarding the consumption of raw meat were given. Out of 416 inhabitants examined coprologically, one was infected with Clonorchis sinensis and two were infected with Metagonimus spp. The sera from 36 inhabitants (11.4 %) showed a positive reaction to the sparganum antigen. Out of these 36 inhabitants, the sera from 25 people were examined 7, 19, and 50 months later. The sera were found to still show positive reactions without any remarkable changes of anti-sparganum specific antibody titers except for one. An analysis of the questionnaires suggested that a history of eating of raw snakes or frogs was important risk factor for clinical or covert sparganosis (odd ratio=15.6 and 3.1, respectively).
Adolescence ; Adult ; Aged ; Aged, 80 and over ; Animal ; Antibodies, Helminth/*blood ; Child ; Child, Preschool ; Enzyme-Linked Immunosorbent Assay ; Female ; Human ; Immunoblotting ; Infant ; Infant, Newborn ; Korea/epidemiology ; Male ; Middle Age ; Seroepidemiologic Studies ; Sparganum/*immunology

The prevalence of Behcet's disease is the highest in the East Asian and the Medi-terranean countries. Behcet's disease is also distributed in the Asian countries, but the nationwide survey has not been performed in Korea yet. The Korean Study Group for Behcet's Disease, founded in 1999, conducted a multicenter, retrospective survey on epidemiologic and clinical features of the patients with Behcet's disease from 20 hospitals around the nation from 1997 to 1999. Of 3,497 patients, 1,527 were classified into complete or incomplete type of Behcet's disease according to the revised Shimizu's classification. The sex ratio was 1:1.75 with the female predominance. Geographical distribution showed the highest frequency in Seoul (38.5%). Clinically, 98.8% had oral ulcers, 83.2% had genital ulcers, 84.3% had skin lesions and 50.9% had ocular lesions. As for the minor clinical manifestations, articular symptoms were the most frequent. The pathergy test showed positive in 15.4% of patients and revealed a higher positive rate in males (20.2%) than in females (12.7%). In conclusion, we performed the first multicenter study on Behcet's disease in Korea and revealed the female predominance, higher frequency of ocular lesions, and lower positivity of pathergy test in the patients.
Adolescence ; Adult ; Aged ; Behcet's Syndrome/complications/*epidemiology ; Child ; Child, Preschool ; Female ; Human ; Infant ; Korea/epidemiology ; Male ; Middle Age ; Prevalence ; Retrospective Studies ; Sex Distribution

To investigate an association between surface electrocardiographic (ECG) parameters and sustained ventricular tachycardia (VT) in children after repair of congenital heart disease (CHD), data were obtained and analyzed in three groups (group I, 7 postoperative patients with episode of sustained VT (4 tetralogy of Fallot (TOF), 2 double outlet right ventricle (DORV), 1 truncus arteriosus); group II, 14 children with postoperative TOF not associated with VT; group III, 14 normal children). Mean age at the onset of sustained VT was 129+/-77 months (range 60-232); mean age at corrective surgery, 44+/-33 months (range 10-102); mean follow-up period after surgery, 84+/-74 months (range 20-185); the duration from repair to the onset of sustained VT, range 1-185 months. Compared to group II and III, group I showed longer QRS duration (group I, 137+/-10 msec; group II, 114+/-22 msec; group III, 65+/-12 msec) and shorter corrected J to Tmax interval (group I, 209+/-24 msec; group II, 272+/-44 msec; group III, 249+/-18 msec). QT and corrected QT, J to Tmax interval, and their dispersions in group I and II are significantly different from those of group III. In conclusion, QRS duration and corrected J to Tmax interval could be helpful to predict ventricular tachycardia in postoperative CHD.
Adolescence ; Child ; Child, Preschool ; Electrocardiography ; Female ; Heart Defects, Congenital/surgery* ; Heart Defects, Congenital/physiopathology ; Human ; Infant ; Male ; Tachycardia, Ventricular/etiology*

No abstract available.
AIDS-Related Opportunistic Infections/epidemiology* ; AIDS-Related Opportunistic Infections/diagnosis ; Acquired Immunodeficiency Syndrome/transmission ; Acquired Immunodeficiency Syndrome/epidemiology ; Acquired Immunodeficiency Syndrome/diagnosis ; Adolescence ; Adult ; Age Distribution ; Aged ; Child ; Child, Preschool ; Female ; HIV Infections/transmission* ; HIV Infections/epidemiology* ; HIV Infections/diagnosis ; Human ; Incidence ; Infant ; Infant, Newborn ; Korea/epidemiology ; Male ; Middle Age ; Risk Factors ; Sex Distribution ; Survival Analysis

We reviewed serial computed tomographic (CT) scans of 58 patients with traumatic subdural hygroma (SDG) to investigate its natural history. All were re-evaluated with a special reference to the size and density of SDG. Thirty-four patients (58.6%) were managed conservatively and 24 patients (41.4%) underwent surgery. The lesion was described as remained, reduced, resolved, enlarged and changed. Means of interval from injury to diagnosis and any changes in CT were calculated. SDGs were resolved in 12 (20.7%), reduced in 15 (25.9%), remained in 10 (17.2%), enlarged in 2 (3.4%), and changed into chronic subdural hematoma (CSDH) in 19 patients (32.8%). SDG was diagnosed at 11.6 days after the injury. It was enlarged at 25.5 days, remained at 46.0 days, reduced at 59.3 days, resolved at 107.5 days, and changed into CSDH at 101.5 days in average. SDGs were developed as delayed lesions, and changed sequentially. They enlarged for a while, then reduced in size. The final path of a SDG was either resolution or CSDH formation. Nearly half of SDGs was resolved or reduced within three months, however, 61.3% of unresolved or unreduced SDG became iso- or hyperdense CSDH. These results suggest that the unresolved SDG is the precursor of CSDH.
Adolescence ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Craniocerebral Trauma/complications ; Disease Progression ; Hematoma, Subdural, Chronic/radiography* ; Hematoma, Subdural, Chronic/pathology* ; Hematoma, Subdural, Chronic/etiology ; Human ; Infant ; Longitudinal Studies ; Lymphangioma/radiography ; Lymphangioma/pathology ; Lymphangioma/etiology ; Middle Age ; Subdural Effusion/radiography* ; Subdural Effusion/pathology* ; Subdural Effusion/etiology ; Tomography, X-Ray Computed*

We provided a curve-fit equation to predict the normal heart weight (g) in Koreans by examining 422 autopsies (215 males and 207 females, from newborn to age 77 yr) who were relatively in good general condition. Heart weight was well correlated with body surface area (m2), body weight (kg), and body height (cm) but poorly with age in both sex. Heart weight progressively increased from birth to the earlier 3rd and 4th decades in male and female, respectively, and then gradually decreased; mean heart weight of all age group was greater in male than in female and significantly different from birth to 4th decade. In both sex, heart weight exponentially increased in accordance with the increase of body height, body weight, and body surface (in male, heart weight=0.00312 x body height(2.239), r2=0.750, p<0.0001; in female, heart weight=0.00443 x body height(2170), r2=0.781, p<0.0001; in male, heart weight=9.22 x body weight(0.853), r2=0.770, p<0.0001; in female, heart weight=9.00 x body weight0.855, r2=0.820, p<0.0001; in male, heart weight=155.18 x body surface area1.290, r=0.808, p<0.0001; in female, heart weight=124.13 x body surface area1.242, r=0.834, p<0.0001). These results indicate that heart weight is better correlated with body surface area than with body weight; however, body weight should be a better determinant of a predicted heart weight, since body surface area is entirely dependent on body height and body weight.
Adolescence ; Adult ; Age Factors ; Aged ; Body Height ; Body Weight ; Child ; Child, Preschool ; Female ; Heart/anatomy & histology* ; Human ; Infant ; Infant, Newborn ; Korea ; Male ; Middle Age ; Organ Weight

Currently, Korea is a low endemicity country for HAV, especially in children. However, recent reports of hepatitis A outbreaks show that there has been a shift of disease incidence to adolescents and young adults, with 2 cases of acute liver failure in one reported outbreak. We need to study the immune status for HAV in order to provide information for the establishment of preventive measures and possible consequences of HAV in Korea. A total of 334 infants, children and adolescents less than 20 years of age living in rural areas of Kyonggi Province, Korea were evaluated for anti-HAV immune status in 1996. Five hundred and eighty-four primary school children living in the same area were separately evaluated for the natural seroconversion rate between 1993 and follow-up samples taken in 1996. Anti-HAV IgG antibody was measured by enzyme immunoassay (HAVAB EIA kit, Abbott Laboratories, Chicago, Illinois, USA). In comparison with previous reports of seroprevalence rates, our data confirmed a dramatic drop in seroprevalence rates among children and adolescents under 20 years of age living in rural areas, from over 63.8% two decades ago to 4.6% in 1996. Natural acquisition of HAV antibody in primary school children rarely occurs, registering only 0.5% during three years. Several outbreaks in young adults during 1996-1998 suggested that immunity against HAV in this population is so low that massive outbreaks are unavoidable. Teenagers and young adults, especially soldiers, who are likely to be exposed to contaminated food or water, would also have a greater risk of hepatitis A. Immunizing children with HAV vaccine as a routine schedule should also be considered in Korea in the future, particularly if the disease burden could be estimated and the cost-effectiveness of the vaccine could be proved.
Adolescence ; Adult ; Age Distribution ; Child ; Child, Preschool ; Female ; Hepatitis A/prevention & control* ; Hepatitis A/epidemiology* ; Hepatitis A Vaccines ; Human ; Immunization* ; Infant ; Korea ; Male ; Prevalence ; Sex Distribution ; Viral Hepatitis Vaccines/therapeutic use*

PURPOSE: To describe the CT and MR findings of primary malignant rhabdoid tumor (MRT) of the brain, which is a rare but very aggressive neoplasm in childhood. MATERIALS AND METHODS: Retrospectively, we evaluated the CT and MR findings of 5 patients of primary MRT of the brain with a review of clinical records. RESULTS: The primary MRTs of the brain were large (n = 4) with a tendency to be associated with necrosis, hemorrhage (n = 2) and calcification (n = 2). Solid components of the tumor showed increased attenuation on precontrast CT scan and iso- or slightly hyper-signal intensity on T2-weighted images probably due to hypercellularity. Solid components of the tumor were also well enhanced on contrast-enhanced CT scan (n = 5) and MRI (n = 2). In 1 case with intratumoral bleeding, MR findings were variable on T1-weighted and T2-weighted images. Intracranial and intraspinal metastasis were found in 2 cases on preoperative MR studies. Follow-up CT and MR studies showed recurrence of the tumor and/or leptomeningeal metastasis in 3 cases. CONCLUSIONS: Although CT and MR findings of primary MRT of the brain are nonspecific, a tendency toward large size, calcification and intratumoral bleeding may be attributed to CT and MR findings. The solid components of tumors could present hyperdense on precontrast CT scan and iso- or slightly hyper-signal intensity on T2-weighted MR image. Preoperative and follow-up MR studies are important to detect metastatic foci.
Adolescence ; Brain Neoplasms/pathology ; Brain Neoplasms/diagnosis* ; Child ; Child, Preschool ; Female ; Human ; Infant ; Magnetic Resonance Imaging* ; Male ; Retrospective Studies ; Rhabdoid Tumor/pathology ; Rhabdoid Tumor/diagnosis* ; Tomography, X-Ray Computed*

The aim of this study was to evaluate microchimerism after human liver transplantation (LT). This study included 13 female recipients who received hepatic allograft from male donors at Asan Medical Center. A nested PCR specific for Y-chromosome gene (DYZ3) was used to analyze the small number of male cells in the peripheral blood mononuclear cells of the female recipients. Microchimerism was observed in 6 of 13 recipients and 16 out of 35 samples. Only 3 patients showed microchimerism 3 months after LT. There was no statistical difference between the presence of microchimerism and clinical findings such as type of donor, type of immunosuppression, episode of rejection and age of recipient. This study did not show any clinical relevance of microchimerism and further larger study are needed to confirm the results.
Adolescence ; Adult ; Animal ; Child ; Child, Preschool ; Female ; Human ; Infant ; Liver Transplantation* ; Lymphocytes/immunology* ; Male ; Transplantation Chimera/immunology* ; Transplantation Chimera/genetics ; Y Chromosome