Mental retardation (MR) is classically deficits in adaptive behavior and manifest during the developmental period. The causes of mental retardation were not understood in many cases. This study was undertaken to identify the etiologies of mentally retarded children enrolled in a special educational institution under the hypothesis that clarifying causes of MR can not only provide basic epidemiological data on MR in Korea, but also imply possibly preventable measures to avoid MR in some cases. In this study, complete medical history was taken in addition to a thorough individual physical examination with collection of urine specimens for metabolic screening tests including ferric chloride, DNPH, nitrosonaphthol, nitroprusside, CTAB, and reducing substance tests in 259 mentally retarded children aged between 3 through 18 year old. The cytogenetic, molecular genetic, and endocrine studies wire performed in 14 children with high clinical suspicion of chromosomal abnormalities and congenital hypothyroidism. Dysmorphism syndromes were delineated using computer software software program. Definite or presumptive etiological diagnosis has been made in 122 (47%) mentally retarded children, Among three major identifiable causes, perinatal brain damage resulted from difficulties in labor, prematurity, kernicterus, and neonatal sepsis, was most commonly found in 57 children (22%), followed by chromosomal abnormalities including Down's syndrome and fragile-X syndrome in 35 children (13.5%), and dysmorphism syndrome in 10 children (3.9%) in order. Other identifiable causes for mentally retarded children were listed as autism (2.3%), endocrine & hereditary metabolic disease (1.9%), central nervous system malformations, neurophakomatoses (1.9%), and postnatal accidents, poisoning, infection (1.5%). In conclusion, aforementioned data suggested that one fourth of MR can be avoided or treated by making efforts to improve peri, postnatal care and early detection. Routine urinary metabolic screening tests for inborn errors cannot be justified though CTAB test showed high specificity for the diagnosis of mucopolysaccharidosis. Some mentally retarded children's families need genetic counselling since Mendelian inherited disorders are culpable for causing MR in some children.
Adaptation, Psychological ; Adolescent ; Autistic Disorder ; Brain ; Central Nervous System ; Child* ; Chromosome Aberrations ; Classification* ; Congenital Hypothyroidism ; Cytogenetics ; Diagnosis ; Down Syndrome ; Humans ; Intellectual Disability ; Kernicterus ; Korea ; Mass Screening ; Mentally Disabled Persons* ; Metabolic Diseases ; Molecular Biology ; Mucopolysaccharidoses ; Nitroprusside ; Physical Examination ; Poisoning ; Postnatal Care ; Sensitivity and Specificity ; Sepsis

Pigmented Bowen's disease (PBD) is a rare variant of Bowen's disease(BD). Most of the reported cases showed pigmented patches or thin plaques. Thus its clinical manifestations may simulated other various pigmented skin lesions. We experienced 2 cases of PBD in patients with multiple BD developed after taking Korean proprietary pills (KPP, "Hwan-Yak"), which were suspected to contain certain amount of arsenics. Both patients also showed arsenical keratosis on their palms and soles. The darker pigmentation of the PBL led us to differentiated them from melanoma.
Bowen's Disease* ; Humans ; Keratosis ; Melanoma ; Pigmentation ; Skin

No abstract available.
Adult* ; Humans ; Purpura, Thrombocytopenic, Idiopathic*

No abstract available.
Adult* ; Humans ; Purpura, Thrombocytopenic, Idiopathic*

No abstract available.
Achondroplasia*

The authors investigated the radioallergosorbent test (RAST) for the specific IgE and the prick test with hose dust mite in 129 patients with atopic dermatitis(AD) wit4 four or more family numbers. RAST and prick test results were described according to family background of respiratory atopy(RA) and severity of AD. The results are summarized as follows : l. A comparison between the prick test results and RAST reactions gave a concordance of 88%. The prick test was more sensitive than the RAST. 2. The level of specific IgE in patients with personal history(PH) or family history(FH) of RA was significantly increased compared to those in patients with only AD. 3. In patients without PH and FH of RA, the level of specific IgE in patients with FH of AD was significantly increased compared to those in patients without FH of AD. 4. The level of specific IgE did not reflect the severity of AD. From the above results, it could be concluded that type I allergy to house dust mite is not directly related to AD and it occurs predominantly in those patients with AD wha have a predisposition to RA.
Dermatitis, Atopic* ; Dust* ; Humans ; Hydrogen-Ion Concentration ; Hypersensitivity* ; Immunoglobulin E ; Mites ; Pyroglyphidae* ; Radioallergosorbent Test

Peripheral blood stem cells(PBSC) were collected for autologous transplantation for the first time in Korea wish Fenwal CS-3000 Plus blood cell separator. Twenty-nine procedures were performed for 7 patients without any incidents. GM-CSF(400ug) was administered daily for 5 days before PBSC collection and the collections were performed 3-6 successive days. A total of 3.5-11.4 x 109 mononuclear cells(MNCs) were collected from 7,000mL blood processed per procedure. The number of MNCs collected was mainly dependent on the concentration of MNCs in patient's blood(r = 0.68, p<0.01). We concluded that the PBSC trans plantation program could be set up without difficulty in Korea since the Fenwal CS-3000 Plus blood cell separator is already available in many institutions and the procedure used in this study is easy to follow.
Autografts ; Blood Cells* ; Humans ; Korea ; Stem Cells* ; Transplantation, Autologous

No abstract available.
Hamartoma*

No abstract available.
Epidemiologic Studies* ; Methicillin Resistance* ; Methicillin-Resistant Staphylococcus aureus* ; Plasmids*

No abstract available.
Epidemiologic Studies* ; Methicillin Resistance* ; Methicillin-Resistant Staphylococcus aureus* ; Plasmids*