We report a case of a 41-year-old female with acrogeria. She was in good health except for the prominent atrophy over the hands and feet. On microscopic examination of a biopsy specimen from the atropl6c skin, elastic fibers were clumped and fragmented. Electronmicroscopy revealed amorphous and granulous pseudoelastin, which is presumed to be consistent with acrogeria. Our patient had acro-osteolysis and an extra chromosome in addition to the normal 23 pairs of chromosomes in one of 20 cells examined, which have been very rarely reported in the literature. Further studies are needed to find out whether this chromosomal aberration might contribute to the pathogenesis.
Acro-Osteolysis ; Adult ; Atrophy ; Biopsy ; Chromosome Aberrations ; Elastic Tissue ; Female ; Foot ; Hand ; Humans ; Skin

OBJECTIVES: The purpose of this study was to investigate the differences between potential neuroanatomical sites of action of(1) a typical antipsychotic drug (haloperidol), (2) an atypical antipsychotic drug (clozapine), and (3) three combinations of both haloperidol and serotonergic agents (haloperidol+buspirone, haloperidol+cyproheptadine, haloperidol+fluoxetine) by comparing their effects on c-fos expression in the rat brain. METHODS: Twenty-four Wistar rats of male sex, weighing 300-450 g, were divided into 6 groups according to the type of the agents tested [vehicle (0.14 M acetic acid 1 ml/kg), haloperidol (1.0 mg/kg), clozapine (20 mg/kg), haloperidol+buspirone (1.0 mg/kg+1.0 mg/kg), haloperidol+cyproheptadine (1.0 mg/kg+1.0 mg/kg), haloperidol+fluoxetine (1.0 mg/kg+0.25 mg/kg)]. The brain of variously treated rat was examined 2 hours after subcutaneousely injection in the neck. The brain was removed immediately after perfusion with 4% paraformaldehyde and placed in a fresh fixative of the same solution. After 12-hr fixation, brain sections (30 mum) of the areas including the medial prefrontal cortex, nucleus accumbens, and lateral striatum were stained by Fos immunohistochemistry, and subjected to light microscopic analytical observations. RESULTS: 1) The number of Fos-positive neurons in the medial prefrontal cortex was significantly increased in the clozapine, haloperidol+buspirone, haloperidol+cyproheptadine, and haloperidol+fluoxetine treated groups than in the control group (p<0.05). But, the haloperidol treated group shows no significant difference. 2) The number of Fos-positive neurons in the nucleus accumbens was significantly increased in the haloperidol clozapine, haloperidol+buspirone, haloperidol+cyproheptadine, haloperidol+fluoxetine treated groups than in the control group (p<0.05). 3) The number of Fos-positive neurons in the lateral striatum was significantly increased in the haloperidol, haloperidol+buspirone, haloperidol+cyproheptadine, haloperidol+fluoxetine treated groups than in the control group (p<0.05). But, the clozapine treated group shows no significant difference. CONCLUSION: These results suggest that differential expression of c-fos in rat brain induced by haloperidol, clozapine, and haloperidol combined serotonergic agents is associated with their clinical and pharmacological differences.
Acetic Acid ; Animals ; Brain* ; Clozapine* ; Haloperidol* ; Humans ; Immunohistochemistry ; Male ; Neck ; Neurons ; Nucleus Accumbens ; Perfusion ; Prefrontal Cortex ; Rats* ; Rats, Wistar ; Serotonin Agents*

No abstract available.
alpha-Fetoproteins* ; Female ; Humans ; Pregnancy ; Pregnancy Trimester, Second*

PURPOSE: It is known that insulin resistance and compensatory hyperinsulinemia from pancreatic islet cells to overcome insulin resistance could develop in children with simple obesity. When insulin resistance is aggravated by decompensation of high insulin secretion, obese children frequently progress to overt type 2 diabetes mellitus(DM). The purpose of the present study was to measure insulin sensitivity, glucose effectiveness, and insulin secretory capacity in children with simple obesity(n=15, 10.77+/-2.62 yr) and type 2 DM(n=10, 14.22+/-1.76yr) by frequently sampled intravenous glucose tolerance test. METHODS: The data was analyzed as SI(insulin sensitivity), SG(glucose effectiveness) by Bergman's modified minimal model. Insulin secretory capacity was calculated as the area under the insulin curve between 0 and 19 minutes after administration of glucose(AUC, Insulin). RESULTS: SI, KG, and insulin secretory capacity were significantly lower in children with type 2 DM than those in children with simple obesity(P<0.05). SG was not significantly different in both groups. There is a significant correlation between fasting glucose/insulin ratio and SI in the children with simple obesity. CONCLUSION: These results suggest that higher insulin resistance and lower insulin secretory capacity tend to progress to overt type 2 DM in obese children. Frequently sampled intravenous glucose tolerance test might be useful in predicting to progress to overt type 2 DM by serial follow up of SI in children with simple obesity. Fasting glucose/insulin can be used as a screening test to evaluate insulin resistance in children with simple obesity.
Child* ; Diabetes Mellitus, Type 2* ; Fasting ; Follow-Up Studies ; Glucose Tolerance Test ; Glucose* ; Humans ; Hyperinsulinism ; Insulin Resistance* ; Insulin* ; Islets of Langerhans* ; Mass Screening ; Obesity*

Purpose : Shortness is the most frequent and quite disturbing characteristics of patients with Turner syndrome. The aim of this study was to evaluate the factors affecting final adult height(FAH) in these patients. METHODS : The study group was comprised of 19 patients who were diagnosed as Turner syndrome and attained FAH. We analyzed the influences of various factors on FAH in GH treated group with those in GH untreated group. Results : Nineteen patients were enrolled; thirteen received GH treatment and six did not. The mean duration of GH treatment was 24.3 months(range : 9 to 50 months), and the mean dosage of GH was 0.98+/-0.35IU/kg/wk in GH treated group. The mean growth velocity during GH treatment was 5.6+/-1.8 cm/yr, which was significantly higher than that during pretreatment period(P<0.05). In GH treated group, the mean chronological age, bone age, mean height, and height SD score at GH therapy were 13.7+/-1.7yr, 11.3+/-1.9yr, 129.7+/-7.9cm, and -4.1+/-1.1, respectively, which were not statistically different from those at diagnosis of GH untreated group. In GH treated group, the mean FAH and FAH SD score were 144.8+/-5.0cm, and -3.2+/-0.9, respectively, which showed no significant difference compared with those of GH untreated group. Analyzing the factor affecting FAH in all Turner girls of both groups together, parental height, chronological age, bone age, and bone age delay at diagnosis(or at the initiation of GH therapy) were not related to FAH. Height and height SD score at diagnosis(or at the initiation of therapy) were positively related to FAH(P<0.05, r=0.72). CONCLUSION : The results suggest that GH treatment dose not improve FAH in patients with Turner syndrome, despite increased growth velocity during GH treatment, which might come from intermittern GH therapy. This should be remained to be clarified with more Turner patients who attained FAH.
Adult* ; Diagnosis ; Female ; Growth Hormone ; Humans ; Parents ; Turner Syndrome*

PURPOSE: Growth hormone(GH) plays a major role in postnatal longitudinal bone growth. Exogenous growth hormone leads to stimulation of bone resorption as well as formation. The aim of this study is to observe the changes in the indices of bone metabolism and the correlation between growth velocity and changes in the levels of bone markers with GH treatment in children with GH deficiency(GHD). METHODS: Blood samples were collected from 12 patients before and 6 and 12 months after GH therapy. We measured bone-specific alkaline phosphatase(B-ALP), osteocalcin, and carboxy- terminal propeptide of type I collagen(PICP) as markers for bone formation, and cross-linked C-telopeptide of type I collagen(ICTP) as a marker for bone resorption. RESULTS: All patients showed significant increases in both height velocity(P<0.001), and height SD score(P<0.001) with GH therapy. The concentration of B-ALP increased after 12 mos of GH therapy(P<0.05). The maximal osteocalcin levels reached at 6 months of therapy(P<0.05), and decreased to near baseline level afterward. The concentration of PICP and ICTP significantly increased after 12 months of GH therapy(P<0.05). The percent of increase in serum B-ALP level during the first 6 months of GH treatment significantly correlated with increase in height SD score during the first year of GH therapy(P<0.005). CONCLUSION: GH treatment in children with GHD leads to activation of osteoclasts and osteoblasts as evidenced by increased biochemical markers of bone resorption and formation. The changes in the serum level of B-ALP during the first 6 months of therapy appears to be a useful marker for predicting growth responses during the first year of GH therapy.
Biomarkers ; Bone Development ; Bone Resorption ; Child* ; Growth Hormone* ; Humans ; Metabolism* ; Osteoblasts ; Osteocalcin ; Osteoclasts ; Osteogenesis

PURPOSE: Congenital hypothyroidism(CH) is not uncommon disorder, leading to retardation of mental development and growth, if not treated early. The aim of this study is to determine the factors influencing IQ of children with CH, diagnosed after 1 month of life. METHODS : Thirteen children with CH were included. They had intelligence test by KEDI-WISC(Korean Educational Development Institute-Wechsler Intelligence Scale for Children) and their medical records were reviewed. Their T4, TSH, height, age at diagnosis were investigated retrospectively. To evaluate the influence of T4, TSH, height, age at diagnosis on IQ, children were divided into three groups ; athyroid(n=8), sublingual(n=3), inborn errors of thyroid hormone synthesis(n=2) according to the result of thyroid scan. Results : In athyroid group, IQ closely correlated to VIQ and PIQ and had close relationship to T4 at diagnosis(.p=0.0086, r=0.8427), but no relation to TSH. There was no difference in height, T4 TSH, and IQ between athyroid and sublingual group. CONCLUSION : The results suggest that intellectual function in children with CH, diagnosed after 1 month of life depends on serum level of T4 at diagnosis. Further study is mandatory to elucidate the relationship between final IQ and factors, including thyroid function, age at diagnosis, adequacy of treatment, etc.
Child* ; Congenital Hypothyroidism* ; Diagnosis ; Growth and Development ; Humans ; Intelligence ; Intelligence Tests ; Medical Records ; Retrospective Studies ; Thyroid Gland

No abstract available.
Chorion* ; Chorionic Villi Sampling* ; Chorionic Villi* ; Female ; Fetus* ; Pregnancy ; Prenatal Diagnosis* ; Trisomy*

We report cases of two patients with acute generalized exanthematous pustulosis(AGEP). One patient had localized cutaneous infection and the other rhinoplasty. Both were being treated with ampicillin and developed intense erythemas followed by generalized subcorneal pustulation associated with fever and a neutrophilic leukocytosis. Histopathological findings were subcorneal spongiform pustules showing preponderance of polymorphonuclear leukocytes. Generalized pustular psoriasis, subcorneal pustular dermatosis, impetigo and pemphigus foliaceus should be differentiated from AGEP. The causative drug in both of our cases was ampicillin and fast resolution of pustules was observed with a low dosage of systemic steroid within 5 days.
Acute Generalized Exanthematous Pustulosis* ; Ampicillin* ; Erythema ; Fever ; Humans ; Impetigo ; Leukocytosis ; Neutrophils ; Pemphigus ; Psoriasis ; Rhinoplasty ; Skin Diseases, Vesiculobullous

Recently, methionyl-hGH was produced in the E. coil K-12, W3110 by recombinant DNA technology in Korea. In this paper, the clinical efficacy and immunogenicity of this GH were studied in 43 patients with growth hormone deficency.The subjects of this study were aged 4.3-18.5 years and each patient received GH 0.5-0.71U/kg week subcutaneously, 6-7 times a week for 1 year. During treatment, height, body weight and bone age were checked. Blood count, urinalysis, blood chemistry and thyroid hormonal concentrations were checked before and every 3 months. The measurement of IGF-1 was performed and assay of antibody against hGH was performed before and every 6 months.The height velocities significantly increased from 3.7+-3.0 cm/year to 11.0+-4.2 cm/year and 9.9+-3.2 cm/year at 6 and 12 months after GH therapy, respectively. The Height SDS were significantly improved after GH therapy with increasing ratio of bone age to chronological age from 0.60+-0.19 at pretreatment to 0.68+-0.16 at 6 month, 0.69+-0.16 at 12 month of therapy. The plasma IGF-1 levels significantly increased during treatment. Three out of 35 patients(8.3%) showed antibody against hGH after 1 year of treatment. Thoughout study, we could not observe any remarkable side effect with GH treatment.These results indicate that this E. coli derived methionyl recombinant growth hormone is effective in improving the index of linear growth in the children with growth hormone deficiency without significant side effect.
Body Height ; Chemistry ; Child ; DNA, Recombinant ; Growth Hormone ; Human Growth Hormone ; Humans ; Insulin-Like Growth Factor I ; Korea ; Plasma ; Thyroid Gland ; Treatment Outcome ; Urinalysis