Prader-Willi(PW)syndrome is characterized by obesity, hypotonia, mental retardation, hypogonadism, short stature, excessive eating and characteristic facial appearance. Diabetes mellitus has been considered a component of PW syndrome. Recently this syndrome is caused by the absence of paternally derived genes normally located on chromosome segment 15 q11-q13 or may be the result of maternal uniparental disomy with the absence of paternally derived 15 q11-q13 region. The developement of probes containing segments of DNA from chromosome region 15 q11-q13 provides the oppotunity to confirm the diagnosis of PW syndrome by fluorescence in situ hybridization(FISH). We experienced a 15-year-old boy of PW syndrome with diabetes mellitus, who revealed mental retardation, hypogonadism, obesity and microdeletion of chromosome 15 q11-q13 comfirmed by FISH.
Adolescent ; Chromosomes, Human, Pair 15* ; Diabetes Mellitus ; Diagnosis ; DNA ; Eating ; Fluorescence ; Humans ; Hypogonadism ; Intellectual Disability ; Male ; Muscle Hypotonia ; Obesity ; Prader-Willi Syndrome* ; Uniparental Disomy

No abstract available.
Child* ; Humans ; Scrub Typhus*

Acute suppurative thyroiditis is a rare because of high resistance to bacterial infection of thyroid gland, which is rich vascularity and lymphatic drainage, a high iodine content and complete encapsulation. The common clinical manifestations are fever, neck pain and localized mass of thyroid area. This thyroiditis is more common in left thyroid lobe. The most important causal microorganism are staphylococci and streptococci, with frequent isolation of mixed flora and anaerobes. Diagnosis was easily made by typical clinical manifestation, ultrasonography, thyroid imaging and fine needle aspiration. Treatment usually consist of appropriate antibiotic therapy and surgical drainage when abscess formation develops. We report a typical case of acute suppurative thyroiditis in 1 year old female infant with brief review of literatures.
Abscess ; Bacterial Infections ; Biopsy, Fine-Needle ; Diagnosis ; Drainage ; Female ; Fever ; Humans ; Infant ; Iodine ; Neck Pain ; Thyroid Gland ; Thyroiditis ; Thyroiditis, Suppurative* ; Ultrasonography

PURPOSE:The most important regulatory factor for IGF-I and IGFBP-3 known so far GH and food intake. Poor nutrition in children with acute lymphocytic leukemia(ALL) increase morbidity during treatment. The aim of this study was to assess the changes of serum IGF-I and IGFBP-3 concentration during induction chemotherapy in 13 children with acute lymphocytic leukemia. METHODS:13 children aged between 1.6 and 13.5 years with ALL were studied the changes of serum IGF-I and IGFBP-3 concentration before, at 2 and 4 weeks after induction chemotherapy. Serum IGF-I and IGFBP-3 were measured using radioimmunoassay. Results : 1) Mean serum IGF-I and IGFBP-3 concentration before induction chemotherapy in ALL patient was significantly lower than the those of normal control(p<0.05). 2) Mean serum IGF-I and IGFBP-3 concentration at 2 weeks of induction chemotherapy were significantly higher than the those of the basal levels (p<0.05). 3) Mean serum IGF-I and IGFBP-3 concentration at 4 weeks after induction chemotherapy were significantly higher than the those of the basal levels (p<0.05). Conclusion : Concentration of serum IGF-I and IGFBP-3 in patients with ALL were significantly increased during induction chemotherapy. These results are probably related to improvement of nutritional status following induction chemotherapy.
Child* ; Eating ; Humans ; Induction Chemotherapy* ; Insulin-Like Growth Factor Binding Protein 3* ; Insulin-Like Growth Factor I* ; Nutritional Status ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Radioimmunoassay

No abstract available.
Anemia, Megaloblastic* ; Humans ; Megaloblasts* ; Methotrexate*

Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation, craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. This autosomal recessive disease should be differentiated from trisomy 18, which the second most common multiple congenital malformation syndrome. It is therefore clear that the two syndromes have certain features in common, the most consistent being craniofacial and limb abnormalities and intrathoracic pathology. Therefore, final diagnosis should be based on chromosome study. The case that we experienced had typical Pena-Shokeir phenotype, but chromosomal study show 47, XY, +18.
Ankylosis ; Diagnosis ; Extremities ; Fetal Growth Retardation ; Pathology ; Phenotype* ; Polyhydramnios ; Trisomy*

OBJECTIVE: Microsatellite alteration such as loss of heterozygosity (LOH) has been reported to be a novel mechanism for the inactivation of tumor suppressor gene and related to carcinogenesis in many malignant tumors. E-cadherin protein coded by gene on chromosome 16q22.1 may play a principal role for tumor suppression. However LOH of E-cadherin has been rarely studied in endometrial carcinoma. The purpose of this study was to investigate the loss of heterozygosity (LOH) of E-cadherin in endometrial carcinoma and endometrial hyperplasia and to correlate their results with various clinicopathological factors. METHODS: LOH of E-cadherin on the chromosome 16q22.1 analysis was performed by using polymerase chain reaction (PCR) for three polymorphic microsatellite markers (D16S419, D16S3106, D16S498) and automatic laser fluorescent DNA sequencer in 30 cases of endometrioid endometrial adenocarcinomas and in 20 cases of endometrial hyperplasias. The relationship between LOH of E-cadherin and clinical profile was analyzed. RESULTS: Increased LOH of E-cadherin was found in endometrial carcinomas (50%) compared to endometrial hyperplasias (5%) (P=0.01, Fisher's exact test). The incidence of LOH of E-cadherin in endometrial carcinomas also showed significantly lower in stage below Ia. (P=0.034, Fisher's exact test) LOH of E-cadherin was not associated with histologic grade and lymph node metastasis. (P=0.42, P=0.5, Fisher's exact test) CONCLUSIONS: These results suggests that LOH of E-cadherin may contribute to the development of endometrial carcinoma, especially in above stage Ib.
Adenocarcinoma ; Cadherins ; DNA ; Endometrial Hyperplasia ; Endometrial Neoplasms ; Female ; Genes, Tumor Suppressor ; Incidence ; Loss of Heterozygosity ; Lymph Nodes ; Microsatellite Repeats ; Neoplasm Metastasis ; Polymerase Chain Reaction

BACKGROUND: As indicators of obesity, waist circumference (WC), body mass index (BMI), and adiponectin are well known risk factor for diabetes mellitus. The objectives of this study were to measure the independent association between these obesity indicators and diabetes and to examine the combined effect of these indicators on diabetes in a Korean population. METHODS: The WC, BMI, and serum adiponectin were measured in 6,505 healthy Koreans and were classified into tertile groups for men and women. The independent and combined associations of the obesity indicators with diabetes were measured using logistic regression analyses. Diabetes was defined as fasting serum glucose greater than 126 mg/dL or taking medication. RESULTS: Levels of adiponectin were inversely associated with BMI and WC and directly associated with age and high density lipoprotein cholesterol (HDL) cholesterol (P <0.001). After adjusting for age, WC, and other lifestyle factors, low levels of adiponectin were associated with an increased prevalence of diabetes. Further adjustment for HDL cholesterol and triglyceride attenuated this association in both men and women. The best cut-off value of adiponectin in terms of identifying the presence of diabetes was 5.5 /ml with a sensitivity and specificity of 46.7% and 63.9% for men and 9.5 /ml with a sensitivity and specificity of 68.2% and 55.2 for women. CONCLUSIONS: These results suggest that adiponectin was associated with diabetes. The association was independent of WC and was partly modified by HDL and triglyceride. There were no effect modifications of adiponectin with WC on diabetes.
Adiponectin* ; Blood Glucose ; Body Mass Index ; Cholesterol ; Cholesterol, HDL ; Diabetes Mellitus ; Fasting ; Female ; Humans ; Life Style ; Logistic Models ; Male ; Obesity ; Prevalence ; Risk Factors ; Sensitivity and Specificity ; Triglycerides ; Waist Circumference

OBJECTIVES: Paranoia is a complex phenomenon, affected by a number of factors such as depression, trait anxiety, and attributional bias in schizophrenia. The aim of this study was to explore whether paranoia within continuum of clinical and subclinical states is associated with emotional dysregulation, attributional bias and neurocognitive impairment in whole individuals of normal controls, ultra-high risk (UHR) for psychosis and schizophrenia. METHODS: 101 normal controls, 50 participants at UHR for psychosis, and 49 schizophrenia patients were recruited. All subjects were asked to complete self-reported paranoia scale and emotional dysregulation scales including Rosenberg's self-esteem, Spielberg's state-trait anxiety inventory and Beck depression inventory. The attributional style was assessed by Ambiguous Intentions Hostility Questionnaire (AIHQ). Participants were also requested to complete the comprehensive neurocognitive battery. RESULTS: Multiple linear regression analysis showed that paranoia were found to be associated with emotional dysregulation (state anxiety, trait anxiety and depression), composite blaming bias in ambiguous situation, impairment of attention and working memory in whole participants [F (9, 190)=34.85, p<0.001, adjusted R2=0.61]. CONCLUSION: The main findings suggest that paranoia is a complex affective and cognitive structure that may be associated with emotional dysregulation, blaming bias and attention and working memory impairment in clinical and non-clinical paranoia.
Anxiety ; Bias (Epidemiology)* ; Depression ; Hostility ; Humans ; Intention ; Linear Models ; Memory, Short-Term ; Paranoid Disorders* ; Psychotic Disorders* ; Surveys and Questionnaires ; Schizophrenia* ; Weights and Measures

Desmoplastic melanoma is a rare variant of the spindle cell melanoma that first was recognized and described in 1971 as an invasive fibrosarcoma-like tumor that exhibits an abundant collagenous stroma. These tumors usually arise in sun-damaged skin of the head and neck in older persons, in association with lentigo maligna or de novo. The clinical presentation is often not characteristic, and they may clinically simulate other tumors of the skin. Hence they are often diagnosed late. Histologically, desmoplastic melanoma appears as a nodule of fibrous tissue containing hyperchromatic pleomorphic spindle cells that either are scattered singly, lie in fascicles, or aggregate in nests, and collagenous tissue replacing the reticular dermis. Immunohistochemistry is usually quite helpful as the tumors are almost always immunoreactive with S-100 protein and negative for HMB-45. We report a case of desmoplastic melanoma in a 67-year old male who had a walnut sized tumor upon large indurated plaque on the left thigh. A biopsy specimen of the tumor showed that fascicles of spindle cells are interspersed throughout collagenous tissue and most tumor cells are immunoreactive with S-100 protein. To our knowledge, this is the first case report in Korea.
Aged ; Biopsy ; Collagen ; Dermis ; Head ; Humans ; Hutchinson's Melanotic Freckle ; Immunohistochemistry ; Juglans ; Korea ; Male ; Melanoma* ; Neck ; S100 Proteins ; Skin ; Thigh