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

Cardiovascular complications are major sources of morbidity and mortality in hypertensive patients. To assess the prevalence of anatomical and functional abnormalities of the heart in such patients, we studied total 67 sujects with systemic hypertension and hypertensive cardiovascular disease by echocardiography. Accordingly normal values of echocardiography from 27 control subjects, we found each significant change(p<0.05). of the septal thickness, left ventricular mass, mitral valve E-F slope and aortic dimension on the both groups, but functional measurements did only show significant change on the hypertensive cardiovascular group in contrast to hypertensive subjects group. The prevalence of the echocardiographic abnormalities on the simple hypertensive subjects group who have no abnormal 12-lead E.C.G. or Chest X-rays are orderly 14 subjects(64%) on the aortic root dimension, 9 subjects (41%) on the left ventricular posterior free-wall thickness and 7 subjects(32%) on the septal thickness. These findings demonstrated a high prevalence of cardiac abnormalities in a population of asymptomatic hypertensive subjects. And these abnormalities can be detected well by echocardiography before they were otherwise apparent.
Cardiovascular Diseases ; Echocardiography* ; Heart ; Humans ; Hypertension ; Mitral Valve ; Mortality ; Prevalence ; Reference Values ; Thorax

No abstract available.
Nose ; Pemphigus

OBJECTIVE: To define the clinical and radiological characteristics of the patients with injury of the posterior ligament complex of the cervical spine using MR imaging. MATERIALS AND METHODS: Forty patients with acute cervical spine fracture who underwent surgery were examined with MR imaging and plain radiography. Twenty-five patients underwent posterior fusion. The MR findings were correlated with surgical findings, clinical findings, and plain radiographs. RESULTS: Posterior ligament complex injury was detected in 75% (n=30) of all patients. Of the 20 patients with distractive-flexion injury, 90%(n=18) had posterior ligament complex injury (p<0.05). Of the 15 patients with compressive-flexion injury, 73% (n=11) had ligament injury. Of the 4 patients with vertical compression injury, 1 patient (25%) showed ligament injury. One patient with distractive-extension injury did not show ligament injury. Of the 23 patients with complete spinal cord injury, 96% (n=22) showed ligament tear (p<0.05). Of the 17 patients without complete cord injury (15 incomplete injury, 2 no cord injury), 47% (n=8) had ligament injury. Surgical findings were well correlated with MR imaging in patients who underwent posterior surgery (p<0.05). CONCLUSIONS: Injury of the posterior ligament complex in patients with cervical spine fracture was most common in patients with distractive-flexion injury and was more frequent with complete cord injury. MR imaging could reliably reveal such injuries.
Humans ; Ligaments* ; Magnetic Resonance Imaging ; Radiography ; Spinal Cord Injuries ; Spine* ; Tears

Preoperative diagnosis of heterotopic pregnancy is difficult, especially when ectopic component is chronic and the precise effect of chronic tubal pregnancy on coexisting intra-uterine pregnancy or ongoing pregnancy rates is not known. We present the case of heterotopic pregnancy with a chronic tubal pregnancy incidentally diagnosed during term cesarean delivery in infertile woman conceived after ovulation induction using sequential clomiphene citrate and human menopausal gonadotropin, and timed coitus. Chronic tubal pregnancy might not affect the intrauterine gestation or the mother negatively in non-ruptured cases.
Clomiphene ; Coitus ; Female ; Gonadotropins ; Humans ; Mothers ; Ovulation ; Ovulation Induction ; Pregnancy ; Pregnancy Rate ; Pregnancy, Heterotopic ; Pregnancy, Tubal

PURPOSE: The purpose of this study was to determine the proton MR spectroscopic features of liver cirrhosis and the different proton MR spectroscopic features between liver cirrhosis and the normal human liver by comparing the two different conditions. MATERIALS AND METHODS: The investigation involved 30 cases of in-vivo proton MR spectra obtained from 15 patients with liver cirrhosis demonstrated on the basis of radiologic and clinical findings, and from 15 normal volunteers without a past or current history of liver disease. MR spectroscopy involved the use of a 1.5T GE Signa Horizon system (GE Medical Systems, Milwaukee, U.S.A.) with body coil. STEAM (STimulated Echo-Aquisition Mode) with 3000/30 msec of TR/TE was used for signal acquisition; patients were in the prone position and respiration was not interrupted. Cases were assigned to either the cirrhosis or normal group, and using the proton MR spectra of cases of in each group, peak changes occurring in lipids (at 1.3ppm), glutamate and glutamine (at 2.4 -2 .5ppm), phosphomonoesters (at 3.0 -3 .1ppm), and glycogen and glucose (at 3.4 -3 .9ppm) were evaluated. Mean and standard deviation of the ratio of glutamate + glutamine/lipids, phospho-monoesters/lipids, glycogen + glucose/lipids were calculated from the area of their peaks. The ratio of various metabolites to lipid content was compared between the normal and cirrhosis group. RESULTS: The main characteristic change in proton MR spectra in cases of liver cirrhosis compared with normal liver was decreased relative intensity of lipid peak. Mean and standard deviation of ratio of glutamate + g-lutamine/ lipids, phosphomonoesters/lipids, glycogen + glucose/lipids calculated from the area of their peaks of normal and cirrhotic liver were 0.0204 +/-0.0067 and 0.0693 +/-0.0371 (p<0.05), 0.0146 +/-0.0090 and 0.0881 +/-0.0276 (p<0.05), 0.0403 +/-0.0267 and 0.2325 +/-0.1071 (p<0.05), respectively. The other character-istic feature of proton MR spectra of liver cirrhosis was the peak detected at 3.9 - 4.1 ppm with unknown nature. Mean and standard deviation of area ratio of the unknown peak to lipid peak in proton MR spectra of liver cirrhosis was 0.1504 +/-0 . 0 3 5 5 . CONCLUSION: Proton MR spectra of liver cirrhosis revealed decreased intensity of lipid with statistical signifi-cance compared with that of normal liver, and peak at 3.9 -4.1 ppm with unknown nature. In conclusion, liver cirrhosis can be diagnosed non-invasively by the analysis of observed proton MR spectroscopic features.
Fibrosis ; Glucose ; Glutamic Acid ; Glutamine ; Glycogen ; Healthy Volunteers ; Humans ; Liver Cirrhosis* ; Liver Diseases ; Liver* ; Magnetic Resonance Spectroscopy ; Prone Position ; Protons* ; Respiration ; Steam

The goal of this study was to describe the overall genetic contribution of phenotypic variation to cardiovascular disease. The study population included 7,589 family members of 1,891 families, derived from Korean Medical Insurance Corporation. The risk factors considered were systolic blood pressure (SBP), diastolic blood pressure (DBP), body mass index (BMI), and high serum cholesterol. The levels of cardiovascular disease risk factors were adjusted for age, gender, smoking and alcohol drinking. Heritability was estimated from the slope of the line linear regression of offspring on mid-parent. All risk factors showed positive familial correlations, and correlations were generally lower for spouses than for parent- offspring pairs. Spouse correlations showed increasing patterns with age. Parents-offspring correlations showed little variation with age, suggesting that the observed correlations with CVD risk factors were primarily due to genetic influences rather than environmental effects. Estimated heritabilities were 26% for BMI, 26% for high serum cholesterol, 19% for SBP, and 9% for DBP. These results highlight the importance of considering genetic factors in studies of cardiovascular risk factors.
Adult ; Aged ; Aged, 80 and over ; Blood Pressure/genetics ; Body Mass Index ; Cardiovascular Diseases/*genetics ; Cholesterol/blood ; Female ; Genetic Predisposition to Disease/*genetics ; Human ; Male ; Middle Age ; Risk Factors

A 43-year-old man with no notable medical history was admitted due to sudden onset dysarthria and right side weakness. The man was diagnosed with acute infarction of left basal ganglia (BG) and uncontrolled diabetes mellitus (DM). After 9 hours post the thrombolysis, mental change and left side weakness symptoms were newly observed, and the man was additionally diagnosed with acute infarction in right BG.The man showed symptoms of quadriplegia and was fed through nasogastric tube. He showed motor aphasia, and no signs of phonation, but showed some indications of intact cognition. After rehabilitation therapies, the man showed marginal improvement in motor function, but still lacked any meaningful changes functionally. This is the first case of symmetric bilateral BG infarction, which one-sided infarction additionally occurred within 24 hours post the treatment of contralateral infarction through thrombolysis. Also,the features observed were atypical while the patient has no previous external causes related with bilateral BG infarction.
Adult ; Aphasia, Broca ; Basal Ganglia* ; Cognition ; Diabetes Mellitus ; Dysarthria ; Humans ; Infarction* ; Phonation ; Quadriplegia ; Rehabilitation ; Thrombolytic Therapy

PURPOSE: To investigate the effect of antifreeze protein (AFP) supplementation on ovarian vitrification and transplantation. MATERIALS AND METHODS: In this experimental study, we researched a total of 182 ovaries from 4-week-old ICR mice. The equilibration solution included 20% ethylene glycol (EG), and the vitrification solution included 40% EG, 18% Ficoll, and 0.3 M sucrose. Intact ovaries were first suspended in 1 mL of equilibration solution for 10 min, and then mixed with 0.5 mL of vitrification solution for 5 min. Ovaries were randomly assigned to 3 groups and 0, 5, or 20 mg/mL of type III AFP was added into the vitrification solution (control, AFP5, and AFP20 groups, respectively). The vitrified ovaries were evaluated after warming and 2 weeks after autotransplantation. The main outcome measurements are follicular morphology and apoptosis assessed by histology and the TUNEL assay. RESULTS: A significantly higher intact follicle ratio was shown in the AFP treated groups (control, 28.9%; AFP5, 42.3%; and AFP20, 44.7%). The rate of apoptotic follicles was significantly lower in the AFP treated groups (control, 26.6%; AFP5, 18.7%; and AFP20, 12.6%). After transplantation of the vitrified-warmed ovaries, a significantly higher intact follicle ratio was shown in the AFP20 group. The rate of apoptotic follicles was similar among the groups. CONCLUSION: The results of the present study suggest that supplementing AFP in the vitrification solution has beneficial effects on the survival of ovarian tissue during cryopreservation and transplantation.
Animals ; Antifreeze Proteins/*pharmacology ; Apoptosis/drug effects ; Cryopreservation/*methods ; Cryoprotective Agents/*pharmacology ; Female ; Fertility Preservation ; Humans ; Mice ; Mice, Inbred ICR ; Ovarian Follicle/drug effects ; Ovary/*drug effects/*transplantation ; *Vitrification

OBJECTIVES: In order to find determinants on occurrence of hypertension in the adult male workers in an industry, a nested case-control study was performed in Seoul, Korea at the periodic health examination center. METHODS: A cohort was formed with 1,690 normotensive male workers in 1996 and 1997, who had participated in three consecutive periodic health examinations from 1996 through 1998. Cases were 89 hypertensives in 1998, controls were 356 selected by 1:4 age-matching among 1,601 normotensives in 1998. Baseline health behavior (drinking smoking, exercise), baseline health examination data (height, weight, BMI, blood pressure. hemoglobin, fasting blood sugar, serum total cholesterol), and the changes of data during the study period were compared between case and controls. And multiple logistic regression was performed to find determinants on occurrence of hypertension. RESULTS: There was significant difference in alcohol consumption amount, baseline weight, DM1, blood pressure, total cholesterol, and hemoglobin level. The main determinants on occurrence of hypertension from multiple logistic regression analysis were baseline systolic blood pressure (OR, 1. 13; 95% confidence interval 1.08-1.18%), 15-21 drinks per week (OR, 4.17; 95 % confidence interval 1.44-12.11), and 22 or more drinks per week (OR, 5.29; 95 % confidence interval 1.50-18.58). CONCLUSIONS: This study showed the importance of baseline blood pressure level and adequate drinking habit for the management of hypertension.
Adult* ; Alcohol Drinking ; Blood Glucose ; Blood Pressure ; Case-Control Studies* ; Cholesterol ; Cohort Studies ; Drinking ; Fasting ; Health Behavior ; Humans ; Hypertension* ; Korea ; Logistic Models ; Male* ; Seoul ; Smoke ; Smoking