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

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

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

A patient presented with loss of consciousness and conversion. During an exercise test, catecholaminergic polymorphic ventricular tachycardia (CPVT) resulted in cardiac arrest. He started taking medication (a beta-blocker and flecainide) and an implantable cardioverter defibrillator (ICD) was inserted, but the ventricular tachycardia did not resolve. Left cardiac sympathetic denervation (LCSD) was then performed under general anesthesia, and the patient was discharged on the second postoperative day without complications. One month after the operation, no shock had been administered by the ICD, and an exercise stress test did not induce ventricular tachycardia. Although beta-blockers are the gold standard of therapy in patients with CPVT, thoracoscopic LCSD is safe and can be an effective alternative treatment option for patients with intractable CPVT.
Anesthesia, General ; Defibrillators ; Defibrillators, Implantable* ; Exercise Test ; Heart Arrest ; Humans ; Shock* ; Sympathectomy* ; Tachycardia, Ventricular* ; Unconsciousness

Postpneumonectomy syndrome (PPS) is a rare late complication of pneumonectomy. It occurs more often in children than in adults, and is characterized by respiratory failure resulting from bronchial compression caused by severe mediastinal shift. Various methods have been used to treat PPS, including aortopexy and the insertion of plastic balls, silastic implants, and saline-filled breast prostheses. We describe two cases of PPS corrected with tissue expanders after right pneumonectomy in patients with esophageal atresia.
Adult ; Breast ; Child* ; Esophageal Atresia ; Humans ; Plastics ; Pneumonectomy ; Prostheses and Implants ; Respiratory Insufficiency ; Tissue Expansion Devices*

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

BACKGROUND: We used an Abramson technique for minimally invasive repair of pectus carinatum in patients who preferred surgery to brace therapy, had been unsuccessfully treated via brace therapy, or were unsuitable for brace therapy because of a rigid chest wall. METHODS: Between July 2011 and May 2015, 16 patients with pectus carinatum underwent minimally invasive surgery. RESULTS: The mean age of the patients was 24.35±13.20 years (range, 14-57 years), and all patients were male. The percentage of excellent aesthetic results, as rated by the patients, was 37.5%, and the percentage of good results was 56.25%. The preoperative and postoperative Haller Index values were 2.01±0.19 (range, 1.60-2.31), and 2.22±0.19 (range, 1.87-2.50), respectively (p-value=0.01), and the median hospital stay was 7.09±2.91 days (range, 5-15 days). Only one patient experienced postoperative complications. CONCLUSION: Minimally invasive repair is effective for the treatment of pectus carinatum, even in adult patients.
Adult ; Braces* ; Humans ; Length of Stay ; Male ; Postoperative Complications ; Surgical Procedures, Minimally Invasive ; Thoracic Wall