1.A Case of Prader-Willi Syndrome with Microdeletion of Chromosome 15 q11-q13 Confirmed by FISH.
Ji Heon JANG ; Jee Yeon SONG ; Byung Kyu SUH ; Won Bae LEE ; Byung Churl LEE
Journal of Korean Society of Pediatric Endocrinology 1997;2(1):145-152
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
2.Echocardiographic Assessment of Cardiac Anatomy and Function in Hypertensive Patients.
Jee KIM ; Eun Kie LEE ; Won Koung LEE ; Chang Gun KIM ; Jung Ro PARK ; Choo Young SUH
Korean Circulation Journal 1982;12(1):129-137
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
4.Effect of Antifreeze Protein on Mouse Ovarian Tissue Cryopreservation and Transplantation.
Jung Ryeol LEE ; Hye Won YOUM ; Hee Jun LEE ; Byung Chul JEE ; Chang Suk SUH ; Seok Hyun KIM
Yonsei Medical Journal 2015;56(3):778-784
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
5.Proton MR Spectroscopic Features of Liver Cirrhosis: Comparing with Normal Liver.
Soon Gu CHO ; Won CHOI ; Young Soo KIM ; Mi Young KIM ; Keum Nahn JEE ; Kyung Hee LEE ; Chang Hae SUH
Journal of the Korean Radiological Society 2000;42(4):643-648
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
6.Determinants on Occurrence of Hypertension in the Korean Adult Male Workers in an Industry: a Nested Case-control Study.
Noh Won PARK ; Il SUH ; Tae Yong LEE ; Sun Ha JEE ; Se Ho KIM
Korean Journal of Occupational and Environmental Medicine 1999;11(4):505-515
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
7.Early Recurrent Right Basal Ganglia Infarction after Intravenous Thrombolysis for Left Basal Ganglia Infarction Management.
Hye Min JI ; Jee Hyun SUH ; Yu Hui WON ; Tae Sik YOON
Brain & Neurorehabilitation 2014;7(2):143-146
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
8.Thoracoscopic Left Cardiac Sympathetic Denervation for a Patient with Catecholaminergic Polymorphic Ventricular Tachycardia and Recurrent Implantable Cardioverter-Defibrillator Shocks.
Woo Sik YU ; Tae Hoon KIM ; Jee Won SUH ; Seunghwan SONG ; Chang Young LEE ; Boyoung JOUNG
The Korean Journal of Thoracic and Cardiovascular Surgery 2015;48(3):220-224
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
9.Surgical Treatment of Postpneumonectomy Syndrome with Tissue Expanders in Children.
Hee Suk JUNG ; Jee Won SUH ; Tae Hoon KIM ; Chang Young LEE ; Kyung Young CHUNG
The Korean Journal of Thoracic and Cardiovascular Surgery 2015;48(3):217-219
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*
10.Treatment of Hodgkin's Disease: A Twenty-Year Follow-up of Patients at a Center in Korea.
June Won CHEONG ; Soo Young PARK ; Jae Kyung ROH ; Chang Ok SUH ; Jee Sook HAHN
Yonsei Medical Journal 2006;47(4):455-465
Hodgkin's disease (HD) is a hematologic malignancy which shows common features regardless of race, but racial differences may be considered with certain clinical characteritcs. HD in Korea shows somewhat different characteristics when compared to cases in Western countries. We evaluated the clinical and histopathologic characteristics of HD, the outcomes of various chemotherapy regimens, and prognostic factors of HD in Korea. One hundred and five patients with initial histopathologic diagnosis of Hodgkin's disease were retrospectively reviewed 20 years after diagnosis at Yonsei University College of Medicine. Nodular sclerosis was the most common histopathogic subtype (41%) and mixed cellularity was nearly as common (40%). The overall complete remission rate (CR) was 87.6%. The disease-free survival (DFS) and overall survival (OS) rate were 79.2% and 84.8% at 5-years, 70% and 79.2% at 10- and 20-years. There were no significant differences in CR rate and DFS, but OS rates were significantly higher in m-BACOP and ABVD regimen. Univariate analysis revealed that age, B-symptom, ECOG scale, Ann Arbor stage, international prognostic index, and serum beta2-microglobulin level were significant prognostic factors for both DFS and OS. Multivariate analysis demonstrated that age, B symptoms, and ECOG scale were significant prognostic factors for OS only. In conclusion, the survival rates of HD patients in our center were superior to those of previous reports in Korea and Western countries. Considering the higher OS rate and decreased incidence of side effects, the ABVD regimen may be recommended for the initial treatment of Hodgkin's disease.
Treatment Outcome
;
Remission Induction
;
Prognosis
;
Middle Aged
;
Male
;
Korea
;
Humans
;
Hodgkin Disease/mortality/*therapy
;
Follow-Up Studies
;
Female
;
Disease-Free Survival
;
Child, Preschool
;
Child
;
Antineoplastic Agents/*pharmacology
;
Aged, 80 and over
;
Aged
;
Adult
;
Adolescent