Glycogen storage diseases(GSD) are inherited disorders affecting glycogen metabolism and type I GSD is due to the absence or deficiency of glucose-6-phosphatase(G6Pase) enzyme in the liver, kidney, and intestinal mucosa. The defect leads to inadequate hepatic conversion of G6P to glucose and thus make affected individuals susceptible to fasting hypoglycemia, and the accumulation of glycogen occurs in the liver and other organs. Type Ia is the most common form of GSD and clinically growth retardation may manifest of GSD itself rather than growth hormone deficiency(GHD), but we experienced a case of type I GSD with GHD in a 14-year-o1d male. The height was 125 cm, compatible with 50 th percentile of height of 8 years of age. He has doll-like face with fat cheek, relatively thin extremities, and metabolic acidosis, hyperuricemia, hypoglycemia, hyperlipidemia. GH stimulation test with clonidine and L-dopa revealed that the patient had decreased GH secretion. After laboratory work up including liver biopsy, he was diagnosed as type I GSD. Hypoglycemia was managed with frequent feeding with high starch diet(uncooked cornstarch). Metabolic acidosis and hyperuricemia were treated with sodium bicarbonate, allopurinol and probenecid. The patient is being followed at out-patient clinic with clinical improvement after of diet therapy and GH administration.
Acidosis ; Allopurinol ; Biopsy ; Cheek ; Clonidine ; Diet Therapy ; Extremities ; Glucose ; Glycogen Storage Disease* ; Glycogen* ; Growth Hormone* ; Humans ; Hyperlipidemias ; Hyperuricemia ; Hypoglycemia ; Intestinal Mucosa ; Kidney ; Levodopa ; Liver ; Male ; Metabolism ; Outpatients ; Probenecid ; Sodium Bicarbonate ; Starch

BACKGROUND: The central physiological derangement of hemorrhagic fever with renal syndrome (HFRS) caused by hantaan virus (HTNV) is a vascular dysfunction, manifested by hemorrhage, impaired vascular tone and increased vascular permeability. Platelet activating factor (PAF), whose actions are mediated through a specific receptor, is a potent bioactive lipid. PAF has diverse biological functions in the vascular system, such as increasing vascular permeability, adhesion of leukocytes to the endothelium and reduction of cardiac output, which result in hypotension and shock. The goal of the present study was to investigate whether PAF is involved in the pathogenesis of HFRS. For this purpose, we evaluated the effect of HTNV on the expression of PAF receptor (PAF-R) and on the activity of PAF-acetylhydrolase (PAF-AH) instead of PAF because PAF is rapidly degraded by PAF-AH in vivo. MATERIALS AND METHODS: To evaluate the expression of PAF-R, we performed reverse-transcription PCR, western blot and FACS analyses using HTNV-infected human umbilical vein endothelial cells (HUVECs) and non-infected (control) HUVECs. In addition, we measured the activity of plasma PAF-AH in HFRS patients and normal healthy persons. RESULTS: The mRNA and protein expression of PAF-R was increased in HTNV-infected HUVECs compared with control HUVECs at 2 and 3 days post-infection (d.p.i.). FACS analysis showed that HTNV induced the surface expression of PAF-R in HUVECs from 2 d.p.i. The activity of plasma PAF-AH was 2.5-fold lower in HFRS patients than in normal healthy persons. CONCLUSION: Increased PAF-R expression by HTNV might increase the responsiveness to PAF in endothelial cells. Reduced PAF-AH activity in the blood of HFRS patients might delay PAF degradation. These results suggest that changes in PAF-R and PAF-AH by HTNV might influence to PAF activity and might be involved in the vascular dysfunction of HFRS.
Blood Platelets ; Blotting, Western ; Capillary Permeability ; Cardiac Output ; Endothelial Cells ; Endothelium ; Hantaan virus ; Hemorrhage ; Hemorrhagic Fever with Renal Syndrome ; Human Umbilical Vein Endothelial Cells ; Humans ; Hypotension ; Leukocytes ; Plasma ; Platelet Activating Factor ; Platelet Membrane Glycoproteins ; Polymerase Chain Reaction ; Receptors, G-Protein-Coupled ; RNA, Messenger ; Shock

Chordoid glioma is a rare, low-grade brain neoplasm typically located in the third ventricle. Herein, we report an unusual case of histologically confirmed chordoid glioma located in the pituitary fossa and suprasellar region, not attached to the third ventricle. A 57-year-old woman presented with a 2-month history of headache and visual disturbance. Magnetic resonance imaging revealed an ovoid mass in the pituitary fossa and suprasellar region, compressing the optic chiasm without involvement of the third ventricle. The tumor showed low signal intensity on T1-weighted images and iso- to high signal intensity on T2-weighted images, with strong and homogenous contrast enhancement. Subtotal resection was performed via the transcranial approach, and the patient subsequently received adjuvant gamma knife radiosurgery. However, the residual mass showed disease progression 5 months after the initial surgery.
Brain Neoplasms ; Disease Progression ; Female ; Glioma* ; Headache ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Optic Chiasm ; Radiosurgery ; Third Ventricle

No abstract available.
Herpesvirus 3, Human* ; Korea*

Myotonia congenita (MC) is a hereditary disease of the chloride channels of skeletal muscle caused by mutation of CLCN1. It characteristically manifests as delayed relaxation of the skeletal muscle or myotonia. It has a wide phenotypic variability, ranging from asymptomatic to severe disability. However, it is uncommon for a phenotypic difference to appear within a family. We report the first Korean family with the p.A313T mutation exhibiting marked phenotypic variability.
Chloride Channels ; Genetic Diseases, Inborn ; Humans ; Muscle, Skeletal ; Myotonia Congenita* ; Myotonia* ; Relaxation

OBJECTIVES: The purpose of this study is to investigate the characteristics of drinking patterns and the prevalence of hazardous drinking and alcohol use disorder with the assessment of alcohol policy needs in community population of urban city in Korea. METHODS: Data was collected from 1,000 residents in a single urban city in Korea, from June 1 to July 31, 2011 by a questionnaire. As research tools, socio-demographic characteristics composed of variables based on study purpose, alcohol problems and alcohol use disorder state scales composed with Alcohol Use Disorder Identification Test(AUDIT) and Cut down, Annoyed, Guilty, Eye-opener(CAGE), and the assessment of alcohol policy needs in community population questions were used. RESULTS: The lifetime experience of alcohol drinking was 97.4%. For the frequency of drinking, 21.9% of population responded 2 to 4 times per weekly. 24.4% of male had one time or more high risk drinking, defined as having four or more drinks in a sitting, per week. 51.6% experienced the first time drinking of alcohol in adolescence. The lifetime prevalence of hazardous drinking and alcohol use disorder were 14.9% and 3.3%, respectively using AUDIT. Alcohol use disorder were 9.6% with the CAGE scale. Problem drinking were 8.4% in this study. They requested the program such as prevention education(57.2%), construction of liaison system to treatment facilities( 50.1%), alcohol counseling and intervention(41.7%), and rehabilitation program(39.8%). CONCLUSIONS: These results demonstrate that alcohol problem and alcohol use disorder were much prevalent, and these problem started in the earlier age. It is necessary to develop an effective alcohol prevention program or policy with considering the needs in community population.
Adolescent ; Alcohol Drinking ; Counseling ; Drinking ; Humans ; Korea ; Male ; Prevalence ; Questionnaires ; Weights and Measures

PURPOSE: This study was designed to evaluate diagnostic accuracy of serial electrocardiograms(ECG), myocardial band of creatinine phosphokinase(CK)(CK-MB/CK ratio) and two dimensional echocardiography(ECHO) for myocardial injury in patients with blunt chest trauma. METHODS: We prospectively investigated 54 patients(male : 38, female : 16, mean age : 41) with severe blunt chest trauma. Presence of myocardial injury was determined by increase(>0.1ug/L) of peak serum troponin T(TnT) concentration from serial mesurements. RESULTS: Among 54 patients with blunt chest trauma, 23 patients(43%) had increased peak TnT level which suggested of myocardial injury. Among 23 patients with increased TnT, abnormal ECG findings were found in 18(78%) and echocardiographic abnormalities were observed in 17(74%). Cardiovascular events in 9(39%) of 23 patients with increase Tnt. There was no cardiovascular events in patients with normal TnT. CONCLUSION: Significant proprotion of patients with blunt chest trauma had elevated TnT value which suggested of myocardial injury. We recommend echocardiagraphy and serial tracing of ECG to verify the clinical significance of elevated TnT in patients with blunt chest trauma.
Creatinine ; Diagnosis* ; Echocardiography ; Electrocardiography ; Female ; Humans ; Prospective Studies ; Thorax* ; Trinitrotoluene ; Troponin ; Troponin T

BACKGROUND: Cardiovascular injury is a potentially fatal complication of blunt chest trauma. The diagnosis of cardiovascular injury in blunt chest trauma is not easy because of concomittent injuries of thoracic cage or lungs and early death from cardiovascular injury. Diagnostic tools such as electrocardiography or cardiac enzyme studies are not specific to cardiovascular injury. Two-demensional echocardiography can visualize anatomic and functional disturbances from cardiovascular injuries in patients with blunt chest trauma. Purpose: This study was designed to evaluate the usefulness of echocardiography in detecting cardiovascular injury of patients with blunt chest trauma. METHODS: We performed echocardiography for detecting cardiovascular injury in 151 patients with significant blunt chest trauma including sternal fracture, multiple rib fractures or pulmonary contusion. Echocardiography was performed within 6 hours since patient arrived emergency department. Electrocardiography was traced on arrival and 24 hours after admission. Serial determinations of cardiac enzymes including MB fraction of creatinine phosphokinase were also performed every 8 hours after admission. RESULTS: 37(25%) patients had echocardiographic evidences of cardiovascular injury. Abnormal echocardiographic findings were 10 pericardial effusion, 9 regional wall motion abnormality(RWMA) outright ventricle, 5 aortic injuries, 4 reduced left ventricular ejection fraction, 3 RWMA of left ventricle, 2 right ventricular dilatation, 2 valve injuries, and 2 other cardiovascular injuries. Electrocardiographic abnormalities were associated with echocardiographic findings. However, CK-MB/CK ratio was not associated with echocardiographic findings. Significant proportion(65%) of patients with abnormal echocardiographic findings needed cardiovascular management during hospital stay. CONCLUSION: Two-dimensional echocardiography is useful for detecting cardiovascular injury. Echocardiographic abnormality in blunt chest trauma is associated with high probability of need of cardiovascular management.
Contusions ; Creatinine ; Diagnosis* ; Dilatation ; Echocardiography* ; Electrocardiography ; Emergency Service, Hospital ; Heart Ventricles ; Humans ; Length of Stay ; Lung ; Pericardial Effusion ; Rib Fractures ; Stroke Volume ; Thorax*

This study aimed to ascertain whether medical students would enter a closed area where there was a raging epidemic of an infectious disease with a high fatality rate, and includes reasons for the students entering or refusing to enter. Participants included 50 second-year medical students. They were assigned to read a novel entitled 28, written by Youjeong Jeong, and discuss it in groups. Using their book reports, their decisions of whether or not to enter Hwayang, the city from the novel, and the reasons for their decisions were analyzed; we furthermore investigated the factors affecting their decisions. Among the 50 respondents, 18 students (36%) answered that they would enter, and the remaining 32 students (64%) answered that they would not enter the zone. The reasons given for entering were responsibility (44%), sense of ethics (33%), social duty (17%), and sense of guilt (6%). The reasons the students provided for not entering were inefficiency (44%), worry regarding family (28%), needlessness of sacrifice (19%), and safety not ensured (9%). Students who had four or fewer family members were more likely to enter Hwayang than were students who had five or more family members (odds ratio, 1.85). Students who had completed over 100 hours of volunteer work were more likely to enter Hwayang than were students who had volunteered less than 100 hours (odds ratio, 2.04). Owing to their "responsibility" as a doctor, 36% of medical students answered that they would enter an exclusion zone in an infected district with a high fatality rate. However, 64% answered they would not enter because of "inefficiency." For the medical students it is still a question 'To enter or not to enter?'
Communicable Diseases ; Surveys and Questionnaires ; Ethics ; Guilt ; Humans ; Mortality* ; Odds Ratio ; Rage ; Students, Medical* ; Volunteers ; Writing

Circumcision has been popularly performed with mechanical device such as Gomco clamp, Plastibell device and other modified device. We experienced a case of denudation of entire penile epithelium and abnormal curvature during erection after circumcision using self-circumcision device (GM sense) at home. So we report with a brief review of literature.
Circumcision, Male* ; Epithelium ; Female ; Male