The polyglandular autoimmune syndrome designates the dysfunction of endocrine and nonendocrine system involving two or more organs on the basis of an autoimmune mechanism. The autoimmune nature of these diseases has been based on the presence of lymphocytic infiltration in the affected gland, organ specific autoantibodies in the serum, cellular immune defects and an association with the HLA DR/DQ genes or immune response genes. This syndrome is usually classified into three classes and their etiology or pathogenesis is still not completely understood. A 28-year-old woman developed vitiligo and insulin dependent diabetes mellitus during the treatment of Graves' disease with antithyroid drug. She had a tendency of spontaneous ketonemia and serum c-peptide levels were low(0.21, 0.16ng/mL: fasting and glucagon stimulated). Thyrotrophin binding inhibitor immunoglobulin and pancreas iIslet cell cytoplasmic antibody were positive. We report here a case of polyglandular autoimmune syndrome, type III manifesting Graves' disease, vitiligo, and insulin dependent diabetes mellitus.
Adult ; Autoantibodies ; Bone Diseases ; C-Peptide ; Cytoplasm ; Diabetes Mellitus ; Fasting ; Female ; Genes, MHC Class II ; Giant Cells ; Glucagon ; Granuloma ; Graves Disease ; Humans ; Immunoglobulins ; Insulin ; Ketosis ; Pancreas ; Pedigree ; Thyrotropin ; Vitiligo

In Korea, many medical schools have adapted their curricula to the recent paradigm shift introducing a professional graduate school system with universal accreditation criteria for medical education. This rapid transformation has driven the new adoption of system-based integrated curriculum, problem-based learning, team-based learning, and competency-based assessment. In the hundred years since the publication of Flexner's report that suggested a two-phase educational structure consisting of a basic science didactic curriculum followed by the practicum of clinical clerkships, there have been many advancements in curriculum development for medical education. Medical education is undergoing a major paradigm shift from structure- and process-based to competency-based education utilizing outcome-based assessments. The authors reviewed the existing medical literature to provide practical insight into the clinical presentation curriculum introduced by University of Calgary in 1994, developing a roadmap to accomplish full implementation and evaluation. In the clinical presentation based curriculum, schemata (schemes) are organized by experts from terminal objectives, and are considered to have two functions: first, to serve as frameworks around which students can learn new information and secondly, to provide an approach to clinical problem solving. We conclude that there should be further meticulous review of this new system and a prospective evaluation of the students' ability to benefit from it before launching a program based on the indiscreet adoption of a fashionable curricular reform.
Accreditation ; Adoption ; Clinical Clerkship ; Collodion ; Competency-Based Education ; Curriculum ; Decision Support Techniques ; Education, Medical ; Humans ; Korea ; Learning ; Problem Solving ; Problem-Based Learning ; Publications ; Schools, Medical

No abstract available.
Hypertension, Renovascular*

OBJECTIVES: There are a lot of studies that analyze the interaction between the emotion of disgust and the functional brain images using fMRI and PET. But studies using sLORETA (standardized low resolution brain electromagnetic tomography) almost do not exist. The aim of this research is to explore the relationship of the emotion of disgust and the cortical activation using sLORETA analysis. METHODS: Forty five healthy young adults (27.1+/-2.6 years) participated in the study. While they were watching 4 neutral images and 4 disgusting images associated with mutilation selected from the international affective picture system (IAPS), participants' EEGs were taken for 30 seconds per one picture. Through these obtained EEG data, sLORETA analysis was performed to compare EEGs associated with neutral and negative images. RESULTS: During looking for visual disgusting stimulus, all participants reported unpleasantness, arousal and stress. In sLORETA analysis, the decrease of current density in theta wave was shown at left frontal superior gyrus (BA10) and middle gyrus (BA10, 11). This voxel cluster consists of a total of 11 voxels and the threshold of t value indicating statistically significant decreases in the current density (p<0.05) was -1.984. There were no differences between male and female in the degree of being disgusted by the stimuli. CONCLUSION: This finding may suggest that the activation of dorsolateral prefrontal cortex might be associated with regulating disgust emotion.
Arousal ; Brain ; Electroencephalography ; Female ; Humans ; Magnetic Resonance Imaging ; Magnets ; Male ; Prefrontal Cortex ; Young Adult

Citrullinemia type I is an urea cycle defect caused by mutations in the argininosuccinate synthetase (ASS1) gene. We report a novel argininosuccinate synthetase gene mutation in a Korean family with type I citrullinemia. Metabolic evaluation revealed significant hyperammonemia. Amino acid/acylcarnitine screening using tandem mass spectrometry showed high level of citrulline. Plasma amino acid analysis showed high level of citrulline and the urine organic acid analysis showed makedly increased level of orotic acid. To confirm diagnosis of citrullinemia we did mutation analysis of the ASS1 gene. The patient was found to have mutations of c.689G>C (p.G230A) and c.892G>A (p.E298K), which were new types of argininosuccinate synthetase gene mutation have never been reported in Korea. We report a novel case of argininosuccinate synthetase 1 gene mutation and suggest that the gene study to the family members is necessary to carry out when a patient is diagnosed as citrullinemia.
Argininosuccinate Synthase ; Citrulline ; Citrullinemia ; Humans ; Hyperammonemia ; Korea ; Mass Screening ; Orotic Acid ; Plasma ; Tandem Mass Spectrometry ; Urea

Citrullinemia type I is an urea cycle defect caused by mutations in the argininosuccinate synthetase (ASS1) gene. We report a novel argininosuccinate synthetase gene mutation in a Korean family with type I citrullinemia. Metabolic evaluation revealed significant hyperammonemia. Amino acid/acylcarnitine screening using tandem mass spectrometry showed high level of citrulline. Plasma amino acid analysis showed high level of citrulline and the urine organic acid analysis showed makedly increased level of orotic acid. To confirm diagnosis of citrullinemia we did mutation analysis of the ASS1 gene. The patient was found to have mutations of c.689G>C (p.G230A) and c.892G>A (p.E298K), which were new types of argininosuccinate synthetase gene mutation have never been reported in Korea. We report a novel case of argininosuccinate synthetase 1 gene mutation and suggest that the gene study to the family members is necessary to carry out when a patient is diagnosed as citrullinemia.
Argininosuccinate Synthase ; Citrulline ; Citrullinemia ; Humans ; Hyperammonemia ; Korea ; Mass Screening ; Orotic Acid ; Plasma ; Tandem Mass Spectrometry ; Urea

OBJECTIVES: Recent studies indicated that estrogen receptor 1 subtype(ESR1) genetic polymorphisms may affect the expression of ESR1, and are associated with Alzheimer's disease. This study was designed to investigate the interaction between ESR1 polymorphism and the epsilon4 allele of apolipoprotein E(ApoE) in Korean schizophrenic patients. METHODS: We studied 46 schizophrenic patients and 40 healthy controls. The ESR1 & ApoE polymorphisms were assessed by PCR-restriction fragment length polymorphism(RFLP) or reverse hybridization. RESULTS: The distribution of the genotype in schizophrenic patients with XX, Xx, xx, PP, Pp, pp were 7(15.2%), 20(43.5%), 19(41.3%), 10(21.7%), 19(41.3%), 17(37%), and the controls were 1(2.5%), 12(30%), 27(67.5%), 7(17.5%), 21(52.5%), and 12(30%). No significant differences for genotype distribution were revealed between controls and schizophrenic patients except Xba I genotype. The genotype frequency of schizophrenia with xx of ESR1 and epsilon4 of ApoE were 58.7%, 6.5% and that of the controls were 58.7%, and 15%, respectively. The ESR1 genotypes and ApoE were not associated with onset age, psychiatric symptoms, familial history, subtype(positive vs negative) of schizophrenic cases. In kappa-square, there is no significant difference between the two groups, and we are with an assum the interaction between the homogenous ESR1 xx genotype and the ApoE epsilon4 allele was not ob-served in schizophrenic patients. CONCLUSION: The ESR1 gene may not appears to interact with the ApoE epsilon4 genotype in determining schizophrenia susceptibility. There was no significant association between schizophrenia and ESR1 & ApoE gene polymorphism. But, Xba I genotype may be closer to schizophrenia than Pvu II genotype.
Age of Onset ; Alleles* ; Alzheimer Disease ; Apolipoproteins E ; Apolipoproteins* ; Estrogen Receptor alpha* ; Estrogens* ; Genotype ; Humans ; Polymorphism, Genetic ; Schizophrenia

Systemic amyloidosis is a disease that displays deposition of insoluble polymeric protein fibrils in tissues and organs. We report here on a case of a 64-year-old woman who initially presented with multiple enlarged lymph nodes. Computed tomography showed multiple enlarged lymph nodes in the mediastinal, lower cervical, supraclavicular, axillary and abdominal areas. Excision biopsy of the cervical lymph nodes and the subsequent histopathology showed amorphous eosinophilic material deposits, and these revealed apple-green birefringence on a polarizing microscopic examination on the Congo-red stained slide. The patient was diagnosed with amyloidosis and she received chemotherapy consisting of melphalan and dexamethasone. During chemotherapy, she was diagnosed with breast cancer. After modified unilateral radical mastectomy, the dexamethasone was restarted and this therapy resulted in stable disease.
Amyloid ; Amyloidosis ; Biopsy ; Birefringence ; Breast Neoplasms ; Dexamethasone ; Eosinophils ; Female ; Humans ; Lymph Nodes ; Lymphatic Diseases ; Mastectomy, Radical ; Melphalan ; Middle Aged ; Polymers

We have determined and analyzed the full-length cDNA sequence of a coxsackievirus B3 (CVB3) Korean isolate (CVB3-Korea/97) which has been known as a general human pathogen. The whole genome contains 7,400 nucleotides and has a single large open reading frame with 6,555 nucleotides that encodes a potential polyprotein precursor of 2,185 amino acids. The genome also contains a 5' non-coding region (NCR) of 741 bases and a 3' NCR of 104 bases followed by poly(A) tail. Sequence homologies of nucleotides and deduced amino acids between the CVB3-Korea/97 strain and the prototype (Nancy strain) were 81.7% and 91.5%, respectively. The genes encoding the functional proteins including viral protease and RNA dependent RNA polymerase showed higher homology than those encoding the structural proteins. We have further analyzed the sequences of 5' NCR, VP1 and VP2 of CVB3-Korea/97, which are known as cardiovirulent determining factors at the nucleotide and amino acid levels. Although the CVB 3-Korea/97 strain was isolated from an aseptic meningitis patient without cardiomyopathy, its 234th nucleotide and 165th amino acid were uracil and Asn as same as those of other cardiovirulent strains one. However, the 155th amino acid of VR1, which closely associated with cardiovirulence, was replaced with Arg155 by single nucleoptide substitution from A2916 to T2916. Moreover, additional amino acid substitutions were observed in the flanking region of Asp155. Taken together, aminoacid(s) substitution in VP1 may play a critical role in determining cardiovirulence of the CVB3-Korea/97 strain rather than individual nucleotide replacements in the 5' NCR and/or an amino acid substitution in VP2.
Amino Acid Substitution ; Amino Acids ; Cardiomyopathies ; Clone Cells* ; Cloning, Organism* ; DNA, Complementary* ; Genome ; Humans ; Korea* ; Meningitis, Aseptic ; Nucleotides ; Open Reading Frames ; RNA Replicase ; RNA, Messenger ; Sequence Analysis* ; Sequence Homology ; Uracil

BACKGROUND: Hypertension and age are recognized as important risk factors for left ventricular (LV) diastolic dysfunction. Some studies have shown that diabetes itself may also be an independent risk factor for LV diastolic dysfunction, although this is controversial. The aim of this study was to determine the factors associated with LV diastolic dysfunction in patients with type 2 diabetes in the absence of hypertension or ischemic heart disease (IHD). METHODS: Participants in this study consisted of 65 type 2 diabetes patients (M : F = 45 : 20; mean age 51 [26 to 76] years; mean body mass index [BMI] 25.0 +/- 2.5 kg/m2) without hypertension, heart disease, or renal disease. Individuals with ischemic electrocardiographic changes were excluded. LV diastolic function was evaluated by Doppler echocardiographic studies. RESULTS: Fifteen patients (23.1%) showed LV diastolic dysfunction on Doppler echocardiographic studies. Patients with LV diastolic dysfunction were older than those without diastolic dysfunction (60.0 +/- 2.5 vs. 50.5 +/- 1.9 years; P < 0.01). After adjusting for age and sex, BMI was higher (26.6 +/- 0.7 vs. 24.6 +/- 0.3 kg/m2; P < 0.01) and diabetes duration was longer (9.65 +/- 1.48 vs. 4.71 +/- 0.78 years; P < 0.01) in patients with LV diastolic dysfunction than in those without diastolic dysfunction. There were no differences in sex, smoking, blood pressure, lipid profiles, hemoglobin A1C, fasting glucose, fasting insulin, or diabetic microvascular complications between the LV diastolic dysfunction group and the normal diastolic function group. After adjusting for age, sex, and BMI, diabetes duration was found to be independently associated with LV diastolic dysfunction (odds ratio 1.38; confidence interval 1.12 to 1.72; P = 0.003). CONCLUSION: These results suggest that diabetes duration may be a risk factor for LV diastolic dysfunction in type 2 diabetic patients without hypertension or IHD.
Blood Pressure ; Body Mass Index ; Diabetes Mellitus ; Electrocardiography ; Fasting ; Glucose ; Heart Diseases ; Hemoglobins ; Humans ; Hypertension ; Insulin ; Myocardial Ischemia ; Risk Factors ; Smoke ; Smoking