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

PURPOSE: To evaluate changes in rabbit liver parenchyma on MR images following percutaneous Holmium-166 injection, and to correlate those changes with histologic findings. MATERIALS AND METHODS: Holmium-166 (10-25 mCi) was percutaneously injected into the liver of rabbit (n=12) under sonographic guidance. MR images were obtained between one to two weeks (acute phase) after the injection in four rabbits, and between two to four weeks (subacute phase) after the injection in four rabbits. Tissue specimens of these eight rabbits were obtained immediately after MR imaging. Tissue specimens were obtained without MR imaging in four rabbits (between one to two weeks in one rabbit and between three to four weeks in three rabbits). RESULTS: Tissue specimens showed central liquefactive necrosis and peripheral coagulative necrosis containing deposition of small particles and hemorrhage. The peripheral margin of the lesions showed formation of the granulation tissue with fibrosis, which tended to be more prominent in subacute phase. The area of the necrosis tended to correlate with the dose of the radioactive Holmium-166. On MR images, the central portion of the necrosis showed hyperintensity on T2-weighted image, hypointensity on the precontrast T1-weighted images, and no enhancement on the dynamic MR images. The peripheral portion of the necrosis showed hypointensity on T2-weighted images, iso or mild hypointensity on the T1-weighted images, and mild peripheral enhancement on the delayed dynamic MR images. The peripheral margin of the lesion showed hypointensity on both T1- and T1-weighted images with increased enhancement on the delayed phase images of the dynamic MR images. CONCLUSION: After percutaneous Holmium-166 injection into rabbit liver parenchyma, the central portion showed liquefactive necrosis, the peripheral portion showed coagulative necrosis with granulation, fibrosis, hemorrhage and depostition of small granules. MR imaging may be helpful in evaluation of the histological change of the liver after percutaneous Holmium-166 treatment.
Fibrosis ; Granulation Tissue ; Hemorrhage ; Liver ; Magnetic Resonance Imaging ; Necrosis ; Rabbits ; Ultrasonography

The risk of cardiovascular disease is known to be increased in obstructive sleep apnea syndrome (OSAS). Its mechanism can be explained by the observation that the sympathetic tone increases due to repetitive apneas accompanied by hypoxias and arousals during sleep. Heart rate variability (HRV) representing cardiac autonomic function is mediated by respiratory sinus arrhythmia, baroreflexrelated fluctuation, and thermoregulation-related fluctuation. We evaluated the heart rate variability of OSAS patients during night to assess their relationship with the severity of the symptoms. We studied overnight polysomnographies of 59 male untreated OSAS patients with moderate to severe symptoms (mean age 45.4+/- 11.7 yr, apnea-hypopnea index [AHI]=43.2+/-23.4 events per hour, and AHI >15). Moderate (mean age 47.1+/-9.4 yr, AHI=15-30, n=22) and severe (mean age 44.5 +/-12.9 yr, AHI >30, n=37) OSAS patients were compared for the indices derived from time and frequency domain analysis of HRV, AHI, oxygen desaturation event index (ODI), arousal index (ArI), and sleep parameters. As a result, the severe OSAS group showed higher mean powers of total frequency (TF) (p=0.012), very low frequency (VLF) (p= 0.038), and low frequency (LF) (p=0.002) than the moderate OSAS group. The LF/HF ratio (p=0.005) was higher in the severe group compared to that of the moderate group. On the time domain analysis, the HRV triangular index (p=0.026) of severe OSAS group was significantly higher. AHI was correlated best with the LF/HF ratio (r(p)=0.610, p<0.001) of all the HRV indices. According to the results, the frequency domain indices tended to reveal the difference between the groups better than time domain indices. Especially the LF/HF ratio was thought to be the most useful parameter to estimate the degree of AHI in OSAS patients.
Adult ; Cardiovascular Diseases/*diagnosis/pathology ; Electrocardiography/methods ; *Heart Rate ; Humans ; Male ; Middle Aged ; Oximetry ; Oxygen/metabolism ; Plethysmography ; Polysomnography/methods ; Sleep ; Sleep Apnea, Obstructive/*diagnosis/pathology