Fabry's disease is a rare hereditary metabolic disease caused by alpha-galactosidase deficiency, resulting in abnormal accumulation of galactosyl galactosyl galactosyl ceramide (ceramide trihexoside) in various organs. Articles in English reported approximately one hundred cases but only two cases in Korea. Recently the authors experienced a case of Fabry's disease of a male patient and studied the electronmicroscopy on skin biopsied tissue and enzyme assay of alpha -galactosidase activity in his peripheral blood leukocytes. The male patient was a 21-year-old soldier who suffered from anhidrosis with heat intolerance and generalized telangietatic papules (Angiokeratoma corporis diffusum) since childhood. Other clinical findings were ocular change, paroxysmal pain of lower extremities and proteinuria with oval fat bodies on urinalysis. The ultrastructural study of skin demonstrated abnormal lysosomal deposits of finger-prints or "zebra" body configuration in the endothelial cells, pericytes, perineural cells and intercalated ductal epithelium of sweat glands. Enzyme activity of alpha-galactosidase was markedly decreased in the peripheral blood leukocytes comparing to the normal control, which was conclusive to make a diagnosis of Fabry's disease.
Child ; Male ; Female ; Humans

Fabry's disease is a rare hereditary metabolic disease caused by alpha-galactosidase deficiency, resulting in abnormal accumulation of galactosyl galactosyl galactosyl ceramide (ceramide trihexoside) in various organs. Articles in English reported approximately one hundred cases but only two cases in Korea. Recently the authors experienced a case of Fabry's disease of a male patient and studied the electronmicroscopy on skin biopsied tissue and enzyme assay of alpha -galactosidase activity in his peripheral blood leukocytes. The male patient was a 21-year-old soldier who suffered from anhidrosis with heat intolerance and generalized telangietatic papules (Angiokeratoma corporis diffusum) since childhood. Other clinical findings were ocular change, paroxysmal pain of lower extremities and proteinuria with oval fat bodies on urinalysis. The ultrastructural study of skin demonstrated abnormal lysosomal deposits of finger-prints or "zebra" body configuration in the endothelial cells, pericytes, perineural cells and intercalated ductal epithelium of sweat glands. Enzyme activity of alpha-galactosidase was markedly decreased in the peripheral blood leukocytes comparing to the normal control, which was conclusive to make a diagnosis of Fabry's disease.
Child ; Male ; Female ; Humans

BACKGROUND: The prevalence of atopic dermatitis (AD) has increased in recent decades. Although the genetic predisposition to this disease has been implicated, environmental factors may play a critical role in the disease expression. OBJECTIVE: We investigated the prevalence of AD symptoms and the effects of suspected environmental factors in rural and urban areas of Gyeonggi Province in Korea. METHODS: This study was carried out among 210 patients with AD. We asked them to fill out a questionnaire covering their clinical manifestations, environment and lifestyle. The severity of AD was evaluated using the SCORAD index and the factors affecting the severity of the disease were determined. RESULTS: There were statistical differences in the SCORAD index between rural and urban residents (p<0.05). The SCORAD index of the rural residents was higher than that of urban residents. There were statistical differences in the frequency of applying moisturizer in five minutes after bathing between rural and urban residents (p<0.05). CONCLUSION: These results suggest that the management of disease is more important than environmental factors in the severity of atopic dermatitis.
Baths ; Dermatitis, Atopic* ; Genetic Predisposition to Disease ; Gyeonggi-do ; Humans ; Korea ; Life Style ; Prevalence ; Surveys and Questionnaires

Heterotopic pregnancy occurs when there are coexisiting intrauterine and ectopic pregnances. It occure, more often, due to assisted reproductive technology such as IVF-ET, GIFT and increased pelvic inflammatory diseases. We present a case of heterotopic pregnancy confirmed by surgical removal of ruptured left ovarian pregnancy and sonographic finding of the intrauterine pregnancy following natural conception.
Female ; Fertilization ; Pelvic Inflammatory Disease ; Pregnancy ; Pregnancy, Ectopic ; Pregnancy, Heterotopic* ; Reproductive Techniques, Assisted ; Ultrasonography

Alendronate sodium (Fosamax(R)) is an aminophosphonate used in treatment of postmenopausal osteoporosis by inhibition of osteoclastic activity. Esophageal ulcers related to alendronate use have been reported at the rate of 2~6%. However, there have been no reports of esophagitis or esophageal ulcer by alendronate in Korea. We present a case of esophageal ulcer caused by alendronate. The patient presented with retrosternal pain and severe odynophagia for a few days. Esophagogastroduodenoscopy revealed multiple deep ulcers at the esophagus. Her symptoms resolved completely after stopping alendronate. A follow-up esophagogastroduodenoscopy 6 weeks later revealed complete healing of the ulcers.
Alendronate* ; Endoscopy, Digestive System ; Esophagitis ; Esophagus ; Female ; Follow-Up Studies ; Humans ; Korea ; Osteoclasts ; Osteoporosis, Postmenopausal ; Ulcer*

During the last two decades, there has been an increasing interest in the impact of oral health on atherosclerosis and subsequent cardiovascular disease (CVD). To date, some periodontal pathogens including Porphyromonas gingivalis (P. gingivalis) have been reported to be relevant to CVD. Porphyromonas endodontalis (P. endodontalis), which shares approximately 87% sequence homology with P. gingivalis, is mostly found within infected root canals. However, recent studies reveal that this pathogen also resides in the dental plaque or periodontal pocket in patients with periodontitis. It has been shown that P. endodontalis invades human coronary artery endothelial cells (HCAEC) and coronary artery smooth muscle cells (CASMC). To evaluate whether P. endodontalis can participate in the progression of atherosclerosis and CVD, we examined the changes in transcriptional gene expression profiles of HCAEC responding to invasion by P. endodontalis in this study. The following results were obtained. 1. Porphyromonas endodontalis was invasive of HCAEC. 2. According to the microarray analysis, there were 625 genes upregulated more than two-folds, while there were 154 genes downregulated by half. 3. Upregulated genes were relevant to inflammatory cytokines, apoptosis, coagulation and immune response. Enhanced expression of MMP-1 was also noticeable. 4. The transcription profiles of the 10 selected genes examined by real-time PCR agreed well with those observed in the microarray analysis. Thus, these results show that P. endodontalis presents the potential to trigger and augment atherosclerosis leading to CVD.
Apoptosis ; Atherosclerosis ; Cardiovascular Diseases ; Coronary Vessels ; Cytokines ; Dental Plaque ; Dental Pulp Cavity ; Endothelial Cells ; Gene Expression ; Humans ; Microarray Analysis ; Myocytes, Smooth Muscle ; Oral Health ; Periodontal Pocket ; Periodontitis ; Porphyromonas ; Porphyromonas endodontalis ; Porphyromonas gingivalis ; Real-Time Polymerase Chain Reaction ; Sequence Homology ; Transcriptome

PURPOSE: The purposes of this study were to evaluate symptom experience and quality of life (QOL) and to identify the predictors of QOL among breast cancer survivors. METHODS: A cross-sectional study was conducted on 200 disease-free breast cancer survivors at two hospitals between December 2007 and July 2008. Functional Assessment of Cancer Therapy Scale-B, Memorial Symptom Assessment Scale-short Form and The Linear Analogue Self Assessment Scale were used to assess symptom experience and QOL in these patients. Data were analyzed using the Pearson correlation, t-test, ANOVA, and stepwise multiple regression with SPSS/WIN 12.0. RESULTS: The mean score of QOL for breast cancer survivors was 95.81 (+/-18.02). The highest scores among physical and psychological symptoms were sexual interest and anxiety. Year since treatment completion was significantly associated with QOL in sociodemographic variables. Physical and psychological symptoms have a significant negative association with QOL. The results of the regression analyses showed that physical and psychological symptoms were statistically significant in predicting patients' QOL. CONCLUSION: Symptom experience and QOL are essential variables that should be acknowledged when delivering health care to breast cancer survivors. More attention to the reduction and management of psychological distress could improve QOL among breast cancer survivors.
Adaptation, Psychological ; Adult ; Anxiety ; Breast Neoplasms/*psychology ; Cross-Sectional Studies ; Data Interpretation, Statistical ; Disease-Free Survival ; Emotions ; Female ; Health Status ; Humans ; Middle Aged ; *Quality of Life ; Questionnaires ; Survivors/*psychology

No abstract available.
Infection Control* ; Jeollanam-do*

PURPOSE: Early postoperative arrhythmias are a major cause of mortality and morbidity after open heart surgery in the pediatric population. We evaluated the incidence and risk factors of early postoperative arrhythmias after surgery of congenital heart disease. METHODS: From January 2002 to December 2008, we retrospectively reviewed the medical records of the 561 patients who underwent cardiac surgery in Kyungpook National University Hospital. We analyzed patients' age and weight, occurrence and type of arrhythmia, cardiopulmonary bypass (CPB) time, aortic cross clamp (ACC) time, and postoperative electrolyte levels. RESULTS: Arrhythmias occurred in 42 of 578 (7.3%) cases of the pediatric cardiac surgery. The most common types of arrhythmia were junctional ectopic tachycardia (JET) and accelerated idioventricular rhythm (AIVR), which occurred in 17 and 13 cases, respectively. The arterial switch operation (ASO) of transposition of the great arteries (TGA) had the highest incidence of arrhythmia (36.4%). Most cases of cardiac arrhythmia showed good response to management. Patients with early postoperative arrhythmias had significantly lower body weight, younger age, and prolonged CPB and ACC times (P<0.05) than patients without arrhythmia. Although the mean duration of ventilator care and intensive care unit stay were significantly longer (P<0.05), the mortality rate was not significantly different among the 2 groups. CONCLUSION: Early postoperative arrhythmias are a major complication after pediatric cardiac surgery; however, aggressive and immediate management can reduce mortality and morbidity.
Accelerated Idioventricular Rhythm ; Arrhythmias, Cardiac ; Arteries ; Body Weight ; Cardiopulmonary Bypass ; Child ; Heart ; Heart Diseases ; Humans ; Incidence ; Intensive Care Units ; Medical Records ; Retrospective Studies ; Risk Factors ; Tachycardia, Ectopic Junctional ; Thoracic Surgery ; Ventilators, Mechanical

Atrophic dermatofibrosarcoma protuberans (DFSP) is a rare variant of DFSP, which presents as a depressed scar-like lesion with atrophic patch. Although atrophic DFSP is identical to classical DFSP in biologic and histologic features, such atrophic lesions can be difficult to diagnose clinically. Better knowledge of atrophic DFSP is important for making an early diagnosis and for proper surgical treatment. We report the case of a 33-year-old female presented with a gray depressed atrophic patch with a skin-colored, pea-sized nodule on the left lateral rim, and an erythematous indurated plaque on her upper back. Histopathologically, the atrophic patch showed densely packed, monomorphous, plump spindle cells arranged in a storiform pattern, infiltrating the dermis and subcutaneous tissue, producing a characteristic honeycomb pattern. The tumor cells exhibited strong and diffuse positivity with CD34, establishing the diagnosis of DFSP.
Adult ; Dermatofibrosarcoma* ; Dermis ; Diagnosis ; Early Diagnosis ; Female ; Humans ; Subcutaneous Tissue