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

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

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

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

A digital mucous cyst (DMC) is clinically characterized by a round to oval, translucent, smooth nodule localized to the dorsal aspect of the distal digits near the distal interphalangeal joint. It usually presents as a solitary lesion, and multiple lesions are uncommon. An 88-year-old man presented with herpetiform translucent papules on the right thumb. We first diagnosed the lesion as molluscum contagiosum or herpetic whitlow. Histopathology showed a cystic space containing mucinous material and numerous fibroblasts surrounded by mucinous stroma in the upper dermis. The lining of the cyst wall was not apparent and mucinous material was stained with Alcian blue, indicating a diagnosis of DMC.
Aged, 80 and over ; Alcian Blue ; Chlorobenzenes ; Dermis ; Fibroblasts ; Humans ; Joints ; Molluscum Contagiosum ; Mucins ; Thumb

Calvarial bone grafting in craniomaxillofacial trauma and facial reconstructive surgery is now widely recognized and accepted as a standard procedure. One of the commonly reported problems of calvarial bone graft is the contour defect caused by partial resorption of the graft. But, there are few reports that discuss the fate of the calvarial bone graft based on the quantitative data. In this article, the changes of grafted calvarial bone were evaluated using 3-dimensional computed tomography(CT). 9 patients were observed with the CT scans at 2mm thickness immediately after operation and at the time of last follow-up. The area of the bone defect was segmented on the 3-dimensional CT image and calculated by AnalyzeDirect 5.0 software. The immediate postoperative bone defect area of the recipient site and the donor site were 612.9mm2 and 441.5mm2, respectively, which became 1028.1mm2 and 268.8mm2, respectively at the last follow-up. In conclusion, the bone defect area was less increased on the donor site of calvarial bone graft than on the recipient site. And the CT scan is a valuable imaging method to assess and follow-up the clinical outcome of calvarial bone grafting.
Bone Transplantation ; Follow-Up Studies ; Humans ; Tissue Donors ; Tomography, X-Ray Computed ; Transplants*

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

Several clinical variants of bullous pemphigoid have been described (e.g. generalized, vesicular, nodular, polymorphic, vegetans, and localized). Dyshidrosiform pemphigoid is an unusual form of the localized variant of bullous pemphigoid, and was first described in 1979. It presents with a localized, persistent, vesicobullous eruption similar to dyshidrosiform dermatitis. Herein, we report a case of dyshidrosiform pemphigoid which presented with bullae localized to both the palms and soles.
Dermatitis ; Pemphigoid, Bullous*