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

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

Intraperitoneal foreign body is a rare but extremely troublesome condition. Such as forceps, rubber tubes, pieces of broken instruments can retained during surgery but most commonly foreign body is the surgical sponge. The retained foreign body produce intra-abdominal abscess, peritonitis, intestinal obstruction in the postoperative period or even after weeks, months or years and very uncommonly migrate into the bowel. We report a case of intracolonic surgical sponge misdiagnosed as retained intraperitoneal foreign body with brief review of literatures.
Abdominal Abscess ; Foreign Bodies* ; Intestinal Obstruction ; Peritonitis ; Postoperative Period ; Rubber ; Surgical Instruments ; Surgical Sponges*

Congenital leukemia is a rare condition diagnosed at birth to 6 weeks of life with an estimated incidence of 4.7 per million live births. In a review, about 25~30% of cases were well documented as leukemia cutis. We report a case of a 3-month-old infant presented with asymptomatic multiple erythematous to bluish patches and nodules, which had developed about two months ago. Biopsy of the cutaneous lesions revealed immature cells which are overall monotonous with large kidney shaped nucleus, prominent nucleoli and moderate cytoplasm. These atypical cells stained positive for leukocyte common antigen, lysozyme and CD68. With this result, a congenital leukemia cutis was diagnosed. Six months later, she underwent cord blood stem cell transplantation. Seven months after the cord blood stem cell transplantation, the bone marrow examination revealed a normal result. Leukemia can be presented in the skin, the eruption may be nonspecific and it may precede systemic involvement. The recognition is important because early diagnosis can lead to appropriate treatment, followed by better prognosis.
Antigens, CD45 ; Biopsy ; Bone Marrow Examination ; Cord Blood Stem Cell Transplantation ; Cytoplasm ; Early Diagnosis ; Humans ; Incidence ; Infant ; Kidney ; Leukemia ; Live Birth ; Muramidase ; Parturition ; Prognosis ; Skin

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*