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

Divided nevus of the eyelids is a rare form of congenital melanocytic nevus that involves the upper and lower eyelids of one eye. About 34 cases in both children and adults at present have been reported, but no case of divided nevus of the eyelids has previously been reported in the literature so far in Korea. A 12-year-old girl presented with a congenital divided nevus of the upper and lower lid. The histology of the pigmented plaque on the lower lid was confirmed to be that of a benign compound nevus. We, herein, report a case of divided nevus of the eyelids.
Adult ; Child ; Eyelids* ; Female ; Humans ; Korea ; Nevus* ; Nevus, Pigmented

BACKGROUNDS: There have been controversies about the association between essential tremor (ET) and Parkinson's disease. To examine the nigrostriatal dopaminergic neurons in patients with ET, we measured the striatal dopamine transporter levels with [123I] N-(3-iodopropene-2-yl)-2?-carbomethoxy-3?-(4-chlorophenyl) tropane(IPT) single photon emission computed tomography (SPECT). METHODS: This study included nine patients with postural tremor, six patients with postural and rest tremor, 11 patients with idiopathic Parkinson's disease, and 21 age matches controls. Using triple headed gamma camera, brain SPECT scans were performed at 115 and 120 minutes after the injection of 6.23?1.37mCi(range 5-10mCi) of I123 labeled IPT. We averaged two images. Regions of interest were drawn on the middle set image at the level of basal ganglia (BG) for each subject. Amounts of striatal dopamine transporter were measured by calculating the ratio between the average counts of the basal ganglia minus occipital cortex (OCC) and the counts of the OCC((BG-OCC)/OCC). RESULTS: The mean of (BG-OCC)/OCC ratios of 9 isolated postural tremor patients (3.60?0.83) was not statistically different from that of the controls (P>0.05). However, the mean of (BG-OCC)/OCC ratios of 4 patients with postural and rest tremor (2.61?0.18) was significantly lower than that of the controls (P<0.01). Four of the six patients with postural and rest tremor had mean ratios lower than 2.0 standard deviations from the mean of the controls. CONCLUSION: In their later clinical courses, some patients with postural tremor may develop rest tremor in association with a damage in the nigrostriatal dopaminergic system.
Basal Ganglia ; Brain ; Dopamine Plasma Membrane Transport Proteins* ; Dopamine* ; Dopaminergic Neurons ; Essential Tremor* ; Gamma Cameras ; Head ; Humans ; Parkinson Disease* ; Tomography, Emission-Computed, Single-Photon ; Tremor

The amniotic band syndrome is rare congenital deformity, presumably due to rupture of amniotic sac during the early pregnancy and appears to cause fetal injury through deformation, malformation, or disruption. This syndrome is given many names yet follows a clearly defined clinical pattern. The diagnosis was based on sonographic visualization of either amniotic bands or bands associated with fetal deformation or deformities in nonembryologic distribution. Recently, we experienced a case of amniotic band syndrome, in which partial absence of cranial bone, asymmetric facial dysmorphism and amputation of right lower leg were detected. At our best knowledge, this is one of few case describing prenatal ultrasound diagnosis of amniotic band syndrome in Korea. So, we present this case with a brief review of the literatures.
Amniotic Band Syndrome* ; Amputation* ; Congenital Abnormalities* ; Diagnosis ; Infant, Newborn ; Korea ; Leg* ; Pregnancy ; Rupture ; Ultrasonography

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