No abstract available.
Anemia* ; Humans* ; Kidney Failure, Chronic*

Idiopathic renal hypouricemia is a hereditary disease characterized by abnormally high renal uric acid clearance. A defect in the SLC22A12 genes, which encodes the renal uric acid transporter, URAT1, is the known major causes of this disorder. Most patients are clinically silent, but exercise-induced acute kidney injury, urolithiasis or hematuria may develop. The patient presented with azotemia, decreased urine output and abdominal pain without vigorous exercise past history. He was diagnosed with rapidly progressive glomerulonephritis at admission, but low serum uric acid level was persisted. Since the diagnosis of the patient was familial renal hypouricemia, we performed sequence analysis of the SLC22A12 gene in all family members. We report a case of 17-year-old boy with severe acute kidney injury with familial renal hypouricemia confirmed by genotyping of SLC22A12 .

Glass Fiber is manufactured from typical glass-making raw materials, silicon dioxide with various metals and other elements. There are three distinct types of commercial glass fiber products: glass wool, an entangled mass of interlocking fibers; continuous glass filament, a product with a more ordered arrangement of fibers; and special-purpose glass fiber, a small-diameter fiber (less than 3 um) . We report a case of glass fiber-induced health hazard due to continuous glass filament from fiber reinforced plastics (FRF) as car interior material. A 40 years old man complained a sudden onset of severe itching on whole body, especially neck and forearms while driving a new car. He also complained burning of eyes, sore throat and productive cough. We diagnosed the glass fiver-induced skin lesion by placing skin scraping on a slide glass and examining the specimen under a microscope. We found same fibers from the air samples in the car and from the material of the interior surface of the car by the microscopic examination. Therefore we confirmed that the patient's symptoms and signs were induced by glass fiber.
Adult ; Burns ; Cough ; Forearm ; Glass* ; Humans ; Metals ; Neck ; Nerve Fibers, Myelinated ; Pharyngitis ; Plastics ; Pruritus ; Silicon Dioxide ; Skin ; Wool

Fiberglass, as a substitute of asbestos, is used for more than 60 years as a insulator material. Health hazards including irritation of skin, mucosa and respiratory system associated with use of fiberglass is reported. Many studies on the fibrogenicity and carcinogenicity of fiberglass was conducted but evidence is not sufficient to confirm the carcinogenicity or fibrogenicity. Authors studied the health hazards among 152 inhabitants(71 men and 81 women) from 32 households living around the fiberglass factory which produced the fiberglass insulators and glasswool panels for 20 years. Questionnaire survey on household and persons, examination of underground water, pathologic examination of subcutaneous tumors and examination of fiberglass in tumor tissues were done. The results are as follows; 1. Fiberglass concentration of underground water sampled from 33 households in the study area was 13. 7-95. 9 fiber/cc with the diameter to length ratio more than 1:20. 2. Prevalence of dermatosis among study subjects was 23.0 % (35 cases). Prevalence was not associated with the distance from the factory nor duration of exposure. 3. There were 15 cases of subcutaneous tumor with prevalence of 9. 9 %. Age of subcutaneous tumor cases was all above 30 year-old except one cases, who was 5 year old child, who lived in the surveyed area since he was born. Prevalence of subcutaneous tumor was significantly high in area A(42.9 %) than area B(4.6 %, p<0.01). Prevalence of subcutaneous tumor was higher in long-term exposed inhabitants, but was not statistically significant. 4. Pathologic examination exhibits partly encapsulated fat tissue masses and cut surfaces were pale yellow with gritty sensation. The masses consist of mature fat cells showing variation in size and shape. On polarizing microscope, the peripheries of tumors include small irregular threads of doubly refractile material probably represent glass fibers in fibrocollagenous tissue. Concentration of fiberglass in tissue was 5.1-10.2 fiber/rag wet tissue in case 1, 25.8-184.9 fiber/mg wet tissue in case 2 and 40.8-126.5 fiber/mg wet tissue in case 3. Length of fiberglass was shorter than that in underground water. 5. Cases of malignant tumor among inhabitants since last 10 years were 4, 3 of whom was developed in a same household just near the factory. Diagnoses of malignancy cases were stomach cancer, stomach and esophageal cancer, oral cavity cancer, and stomach cancer with liver metastasis. On review examination of tissues of endoscopic biopsy specimen from a case of stomach cancer, there was adenocarcinoma with no evidence of fiberglass materials. Authors concluded there is evidences that fiberglass was strongly associated with the development of the health hazards including dermatosis and benign subcutaneous tumor. However, the association of fiberglass exposure with the development of malignant tumor was not clear, although strongly suggested. For the prevention of development of further health hazards, it is recommended that under ground water source should be closed and further experimental study to confirm the mechanism of the tumorigenesis and follow up survey on the inhabitants should be conducted.
Adenocarcinoma ; Adipocytes ; Adult ; Asbestos ; Biopsy ; Carcinogenesis ; Child ; Child, Preschool ; Diagnosis ; Epidemiologic Studies* ; Esophageal Neoplasms ; Family Characteristics ; Glass* ; Groundwater ; Humans ; Liver ; Male ; Mouth ; Mucous Membrane ; Neoplasm Metastasis ; Prevalence ; Respiratory System ; Sensation ; Skin ; Skin Diseases ; Stomach ; Stomach Neoplasms ; Surveys and Questionnaires

Leiomyosarcoma of the soft tissue is a well-defined and characteristic entity histologically, but cytomorphological studes are lacking. A correlaive cytological study of 2 cases of leiomyosarcoma is presented. The smears from case 1 were rich in tumor cells and most cells were arranged in large sheets or clusters. The cells showed round to oval nuclei containing fine chromatin and small promiment nucleoli. The smears from case 2 were moderate in cellularity with loose clusters or isolated cells. The characteristic blunt-ended and cigar-shaped nuclei containing coarse chromatin and prominent nucleoli were identified in case 2. Nuclear atypia, prominent nucleoli and high cellularity permit diagnosis of malignancy, although the atypia is generally less pronounced than in the histology. The cytological diagnosis of leiomyosarcoma may be auxiliary in the diagnosis of recurrence or metastasis in the patients with alleged leiomyosarcoma.
Child* ; Chromatin ; Diagnosis ; Dialysis* ; Humans ; Leiomyosarcoma ; Lipoproteins* ; Neoplasm Metastasis ; Recurrence

Human angiotensin converting enzymcC4CE) gene displays an insertion/deletion polymorphism in 16 intron, and three genotypes are determined by presence or absence of a 287-bp fragment of DNA; II, ID and DD genotype. DD genotype has been suggested as a risk factor of various cardiovascular diseases and chronic nephropathies such as IgA nephropathy and diabetic nephropathy. This study was designed to investigate if the ACE polymor-phism is related to the clinical and pathologic findings of minimal change nephrotic syndrome(MCNS) and focal segmental glomerulosclerosis(FSGS) in children. Ninety children with primary nephrotic syndrome(MCNS and steroid responsive nephrotic syndrome : 68 cases, FSGS; 22 cases) and 97 healthy normal controls were examined. The genotype for the polymorphism was determined by PCR method. The distribution of ACE genotypes in primary nephrotic syndrome(II 28.6%, ID 53.8%, DD 17.6%) was not different from that in controls(II 39.2%, ID 41.2%, DD 29.6%). The IJ genotype was more frequent in FSGS(II 64.7%, ID 23.5%, I)D 11.8%) than in MCNS and steroid responsive nephrotic syndrome(I 20.3%, ID 60.8%, DD 18.9%, p<0.03). The ACE genotypes were not associated either with frequency of relapse in MCNS or steroid responsive nephrotic syndrome or with presence of hypertension, responsiveness to steroid therapy and progression of renal dysfunction in FSGS. We concluded that deletion polymorphism of ACE gene is not associated with increased risk for renal progression in children with primary nephrotic syndrome.
Angiotensins* ; Cardiovascular Diseases ; Child* ; Diabetic Nephropathies ; DNA ; Genotype ; Glomerulonephritis, IGA ; Humans ; Hypertension ; Introns ; Nephrotic Syndrome* ; Peptidyl-Dipeptidase A* ; Polymerase Chain Reaction ; Recurrence ; Risk Factors

OBJECTIVES: Our objective is to review and summarize the previous studies on the health effects of exposure to oil spills in order to make suggestions for mid- and long-term study plans regarding the health effects of the Hebei Spirit oil spill occured in Korea. METHODS: We searched PubMed to systemically retrieve reports on the human health effects related to oil spill accidents. The papers' reference lists and reviews on the topic were searched as well. RESULTS: We found 24 articles that examined seven oil spill accidents worldwide over the period from 1989 to August 2008, including the Exxon Valdes, Braer, Sea Empress, Erika, Nakhodka, Prestige and Tasman Spirit oil spills. Most of the studies applied cross-sectional and short-term follow-up study designs. The exposure level was measured by assessing the place of residence, using a questionnaire and environmental and personal monitoring. Studies on the acute or immediate health effects mainly focused on the subjective physical symptoms related to clean-up work or residential exposure. Late or mid-term follow-up studies were performed to investigate a range of health effects such as pulmonary function and endocrine, immunologic and genetic toxicity. The economic and social impact of the accidents resulted in the socio-psychological exposure and the psychosocial health effects. CONCLUSIONS: Studies of the health effects of exposure to oil spills should consider a range of health outcomes, including the physical and psychological effects, and the studies should be extended for a considerable period of time to study the long-term chronic health effects.
*Accidents, Occupational ; *Environmental Exposure ; Fossil Fuels/*adverse effects/poisoning ; Hazardous Substances ; Humans ; *Water Pollution

We reviewed the clinical features, histrologic patterns and clinical courses of 30 children with lupus nephritis retrospectively, and the results were summerized as follows; 1) The male to female ratio was 1:2.8, and the mean age at the onset was 10 8/12 years. 2) The clinical symptoms were diverse, and malaise, weight loss, anorexia, fever and malar rash were the most frequent findings. 3) Among the immunologic tests, FANA and anti-ds-DNA test revealed the highest sensitivity with positive rates of 97% and 87%, respectively. 4) Clinically, 57% of patients had active nephrotic syndrome at the onset, and 33% showed (?) was the most common findings (70%). 5) During the follow-up period, one children with Class IV lupus nephritis expired. And 8 out of 9 cases with renal insufficiency at the onset showed improvement of renal function after treatment with corticosteroid and cytotoxic agents. In conclusion, the clinical features and histologic findings of lupus nephritis in children were diverse. Early diagnosis and proper treatment can prevent rapid deterioration of renal function and improve long-term survival rate.
Anorexia ; Child* ; Cytotoxins ; Early Diagnosis ; Exanthema ; Female ; Fever ; Follow-Up Studies ; Humans ; Immunologic Tests ; Lupus Nephritis* ; Male ; Nephrotic Syndrome ; Renal Insufficiency ; Retrospective Studies ; Survival Rate ; Weight Loss

There had been total 20 patients with early onset(4 months~2 years) primary nephrotic syndrome in the Department of Pediatrics, Seoul National University Children's Hospital, during the period from March 1987 to February 1993. We analysed clinical courses, response to treatment, pathological findings and prognosis of the patients And the results were as follows; 1) The initial responders to steroid treatment were 10(50%), of whom 3 became late nonresponders. Of the 10 initial nonresponders, 8 revealed continuing nonresponsiveness. 2) Incidence of hypertension was significantly higher in the intial nonresponders than in the initial responders. 3) Renal biopsies were performed in 9 initial nonresponders and 2 late nonresponders. And the results were 6 with minimal change lesion, 4 with focal segmental glomerulosclerosis and 1 with mesangiocapillary glomerulonephritis. 4) Six continuing or late nonresponders received methylprednisolone pulse therapy or cyclophosphamide. And partial remission was induced in 4 of them. 5) The overall 3 year maintenance rate of normal renal function was 81%(100% in the initial responders and 64% in the initial nonresponders). In conclusion, the initial steroid responsiveness and prognosis were poorer in patients with early onset nephrotic syndrome than in patients with usual childhood nephrotic syndrome.
Biopsy ; Cyclophosphamide ; Glomerulonephritis, Membranoproliferative ; Glomerulosclerosis, Focal Segmental ; Humans ; Hypertension ; Incidence ; Methylprednisolone ; Nephrotic Syndrome* ; Pediatrics ; Prognosis ; Seoul

We Reviewed 10 hypertensive children with pheochromocytoma retrospectively and the following results were obtained. 1) Out of 10 patients, 7 were male and 3 female. Age ranged from 5.5 years to 13.8 years and their median age was 9.9 years. 2) They complained of sweating, lethargy, headache. or chest pain and so on. Hypertension were noticed in all patients. Heart murmurs were detected in 7 patients and hypertensive retinopathy in 70%. 3) The three cases arised at extraadrenal gland and bilaterality was seen in 3 patients. In the view of diagnosis, abdominal sonography, computerized tomography and urine VMA test revealed the sensitivity of 100%. But MIBG scan showed 60% in sensitivity. 4) Waiting for operation, their hypertension were controlled by adrenergic blockers or calcium channel blockers. They received tumorectomy successfully except one who was in hypertensive state after operation and followed up through OPD. In conclusion high suspicion for the existence of pheochromocytoma from the clinical manifestations should be entertained in any pediatric patients and biochemical and imaging studies were mandatory. Furthermore, for the accurate localization of tumors, several imaging studies should be collaborated.
3-Iodobenzylguanidine ; Adrenergic Antagonists ; Calcium Channel Blockers ; Chest Pain ; Child* ; Diagnosis ; Female ; Headache ; Heart Murmurs ; Humans ; Hypertension ; Hypertensive Retinopathy ; Lethargy ; Male ; Pheochromocytoma* ; Retrospective Studies ; Sweat ; Sweating