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

BACKGROUND: Through a genome-wide search using the genetic markers(RFLP genetic markers), the familial hypertrophic cardiomyopathy(FHCM) with an autosomal dominant mode of inheritance has been firstly detected to be genetically linked to chromosome 14q1. The subsequent studies have shown that the point mutations at the exons encoding for the head and head /rod junction of the cardiac beta myosin heavy chain(beta-MHC) are the most frequent type of mutation in the FHCM families genetically implicated with a linkage to beta-MHC, whereas the alpha/beta-MHC hybrid gene and a large deletion at the 3' region of beta-MHC gene were also rarely detected. With the other families genetically implicated with the chromosomes 1,11,15,16 and 18, FHCM also manifests locus heterogeneity, a phenomenon in which abnormalities at different genes are involved in different families. In addition, a korean FHCM family with 403Arg-->Gln mutation of beta-MHC gene has been previously found by an american research group. METHODS: For clinical diagnosis, echocardiography and electrocardiography were performed on the individual members of a korean FHCM family. The microsatellite markers(MYO-I,MYO-II) located in the beta-MHC gene region were amplified by PCR(polymerase chain reaction) and the polymorphism was analyzed for the possible linkage to the phenotypic expression of FHCM. Independently, the same PCR products of the exons 13 and 23 were digested with the specific restriction enzymes for the presence of the most frequently reported point mutations of beta-MHC gene (403 and 908 amino acid mutations). Single strand conformation polymorphism(SSCP) of the exon 13 and 23 of the beta-MHC gene was also analyzed of the mobility shift expected if any point mutation is present at these two exons. RESULTS: The inheritance pattern of HCM(hypertrophic cardiomyopathy) in the family is considered as autosomal dominant. In this family(KU 101), one of the microsatellite markers(MYO-II) indicated the possible cosegregation between the allele was also present in the 32-year-old brother of the proband, who reveals no clinical signs of the disease. The other microsatellite genetic marker(MYO-I) was uninformative, without giving the discriminating power to verify the linkage to beta-MHC gene. In the analysis for two common mutations of beta-MHC gene by PCR-RFLP and PCR-SSCP, no evidence was found for 403 and 908 amino acid mutations and any point mutation in the exons 13 and 23. CONCLUSIONS: Based on the linkage analysis using microsatellite genetic markers, there was a possibility that the disease could be linked to an abnormality in the beta-MHC gene of the chromosome 14q1.
Adult ; Alleles ; Cardiomyopathy, Hypertrophic, Familial* ; Diagnosis ; Echocardiography ; Electrocardiography ; Exons ; Genetic Markers ; Head ; Humans ; Inheritance Patterns ; Mass Screening* ; Microsatellite Repeats ; Point Mutation ; Polymerase Chain Reaction ; Population Characteristics ; Siblings ; Ventricular Myosins* ; Wills

BACKGROUND: Through a genome-wide search using the genetic markers(RFLP genetic markers), the familial hypertrophic cardiomyopathy(FHCM) with an autosomal dominant mode of inheritance has been firstly detected to be genetically linked to chromosome 14q1. The subsequent studies have shown that the point mutations at the exons encoding for the head and head /rod junction of the cardiac beta myosin heavy chain(beta-MHC) are the most frequent type of mutation in the FHCM families genetically implicated with a linkage to beta-MHC, whereas the alpha/beta-MHC hybrid gene and a large deletion at the 3' region of beta-MHC gene were also rarely detected. With the other families genetically implicated with the chromosomes 1,11,15,16 and 18, FHCM also manifests locus heterogeneity, a phenomenon in which abnormalities at different genes are involved in different families. In addition, a korean FHCM family with 403Arg-->Gln mutation of beta-MHC gene has been previously found by an american research group. METHODS: For clinical diagnosis, echocardiography and electrocardiography were performed on the individual members of a korean FHCM family. The microsatellite markers(MYO-I,MYO-II) located in the beta-MHC gene region were amplified by PCR(polymerase chain reaction) and the polymorphism was analyzed for the possible linkage to the phenotypic expression of FHCM. Independently, the same PCR products of the exons 13 and 23 were digested with the specific restriction enzymes for the presence of the most frequently reported point mutations of beta-MHC gene (403 and 908 amino acid mutations). Single strand conformation polymorphism(SSCP) of the exon 13 and 23 of the beta-MHC gene was also analyzed of the mobility shift expected if any point mutation is present at these two exons. RESULTS: The inheritance pattern of HCM(hypertrophic cardiomyopathy) in the family is considered as autosomal dominant. In this family(KU 101), one of the microsatellite markers(MYO-II) indicated the possible cosegregation between the allele was also present in the 32-year-old brother of the proband, who reveals no clinical signs of the disease. The other microsatellite genetic marker(MYO-I) was uninformative, without giving the discriminating power to verify the linkage to beta-MHC gene. In the analysis for two common mutations of beta-MHC gene by PCR-RFLP and PCR-SSCP, no evidence was found for 403 and 908 amino acid mutations and any point mutation in the exons 13 and 23. CONCLUSIONS: Based on the linkage analysis using microsatellite genetic markers, there was a possibility that the disease could be linked to an abnormality in the beta-MHC gene of the chromosome 14q1.
Adult ; Alleles ; Cardiomyopathy, Hypertrophic, Familial* ; Diagnosis ; Echocardiography ; Electrocardiography ; Exons ; Genetic Markers ; Head ; Humans ; Inheritance Patterns ; Mass Screening* ; Microsatellite Repeats ; Point Mutation ; Polymerase Chain Reaction ; Population Characteristics ; Siblings ; Ventricular Myosins* ; Wills

No abstract available.
Child* ; Humans ; Nephrotic Syndrome*

To estimate the manganese (Mn, below) exposure of workers in the ferromanganese manufacture factory and to evaluate its health effects, airborne, blood and urine Mn concentration measurements, questionnaire and other neurologic examinations were performed on 80 Mn-handing productive male workers (exposed group), 47 non-Mn-handling productive male workers (internal control group) and 144 productive male workers in other factory (external control group). The results obtained were as follows; The highest airborne Mn fume concentration among the work process was found at charging (0.42 mg/m3), and ferromanganese crushing process (1.14 mg/m3) was the highest in Mn dust. However all of them were below threshold limit value. Mean Mn concentrations in blood and urine of crushing workers were higher than those of other part workers. Among all of them, workers whose urine Mn concentration were exceed normal reference level (10 microgram/l) were 31 (18.5%). There was statistically significant correlation between airborne and urine Mn concentration (r=0.60), and so between airborne and blood Mn concentration (r=0.49), while there was no statistically significant correlation between blood and urine Mn concentration. Mean Mn concentration in airborne (0.60 mg/m3), urine (6.92 microgram/l) and blood (3.16 microgram/dl) in exposed group were significantly higher than those of control groups (p<0.01). Clinical symptoms such as excessive sweating, hypoesthesia, libido change, anosmia, decreased visual acuity and difficulty in writing showed higher positive rate in exposed group. Positive rate of clinical signs such as eye blinking and masked face in exposed group was higher than external control group. However clinical and laboratory findings such as blood pressure, blood chemistry, grip strength in exposed group were not statistically different from those of control groups. The results suggested that further studies were followed to evaluate the workers whose blood Mn concentration were below normal reference level but urine Mn concentrations above normal reference level, and to establish the questionnaire and the diagnostic tools to detect the Mn poisoning workers early.
Blinking ; Blood Pressure ; Chemistry ; Dust ; Hand Strength ; Humans ; Hypesthesia ; Libido ; Male ; Manganese* ; Masks ; Neurologic Examination ; Olfaction Disorders ; Poisoning ; Questionnaires ; Sweat ; Sweating ; Visual Acuity ; Writing

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

No abstract available.
Child ; Humans ; Kidney Failure, Chronic ; Peritoneal Dialysis, Continuous Ambulatory*