16 research outputs found

    Geocoding rural addresses in a community contaminated by PFOA: a comparison of methods

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    BACKGROUND: Location is often an important component of exposure assessment, and positional errors in geocoding may result in exposure misclassification. In rural areas, successful geocoding to a street address is limited by rural route boxes. Communities have assigned physical street addresses to rural route boxes as part of E911 readdressing projects for improved emergency response. Our study compared automated and E911 methods for recovering and geocoding valid street addresses and assessed the impact of positional errors on exposure classification. METHODS: The current study is a secondary analysis of existing data that included 135 addresses self-reported by participants of a rural community study who were exposed via public drinking water to perfluorooctanoate (PFOA) released from a DuPont facility in Parkersburg, West Virginia. We converted pre-E911 to post-E911 addresses using two methods: automated ZP4 address-correction software with the U.S. Postal Service LACS database and E911 data provided by Wood County, West Virginia. Addresses were geocoded using TeleAtlas, an online commercial service, and ArcView with StreetMap Premium North America NAVTEQ 2008 enhanced street dataset. We calculated positional errors using GPS measurements collected at each address and assessed exposure based on geocoded location in relation to public water pipes. RESULTS: The county E911 data converted 89% of the eligible addresses compared to 35% by ZP4 LACS. ArcView/NAVTEQ geocoded more addresses (n = 130) and with smaller median distance between geocodes and GPS coordinates (39 meters) than TeleAtlas (n = 85, 188 meters). Without E911 address conversion, 25% of the geocodes would have been more than 1000 meters from the true location. Positional errors in TeleAtlas geocoding resulted in exposure misclassification of seven addresses whereas ArcView/NAVTEQ methods did not misclassify any addresses. CONCLUSIONS: Although the study was limited by small numbers, our results suggest that the use of county E911 data in rural areas increases the rate of successful geocoding. Furthermore, positional accuracy of rural addresses in the study area appears to vary by geocoding method. In a large epidemiological study investigating the health effects of PFOA-contaminated public drinking water, this could potentially result in exposure misclassification if addresses are incorrectly geocoded to a street segment not serviced by public water

    Height and pancreatic cancer risk: A systematic review and meta-analysis of cohort studies

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    Background Greater height has been associated with increased risk of several cancers, but epidemiological data on height and pancreatic cancer are inconclusive. We conducted a systematic review and meta-analysis of prospective studies to clarify these results. Methods PubMed and several other databases were searched up to September 2011. Prospective studies of height and pancreatic cancer were included. Summary relative risks were estimated by the use of a random effects model. Results We identified twelve cohort studies that were included in the meta-analysis. The summary RR per 5-cm increase in height was 1.07 (95 % CI: 1.03-1.12, I2 = 57 %). The results were similar among men and women. The summary estimate was attenuated when we included results from two pooled analyses together with these studies, summary RR = 1.03 (95 % CI: 1.00-1.07, I2 = 44 %). Conclusions This meta-analysis of cohort studies provides further evidence that greater adult attained height is associated with increased pancreatic cancer risk. However, given the unexplained heterogeneity, further studies are needed before a conclusion can be drawn

    Importance Of The Clinical Genetics Evaluation On Hydrocephalus [importância Da Avaliação Genético-clínica Na Hidrocefalia]

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    The aim of this study was to characterize the possibility of genetic etiology in a group of individuals with congenital hydrocephalus in which the etiology was indeterminate and to confirm that earlier diagnosed. The casuistry was composed by 16 individuals with congenital hydrocephalus. Investigation protocol included anamnesis, familial investigation, physical examination, computerized tomography or magnetic resonance image of head, vertebral column X-ray, karyotype and dysmorphological study. Results were analyzed in two groups. In Group I (3M:9F) was composed by hydrocephalus associated with unspecific signs. Group II (7 males) had findings of epectrum of L1 disease. Genetic counseling could be offered in 11 cases. These results demonstrate the great etiological heterogeneity of congenital hydrocephalus and reinforce the importance of dysmphology evaluation as an important complementary investigation.622 B480486Salomão, M.A., (2000) Estudo Sobre Hidrocefalias Congênitas em um Hospital Universitário Brasileiro, , Dissertação de Mestrado, UNICAMP. 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(1997) J Obstet Gynecol Neonatal Nurs, 26, pp. 405-413McDermott, S., Callaghan, W., Szwejbka, L., Mann, H., Daguise, V., Urinary tract infections during pregnancy and mental retardation and developmental delay (2000) Obstet Gynecol, 96, pp. 113-119McDermott, S., Daguise, V., Mann, H., Szwejbka, L., Callaghan, W., Perinatal risk for mortality and mental retardation associated with maternal urinary-tract infections (2001) J Fam Pract, 50, pp. 433-437Quan, L., Smith, D.W., The Vater association, vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: A spectrum of associated defects (1973) J Pediatr, 82, p. 104Sujansky, E., Leonard, B., VACTERL association with hydrocephalus: A new recessive syndrome? (1983) Am J Hum Genet, 35, pp. 119ABriad, M.L., Le Mener, Plauchu, H., Association VACTERL et hydrocephalie: Une nouvelle entite familiale (1984) Ann Genet, 27, pp. 220-223Wang, H., Hunter, A.G.W., Clifford, B., McLaughlin, M., Thompson, D., VACTERL with hydrocephalus: Spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked inheritance (1983) Am J Med Genet, 47, pp. 114-117Froster, U.G., Wallner, S.J., Reusche, E., Schwinger, E., Rehder, VACTERL with hydrocephalus and branchial arch defects: Prenatal, clinical, and autopsy findings in two brothers (1996) Am J Med Genet, 62, pp. 169-172Lomas, F.E., Dahlstrom, J.E., Ford, J.H., VACTERL with hydrocephalus: Family with X-Linked VACTERL-H (1998) Am J Med Genet, 76, pp. 74-78Halladay, J., Chow, C.W., Wallace, D., Danks, D.M., X linked hydrocephalus: A survey of a 20 year period in Victoria, Australia (1986) J Med Genet, 23, pp. 23-31Verhagen, W.I.M., Bartels, R.H.A.M., Fransen, E., Van Camp, G., Renier, W.O., Grotenhuis, J.A., Familial congenital hydrocephalus and aqueduct stenosis with probably autosomal dominant inheritance and variable expression (1998) J Neurol Sci, 158, pp. 101-105Vincent, C., Kalatzis, V., Compain, S., A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia: Implications for the mapping of the BOR gene (1994) Hum Mol Genet, 3, pp. 1859-1866Kaplan, P., X-linked recessive inheritance of agenesis of the corpus callosum (1983) J Med Genet, 20, pp. 122-124Fransen, E., Van Camp, G., D'Hooge, R., Vits, L., Willems, P.J., Genotype-phenotype correlation in L1 associated diseases (1998) J Med Genet, 35, pp. 399-404Parisi, M.A., Kapur, R.P., Neilson, I., Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease? 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    Doença celíaca associada à tireoidite de Hashimoto e síndrome de Noonan Celiac disease associated with Hashimoto's thyroiditis and Noonan syndrome

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    OBJETIVO: Relatar o caso clínico de uma criança portadora de doença celíaca, tireoidite de Hashimoto e síndrome de Noonan. DESCRIÇÃO DE CASO: Menina de dez anos e seis meses, branca, apresentando história de diarreia líquida há cinco meses e "aumento da barriga". Ao exame, mostrava peso de 20.580g (p<3), estatura de 114cm (p<3), hidratada, descorada 2+/4+ e consciente. Presença de fácies triangular, com hipertelorismo ocular aparente, posição antimongoloide das fendas palpebrais, orelhas em abano de baixa implantação, micrognatia, pescoço curto e pectus excavatum. O abdome mostrava-se globoso, flácido, indolor, com hérnia umbilical, fígado a 2cm do rebordo costal direito, linfedema em membro superior direito e edema de membros inferiores. Nos exames subsidiários, havia anemia microcítica e hipocrômica, déficit de proteínas totais, tireoidite de Hashimoto e atraso de cinco anos na idade óssea. Na ultrassonografia abdominal, as alças intestinais estavam levemente dilatadas. Devido ao linfedema e à diarreia crônica, a hipótese inicial foi de linfangiectasia intestinal, confirmada pela biópsia jejunal, que ainda mostrou padrão compatível de doença celíaca. O cariótipo foi 46XX com diagnóstico clínico de síndrome de Noonan. COMENTÁRIOS: As doenças autoimunes se associam; no caso apresentado, a doença celíaca se associou à tireoidite de Hashimoto, possivelmente pela presença de antígenos do sistema HLA. Já a associação de doença celíaca à síndrome de Noonan é muito rara, sendo este o terceiro relato na literatura.<br>OBJECTIVE: To describe the clinical case of a child with celiac disease, Hashimoto's thyroiditis and Noonan syndrome. CASE DESCRIPTION: A Caucasian girl aged ten years and six months had liquid diarrhea for five months, and a "distended belly". At the physical exam: weight of 20,580g (p<3), length of 114cm (p<3), hydrated, anemic 2+/4+ and conscious. The patient presented triangular facies, apparent ocular hypertelorism, antimongoloid position of the palpebral fissures, ears with low implantation, micrognathia, short neck and pectus excavatum. The abdomen was globular, flaccid and painless; the liver was 2cm below the right costal margin. Lymphedema in right upper limb and lower limb edema was also noted. Laboratory exams showed microcytic and hypochromic anemia, deficit of total proteins, Hashimoto's thyroiditis and a 5-year delay in bone age. Abdominal ultrasonography showed the bowel slightly dilated. Due to lymphedema and chronic diarrhea, the initial hypothesis was intestinal lymphangiectasis, which was confirmed by a jejunal biopsy, which also showed celiac disease. The genetic evaluation revealed a 46XX karyotype and a clinical diagnosis of Noonan syndrome. COMMENTS: Different autoimmune diseases can be associated. In this case, the celiac disease and the Hashimoto's thyroiditis are possibly related to the presence of HLA system antigens. However, the association of the celiac disease with the Noonan syndrome is very rare, and this is the third report in the literature

    Importância da avaliação genético-clínica na hidrocefalia Importance of the clinical genetics evaluation on hydrocephalus

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    Os objetivos deste estudo foram caracterizar a presença de possíveis quadros de etiologia genética entre portadores de hidrocefalia congênita de etiologia não anteriormente esclarecida e confirmar aqueles com etiologia identificada previamente. A casuística compôs-se de 16 pacientes portadores de hidrocefalia congênita. O protocolo de investigação incluiu anamnese, investigação de história familial, exame clínico-dismorfológico, tomografia computadorizada ou ressonância magnética de sistema nervoso central, radiografia vertebral simples, cariótipo e estudo dismorfológico. Para análise dos resultados, a casuística foi dividida em dois grupos. O Grupo I (3M:6F) caracterizado por indivíduos com hidrocefalia e sinais clínicos inespecíficos; o Grupo II (7M), em que os indivíduos apresentavam hidrocefalia congênita e sinais sugestivos do espectro da doença L1. Orientação genética específica foi possível em 11 casos. Os resultados demonstram a heterogeneidade etiológica envolvida na hidrocefalia, evidenciando a necessidade de avaliação clínico-dismorfológica como instrumento complementar na investigação dessa condição clínica.<br>The aim of this study was to characterize the possibility of genetic etiology in a group of individuals with congenital hydrocephalus in which the etiology was indeterminate and to confirm that earlier diagnosed. The casuistry was composed by 16 individuals with congenital hydrocephalus. Investigation protocol included anamnesis, familial investigation, physical examination, computerized tomography or magnetic resonance image of head, vertebral column X-ray, karyotype and dysmorphological study. Results were analyzed in two groups. In Group I (3M:9F) was composed by hydrocephalus associated with unspecific signs. Group II (7 males) had findings of epectrum of L1 disease. Genetic counseling could be offered in 11 cases. These results demonstrate the great etiological heterogeneity of congenital hydrocephalus and reinforce the importance of dysmphology evaluation as an important complementary investigation
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