Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis. In the vision gene panel analysis, variants in genes known to cause inherited eye disorders were assessed for pathogenicity. If no causative variants were detected and when the patient consented, the entire exome data was analyzed. A total of 266 Dutch patients with different types of inherited eye disorders, including inherited retinal dystrophies, cataract, developmental eye disorders and optic atrophy, were investigated. In the vision gene panel analysis (likely), causative variants were detected in 49% and in the exome analysis in an additional 2% of the patients. The highest detection rate of (likely) causative variants was in patients with inherited retinal dystrophies, for instance a yield of 63% in patients with retinitis pigmentosa. In patients with developmental eye defects, cataract and optic atrophy, the detection rate was 50, 33 and 17%, respectively. An exome-sequencing approach enables a genetic diagnosis in patients with different types of inherited eye disorders using one test. The exome approach has the same detection rate as targeted panel sequencing tests, but offers a number of advantages. For instance, the vision gene panel can be frequently and easily updated with additional (novel) eye disorder genes. Determination of the genetic diagnosis improved the clinical diagnosis, regarding the assessment of the inheritance pattern as well as future disease perspective

Vergleichende Untersuchungen ueber das Brandverhalten von Lueftungsleitungen nach DIN 4102 Teil 6 (Sept. 1977) und Dok. ISO TC 92/SC 2 WG 4 N 59 Pruefverfahren fuer Lueftungsleitungen

TIB: RN 5905 (1365) / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEDEGerman

Emergência de Haematobia Irritans nas massas fecais de bovinos das raças Nelore e Pantaneira no pantanal mato-grossense Emergence of Haematobia Irritans in feces of Nelore and Pantaneira breed in the pantanal mato-grossense, Brazil

Este trabalho foi realizado na Fazenda Nhumirim de propriedade da Embrapa-Centro de Pesquisa Agropecuária do Pantanal, em Corumbá, MS, no período de 11/93 a 05/94, com coletas mensais de massas fecais de bovinos das raças Nelore e Pantaneira, com o objetivo de comparar o número de moscas-do-chifre nas duas raças e determinar qual das duas exerce maior atração sobre a mosca-do-chifre (Haematobia irritans). De 112 fezes bovinas recolhidas de cada raça, observou-se que em Nelore, 107 (95,5%) massas fecais apresentavam pupas de dípteros, e apenas 72 (64,3%) tinham pupas de H. irritans; na raça Pantaneira, das 105 (94,0%) massas fecais com pupas de dípteros apenas 60 (53,6%) apresentavam H. irritans. Os resultados das medições comparativas dos parâmetros comprimento, largura, diâmetro, altura e volume entre as massas fecais demonstraram que não houve diferença significativa (P>0,05). O número de pupas de dípteros coletadas nas massas fecais de bovinos da raça Pantaneira (n=2892) foi maior do que em Nelore (n=1715) (P<0,05). Em relação à H. irritans, observou-se maior número de pupas nas massas fecais de bovinos da raça Pantaneira (n=399) (P<0,05) do que em Nelore (n=237). As massas fecais dos Pantaneiros apresentavam também maior (P<0,05) número total de pupas por volume de fezes. Os resultados indicam que os bovinos da raça Pantaneira exercem maior atração sobre a mosca-do-chifre.<br>This study was carried out at Nhumirim farm, property of Embrapa-Centro de Pesquisa Agropecuária do Pantanal, Corumbá, MS, Brazil, from 11/93 to 05/94, with manure samples of Nelore and Pantaneira breeds collected to compare the number of horn flies (Haematobia irritans) on manure samples of both bovine breeds. Out of the 112 bovine samples collected from each breed, 72 (64.3%) Nelore manure samples showed pupa of H. irritans; in Pantaneira, out of 105 (94%) manure samples with fly pupas, only 60 (53.6%) exhibited H. irritans. The results of comparative measurements of length, width, height and volume parameters among the manure samples, showed no significant difference (t test - P>0.05) between Nelore and Pantaneira breeds. The number of fly pupas collected from the manure samples of Pantaneira breed (n=2892) was higher than in Nelore breed (n=1715) (P<0.05). With relation to H. irritans, a higher number of pupas was observed in the manure samples of Pantaneira breed (n=399)(P<0.05) than in Nelore breed (n=237). The manure samples of Pantaneira also presented a higher (P<0.05) total number of pupas by feces volume. The Pantaneira breed showed higher attraction to horn flies

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Contains fulltext : 174726.pdf (publisher's version ) (Open Access)Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis. In the vision gene panel analysis, variants in genes known to cause inherited eye disorders were assessed for pathogenicity. If no causative variants were detected and when the patient consented, the entire exome data was analyzed. A total of 266 Dutch patients with different types of inherited eye disorders, including inherited retinal dystrophies, cataract, developmental eye disorders and optic atrophy, were investigated. In the vision gene panel analysis (likely), causative variants were detected in 49% and in the exome analysis in an additional 2% of the patients. The highest detection rate of (likely) causative variants was in patients with inherited retinal dystrophies, for instance a yield of 63% in patients with retinitis pigmentosa. In patients with developmental eye defects, cataract and optic atrophy, the detection rate was 50, 33 and 17%, respectively. An exome-sequencing approach enables a genetic diagnosis in patients with different types of inherited eye disorders using one test. The exome approach has the same detection rate as targeted panel sequencing tests, but offers a number of advantages. For instance, the vision gene panel can be frequently and easily updated with additional (novel) eye disorder genes. Determination of the genetic diagnosis improved the clinical diagnosis, regarding the assessment of the inheritance pattern as well as future disease perspective

Flórula ruderal da cidade de Lavras, MG Ruderal plants from Lavras, MG

Efetuou-se o levantamento e a identificação das plantas ruderais ocorrentes na cidade de Lavras, MG. Foram identificadas 175 espécies, representando 122 gêneros, pertencentes a 41 famílias. As famílias. Compositae, Leguminosae, Graminese, Malvaceae, Convolvulaceae, Cyperaceae, Euphorbiaceae e Amaranthaceae, são as que apresentaram o maior número de espécies. O material foi coletado em áreas ajardinadas, beiras de caminhos, calçadas, muros e cercas, e em terrenos baldios.<br>A survey and identification of ruderal plants occuring in Lavras City, state of Minas Gerais, Brazil, was carried out. One hundred and seventy five species, representing 122 genera belonging to 41 families were indentified. Families Compositae, Leguminosae, Gramineae, Malvaceae, Convolvulaceae, Cyperaceae, Euphorbiaceae, and Amaranthaceae presented the greatest numbers of species among all families. All plant materials were collected in garden areas, along roadsides and streets, walls and fences, and wastelands