Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients.

Laron's syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like growth factor type 1 (IGF1) signaling pathway defect. The number of LS patients worldwide is unknown, as many are probably undiagnosed. We report two sibs from a consanguineous family from Minas Gerais, southeastern Brazil. The parents have three children. The older, a 4-years-old girl was 80.2 cm tall (-5.7 SDS height/age), and the youngest sister, aged 3 years, was 73.2 cm tall (-5.82 SDS height/age). Their clinical and biochemical features are typical of LS patients, such as high serum level of GH and low IGF1 concentrations. A homozygous c.1A>T nucleotide substitution in GHR exon 2 in the probands' samples was identified. Their parents and healthy sister are heterozygous for the same variant that abolishes the translation initiation codon of GHR. This mutation has not been reported in Brazilian patients and was previously associated with an LS phenotype in a single 29-year-old Spanish man. In addition to this case report, we summarize the main characteristics and molecular data of the 21 LS Brazilian patients who have been published to date.

Parameters from the community of leaf-litter frogs from Estação Ecológica Estadual Paraíso, Guapimirim, Rio de Janeiro State, southeastern Brazil

We studied the leaf-litter frog community of Estação Ecológica Estadual Paraíso, in Guapimirim, Rio de Janeiro State, southeastern Brazil. Herein we combined three sampling methods (large plots, visual encounter surveys and pit-fall traps) to present data on species composition, richness, relative abundance and densities. The local assemblage of frogs associated to the leaf-litter was composed by 14 species, belonging to nine families. Haddadus binotatus, a direct-developing frog, was the most abundant species in the community. The estimated density of the local leaf-litter frog assemblage based on plot sampling was 4.3 frogs/100 m². Haddadus binotatus had the highest density (1.1 ind/100 m²). Frogs were predominantly found at night. Thoropa miliaris had the largest values of SVL (39.0 ± 10.3 mm), whereas the smallest species were Euparkerella brasiliensis (16.7 ± 2.2 mm) and E. cochranae (16.0 ± 2.7 mm). Rhinella ornata had the highest mean body mass (12.1 ± 7.5 g), and E. cochranae the lowest (0.4 ± 0.2 g). The overall frog mass was 938.6 g/ha. Our data support that higher densities of leaf-litter frogs tend to occur in the Neotropical region compared to the OldWorld tropics, tending to be higher in Central America than in South America.

Estudamos a comunidade de anuros de folhiço da EstaçãoEcológica Estadual Paraíso, em Guapimirim, estado do Rio de Janeiro, no sudeste do Brasil. Combinamos três métodosde amostragem (plots, transectos e armadilhas de queda) para apresentar dados sobre a composição de espécies, riqueza,abundância relativa e densidade. A assembleia local foi composta por 14 espécies de anuros, pertencentes a nove famílias. Haddadus binotatus, espécie de desenvolvimento direto, foi a mais abundante durante o estudo. A densidade de anuros de folhiço estimada com base na amostragem por plots foi de4,3 ind/100m². Haddadus binotatus apresentou a maior densidade (1,1 ind/100m²). Os anuros foram registrados predominantemente durante a noite. Thoropa miliaris apresentou os maiores valores de CRC (39,0 ± 10,3 mm). As menores espécies foram Euparkerella brasiliensis (16,7 ± 2,2 mm) e E. cochranae (16,0 ± 2,7mm). Rhinella ornata apresentou a maior massa corporal média (12,1 ± 7,5 g) e E. cochranae (0,4 ± 0,2 g) a menor. A massa média total foi de 938,6 g/ha. Nossos resultados corroboram com a tendência de maiores densidades de anuros de folhiço na região Neotropical quando comparado com áreas Tropicais do Velho Mundo, tendendo a serem maiores na América Central do que na América do Sul.

Parameters from the community of leaf-litter frogs from Estação Ecológica Estadual Paraíso, Guapimirim, Rio de Janeiro State, southeastern Brazil.

We studied the leaf-litter frog community of Estação Ecológica Estadual Paraíso, in Guapimirim, Rio de Janeiro State, southeastern Brazil. Herein we combined three sampling methods (large plots, visual encounter surveys and pit-fall traps) to present data on species composition, richness, relative abundance and densities. The local assemblage of frogs associated to the leaf-litter was composed by 14 species, belonging to nine families. Haddadus binotatus, a direct-developing frog, was the most abundant species in the community. The estimated density of the local leaf-litter frog assemblage based on plot sampling was 4.3 frogs/100 m(2). Haddadus binotatus had the highest density (1.1 ind/100 m(2)). Frogs were predominantly found at night. Thoropa miliaris had the largest values of SVL (39.0 ± 10.3 mm), whereas the smallest species were Euparkerella brasiliensis (16.7 ± 2.2 mm) and E. cochranae (16.0 ± 2.7 mm). Rhinella ornata had the highest mean body mass (12.1 ± 7.5 g), and E. cochranae the lowest (0.4 ± 0.2 g). The overall frog mass was 938.6 g/ha. Our data support that higher densities of leaf-litter frogs tend to occur in the Neotropical region compared to the OldWorld tropics, tending to be higher in Central America than in South America.

[Production of scientific papers by nurses from public and private hospitals in the district of Sao Paulo]. / Produção científica publicada pelas enfermeiras de hospitais públicos e privados do município de São Paulo.

This study shows the nurse's scientific publication from seven public and six private hospitals in São Paulo city, from january/1989 to june/1995. From a total of 486 papers identified, 242 were published as abstracts, 124 in annals, 92 in nationals and international journals, 21 as book chapters and 7 as books in nursing. The facilities and difficulties in publishing nursing scientific production were also discussed.

Displasia de quadril em áreas endêmicas / Hip dysplasia in endemic regions

Os autores relatam os resultados observados em pesquisa de D.Q., realizada em uma populaçao de 517 R.N. da Maternidade de HEUCS, no período de outubro de 1991 até maio de 1992, com o intuito de comprovar a suspeita de que a populaçao de Caxias do Sul poderia ser mais afetada em virtude de ser, na sua maioria, integrada por descendentes de habitantes de uma área dita endêmica. Foram detectadas D.Q. em 3 dos 517 R.N. (0,58 por cento) determinando uma incidência significativamente alta da patologia, da ordem de 1 para cada 172 nascimentos. Além dessa incidência, relatam ainda o relacionamento dessa entidade com fatores conhecidamente implicados na sua gênese, tais como o sexo e a apresentaçao fetal.