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.

Post-Renal Transplantation Bone Health in Children Evaluated by Means of Quantitative Ultrasound and Densitometry.

BACKGROUND: Patients with end-stage renal disease develop bone mineral disease, which is not always resolved after a successful renal transplantation; moreover, some of the immunosuppressants used to prevent graft rejection may affect bone health. The aim of this study was to evaluate bone health in post-renal transplantation children with the use of quantitative ultrasound (QUS) and dual-energy X-ray absorptiometry (DXA). METHODS: A descriptive study was performed in children >3 months after renal transplantation and with stable function of graft. Radial QUS and DXA (lumbar spine and total body less head (TBLH) were performed on the same day. RESULTS: A total of 35 patients were included. Mean age was 13.9 ± 3.9 years. Ten subjects had total bone density score <2 (28.5%), 4 a lumbar spine (L1-L4) Z-score of <2 (11.4%) as well as TBLH <2, and 6 subjects had a radial QUS Z-score of <2 (17.1%), and only 2 of them had concomitant Z-score <2 with the use of DXA. There was a positive non-significant correlation between TBLH and radial QUS Z-scores (Pearson r = 0.317; P = .016) and a positive significant correlation of DXA lumbar spine and radial QUS Z-scores (Pearson r = 0.452; P = .014). CONCLUSIONS: Despite a good correlation between TBLH and QUS Z-scores, there are subjects that can be considered normal by QUS and have osteopenia by TBLH DXA and vice versa; this could be due to the different bone areas evaluated.

A Scheduled Program of Molecular Screening for Epstein-Barr Virus Decreases the Incidence of Post-transplantation Lymphoproliferative Disease in Pediatric Liver Transplantation.

This is a cohort, retrospective, comparative study of all liver transplant recipients from a single center, from May 1998 to July 2015. Patients were divided into two groups according to the type of Epstein-Barr viral load monitoring. For group I (1998-2007), polymerase chain reaction (PCR) was not available or it was only qualitative with limited access. For group II (2008-2015), we used periodically scheduled quantitative PCR in plasma and leukocytes, with aggressive tapering of immunosuppression as soon as viral replication was detected. Ninety-eight recipients were included, 41 (41.8%) were Epstein-Barr virus (EBV) - seronegative before liver transplantation (LT). EBV replication was confirmed in 74 patients (75.5%), being more frequent in seronegative (87.8%) than seropositive patients (66.6%). Eight recipients (8.1%) developed post-transplantation lymphoproliferative disorder (PTLD) on average at 14.3 months post-LT, seven of eight were <3 years at LT, four of eight were D+/R- for EBV, and all had post-LT EBV replication confirmed by PCR. PTLD was classified as lymphoma (n = 4), polymorphic polyclonal (n = 3), and lymphoid hyperplasia (n = 1). Five patients died, and three cleared PTLD after immunosuppression tapering or interruption. There were no significant differences in the etiology, age at LT (5.6 vs. 7.3 years, P = .069), patients <4 years (53.2% vs. 35.3%, P = .103), or EBV seronegative recipients (44.7% vs. 37.3%, P = .54); however, the incidence of PTLD decreased from 14.9% to 1.9% (P = .026), and graft rejection from 51.1% to 29.4% (P = .039). One- and 5-year patient survival rates were 94.7% and 85%, respectively, with no differences between groups. This strategy dramatically decreased the incidence of PTLD (14.9% vs. 1.9%), without increasing the incidence of rejection; therefore, we recommend that it should be used in the follow-up of all pediatric LT recipients.

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.

Should a complex uropathy be a contraindication for renal transplantation in children?

BACKGROUND: Anatomic and functional disorders of the lower urinary tract represent up to 40% of the causes of renal failure in children. Several centers avoid renal transplantation in these patients because of the high risk of complications and lower graft survival. The aim of this work was to determine the frequency of urinary tract abnormalities (UTAs) among our pediatric series, and to compare the frequency of complications, function, and long-term graft survival among patients without versus with UTA. METHODS: This single-center, retrospective study compared outcomes between pediatric recipients with versus without UTA. We analyzed demographic features, etiology, pretransplant protocol, urinary tract rehabilitation, incidence of complications, rejection events, as well as graft function and survival. RESULTS: Among 328 pediatric cases performed between 1998 and 2008, we excluded nine patients due to incomplete medical records, analyzing 319 procedures in 312 patients. Sixty-seven patients (21%) had UTA. The average age, weight, and height at the time of grafting were significantly lower in the urologic group: 11.1 versus 12.6 years, 28.8 versus 34.4 kg; 125.4 versus 138.4 cm, respectively. There were significantly higher frequencies of a transperitoneal approach and vena cavae and aortic anastomoses among patients with UTA (P < .001), posing a greater technical challenge in this population. No differences in creatinine levels were observed at 0.5, 1, 2, 5, and 10 years: 1.3 versus 1.6 at 5 years, and 1.4 versus 1.5 at 8 years. Urologic complications, including urinary tract infections (UTIs), occurred among 80.6% of patients with UTA versus 42.1% in the non-UTA group (P < .001). UTIs appeared predominantly in patients with UTA (62.7% vs 35.3%, P < .001), representing a 2.7-fold risk compared with those children transplanted for other reasons. Rejection incidence was similar in both groups (49.8%). There was no significant difference in 5-y (89.8% vs 85%) or 10-year (83% vs 67%) graft survivals between the groups (P = .162). CONCLUSION: Our results demonstrated that with proper interdisciplinary care, graft and patient survivals of pediatric recipients with UTAs were not affected; therefore, these patients should not be rejected for transplantation.

[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.