Technical note: Influence of feed on image quality of abdominal ultrasonography in New Zealand white kits

[EN] The aim of this study was to evaluate the influence of feed change on image quality of ultrasound scanning of the gallbladder, kidney and jejunum in New Zealand White kits. Thirty-nine 35-day-old rabbits were used, distributed into 4 diet groups: C, only commercial feed; CH, commercial feed and hay; C24H, only commercial feed, replaced by hay 24 h before examination; and CH24H, commercial feed and hay, with the commercial feed withdrawn 24 h before the exam. The rabbits received the diet for 42 d (from 35 to 77 d of age) and the ultrasound evaluations were performed on days 56 and 77. Ultrasonographic assessment for image quality focused on the possibility of visualisation and an image quality rating (3 scores: unacceptable, acceptable or excellent) for the gallbladder, kidneys and jejunum. The kidneys were visualised in 100% of animals of all diets and ages. There was no difference in visualisation (P>0.05) of the gallbladder among the animals fed different diets on days 56 and 77. The C24H diet had a higher visualisation possibility (P<0.05) of the jejunum compared to the C and CH diets on day 77. For the image quality score, there was no difference in the studied organs on day 56. However, on day 77, there was a difference for the jejunum (P<0.05), and only the C24H and CH24H diets presented images classified as excellent. In conclusion, the image quality of the kidneys and gallbladder was unaffected by feed, and the jejunum had an improved image quality with the inclusion of hay and without the commercial feed 24 h before the test in New Zealand White rabbits at 77 d of age.Silva, KG.; Andrade, C.; Costa, LB.; Sotomaior, CS. (2017). Technical note: Influence of feed on image quality of abdominal ultrasonography in New Zealand white kits. World Rabbit Science. 25(4):339-343. doi:10.4995/wrs.2017.6821SWORD33934325

Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome

The Peutz-Jeghers syndrome (PJS) is an autosomal-dominant hamartomatous polyposis syndrome characterized by mucocutaneous pigmentation, gastrointestinal polyps and the increased risk of multiple cancers. The causative point mutation in the STK11 gene of most patients accounts for about 30% of the cases of partial and complete gene deletion. This is a report on a girl with PJS features, learning difficulties, dysmorphic features and cardiac malformation, bearing a de novo 1.1 Mb deletion at 19p13.3. This deletion encompasses at least 47 genes, including STK11. This is the first report on 19p13.3 deletion associated with a PJS phenotype, as well as other atypical manifestations, thereby implying a new contiguous gene syndrome

Desafios e impacto da educação em saúde associada a cinesioterapia laboral para a promoção da saúde em servidores do estado do Paraná

Introdução: A Fisioterapia atua na saúde do trabalhador pela promoção e prevenção a saúde. Diversos recursos podem ser utilizados para tal finalidade, como a educação em saúde e a cinesioterapia laboral. Objetivo: Verificar os desafios e os efeitos da educação em saúde associada a cinesioterapia laboral sobre a qualidade de vida, percepção da saúde e dor musculoesquelética em servidores públicos do Estado do Paraná. Metodologia: Trata-se de um estudo experimental desenvolvido por meio da disciplina de Habilidades Fisioterapêuticas. Foram aplicados questionários para avaliação da qualidade de vida (SF-36), percepção da saúde e dor musculoesquelética (Nórdico). A prática de educação em saúde foi realizada por meio de cartilhas informativas e foi associada a cinesioterapia laboral. As atividades foram realizadas na Procuradoria Geral do Estado do Paraná uma vez por semana, totalizando 12 encontros. A comparação dos momentos pré e pós intervenção foi realizada pelos testes de Wilcoxon e Qui-Quadrado. Resultados: A análise dos dados evidenciou que grande parte dos servidores melhorou os domínios de capacidade funcional e dor da qualidade de vida e a percepção da saúde. A maior queixa de dor lombar e apresentou redução de sua prevalência após o experimento. Conclusão: O grande desafio da atividade proposta foi a aderência e participação dos servidores. Apesar disso, os servidores que participaram ativamente do programa de educação em saúde com a cinesioterapia laboral evidenciaram efeitos positivos sobre a qualidade de vida, percepção da saúde e dores musculoesqueléticas, sendo estas sugeridas como uma ferramenta importante para a promoção da saúde de servidores

Cystic Fibrosis Gene Variability in Two Southern Brazilian Amerindian Populations: Analysis of the ΔF508 Mutation and the KM19 and XV2C Haplotypes

The frequencies of the ΔF508 deletion, the most common cystic fibrosis mutation in Europeans and European-derived populations, and the XV2C and KM19 restriction fragment length polymorphisms that are tightly linked to the CFTR locus vary among populations. To determine the distribution of these extragenic markers and of the ΔF508 mutation, we analyzed 326 chromosomes of individuals from two South American Indian populations, the Guarani and the Kaingang. The allele and haplotype frequencies differed greatly between the two populations as well as among Amerindians and normal European Brazilians and European Brazilian cystic fibrosis patients. The absence of the ΔF508 mutation and the B haplotype are in agreement with the hypothesis that the ΔF508 mutation occurred after the divergence of these two populations. This finding is useful for populations containing a large Amerindian component and helps us to understand the origins of the ΔF508 deletion, the most common cystic fibrosis mutation in Europeans and European-derived populations, as well as the different incidences of cystic fibrosis in continental groups

Supplementary Material for: Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects

<b><i>Background:</i></b> Thyroid cancer is the most common endocrine gland malignancy. Advances in understanding the genetic basis for thyroid cancer revealed the potential involvement of several genes in the formation of thyroid tumors. Mutations in the gene coding for succinate dehydrogenase subtype B <i>(SDHB)</i> have been implicated in papillary thyroid cancer (PTC). Succinate dehydrogenase (SDH) is a heterotetrameric protein composed of four subunits, <i>SDHA,</i><i>SDHB,</i><i>SDHC,</i> and <i>SDHD,</i> and participates in both the electron transport chain and the tricarboxylic acid cycle. The aim of the study was to evaluate the association between variants in the <i>SDHA,</i><i>SDHB,</i><i>SDHC,</i> and <i>SDHD </i>genes and familiar PTC in a large Brazilian family. <b><i>Method:</i></b> Four patients with PTC, 1 patient with PTC and gastrointestinal stromal tumor (GIST), 1 patient with GIST, and their relatives - several of them with different thyroid problems - from a large Brazilian family were screened for genetic variations of <i>SDHx</i> genes with the use of polymerase chain reaction-single-stranded conformational polymorphism and direct sequencing. <b><i>Results:</i></b> Only one rare variation in <i>SDHA</i> was found in some of the family members, but not segregating with the disease. No other genetic variants of these genes were detected in the family members that presented with PTC and/or GIST. <b><i>Conclusion:</i></b> Familiar PTC and a GIST were not associated with <i>SDHx </i>mutations; additional genetic defects, yet unknown, may be responsible for the development of tumor