SHORT syndrome in an adult Brazilian patient.

We report an individual from Brazil with SHORT syndrome. The term SHORT stands for its common characteristics: short stature (S), hyperextensibility of joints, and/or inguinal hernia (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). In addition to most of the clinical signs previously described in SHORT syndrome, the patient presented here also shows microcephaly and intellectual disability. Diagnosis was confirmed by exome sequencing revealing a novel heterozygous variant c.1456G>A (p.Ala486Thr) at PIK3R1. Human recombinant growth hormone (r-hGH) therapy was administered prior to diagnosis; however, the use of r-hGH may have had a role in anticipating and worsening the glucose metabolic profile in the patient, as previously described. This article contributes to providing a better understanding of the SHORT syndrome genotype and its correlation with the phenotype, by comparing with it other reported cases.

Subfamily hypostominae: similarities and differences in testicular structure of amazonian fish.

BACKGROUND: Hypostominae is a subfamily of the family Loricariidae that has a great diversity of species. Accordingly, testicular studies in fish can contribute to the phylogeny and taxonomy of species and to the comparison of reproductive aspects between species. Thus, this work aimed to characterize the testicular morphology and spermatogenesis of the Hypostominae species Baryancistrus xanthellus, Peckoltia oligospila and Hypancistrus zebra. RESULTS: B. xanthellus, P. oligospila and H. zebra had an anastomosed tubular type of testis. The germinal epithelium was continuous with unrestricted spermatogonia, and the proliferative, meiotic and spermiogenic phases were defined in all species. In the spermiogenic phase, spermatids were classified as initial, intermediate and final. Only in B. xanthellus in the final phase was there nuclear rotation. The sperm for the three species had a head with an oval shape and a single flagellum composed of the short midpiece, principal piece and end piece. B. xanthellus and P. oligospila showed a cylindrical flagellum and H. zebra showed projections that produced a flattened appearance. CONCLUSIONS: On the basis testicular structure and ultrastructural characteristics of the germ cells, there was a greater relationship between B. xanthelus and P. oligospila, while H. zebra had particular characteristics. These aspects show that despite belonging to the same subfamily, the species have distinct biological characteristics.

Oogenesis and expression of PCNA and vitellogenin in Geophagus native to the Amazon basin in pre- and post-hydroelectric dam periods.

Oogenesis in fish is a process that involves cell proliferation, growth and maturation. In rivers blocked by hydroelectric dams, these factors can be altered and affect the reproduction mechanism of the species. Regarding this scenario, the present study aimed to describe oogenesis in two cichlids native to the Amazon basin, Geophagus argyrostictus and G. altifrons, during pre- and post-dam periods of the Xingu River. Females of both Geophagus species were captured and biometric measurements were taken. Afterwards, the fish were euthanized, and the gonads were removed and subjected to histological processing for light microscopy, scanning electron microscopy and immunoperoxidase staining. Oocyte diameter and zona radiata thickness were also measured. The ovaries appeared in pairs, where according to their shape, size, vascularization and cell organization, five stages were described for both species. In the post-dam period, there was a reduction in the mean diameter of the oocytes, especially type IV, and a decrease in the thickness of the zona radiata, mainly, in G. argyrostictus. In both species, there was a greater presence of oocyte atresia in the post-dam period. PCNA immunoreactivity was more intense in type I and II oocytes, while vitellogenin immunoreactivity occurred in the cytoplasm and follicular cells of oocytes III and IV. These data suggest that because of changes in the level/flow of the river, the gonads of these two species adjust to the new environment, with a decrease in mean diameter and zona radiata thickness of the oocytes, which can interfere with the reproduction of the animals.

Dental Students' Performance in Detecting In Vitro Occlusal Carious Lesions Using ICDAS with E-Learning and Digital Learning Strategies.

The aim of this study was to assess the performance of dental students for detecting in vitro occlusal carious lesions using the International Caries Detection and Assessment System (ICDAS) with different learning strategies. A convenience sample of all 64 fourth-year dental students at a dental school in Brazil who had no previous experience with ICDAS was selected for the study in 2015. First, students performed the in vitro examination of the occlusal surfaces of 80 teeth according to ICDAS. Two weeks later, students were randomly allocated to three groups: G1 (n=21), ICDAS e-learning; G2 (n=22), ICDAS e-learning + digital learning tool (DLT); G3 (n=21), no training (control group). All students reexamined the 80 teeth according to ICDAS two weeks later. Sensitivity, specificity, and area under the ROC curve (AUC) were calculated according to three thresholds. Of the 64 students, 59 completed all study phases, for a 92.2% participation rate. The intra-group comparison found significantly higher sensitivity and specificity values for G1 and G2 students. G3 students showed an increased sensitivity at the D2 threshold. G2 was the only training strategy that resulted in significant improvement for the AUC. In the comparison of groups at the same threshold, G1 showed higher specificity at D3 threshold (0.78) than G2 (0.72) and G3 (0.73). Regarding sensitivity, G1 showed a lower value at D2 (0.91) threshold than G2 (0.94) and G3 (0.94). In this study, both training strategies (ICDAS e-learning and ICDAS e-learning + DLT) improved the performance of dental students for the in vitro detection of occlusal carious lesions, mainly when the association of methods was used.

Algumas características do setor privado de saúde de Salvador, Bahia, Brasil / Characteristics of private health care services in Salvador, Bahia, Brazil

Descreve algumas características dos serviços de saúde privados do Município de Salvador. Realizou-se inquérito envolvendo 174 estabelecimentos cadastrados no IBGE. Foram investigados a natureza jurídica, a capacidade instalada ambulatorial e hospitalar, a produçäo e o custo das consultas médicas segundo modalidades de financiamento público e privado. As diferentes formas de assistência médica supletiva säo a principal fonte de financiamento da assistência ambulatorial, e 51,1 por cento das unidades investigadas säo independentes dos recursos públicos oriundos do Sistema Unico de Saúde (SUS). Os convênios-empresa e o seguro saúde stricto sensu participaram de forma moderada e elevada do financiamento das consultas médicas, em 54 por cento e 41,9 por cento dos serviços respectivamente. Os autores discutem o significado das modificaçöes verificadas no segmento privado da atençäo à saúde de Salvador, bem como as implicaçöes desses achados no que diz respeito ao redimensionamento das estratégias de reorganizaçäo das práticas e serviços de saúde no país e de relacionamento entre o público e o privado.

Avaliaçäo da atençäo à saúde através da investigaçäo de óbitos infantis / Evaluation of health care by means of infant death investigation

Foram investigados todos os óbitos de crianças menores de um ano residentes no Distrito Sanitário de Pau da Lima, Município de Salvador, Brasil, no ano de 1991, através de consultas aos respectivos prontuários hospitalares e visitas domiciliares. O estudo visava a aferir a efetividade dos serviços de saúde por meio da verificaçäo de óbitos potencialmente evitáveis e o grau de adequaçäo dos cuidados médicos prestados às crianças. De um total de 47 óbitos, observou-se que mais da metade dos mesmos ocorreu por causas vulneráveis à açäo oportuna dos serviços de saúde, e que 21,3 por cento dos óbitos ocorreram em via pública e domicílios. Houve 76,6 por cento de perdas de informaçäo nas entrevistas com as mäes, atribuídas a problemas de preenchimento incompleto ou incorreto da Declaraçäo de Obito, e por mudanças de endereço. A pesquisa dos prontuários nas unidades de saúde registrou perda de 58,3 por cento, revelando o baixo grau de organizaçäo das estatísticas hospitalares; prevaleceram atendimentos classificados como pouco adequados e inadequados, principalmente nos itens exame físico e tratamento. Apesar das limitaçöes operacionais do estudo, os resultados apontam problemas de acesso, efetividade e adequaçäo do processo de assistência à saúde.

A importancia da mastoplastia reducional reconstrutiva na formaçäo do mastologista / The importance of the reconstructive reduction mammaplasty in the background of the mastologist

O profissional médico que busca especializar-se em Mastologia deve ter um conhecimento global da mama incluindo os aspectos funcionais, nosológicos, psicológicos, sociais, sexuais e estéticos, e esta abordagem completa da mama implica no conhecimento de técnicas cirúrgicas que permitam, preferencialmente, manter as mamas o mais estético possível com funcionalidade. O objetivo deste trabalho é mostrar como essa abordagem é feita, para o aprendizado destas técnicas. Diversas técnicas de abordagem foram utilizadas: Pitanguy (P), Gerardo Peixoto (GP), 5º Pedículo de Liacir Ribeiro (LR), Periareolar a Sampaio Góes (SG). A classificaçao das mamas segundo Bozzola serviu para optarmos por uma ou outra técnica. Foram 26 cirurgias realizadas em pacientes com média de 28 anos de idade. A queixa mais freqüente foi de mamas grandes e dor nas costas. O peso médio retirado foi de 540 g e o maior volume foi de 2.000 g. A maioria das mamas com segmento AM negativo de 0-4 foi operada por técnica de P (15 casos). Houve 2 casos de infecçao. Somente uma paciente teve tecido normal; as demais, alateraçoes fibrocísticas e adenose. O aprendizado de técnicas de mastoplastia reducional permite ao neófito da Mastologia um domínio da abordagem da mama, permitindo-lhe ressecar segmentos mamários quando necessários preservando sua funcionalidade e estética.