Síndrome de Seckel: relato de caso de uma rara condição genética / Seckel's Syndrome: case report of a rare genetic condition

O presente artigo objetivou relatar o caso clínico de uma paciente, sabidamente portadora de Síndrome de Seckel, em acompanhamento no ambulatório de endocrinologia e metabologia para avaliação de seu desenvolvimento. Trata-se de um estudo descritivo, do tipo relato de caso, que visou analisar as principais características clínicas apresentadas pela criança em questão e estabelecer comparativos com a literatura disponível até o momento. A paciente apresentou baixa estatura, baixo peso e dismorfismos clássicos desta alteração genética como nanismo, fronte curta, nariz proeminente com ponte e dorso elevados, face plana, orelhas pequenas e normoimplantadas e clinodactilia de 5 dedos. As manifestações evidenciadas neste relato de caso se assemelham àquelas retratadas na maioria dos estudos publicados. Ressalta-se o papel fundamental empenhado pelo conhecimento da doença, sobretudo no que tange à realização precoce do diagnóstico e ao estabelecimento do manejo multidisciplinar aos pacientes portadores da síndrome

Effect of Progesterone and Ionomycin on Domestic Cat Sperm Motility Patterns and Acrosome Reaction

This study was aimed at assessing the changes in sperm motion patterns and the percentage of acrosome reaction (AR) in domestic cat semen after treatment with either ionomycin or progesterone (P(4)). Ten ejaculates were collected from five tomcats using an artificial vagina, and were diluted, centrifuged and resuspended in a capacitation medium. Samples were evaluated and divided into seven equal aliquots and, after 2 h at 25 degrees C, were incubated for 30 min at 38 degrees C in 5% CO(2) and then analyzed. Computer-assisted sperm analysis and a combination of three fluorescent probes were used to assess sperm plasma, acrosomal membrane integrity and mitochondrial transmembrane potential. Thirty minutes after the start of incubation, P(4) was added (10 mu g/ml) to the P1 group. Groups P2 and P3 were supplemented with P(4) (10 and 20 mu g/ml, respectively) only after 2 h of incubation, and groups I1 and I2 were supplemented with ionomycin (4 and 8 mu M, respectively) 2 h after incubation. Group E was supplemented with ethanol (0.6%) at 2 h after incubation and group C received no supplementation. Ionomycin and P(4) treatments led to a hyperactivation-like sperm motion and an increase (p < 0.05) in the percentage of AR. Although a higher (p < 0.05) percentage of AR was obtained in group I2 when compared with all P(4) groups, a decrease (p < 0.05) in total and progressive motility was observed in I2 group. As I1 group was similar to I2 to induce AR without diminishing sperm motility, we can conclude that ionomycin at 4 mu M seems to be more suitable to trigger AR in domestic cat sperm

Effect of peanut addition to the cafeteria diet on adiposity and inflammation in zebrafish (Danio rerio)

Zebrafish (Danio rerio) emerged as a model of diet-induced obesity because of its genetic homology to humans. Peanut is a rich source of monounsaturated fatty acid and its consumption is associated with decreased inflammatory markers and obesity control. This study evaluated the effects of peanut addition to the cafeteria diet (CAF) by analysis of fatty acids into the head, adiposity and expression of TNF, IL6 and FASN genes using zebrafish as experimental model. The zebrafish were maintained in tanks for 60 days and treated with standard (ST) and CAF diets, respectively. The CAF diet increased the oleic acid content in zebrafish heads, however the body weight, body mass index, adipose tissue and expression of inflammatory and lipid metabolism genes did not differ between the groups. This study suggests that the addition of peanut in the CAF diet can control weight gain, the inflammatory markers and lipid metabolism in zebrafish model

Seminário: o desafio da implementação das políticas públicas

Debater sobre os desafios da incorporação dos temas transversais, relacionados a públicos específicos, nos processos de implementação de políticas públicas da Administração Pública FederalNúmero de páginas: 4 p.10 apresentações/slidesPolíticas Públicas e SociaisPalestras - Agendas Transversais no PPA 2012-2015; O papel dos Conselhos Nacionais na articulação das políticas transversais. - Painel 1 - Políticas para as Mulheres; Criança e Adolescente; Povos Indígenas. - Painel 2 - Juventude; População LGBT; Igualdade Racial, Comunidades Quilombolas e Povos e Comunidades Tradicionais. - Painel 3 - População em Situação de Rua; Pessoas com Deficiência; Pessoa Idos

Delayed colorectal cancer care during covid-19 pandemic (decor-19). Global perspective from an international survey

Background The widespread nature of coronavirus disease 2019 (COVID-19) has been unprecedented. We sought to analyze its global impact with a survey on colorectal cancer (CRC) care during the pandemic. Methods The impact of COVID-19 on preoperative assessment, elective surgery, and postoperative management of CRC patients was explored by a 35-item survey, which was distributed worldwide to members of surgical societies with an interest in CRC care. Respondents were divided into two comparator groups: 1) ‘delay’ group: CRC care affected by the pandemic; 2) ‘no delay’ group: unaltered CRC practice. Results A total of 1,051 respondents from 84 countries completed the survey. No substantial differences in demographics were found between the ‘delay’ (745, 70.9%) and ‘no delay’ (306, 29.1%) groups. Suspension of multidisciplinary team meetings, staff members quarantined or relocated to COVID-19 units, units fully dedicated to COVID-19 care, personal protective equipment not readily available were factors significantly associated to delays in endoscopy, radiology, surgery, histopathology and prolonged chemoradiation therapy-to-surgery intervals. In the ‘delay’ group, 48.9% of respondents reported a change in the initial surgical plan and 26.3% reported a shift from elective to urgent operations. Recovery of CRC care was associated with the status of the outbreak. Practicing in COVID-free units, no change in operative slots and staff members not relocated to COVID-19 units were statistically associated with unaltered CRC care in the ‘no delay’ group, while the geographical distribution was not. Conclusions Global changes in diagnostic and therapeutic CRC practices were evident. Changes were associated with differences in health-care delivery systems, hospital’s preparedness, resources availability, and local COVID-19 prevalence rather than geographical factors. Strategic planning is required to optimize CRC care