Prenatal diagnosis of critical congenital heart disease associated with lower postpartum depressive symptoms: a case-control study.

OBJECTIVE: When the expectant mother is faced with an unforeseen event during pregnancy, she may experience emotional fragility and depression. This study was carried out to test the association between the time of diagnosis of critical congenital heart disease (CCHD) and depressive symptoms in puerperal women. METHOD: A case-control study. All mothers answered a semi-structured questionnaire and the Edinburgh Postnatal Depression Scale (EPDS). Pearson's correlation and multiple linear regression analysis were used to determine factors associated with depression. RESULTS: 50 puerperal women, 23 cases and 27 controls. The proportion of puerperal depressive symptoms was 26.1 % among mothers of infants prenatally diagnosed with CCHD and 77.8 % among mothers of infants postnatally diagnosed (p = 0.001 [OR] 9.917; 95 % CI 2.703-36.379). Multiple linear regression analysis showed that the use of psychotropic drugs and time of diagnosis were significantly associated with puerperal depressive symptoms. CONCLUSION: Prenatal diagnosis of CCHD was associated with significantly lower levels of depressive symptoms.

Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.

Low-pass whole genome sequencing (LP-WGS) has been applied as alternative method to detect copy number variants (CNVs) in the clinical setting. Compared with chromosomal microarray analysis (CMA), the sequencing-based approach provides a similar resolution of CNV detection at a lower cost. In this study, we assessed the efficiency and reliability of LP-WGS as a more affordable alternative to CMA. A total of 1363 patients with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies were enrolled. Those patients were referred from 15 nonprofit organizations and university centers located in different states in Brazil. The analysis of LP-WGS at 1x coverage (>50kb) revealed a positive testing result in 22% of the cases (304/1363), in which 219 and 85 correspond to pathogenic/likely pathogenic (P/LP) CNVs and variants of uncertain significance (VUS), respectively. The 16% (219/1363) diagnostic yield observed in our cohort is comparable to the 15%-20% reported for CMA in the literature. The use of commercial software, as demonstrated in this study, simplifies the implementation of the test in clinical settings. Particularly for countries like Brazil, where the cost of CMA presents a substantial barrier to most of the population, LP-WGS emerges as a cost-effective alternative for investigating copy number changes in cytogenetics.

Omphalocele: clinical and epidemiological profile of patients born in a tertiary care center in Rio de Janeiro.

BACKGROUND: The objective of this paper is to describe the clinical and epidemiological profile and the early outcomes of patients with omphalocele born in a fetal medicine, pediatric surgery, and genetics reference hospital in Rio de Janeiro - Brazil. To determine its prevalence, describe the presence of genetic syndromes, and congenital malformations, emphasizing the characteristics of congenital heart diseases and their most common types. METHODS: Using Latin-American Collaborative Study of Congenital Malformations (ECLAMC) database and records review, a retrospective cross-sectional study was performed, including all patients born with omphalocele between January 1st, 2016, and December 31st, 2019. RESULTS: During the period of the study, our unity registered 4,260 births, 4,064 were live births and 196 stillbirths. There were 737 diagnoses of any congenital malformation, among them 38 cases of omphalocele, 27 were live born, but one was excluded for missing data. 62.2% were male, 62.2% of the women were multiparous and 51.3% of the babies were preterm. There was an associated malformation in 89.1% of the cases. Heart disease was the most common (45.9%) of which tetralogy of Fallot was the most frequent (23.5%). Mortality rate was 61.5%. CONCLUSIONS: Our data showed a good correspondence with the existing literature. Most patients with omphalocele had other malformations, especially congenital heart disease. No pregnancy was interrupted. The presence of concurrent defects showed a huge impact on prognosis, since, even if most survived birth, few remained alive and received hospital discharge. Based on these data, fetal medicine and neonatal teams must be able to adjust parents counseling about fetal and neonatal risks, especially when other congenital diseases are present.

Interdisciplinary Group Intervention on Nutritional Profile, Quality of Life, and Stress During Cardiopulmonary Rehabilitation: A Randomized Clinical Trial

Abstract Background: Participating in therapeutic operative groups with nutritional and psychological interventions might influence the recovery of patients in cardiopulmonary rehabilitation programs. Objective: To evaluate the effectiveness of group interventions on the nutritional profile, stress, and quality of life of patients in cardiopulmonary rehabilitation. Methods: In this randomized clinical trial, adult patients of the Cardiopulmonary and Metabolic Rehabilitation (CPMR) unit were randomized into control group (CG), receiving standard follow-up assessment by the CPMR unit, and intervention group (IG), which additionally participated in 6 meetings of an interdisciplinary group with a nutritionist and a psychologist. Anthropometric data and results from a food frequency questionnaire (FFQ), Lipp's Inventory of Stress Symptoms for Adults (ISSL), and the 12-Item Short Form Health Survey (SF-12) were analyzed. Student's t-tests, Generalized Estimation Equations (GEE), Mann-Whitney tests, and Bonferroni tests were used for statistical analyses, with a significance level of 5%. Results: The sample consisted of 76 patients: 31 in the IG (64±9.2 years old) and 45 in the CG (61.4±11.8 years old). There was a significant reduction (p<0.001) in weight, body mass index, and waist circumference, and an increase (p=0.010) in the consumption of healthy food only in the IG. The consumption of unhealthy food was reduced in both groups (p<0.001), the physical aspect of quality of life improved (p=0.018), and women presented better physical (p=0.011) and mental results (p=0.008). Conclusions: This group intervention was effective regarding the nutritional status of patients in cardiopulmonary rehabilitation. The physical aspect of quality of life showed improvements in both groups.

O efeito do ácido ascórbico tópico na cicatrização cutânea / The effect of topical ascorbic acid on cutaneous healing

Introdução: A ferida cirúrgica apresenta altos níveis de radicais livres em resposta ao dano cutâneo, o que gera a hipótese de um possível benefício do uso de antioxidantes no reparo destas feridas, tal como a aplicação tópica do ácido ascórbico. No entanto, pesquisas recentes obtiveram conclusões discrepantes para este tipo de tratamento. O objetivo é avaliar o efeito do ácido ascórbico tópico na cicatrização cutânea por meio de uma revisão de escopo. Métodos: A revisão de escopo foi realizada na base de dados Medline, Lilacs e Cochrane, com os descritores: ácido ascórbico, creme para a pele e cicatrização de feridas. Foram definidos como critérios de inclusão: ensaios clínicos randomizados, observacionais e revisões sistemáticas, em humanos, com data de publicação de até 5 anos, nas línguas inglesa, portuguesa ou espanhola. Foram excluídas: revisões narrativas, dissertações, teses, editoriais, estudos in vitro e em animais. Por fim, foi realizada a classificação dos estudos através da metodologia GRADE. Resultados: Foram encontrados 83 estudos e, após triagem, seis artigos foram selecionados. Destacou-se o uso do ácido ascórbico na concentração de 5 a 20% e de seus derivados (0,075% a 9,55%). Apresentaram a qualidade GRADE moderada os desfechos: aumento da firmeza cutânea e redução da vermelhidão, e alta qualidade: melhora na hidratação, elasticidade, colorometria das manchas e melhora do fechamento das feridas. Conclusão: O ácido ascórbico promove melhor elasticidade cutânea, diminuição do eritema e melhor fechamento das feridas. Apesar destes fortes indícios, ensaios clínicos randomizados com menor risco de viés de aferição e com maior casuística ainda se fazem necessários.

Introduction: The surgical wound has high levels of free radicals in response to skin damage, which raises the hypothesis of a possible benefit from using antioxidants in repairing these wounds, such as the topical application of ascorbic acid. However, recent research has found conflicting conclusions about this type of treatment. The objective is to evaluate the effect of topical ascorbic acid on skin healing through a scope review. Methods: The scope review was carried out in the Medline, Lilacs and Cochrane databases, with the descriptors: ascorbic acid, skin cream, and wound healing. Inclusion criteria were defined as randomized clinical trials, observational and systematic reviews, in humans, with a publication date of up to 5 years, in English, Portuguese or Spanish. The following were excluded: narrative reviews, dissertations, theses, editorials, in vitro and animal studies. Finally, the studies were classified using the GRADE methodology. Results: 83 studies were found, and six articles were selected after screening. The use of ascorbic acid in the concentration of 5 to 20% and its derivatives (0.075% to 9.55%) stood out. The outcomes presented a moderate GRADE quality: increased skin firmness and reduced redness, and high quality: improved hydration, elasticity, colorimetry of the stains and improved wound closure. Conclusion: Ascorbic acid promotes better skin elasticity, reduced erythema and better wound closure. Despite these strong indications, randomized clinical trials with a lower risk of measurement bias and greater casuistry are still necessary.

Psicanálise Solidária: projeto da Diretoria de Comunidade e Cultura da Febrapsi (2020) / Solidarity Psychoanalysis: project from Febrapsi Community and Culture Board (2020) / Psicoanálisis Solidario: proyecto de la Dirección de la Comunidad y Cultura de la Febrapsi (2020) / Psychanalyse Solidaire: projet de la Direction de Communauté et Culture de la Febrapsi (2020)

RESUMO A Febrapsi apoiou as federadas, Sociedades e Grupos de Estudos, a promover projetos que utilizem o dispositivo psicanalítico para a interação com a comunidade e com ações solidárias de suporte àqueles que estavam em sofrimento agudo. Entendemos que é nosso compromisso ético com o outro oferecer a psicanálise como importante instrumento de escuta, disponibilizando-nos na travessia do período crítico da pandemia. Também era, e ainda é, uma preocupação constante as graves consequências sociais e econômicas que repercutem nas vidas de uma grande parcela da população, já em situação de vulnerabilidade, como desempregados, trabalhadores informais e moradores de rua.

ABSTRACT Febrapsi has supported the federal Society and Study Groups, to promote projects that use the psychoanalytical mechanism for the interaction with the community and also with solidarity actions to help those suffering greatly. We understand that it is our ethical commitment to others to offer psychoanalysis as an essential listening tool, making ourselves available during this critical time of the pandemic. Social and economic serious outcomes have also been of great concern, as they influence great part of the people who are already vulnerable, as the unemployed and the self-employed people, besides the ones living on the streets.

RESUMEN Febrapsi apoyó a las federadas, Sociedades y Grupos de Estudio para pro-mover proyectos que utilizasen el dispositivo psicoanalítico para la interacción con la comunidad y con acciones solidarias de soporte a aquellos que estaban relatando su-frimiento agudo. Entendemos que es nuestro compromiso ético con el prójimo ofrecer el psicoanálisis como importante instrumento de atención, disponibilizándonos en la travesía del periodo crítico de la pandemia. También eran y todavía son una preocupación constante las graves consecuencias sociales y económicas que repercuten en la vida de una gran parcela de la población, ya en situación de vulnerabilidad, tales como desempleados, trabajadores informales y personas que viven en la calle.

RÉSUMÉ La Febrapsi a soutenu ses fédérées, Sociétés et Groupes d'étude, à pro-mouvoir des projets qui utilisent le dispositif psychanalytique pour établir une interaction avec la communauté et les actions solidaires d'appui à ceux qui étaient en souffrance aiguë. Nous comprenons que c'est notre engagement éthique par rapport à l'autre d'offrir la psychanalyse comme un important instrument d'écoute, nous rendant disponibles pendant la traversée de la période critique de la pandémie. Les graves conséquences sociales et économiques qui répercutent dans les vies d'une grande partie de la population, déjà en situation de vulnérabilité, tels que les chômeurs, les travailleurs informels et les sans-abri, c'était aussi, et c'est encore, une préoccupation constante.

Endovascular treatment of bilateral isolated aneurysm of the internal iliac artery.

Isolated aneurysms of the iliac arteries comprise less than 2% of abdominal aneurysms. The internal iliac artery is involved in 10-30% of cases. In most cases patients are asymptomatic, unless rupture occurs. They can be diagnosed by Doppler ultrasonography, magnetic resonance imaging or, preferably, angiotomography. Significant expansion, diameter of 3 cm or greater, and symptomatic cases are indications for surgery. We present the case of a patient with an incidental ultrasonographic finding of bilateral aneurysm of the internal iliac arteries, both with indications for surgery. The patient was successfully treated with endovascular techniques, first repairing the right internal iliac with a branched iliac stent graft, preserving patency, then embolizing the left internal iliac artery. Knowledge of the various different techniques and devices and their limitations is fundamental to adequate planning of endovascular treatment, even in rare cases.

Narratives on health: reflections on care for people with disabilities and genetic disease within the Brazilian National Health System (SUS) / Narrativas em saúde: refletindo sobre o cuidado à pessoa com deficiência e doença genética no Sistema Único de Saúde (SUS) / Narrativas en salud: reflexión sobre el cuidado a la persona con discapacidad y enfermedad genética en el Sistema Brasileño de Salud (SUS)

Dentre os fatores que interferem para um cuidado efetivo à saúde de pessoas com deficiência e doenças genéticas no SUS, incluem-se: a presença de estigmas, de relações marcadas pelo poder biomédico e pela violência institucional. O objetivo deste artigo é discutir as questões que atravessam esse cuidado, utilizando, como fio condutor, narrativas de experiências vividas pela autora no cuidado a crianças e famílias. Escrito no formato de ensaio, este texto discute as questões envolvendo o cuidado à saúde e a dádiva no contexto de práticas orientadas pela biomedicina e pelo biopoder. As narrativas revelam a capacidade de transformação de afetos e potencialização de encontros, marcados por circuitos de dádiva e pautados pela construção de relações intersubjetivas entre profissionais e usuários dos serviços que promovem novos espaços e formas de cuidado à saúde...

Entre los factores que interfieren para un cuidado efectivo de la salud de personas con discapacidad y enfermedades genéticas en el SUS, se incluyen los siguientes: la presencia de estigmas, de relaciones marcadas por el poder biomédico y por la violencia institucional. El objetivo de este artículo es discutir las cuestiones que atraviesan ese cuidado, utilizando como hilo conductor narrativas de experiencias vividas por la autora en el cuidado a niños y familias. Escrito en el formato de ensayo, este texto discute las cuestiones que envuelven el cuidado de la salud y la dádiva en el contexto de prácticas orientadas por la biomedicina y por el biopoder. Las narrativas revelan la capacidad de transformación de afectos y potencialización de encuentros, marcados por circuitos de dádiva y regidos por la construcción de relaciones intersubjetivas entre profesionales y usuarios de los servicios que promueven nuevos espacios y formas de cuidado de la salud...

The factors that influence effective healthcare for people with disabilities and genetic diseases within SUS include the presence of stigma, relationships marked by biomedical power and institutional violence. This paper aims to discuss the issues that run through this care, guided by narratives on this author's experiences of caring for children and families. This text was written in essay format and discusses the issues surrounding healthcare and benefits, within the context of practices driven by biomedicine and biopower. The narratives reveal the transforming capacity of affection and additional potential of meetings, marked by circuits of benefits and guided by construction of interpersonal relationships between professionals and service users that promote new spaces and forms of healthcare...

Avaliação das boas práticas em uma unidade de alimentação e nutrição escolar de Minas Gerais / Evaluation of good practices in a power unit and school nutrition of Minas Gerais

A mudança no estilo de vida faz com que o consumidor busque cada vez mais alimentar-se fora de casa. Esta mudança exigiu que as Unidades de Alimentação e Nutrição se adequassem às novas legislações para atender à segurança dos alimentos e às exigências dos consumidores. O objetivo desta pesquisa foi investigar e avaliar as condições higienicossanitárias de todo processo de manipulação de alimentos em uma Unidade de Alimentação e Nutrição escolar de Minas Gerais, por meio da aplicação de checklist e técnica de sedimentação em placas e ATP-Bioluminescência. Para avaliar as BPF, foi utilizado o guia de verificação baseado na RDC 216 (2004) e RDC 275 (2002) com 107 itens divididos em blocos, também foi aplicado um questionário para caracterização do perfil dos funcionários da UAN. Para as análises de sedimentação em placa e ATP-Bioluminescência os pontos de amostragem foram escolhidos conhecendo-se o fluxo de produção da UAN, sendo selecionados 9 pontos e 7 funcionários. Observou-se que 46% tinham idade superior a 20 anos e a renda mensal de 77% dos funcionários é de 1 a 2 salários mínimos. Os resultados globais da aplicação da lista de verificação mostraram que a UAN analisada apresentou valores médios de 50% de atendimento nos quesitos avaliados sendo classificada no grupo 3. Para análise de ATP-biolumescência realizadas na área de preparo (PRE), mesa 1 de preparo (ME 1) e mesa 2 de preparo (ME 2), 100% das amostras obtiveram valores considerados inaceitáveis, quando comparados com a recomendação da American Public Health Association (APHA). Pode-se concluir que a UAN avaliada apresentou elevado grau de não conformidades, não atendendo 47 dos 107 itens avaliados necessários ao atendimento das condições higienicossanitárias satisfatórias, estando, portanto, em desacordo com o programa de Boas Práticas de Fabricação.

Avaliação das boas práticas em uma unidade de alimentação e nutrição escolar de Minas Gerais

A mudança no estilo de vida faz com que o consumidor busque cada vez mais alimentar-se fora de casa. Esta mudança exigiu que as Unidades de Alimentação e Nutrição se adequassem às novas legislações para atender à segurança dos alimentos e às exigências dos consumidores. O objetivo desta pesquisa foi investigar e avaliar as condições higienicossanitárias de todo processo de manipulação de alimentos em uma Unidade de Alimentação e Nutrição escolar de Minas Gerais, por meio da aplicação de checklist e técnica de sedimentação em placas e ATP-Bioluminescência. Para avaliar as BPF, foi utilizado o guia de verificação baseado na RDC 216 (2004) e RDC 275 (2002) com 107 itens divididos em blocos, também foi aplicado um questionário para caracterização do perfil dos funcionários da UAN. Para as análises de sedimentação em placa e ATP-Bioluminescência os pontos de amostragem foram escolhidos conhecendo-se o fluxo de produção da UAN, sendo selecionados 9 pontos e 7 funcionários. Observou-se que 46% tinham idade superior a 20 anos e a renda mensal de 77% dos funcionários é de 1 a 2 salários mínimos. Os resultados globais da aplicação da lista de verificação mostraram que a UAN analisada apresentou valores médios de 50% de atendimento nos quesitos avaliados sendo classificada no grupo 3. Para análise de ATP-biolumescência realizadas na área de preparo (PRE), mesa 1 de preparo (ME 1) e mesa 2 de preparo (ME 2), 100% das amostras obtiveram valores considerados inaceitáveis, quando comparados com a recomendação da American Public Health Association (APHA). Pode-se concluir que a UAN avaliada apresentou elevado grau de não conformidades, não atendendo 47 dos 107 itens avaliados necessários ao atendimento das condições higienicossanitárias satisfatórias, estando, portanto, em desacordo com o programa de Boas Práticas de Fabricação.(AU)

The change in lifestyle makes consumers change feed themselves away from home. This change required the Food and Nutrition Units were suited the new laws to meet food safety and consumer demand. The objective of this research was to investigate and evaluate the hygiene-sanitary around food handling process of a Power Unit and School Nutrition Minas Gerais, through the application of checklist and sedimentation technique on plates and ATP- bioluminescence. To evaluate the GMP guide verification based on RDC 216 (2004) and RDC 275 (2002) with 107 items divided into blocks a questionnaire to characterize the profile of the UNA staff was also applied. For the analysis of sedimentation plate and ATP-Bioluminescence sampling points were chosen knowing the flow of production of UAN, we selected nine points. It was observed that 46% were older than 20 years and the monthly income of 77% of the staffs 1-2 minimum wages. The overall results of the application of the checklist showed that the UAN analyzed showed mean values of 50% attendance in the variables evaluated was classified in group 3 To analyze A TP-biolumescência performed in the staging area (PRE), table 1preparation (ME 1)and table 2 preparation (ME 2), 100% of the samples had values considered unacceptable when compared with the recommendation of the American Public Health Association (APHA). It can be concluded that the UAN evaluated showed a high degree of noncompliance, not meeting 47 of the 107 assessed items necessary to meet the satisfactory sanitary conditions, and is therefore at odds with the quality program Good Manufacturing Practices.(AU)

Avaliação e caracterização do uso de transglutaminase como agente estabilizante e/ou espessante em bebida láctea fermentada

O soro de leite é o principal sub produto da indústria de laticínios e possui diversos nutrientes e alta carga orgânica poluente. Na indústria de laticínios o soro é utilizado principalmente na produção de bebidaslácteas, sendo empregado na fabricação de alguns espessantes e/ou estabilizantes para evitar problemas tecnológicos, a sinerese. A capacidade da transglutaminase em melhorar as propriedades funcionais de proteínas vem sendo explorada em alimentos preparados como produtos de surimi, cárneos, massas, lácteos, entre outros. O objetivo deste trabalho foi avaliar o emprego da transglutaminase em bebida láctea fermentada com 45% de soro e avaliar suas características físico-químicas, microbiológicas e sensoriais durante a vida de prateleira do produto. Na primeira etapa foram avaliadas as cinco diferentes concentrações da enzima transglutaminase (0; 0,2; 0,3; 0,4; 0,5U/g) Na segunda etapa a bebida que teve a melhor aceitação sensorial foi avaliada durante 30 dias. Observou-se a bebida láctea tratada com 0,3 U/g de transglutaminase apresentou maior aceitação sensorial com escore médio de 7,66. Os valores de cor da bebida láctea tratada com 0,3 U/g não apresentaram diferença significativa (p<0,05). Os valores de sinerese apresentaram diferença significativa (p>0,05) entre os tempos e os tratamentos. As contagens de bactérias láticas estão de acordo com a estabelecida pela legislação vigente. Os resultados mostram a viabilidade do emprego de transglutaminase em bebida láctea.(AU)

Whey is a major by-product of the dairy industry and has many nutrients and high organic pollutant load. In the dairy industry whey is mainly used in the production of dairy drinks, being employed in the manufacture of some thickeners and / or stabilizers to avoid technical problems such as syneresis. The ability of the transglutaminase to improve the functional properties of proteins has been explored in foods prepared as surimi products, meat, pasta, milk, among others. The objective of this study was to evaluate the use of transglutaminase in fermented milk drink with 45% serum and evaluate its physical and chemical, microbiological and sensory characteristics during the shelf life of the first stage produto.Na were evaluated five different concentrations of the enzyme transglutaminase (0; 0,2; 0,3; 0,4; 0,5U/g) In the second step the drink that had the best sensory acceptance was evaluated for 30 to dias. Observou that the milky drink treated with 0.3 U/g transglutaminase had higher sensory acceptance with a mean score of 7.66. The color values of the milk beverage treated with 0.3 U/g did not differ significantly (p<0.05). The syneresis values were significantly different (p>0.05) between times and treatments. The counts of lactic acid bacteria are in accordance with the established by law. The results show the feasibility of the use of transglutaminase in milk drink.(AU)

Identification of familial clustering for cancer through the family health strategy program in the municipality of Angra dos Reis, Rio de Janeiro, Brazil.

Identification of families with history of cancer in the municipality of Angra dos Reis, Rio de Janeiro (Brazil), through the Brazilian Unified Primary Health Care System was explored based in the Community Health Agents (CHA) program. This study was divided into two phases: a descriptive one with a cross-sectional epidemiological data of families with history of cancer based on CHA-collected data from home visits in four primary health care units. The second phase consisted in identifying familial clustering of three or more individuals with cancer through construction of a three-generation pedigree and revisited by an itinerant group of medical geneticists. Genetic counseling was carried out with the intent of selecting potential families at risk for hereditary familial cancers. In the first phase of the study, 1,581 families were interviewed by the CHA at their homes. A positive history for cancer was present in 42.3 % of families, comprising 22.3 % with only one case per family, 11.2 % with two cases, and 8.6 % with three or more cases in the family. The informant reported that 15 % of the cases were from the father lineage, 12 % from the mother lineage, and 12.1 % within siblings. In the remaining 60.9 % families, cancer was present in both sides of the family. The types of cancer reported were uterus 8.7 % (n = 137), stomach 7.7 % (n = 122), breast 6.9 % (n = 109), throat 6.8 % (n = 99), prostate 5.4 % (n = 85), lung 5.6 % (n = 88), bowel 3.7 % (n = 59), and unspecified sites in 6.8 % (n = 108) of families. No statistical differences were noted between the data collected on each primary care unit. In the second phase of the study, 136 families (2.9 %) from the total of families interviewed in phase 1 were selected due to the presence of three or more individuals with cancer in the family. Among those, only 73 families attended genetic counseling. Comparison between the data obtained by the CHA and the medical geneticists shows complete agreement in 36 cases (49.3 %), partial agreement in 25 cases (34.2 %) with more detailed information in the CHA sheets, discordance in 4 cases (5.5 %), and not possible to correlate in 8 cases due to identification inconsistency. Risk assessment for cancer was calculated based on the criteria adopted by Scheuner et al. (Genet Med 12(11):726-735, 2010) and revealed that 50.0 % of the families were classified as having a weak risk, 36.1 % a moderate risk, and 13.8 % were considered of high risk. Concerning known hereditary cancer syndromes, we found one family that met the criteria for breast and ovary hereditary cancer (1.4 %) and one family with non-polyposis hereditary colon cancer as revised by Bethesda protocol. Such preliminary results indicated that the Brazilian Primary Health Care system based on the CHA framework can be an effective entrance into the Unified Brazilian Health Care System (SUS-Brazil) for individuals with genetically determined diseases, such as familial cancer. Families with a history of three or more cases of cancer and considered of high risk for familial cancer could be referred to a tertiary health center for proper oncogenetic counseling.

Development and validation of a rapid turbidimetric assay to determine the potency of cefuroxime sodium in powder for dissolution for injection.

The cefuroxime sodium is a second generation cephalosporin indicated for infections caused by Gram-positive and Gram-negative microorganisms. Although this drug is highly studied and researched regarding the antimicrobial activity, pharmacokinetics and pharmacodynamics, there are few studies regarding the development of analytical methodology for this cephalosporin. Thus, research involving analytical methods is essential and highly relevant to optimize its analysis in the pharmaceutical industry and guarantee the quality of the product already sold. This study describes the development and validation of a microbiological assay applying the turbidimetric method for the determination of cefuroxime, using Micrococcus luteus ATCC 9341 as micro-organism test and 3x3 parallel line assay design, with nine tubes for each assay, as recommended by the Brazilian Pharmacopoeia. The developed and validated method showed excellent results of linearity, seletivity, precision and robustness, in the concentration range from 30.0 to 120.0 mg/mL, with 100.21% accuracy and content 99.97% to cefuroxime sodium in injectable pharmaceutical form.

Knowledge of Human Genome Project among Dentistry undergraduates

Introduction: The Human Genome Project (HGP) has allowed for advances in diagnosis and prevention of diseases. Objective: The aim of this study was to investigate the knowledge of undergraduates from the Federal University of Santa Catarina, regarding HGP and its applicability. Material and methods: Thirty-one students were interviewed by using a questionnaire with open questions, followed by qualitative and quantitative analysis through answers' grouping. Results: Only 4.5% did not know HGP, while most of them (83%) demonstrated knowledge gained from the media. Only 21% cited the undergraduate program as a source of information, 56% recognized advances in disease prevention and 81% reported applicability in Dentistry. 97% students would give blood samples for research, 28% reported concern about misuse of this information, while 31% did not report any disadvantage. Conclusion: It may be concluded that the students have some knowledge on HGP. However, it is not widely discussed during course, because the media was the main source of information.

Comparação da metodologia para determinação da potência de amoxicilina: método de difusão em ágar e método de espalhamento / Comparison of methods for determining the power of amoxicillin: agar diffusion assay and method of spreading

Para o sucesso do tratamento de doenças infecciosas é preciso que a concentração de agentes microbianos no local da infecção esteja adequada, para isso é necessário que a potência dos antimicrobianos nas preparações farmacêuticas que serão administradas seja precisa. Esse estudo foi feito com o objetivo de desenvolver um método de doseamento da potência de antimicrobianos alternativo ao método de difusão em ágar, apresentando como inovação a forma de aplicação dos micro-organismos testes, que é feita com o auxílio de uma alça de Drigalski. Para a realização dos testes foram escolhidos o ágar Mueller – Hinton, o Micrococcus luteus como micro-organismo teste e a amoxicilina tri-hidratada como substância teste. Foram utilizadas 18 placas de Petri e após a medição dos halos de inibição, os resultados foram comparados com os do método oficial de difusão em ágar. A partir destes resultados pode-se afirmar então que o método de espalhamento com o uso da alça de Drigalski mostrou-se válido e constitui uma metodologia alternativa, econômica, confiável e de fácil execução para a determinação da potência de antimicrobianos.

For a successful treatment of infectious diseases, antimicrobial agents used at the infection site must be at a suitable concentration. This means that the potency of the antimicrobial, in the pharmaceutical preparations being administered, must be accurately known. The purpose of this study was to develop and test an alternative to the official agar diffusion method for the determination of the potency of an antimicrobial, the innovation being the way that the test microorganisms are applied, which is done with the help of a glass loop spreader. For the tests, Mueller – Hinton agar was chosen as the medium, Micrococcus luteus as the test organism and amoxicillin trihydrate as the test antibiotic. A total of 18 Petri dishes were used and, after measurement of the inhibition zones, the results were compared with the official method of agar diffusion with a seeded top agar layer. From these results it can be said that the method of spreading the inoculum with a sterile glass loop proved valid and constitutes an economic, reliable and easier alternative method for the determination of antimicrobial potency.

Development of hydroethanolic extract of Ipomoea pes-caprae using factorial design followed by antinociceptive and anti-inflammatory evaluation

Ipomoea pes-caprae (L.) R. Br., Convolvulaceae, is a medicinal plant that grows abundantly as a pan-tropical stand plant. The 3² (two factors and three levels) factorial design, was applied to determine the best time and drug/solvent proportion to maximize the flavonoid content in the hydroethanolic extract by maceration process. The antinociceptive and anti-inflammatory effects were studied at 5-20 mg/kg, i.p., using the writhing test and carrageenan-induced pleurisy models in mice. The optimized extract was able to inhibit more than 50% of abdominal writhing at 20 mg/kg, with 55.88%±2.4 of maximum inhibition. Indomethacin, used as positive control, inhibited 64.86% at 10 mg/kg. In the pleurisy model, the extract produced dose-dependent inhibition of the first phase of inflammation (4 h) in the pleural cavity induced by injection of carrageenan (1%) in mice. It inhibited 50%±0.82 (p<0.01) of exudation induced by carrageenan, and 60.88%±0.14 (p<0.01) of leukocyte migration to the pleural cavity. In conclusion, the results validate the technological conditions of the maceration process to produce an optimized bioactive herb extract for the development of analgesic and anti-inflammatory phytopharmaceuticals using 70 ºGL ethanol, a plant to solvent ratio of 12.5% (w/v), and ten days of maceration.

Atenção em genética médica no sus: a experiência de um município de médio porte / Attention in medical genetics in the brazilian health system: the experience of a medium-sized municipality

Realizou-se estudo descritivo e exploratório da experiência em município de médio porte da implantação de ações na área da Genética, conjugando a análise dos documentos oficiais e de um questionário aplicado a 43 profissionais de nível superior da Estratégia Saúde da Família. Os dados obtidos foram analisados buscando obter respostas sobre como e por que foram realizadas determinadas estratégias de atenção à saúde na área da Genética Clínica e Comunitária. Tais ações foram classificadas em "educação permanente", "vigilância em saúde" e "ampliação do acesso à assistência". Os resultados revelaram que ainda é necessário estender as ações de educação permanente na área para profissionais da atenção primária, possibilitando assim promover a efetivação dessa porta de entrada do Sistema Único de Saúde para a área da Genética e o acesso a um cuidado integral em saúde.

We conducted a descriptive study on the experience of implementation of actions in the area of genetics in a medium-sized municipality, combining the analysis of official documents and a questionnaire administered to 43 university level professionals of the Family Health Strategy. The data were analyzed looking for answers about how and why certain health care strategies in the area of clinical and community genetics were performed. Such actions were classified as "continuing education", "health surveillance" and "enhanced access to care". The results showed that it is still necessary to extend the actions of continuing education in genetics for primary care professionals, promoting this gateway to the SUS also to the area of genetics, in order to allow full access to comprehensive health care.

Avaliação genética itinerante de crianças e adolescentes com deficiência vinculadas à Estratégia Saúde da Família / Genetic evaluation as an itinerant strategic medical care towards impaired children and teenagers in the Brazilian Family Health Program / Evaluación genética itinerante de niños y adolescentes con deficiencia relacionados a la estrategia Brasileña de Salud Familiar

As doenças genéticas atingem cerca de 3% a 10% da população e podem levar a problemas de saúde crônicos e deficiências. O objetivo deste trabalho foi descrever uma experiência nacional inédita de assistência na área da genética clínica por meio de uma equipe itinerante de especialistas que avaliou pacientes selecionados pela atenção primária a partir da ficha complementar de cadastro de pessoas com deficiências. Foi realizado estudo descritivo e transversal dos pacientes identificados a partir da ficha complementar de cadastro de pessoas com deficiências, avaliados pela equipe em 2005, 2008 e 2009, num total de 324 famílias. A etiologia da deficiência foi definida como genética em 38% dos casos e ambiental em 32,7%. A prevalência de malformações congênitas foi de 31,8%. A utilização da ESF como porta de entrada ampliou o acesso a serviços de alta complexidade para pessoas com doenças de origem genética, defeitos congênitos e deficiências. Os resultados expõem a necessidade de interiorização da genética médica e suas interfaces com a atenção primária, reforçando a importância da implementação de políticas de saúde nesta área.

Genetic disorders affect about 3-10% of the population and can lead to chronic health problems and disabilities. The present work aimed to describe a new experience in health care in clinical genetics by an itinerant team of experts that evaluated patients selected by the primary care through the supplementary registration form for people with disabilities. A descriptive and transversal study was carried out with patients, who were previously identified by the supplementary registration form for people with disabilities, evaluated by the team in 2005, 2008 and 2009, in a total of 324 families. The etiology of disability was defined as genetic in 38% of the cases and environmental in 32.7%. The prevalence of congenital malformations was 31.8%. Family Health Strategy was utilized as a gateway to expand the access to health services for people with highly complex genetic diseases, birth defects and disabilities. The results expose the need to interiorize medical genetics and its interfaces with primary care in Brazil, reinforcing the importance of implementing health policies in this area.

Las enfermedades genéticas alcanzan a cerca del 3 a 10% de la población y pueden llevar a problemas crónicos de salud y deficiencias. El objetivo deste trabajo fue describir una experiencia nacional inédita de asistencia en el área de la genética clinica por medio de un equipo itinerante de especialistas que evaluaron pacientes seleccionados por la atención primaria a partir de la historia clínica disponible en el registro de personas con deficiencia. Fue realizado un estudio descriptivo y transversal de los pacientes identificados a partir de la historia clínica disponible en el registro de personas con deficiencia en 2005, 2008 y 2009, con un total de 324 familias. La etiologia de deficiencia fue definida como genética en 38% y ambiental en 32,7% de los casos. La prevalencia de malformaciones congénitas fue de 31,8%. La utilizacion de Estrategia de Salud Familiar como puerta de entrada amplió el acceso a servicios de alta complejidad para personas con enfermedades de origen genético, defectos congénitos y deficiencias. Nuestros resultados exponen la necesidad de interiorización de la genética médica y sus interfaces con la atencion primaria de la salud, reforzando la importância de implementar políticas de salud en esa área.

Massa das sementes de Tecoma stans L. Juss. ex Kunth (Bignoniaceae): efeitos na emergência e desenvolvimento de suas plântulas no sol e na sombra / Seed mass of Tecoma stans L. Juss. ex Kunth (Bignoniaceae): effects on emergence and seedling development under full sun and shade

The aim of this study was to evaluate the effect of Tecoma stans L. Juss. ex Kunth seeds mass on initial emergence, growth and, seedling development under different light conditions. The seeds were separated in four mass classes and sowed in four replicates of 24 seeds for each class, under full sun and canopy shade. Under sun environment was observed a greater percentage of emergence. Heavy seeds presented the greater percentage of emergence under both environments, but a greater rate was observed under canopy shade. One month after the start of experiments, the seedlings at the shade environment presented 100 percent of mortality. The growth and development seedlings under full sun were noticed for five months. In this period, only in the first three months was possible to observe the effects of Tecoma stans seeds mass on capacity of seedlings to acquire dry mass. The seedlings biomass partitions were similar among the tested mass class. The seedlings of smaller mass tended to a high specific leaf area in relation to the seedlings from large seeds, mainly in the first three months, resulting in a great acquisition of dry mass by these seedlings. In the fourth month, the specific leaf area did not present any tendency. Because the biggest seeds to give rise seedlings with best initial development than smallest seeds can be considered as species reproductive strategy. To produce seeds of different sizes also can be considered as way of species to spread in many microhabitats.

Este estudo teve como objetivo avaliar o efeito da massa das sementes de Tecoma stans L. Juss. ex Kunth na emergência, no crescimento e no desenvolvimento inicial de suas plântulas sob diferentes condições de luminosidade. As sementes foram separadas em quatro classes de massa e semeadas em quatro réplicas de 24 sementes para cada classe, no sol e na sombra. No ambiente de sol ocorreu a maior porcentagem de emergência. Dentre as classes de massa, sementes maiores apresentaram maior porcentagem de emergência em ambos os ambientes, porém a maior velocidade foi observada na sombra. Após um mês do início do experimento as plântulas da sombra apresentaram 100 por cento de mortalidade. O crescimento e desenvolvimento das plântulas no sol foram acompanhados mensalmente por um período de cinco meses. Neste período, foi possível observar os efeitos da massa das sementes de Tecoma stans no ganho de massa seca das plântulas nos três primeiros meses; a partir deste, a massa das sementes não teve efeito no ganho de matéria seca pelas plântulas. A partição da biomassa das plântulas não diferiu entre as classes de massa testadas. As plântulas de menor massa apresentaram uma tendência a uma maior área foliar específica em relação às plântulas originárias de sementes mais pesadas, principalmente nos três primeiros meses, resultando em um ganho maior de matéria seca das plântulas de menor classe de massa. Já no quarto mês, a área foliar específica não apresentou qualquer tendência. O fato de sementes maiores originarem plântulas com melhor desenvolvimento inicial quando comparadas com as sementes menores pode ser considerada como estratégia reprodutiva da espécie, assim como produzir sementes de diversos tamanhos pode ser considerado como uma maneira da espécie dispersar-se e colonizar um maior número de microambientes.