High-Resolution Genomic Mapping Reveals Consistent Amplification of the Fibroblast Growth Factor Receptor Substrate 2 Gene in Well-Differentiated and Dedifferentiated Liposarcoma

Well-differentiated liposarcoma (WDLS) is one of the most common malignant mesenchymal tumors and dedifferentiated liposarcoma (DDLS) is a malignant tumor consisting of both WDLS and a transformed nonlipogenic sarcomatous component. Cytogenetically, WDLS is characterized by the presence of ring or giant rod chromosomes containing several amplified genes, including MDM2, TSPAN31 CDK4, and others mainly derived from chromosome bands 12q13-15. However, the 12q13-15 amplicon is large and discontinuous. The focus of this study was to identify novel critical genes that are consistently amplified in primary (nonrecurrent) WDLS and with potential relevance for future targeted therapy. Using a high-resolution (5.0 kb) ""single nucleotide polymorphism""/copy number variation microarray to screen the whole genome in a series of primary WDLS, two consistently amplified areas were found on chromosome 12: one region containing the MDM2 and CPM genes, and another region containing the FRS2 gene. Based on these findings, we further validated FRS2 amplification in both WDLS and DDLS. Fluorescence in situ hybridization confirmed FRS2 amplification in all WDLS and DDLS tested (n = 57). Real time PCR showed FRS2 mRNA transcriptional upregulation in WDLS (n = 19) and DDLS (n = 13) but not in lipoma (n = 5) and normal fat (n = 9). Immunoblotting revealed high expression levels of phospho-FRS2 at 1436 and slightly overexpression of total FRS2 protein in liposarcoma but not in normal fat or preadipocytes. Considering the critical role of FRS2 in mediating fibroblast growth factor receptor signaling, our findings indicate that FRS2 signaling should be further investigated as a potential therapeutic target for liposarcoma. (C) 2011 Wiley-Liss, Inc.

Intervenção com pais de crianças deficientes auditivas: elaboração e avaliação de um programa de orientação não presencial

As orientações aos pais favorecem a aceitação da deficiência auditiva e esclarecem possibilidades e condutas que viabilizam o desenvolvimento da criança. Devem ser cuidadosas, a fim de evitar insegurança, ansiedade, expectativas irreais ou reações inadequadas dos pais. Essas orientações são oferecidas no diagnóstico e no acompanhamento, mas as restrições de tempo e financeiras são dificuldades dos pais para o comparecimento freqüente a programas que forneçam um suporte contínuo. A proposta deste trabalho foi elaborar e avaliar um programa de orientação não presencial para pais de crianças com deficiência auditiva severa e profunda, de dois a seis anos de idade. O programa, estruturado em quatro unidades, foi aplicado a 30 pais atendidos no Hospital de Reabilitação de Anomalias Craniofaciais da USP, em Bauru/SP. As unidades foram formuladas com base nas orientações que os especialistas de diferentes áreas transmitem durante o diagnóstico da deficiência auditiva e nas dificuldades e interesses dos pais, identificando-se o conhecimento sobre as avaliações e acompanhamentos, opiniões sobre desempenho e necessidades da criança, deles próprios e das famílias. Para avaliação do programa foram analisadas as respostas dos pais aos questionários das unidades e às entrevistas finais. As análises revelaram que o programa forneceu aos pais, como eles desejavam, informações claras e sugestões de atividades que pudessem ser adequadas ao contexto familiar e colaborassem para o desenvolvimento da criança. Alguns pais encontraram dificuldade em se expressar por escrito e realizar algumas atividades, mas nas entrevistas, foi verificado que tal fato não inviabilizou o entendimento e a participação no programa.

International Society for Sexual Medicine`s Guidelines for the Diagnosis and Treatment of Premature Ejaculation

Introduction. Over the past 20 years our knowledge of premature ejaculation (PE) has significantly advanced. Specifically, we have witnessed substantial progress in understanding the physiology of ejaculation, clarifying the real prevalence of PE in population-based studies, reconceptualizing the definition and diagnostic criterion of the disorder, assessing the psychosocial impact on patients and partners, designing validated diagnostic and outcome measures, proposing new pharmacologic strategies and examining the efficacy, safety and satisfaction of these new and established therapies. Given the abundance of high level research it seemed like an opportune time for the International Society for Sexual Medicine (ISSM) to promulgate an evidenced-based, comprehensive and practical set of clinical guidelines for the diagnosis and treatment of PE. Aim. Develop clearly worded, practical, evidenced-based recommendations for the diagnosis and treatment of PE for family practice clinicians as well as sexual medicine experts. Method. Review of the literature. Results. This article contains the report of the ISSM PE Guidelines Committee. It affirms the ISSM definition of PE and suggests that the prevalence is considerably lower than previously thought. Evidence-based data regarding biological and psychological etiology of PE are presented, as is population-based statistics on normal ejaculatory latency. Brief assessment procedures are delineated and validated diagnostic and treatment questionnaires are reviewed. Finally, the best practices treatment recommendations are presented to guide clinicians, both familiar and unfamiliar with PE, in facilitating treatment of their patients. Conclusion. Development of guidelines is an evolutionary process that continually reviews data and incorporates the best new research. We expect that ongoing research will lead to a more complete understanding of the pathophysiology as well as new efficacious and safe treatments for this sexual dysfunction. Therefore, it is strongly recommended that these guidelines be re-evaluated and updated by the ISSM every 4 years. Althof SE, Abdo CHN, Dean J, Hackett G, McCabe M, McMahon CG, Rosen RC, Sadovsky R, Waldinger M, Becher E, Broderick GA, Buvat J, Goldstein I, El-Meliegy AI, Giuliano F, Hellstrom WJG, Incrocci L, Jannini EA, Park K, Parish S, Porst H, Rowland D, Segraves R, Sharlip I, Simonelli C, and Tan HM. International Society for Sexual Medicine`s guidelines for the diagnosis and treatment of premature ejaculation. J Sex Med 2010;7:2947-2969.

Evolutionary patterns in neotropical Helieae (Gentianaceae): evidence from morphology, chloroplast and nuclear DNA sequences

Parsimony-based phylogenetic analyses of the neotropical tribe Helieae (Gentianaceae) are presented, including 22 of the 23 genera and 60 species. This study is based on data from morphology, palynology, and seed micromorphology (127 structural characters), and DNA sequences (matK, trnL intron, ITS). Phylogenetic reconstructions based on ITS and morphology provided the greatest resolution, morphological data further helping to tentatively place several taxa for which DNA was not available (Celiantha, Lagenanthus, Rogersonanthus, Roraimaea, Senaea, Sipapoantha, Zonanthus). Celiantha, Prepusa and Senaea together appear as the sister clade to the rest of Helieae. The remainder of Helieae is largely divided into two large subclades, the Macrocarpaea subclade and the Symbolanthus subclade. The first subclade includes Macrocarpaea, sister to Chorisepalum, Tochia, and Zonanthus. Irlbachia and Neblinantha are placed as sisters to the Symbolanthus subclade, which includes Aripuana, Calolisianthus, Chelonanthus, Helia, Lagenanthus, Lehmanniella, Purdieanthus, Rogersonanthus, Roraimaea, Sipapoantha, and symbolanthus. Generic-level polyphyly is detected in Chelonanthus and Irlbachia. Evolution of morphological characters is discussed, and new pollen and seed characters are evaluated for the first time in a combined morphological-molecular phylogenetic analysis.

Phylogenetic relationships within the speciose family Characidae (Teleostei: Ostariophysi: Characiformes) based on multilocus analysis and extensive ingroup sampling

Background: With nearly 1,100 species, the fish family Characidae represents more than half of the species of Characiformes, and is a key component of Neotropical freshwater ecosystems. The composition, phylogeny, and classification of Characidae is currently uncertain, despite significant efforts based on analysis of morphological and molecular data. No consensus about the monophyly of this group or its position within the order Characiformes has been reached, challenged by the fact that many key studies to date have non-overlapping taxonomic representation and focus only on subsets of this diversity. Results: In the present study we propose a new definition of the family Characidae and a hypothesis of relationships for the Characiformes based on phylogenetic analysis of DNA sequences of two mitochondrial and three nuclear genes (4,680 base pairs). The sequences were obtained from 211 samples representing 166 genera distributed among all 18 recognized families in the order Characiformes, all 14 recognized subfamilies in the Characidae, plus 56 of the genera so far considered incertae sedis in the Characidae. The phylogeny obtained is robust, with most lineages significantly supported by posterior probabilities in Bayesian analysis, and high bootstrap values from maximum likelihood and parsimony analyses. Conclusion: A monophyletic assemblage strongly supported in all our phylogenetic analysis is herein defined as the Characidae and includes the characiform species lacking a supraorbital bone and with a derived position of the emergence of the hyoid artery from the anterior ceratohyal. To recognize this and several other monophyletic groups within characiforms we propose changes in the limits of several families to facilitate future studies in the Characiformes and particularly the Characidae. This work presents a new phylogenetic framework for a speciose and morphologically diverse group of freshwater fishes of significant ecological and evolutionary importance across the Neotropics and portions of Africa.

Friere`s Dialogic Concept Enables Family Health Program Teams to Incorporate Health Promotion

Objective The study analyzes the possibility of incorporating health promotion measures into the work processes of Family Health Program teams at a primary health care clinic in Brazil. Design and Sample We used the participatory research concept developed in 1968 by Freire. The study sample comprised the end-users of the health care system, together with 3 multidisciplinary teams. A total of 77 health care users and 55 health professionals participated in the study. Measures Culture circles composed of health care professionals, and users from different areas investigated generative topics, encoded/decoded topics, and engaged in critical probing for clarification. Topics affecting quality of life and health were heuristically evaluated. Results Although most topics were related to changing the focus of health care facilities, some were related to subsidizing community-based interventions, improving environmental strategies, individual skills, and public policies. Incorporating the novel health promotion measures and creating an expanded full-treatment clinic are important steps toward that goal. Conclusions Topics that can stimulate dialogue among the members of the culture circles include creating an environment of closer cultural contact, with repercussions for work processes, family health models, and general health models, as well as the inclusion of social aspects in the decision-making processes related to health issues that affect the living conditions of the population.

PENCALC: a program for penetrance estimation in autosomal dominant diseases

We present a computer program developed for estimating penetrance rates in autosomal dominant diseases by means of family kinship and phenotype information contained within the pedigrees. The program also determines the exact 95% credibility interval for the penetrance estimate. Both executable (PenCalc for Windows) and web versions (PenCalcWeb) of the software are available. The web version enables further calculations, such as heterozygosity probabilities and assessment of offspring risks for all individuals in the pedigrees. Both programs can be accessed and down-loaded freely at the home-page address http://www.ib.usp.br/~otto/software.htm.

Ações de saúde mental na atenção básica: caminho para ampliação da integralidade da atenção

A great challenge for the primary healthcare system, implemented by the strategy called the Family Health Program, is to incorporate actions for facing situations of violence and mental health problems. This study analyzed the care delivered to 411 children between five and eleven years of age in a primary care unit in the city of São Paulo. The clinical findings were compared to a standard inventory of symptoms (CBCL). In addition, semi-structured interviews were held with pediatricians. The study shows low capacity of the pediatricians to recognize mental health problems in children. This is mainly due to deficiencies in their training and lack of possibilities for concrete intervention to face a complaint or diagnostic hypothesis. The reorganization process of primary care will need to provide specific technical support in mental health, incorporating more appropriate technologies for intervention such as a humanized approach and qualified listening. The inclusion of psychosocial aspects in the everyday practice of primary care will make it possible to broaden the concept of health and open way for an integrated approach to situations of violence related to children assisted by the primary care network of the Brazilian Health System.

Efetividade de programa de agentes comunitários na promoção da saúde bucal

OBJETIVO:Avaliar mudanças em conhecimentos, atitudes e acesso/utilização de serviços odontológicos decorrentes de um programa de promoção da saúde bucal com agentes comunitários de saúde. MÉTODOS:Um projeto de capacitação combinando ensino-aprendizagem, apoio e supervisão, foi desenvolvido entre os meses de julho de 2003 a agosto de 2004. As mudanças foram avaliadas por meio de entrevistas estruturadas em que participaram 36 agentes comunitários de saúde e uma amostra de 91 mulheres e mães, representativa de donas de casa com 25 a 39 anos de idade, alfabetizadas e residentes em domicílios de três a seis cômodos no município de Rio Grande da Serra (SP). Foram colhidos dados sobre conhecimentos de saúde-doença bucal, práticas e capacidades auto-referidas em relação ao auto-exame, higiene bucal, número de residentes e de escovas dentais individuais e coletivas em cada domicílio e acesso e uso de serviços odontológicos. Por meio do teste t de Student pareado, foram comparadas as médias dos valores obtidos antes e depois do programa para cada um dos grupos estudados. As respostas foram analisadas adotando-se um nível de significância de 5%. RESULTADOS: Foram observadas diferenças estatisticamente significativas para questões relativas ao conhecimento de saúde bucal entre os agentes e entre as mulheres antes e depois da capacitação (p<0,05). Desequilíbrio entre o número de escovas e de indivíduos em cada família diminuiu. A freqüência da escovação e do uso do fio dental se elevou depois da atuação dos agentes. Os valores de auto-avaliação da higiene bucal aumentaram. Modificação nas práticas e capacidades auto-referidas mostrou significativa elevação da auto-confiança. O acesso ao serviço foi mais fácil (p<0,000) e seu uso mais regular (p<0,000) entre mulheres. CONCLUSÕES: Houve mudanças positivas na percepção em relação a aspectos de saúde bucal, na auto-confiança e no acesso e uso de serviços odontológicos. Tais mudanças po

The effectiveness of educational practice in diabetic foot: a view from Brazil

Background: The aim of the present study was to evaluate the prevention and self-inspection behavior of diabetic subjects with foot at ulcer risk, no previous episode, who participated in the routine visits and standardized education provided by the service and who received prescribed footwear. This evaluation was carried out using a questionnaire scoring from 0-10 (high scores reflect worse practice compliance). Results: 60 patients were studied (30 of each sex); mean age was 62 years, mean duration of the disease was 17 years. As for compliance, 90% showed a total score <= 5, only 8.7% regularly wore the footwear supplied; self foot inspection 65%, 28,3% with additional familiar inspection; creaming 77%; proper washing and drying 88%; proper cutting of toe nails 83%; no cuticle cutting 83%; routine shoe inspection 77%; no use of pumice stones or similar abrasive 70%; no barefoot walking 95%. Conclusion: the planned and multidisciplinary educational approach enabled high compliance of the ulcer prevention care needed in diabetic patients at risk for complications. In contrast, compliance observed for the use of footwear provided was extremely low, demonstrating that the issue of its acceptability should be further and carefully addressed. In countries of such vast dimensions as Brazil multidisciplinary educational approaches can and should be performed by the services providing care for patients with foot at risk for complications according to the reality of local scenarios. Furthermore, every educational program should assess the learning, results obtained and efficacy in the target population by use of an adequate evaluation system.

The family health system: analysis of a health survey in Sao Paulo, Brazil

Background The Family Health Strategy (FHS) has been implemented as a strategy for primary care improvement in Brazil. Working with teams that include one doctor, one nurse, auxiliary nurses and community health workers in predefined areas, the FHS began in 1994 (known then as the Family Health Program) and has since grown considerably. The programme has only recently undergone assessment of outcomes, in contrast to more routine evaluations of infrastructure and process. Methods In 2001, a health survey was carried out in two administrative districts (with 190 000 inhabitants) on the outskirts of the city of Sao Paulo, both partially served by the FHS. Chronic morbidity (hypertension, diabetes and ischaemic heart disease) of individuals aged 15 or older was studied in areas covered and not covered by the programme. Stratified univariate analysis was applied for sex, age, education, income, working status and social insurance of these populations. Multivariate analysis was applied where applicable. Results There was a distinct pattern in the morbidity profile of these populations, suggesting differentiated self-knowledge on chronic disease status in the areas served by the FHS. Conclusion The FHS can increase population awareness of chronic diseases, possibly through increasing access to primary care.

The Emergence of Family Nursing in Brazil

A family perspective has been influencing Brazilian nursing practice and research, in particular in the past decade. Despite this development, there is evidence from research and from nurses` narratives that nurses still experience serious challenges in providing nursing care to families in Brazil. These challenges are analyzed and strategies are offered to support nurses in Brazil to ""think family"" and stimulate advanced practice in family nursing.

Child psychiatry takes to the streets: A developmental partnership between a university institute and children and adolescents from the streets of Sao Paulo, Brazil

Objective: High levels of domestic violence, mental illness, and alienation from authorities are associated with high incidence of children/adolescents living on the streets in low and middle income countries. The Equilibrium Project (Programa Equilibrio) was created to facilitate social reintegration through a virtual partnership between an academic psychiatric institute and highly vulnerable children and adolescents living on the streets, in group shelter with supervision, and in other high risk situations. Methods: Descriptive presentation of qualitative data and analysis of preliminary empirical data collected over a 24-month period. Results: Dialogue between academic professionals, street children, and city officials shaped The Equilibrium Project over the last 2 years. The program has progressively moved from a professional clinic setting to a community-based but protected activity center with recreational and professional services and an emphasis on linkage with social service agencies, city government and law enforcement officials in an academic research context. A total of 351 patients have been served of whom virtually all were neglected by their parents, 58.4% report physical or sexual abuse, 88.89% have been diagnosed with a psychiatric disorder, 40.4% drug use. After 2 years of operation, 63.5% (n = 223) successfully completed or continue in treatment and 34.8% (n = 122) were reunited with their families. Conclusions and Practice implications: Program development guided by consumer input led to a successful program offering professional services in a protected community setting that facilitates social reintegration by providing ""go between"" services integrating relationships between alienated consumers and formal psychiatric, pediatric, social service, and criminal justice systems. (C) 2011 Elsevier Ltd. All rights reserved.

Validity and applicability of the Mini International Neuropsychiatric Interview administered by family medicine residents in primary health care in Brazil

Objective: To evaluate the validity and applicability of the Mini International Neuropsychiatric Interview (MINI) used by family medicine residents in primary health care (PHC) in Brazil. Methods: Training for administrating the MINI was given as part of a broad psychiatry education program. Interviews were held with 120 PHC patients who were at least 15 years old. MINI was administered by 25 resident physicians, while the Structured Clinical Interview for Diagnosis (SCID) was administered by a psychiatrist blind to patients` results on the MINI, and the diagnoses on both interviews were compared. The resident physicians answered questions on the applicability of the MINI. Results: Concordance levels for any mental disorder, the broader current diagnostic categories and the most common specific diagnoses were analyzed. Kappa coefficients ranged between 0.65 and 0.85; sensitivity, between 0.75 and 0.92; specificity, between 0.90 and 0.99; positive predictive values (PPV), between 0.60 and 0.86; negative predictive values (NPV), between 0.92 and 0.99; and accuracy, between 0.88 and 0.98. The resident physicians considered MINI comprehensibility and clinical relevance satisfactory. Conclusions: These good psychometric results in a real-world setting may be related to a special training program, which is more frequent, intensive and diversified. In these conditions, the MINI is a useful tool for general practitioners. (c) 2008 Elsevier Inc. All rights reserved.