A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering

A number of speech disorders including stuttering have been shown to have important genetic contributions, as indicated by high heritability estimates from twin and other studies. We studied the potential contribution to stuttering from variants in the FOXP2 gene, which have previously been associated with developmental verbal dyspraxia, and from variants in the CNTNAP2 gene, which have been associated with specific language impairment (SLI). DNA sequence analysis of these two genes in a group of 602 unrelated cases, all with familial persistent developmental stuttering, revealed no excess of potentially deleterious coding sequence variants in the cases compared to a matched group of 487 well characterized neurologically normal controls. This was compared to the distribution of variants in the GNPTAB, GNPTG, and NAGPA genes which have previously been associated with persistent stuttering. Using an expanded subject data set, we again found that NAGPA showed significantly different mutation frequencies in North Americans of European descent (p = 0.0091) and a significant difference existed in the mutation frequency of GNPTAB in Brazilians (p = 0.00050). No significant differences in mutation frequency in the FOXP2 and CNTNAP2 genes were observed between cases and controls. To examine the pattern of expression of these five genes in the human brain, real time quantitative reverse transcription PCR was performed on RNA purified from 27 different human brain regions. The expression patterns of FOXP2 and CNTNAP2 were generally different from those of GNPTAB, GNPTG and NAPGA in terms of relatively lower expression in the cerebellum. This study provides an improved estimate of the contribution of mutations in GNPTAB, GNPTG and NAGPA to persistent stuttering, and suggests that variants in FOXP2 and CNTNAP2 are not involved in the genesis of familial persistent stuttering. This, together with the different brain expression patterns of GNPTAB, GNPTG, and NAGPA compared to that of FOXP2 and CNTNAP2, suggests that the genetic neuropathological origins of stuttering differ from those of verbal dyspraxia and SLI. Published by Elsevier Inc.

As empresas familiares e os desafios do profissional de relações públicas

The enterprises are in the midst of a competitive and open market, in which, rapidly, new enterprises are created, international competitors are installed on the local market and products and services are invented or improved to ensure quality, sophistication and low cost. In this scenario, the familial enterprises seek survival through new information and strategies to solve existing conflicts and overcome the challenges of the globalized market. However, resistance to change is a factor common to more traditional familial enterprise culture, therefore, modify solid structures, built over many years, reflects insecurity, fragility and threats facing the different. This project aims to analyze the brazilian familial enterprise, in particular the enterprise Móveis Zacarias, as its historical trajectory, representativeness, economic importance, concept, structure, culture and problems that are peculiar, for example, problems with succession, management, professionalism and communication. In addition to demonstrating the importance of Public Relations professional in mediating conflicts in family businesses. In addition to demonstrating the importance of PR, that when using any of the communication tools, can mediate and facilitate the relationship between members of the family business, and maintain both systems, leading to cooperation between business and family through preventive actions

Incidência, fatores de risco e consequências de defeitos congênitos em recém-nascidos e natimortos

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Limites e possibilidades para a apicultura na região central do Estado de São Paulo

Beekeeping is recognized as promoter of assumptions and dimensions of sustainable development, supported by the triple bottle line – economic viability, social relevance and environmental prudence. Historically, it is strongly related with the central state of São Paulo. This work has as main objective to identify the profile of beekeeping in the this region, based on four municipalities (Araraquara, Descalvado, Rio Claro and São Carlos) in order to determine the main difficulties faced by beekeepersfor the sustainable development, pointing alternative interventions able to soften the effects of difficulties. It was used two different and complementary methodological strategies. The first one was a search with the databases (SEADE and IBGE) to obtain secondary data and quantitative regarding beekeeping in the region. The second one, it wasthrough field research with the beekeepers. The survey found that beekeeping in the region, presents an essentially familial and hereditary. Was also noticed the damage caused in the production, by limiting access to the region’s bee pastures and use of pesticides. In processing, it was found the extremely precarious conditions. At the institutional level, it was found the relative weakness of the beekeepers cooperatives, and the lack of support from local governments to consolidate activity.

PHF21B as a candidate tumor suppressor gene in head and neck squamous cell carcinomas

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Obsessive-compulsive symptom dimensions in a population-based, cross-sectional sample of school-aged children

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

The relationship between obesity, low back pain, and lumbar disc degeneration when genetics and the environment are considered: a systematic review of twin studies

BACKGROUND CONTEXT: The relationships between obesity and low back pain (LBP) and lumbar disc degeneration (LDD) remain unclear. It is possible that familial factors, including genetics and early environment, affect these relationships.PURPOSE: To investigate the relationship between obesity-related measures (eg, weight, body mass index [BMI]) and LBP and LDD using twin studies, where the effect of genetics and early environment can be controlled.STUDY DESIGN: A systematic review with meta-analysis.METHODS: MEDLINE, CINAHL, Scopus, Web of Science, and EMBASE databases were searched from the earliest records to August 2014. All cross-sectional and longitudinal observational twin studies identified by the search strategy were considered for inclusion. Two investigators independently assessed the eligibility, conducted the quality assessment, and extracted the data. Metaanalyses (fixed or random effects, as appropriate) were used to pool studies'estimates of association.RESULTS: In total, 11 articles met the inclusion criteria. Five studies were included in the LBP analysis and seven in the LDD analysis. For the LBP analysis, pooling of the five studies showed that the risk of having LBP for individuals with the highest levels of BMI or weight was almost twice that of people with a lower BMI (odds ratio [OR] 1.8; 95% confidence interval [CI] 1.6-2.0; I-2 = 0%). A dose-response relationship was also identified. When genetics and the effects of a shared early environment were adjusted for using a within-pair twin case-control analysis, pooling of three studies showed a reduced but statistically positive association between obesity and prevalence of LBP (OR 1.5; 95% CI 1.1-2.1; I-2 = 0%). However, the association was further diminished and not significant (OR 1.4; 95% CI 0.8-2.3; I-2 = 0%) when pooling included two studies on monozygotic twin pairs only. Seven studies met the inclusion criteria for LDD. When familial factors were not controlled for, body weight was positively associated with LDD in all five cross-sectional studies. Only two cross-sectional studies investigated the relationship between obesity-related measures and LDD accounting for familial factors, and the results were conflicting. One longitudinal study in LBP and three longitudinal studies in LDD found no increase in risk in obese individuals, whether or not familial factors were controlled for.CONCLUSIONS: Findings from this review suggest that genetics and early environment are possible mechanisms underlying the relationship between obesity and LBP; however, a direct causal link between these conditions appears to be weak. Further longitudinal studies using the twin design are needed to better understand the complex mechanisms underlying the associations between obesity, LBP, and LDD.

Genomic alterations in patients showing multiple primary tumors and family history of cancer

Multiple primary tumors (MPT) are a major cause of mortality and morbidity among patients that have survived after the treatment of a first cancer. It has been proposed that after the first primary tumor, high risk of a subsequent tumor could be associated with radiotherapy used as treatment for the first cancer. Other potential risk factors include unhealthy lifestyle, genetic predisposition, aging, environmental determinants or an interaction between these factors. However, an association between the presence of MPT and family history of cancer in cases without clinical and molecular evidence of a known hereditary cancer syndrome is rarely described. Genomic DNA from 12 patients with at least two primary tumors and without mutations on TP53 was evaluated by CytoScan HD Array (Affymetrix). Chromosome Analysis Suite (ChAS) software v.2.0.1 was used considering at least 50 markers for gains; 25 for losses and a minimum of 5Mb for cnLOHs. Data from 1038 phenotypically healthy individuals (Affymetrix) and from Database of Genomic Variants were used as reference. Only alterations found in <1% (rare) or never described (new rare) in the reference population were considered. All cases, except one, presented a family history of cancer. Five cases developed MTP after radiotherapy and only one was located in the same treated area. It was detected 67 rare and 15 new rare genomic alterations encompassing 5.906 genes: 17 losses, 29 gains, and 36 cnLOH. X chromosome presented the higher number of alterations. Two patients with breast cancer presented a large deletion/cnLOH on 7q21. Enrichment analysis revealed 1275 genes associated with breast cancer (p= 0.001), which was diagnosed in 6 patients and their family members (all negative for BRCA1/2 or TP53 mutations). cnLOHs accounted for 44% of all the alterations. A significant proportion of cases (11/12) presented family history of cancer and the patients were not submitted to radiotherapy (7/12). We demonstrated the presence of rare genomic alterations in patients with MPT suggesting their involvement in the MPT development. cnLOH may arise as a new mechanism associated with the risk to develop MPT. All authors have declared no conflicts of interest.

Estudo funcional de genes de reparo de DNA superexpressos em glioblastoma multiforme

Pós-graduação em Biociências e Biotecnologia Aplicadas à Farmácia - FCFAR

A família e o indivíduo no curso vital: compreensão trigeracional sobre a morte e o morrer

The death has been considered a forbidden issue. To develop studies that promote reflections about it allows the enlargement of the understanding as regarding the death as about life in that both are related during the human existence. This research aimed to understand the death’s conceptions and family meanings to three different generations. For this goal, through phenomenological methodology, were achieved individual interviews with adolescents, both his parents and the grandfather, all belonging to the same family. After to understand the participant’s experiences, six thematic categories were created: a) Death’s meanings; b) The death of himself; c) The death of another and/or its possibility; d) Sources of support; e) The family in the death’s presence; f) The life in the death’s inevitability presence. From these categories, the dates were phenomenologically. The participants showed similar reports in several times, confirming the literature that says that the daily life experiences among the family members take the family to form a peculiar way to understand and an interpret their experiences. This identity family, however, did not prevent each participant to develop his particular history based in idiosyncratic elements and associated with the stage of life cycle that it is. The reports showed that the prohibition of death in society is still very present, which prevents that discussions about the issue are present in daily life. This study provided for participants to reflect on their experiences around the phenomenon of death and, consequently, about the inseparable relationship between living and dying. It has also reiterated the literature, showing the similarity of views among the family members of three generations face a vital phenomenon potentially impacting the life cycle of individual and family.

Compreendendo a dinâmica familiar de adolescentes expostos a violência sexual intrafamiliar

Violence in adolescence, specifically sexual violence, is a topic of great relevance. Not only in Brazil but the world has witnessed the increase of sexual violence, becoming the most prevalent morbid occurrence in adolescence. Draws attention to the phenomenon of sexual violence against children and adolescents not only the fact that most of the victims are assaulted in their own home environment, but also the type of relationship between victim and aggressor. Thus, based on systemic approach, this study aimed to compose eend family dynamics of adolescent victims of sexual intra-familial. Participants were seven teenagers and their parents, users and beneficiaries of services offered by CREAS - Reference Center for Specialized Social Assistance in a municipality of Mato Grosso do Sul. The instruments used were the Test of Drawing in Colour of the Family (FCDT) and a questionnaire about the pictures taken and family interactions. The results indicated the difficulty in differentiating family roles, especially regarding the differentiation of the mother and daughter, a fact that seemed to be the motivator for the impoverishment of individuation in groups. Also noted the presence of conflict between the familiar figures probably originated from this abusive situation. In this context, the studied families showed communication difficulties between family members, hindering the integration between them, as well as the existence of an authoritarian leadership and strict rules performed by the father figure. These results may support preventive and therapeutic actions to situations of sexual violence against children and adolescents. Thus, it is suggested that psychological counseling for the study participants and other stakeholders with a view to reducing damage and recovery of quality of life for all family members, as well as the need for further studies in the area in question.

High-intensity interval training and hypertension: Maximizing the benefits of exercise?

Essential arterial hypertension is the most common risk factor for cardiovascular morbidity and mortality. Regular exercise is a well-established intervention for the prevention and treatment of hypertension. Continuous moderate-intensity exercise training (CMT) that can be sustained for 30 min or more has been traditionally recommended for hypertension prevention and treatment. On the other hand, several studies have shown that high-intensity interval training (HIT), which consists of several bouts of high-intensity exercise (~85% to 95% of HRMAX and/or VO2MAX lasting 1 to 4 min interspersed with intervals of rest or active recovery, is superior to CMT for improving cardiorespiratory fitness, endothelial function and its markers, insulin sensitivity, markers of sympathetic activity and arterial stiffness in hypertensive and normotensive at high familial risk for hypertension subjects. This compelling evidence suggesting larger beneficial effects of HIT for several factors involved in the pathophysiology of hypertension raises the hypothesis that HIT may be more effective for preventing and controlling hypertension.

Papiloma de plexo coroide em um cão

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Características tomográficas de neoplasias encefálicas primárias em cães

Computed tomography (CT) can be considered an important test to identify the presence of primary brain neoplasias in dogs. CT results can help define the type of brain tumor when associated with clinical findings. It allows the identification of lesions and their features, such as size, location, compression and invasion of adjacent tissue. One must analyze the density, mass effect, peritumoral edema, calcification, and image enhancement after intravenous injection of contrast medium. Gliomas, meningiomas and tumors of the choroid plexus and pituitary are the most common primary brain neoplasms diagnosed by CT in dogs. The aim of this paper is to review the literature related to primary brain tumors and report their most important tomographic features, in order to help clinicians achieve a presumptive diagnosis of tumor type.

Identificação de genes de predisposição à síndrome dos carcinomas de mama e tireoide por sequenciamento total do exoma

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)