Estimativa da frequência da inversão SWBinv-1 entre pais de portadores ds síndrome de Williams-Beuren e pais de filhos normais do Brasil

Pós-graduação em Ciências Biológicas (Genética) - IBB

Como se forja o menor: tramas da atenção psicossocial e da proteção social

This essay aims to contribute to discuss public policies of social protection and practice guidelines for psychosocial care. Targeting children and underage adolescents whose documents, even though permeated with egalitarian discourses and promoted actions aimed at the construction of autonomy, continue endorsing welfare guardianship and addressed to the people classified as at-risk through biopolitical, disciplinary and security technologies based on a minority logic. The essay problematizes the ways in which psychology has found legitimacy in practices that eventually looms confinement practices which aspire to move away from, as was evidenced by documents and practices.

Opinião de professores sobre a sexualidade e a educação sexual de alunos com deficiência intelectual

Using a questionnaire for quantitative and qualitative analysis, this descriptive study investigated the opinion of 451 teachers about sexuality and sexual education of students with intellectual disabilities. The majority (94.2%) perceives the sexuality of their students with intellectual disabilities, identifies their desire to date (38.3%), occurrence of questions (35.8%), sexual games and masturbation (19.6%) and the inappropriate behavior (6.3%); before that, they have positive feelings (37.5%) and negative (53.8%). Teachers believe they can contribute to the sexual education of their students (87.8%), however, they considered necessary the own training (39.9%) or the support of the school and the family (24.4%). It is important to invest in continuous training in sexual education for teachers working in inclusive schools.

The therapeutic potential of exercise to treat cachexia

To discuss the role of physical exercise in the attenuation of cancer cachexia-associated symptoms, and upon the outcome of chemotherapy, with special focus on the anti-inflammatory role of chronic exercise. The review addresses the recent findings regarding the positive effects of endurance and strength exercise training upon metabolic dysfunction, systemic inflammation and body composition alterations in the syndrome of cachexia. The employment of different exercise protocol strategies, in respect to intensity, duration, work load and in concomitance with pharmacological treatment is considered. Cachexia is a multifactorial wasting syndrome afflicting patients with cancer, chronic obstructive pulmonary disease, chronic heart failure, trauma, among other diseases. This condition markedly compromises the quality of life, treatment outcome and survival. Recent literature indicates an unequivocal role of chronic exercise in modulating cachexia and other cancer-associated dysfunctions. Exercise is proposed as a complementary treatment in cancer, and represents a function-preserving, anti-inflammatory and metabolism-modulating strategy with low cost, and high versatility and availability. Furthermore, exercise decreases cancer recurrence and presents a positive impact on public health management, reducing hospitalization and medication costs.

Intervenções com a atividade física em crianças e adolescentes com deficiência intelectual: uma meta-análise

Abstract Intellectual disability is development atypical conditions that involve issues on a number of factors, such as intellectual skills, adaptive behavior, interactions and social roles. Furthermore, they report higher rates of physical inactivity than the general population, as well as participating less and less of regular physical activity, as they grow and age. The participation of people with intellectual disabilities in physical activity programs promotes, benefits of prevention of diseases, particularly cardiovascular, improvement of intellectual and cognitive ability in addition, regular physical activity promotes reduction of body fat. Therefore the aim of this study was to identify through a systematic review, physical activity programs for adults with intellectual disabilities and their extension of the benefits, limitations and recommendations, moreover, the following objectives: to analyze the types of physical activity programs and determine which is the most suitable for adults with intellectual disabilities, and to determine the benefits that physical exercises programs entail for adults with intellectual disabilities. The initial electronic search resulted in 2808 manuscripts. The predetermined exclusion criteria were: review process of the studies involved reading titles, abstracts and full texts checking. After all these phases, eight manuscripts met the inclusion criteria of the review. Articles presented participants aged between 18 and 67 years with mild to moderate intellectual disability. The intervention period was from 2.5 months studies ranged up to 9 months and the weekly frequency was from one to three times a week. The intervention types differ between the articles analyzed, including leisure and recreation activities, combined exercises of strength and muscular endurance, aerobic activities of hiking, with races and exercise bikes, widespread activities and sports specialization, athletics and...

Modelo matemático de tratamento de câncer via quimioterapia em ciclos

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Sexualidade e deficiencias: dando vozes aos adolescentes por meio de oficinas pedagógicas

Pós-graduação em Educação Sexual - FCLAR

O trabalho educativo com alunos portadores de deficiência intelectual

Thinking the school as an institution of equal access for every type of kid, youthful, and adult, to education, It was thought for this assignment to focus in inclusive education in defense of the right of all students to be together, learning and participating without any kind of discrimination. Knowing the large scope of the theme Inclusive Education , subdivided by MEC in four types of disabilities, as follows: auditory, visual, motor and intellectual. It was decided to approach here; intellectual disability, to be a disability that covers a vast number of limitations and that is largely present in the school environment. This work will sought to better understand this deficiency and the work with students carrying it into the classroom

Sitios Assistenciais em Unidade de Terapia Intensiva e Relação do Nursing Activities Score com a Infecção Hospitalar

The Patient Classification System has become essential concerning to the practice in management and care from a nurse. This study analyzed the implementation of Assistance Sites in an intensive care unit for adults as a way of organization and classification of patients, as well as the impact of this process on the quality of care according to the Nursing Activities Score and the relation with the Hospital Infection. This is a quantitative, prospective, descriptive and transversal study. The data collection was realized from July until October 2010. The sample was consisted of 214 patients, mostly male, neurosurgical and with a mid age of 57 years. The NAS was on the average of 71.72%. Regarding the Hospital Infection before and after implantation, there was a reduction in the rates of pneumonia. However, the nursing workload remained the same. Moreover, It was evident the importance of using the Nursing Activities Score and the implementation of new ways for classification of patients to improve the organization of the care.

Cuidados paliativos para pacientes em estado terminal em Unidades de Terapia Intensiva: revisão sistemática e metanálise

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Exposição de pacientes com síndrome de dor miofascial (SDM) à capsaicina: desenvolvimento de forma farmacêutica de uso tópico com possível ação analgésica

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

Exposição de pacientes com síndrome de dor miofascial (SDM) à capsaicina: desenvolvimento de forma farmacêutica de uso tópico com possível ação analgésica

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

KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis

Noonan syndrome (NS) and Noonan-related disorders [cardio-facio-cutaneous (CFC), Costello, Noonan syndrome with multiple lentigines (NS-ML), and neurofibromatosis-Noonan syndromes (NFNS)] are a group of developmental disorders caused by mutations in genes of the RAS/MAPK pathway. Mutations in the KRAS gene account for only a small proportion of affected Noonan and CFC syndrome patients that present an intermediate phenotype between these two syndromes, with more frequent and severe intellectual disability in NS and less ectodermal involvement in CFC syndrome, as well as atypical clinical findings such as craniosynostosis. Recently, the first familial case with a novel KRAS mutation was described. We report on a second vertical transmission (a mother and two siblings) with a novel mutation (p.M72L), in which the proband has trigonocephaly and the affected mother and sister, prominent ectodermal involvement. Metopic suture involvement has not been described before, expanding the main different cranial sutures which can be affected in NS and KRAS gene mutations. The gene alteration found in the studied family is in close proximity to the one reported in the other familial case (close to the switch II region of the G-domain), suggesting that this specific region of the gene could have less severe effects on intellectual ability than the other KRAS gene mutations found in NS patients and be less likely to hamper reproductive fitness. (c) 2012 Wiley Periodicals, Inc.

Inflammatory and Immunological parameters in adults with Down syndrome

Abstract Background The increase in life expectancy within the general population has resulted in an increasing number of elderly adults, including patients with Down syndrome (DS), with a current life expectancy of about 50 years. We evaluate the parameters of humoral and cellular immune response, the quantitative expression of the regulator of calcineurin1 gene (RCAN1) and the production of cytokines. The study group consisted of adults DS (n = 24) and a control group with intellectual disability without Down syndrome (ID) (n = 21) and living in a similar environmental background. It was evaluated serology, immunophenotyping, the quantitative gene expression of RCAN1 and the production of cytokines. Results In the DS group, the results showed an increase in NK cells, CD8, decreased CD19 (p < 0.05) and an increase spontaneous production of IFNgamma, TNFalpha and IL-10 (p < 0.05). There was not any difference in RCAN1 gene expression between the groups. Conclusions These data suggest a similar humoral response in the two groups. The immunophenotyping suggests sign of premature aging of the immune system and the cytokine production show a proinflammatory profile.

Estratégias de comunicação utilizadas por profissionais de saúde na atenção à pacientes sob cuidados paliativos

O presente estudo objetivou verificar a relevância e a utilização de estratégias de comunicação em cuidados paliativos. Estudo quantitativo multicêntrico, realizado entre agosto/2008 e julho/2009, junto a 303 profissionais de saúde que trabalhavam com pacientes sob cuidados paliativos, por meio da aplicação de questionário. Os dados foram submetidos a tratamento estatístico descritivo. A maioria (57,7%) não foi capaz de citar ao menos uma estratégia de comunicação verbal e apenas 15,2% mencionaram cinco sinais ou estratégias não verbais. As estratégias verbais mais citadas foram as de cunho interrogativo sobre a doença/tratamento e, dentre as não verbais, destacaram-se o toque afetivo, olhar, sorriso, proximidade física e escuta ativa. Embora os profissionais tenham atribuído alto grau de relevância para a comunicação em cuidados paliativos, evidenciaram escasso conhecimento de estratégias de comunicação. Faz-se necessária a capacitação dos profissionais no que tange à comunicação em cuidados paliativos.