Análise do gene TUBB3 e de Copy Number Variations em pacientes com Polimicrogiria

A polimicrogiria (PMG) é uma malformação do córtex cerebral causada por falhas no seu desenvolvimento, caracterizando-se por um número excessivo de pequenos giros e laminação anormal, dando à superfície cortical uma aparência irregular e grosseira. A gravidade de suas manifestações clínicas se relaciona diretamente com a extensão da malformação e das regiões cerebrais afetadas, sendo que a presença de lesões bilaterais ou unilaterais extensas indica um pior prognóstico. Uma das síndromes de polimicrogiria mais freqüentes e, conseqüentemente, mais bem descritas clinicamente, é a polimicrogiria perisylviana bilateral (PPB). Essa forma de PMG atinge a região que tange a fenda Sylviana, podendo apresentar-se tanto unilateralmente quanto em ambos os hemisférios. Vários genes têm sido relacionados a diferentes formas de polimicrogiria, são eles AFF2,TUBA1A, TUBB2B e TUBA8, SRPX2 e WDR62. Estes genes já foram estudados pelo nosso grupo de pesquisa em um grupo de pacientes compostos de casos familiares e esporádicos, acometidos em sua maioria pela forma perisylviana de PMG. Nenhuma variante deletéria foi identificada nestes genes. Recentemente um novo gene foi implicado na etiologia molecular das PMG, o TUBB3. O gene em questão pertence à mesma família de TUBA1A, TUBB2B e TUBA8 e codifica uma proteína de ligação aos microtúbulos, tendo importante papel na formação do fuso. Além deste gene, também tem sido descritas alterações genômicas, denominadas de Copy Number Variations (CNV), estas variações estruturais tem sido associadas com diversos distúrbios neurológicos, que vão desde transtornos psiquiátricos até malformações do córtex cerebral como a PMG. Desta forma, o objetivo deste trabalho foi analisar a existência de alterações de ponto deletérias no gene TUBB3 em pacientes com PMG e também, o envolvimento de CNVsna etiologia deste tipo de malformação ...

Avaliação das alterações dentárias e esqueléticas induzidas pelo uso do aparelho de Herbst no tratamento da classe II na dentadura mista: Revisão sistemática

Objective: evaluate the immediate dental and skeletal changes induced by the Herbst appliance on early treatment of Angle´s Class II malocclusion. Material and Method: several electronic databases such as Scopus, Pub Med, Medline, Cochrane Library, Lilacs and Scielo were searched. The abstracts that fullfilled the selection criteria were selected and those that did not provide enough information about these criteria were selected but the final decision of including them or not on the research, was taken after the complete reading of the article. The selection criteria were: clinical studies with Class II individuals, both male and female, with initial age of 7 to 10 years, treated with the Herbst appliance that analysed the dental and/or skeletal changes evaluated on lateral cephalometric radiographs; researches where the treatment performed did not involve extractions or surgical interventions; studies that included patients without syndromes or health concerns and articles published in English or Portuguese. Results and Conclusions: five articles were selected. The articles showed that significant changes happened in the mandibular sagittal lenght, on facial convexity angle, on maxillo-mandibular relationship, on retroclination of the upper incisors and on distal movement of the upper molars, on proclination of the lower incisors and on extrusion of the lower molars. The appliance exerted a limited effect on the anterior relocation of the maxillary complex and on facial heights. However, more studies about the performance of the Herbst appliance on early treatment of Class II are needed.

Cortical correlates of affective syndrome in dementia due to Alzheimer’s disease

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

Análise de Alterações Cromossômicas, Mutações no Éxon 1 e do Padrão de Metilação da Região Promotora do Gene FOXO3 em Síndrome Mielodisplásica

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Preferential consumption of larger fruits of Piper arboreum (Piperaceae) by Carollia perspicillata (Phyllostomidae) in the Brazilian tropical dry forest

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Estudo randonizado duplo-cego da capacidade funcional e da prática de atividade física em indivíduos com diagnóstico polissonográfico de SAOS antes e após uso de CPAP

Pós-graduação em Bases Gerais da Cirurgia - FMB

Repercussões cardiovasculares em crianças com distúrbios respiratórios obstrutivos do sono: revisão de literatura

Objective: To review the cardiovascular consequences of obstructive sleep-disordered breathing in children Data source: Medline and Ovid data base. Study selection: pediatric articles (original articles and case report) that investigated the obstructive sleep-disordered breathing in children Data synthesis: The obstructive sleep-disordered breathing can lead to serious cardiovascular consequences such as pulmonary hypertension, pulmonary edema and anatomic and functional abnormalities Conclusions: The knowledge of cardiovascular repercussions allows in better management of pediatric patients and may result in positive consequences for treatment and follow up of these patients.

Signos neurológicos asociados a pacientes caninos con linfoma

Cancer alters the structure or functions of adjacent organs with their sole presence, and subsequent clinical manifestations, but can also cause harmful effects in distant organs. These clinical changes induced by non-invasive tumor action are of great clinical diversity and are known as paraneoplastic syndromes. This paper describes four cases of canine patients with neurological disorders associated to generalized superficial lymphadenopathy.

Quantificação de citocinas no conteúdo abomasal de bovinos de corte na presença ou ausência de ulceração gástrica

Pós-graduação em Ciência Animal - FMVA

Projeto: de médico e louco, todo mundo tem um pouco - algumas considerações sobre TOC´s e Design de Moda

Identify the needs of different target audiences and solve them with the application of principles and elements of design in fashion products, the objectives of the project were "from a doctor and crazy, everyone has a few" from the academics of Fashion Design UNIPAR / Cianorte. To Avoid clichés, educate the community and yourself about OCD´s, syndromes, phobias and quirks, maximized the positive balance of the project.

Relaxamento progressivo, stress, enfrentamento e qualidade de vida em pessoas com apneia obstrutiva do sono

Pós-graduação em Psicologia do Desenvolvimento e Aprendizagem - FC

Binômio mãe-filho: estudo epidemiológico e de base populacional desenvolvido em maternidades de baixo e alto risco

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

Doença cerebelar em cães e gatos

Diseases of the cerebellar system are common in small animals, and result in a clinical syndrome characterized by hypermetria, base-wide stance and intentional tremors of the head and body. All movements of the limbs are spastic and awkward. The neurological examination assists in the localization of lesions restricted to the cerebellum or in the detection of disorders relating to other parts of the nervous system, which characterizes a multifocal disease process. Neurological disorders in dogs and cats may suggest a very extensive list of differential diagnoses, since they may be caused by infectious, degenerative and traumatic processes, among others. The possible etiologies for cerebellar syndrome include: aplasia and hypoplasia, abiotrophy, cancer, vascular stroke and inflammatory disorders. The aim of this paper is to review the clinical signs that aid in the location of the cerebellar lesion and discuss the possible causes of this syndrome in dogs and cats.

Seleção assistida por marcadores para o melhoramento do desempenho de equinos em corridas

Although equines have participated in the forming and development of several civilizations around the world since their domestication 6,000 years ago in comparison to other species that have zootechnical interest, few researches have been done related to animal breeding area, especially in Brazil. Some reasons for that are difficulties associated with the species as well as operational aspects. However, developments in genetics in the last decades contributed to a better understanding of the traits related to reproduction, heath, behavior and performance of domestic animals, including equines. Recent technologies as next generation sequencing methods and the high density chips of SNPs for genotyping allowed some advances in the researches already done. These researches used basically the candidate gene strategy, and identified genomic regions related to diseases and syndromes and, more recently, the performance in sport competition and specific abilities. Using these genomic analysis tools, some regions related to race performance have been identified and based on this information; genetic tests to select superior animals for racing performance have started to be available in the market.

Indicadores de qualidade assistencial e Nursing Activities Score análise correlacional em um Hospital Especializado

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)