Investigation Of Genetic Factors Underlying Typical Orofacial Clefts: Mutational Screening And Copy Number Variation.

Typical orofacial clefts (OFCs) comprise cleft lip, cleft palate and cleft lip and palate. The complex etiology has been postulated to involve chromosome rearrangements, gene mutations and environmental factors. A group of genes including IRF6, FOXE1, GLI2, MSX2, SKI, SATB2, MSX1 and FGF has been implicated in the etiology of OFCs. Recently, the role of the copy number variations (CNVs) has been studied in genetic defects and diseases. CNVs act by modifying gene expression, disrupting gene sequence or altering gene dosage. The aims of this study were to screen the above-mentioned genes and to investigate CNVs in patients with OFCs. The sample was composed of 23 unrelated individuals who were grouped according to phenotype (associated with other anomalies or isolated) and familial recurrence. New sequence variants in GLI2, MSX1 and FGF8 were detected in patients, but not in their parents, as well as in 200 control chromosomes, indicating that these were rare variants. CNV screening identified new genes that can influence OFC pathogenesis, particularly highlighting TCEB3 and KIF7, that could be further analyzed. The findings of the present study suggest that the mechanism underlying CNV associated with sequence variants may play a role in the etiology of OFC.

The Metabolic Syndrome And Sexual Function In Climacteric Women: A Cross-sectional Study.

Studies have associated the metabolic syndrome with poor sexual function; the results, however, are controversial. To evaluate the relationship between the metabolic syndrome and sexual function and to identify the factors associated with poor sexual function. A secondary analysis of a cross-sectional cohort study including 256 women of 40-60 years of age receiving care at the outpatient department of a university teaching hospital. A specific questionnaire was applied to collect sociodemographic and behavioral data, and the Short Personal Experience Questionnaire was used to evaluate sexual function, with a score ≤ 7 being indicative of poor sexual function. Anthropometric measurements, blood pressure, fasting glucose, high-density lipoprotein, total cholesterol, triglycerides, follicle-stimulating hormone and thyroid stimulating hormone levels were determined. The prevalence of the metabolic syndrome, as defined by the International Diabetes Federation, was 62.1%, and the prevalence of poor sexual function was 31.4%. The only factor related to female sexual function that was associated with the metabolic syndrome was sexual dysfunction in the woman's partner. The factors associated with poor sexual function in the bivariate analysis were age >50 years (P=0.003), not having a partner (P<0.001), being postmenopausal (P=0.046), the presence of hot flashes (P=0.02), poor self-perception of health (P=0.04), partner's age ≥ 50 years, and time with partner ≥ 21 years. Reported active (P=0.02) and passive (P=0.01) oral sex was associated with an absence of sexual dysfunction. In the multiple regression analysis, the only factor associated with poor sexual function was being 50 years of age or more. The prevalence of the metabolic syndrome was high and was not associated with poor sexual function in this sample of menopausal women. The only factor associated with poor sexual function was being over 50 years of age.

Factors Controlling The Deposition Of Silk Fibroin Nanofibrils During Layer-by-layer Assembly.

The layer-by-layer technique has been used as a powerful method to produce multilayer thin films with tunable properties. When natural polymers are employed, complicated phenomena such as self-aggregation and fibrilogenesis can occur, making it more difficult to obtain and characterize high-quality films. The weak acid and base character of such materials provides multilayer systems that may differ from those found with synthetic polymers due to strong self-organization effects. Specifically, LbL films prepared with chitosan and silk fibroin (SF) often involve the deposition of fibroin fibrils, which can influence the assembly process, surface properties, and overall film functionality. In this case, one has the intriguing possibility of realizing multilayer thin films with aligned nanofibers. In this article, we propose a strategy to control fibroin fibril formation by adjusting the assembly partner. Aligned fibroin fibrils were formed when chitosan was used as the counterpart, whereas no fibrils were observed when poly(allylamine hydrochloride) (PAH) was used. Charge density, which is higher in PAH, apparently stabilizes SF aggregates on the nanometer scale, thereby preventing their organization into fibrils. The drying step between the deposition of each layer was also crucial for film formation, as it stabilizes the SF molecules. Preliminary cell studies with optimized multilayers indicated that cell viability of NIH-3T3 fibroblasts remained between 90 and 100% after surface seeding, showing the potential application of the films in the biomedical field, as coatings and functional surfaces.

Número cromossômico em espécies brasileiras de Adesmia DC. (Leguminosae-Faboideae)

Chromosome numbers of 11 South-Brazilian species of Adesmia were determined. The cytological preparations were obtained by squashing cells of root tips, using the acetic-orcein method. The chromosome number for all the species studied was 2n=20, excepting A. incana var. incana with 2n=ca.40. The counts are new for nine species, and the other two agree with the literature. It is suggested x=10 as the basic number for the genus. Up to the present only four species were cited as polyploid.

Familial glioblastoma

The authors describe a family with three members affected by glioblastoma. The proband patient, a 7 year-old girl, developed a rare complication, a pulmonary metastasis. Chromosomal analysis of her peripheral blood lymphocytes showed a normal karyotype (46, XX), without structural abnormalities. Cytogenetic study of the tumor cells disclosed several abnormalities: 46, XX, 7q - / 46, XX, -2, 4p-, 7p-, +15/ 46, XX. Some aspects about genetics of glial neoplasms are discussed.

Metodos de avaliação em Educação Fisica no ensino fundamental

Universidade Estadual de Campinas . Faculdade de Educação Física

Pedagogia do esporte : o livro didatico como um mediador no processo de ensino e aprendizagem dos jogos esportivos coletivos

Universidade Estadual de Campinas . Faculdade de Educação Física

Karyological study of Amphisbaena ridleyi (Squamata, Amphisbaenidae), an endemic species of the Archipelago of Fernando de Noronha, Pernambuco, Brazil

The karyotype of Amphisbaena ridleyi, an endemic species of the archipelago of Fernando de Noronha, in State of Pernambuco, Brazil, is described after conventional staining, Ag-NOR impregnation and fluorescence in situ hybridization (FISH) with a telomeric probe. The diploid number is 46, with nine pairs of macrochromosomes (three metacentrics, four subtelocentrics and two acrocentrics) and 14 pairs of microchromosomes. The Ag-NOR is located in the telomeric region of the long arm of metacentric chromosome 2 and FISH revealed signals only in the telomeric region of all chromosomes. Further cytogenetic data on other amphisbaenians as well as a robust phylogenetic hypothesis of this clade is needed in order to understand the evolutionary changes on amphisbaenian karyotypes.

Astyanax hastatus Myers, 1928 (Teleostei, Characidae): a new species complex within the genus Astyanax?

Four populations of Astyanax hastatus Myers 1928 from the Guapimirim River basin (Rio de Janeiro State) were analyzed and three distinct cytotypes identified. These cytotypes presented 2n = 50 chromosomes, with 4M+8SM+10ST+28A (Cytotype A), 8M+10SM+14ST+18A (Cytotype B), 6M+8SM+4ST+32A (Cytotype C) and scanty heterochromatin, mainly located throughout pericentromeric regions of several chromosomal pairs. No homologies with the As-51 satellite DNA were observed in the three cytotypes, although all of them presented multiple 18S rDNA sites, as detected by both silver nitrate staining and FISH (fluorescent in situ hybridization). The application of the term "species complex" in Astyanax is discussed from a cytotaxonomic viewpoint.

Use of chromosome microdissection in fish molecular cytogenetics

Chromosome microdissection is a technique in which whole chromosomes or chromosomal segments are dissected under an inverted microscope yielding chromosome-specific sequences. Several protocol modifications introduced during the past 15 years reduced the number of chromosomes required for most applications. This is of particular interest to fish molecular cytogenetics, since most species present highly uniform karyotypes which make impossible the collection of multiple copies of the same chromosome. Probes developed in this manner can be used to investigate chromosome homologies in closely related species. Here we describe a protocol recently used in the gymnotiform species group Eigenmannia and review the major steps involved in the generation of these markers focusing on protocol modifications aiming to reduce the number of required chromosomes.

Cytogenetic characterization of the strongly electric Amazonian eel, Electrophorus electricus (Teleostei, Gymnotiformes), from the Brazilian rivers Amazon and Araguaia

A karyotype analysis of the electric eel, Electrophorus electricus (Teleostei, Gymnotiformes), a strongly electric fish from northern South America, is presented. Two female specimens were analyzed, one from the Amazon River and one from the Araguaia River. The specimens had a chromosomal number of 2n = 52 (42M-SM + 10A). C-bands were present in a centromeric and pericentromeric position on part of the chromosomes; some interstitial C-bands were also present. Heteromorphic nucleolus organizer regions (NORs) were detected in two chromosome pairs of the specimen from the Amazon River. The chromosome number and karyotype characteristics are similar to those of other Gymnotidae species. The genera Electrophorus and Gymnotus are positioned as the basal lineages in the Gymnotiformes phylogeny.

Relação conjugal, violência psicológica e complementaridade fusional

Neste artigo abordamos um tipo específico de dinâmica conjugal marcada pela violência psicológica. Na clínica com casais, temos observado situações nas quais são utilizadas agressões verbais e humilhações, que afetam a auto-estima e a capacidade de reação e decisão da pessoa agredida. Forma-se um laço perverso caracterizado por um movimento recíproco no sentido do domínio do parceiro, com condições e exigências que submetem a ambos, levando a um tipo de relação na qual impera a complementaridade fusional. O discurso característico da contemporaneidade, de obtenção de prazer e busca da perfeição nos relacionamentos amorosos e da presença do modelo igualitário nas relações homem/mulher, põe em destaque esse tipo de dinâmica relacional. Observa-se, em alguns casos, uma fixação do modelo "homem-ativo-fálico/mulher-passiva-castrada" que permanece subjacente à mudança dos tempos.

Cytogenetic analysis of Astylus antis (Perty, 1830) (Coleoptera, Melyridae): Karyotype, heterochromatin and location of ribosomal genes

Cytogenetic analysis of Astylus antis using mitotic and meiotic cells was performed to characterize the haploid and diploid numbers, sex determination system, chromosome morphology, constitutive heterochromatin distribution pattern and chromosomes carrying nucleolus organizer regions (NORs). Analysis of spermatogonial metaphase cells revealed the diploid number 2n = 18, with mostly metacentric chromosomes. Metaphase I cells exhibited 2n = 8II+Xyp and a parachute configuration of the sex chromosomes. Spermatogonial metaphase cells submitted to C-banding showed the presence of small dots of constitutive heterochromatin in the centromeric regions of nearly all the autosomes and on the short arm of the X chromosome (Xp), as well as an additional band on one of the arms of pair 1. Mitotic cells submitted to double staining with base-specific fluorochromes (DAPI-CMA3) revealed no regions rich in A+T or G+C sequences. Analysis of spermatogonial mitotic cells after sequential Giemsa/AgNO3 staining did not reveal any specific mark on the chromosomes. Meiotic metaphase I cells stained with silver nitrate revealed a strong impregnation associated to the sex chromosomes, and in situ hybridization with an 18S rDNA probe showed ribosomal cistrons in an autosomal bivalent.

Fatores associados a não realização da mamografia e do exame clínico das mamas: um estudo de base populacional em Campinas, São Paulo, Brasil

O objetivo deste estudo é analisar a prevalência da não realização do exame clínico das mamas e da mamografia segundo variáveis sócio-econômicas, demográficas e de comportamentos relacionados à saúde, em mulheres com 40 anos ou mais, residentes na cidade de Campinas, São Paulo, Brasil. O estudo foi do tipo transversal, de base populacional em uma amostra de 290 mulheres. Os fatores associados à não realização da mamografia, encontrados na análise multivariada, foram: ter 70 anos ou mais, ser de raça/cor negra e pertencer ao segmento de menor renda familiar per capita; e para a não realização do exame clínico das mamas foram: não ter companheiro e pertencer ao segmento de menor renda familiar per capita. O SUS foi responsável pela realização de 28,8% das mamografias e 38,2% dos exames clínicos das mamas. Verificou-se que a não realização dos exames preventivos para o câncer de mama está associada à existência de desigualdade racial e social, apontando para a necessidade de implementação de estratégias para a ampliação da cobertura das práticas preventivas para o câncer de mama, especialmente para os segmentos sociais mais vulneráveis.

Consumo abusivo e dependência de álcool em população adulta no Estado de São Paulo, Brasil

OBJETIVO: Descrever as prevalências de consumo abusivo e dependência de álcool em população adulta de 20 a 59 anos no Estado de São Paulo, e suas associações com variáveis demográficas e socioeconômicas. MÉTODOS: Inquérito domiciliar do tipo transversal (ISA-SP), em quatro áreas do Estado de São Paulo: a) Região Sudoeste da Grande São Paulo, constituída pelos Municípios de Taboão da Serra, Itapecerica da Serra e Embu; b) Distrito do Butantã, no Município de São Paulo; c) Município de Campinas e; d) Município de Botucatu. Foi considerado consumo abusivo de álcool a ingestão em dia típico de 30 gramas ou mais de etanol para os homens, e 24 gramas ou mais para as mulheres. A dependência de álcool foi caracterizada pelo questionário CAGE. Análises bivariadas e multivariadas dos dados foram realizadas a partir de Modelos de Regressão de Poisson. Todas as análises foram estratificadas por sexo. RESULTADOS: Em 1.646 adultos entrevistados, a prevalência de consumo abusivo de álcool foi de 52,9% no sexo masculino e 26,8% no sexo feminino. Quanto à dependência de álcool, foram observadas duas ou mais respostas positivas no teste CAGE em 14,8% dos homens e em 5,4% das mulheres que relataram consumir álcool. Isto corresponde a uma prevalência populacional de dependência de 10,4% nos homens e 2,6% nas mulheres. O consumo abusivo de álcool no sexo masculino apresentou associação inversa à faixa etária e associação direta à escolaridade e ao tabagismo. No sexo feminino, observou-se associação direta do consumo abusivo de álcool com a escolaridade e o tabagismo, e com as situações conjugais sem companheiro. A dependência de álcool no sexo masculino associou-se a não exercer atividade de trabalho e à baixa escolaridade. No sexo feminino não houve associação do CAGE com nenhuma das variáveis estudadas. CONCLUSÕES: Pela alta prevalência de consumidores e dependentes, é essencial a identificação dos segmentos sociodemográficos mais vulneráveis ao consumo abusivo e dependência de álcool. As associações entre a dependência/abuso e não estar exercendo atividade de trabalho, no sexo masculino, e a maior prevalência em mulheres de escolaridade universitária, sugerem componentes para programas de intervenção e controle.