Genetic polymorphism of Streptococcus mutans in Brazilian family members

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

A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

HB D Los Angeles in a Brazilian family

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

MODY 2: Mutation identification and molecular ancestry in a Brazilian family

Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of genetic diseases characterized by a primary defect in insulin secretion and hyperglycemia, non-ketotic disease, monogenic autosomal dominant mode of inheritance, age at onset less than 25. years, and lack of auto-antibodies. It accounts for 2-5% of all cases of non-type 1 diabetes. MODY subtype 2 is caused by mutations in the glucokinase (GCK) gene. In this study, we sequenced the GCK gene of two volunteers with clinical diagnosis for MODY2 and we were able to identify four mutations including one for a premature stop codon (c.76C>T). Based on these results, we have developed a specific PCR-RFLP assay to detect this mutation and tested 122 related volunteers from the same family. This mutation in the GCK gene was detected in 21 additional subjects who also had the clinical features of this genetic disease. In conclusion, we identified new GCK gene mutations in a Brazilian family of Italian descendance, with one due to a premature stop codon located in the second exon of the gene. We also developed a specific assay that is fast, cheap and reliable to detect this mutation. Finally, we built a molecular ancestry model based on our results for the migration of individuals carrying this genetic mutation from Northern Italy to Brazil. © 2012 Elsevier B.V.

A newly recognized syndrome of marfanoid habitus; Long face; Hypotelorism; Long, thin nose; Long, thin hands and feet; and a specific pattern of language and learning disabilities

Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance. (C) 2007 Wiley-Liss, Inc.

Tele-education on Leprosy: Evaluation of an Educational Strategy

The purpose of this research was to evaluate educational strategies applied to a tele-education leprosy course. The curriculum was for members of the Brazilian Family Health Team and was made available through the São Paulo Telehealth Portal. The course educational strategy was based on a constructivist learning model where interactivity was emphasized. Authors assessed motivational aspects of the course using the WebMAC Professional tool. Forty-eight healthcare professionals answered the evaluation questionnaire. Adequate internal consistency was achieved (Cronbach's alpha = 0.79). More than 95% of queried items received good evaluations. Multidimensional analysis according to motivational groups of questions (STIMULATING, MEANINGFUL, ORGANIZED, EASY-TO-USE) showed high agreement. According to WebMAC's criteria, it was considered an awesome course. The tele-educational strategies implemented for leprosy disclosed high motivational scores.

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3

Amelogenesis imperfecta (AI) is a collective term used to describe phenotypically diverse forms of defective tooth enamel development. AI has been reported to exhibit a variety of inheritance patterns, and several loci have been identified that are associated with AI. We have performed a genome-wide scan in a large Brazilian family segregating an autosomal dominant form of AI and mapped a novel locus to 8q24.3. A maximum multipoint LOD score of 7.5 was obtained at marker D8S2334 (146,101,309 bp). The disease locus lies in a 1.9 cM (2.1 Mb) region according to the Rutgers Combined Linkage-Physical map, between a VNTR marker (at 143,988,705 bp) and the telomere (146,274,826 bp). Ten candidate genes were identified based on gene ontology and microarray-facilitated gene selection using the expression of murine orthologues in dental tissue, and examined for the presence of a mutation. However, no causative mutation was identified.

Saúde da Família: O desafio de uma atenção coletiva

The Family Health Strategies, incorporated by the Ministry of Health in 1994, has consolidated the national policy of health care that has as its main care focus the family. In this model, this institution constitutes the first object of attention, understood from its environment and interaction. In recent decades, the Brazilian family structure is suffering profound changes that directly affect the practices of health care. This study redeem the family concepts and ideas and their social representations and still prove and present the importance and the necessity of the use of these ample instruments of collective boarding in health area: the APGAR, the genogram and eco-map, using the environment observation and family history - crucial factors to the reality of the nuclear family diagnosis - for further planning of health action strategies. It was concluded that the current structure of the family require training from the health teams, for physical, cultural, biological and social points of the family context for the correct use of the instruments cited, important tools for collective approach in the public health area.

Famílias monoparentais femininas: um olhar sobre este arranjo familiar na cidade de Uberaba-MG

Pós-graduação em Serviço Social - FCHS

A sinfonia da educação: novas perspectivas para atuação do profissional de Serviço Social na escola

Pós-graduação em Serviço Social - FCHS

Metamorfoses da medicalização e seus impactos na família brasileira

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

The Flower Workshop: a social self-organizing practice in mental health nursing

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

Identification of the Communicative Abilities of Brazilian Children With Cerebral Palsy in the Family Context

This article highlights the importance of the information obtained from the family in the implementation of the augmentative and alternative communication (AAC) system. The objective was to investigate the communicative abilities of children with severe communication deficit through their parents' reports within the family routine. Eleven parents of children affiliated with a rehabilitation program in a public university in Brazil participated in this research. Per their parents' reports, the children demonstrated a variety of communication skills related to comprehension, expressive skills, and vocabulary. Parents further reported their children's daily communication routines including social partners, communication environment, and the materials the children enjoyed the most. These results emphasize the importance of family involvement in planning AAC so that it is functional within the family context.

Cytogenetics studies in Brazilian species of Pseudophyllinae (Orthoptera: Tettigoniidae): 2n(♂)=35 and fn=35 the probable basic and ancestral karyotype of the family tettigoniidae

The karyotypes of five species of Brazilian Pseudophyllinae belonging to four tribes were here studied. The data available in the literature altogether with those obtained with species in here studied allowed us to infer that 2n(♂)=35 is the highest chromosome number found in the family Tettigoniidae and that it is present in species belonging to Pseudophyllinae, Zaprochilinae and in one species of Tettigoniinae. In spite of that all five species exhibit secondary karyotypes arisen surely by a mechanism of chromosomal rearrangement of centric fusion, tandem fusion and centric inversion types from those with 2n(♂)=35 and FN=35, they share some common traits. The X chromosome is submetacentric (FN=36), heteropicnotic during the first prophase, the largest of the set but its size is rather variable among the species and the sex chromosomal mechanism is of the XO( ♂ ), XX( ♀ ) type. The chromosomal rearrangements involved in the karyotype evolution of the Pseudophyllinae and its relationship with those of the family Tettigoniidae are discussed and we propose that the basic and the ancestral karyotype of the Tettigoniidae is formed by 2n(♂)=35, FN=35 and not by 2n(♂)=31, FN= 31, as usually accepted.

Comparative analysis of the male reproductive accessory glands of bat species from the five Brazilian subfamilies of the family Phyllostomidae (Chiroptera)

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