A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations

In a collaborative work carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG), a polymerase chain reaction multiplex was optimized in order to type ten X-chromosome short tandem repeats (STRs) in a single reaction, including: DXS8378, DXS9902, DXS7132, DXS9898, DXS6809, DXS6789, DXS7133, GATA172D05, GATA31E08, and DXS7423. Using this X-decaplex, each 17 of the participating laboratories typed a population sample of approximately 200 unrelated individuals (100 males and 100 females). In this work, we report the allele frequencies for the ten X-STRs in 15 samples from Argentina (Buenos Aires, CA(3)rdoba, Rio Negro, Entre Rios, and Misiones), Brazil (SA o pound Paulo, Rio de Janeiro, Parana, and Mato Grosso do Sul), Colombia (Antioquia), Costa Rica, Portugal (Northern and Central regions), and Spain (Galicia and Cantabria). Gene diversities were calculated for the ten markers in each population and all values were above 56%. The average diversity per locus varied between 66%, for DXS7133, and 82%, for DXS6809. For this set of STRs, a high discrimination power was obtained in all populations, both in males (a parts per thousand yen1 in 5 A- 10(5)) and females (a parts per thousand yen1 in 3 A- 10(9)), as well as high mean exclusion chance in father/daughter duos (a parts per thousand yen99.953%) and in father/mother/daughter trios (a parts per thousand yen99.999%). Genetic distance analysis showed no significant differences between northern and central Portugal or between the two Spanish samples from Galicia and Cantabria. Inside Brazil, significant differences were found between Rio de Janeiro and the other three populations, as well as between SA o pound Paulo and Parana. For the five Argentinean samples, significant distances were only observed when comparing Misiones with Entre Rios and with Rio Negro, the only two samples that do not differ significantly from Costa Rica. Antioquia differed from all other samples, except the one from Rio Negro.

Status sócio econômico e deficiência intelectual em escolares

Raven's Progressive Matrices were completed by 536 school children. Wechsler's Intelligence Scale for Children was applied to children who performed badly on Raven's Test (percentile 5 or less). Father's occupation and education, items of property and sums of spending money were assessed in all families. Clinical history and physical examination were recorded for deficient children. Mental deficiency was present in 94 children (17.5%); it was more frequent in those from lower socioeconomic classes (90 deficient children in a total of 427); it was more frequent in the peripheral school (69 deficient children) than in the midtown school (relatively less poor children); no significant difference was found in sex distribution among social classes. 67 children had an intelligence quotient between 50 and 69. Undernourishment was severe marked (18 children), moderate (48 children) or absent (26 children). Most children (67) were insufficiently stimulated by their parents.

Seleção de espermatozoides para ICSI

The application of assisted reproduction techniques has provided help to many men seeking to father a child, although the current success of these procedures remains suboptimal. Today some protocols allow sperm to be selected according to their ultrastructural morphology or surface molecular characteristics. On the other hand, successful human reproduction relies partly on the inherent integrity of sperm DNA. Therefore, it is now necessary to improve the safety of the sperm selection method. It is urgent to optimize procedures to isolate spermatozoa for ICSI with low risk of DNA damage. In recent years, two technologies have attracted the attention of specialists as methods capable of identifying a spermatozoon with low risk of DNA damage: Ultrastructural morphology sperm selection at high magnification and sperm head birefringence selection. This review analyses these two technologies. © Todos os direitos reservados a SBRA - Sociedade Brasileira de Reprodução Assistida.

Aspectos relacionais, familiares e sociais da relação pai-filho com deficiência física

The survey sought information from the relationship between father and child with disability regarding space, responsibilities and feelings in the parental relationship. Ten fathers, aged 31 to 66 years, with varied educational and professional backgrounds, answered a questionnaire with 19 semi-structured questions grouped into 16 categories of analysis. The conclusion showed that fathers perceive disability differently over time. The information usually comes from a doctor, but when the disability is not very evident, and doesn't cause significant impairment, realization comes over time. The shock of the discovery and behaviors of rejection are major feelings for fathers. Most fathers report differences in roles played by women and men in raising children; they believe that their responsibility is to provide for the family, while the mother's duty is to accompany the child. They feel that they share with the mothers the responsibility for caring for the child and, in general they don't feel they have been accused of being distant. They try to follow the child's treatment. The children are as attached to them as to other family members. To live with a minimum of quality of life they agreed unanimously about the need for greater income and benefits from social welfare. Most recognize that they are afraid of having other children with disabilities. They express low expectations for the total independence of the children, and among the fathers who have more than one child, the majority acknowledged the existence of differential treatment. They attributed the causes to medical errors. Fathers feel much the same as mothers, but they have different ways of demonstrating what they feel.

SED-brachydactyly and distinctive speech: Report of a new familial case

Background: Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS) is a syndrome characterized by short stature, disproportionately short limbs, peculiar face, thick and abundant hair, high-pitched and coarse voice, small epiphyses, brachymetacarpalia, brachymetatarsalia and brachy-phalangia of fingers and toes, small pelvis and delayed carpal bone age, among other features. Case Report: We report a Brazilian patient with father, brother and sister presenting with the same typical features of the syndrome. Clinically, he showed disproportionately short stature, rhizo-meso-acromelic shortness of the extremities, short hands and feet, a peculiar distinctive high-pitched voice, peculiar facies, and other features already reported as characteristic of this syndrome. Radiographic fndings included shape anomalies of the vertebral bodies such as cuboid-shaped vertebral bodies, mild scoliosis, short and broad tubular bones, brachymetacarpalia, brachymetatarsalia, and brachy-dactyly, lumbar hyperlordosis, generalized osteopenia, and hypoplastic iliac wings. Conclusions: Few cases have been described, as this is a rare skeletal dysplasia. This paper describes a new familial case of SED-BDS. © The American Journal of Case Reports.

O teatro experimental do negro -: estudo da personagem negra em duas peças encenadas (1947-1951)

Pós-graduação em Artes - IA

Perfil audiológico e genético de pacientes com perda auditiva sensorioneural não sindrônica atendidos no Hospital das Clínicas da Faculdade de Medicina de Botucatu-Universidade Estadual Paulista

Pós-graduação em Bases Gerais da Cirurgia - FMB

Entre os discursos, as representações e as práticas: crianças e jovens empregadas domésticas na cidade de Marília

Pós-graduação em Ciências Sociais - FFC

Políticas públicas e direitos humanos em Jürgen Habermas

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

O sentido da autoridade nas destituições do poder familiar em Marília a partir dos relatos dos operadores do direito na perspectiva do gênero

Pós-graduação em Ciências Sociais - FFC

Percepções de mães e crianças das relações familiares permeadas por violência sexual do pai contra a filha: análise de variáveis

Pós-graduação em Psicologia do Desenvolvimento e Aprendizagem - FC

Conto de escola: uma metáfora da sociedade

Pós-graduação em Educação - IBRC

A Companhia de Jesus e a formação da cultura sexual brasileira: um estudo histórico e documental a partir dos escritos do padre Manuel da Nóbrega

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Relato e realidade nas cartas brasileiras do Padre Antônio Vieira: uma visão cognitivista e cultural

Pós-graduação em Linguística e Língua Portuguesa - FCLAR

Socialização linguageira, aspectos culturais e uso de code-switching em uma criança bilíngue

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)