International, collaborative assessment of 146 000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used

The development of chromosome-specific probes (CSP) and fluorescent in-situ hybridization (FISH) has allowed for very rapid identification of selected numerical abnormalities. We attempt here to determine, in principle, what percentage of abnormalities would be detectable if only CSP-FISH were performed without karyotype for prenatal diagnosis. A total of 146 128 consecutive karyotypes for prenatal diagnosis from eight centres in four countries for 5 years were compared with predicted detection if probes for chromosomes 13, 18, 21, X and Y were used, and assuming 100% detection efficiency. A total of 4163 abnormalities (2.85%) were found including 2889 (69.4%) (trisomy 21, trisomy 18, trisomy 13, numerical sex chromosome abnormalities, and triploidies) which were considered detectable by FISH. Of these, 1274 were mosaics, translocations, deletions, inversions, rings, and markers which would not be considered detectable. CSP-FISH is a useful adjunct to karyotype for high risk situations, and may be appropriate in low risk screening, but should not be seen as a replacement for karyotype as too many structural chromosome abnormalities will be misse

Características biomecânicas, ergonômicas e clínicas da postura sentada: uma revisão

A posição sentada é a mais adotada nos ambientes de trabalho, na escola e nas atividades de lazer. Porém, a manutenção prolongada dessa posição ocasiona a adoção de posturas inadequadas e sobrecarrega as estruturas do sistema musculoesquelético, o que pode acarretar dor e lesão na coluna lombar. A presente revisão teve como objetivo identificar os fatores biomecânicos, ergonômicos e clínicos envolvidos na sustentação da postura sentada. Para isso, foram consultadas as bases de dados ISI Web of Knowledge, Medline, Pubmed e EBSCO Host, sendo selecionados 72 artigos publicados entre 1965 e 2010. Foi possível identificar que na posição sentada não existe uma postura ideal a ser sustentada, mas algumas posturas são mais recomendadas do que outras, tal como a postura sentada ereta e a postura lordótica. As cadeiras influenciam o padrão da posição sentada: conforme seu design, pode permitir maior variedade de posturas. Modificações na cadeira e a utilização de exercícios para o aumento da resistência muscular e da propriocepção, bem como a reeducação postural, são intervenções úteis para reduzir o impacto causado pela posição sentada prolongada no sistema musculoesquelético.The sitting posture is the most adopted in work environment, at school and in leisure activities. However, prolonged maintenance of this position causes the adoption of inadequate postures and overloads skeletal muscle structures, which may lead to spine pain and injuries. The purpose of the present review was to identify biomechanic, ergonomic, and clinical features involved in maintenance of the sitting position. The search in ISI Web of Knowledge, Medline, Pubmed and EBSCOHost data bases led to selecting 72 articles published between 1965 and 2010. Results show that there is not an ideal posture to be kept, but some postures are more recommended than others, like the upright sitting and the lordotic postures. Chairs influence the pattern of sitting, and their design allows for posture diversity. Changes in the chair, exercises to improve endurance and proprioception, as well as postural re-education, are useful interventions to reduce the impact of prolonged sitting position on the skeletal muscle system

Comparing Perceived and Objectively Measured Access to Recreational Facilities as Predictors of Physical Activity in Adolescent Girls

A number of studies in recent years have identified both self-report and objectively measured accessibility of recreational facilities as important predictors of physical activity in youth. Yet, few studies have: (1) examined the relationship between the number and proximity of objectively measured neighborhood physical activity facilities and respondents’ perceptions and (2) compared objective and self-report measures as predictors of physical activity. This study uses data on 1,367 6th-grade girls who participated in the Trial of Activity for Adolescent Girls (TAAG) to explore these issues. Girls reported whether nine different types of recreational facilities were easily accessible. These facilities included basketball courts, golf courses, martial arts studios, playing fields, tracks, skating rinks, swimming pools, tennis courts, and dance/gymnastic clubs. Next, geographic information systems (GIS) were used to identify all the parks, schools, and commercial sites for physical activity located within a mile of each girl’s home. These sites were then visited to inventory the types of facilities available. Girls wore accelerometers to measure their weekly minutes of non-school metabolic equivalent weighted moderate-to-vigorous physical activity (MW-MVPA). The number of facilities within a half-mile of girls’ homes strongly predicted the perception of easy access to seven out of nine facility types. Both individual facility perceptions and the total number of facilities perceived were associated with increased physical activity. For each additional facility perceived, girls clocked 3% more metabolic equivalent weighted moderate-to-vigorous physical activity (p < 0.001). Although girls tended to record 3% more of this kind of physical activity (p < 0.05) per basketball court within a mile of their homes, objective facility measures were otherwise unrelated to physical activity. The results from this study suggest that raising the profile of existing facilities may help increase physical activity among adolescent girls