Pragmatic Language and School Related Linguistic Abilities in Siblings of Children with Autism

Siblings of probands with autism spectrum disorders are at higher risk for developing the broad autism phenotype (BAP). We compared the linguistic abilities (i.e., pragmatic language, school achievements, and underling reading processes) of 35 school-age siblings of children with autism (SIBS-A) to those of 42 siblings of children with typical development. Results indicated lower pragmatic abilities in a subgroup of SIBS-A identified with BAP related difficulties (SIBS-A-BAP) whereas school achievements and reading processes were intact. Furthermore, among SIBS-A-BAP, significant negative correlations emerged between the severity scores on the Autism Diagnostic Observation Schedule and full and verbal IQ scores. These results are discussed in the context of the developmental trajectories of SIBS-A and in relation to the BAP

Quality of life data as prognostic indicators of survival in cancer patients: an overview of the literature from 1982 to 2008

<p>Abstract</p> <p>Background</p> <p>Health-related quality of life and survival are two important outcome measures in cancer research and practice. The aim of this paper is to examine the relationship between quality of life data and survival time in cancer patients.</p> <p>Methods</p> <p>A review was undertaken of all the full publications in the English language biomedical journals between 1982 and 2008. The search was limited to cancer, and included the combination of keywords 'quality of life', 'patient reported-outcomes' 'prognostic', 'predictor', 'predictive' and 'survival' that appeared in the titles of the publications. In addition, each study was examined to ensure that it used multivariate analysis. Purely psychological studies were excluded. A manual search was also performed to include additional papers of potential interest.</p> <p>Results</p> <p>A total of 451 citations were identified in this rapid and systematic review of the literature. Of these, 104 citations on the relationship between quality of life and survival were found to be relevant and were further examined. The findings are summarized under different headings: heterogeneous samples of cancer patients, lung cancer, breast cancer, gastro-oesophageal cancers, colorectal cancer, head and neck cancer, melanoma and other cancers. With few exceptions, the findings showed that quality of life data or some aspects of quality of life measures were significant independent predictors of survival duration. Global quality of life, functioning domains and symptom scores - such as appetite loss, fatigue and pain - were the most important indicators, individually or in combination, for predicting survival times in cancer patients after adjusting for one or more demographic and known clinical prognostic factors.</p> <p>Conclusion</p> <p>This review provides evidence for a positive relationship between quality of life data or some quality of life measures and the survival duration of cancer patients. Pre-treatment (baseline) quality of life data appeared to provide the most reliable information for helping clinicians to establish prognostic criteria for treating their cancer patients. It is recommended that future studies should use valid instruments, apply sound methodological approaches and adequate multivariate statistical analyses adjusted for socio-demographic characteristics and known clinical prognostic factors with a satisfactory validation strategy. This strategy is likely to yield more accurate and specific quality of life-related prognostic variables for specific cancers.</p

Dietary glycemic load is a predictor of age-related hearing loss in older adults

Age-related hearing loss is a frequent disability in older adults and nutrition could play a role in the development of this condition. Carbohydrate nutrition [including dietary glycemic index (GI) and load (GL)] may be linked to hearing loss. We aimed to determine the association between carbohydrate nutrition (including mean dietary GI and GL, and the dietary intakes of carbohydrate and sugar), starch, cereal and total fiber, and age-related hearing loss. The Blue Mountains Hearing Study is a population-based survey of age-related hearing loss (1997–1999 to 2002–2004). Hearing loss was measured in 2956 participants (aged ≥50 y) and was defined as the pure-tone average of frequencies 0.5, 1.0, 2.0, and 4.0 kHz > 25 dB hearing level. Dietary data were collected in a semiquantitative FFQ. A purpose-built database based on Australian GI values was used to calculate the mean GI. A higher mean dietary GI was associated with an increased prevalence of any hearing loss, comparing quintiles 1 (lowest) and 5 (highest), [multivariable-adjusted odds ratio = 1.41 (95% CI = 1.01–1.97)]. Participants in the highest quartile of mean dietary GL intake compared with those in the lowest quartile had a 76% greater risk of developing incident hearing loss (P-trend = 0.04). Higher carbohydrate and sugar intakes were associated with incident hearing loss (P-trend = 0.03 and P-trend = 0.05, respectively). In summary, a high-GL diet was a predictor of incident hearing loss, as was higher intake of total carbohydrate. Hence, high postprandial glycemia might be a potential underlying biological mechanism in the development of age-related hearing loss.6 page(s

Myo1c mutations associated with hearing loss cause defects in the interaction with nucleotide and actin.

Three heterozygous missense mutations in the motor domain of myosin 1c (Myo1c), which mediates adaptation in the inner ear, are associated with bilateral sensorineural hearing loss in humans. With transient kinetic analyses, steady-state ATPase and motility assays, and homology modeling, we studied the interaction of these mutants with nucleotide and actin using a truncated construct, Myo1c(1IQ-SAH), which includes an artificial lever arm. Results indicate that mutation R156W, near switch 1, affects the nucleotide-binding pocket and the calcium binding by disrupting switch 1 movement. Mutation V252A, in the K helix of the upper 50 kDa domain, showed reduced actin affinity consistent with disruption of communication between the actin- and nucleotide-binding sites. T380M, in a Myo1c-specific insert in the HO linker, displayed aberrant changes in most kinetic parameters and uncoupling of the ATPase from motility. These data allow for an interpretation of how these mutations might affect adaptation