DIA1R Is an X-Linked Gene Related to Deleted In Autism-1

Background: Autism spectrum disorders (ASDs) are frequently occurring disorders diagnosed by deficits in three core functional areas: social skills, communication, and behaviours and/or interests. Mental retardation frequently accompanies the most severe forms of ASDs, while overall ASDs are more commonly diagnosed in males. Most ASDs have a genetic origin and one gene recently implicated in the etiology of autism is the Deleted-In-Autism-1 (DIA1) gene. Methodology/Principal Findings: Using a bioinformatics-based approach, we have identified a human gene closely related to DIA1, we term DIA1R (DIA1-Related). While DIA1 is autosomal (chromosome 3, position 3q24), DIA1R localizes to the X chromosome at position Xp11.3 and is known to escape X-inactivation. The gene products are of similar size, with DIA1 encoding 430, and DIA1R 433, residues. At the amino acid level, DIA1 and DIA1R are 62 % similar overall (28 % identical), and both encode signal peptides for targeting to the secretory pathway. Both genes are ubiquitously expressed, including in fetal and adult brain tissue. Conclusions/Significance: Examination of published literature revealed point mutations in DIA1R are associated with X-linked mental retardation (XLMR) and DIA1R deletion is associated with syndromes with ASD-like traits and/or XLMR. Together, these results support a model where the DIA1 and DIA1R gene products regulate molecular traffic through the cellular secretory pathway or affect the function of secreted factors, and functional deficits cause disorders with ASD-lik

Gender differences in pain levels before and after treatment: a prospective outcomes study on 3,900 Swiss patients with musculoskeletal complaints

BACKGROUND: Current studies comparing musculoskeletal pain levels between the genders focus on a single point in time rather than measuring change over time. The purpose of this study is to compare pain levels between males and females before and after treatment. METHODS: Eleven different patient cohorts (3,900 patients) included in two prospective outcome databases collected pain data at baseline and 1 month after treatment. Treatments were either imaging-guided therapeutic injections or chiropractic therapy. The Mann-Whitney U test was used to calculate differences in numerical rating scale (NRS) median scores between the genders for both time points in all 11 cohorts. RESULTS: Females reported significantly higher baseline pain scores at 4 of the 11 sites evaluated (glenohumeral (p = 0.015), subacromial (p = 0.002), knee (p = 0.023) injections sites and chiropractic low back pain (LBP) patients (p = 0.041)). However, at 1 month after treatment there were no significant gender differences in pain scores at any of the extremity sites. Only the chiropractic LBP patients continued to show higher pain levels in females at 1 month. CONCLUSIONS: In these 11 musculoskeletal sites evaluated before and after treatment, only 3 extremity sites and the chiropractic LBP patients showed significantly higher baseline pain levels in females. At 1 month after treatment only the LBP patients had significant gender differences in pain levels. Gender evaluation of change in pain over time is likely to be more clinically important than an isolated pain measurement for certain anatomical sites