A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.

We present a girl with the characteristic clinical picture associated with Marden-Walker syndrome (MWS; OMIM 248700), including mask-like face with blepharophimosis, joint contractures, intellectual disability, a multicystic dysplastic kidney and cerebral dysgenesis. The long-term follow-up allowed us to monitor the evolution of the phenotype in this patient, and among the main findings we highlight the following: demyelination of the pyramidal tract demonstrated by transcranial magnetic stimulation and the involvement of the levator muscles of angle of mouth in fixed facial expression with relative integrity of the rest of the facial expression muscles. A 244 k array comparative genomic hybridization (aCGH) was carried out and showed a de novo interstitial deletion of approximately 2.84 Mb affecting only the cytoband 21q22.11 (genome coordinates chr21:31,874,016-34,711,763). We selected 10 of the most recent published cases with either total or partial deletions of cytoband 21q22.11 that provided good characterization of the genomic size or the genes in the deleted regions. We observed that in nine of the 10 cases the deleted regions included the RUNX1 gene in 21q22.12, which is not affected in the current patient's deletion or in that of Patient 3 from Roberson et al. [2011]. After a comparison of shared deleted genes between cases, and correlation of their potential phenotypes, we concluded that the pattern of defects considered for a diagnosis of MWS may represent part of the phenotypic expression of a partial or total deletion of 21q22.11.

Screening and brief intervention online for college students: the ihealth study.

AIMS: To test the feasibility of online alcohol screening and brief intervention (BI) by comparing (i) two approaches to inviting all students to be screened, and (ii) a minimal versus a more extensive BI. METHODS: Freshmen students at one university were randomized to receive one of two types of email invitations to an online anonymous: (i) general health assessment, or (ii) alcohol-specific assessment. All were linked to the same alcohol screening survey. Those with unhealthy alcohol use (AUDIT >or=8) were randomly assigned to minimal or more extensive online alcohol BI. RESULTS: In both invitation groups (4008 students), 55% of students completed the online screening. Overall, 37% of men and 26% of women had unhealthy alcohol use. Compared to minimal BI, more extensive BI was associated with intention to seek help among men and with a greater increase in readiness to change among women. One month after BI, 75% of students completed another assessment, 33% of women and 15% of men with unhealthy alcohol use at baseline no longer had unhealthy alcohol use. There were no significant differences on drinking measures by BI randomization group. CONCLUSIONS: Over half of an entire freshman class of college students were reached by email and completed alcohol screening and brief intervention. Even an alcohol-specific invitation did not deter students. Although brief interventions that differed had some gender specific effects on readiness to change and intention, in general, unhealthy alcohol use decreased after brief intervention. Web screening and brief intervention show promise for addressing unhealthy alcohol use by college students.

Effects of temptations on the affective salience of weight control goals.

Despite the value of weight control goals, the maintenance of healthy eating habits represents a challenge for most. Self-regulatory efforts are often challenged by the presence of high-risk cues (e.g., tempting foods) which provide short-term positive outcomes at the expense of these long-term health objectives. The current study examined contextual influences on self-regulation failure by exploring the effect of cues on an indirect measure of goal value. Two experiments were conducted with undergraduate students which examined the effect of temptation cues on the evaluation of information related to the goal of weight control. Results of Study 1 provided preliminary evidence for the utility of this task as an indirect measure of goal value and showed that food-related primes slowed evaluation response times for weight control-related targets. Study 2 replicated and extended these findings by demonstrating that temptation cues may not only decrease the affective salience of weight control related information but increase the salience of information related to the goal of affect enhancement. These results suggest that self-regulation failure may be influenced by contextual changes in the value of health-related goals. Implications for prevention and intervention efforts are discussed.

Integration and coordination of pain management in primary care.

Pain is one of the most common symptoms reported to primary care providers and has significant implications for health care costs. The primary aim of this article is to describe and illustrate how to integrate the treatment of chronic pain in the primary care setting. First, we address the integration and coordination of care between mental health and primary care. We then present a typical case and discuss the patient's treatment, outcome, and prognosis. The article concludes with a discussion of issues that frequently arise when integrating psychological treatment for pain in primary care settings.