Multiple brain developmental venous anomalies as a marker for constitutional mismatch repair deficiency syndrome

The occurrence of multiple developmental venous anomalies in this study of 10 patients with constitutional mismatch repair deficiency syndrome (CMMRD) suggests that developmental venous anomalies may be a characteristic of this syndrome that has not been previously described. A retrospective descriptive analysis of brain MR imaging studies from 3 families with CMMRD was performed. Analysis included the number of developmental venous anomalies, location, draining vessels, and associated vascular anomalies (for instance, cavernomas) with clinical correlation of symptoms and tumors. CMMRD is a cancer-predisposition syndrome with very high penetrance and most reported individuals are affected during childhoodInternational Biallelic Mismatch Repair Deficiency ConsortiumMeagan’s Walk, the CIHR Joint Canada- Israel Health Research Program, and an American Association for Cancer Research Stand Up 2 Cancer Catalyst TM Research Gran

How similar are the different results?

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/43555/1/11135_2004_Article_BF00145805.pd

Health care providers' perceptions of the vulnerability of persons with disabilities: Sociological frameworks and empirical analyses

In this study, we explored health care providers' perceptions about their professional responsibility for persons with disabilities. We examined the providers' perceptions of the vulnerability of persons with disabilities to sexual exploitation. We also elicited the professionals' assumptions about the consequences of such exploitation to the persons with disability and the professionals working with them. Our analyses indicated that these professionals perceived that different categories of disability pose different risk of sexual exploitation. Populations with forms of cognitive impairment were considered most vulnerable. In terms of professional responsibility for the care of persons who might have experienced sexual exploitation, respondents reported least confidence in their ability to detect instances of exploitation. In contrast, respondents expressed greater confidence in their ability to report and conduct follow-up of abuse. The professionals anticipated providing emotional support to persons who experienced exploitation. We discuss the study's implications for training and policy formation.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/45566/1/11195_2005_Article_BF01102394.pd