UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients

We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes UBE2A, and in several patients of Brazilian and Polish families with point mutations in UBE2A. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present inpatients with a point mutation, which might be attributed to the deletion of SLC25A5. Taken together, the UBE2A deficiency syndrome in male patients with a mutation in or a deletion of UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. (C) 2010 Wiley-Liss, Inc.

Operations research/management science tools for integrating people with disabilities into employment. A study on Valencia`s Sheltered Work Centres for Disabled

People with disabilities have a right to a full life in every sense and one of those fundamental rights is the possibility to work. In this paper, the importance of social employment integration of disabled people is highlighted as one of the stakeholders to be satisfied by companies in the new framework that corporate social responsibility is constructing. The objective of the paper is to revise the benefits of some well-known operations research/management science tools that, if applied correctly, have a double positive impact on work accessibility and improved productivity. The responses collected from managers of Valencia`s ShelteredWork Centres for Disabled by means of a structured questionnaire are used to analyse the level of implementation of these tools and their impact depending on the type of centre, the kind of disability and other structural variables.