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.

Barriers to interventions aimed at promoting the health of health care workers in Brazil

Objective. To search the literature for circumstances that impede injury and disease prevention and other activities intended to improve the health of the health care worker. Methods. The SciELO database was searched for articles published in 1967-2008. This was supplemented by a PubMed search for the period 1950-2008. The following key words were used to identify articles in English, Portuguese, and Spanish: work, health personnel, occupational, risks, diseases, ergonomics, work ability, quality of life, organization, accidents, work conditions, intervention, and administration. Articles on injury and disease prevention and occupational health in a health care setting in Latin America were selected, along with articles focused on health promotion in the health sector. Results. The following shortcomings were identified: activities lacked a sound theoretical foundation and were not integrated with the health services management; a failure to evaluate the effectiveness of the activity; health surveillance focused solely on a specific disease or injury; management not committed to the proposed activity; miscommunication; inability of workers to participate, or control the work environment; and, programs or efforts that were limited to changing the workers` behaviors. Conclusions. The literature shows that all the barriers identified by this study affect both the health care workers` health as well as their productivity.

Using metrics from complex networks to evaluate machine translation

Establishing metrics to assess machine translation (MT) systems automatically is now crucial owing to the widespread use of MT over the web. In this study we show that such evaluation can be done by modeling text as complex networks. Specifically, we extend our previous work by employing additional metrics of complex networks, whose results were used as input for machine learning methods and allowed MT texts of distinct qualities to be distinguished. Also shown is that the node-to-node mapping between source and target texts (English-Portuguese and Spanish-Portuguese pairs) can be improved by adding further hierarchical levels for the metrics out-degree, in-degree, hierarchical common degree, cluster coefficient, inter-ring degree, intra-ring degree and convergence ratio. The results presented here amount to a proof-of-principle that the possible capturing of a wider context with the hierarchical levels may be combined with machine learning methods to yield an approach for assessing the quality of MT systems. (C) 2010 Elsevier B.V. All rights reserved.