Physical disability, recent illnesses and health self-assessment in a population-based study in Sao Paulo, Brazil

Objectives. To investigate health self-assessment and to estimate the prevalence of chronic diseases and recent illnesses in people with and without physical disabilities (PD) in the state of Sao Paulo, southeastern Brazil. Study design. A Cross-sectional study comprising two population-based health surveys conducted in 2002 and 2003. Methods. A total of 8317 persons (165 with PD) were interviewed in the two studies. Variables concerning to health self-assessment; chronic disease and recent illness were compared in the people with and without PD. Negative binomial regression was used in the analysis. Results. Subjects with PD more often assessed their health as poor/very poor compared to non-disabled ones. They reported more illnesses in the 15 days prior to interview as well as more chronic diseases (skin conditions, anaemia, chronic kidney disease, stroke, depression/anxiety, migraine/headache, pulmonary diseases, hypertension, diabetes, arthritis/arthrosis/rheumatic conditions and heart disease). This higher disease prevalence can be either attributed to disability itself or be associated to gender, age and schooling. Conclusions. Subjects with PD had more recent illnesses and chronic diseases and poorer health self-assessment than non-disabled ones. Age, gender, schooling and disability have individual roles in disease development among disabled people.

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.