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.

WHO disability grade does not influence physical activity in Brazilian leprosy patients

Disability caused by leprosy may be associated with stigma. The aim of this work is to describe the degree of disability, quality of life and level of physical activity of individuals with leprosy and to identify possible correlations between these factors. Ninety-seven patients from two referral centres were studied. A complete medical history was taken and the World Health Organization degree of physical disability classification (WHO-DG), the International Physical Activity Questionnaire (IPAQ) and the Medical Outcome Study 36-item Short-form health Survey (SF36) were applied. The mean age of patients was 51 +/- 14.9 years old; participants were predominantly men, married, unemployed, had concluded treatment and had had lepromatous leprosy. The WHO-DG and the level of physical activity (P-value = 0.36) were not correlated. The WHO-DG showed that 72.2% of patients had disabilities, 37-1% of whom performed vigorous physical activities. No significant association was observed between the WHO-DG and the domains of the QoL SF-36 except for functional capacity (P-value = 0.02); the physical capacity is generally 'very good' when individuals have no disabilities and 'bad' with severe disabilities. In conclusion, the WHO-DG of leprosy patients does not affect the level of physical activities or quality of life except functional capacity. There is no significant association between physical activities and quality of life in these individuals.

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

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Social disability of Brazilian mood disorder patients

Mood disorders cause many social problems, often involving family relationships. Few studies are available in the literature comparing patients with bipolar, unipolar, dysthymic, and double depressive disorders concerning these aspects. In the present study, demographic and disease data were collected using a specifically prepared questionnaire. Social adjustment was assessed using the Disability Adjustment Scale and family relationships were evaluated using the Global Assessment of Relational Functioning Scale. One hundred patients under treatment for at least 6 months were evaluated at the Psychiatric Outpatient Clinic of the Botucatu School of Medicine, UNESP. Most patients were women (82%) more than 50 (49%) years old with at least two years of follow-up, with little schooling (62% had less than 4 years), and of low socioeconomic level. Logistic regression analysis showed that a diagnosis of unipolar disorder (P = 0.003, OR = 0.075, CI = 0.014-0.403) and dysthymia (P = 0.001, OR = 0.040, CI = 0.006-0.275) as well as family relationships (P = 0.002, OR = 0.953, CI = 0914-0.992) played a significant role in social adjustment. Unipolar and dysthymic patients presented better social adjustment than bipolar and double depressive patients (P < 0.001), results that were not due to social class. These patients, treated at a teaching hospital, may represent the severest mood disorder cases. Evaluations were made knowing the diagnosis of the patients, which might also have influenced some of the results. Social disabilities among mood disorder patients are very frequent and intensive.

Availability, collection and use of data on disability in the Caribbean subregion

Includes bibliography