Blepharo-cheilo-dontic (BCD) syndrome: Report on four new patients

We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia, Two were sporadic cases and two were familial cases, a mother and her equally affected son, Recently, the reports with different combination of these signs were reviewed by Gorlin et al, [1996; Am J Med Genet 65:109-112] and named blepharo-cheilo-dontic (BCD) syndrome, Variable expressivity and autosomal dominant inheritance were observed. (C) 1998 Wiley-Liss, Inc.

Prevalência de incontinência urinária e fatores associados em idosos institucionalizados

Urinary incontinence (UI) is a geriatric syndrome that is especially prevalent in institutionalized individuals, and that causes economic and social impacts derived from treatment costs and overload of caregiver. UI also entails physical consequences to the health of the elderly, such as urinary tract infections or pressure ulcers, among other health problems. However, the existing national research on this condition is still scarce and comprises serious methodological biases. Therefore, the objective of this study is to determine the prevalence of urinary incontinence and associated factors in institutionalized elderly. A cross-sectional study is presented herein, conducted between October and December, 2013 and carried out in 10 nursing homes in the city of Natal (Northeast Brazil). UI was verified through the program Minimum Data Set version 3.0, which was also used to assess fecal incontinence, urinary devices and UI control programs. Data collection included sociodemographic information, UI characterization, as well as variables related to the institution itself and to health conditions (comorbidities, medication, pelvic floor surgery, Barthel Index for functional capacity and Pfeiffer test for cognitive status). Bivariate analysis was performed using the Chi-Square Test (or Fisher‟s Exact Test) and the Linear Chi-Square Test, calculating the prevalence ratio with 95% confidence interval. Variables with p value under 0.20 were included in the multivariate analysis, which was performed using the Stepwise Forward logistic regression. The inclusion of variables in the final model depended on the likelihood ratio test, absence of multicollinearity and on the Hosmer-Lemeshow test. A statistical significance level of 0.05 was considered. Six (1.8%) hospitalized elderly, one individual in palliative care (0.3%) and one (0.3%) individual under the age of 60 were excluded from the study. The final sample consisted of 321 elderly, mostly females, with a mean age of 81.5 years. The prevalence of UI was 59.43% and the final model revealed statistically a significant association between UI and white race, physical inactivity, stroke, mobility constraints and cognitive decline. The most frequent UI type was functional UI due to physical or cognitive disability, and incontinence control measures were applied only to a minority of residents (approximately 8%). It is concluded that UI is a health issue that affects more than half of the institutionalized elderly, and is associated with white race, physical inactivity, stroke and other geriatric syndromes such as immobility and cognitive disability. Most of these associated factors are modifiable and therefore the findings of this study highlight the importance of UI prevention and treatment in nursing homes, which include general measures, such as physical and psychosocial activities, and specific measures, such as prompted voiding

A newly recognized syndrome of marfanoid habitus; Long face; Hypotelorism; Long, thin nose; Long, thin hands and feet; and a specific pattern of language and learning disabilities

Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance. (C) 2007 Wiley-Liss, Inc.