Renal malformations associated with mutations of developmental genes: messages from the clinic

Renal tract malformations (RTMs) account for about 40% of children with end-stage renal failure. RTMs can be caused by mutations of genes normally active in the developing kidney and lower renal tract. Moreover, some RTMs occur in the context of multi-organ malformation syndromes. For these reasons, and because genetic testing is becoming more widely available, pediatric nephrologists should work closely with clinical geneticists to make genetic diagnoses in children with RTMs, followed by appropriate family counseling. Here we highlight families with renal cysts and diabetes, renal coloboma and Fraser syndromes, and a child with microdeletion of chromosome 19q who had a rare combination of malformations. Such diagnoses provide families with often long-sought answers to the question “why was our child born with kidney disease”. Precise genetic diagnoses will also help to define cohorts of children with RTMs for long-term clinical outcome studies

Influence of visual feedback sampling on obstacle crossing behavior in people with Parkinson's disease

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)The purpose of the current study was to investigate the role of visual information on gait control in people with Parkinson's disease as they crossed over obstacles. Twelve healthy individuals, and 12 patients with mild to moderate Parkinson's disease, walked at their preferred speeds along a walkway and stepped over obstacles of varying heights (ankle height or half-knee height), under three visual sampling conditions: dynamic (normal lighting), static (static visual samples, similar to stroboscopic lighting), and voluntary visual sampling. Subjects wore liquid crystal glasses for visual manipulation. In the static visual sampling condition only, the patients with Parkinson's disease made contact with the obstacle more often than did the control subjects. In the successful trials, the patients increased their crossing step width in the static visual sampling condition as compared to the dynamic and voluntary visual sampling conditions; the control group maintained the same step width for all visual sampling conditions. The patients showed lower horizontal mean velocity values during obstacle crossing than did the controls. The patients with Parkinson's disease were more dependent on optic flow information for successful task and postural stability than were the control subjects. Bradykinesia influenced obstacle crossing in the patients with Parkinson's disease. (C) 2013 Elsevier B.V. All rights reserved.382330334Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)FAPESP [2007/06261-0

Longitudinal Decline In Lung Function In Former Asbestos Exposed Workers

Background: This study was designed to assess the effect of asbestos exposure on longitudinal lung function decline. Methods: A group of 502 former asbestos-cement workers with at least two spirometry tests 4 years apart. Repeated evaluations included respiratory symptoms questionnaire, spirometry and chest imaging. Asbestos exposure was ascertained as years of exposure, an index of cumulative exposure and latency time. The mixed effects model was used to evaluate the effect of exposure on the level and rate of change in forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC). Results: Mean age at entry was 51 (SD 9.9) years, mean latency time 25.6 (SD 10.0) years, mean follow-up time 9.1 (SD 2.8) years and mean number of spirometry tests 3.5. The FEV1 level was significantly related to pack-years of smoking at entry and during the follow-up, the index of cumulative asbestos exposure at entry, and the presence of asbestosis at follow-up. The FVC level was signi ficantly related to pack-years of smoking during the follow-up, cumulative asbestos exposure at entry, asbestosis and pleural thickening at follow-up, and body mass index at entry. Asbestos exposure was not associated with increasing rates of FEV1 and FVC decline. However, FEV1 regression slopes with age, estimated by terciles of cumulative exposure, showed significant differences. Combined effects of smoking and exposure conferred further acceleration in lung function decline. Conclusions: Occupational exposure in asbestoscement industry was a risk factor for increased lung function decline. The effect seems to be mostly concentrated during the working period. Smoking and exposure had synergic effects.7011521Becklake, M.R., Asbestos-related diseases of the lungs and pleura. 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The role of vision in Parkinson's disease locomotion control: Free walking task

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)The current study addressed the role of visual information in the control of locomotion in people with Parkinson's disease. Twelve healthy individuals and 12 mild to moderate Parkinson's disease patients were examined while walking at self-selected velocities, under three visual sampling conditions: dynamic (normal lighting), static (static visual samples) and voluntary visual sampling. Subjects wore liquid crystal glasses for visual manipulation. Outcome measures included spatial-temporal parameters, braking and propulsive impulses, number of samples and total duration of voluntary visual samples. Interaction between groups and visual conditions was not observed for kinematic parameters or braking and propulsive impulses. There were no significant differences between groups for voluntary visual sampling variables. These findings suggest that the visual control of locomotion in Parkinson's disease patients was similar to that observed in controls. Furthermore, Parkinson's disease patients were not more dependent on visual information than healthy individuals for the locomotion control. (C) 2011 Elsevier B.V. All rights reserved.352175179Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)FAPESP [2007/06261-0