Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern.
Background: Cerebral palsy (CP) is frequently associated with specific cognitive impairments, such as executive dysfunction which are related to participation and quality of life (QOL). The proposed study will examine whether a computerized executive function (EF) training programme could provide superior benefits for executive functioning, participation, QOL and brain plasticity, as compared to usual care. Methods: A single-blind randomized controlled trial (RCT) design will be performed. Thirty children with CP aged 8 to 12 years will participate in a home-based computerized multi-modal executive training programme (12 weeks, 5 days a week, 30 min a day training, total dose = 30 h). Thirty children with CP matched by age, sex, motor and intelligence quotient (IQ) will compose the waitlist group. Cognitive, behavioural, emotional, participation and QOL measures will be obtained at three time points: before, immediately after and 9 months after completing the training. Additionally, structural and functional (resting state) magnetic resonance images (MRI) will be obtained in a subsample of 15 children from each group. Outcomes between groups will be compared following standard principles for RCTs. Discussion: The study will test whether the cognitive training programme exerts a positive effect not only on neuropsychological and daily functioning of children with CP but also on other measures such as participation and QOL. We will also use brain MRI to test brain functional and structural changes after the intervention. If this on-line and home-based training programme proves effective, it could be a cost-effective intervention with short-and long-term effects on EF, participation or QOL in CP.
The aims of this study were to measure the concentrations of nutrients and pollutants in peri-urban wetlands, to analyze the plant morphology of the most representative macrophyte species, and to determine their potential use as biomonitors. Four wetlands in the Middle Paraná River floodplain evidencing contamination or anthropogenic impact were studied. The studied species were Typha domingensis Pers., Eichhornia crassipes (Mart.) Solms., Alternanthera philoxeroides (Mart.) Griseb., and Pistia stratiotes L. Besides, the same plant species from an uncontaminated wetland considered as control were studied. A. philoxeroides showed the highest total phosphorus (TP) concentration in leaves throughout the study, while the other species showed a higher TP concentration in roots than in leaves. Since metal concentration in A. philoxeroides tissues was always higher than in sediment, further studies focused on its phytoremediation capacity should be carried out. T. domingensis exhibited the highest Zn concentrations in roots followed by Pb, and E. crassipes presented the highest values of Pb concentrations in roots. The aerial part height of the plants from peri-urban wetlands was significantly higher than that of the plants from the control, while the root length was significantly lower. The root length of P. stratiotes showed a negative correlation with soluble reactive phosphorus (SRP) concentration in water. All the root anatomical parameters of T. domingensis and E. crassipes showed a positive correlation with nitrate and ammonium concentrations in water. The studied macrophytes evidenced a high tolerance, enabling them to grow and survive in peri-urban wetlands that receive pollution from different sources. The use of aquatic and wetland plants as contaminant bioindicators and bioaccumulators in the Middle Paraná River floodplain is completely feasible.
IntroductionCerebral palsy (CP) is frequently associated with specific cognitive impairments, such as executive dysfunction which are related to participation and quality of life (QOL). The proposed study will examine whether a computerized executive function (EF) training programme could provide superior benefits for executive functioning, participation, QOL and brain plasticity, as compared to usual care.Methods and analysisA single-blind randomized controlled trial (RCT) design will be performed. Thirty children with CP aged 8 to 12 years will participate in a home-based computerized multi-modal executive training programme (12 weeks, 5 days a week, 30 min a day training, total dose= 30h). Thirty children with CP matched by age, sex, motor and intelligence quotient (IQ) will compose the waitlist group. Cognitive, behavioural, emotional, participation and QOL measures will be obtained at three time points: before, immediately after and 9 months after completing the training. Additionally, structural and functional (resting state) magnetic resonance images (MRI) will be obtained in a subsample of 15 children from each group. Outcomes between groups will be compared following standard principles for RCTs.The study will test whether the cognitive training programme exerts a positive effect not only on neuropsychological and daily functioning of children with CP but also on other measures such as participation and QOL. We will also use brain MRI to test brain functional and structural changes after the intervention.If this on-line and home-based training programme proves effective, it could be a cost-effective intervention with short- and long-term effects on EF, participation or QOL in CP.
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