An approach to the problem of recurrent varicose veins

No Abstrac

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

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

Psychosocial adjustment of in-home caregivers of family members with dementia and Parkinson’s disease: a comparative study

Neurodegenerative diseases such as Parkinson’s and dementia are highly prevalent worldwide. People who suffer from these disorders often receive in-home care and assistance from family members, who must dedicate a considerable amount of time to the care recipient. The study of family caregivers’ psychosocial adjustment to the degenerative processes of both conditions is of interest due to the implications for the quality of life of both the care receiver and the caregiver, as well as other family members. This study compares the psychosocial adjustment of family members who care for people with dementia and Parkinson’s disease and identifies the main sociodemographic variables that affect the processes of adjustment to both conditions. To this end, the Psychosocial Adjustment to Illness Scale (PAIS-SR) and a sociodemographic form were administered to 157 family caregivers in Navarre, Spain. The results show that adjustment to the disease in family caregivers of people with Parkinson’s disease and dementia is, in general, satisfactory and related to variables such as place of residence, income, and employment status. The illness itself (Parkinson’s or dementia), however, is found to be the most influential variable in the level of psychosocial adjustment

Guía para el uso de inmunoglobulina endovenosa en síndrome de Guillan-Barre y neuropatías desmielinizantes crónicas

Fil: Amores, M.. Sociedad Neurológica Argentina; ArgentinaFil: Bertotti, A.. Sociedad Neurológica Argentina; ArgentinaFil: Cueto, A.. Sociedad Neurológica Argentina; ArgentinaFil: Di Egidio, M.. Sociedad Neurológica Argentina; ArgentinaFil: Doumic, J.. Sociedad Neurológica Argentina; ArgentinaFil: Dubrovsky, Alberto. Sociedad Neurológica Argentina; ArgentinaFil: Figueredo, A.. Sociedad Neurológica Argentina; ArgentinaFil: Fulgenzi, E.. Sociedad Neurológica Argentina; ArgentinaFil: Lautre, A.. Sociedad Neurológica Argentina; ArgentinaFil: Losavio, Adriana Silvia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Martinez Alvarez, M.. Sociedad Neurológica Argentina; ArgentinaFil: Mazia, C.. Sociedad Neurológica Argentina; ArgentinaFil: Nacul, R.. Sociedad Neurológica Argentina; ArgentinaFil: Pardal, A.. Sociedad Neurológica Argentina; ArgentinaFil: Pirra, L.. Sociedad Neurológica Argentina; ArgentinaFil: Politei, J.. Sociedad Neurológica Argentina; ArgentinaFil: Reisin, R.. Sociedad Neurológica Argentina; ArgentinaFil: Rey, R.. Sociedad Neurológica Argentina; ArgentinaFil: Rodriguez, G.. Sociedad Neurológica Argentina; ArgentinaFil: Rugiero, M.. Sociedad Neurológica Argentina; ArgentinaFil: Tarulla, A.. Sociedad Neurológica Argentina; ArgentinaFil: Yorio, Alberto. Sociedad Neurológica Argentina; Argentin