Impact of the BDNF Val66Met polymorphism within and beyond the retrosplenial cortex in females with Mild Cognitive Impairment: A magnetoencephalography study

Mild Cognitive Impairment (MCI) can be influenced by genetic risk factors. The Brain Derived Neurotrophic Factor Val66Met polymorphism is one of them. This mutation may affect the brain functional connectivity (FC), especially for those carriers of the Met allele (A). The retrosplenial cortex (RSC), essential component of the Default Mode Network (DMN), could be altered by this polymorphism. Our aim was to examine the influence of the Val66Met polymorphism within the RSC?s functional network, and its interconnections between the frontal medial cortex (FMC) and the anterior cingulate (ACC)

A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey.

Introduction Transthyretin amyloidosis (ATTR amyloidosis) is a clinically heterogeneous disease caused by mutations in the transthyretin (TTR) gene or aggregation of wild-type transthyretin (ATTRwt). In Spain, there are two large endemic foci of ATTR amyloidosis caused by the Val30Met variant, with additional cases across the country; however, these data may be incomplete, as there is no centralized patient registry. The Transthyretin Amyloidosis Outcomes Survey (THAOS) is an ongoing, global, longitudinal, observational survey of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic patients with TTR mutations. This analysis aimed to gain a deeper understanding of the clinical profile of patients with ATTR amyloidosis in Spain. Methods This was a descriptive analysis of the demographic and clinical characteristics of symptomatic patients enrolled at six sites geographically dispersed throughout Spain (data cutoff: January 6, 2020). Patient data at enrollment, including genotype, demographics, and clinical presentation for symptomatic patients, were recorded. Patients were grouped by predominant phenotype based on clinical measures at enrollment: predominantly cardiac, predominantly neurologic, or mixed (cardiac and neurologic). Results There were 379 patients (58.0% male; 63.3% symptomatic) enrolled in the six THAOS sites in Spain. Predominant genotypes were the Val30Met mutation (69.1%) or ATTRwt (15.6%). Predominant phenotype distribution was neurologic (50.4%), mixed (35.8%), and cardiac (13.8%) for all symptomatic patients (n = 240); neurologic (67.8%), mixed (21.2%), and cardiac (11.0%) for symptomatic Val30Met (n = 146); and mixed (64.9%), cardiac (22.8%), and neurologic (12.3%) for symptomatic ATTRwt (n = 57). Symptomatic patients reported a range of ATTR amyloidosis signs and symptoms at enrollment, with autonomic neuropathy and sensory neuropathy common in all phenotypes. Conclusions These results from THAOS highlight the phenotypic heterogeneity associated with ATTR amyloidosis in Spain and the importance of comprehensive neurologic and cardiac evaluations in all patients with ATTR amyloidosis.post-print392 K

La Calidad de vida familiar, apoyos y servicios de infantes y jóvenes con discapacidad intelectual: Qualidade de vida familiar, apoio e serviços para bebês e jovens com deficiência intelectual

Introducción: La calidad de vida familiar es un aspecto importante que considerar en las personas con discapacidad, en tanto compete elementos fundamentales que favorecen su contexto y diversos factores para lograr metas personales y familiares. Esta investigación tuvo como objetivo identificar la relación entre la satisfacción con la calidad de vida familiar y los apoyos y los servicios en menores con discapacidad intelectual y sus familias. Métodos: Estudio transversal, descriptivo-exploratorio y correlacional; muestra no probabilística de 113 familias de personas con discapacidad intelectual menores de 18 años; los instrumentos fueron la escala de calidad de vida familiar y un cuestionario de determinantes sociales de la salud que evaluó las características de los apoyos y los servicios. Se realizó análisis univariado y bivariado para establecer la relación entre los apoyos y los servicios con la calidad de vida familiar a través de la prueba Chi2, aceptando p ≤ .05. Resultados: Se obtuvieron relaciones estadísticamente significativas entre acompañamiento psicosocial, apoyo económico, afiliación a seguridad social, participación en programas, tener información sobre derechos legales, acceder a servicios de formación y para el cuidado del menor, con todas las dimensiones de calidad de vida familiar. Conclusión: La insatisfacción en variables de calidad de vida familiar, el bajo acceso a apoyos y servicios y la relación entre ellos, exigen atención e intervenciones adecuadas y centradas en la familia con el fin de fomentar el bienestar individual y familiar

Mild cognitive impairment subtypes: An MEG study

Previous studies of the dementia continuum have characterized the early disruption of the brain oscillatory activity at the stage of Mild cognitive impairment (MCI). Reduction in power in posterior regions in the alpha band has been one of the landmarks of the Alzheimer Disease accompanied by the anteriorization of the theta band power. However, little is known about the neurophysiological differences between single and multidomain MCI patients.Our goal is to study the differences in oscillatory magnetic activity between amnestic single and multidomain MCI. This will allow us to test whether the effect of the impairment in a single cognitive domain or in a more widespread functional impairment can be reflected in specific neurophysiological profiles

Brain dynamics of mild cognitive impairment during face encoding

Brain oscillations are closely correlated with human information processing and fundamental aspects of cognition. Previous literature shows that due to the relation between brain oscillations and memory processes, spectral dynamics during such tasks are good candidates to study and characterize memory related pathologies. Mild cognitive impairment (MCI), defined as a clinical condition characterized by memory impairment and/ or deterioration of additional cognitive domains, is considered a preliminary stage in the dementia process. In consequence, the study of its brain patterns could help to achieve an early diagnosis of Alzheimer Disease

Time to Switch to Second-line Antiretroviral Therapy in Children With Human Immunodeficiency Virus in Europe and Thailand.

Background: Data on durability of first-line antiretroviral therapy (ART) in children with human immunodeficiency virus (HIV) are limited. We assessed time to switch to second-line therapy in 16 European countries and Thailand. Methods: Children aged <18 years initiating combination ART (≥2 nucleoside reverse transcriptase inhibitors [NRTIs] plus nonnucleoside reverse transcriptase inhibitor [NNRTI] or boosted protease inhibitor [PI]) were included. Switch to second-line was defined as (i) change across drug class (PI to NNRTI or vice versa) or within PI class plus change of ≥1 NRTI; (ii) change from single to dual PI; or (iii) addition of a new drug class. Cumulative incidence of switch was calculated with death and loss to follow-up as competing risks. Results: Of 3668 children included, median age at ART initiation was 6.1 (interquartile range (IQR), 1.7-10.5) years. Initial regimens were 32% PI based, 34% nevirapine (NVP) based, and 33% efavirenz based. Median duration of follow-up was 5.4 (IQR, 2.9-8.3) years. Cumulative incidence of switch at 5 years was 21% (95% confidence interval, 20%-23%), with significant regional variations. Median time to switch was 30 (IQR, 16-58) months; two-thirds of switches were related to treatment failure. In multivariable analysis, older age, severe immunosuppression and higher viral load (VL) at ART start, and NVP-based initial regimens were associated with increased risk of switch. Conclusions: One in 5 children switched to a second-line regimen by 5 years of ART, with two-thirds failure related. Advanced HIV, older age, and NVP-based regimens were associated with increased risk of switch

Hypolimnas misippus (Linnaeus, 1764)(Lepidoptera : Nymphalidae), una especie de distribución pantropical presente en Venezuela

Hypolimnas H&uuml;bner, [1819] es un g&eacute;nero de mariposas diurnas que incluye 30 especies distribuidas principalmente en las regiones intertropicales de &Aacute;frica y Asia. Hypolimnas misippus (Linnaeus, 1764) presenta no s&oacute;lo esta distribuci&oacute;n afroasi&aacute;tica, sino que se extiende al tr&oacute;pico americano. Ha sido hallada en las Antillas, las Islas Canarias y en Norte y Sur Am&eacute;rica. Se plante&oacute; reconocer el patr&oacute;n de distribuci&oacute;n de la mariposa diurna Hypolimnas misippus en Venezuela, desconocido hasta el momento. Para ello se recopil&oacute; y analiz&oacute; la informaci&oacute;n disponible en bibliograf&iacute;a y museos. Se determin&oacute; que H. misippus se encuentra presente, espor&aacute;dicamente, en la franja Norte-Costera del pa&iacute;s, y en una parte del estado Bol&iacute;var. La planta hu&eacute;sped m&aacute;s frecuentemente registrada para esta especie ha sido la verdolaga, Portulaca oleracea L., la cual es com&uacute;n en Venezuela