Chromosome studies in Orchidaceae from Argentina

The center of diversity of Argentinean orchids is in the northeast region of the country. Chromosome numbers and karyotype features of 43 species belonging to 28 genera are presented here. Five chromosome records are the first ones at the genus level; these taxa are Aspidogyne kuckzinskii (2n = 42), Eurystyles actinosophila (2n = 56), Skeptrostachys paraguayensis (2n = 46), Stigmatosema polyaden (2n = 40) and Zygostates alleniana (2n = 54). In addition, a chromosome number is presented for the first time for 15 species: Corymborkis flava (2n = 56), Cyclopogon callophyllus (2n = 28), C. oliganthus (2n = 64), Cyrtopodium hatschbachii (2n = 46), C. palmifrons (2n = 46), Galeandra beyrichii (2n = 54), Habenaria bractescens (2n = 44), Oncidium edwallii (2n = 42), O. fimbriatum (2n = 56), O. pubes (2n = 84), O. riograndense (2n = 56), Pelexia ekmanii (2n = 46), P. lindmanii (2n = 46) and Warrea warreana (2n = 48). For Oncidium longicornu (2n = 42), O. divaricatum (2n = 56) and Sarcoglottis fasciculata (2n = 46+1B?, 46+3B?), a new cytotype was found. Chromosome data support phylogenetic relationships proposed by previous cytological, morphologic and molecular analyses, and in all the cases cover some gaps in the South American literature on orchid chromosomes

Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks : The GR@ACE project

Introduction: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. Methods: Genome Research at Fundacio ACE (GR@ACE) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, GR@ACE series were meta-analyzed with additional genome-wide association study data sets. Results: We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444. Discussion: The regulation of vasculature is a prominent causal component of probable AD. GR@ACE meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series

New insights into the genetic etiology of Alzheimer's disease and related dementias

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1*04:07, and intermediary with HLA-DRB1*04:01 and HLA-DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues

¿Qué pasaría sin la unidad para la pervivencia como pueblo?: Identidad indígena en tierraadentro, Cauca, Colombia

The present investigation throws conceptual, theoretical and oral foundations, from the political memory of the Elders who have contributed to the organizational political process at local, zonal and regional level in the land recoveries in the Quiguanás village, in Inzá - Cauca municipality, as a strategy of struggle and resistance to continue speaking in the Regional Indigenous Council from Cauca - RICC. The results obtained are based on the stories of life, of each of the Elders who are part of the memory of the community and who are being forgotten in modern times, so it is necessary to begin a process of awareness in the youth of the community so that they value their political and spiritual knowledge to live well and in harmony with our Mother Earth. Therefore, the basis of the indigenous movement is the unity in the diversity of thoughts for the claim of collective rights from the resistance and recovery of Mother Earth as the fundamental axis of the indigenous being to survive in time and space as being Nasa , thought that has been bequeathed to the next generationsLa presente investigación arroja fundamentaciones conceptuales, teóricas y orales, desde la memoria política de los Mayores que han aportado al proceso político organizativo a nivel local, zonal y regional en las recuperaciones de tierras en la vereda Quiguanás, en el municipio de Inzá – Cauca, como estrategia de lucha y de resistencia para seguir caminando la palabra en el Consejo Regional Indígena del Cauca – CRIC. Los resultados obtenidos parten de las historias de vida, de cada uno de los Mayores que hacen parte de la memoria de la comunidad y que están siendo olvidados en tiempos modernos, por lo que es necesario empezar un proceso de sensibilización en los jóvenes de la comunidad para que valoren su saber político y espiritual para vivir bien y en armonía con nuestra Madre Tierra. Por lo tanto, la base del movimiento indígena es la unidad en la diversidad de pensamientos para la reivindicación de derechos colectivos desde la resistencia y recuperación de la Madre Tierra como eje fundamental del ser indígena para pervivir en el tiempo y en el espacio como ser Nasa, pensamiento que se ha legado a las próximas generaciones

Rehabilitación Cardiaca. Estudio MAREC, diagnóstico de la situación de Enfermería en España

The research on Cardiac Prevention and Rehabilitation Programs of the Marec Study is born within the Spanish Association of Nursing in Cardiology. Objective: to describe the available resources, the participation, the tasks and the level of autonomy of nursing in Cardiac Prevention and Rehabilitation in Spain. Methodology: cross-sectional descriptive study carried out through a self-administered online questionnaire of 211 items on the Cardiac Prevention and Rehabilitation Programs of public, private or state-contracted hospitals in Spain. Results: 66.7% (n=56) of the centres having been studied (n=84) had these programs. The Autonomous Communities of Balearic Islands, Navarra, La Rioja, Ceuta and Melilla did not have them. The national average was 1.20 units per million inhabitants. The hierarchical rank was Unit 82.1%, Section 14.3% and Service 3.6%. The average m2 of the gym was 75.8 m2 and 26% of the gyms had ≤ 40 m2 . 12.5% of the gyms did not have telemetry and 8.9% did not have a cardiac arrest trolley. A basic team of professionals is reported by 32.1% and a complex one by 67.9% of the gyms. Concerning post-graduate training, 100% of them had not completed the doctorate and 78.6% of them did not have a master‘s degree. Nursing referred to other specialties in 82.1% (n=28) and in 14.3% performed drug titration always or most of the times. And only in 40.4% a comprehensive evaluation report was made and submitted. Conclusions: in Spain, there persist in these programs care inequalities due to geographical reasons and to the fragility in human resources, materials and activities. It is mandatory that the nursing collective becomes aware of the necessity to record and document their care interventions. The high referral by nursing to other specialties (consultation for tobacco use, nutritionist, psychologist, etc.) is evidenced; however, for drug titration it is low, this being a field that requires a high level of competence.La investigación sobre los Programas de Prevención y Rehabilitación Cardiaca del Estudio MAREC nace en el seno de la Asociación Española de Enfermería en Cardiología. Objetivo: describir los recursos disponibles, participación, tareas y nivel de autonomía de la enfermería de Prevención y Rehabilitación Cardiaca en España. Metodología: estudio descriptivo transversal realizado mediante un cuestionario online autoadministrado de 211 ítems sobre los Programas de Prevención y Rehabilitación Cardiaca de los hospitales públicos, privados o concertados de España. Resultados: el 66,7% (n=56) de los centros estudiados (n=84) contaban con estos programas. Las comunidades autónomas de las Islas Baleares, Navarra, La Rioja, Ceuta y Melilla no disponían de ellos. La media nacional fue de 1,20 unidades por millón de habitantes. El rango jerárquico fue de Unidad en el 82,1%, de Sección en el 14,3% y de Servicio en el 3,6%. La media de m2 del gimnasio fue de 75,8 m2 y el 26% disponía de ≤ 40 m2 . El 12,5% no disponía de telemetría y el 8,9% de carro de parada. Detallan equipo básico de profesionales el 32,1% de los centros y complejo el 67,9%. Para la formación postgrado el 100% no había realizado el doctorado y el 78,6% un máster. Enfermería derivaba a otras especialidades en el 82,1% (n=28) y el 14,3% realizaba titulación de fármacos siempre o la mayoría de las veces. Y sólo el 40,4% realizaba y entregaba un informe de evaluación integral. Conclusiones: en España persisten en estos programas las desigualdades asistenciales por motivos geográficos y la fragilidad en recursos humanos, materiales y las actividades. Es ineludible la concienciación del colectivo de enfermería de registrar y documentar sus intervenciones asistenciales. Se evidencia la alta derivación por enfermería a otras especialidades (consulta tabaco, nutricionista, psicólogo, etc.), sin embargo la de titulación de fármacos es baja, ámbito que precisa de un alto nivel competencial

Mujeres Indígenas, Territorialidad y Biodiversidad en el contexto Latinoamericano

Mujeres indígenas, territorialidad y biodiversidad en el contexto latinoamericano, se articula en torno a cinco ejes temáticos: participación política y ambiental, reconfiguraciones territoriales, conocimientos tradicionales y biodiversidad, alternativas desde lo local, y políticas globales y sus efectos locales. Estos temas se desarrollan a lo largo de 28 textos, desde la perspectiva indígena y no indígena, los cuales presentan las voces, demandas, situaciones y propuestas de las mujeres de 19 pueblos indígenas habitantes de 11 países latinoamericanos. De igual manera, se presentan diversos análisis sobre las políticas globales y nacionales (biodiversidad, objetivos del milenio, desarrollos, entre otros) y sus efectos en relación con las propuestas y las prácticas de las mujeres indígenas. En síntesis, este libro agrupa una serie de artículos que quieren aportar a la discusión contemporánea sobre las problemáticas de las mujeres indígenas en Latinoamérica

The Spanish version of Face-Name Associative Memory Exam (S-FNAME) performance is related to amyloid burden in Subjective Cognitive Decline

The Face-Name Associative Memory Exam (FNAME) is a paired associative memory test created to detect memory deficits in individuals with preclinical Alzheimer’s disease (AD). Worse performance on FNAME in cognitively healthy individuals were found related to higher amyloid beta (Aβ) burden measured with Positron-Emission-Tomography using 11C-PiB (PiB-PET). We previously reported normative data of a Spanish version of FNAME (S-FNAME) in cognitively healthy Spanish-speaking subjects. The aim of the present study was to determine whether performance on S-FNAME was associated with Aβ burden in subjective cognitive decline (SCD) individuals. 200 SCD subjects received neurological and neuropsychological assessments, including the S-FNAME and the Word List task from the Wechsler-Memory-Scale-III (WMS-III). Moreover, they received an MRI and (18)F-Florbetaben Positron-Emission-Tomography (FBB-PET) to measure Aβ burden. Three cognitive factor composites were derived for the episodic memory measures (face-name [SFN-N], face-occupation [SFN-O] and WMS-III) to determine whether episodic memory performance was related to Aβ deposition. Higher global Aβ deposition was significantly related to worse performance on SFN-N but not with SFN-O or WMS-III Composite. Moreover, worse SFN-N performance was significantly related to higher Aβ deposition in bilateral Posterior Cingulate Cortex. The S-FNAME may be a promising neuropsychological tool for detecting SCD individuals with preclinical AD

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease