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1.
iScience ; 26(12): 108534, 2023 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-38089583

RESUMEN

There is a need for affordable, scalable, and specific blood-based biomarkers for Alzheimer's disease that can be applied to a population level. We have developed and validated disease-specific cell-free transcriptomic blood-based biomarkers composed by a scalable number of transcripts that capture AD pathobiology even in the presymptomatic stages of the disease. Accuracies are in the range of the current CSF and plasma biomarkers, and specificities are high against other neurodegenerative diseases.

2.
Med. segur. trab ; 69(270): 28-39, 14 sept. 2023. tab
Artículo en Español | IBECS | ID: ibc-225333

RESUMEN

Objetivo: Estimar el grado de alfabetización para la salud (AS) de las técnicas en cuidados auxiliares de enfermería (TCAE) y del personal no sanitario perteneciente a la plantilla laboral de 4 hospitales españoles.Método: Estudio descriptivo-correlacional, siendo la población diana las TCAE a quienes se preguntó, mediante formulario online HLS-EU-Q16 (Health Literacy Survey - European Union), con escala Likert de 4 valores (de 1 muy fácil a 4 muy difícil). Resultados: Respondieron 477 profesionales. Los resultados para la AS global fueron: media 1,95 ± 0,03 y mediana 1,94. El nivel de alfabetización en salud (NAS) demostró AS suficiente en 293 (61,43%) individuos. La mediana sobre la AS de los 3 componentes del cuestionario fue: cuidado sanitario = 2, prevención de enfermedades = 2 y promo-ción de la salud = 1,75. El ítem sobre sobre la manera de abordar problemas de salud mental es el que presentó mayor dificultad con media de 2,45 ± 0,04 y mediana igual a 2. No hubo diferencias significativas entre TCAE y el personal no sanitario.Conclusiones: El grado de AS de las TCAE resultó ser bueno, tanto a nivel global como en las dimensiones de aten-ción y cuidado sanitario, prevención de enfermedades y promoción de la salud. Asimismo, el nivel de alfabetización en salud que se obtuvo resultó ser suficiente en la mayoría de ellas. No se encontró diferencias con el personal no sanitario perteneciente a la plantilla laboral de 4 hospitales estudiados (AU)


Objetive: To estimate the degree of health literacy (HL) of nursing auxiliary care technicians (NACT) and non-health personnel belonging to the workforce of 4 Spanish hospitals.Method: A descriptive-correlational research, with NACT as target population. They were asked, using the online form HLS-EU-Q16 (Health Literacy Survey - European Union), with a Likert scale of 4 values (from 1 very easy to 4 very difficult).Results: 477 professionals answered the form. The results for global SA were: mean 1.95 ± 0.03 and median 1.94. The health literacy level (HLL) demonstrated sufficient HL in 293 (61.43%) individuals. The median on the HL for the 3 components of the questionnaire was: health care = 2, disease prevention = 2 and health promotion = 1.75. The item about how to deal with mental health problems showed the greatest difficulty with a mean of 2.45 ± 0.04 and a median equal to 2. There were no significant differences between NACT and non-health personnel. Conclusions: The HL grade of the NACTs turned out to be good, both globally and in the dimensions of attention and health care, disease prevention and health promotion. Likewise, the level of health literacy obtained turned out to be enough in most of them. No differences were found with the non-health personnel belonging to the workforce of the 4 hospitals researched (AU)


Asunto(s)
Humanos , Masculino , Femenino , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Personal de Hospital , Técnicos Medios en Salud , Asistentes de Enfermería , Alfabetización en Salud , Encuestas y Cuestionarios , Estudios Transversales , España
3.
Nutrients ; 15(13)2023 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-37447329

RESUMEN

Although the prevalence of pediatric obesity is rising, understanding of the perceptions, attitudes, behaviors, and barriers to effective obesity care among Spanish adolescents living with obesity (ALwO), their caregivers, and healthcare professionals (HCPs) is lacking. In 2021, the cross-sectional ACTION Teens survey study was conducted in 10 countries; results from the Spanish cohort are presented herein. The survey was completed by 648 ALwO, 644 caregivers, and 251 HCPs in Spain. A total of 25% of ALwO and 43% of caregivers thought that their/their child's weight was normal, and more caregivers than ALwO perceived the ALwO's health to be at least good (95% vs. 59%, respectively). Only 53% of ALwO and 9% of caregivers reported receiving an obesity diagnosis, despite HCPs reporting they provide diagnoses to 87% of ALwO/caregivers. Although 65% of HCPs felt that ALwO may not be comfortable discussing weight, only 26% of ALwO who had discussed weight with an HCP (n = 488) reported not feeling comfortable. Inability to control hunger was a key barrier to ALwO losing weight identified by ALwO/caregivers, but not HCPs. Improved communication between the three groups, a better understanding of barriers to weight loss, and improved health education on obesity are needed in order to enhance obesity care in Spain.


Asunto(s)
Cuidadores , Obesidad Infantil , Niño , Humanos , Adolescente , España/epidemiología , Estudios Transversales , Obesidad Infantil/epidemiología , Obesidad Infantil/terapia , Personal de Salud , Actitud , Atención a la Salud
4.
Nat Commun ; 14(1): 2314, 2023 04 21.
Artículo en Inglés | MEDLINE | ID: mdl-37085492

RESUMEN

Genetic studies of Alzheimer disease (AD) have prioritized variants in genes related to the amyloid cascade, lipid metabolism, and neuroimmune modulation. However, the cell-specific effect of variants in these genes is not fully understood. Here, we perform single-nucleus RNA-sequencing (snRNA-seq) on nearly 300,000 nuclei from the parietal cortex of AD autosomal dominant (APP and PSEN1) and risk-modifying variant (APOE, TREM2 and MS4A) carriers. Within individual cell types, we capture genes commonly dysregulated across variant groups. However, specific transcriptional states are more prevalent within variant carriers. TREM2 oligodendrocytes show a dysregulated autophagy-lysosomal pathway, MS4A microglia have dysregulated complement cascade genes, and APOEε4 inhibitory neurons display signs of ferroptosis. All cell types have enriched states in autosomal dominant carriers. We leverage differential expression and single-nucleus ATAC-seq to map GWAS signals to effector cell types including the NCK2 signal to neurons in addition to the initially proposed microglia. Overall, our results provide insights into the transcriptional diversity resulting from AD genetic architecture and cellular heterogeneity. The data can be explored on the online browser ( http://web.hararilab.org/SNARE/ ).


Asunto(s)
Enfermedad de Alzheimer , Humanos , Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/metabolismo , Heterocigoto , Microglía/metabolismo , Lóbulo Parietal/metabolismo , ARN/metabolismo
5.
Alzheimers Dement ; 19(9): 3835-3847, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-36951251

RESUMEN

INTRODUCTION: Genetic associations with Alzheimer's disease (AD) age at onset (AAO) could reveal genetic variants with therapeutic applications. We present a large Colombian kindred with autosomal dominant AD (ADAD) as a unique opportunity to discover AAO genetic associations. METHODS: A genetic association study was conducted to examine ADAD AAO in 340 individuals with the PSEN1 E280A mutation via TOPMed array imputation. Replication was assessed in two ADAD cohorts, one sporadic early-onset AD study and four late-onset AD studies. RESULTS: 13 variants had p<1×10-7 or p<1×10-5 with replication including three independent loci with candidate associations with clusterin including near CLU. Other suggestive associations were identified in or near HS3ST1, HSPG2, ACE, LRP1B, TSPAN10, and TSPAN14. DISCUSSION: Variants with suggestive associations with AAO were associated with biological processes including clusterin, heparin sulfate, and amyloid processing. The detection of these effects in the presence of a strong mutation for ADAD reinforces their potentially impactful role.


Asunto(s)
Enfermedad de Alzheimer , Clusterina , Humanos , Clusterina/genética , Colombia , Enfermedad de Alzheimer/diagnóstico , Mutación/genética , Amiloide , Presenilina-1/genética , Edad de Inicio
6.
Alzheimers Dement ; 19(5): 1785-1799, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36251323

RESUMEN

INTRODUCTION: The identification of multiple genetic risk factors for Alzheimer's disease (AD) suggests that many pathways contribute to AD onset and progression. However, the metabolomic and lipidomic profiles in carriers of distinct genetic risk factors are not fully understood. The metabolome can provide a direct image of dysregulated pathways in the brain. METHODS: We interrogated metabolomic signatures in the AD brain, including carriers of pathogenic variants in APP, PSEN1, and PSEN2 (autosomal dominant AD; ADAD), APOE ɛ4, and TREM2 risk variant carriers, and sporadic AD (sAD). RESULTS: We identified 133 unique and shared metabolites associated with ADAD, TREM2, and sAD. We identified a signature of 16 metabolites significantly altered between groups and associated with AD duration. DISCUSSION: AD genetic variants show distinct metabolic perturbations. Investigation of these metabolites may provide greater insight into the etiology of AD and its impact on clinical presentation. HIGHLIGHTS: APP/PSEN1/PSEN2 and TREM2 variant carriers show distinct metabolic changes. A total of 133 metabolites were differentially abundant in AD genetic groups. ß-citrylglutamate is differentially abundant in autosomal dominant, TREM2, and sporadic AD. A 16-metabolite profile shows differences between Alzheimer's disease (AD) genetic groups. The identified metabolic profile is associated with duration of disease.


Asunto(s)
Enfermedad de Alzheimer , Humanos , Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/patología , Precursor de Proteína beta-Amiloide/genética , Encéfalo/patología , Heterocigoto , Lipidómica , Mutación , Presenilina-1/genética
7.
Nat Genet ; 54(12): 1786-1794, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-36411364

RESUMEN

Alzheimer's disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare variants2. Here, we compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals-16,036 AD cases and 16,522 controls. Next to variants in TREM2, SORL1 and ABCA7, we observed a significant association of rare, predicted damaging variants in ATP8B4 and ABCA1 with AD risk, and a suggestive signal in ADAM10. Additionally, the rare-variant burden in RIN3, CLU, ZCWPW1 and ACE highlighted these genes as potential drivers of respective AD-genome-wide association study loci. Variants associated with the strongest effect on AD risk, in particular loss-of-function variants, are enriched in early-onset AD cases. Our results provide additional evidence for a major role for amyloid-ß precursor protein processing, amyloid-ß aggregation, lipid metabolism and microglial function in AD.


Asunto(s)
Transportador 1 de Casete de Unión a ATP , Adenosina Trifosfatasas , Enfermedad de Alzheimer , Exosomas , Humanos , Adenosina Trifosfatasas/genética , Enfermedad de Alzheimer/genética , Transportador 1 de Casete de Unión a ATP/genética , Estudio de Asociación del Genoma Completo , Factores de Riesgo , Exosomas/genética
8.
Alzheimers Res Ther ; 14(1): 108, 2022 08 05.
Artículo en Inglés | MEDLINE | ID: mdl-35932032

RESUMEN

BACKGROUND: In fewer than 1% of patients, AD is caused by autosomal dominant mutations in either the presenilin 1 (PSEN1), presenilin 2 (PSEN2), or amyloid precursor protein (APP) genes. The full extent of familial AD and frequency of these variants remains understudied in Latin American (LatAm) countries. Due to the rare nature of these variants, determining the pathogenicity of a novel variant in these genes can be challenging. Here, we use a systematic approach to assign the likelihood of pathogenicity in variants from densely affected families in Latin American populations. METHODS: Clinical data was collected from LatAm families at risk for DIAD. Symptomatic family members were identified and assessed by local clinicians and referred for genetic counseling and testing. To determine the likelihood of pathogenicity among variants of unknown significance from LatAm populations, we report pedigree information, frequency in control populations, in silico predictions, and cell-based models of amyloid-beta ratios. RESULTS: We identified five novel variants in the presenilin1 (PSEN1) gene from Brazilian and Mexican families. The mean age at onset in newly identified families was 43.5 years (range 36-54). PSEN1 p.Val103_Ser104delinsGly, p.Lys395Ile, p.Pro264Se, p.Ala275Thr, and p.Ile414Thr variants have not been reported in PubMed, ClinVar, and have not been reported in dominantly inherited AD (DIAD) families. We found that PSEN1 p.Val103_Ser104delinsGly, p.Lys395Ile, p.Pro264Se, and p.Ala275Thr produce Aß profiles consistent with known AD pathogenic mutations. PSEN1 p.Ile414Thr did not alter Aß in a manner consistent with a known pathogenic mutation. CONCLUSIONS: Our study provides further insights into the genetics of AD in LatAm. Based on our findings, including clinical presentation, imaging, genetic, segregations studies, and cell-based analysis, we propose that PSEN1 p.Val103_Ser104delinsGly, p.Lys395Ile, p.Pro264Se, and p.Ala275Thr are likely pathogenic variants resulting in DIAD, whereas PSEN1 p.Ile414Thr is likely a risk factor. This report is a step forward to improving the inclusion/engagement of LatAm families in research. Family discovery is of great relevance for the region, as new initiatives are underway to extend clinical trials and observational studies to families living with DIAD.


Asunto(s)
Enfermedad de Alzheimer , Adulto , Enfermedad de Alzheimer/genética , Precursor de Proteína beta-Amiloide/genética , Humanos , América Latina , Persona de Mediana Edad , Mutación/genética , Presenilina-1/genética
10.
Acta Neuropathol Commun ; 10(1): 29, 2022 03 04.
Artículo en Inglés | MEDLINE | ID: mdl-35246267

RESUMEN

BACKGROUND: Autosomal-dominant Alzheimer's disease (ADAD) is caused by pathogenic mutations in APP, PSEN1, and PSEN2, which usually lead to an early age at onset (< 65). Circular RNAs are a family of non-coding RNAs highly expressed in the nervous system and especially in synapses. We aimed to investigate differences in brain gene expression of linear and circular transcripts from the three ADAD genes in controls, sporadic AD, and ADAD. METHODS: We obtained and sequenced RNA from brain cortex using standard protocols. Linear counts were obtained using the TOPMed pipeline; circular counts, using python package DCC. After stringent quality control (QC), we obtained the counts for PSEN1, PSEN2 and APP genes. Only circPSEN1 passed QC. We used DESeq2 to compare the counts across groups, correcting for biological and technical variables. Finally, we performed in-silico functional analyses using the Circular RNA interactome website and DIANA mirPath software. RESULTS: Our results show significant differences in gene counts of circPSEN1 in ADAD individuals, when compared to sporadic AD and controls (ADAD = 21, AD = 253, Controls = 23-ADADvsCO: log2FC = 0.794, p = 1.63 × 10-04, ADADvsAD: log2FC = 0.602, p = 8.22 × 10-04). The high gene counts are contributed by two circPSEN1 species (hsa_circ_0008521 and hsa_circ_0003848). No significant differences were observed in linear PSEN1 gene expression between cases and controls, indicating that this finding is specific to the circular forms. In addition, the high circPSEN1 levels do not seem to be specific to PSEN1 mutation carriers; the counts are also elevated in APP and PSEN2 mutation carriers. In-silico functional analyses suggest that circPSEN1 is involved in several pathways such as axon guidance (p = 3.39 × 10-07), hippo signaling pathway (p = 7.38 × 10-07), lysine degradation (p = 2.48 × 10-05) or Wnt signaling pathway (p = 5.58 × 10-04) among other KEGG pathways. Additionally, circPSEN1 counts were able to discriminate ADAD from sporadic AD and controls with an AUC above 0.70. CONCLUSIONS: Our findings show the differential expression of circPSEN1 is increased in ADAD. Given the biological function previously ascribed to circular RNAs and the results of our in-silico analyses, we hypothesize that this finding might be related to neuroinflammatory events that lead or that are caused by the accumulation of amyloid-beta.


Asunto(s)
Enfermedad de Alzheimer , Humanos , Enfermedad de Alzheimer/metabolismo , Precursor de Proteína beta-Amiloide/genética , Precursor de Proteína beta-Amiloide/metabolismo , Encéfalo/metabolismo , Mutación , Presenilina-1/genética , Presenilina-1/metabolismo , ARN Circular/genética
12.
J Interpers Violence ; 37(15-16): NP13623-NP13653, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-33843314

RESUMEN

Bullying is a severe public health problem, and bystanders' reactions are a key variable in its perpetration and maintenance. This study aimed to assess the level of secondary victimization of bullying victims as a function of the student's sex and the victim's category (nonnormative vs. normative) in three experimental conditions (feminine, masculine, and ethnicity) from a socioecological perspective. Specifically, two dimensions of secondary victimization were evaluated: avoidance and devaluation/blaming of the victim. A sequence of mixed-design ANOVAs was performed with a sample of 553 Spanish (53.3%) and Portuguese (46.7%) students, aged between 14 and 19 years. Results show that nonnormative victims, those who transgress feminine and masculine gender stereotypes, and those who belong to a minority ethnic group (gypsies) are avoided more than normative victims; and that boys perpetrate more secondary victimization than girls. These results reveal the situation of vulnerability suffered by adolescents who transgress the gender norm as well as those who belong to minority ethnic groups, and highlight that the motivations concealed by the secondary victimization of bullying victims originate in the group processes of identity construction and categorization that configure the boundaries of "legitimacy" and are strongly influenced by social beliefs about normative and nonnormative identities. This socioecological approach could guide prevention strategies, so generic antibullying policies that do not explicitly address biases about gender, sexual, and cultural identity can be overcome to reduce the high levels of stigma occurring in the schools through critical and culturally responsive pedagogy.


Asunto(s)
Acoso Escolar , Víctimas de Crimen , Adolescente , Adulto , Etnicidad , Femenino , Humanos , Masculino , Instituciones Académicas , Estudiantes , Adulto Joven
13.
Child Youth Care Forum ; 51(2): 329-346, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34149270

RESUMEN

Background: The process of transition to adult life of youth with a record of protection is crucial to overcome the difficulties to achieve an independent life. Objective: This research aims to analyze the conditions under which protected youth are emancipated, as well as the factors that facilitate emancipation. Method: A qualitative study was performed with three samples: longitudinal follow-ups with youths when they exit the system and during 12 months (N = 24); life stories of youths who have exited the child welfare system at least 2 years ago and a maximum of 5 years ago (N = 22); interviews with professionals conducting their intervention in adolescent protection resources (N = 18). Results: The results indicate that protective action is not enabling youths' learning in normalized contexts, which negatively affects the conditions under which emancipation occurs. The experience of the protective action conditions the tendency to benefit from the post-majority socio-educational accompaniment. Conclusions: The importance of socio-educational intervention continuing during the first moments of emancipation, providing professional accompaniment to the entire collective, is highlighted.

14.
Rev. latinoam. psicol ; 53: 1-9, jul.-dic. 2021. tab
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1347625

RESUMEN

Resumen Introducción/objetivo: El acoso sexual es una de las violencias que más debe preocupar a la comunidad educativa, por ello, el objetivo de este estudio consiste en analizar los conocimientos, las percepciones y las actitudes de los y las estudiantes universitarios hacia el acoso sexual. Método: Desde un enfoque cualitativo se han realizado diez entrevistas individuales a estudiantes (seis alumnas y cuatro alumnos) y ocho grupos de discusión heterogéneos formados por 67 estudiantes. Todos pertenecientes a una universidad de carácter público situada en el noroeste de España. Resultados: El alumnado tiene pocos conocimientos sobre el acoso sexual y, además, no recibe formación que le otorgue las herramientas que le permitan identificarlo y combatirlo. Asimismo, la mayoría de los/as participantes expresa que el acoso sexual es habitual en el entorno académico, pero que está invisibilizado. A través de sus propias palabras se identifica que perciben actitudes permisivas hacia el acoso sexual por parte de los/as docentes y de la universidad, considerando que no hay una verdadera implicación para intervenir en las situaciones de acoso. Conclusiones: Es necesario que la universidad se comprometa a implementar estrategias de prevención e intervención, con el propósito de identificar, sancionar y erradicar todas y cada una de las formas de violencia, incluido el acoso sexual.


Abstract Introduction/objective: Sexual harassment is one of the types of violence that should most concern the educational community, consequently, the objective of this study is to analyze the knowledge, perceptions and attitudes of university students towards sexual harassment. Method: From a qualitative approach, ten individual interviews were carried out with students (six female students and four male students) and eight heterogeneous discussion groups made up of 67 students. All of them belong to a public university located in the northwest of Spain. Results: The students have little knowledge about sexual harassment and, in addition, they do not receive training that gives them the tools that allow them to identify and combat it. Likewise, most of the participants express that sexual harassment is common in the academic environment, but that it is invisible. Through their own words, it is identified that they perceive permissive attitudes towards sexual harassment on the part of teachers and the university, considering that there is no real implication to intervene in harassment situations. Conclusions: It is necessary for the university to commit to implement prevention and intervention strategies, in order to identify, punish and eradicate each and every one of the forms of violence, including sexual harassment.

15.
Genes (Basel) ; 12(8)2021 08 15.
Artículo en Inglés | MEDLINE | ID: mdl-34440421

RESUMEN

Alzheimer's disease (AD) has become a common disease of the elderly for which no cure currently exists. After over 30 years of intensive research, we have gained extensive knowledge of the genetic and molecular factors involved and their interplay in disease. These findings suggest that different subgroups of AD may exist. Not only are we starting to treat autosomal dominant cases differently from sporadic cases, but we could be observing different underlying pathological mechanisms related to the amyloid cascade hypothesis, immune dysfunction, and a tau-dependent pathology. Genetic, molecular, and, more recently, multi-omic evidence support each of these scenarios, which are highly interconnected but can also point to the different subgroups of AD. The identification of the pathologic triggers and order of events in the disease processes are key to the design of treatments and therapies. Prevention and treatment of AD cannot be attempted using a single approach; different therapeutic strategies at specific disease stages may be appropriate. For successful prevention and treatment, biomarker assays must be designed so that patients can be more accurately monitored at specific points during the course of the disease and potential treatment. In addition, to advance the development of therapeutic drugs, models that better mimic the complexity of the human brain are needed; there have been several advances in this arena. Here, we review significant, recent developments in genetics, omics, and molecular studies that have contributed to the understanding of this disease. We also discuss the implications that these contributions have on medicine.


Asunto(s)
Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/metabolismo , Enfermedad de Alzheimer/terapia , Péptidos beta-Amiloides/metabolismo , Biomarcadores/metabolismo , Humanos
16.
Soc Work ; 66(4): 348-357, 2021 Oct 02.
Artículo en Inglés | MEDLINE | ID: mdl-34417825

RESUMEN

This article aims to break with two social stereotypes often held about Latinas in Spain. Authors analyze Latinas' main strengths from a resilient and intersectional approach, to consider them holistically within social work interventions. Rather than focusing on Latinas' difficulties, authors point to their multiple strengths and the ability to move forward. The study took place in the province of Tarragona, Catalonia (Spain). A qualitative approach was used. Participants included Latinas living in Tarragona and social workers from the Tarragona social services. The techniques used were nine life stories and 59 semi-open questionnaires with Latinas, and 14 interviews with social workers. The authors identified a fighting attitude and an entrepreneurial and creative spirit as both individual and collective strengths, especially within Latinas' social networks. Latinas did not recognize themselves as victims, nor did they claim to assume that identity. The social workers' interventions are implemented in a weak welfare system based on a model characterized by a paternalistic and victim-based viewpoint. Adopting approaches such as intersectionality and resilience would allow for the creation of fairer policies, programs, and projects targeted for Latinas, not just in Spain, but in other countries, too.


Asunto(s)
Hispánicos o Latinos , Servicio Social , Actitud , Humanos , España , Encuestas y Cuestionarios
17.
Nat Neurosci ; 24(9): 1302-1312, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34239129

RESUMEN

Understanding the tissue-specific genetic controls of protein levels is essential to uncover mechanisms of post-transcriptional gene regulation. In this study, we generated a genomic atlas of protein levels in three tissues relevant to neurological disorders (brain, cerebrospinal fluid and plasma) by profiling thousands of proteins from participants with and without Alzheimer's disease. We identified 274, 127 and 32 protein quantitative trait loci (pQTLs) for cerebrospinal fluid, plasma and brain, respectively. cis-pQTLs were more likely to be tissue shared, but trans-pQTLs tended to be tissue specific. Between 48.0% and 76.6% of pQTLs did not co-localize with expression, splicing, DNA methylation or histone acetylation QTLs. Using Mendelian randomization, we nominated proteins implicated in neurological diseases, including Alzheimer's disease, Parkinson's disease and stroke. This first multi-tissue study will be instrumental to map signals from genome-wide association studies onto functional genes, to discover pathways and to identify drug targets for neurological diseases.


Asunto(s)
Enfermedad de Alzheimer , Encéfalo/metabolismo , Líquido Cefalorraquídeo/metabolismo , Plasma/metabolismo , Sitios de Carácter Cuantitativo , Anciano , Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/metabolismo , Femenino , Regulación de la Expresión Génica , Ensayos Analíticos de Alto Rendimiento/métodos , Humanos , Masculino , Persona de Mediana Edad , Proteoma , Proteómica/métodos
18.
Artículo en Inglés | MEDLINE | ID: mdl-33806507

RESUMEN

Adolescence, a period of physical, social, cognitive and emotional development, represents a target population for sexual health promotion and education when it comes to achieving the 2030 Agenda goals for sustainable and equitable societies. The aim of this study is to provide an overview of what is known about the dissemination and effectiveness of sex education programs and thereby to inform better public policy making in this area. Methodology: We carried out a systematic review based on international scientific literature, in which only peer-reviewed papers were included. To identify reviews, we carried out an electronic search of the Cochrane Database Reviews, ERIC, Web of Science, PubMed, Medline, Scopus and PsycINFO. This paper provides a narrative review of reviews of the literature from 2015 to 2020. Results: 20 reviews met the inclusion criteria (10 in school settings, 9 using digital platforms and 1 blended learning program): they focused mainly on reducing risk behaviors (e.g., VIH/STIs and unwanted pregnancies), whilst obviating themes such as desire and pleasure, which were not included in outcome evaluations. The reviews with the lowest risk of bias are those carried out in school settings and are the ones that most question the effectiveness of sex education programs. Whilst the reviews of digital platforms and blended learning show greater effectiveness in terms of promoting sexual and reproductive health in adolescents (ASRH), they nevertheless also include greater risks of bias. Conclusion: A more rigorous assessment of the effectiveness of sexual education programs is necessary, especially regarding the opportunities offered by new technologies, which may lead to more cost-effective interventions than with in-person programs. Moreover, blended learning programs offer a promising way forward, as they combine the best of face-to-face and digital interventions, and may provide an excellent tool in the new context of the COVID-19 pandemic.


Asunto(s)
COVID-19 , Educación Sexual , Adolescente , Femenino , Humanos , Aprendizaje , Pandemias , Embarazo , SARS-CoV-2
19.
Artículo en Inglés | MEDLINE | ID: mdl-33672240

RESUMEN

BACKGROUND: Within the context of the widespread use of technologies by adolescents, the objectives of this study were to identify the perpetrators of intimate partner cyberstalking (IPCS) in adolescents; to analyze the relationship between IPCS and gender, age, sexting behaviors, pornography consumption, and ambivalent sexism; and to investigate the influence of the study variables as predictors of IPCS and determine their moderating role. METHODS: Participants were 993 Spanish students of Secondary Education, 535 girls and 458 boys with mean age 15.75 (SD = 1.47). Of the total sample, 70.3% (n = 696) had or had had a partner. RESULTS: Boys perform more sexting, consume more pornographic content, and have more hostile and benevolent sexist attitudes than girls. However, girls perpetrate more IPCS than boys. The results of the hierarchical multiple regression indicate that hostile sexism is a predictor of IPCS, as well as the combined effect of Gender × Pornography and Benevolent Sexism × Sexting. CONCLUSIONS: it is essential to implement sexual affective education programs in schools in which Information and Communication Technologies (ICT) are incorporated so that boys and girls can experience their relationships, both offline and online, in an egalitarian and violence-free way.


Asunto(s)
Literatura Erótica , Violencia de Pareja , Adolescente , Femenino , Humanos , Masculino , Educación Sexual , Sexismo , Conducta Sexual , Parejas Sexuales
20.
Artículo en Inglés | MEDLINE | ID: mdl-33672323

RESUMEN

BACKGROUND: The prevailing sex education (SE) model falls within a neoliberal prevention- and risk-oriented paradigm. This model ignores the identity dimension of sexuality, is based on the cis-heteronormative and ethnocentric matrix and stigmatizes sexual and cultural diversity; this has significant consequences for sexually and culturally diverse adolescents and youth. In this study, we explored the potential of the identity dimension of SE to prevent violence toward sexual and cultural diversity. Specifically, our objective was to identify the influence of heteronormative and ethnocentric variables on violence exerted against trans* and gender-diverse people and people from minority ethnic groups. METHODS: A total of 623 Spanish adolescents with a mean age of 14.73 years and an age range of 13 to 18 years participated in the study. Students completed a questionnaire that included measures regarding violence toward sexual and cultural diversity, gender stereotypes, sexist attitudes and rejection of sexual and cultural diversity. We performed two hierarchical linear regression models. RESULTS: Students who exerted the highest amount of violence toward trans* and gender-diverse people were those who showed the lowest endorsement of expressive traits and the highest endorsement of instrumental traits as well as the highest level of hostile sexist, heteronormative and hostile racist attitudes (the five predictor variables explained 29.1% of the variance of gender-bashing). These same variables-except expressiveness-and benevolent sexism explained 46.1% of the variance of rejection of minority ethnic groups. CONCLUSIONS: There is a need for a comprehensive, intercultural, critical and queer SE aimed at transforming the classroom into a space that promotes social transformation through an educational practice that is transgressive and critical of cis-heteronormativity and normative ethnocentrism.


Asunto(s)
Diversidad Cultural , Minorías Sexuales y de Género , Adolescente , Identidad de Género , Humanos , Educación Sexual , Violencia/prevención & control
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