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The role of genetic ancestry in Alzheimer’s disease: Comparative methodology, framework development and genome-wide association analysis
Curs 2023-2024Understanding the role of genetic ancestry in Alzheimer's disease (AD) is crucial for uncovering the complexities of this neurodegenerative disorder. While most studies account for global ancestry, providing a broad understanding of human genetic variation, local genetic ancestry may offer a more nuanced perspective.
The objective of this project was twofold. First, we aimed to develop a comparative framework for integrating Local Ancestry Inference (LAI) in Genome-Wide Association Studies (GWAS). Then, as a proof of concept, we evaluated whether local genetic ancestry influenced the identification of genetic variants associated with endophenotypes of AD, such as hippocampal volume (HV) and cerebrospinal amyloid beta 42 (Aβ42) biomarker levels, within the ALzheimer’s and FAmilies (ALFA) cohort.
The bioinformatics framework incorporated both global and local ancestry into GWAS and regional association analysis, utilizing high-resolution ancestry deconvolution methods. Despite computational challenges and limitations in data accuracy, the study demonstrates that LAI provides significant insights into genetic variants associated with AD, which are not captured by traditional GWAS methods. The findings emphasize the importance of considering local ancestry in genetic research to improve the accuracy and applicability of results across diverse populations.
Keywords: Alzheimer’s disease; APOE; Genetic association studies; Genetic ancestry; local ancestry inferenceAcademic tutor: Josep Maria Serra
La democracia escolar desde las voces del alumnado: gobernanza y habitanza
Trazamos el presente capítulo a partir de los resultados de la investigación
«Demoskole. Democracia, participación y educación inclusiva en los centros
educativos de secundaria», centrada en analizar los discursos y las prácticas de
los agentes educativos (docentes, alumnado y familias) respecto a la participación
y la vivencia de la democracia en los centros de secundaria. Concretamente,
en este capítulo, abordamos la perspectiva del alumnado en cuanto a sus
posibilidades de participación desde las dimensiones de la gobernanza y la
habitanza.
Para ello, en primer lugar, exponemos qué significa participar, partiendo
de la Convención de los Derechos del Niño (1989) y de los tipos de participación
que pueden tener lugar. En segundo lugar, reflexionamos sobre la dimensión
de gobernanza y los retos que plantea. En tercer lugar, abordamos la dimensión
de habitanza y cómo esta es comprendida desde una perspectiva
democrática. El cuarto y quinto apartado los dedicamos a la exposición de los
resultados y al análisis de estos, conectándolos con la idea que tiene el alumnado
en torno a la participación. En el sexto apartado, apuntamos algunas conclusiones
respecto al foco del capítulo y proponemos nuevos horizontes para la
vivencia de la democracia escolar.
Un elemento que destaca de este capítulo es la noción de voz y, por lo tanto,
cómo las voces de los estudiantes se ponen en valor. El concepto de voz o voces
en relación con la infancia y la juventud emerge de dos convicciones: que hacen
referencia a personas con capacidad para expresarse y que tienen el derecho a
hacerlo y a ser escuchadas. Esto se traduce en que niños, niñas y jóvenes puedan
«expresar su opinión» o, como diría Thomson (2008: 4), «having a say».
Desde esta perspectiva de las voces del alumnado, pues, articulamos el siguiente
texto
El branded podcast como estrategia corporativa y de marca: sentido de pertenencia, pedagogía social y posicionamiento
El sonido ha acrecentado las posibilidades para las marcas en sus planes de marketing y comunicación al margen del negocio de la radio. El podcasting, audio que se busca y elige, consumido con la intimidad de unos auriculares, no es prescriptivo ni pasivo, llega hasta lo más profundo de las emociones convirtiendo al branded podcast en un instrumento que acrecienta la identidad corporativa más allá de la venta del producto. A través de podcasts de calidad, profesionalizados, incorporados como parte de las campañas, la organización crea marca, aumenta su presencia social y posicionamiento en el mercado, a la vez que completa su estrategia de comunicación interna. El branded podcast permite variados enfoques desde la información, la pedagogía social o incluso la ficción. Qué buscan las marcas, qué encuentran, y cómo se hace con casos prácticos, son algunas de las claves que analiza este capítulo
Feminist publishing projects after Franco: Solidarity through cultural translation
In the 1960s and 1970s, second-wave feminism promoted important
feminist publishing platforms, especially in North American and European countries.
After the dictatorship of Francisco Franco (1939-1975), the need to seek foreign
ideological mothers led to the emergence of the first feminist series and journals in
Spain. In Barcelona, in 1976, the journal Vindicación Feminista (1976-1979) was
born, giving voice to many international feminist authors and their publications. A
year later, in 1977, in Madrid, the publishing house Debate produced the series
Tribuna Feminista (1977-1982). In 1978, in Barcelona, the first Spanish feminist
publishing house, LaSal. Edicions de les Dones (1978-1990), was founded. In this
article, three post-Francoist feminist publishing projects based on “solidarities” are
presented. All of them were “agents of cultural translation” that shared a main
objective: to normalize Iberian feminism by introducing new literary movements,
works and authors for theoretical discussion after the National-Catholic-patriarchal
regime of Francoism. The arrival of feminist literature through practices of “solidary
cultural translation” was crucial to the social transformations at the time
Effect of Foot Orthoses on Angular Velocity of Feet
There is some uncertainty regarding how foot orthoses (FO) affect the biomechanics of the lower extremities during running in non-injured individuals. This study aims to describe the behavior of the angular velocity of the foot in the stride cycle measured with a low-sampling-rate IMU device commonly used by podiatrists. Specific objectives were to determine if there are differences in angular velocity between the right and left foot and to determine the effect of foot orthoses (FO) on the 3D angular velocity of the foot during running. The sample was composed of 40 male adults (age: 43.0 13.8 years, weight: 72.0 5.5 kg, and height: 175.5 7.0 cm), who were healthy and without any locomotor system alterations at the time of the test. All subjects use FO on a regular basis. The results show that there are significant differences in the transverse plane between feet, with greater differences in the right foot. Significant differences between FO and non-FO conditions were observed in the frontal and transverse planes on the left foot and in the sagittal and transverse planes on the right foot. FO decreases the velocity of the foot in dorsi-plantar flexion and abduction and increases the velocity in inversion. The kinematic changes in foot velocity occur between 30% and 60% of the complete cycle, and the FO reduces the velocity in abduction and dorsi–plantar flexion and increases the velocity in inversion–eversion, which facilitates the transition to the oscillating leg and with it the displacement of the center of mass. Quantifying possible asymmetries and assessing the effect of foot orthoses may aid in improving running mechanics and preventing injuries in individuals
Comprender y escribir lo difícil. Relatar perdiéndose en lo conflictivo de la educación
Mediante una revisión de diferentes experiencias de investigación sobre la historia y política de la
educación, el artículo propone tomar en cuenta lo difícil, pero no como un reto, ni un obstáculo, sino
como parte constituyente tanto de la educación como de la historia. Pensarla, comprenderla,
escribirla y enseñarla son procesos inherentes a la pedagogía en los que inevitablemente topamos
con la dificultad a no ser que nos tapemos los ojos o desviemos la vista. A pesar de que las
costumbres universitarias han litigado para estar en el centro del poder, y se han habituado a unos
discursos vehementes, la cuestión es que tanto la universidad como sus enseñanzas viven en sus
márgenes. Al tener conciencia de ello, esconderse en las palabras retorcidas ya no es una opción
para no afrontar la dificultad de decir lo complejo, lo feo, lo oculto, lo bello y todas aquellas
características que el proceso educativo conlleva. Es percatarse que metodología, epistemología,
ética, política y conocimiento es un todo, también en la investigación educativa.By reviewing several experiences on historical and political education researches, this paper
proposes to take into account what’s “difficult”. Not as a challenge neither as an obstacle, but as a
constitutive part of both history and education. To think about it, to understand it, and to teach it are
inherent processes to the pedagogy. And the “difficult” can not be avoided, unless we close our eyes
or we deliberately ignore it. Although the academic uses have struggled to be at the core of the
power, and are used to the vehement speeches, the fact is that both the universities and their
teachings live in their margins. Once consciousness about it is reached, hiding yourself behind
distorted words is no longer an option. Although how much “difficult” it might be, what’s complex,
what’s ugly, what’s hidden, and what’s beautiful too, they need to be taught. We need to be aware
that the methodology, the epistemology, the ethics, politics and knowledge, they constitute a whole.
And in the educational investigation to
Protein Supplementation with Short Peptides Prevents Early Muscle Mass Loss after Roux-en-Y-Gastric Bypass
Introduction: A significant reduction in fat-free mass (FFM) following bariatric surgery
(BS) has been reported, and adequate protein intake is recommended for FFM preservation. Current
guidelines of nutritional management after BS recommend complex protein (CP) compounds. However,
Roux-en-Y-gastric bypass (RYGB) has a negative impact on CP digestion, leading to protein
malabsorption. At present, there is no data regarding the impact of early supplementation with short
peptide-based (SPB) or hydroxy methylbutyrate (HMB)-enriched formulas on the evolution of the
FFM after the BS. Aim: The aim of this study is to evaluate the effect of nutritional products based
on CP, HBM-enriched, or SPB formulas on the FFM of patients that undergo RYGB. Material and
methods: This is a prospective interventional study, including three groups of patients (according
to the type of protein product) as candidates for BS, recruited between December 2021 and April
2022, matched by age, gender, and BMI. All patients underwent evaluations at baseline and one
month post-BS, including: medical history, physical and anthropometric evaluation, bioimpedance,
and biochemical analysis. Results: A total of 60 patients were recruited: 63% women, mean age
43.13 9.4 years, and BMI 43.57 4.1 kg/m2. The % of FFM loss from total weight loss (TWL)
was significantly lower in the SPB group than CP and HMB groups despite the major %TWL in this
group (40.60 17.27 in CP, 34.57 13.15 in HMB, and 19.14 9.38 in SPB, p < 0.001). TWL% was
9.98 1.82 vs. 9.83 2.71 vs. 13.56 4.30, p < 0.001, respectively. Conclusion: In our study, the
SPB supplementation prevented almost 50% FFM lost from the TWL than the CP- or HMB-enriched
compounds at one month post-BS. These results are significant in the setting of muscle mass preservation
after the BS, and have the potential to change the current guidelines for the management of
nutritional supplementation after BS
Una ciudad amigable con las personas con demencia y sus cuidadores. Proyecto Vic: Cultura y Alzheimer
La demencia tiene una evolución crónica y progresiva que puede generar dependencia para
la realización de actividades de la vida diaria (OMSa, 2021). La enfermedad de Alzheimer (EA) es una de
sus expresiones más comunes (OMSa, 2020), la cual limita algunas oportunidades de participación en
ocupaciones significativas (privación ocupacional). Este artículo describe el proyecto Vic: Cultura y Alzheimer,
el cual ha conseguido que todos los dispositivos de cultura y arte de la ciudad estén a disposición de las
personas con demencia, sus familiares y cuidadores, convirtiéndola en una ciudad inclusiva y amigable para
las personas con demencia. La investigación desde un enfoque cualitativo buscó comprender la percepción
de utilidad por parte de los participantes y el impacto a nivel de bienestar y participación social. Fue un
diálogo polifónico entre los participantes e instituciones de cultura y asistenciales, junto al Ayuntamiento y
la Universidad. Los principales resultados son la percepción del impacto positivo en el bienestar cognitivo y
emocional de los usuarios y en su participación social. Se destaca su carácter de innovación e impacto en la
comunidad. Se reconocen el arte y la cultura como herramientas con poder para movilizar a toda una ciudad
en pro de la inclusión, bienestar y la no estigmatización de las personas con EA.Dementia has a progressive and chronic evolution that will generate a dependency to carry
out activities of daily living (WHO, 2021). Alzheimer’s disease (AD) is the most common way in which it is
expressed (WHO, 2020) and has limitations in the opportunities to participate in significant occupations
(occupational deprivation). This article describes the project Vic: Culture and Alzheimer, which has made all
the cultural and art centers in the city of Vic available to people with dementia, their families, and caregivers,
making it an inclusive and friendly city for people with dementia. This project developed qualitative research
to understand the perception of utility by the participants and the impact at the level of well-being and social
participation. The research was a polyphonic dialogue between participants and the cultural and welfare
institutions of the city, together with the City Council and the University. The main results were the perception
of the positive impact on the cognitive and emotional well-being of the users and on their social participation.
Its character of innovation and impact on the community was highlighted. Finally, it is recognized that art and
culture are powerful tools to mobilize an entire city in favor of the inclusion, well-being and non-stigmatization
of people with AD