ORCID Profile
0000-0002-9735-5152
Current Organisations
Washington University in St. Louis
,
Universidad Autónoma de Sinaloa
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Publisher: Instituto de Altos Estudios Dr. Arnoldo Gabaldon
Date: 2022
DOI: 10.52808/BMSA.7E6.626.033
Abstract: El deterioro del medio ambiente ha acelerado el cambio climático (CC) afectando mútiples escenarios, el aumento de la temperatura ha conllevado a la proliferación de ersas enfermedades trasmitidas por vectores de importancia a nivel de salud pública. Como objetivo, se propuso determinar la cultura ecosaludable ante el cambio climático en estudiantes del Área Ciencias de la Educación, Universidad Nacional Experimental Rómulo Gallegos (UNERG), Calabozo, Venezuela 2022. El estudio fue cuantitativo exploratorio no experimental de corte transversal con una muestra de 180 estudiantes. Para la recolección de datos se aplicó el Cuestionario de Dimensiones Ambientales (CDA) compuesto de 75 ítems distribuidos en tres dimensiones conocimientos, actitudes, emociones y comportamientos. El análisis de los datos fue por estadística descriptiva con porcentajes a través del programa Epidat 3.0. Como resultado, 63% indicó la importancia atribuida de los elementos de ecosalud afectados sobre el agua y 55% al calentamiento global. No obstante, solo 12% indicó la educación como un elemento de ecosalud afectado por el cambio climático, así mismo, en la dimensión de conocimientos se encontró 54,50% a CSN, 6,50% a CPR y 39,50% a CEA, en la dimensión de actitudes y emociones se encontró 55,50% a la subcategoria TD, 44,00% a CVA y 36,50% a E, finalmente, en la dimensión de comportamiento, se evidenció 36,50% a la subategoria de PC, 29,00% a IC y 20,00% a PI. Se debe evitar el daño ambiental a través del cambio de comportamiento in idual que debe ser enseñado desde los recintos universitarios.
Publisher: Wiley
Date: 25-06-2022
DOI: 10.1002/ANA.26429
Abstract: Autosomal‐dominant, Dutch‐type cerebral amyloid angiopathy (D‐CAA) offers a unique opportunity to develop biomarkers for pre‐symptomatic cerebral amyloid angiopathy (CAA). We hypothesized that neuroimaging measures of white matter injury would be present and progressive in D‐CAA prior to hemorrhagic lesions or symptomatic hemorrhage. In a longitudinal cohort of D‐CAA carriers and non‐carriers, we observed ergence of white matter injury measures between D‐CAA carriers and non‐carriers prior to the appearance of cerebral microbleeds and years before the average age of first symptomatic hemorrhage. These results indicate that white matter disruption measures may be valuable cross‐sectional and longitudinal biomarkers of D‐CAA progression. ANN NEUROL 2022 :358–363
Publisher: Springer Science and Business Media LLC
Date: 03-2020
Publisher: Elsevier BV
Date: 2020
Publisher: Cold Spring Harbor Laboratory
Date: 30-03-2022
DOI: 10.1101/2022.03.25.485799
Abstract: The Dominantly Inherited Alzheimer Network (DIAN) Observational Study is an international collaboration studying autosomal dominant Alzheimer disease (ADAD). This rare form of Alzheimer disease (AD) is caused by mutations in the presenilin 1 (PSEN1) , presenilin 2 (PSEN2) , or amyloid precursor protein ( APP ) genes. As in iduals from these families have a 50% chance of inheriting the familial mutation, this provides researchers with a well-matched cohort of carriers vs non-carriers for case-control studies. An important trait of ADAD is that the age at symptom onset is highly predictable and consistent for each specific mutation, allowing researchers to estimate an in idual’s point in their disease time course prior to symptom onset. Although ADAD represents only a small proportion (approximately 0.1%) of all AD cases, studying this form of AD allows researchers to investigate preclinical AD and the progression of changes that occur within the brain prior to AD symptom onset. Furthermore, the young age at symptom onset (typically 30-60 years) means age-related comorbidities are much less prevalent than in sporadic AD, thereby allowing AD pathophysiology to be studied independent of these confounds. A major goal of the DIAN Observational Study is to create a global resource for AD researchers. To that end, the current manuscript provides an overview of the DIAN magnetic resonance imaging (MRI) and positron emission tomography (PET) protocols and highlights the key imaging results of this study to date.
Publisher: Springer Science and Business Media LLC
Date: 10-07-2023
DOI: 10.1038/S41593-023-01359-8
Abstract: The Dominantly Inherited Alzheimer Network (DIAN) is an international collaboration studying autosomal dominant Alzheimer disease (ADAD). ADAD arises from mutations occurring in three genes. Offspring from ADAD families have a 50% chance of inheriting their familial mutation, so non-carrier siblings can be recruited for comparisons in case–control studies. The age of onset in ADAD is highly predictable within families, allowing researchers to estimate an in idual’s point in the disease trajectory. These characteristics allow candidate AD biomarker measurements to be reliably mapped during the preclinical phase. Although ADAD represents a small proportion of AD cases, understanding neuroimaging-based changes that occur during the preclinical period may provide insight into early disease stages of ‘sporadic’ AD also. Additionally, this study provides rich data for research in healthy aging through inclusion of the non-carrier controls. Here we introduce the neuroimaging dataset collected and describe how this resource can be used by a range of researchers.
Publisher: Wiley
Date: 22-02-2019
Publisher: Cold Spring Harbor Laboratory
Date: 13-07-2018
DOI: 10.1101/2023.07.04.547688
Abstract: The balance between production, clearance, and toxicity of Aβ peptides is central to Alzheimer’s disease (AD) pathobiology. Though highly variable in terms of age at symptom onset (AAO), hundreds of variants in PSEN1 cause autosomal dominant forms of AD (ADAD) with nearly complete penetrance. PSEN1 forms the catalytic core of the γ-secretase complex and thereby directly mediates the production of longer, aggregation-prone Aβ peptides relative to shorter, non-aggregating peptides. We hypothesized that the broad AAO and biomarker heterogeneity seen across ADAD would be predictable based on mutation-specific differences in the production of Aβ species. Aβ-37, 38, 40, 42, and 43 production was quantified from 161 unique PSEN1 variants expressed in HEK293 cells. Prediction of AAO was carried out in 106 variants with available AAO and then replicated in 55 variants represented across 190 PSEN1 mutation carriers who have detailed cognitive and biomarker data from the Dominantly Inherited Alzheimer’s Network (DIAN). Variations in Aβ production across the 161 mutations examined in cell-based models were highly predictive of AAO. In those with corresponding in vivo data from the DIAN study, our cell-based γ-secretase composite was strongly associated with biomarker and cognitive trajectories. These findings elucidate the critical link between γ-secretase function, Aβ production, and AD progression and offer mechanistic support for the amyloid hypothesis. The approach used here represents a powerful tool to account for heterogeneity in disease progression in ADAD clinical trials and to assess the pathogenicity of variants of unknown significance or with limited family history.
Publisher: Wiley
Date: 2021
DOI: 10.1002/DAD2.12197
Abstract: Asymptomatic and mildly symptomatic dominantly inherited Alzheimer's disease mutation carriers (DIAD‐MC) are ideal candidates for preventative treatment trials aimed at delaying or preventing dementia onset. Brain atrophy is an early feature of DIAD‐MC and could help predict risk for dementia during trial enrollment. We created a dementia risk score by entering standardized gray‐matter volumes from 231 DIAD‐MC into a logistic regression to classify participants with and without dementia. The score's predictive utility was assessed using Cox models and receiver operating curves on a separate group of 65 DIAD‐MC followed longitudinally. Our risk score separated asymptomatic versus demented DIAD‐MC with 96.4% (standard error = 0.02) and predicted conversion to dementia at next visit (hazard ratio = 1.32, 95% confidence interval [CI: 1.15, 1.49]) and within 2 years (area under the curve = 90.3%, 95% CI [82.3%–98.2%]) and improved prediction beyond established methods based on familial age of onset. In idualized risk scores based on brain atrophy could be useful for establishing enrollment criteria and stratifying DIAD‐MC participants for prevention trials.
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 23-03-2021
DOI: 10.1212/WNL.0000000000011542
Abstract: To investigate the inherent clinical risks associated with the presence of cerebral microhemorrhages (CMHs) or cerebral microbleeds and characterize in iduals at high risk for developing hemorrhagic amyloid-related imaging abnormality (ARIA-H), we longitudinally evaluated families with dominantly inherited Alzheimer disease (DIAD). Mutation carriers (n = 310) and noncarriers (n = 201) underwent neuroimaging, including gradient echo MRI sequences to detect CMHs, and neuropsychological and clinical assessments. Cross-sectional and longitudinal analyses evaluated relationships between CMHs and neuroimaging and clinical markers of disease. Three percent of noncarriers and 8% of carriers developed CMHs primarily located in lobar areas. Carriers with CMHs were older, had higher diastolic blood pressure and Hachinski ischemic scores, and more clinical, cognitive, and motor impairments than those without CMHs. APOE ε4 status was not associated with the prevalence or incidence of CMHs. Prevalent or incident CMHs predicted faster change in Clinical Dementia Rating although not composite cognitive measure, cortical thickness, hippoc al volume, or white matter lesions. Critically, the presence of 2 or more CMHs was associated with a significant risk for development of additional CMHs over time (8.95 ± 10.04 per year). Our study highlights factors associated with the development of CMHs in in iduals with DIAD. CMHs are a part of the underlying disease process in DIAD and are significantly associated with dementia. This highlights that in participants in treatment trials exposed to drugs, which carry the risk of ARIA-H as a complication, it may be challenging to separate natural incidence of CMHs from drug-related CMHs.
Publisher: Copernicus GmbH
Date: 18-08-2020
Abstract: Abstract. Results from the fully and biogeochemically coupled simulations in which CO2 increases at a rate of 1 % yr−1 (1pctCO2) from its preindustrial value are analyzed to quantify the magnitude of carbon–concentration and carbon–climate feedback parameters which measure the response of ocean and terrestrial carbon pools to changes in atmospheric CO2 concentration and the resulting change in global climate, respectively. The results are based on 11 comprehensive Earth system models from the most recent (sixth) Coupled Model Intercomparison Project (CMIP6) and compared with eight models from the fifth CMIP (CMIP5). The strength of the carbon–concentration feedback is of comparable magnitudes over land (mean ± standard deviation = 0.97 ± 0.40 PgC ppm−1) and ocean (0.79 ± 0.07 PgC ppm−1), while the carbon–climate feedback over land (−45.1 ± 50.6 PgC ∘C−1) is about 3 times larger than over ocean (−17.2 ± 5.0 PgC ∘C−1). The strength of both feedbacks is an order of magnitude more uncertain over land than over ocean as has been seen in existing studies. These values and their spread from 11 CMIP6 models have not changed significantly compared to CMIP5 models. The absolute values of feedback parameters are lower for land with models that include a representation of nitrogen cycle. The transient climate response to cumulative emissions (TCRE) from the 11 CMIP6 models considered here is 1.77 ± 0.37 ∘C EgC−1 and is similar to that found in CMIP5 models (1.63 ± 0.48 ∘C EgC−1) but with somewhat reduced model spread. The expressions for feedback parameters based on the fully and biogeochemically coupled configurations of the 1pctCO2 simulation are simplified when the small temperature change in the biogeochemically coupled simulation is ignored. Decomposition of the terms of these simplified expressions for the feedback parameters is used to gain insight into the reasons for differing responses among ocean and land carbon cycle models.
Publisher: Public Library of Science (PLoS)
Date: 24-03-2016
Location: United States of America
Location: United States of America
No related grants have been discovered for Nelly Joseph-Mathurin.