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1.
J Neurol ; 2024 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-38378908

RESUMO

BACKGROUND: Most neurological diseases have no curative treatment; therefore, focusing on prevention is key. Continuous research to uncover the protective and risk factors associated with different neurological diseases is crucial to successfully inform prevention strategies. eHealth has been showing promising advantages in healthcare and public health and may therefore be relevant to facilitate epidemiological studies. OBJECTIVE: In this study, we performed a Delphi consensus exercise to identify the key screening tests to inform the development of a digital neurological examination tool for epidemiological research. METHODS: Twelve panellists (six experts in neurological examination, five experts in data collection-two were also experts in the neurological examination, and three experts in participant experience) of different nationalities joined the Delphi exercise. Experts in the neurological examination provided a selection of items that allow ruling out neurological impairment and can be performed by trained health workers. The items were then rated by them and other experts in terms of their feasibility and acceptability. RESULTS: Ten tests and seven anamnestic questions were included in the final set of screening items for the digital neurological examination. Three tests and five anamnestic questions were excluded from the final selection due to their low ratings on feasibility. CONCLUSION: This work identifies the key feasible and acceptable screening tests and anamnestic questions to build an electronic tool for performing the neurological examination, in the absence of a neurologist.

2.
Infant Behav Dev ; 73: 101895, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37856950

RESUMO

There is compelling evidence that the quality of caregiver-child interactions during toddlerhood and the preschool years supports the development of executive function (EF) (Bernier et al., 2010; 2015; 2016; Fay-Stammbach et al., 2014; Geeraerts et al., 2021). Based on such findings, we make the case herein that sensitivity may be one of the most important dimensions of parenting contributing to early EF. In the present article, we will review empirical evidence, integrating findings from a wide range of scientific disciplines - cognitive psychology, neuroscience, and developmental psychopathology - and present theoretical ideas about how two contexts of sensitive caregiving - i.e. sensitivity to distress and non-distress cues - may be contributing differently to hot and cool EF development. Implications for future investigations on the environmental contributors of early EF, and its mechanisms, are discussed.


Assuntos
Função Executiva , Poder Familiar , Humanos , Pré-Escolar , Sinais (Psicologia)
3.
PLoS One ; 18(9): e0291264, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37682925

RESUMO

In coffee (Coffea arabica L.), male sterility is a prerequisite for the exploitation of heterosis since it provides an efficient and reliable method for the production of hybrid seeds. Given its relevance, the objective of this study was to identify male-sterile genotypes within the Colombian Coffee Collection that can be used in genetic improvement. For this purpose, Ethiopian germplasm and progenies derived from hybrids between C. arabica x C. canephora were explored between 2017 and 2021. In the first stage, genotypes without visual presence of pollen were preselected in the field, followed by selection through staining and verification of male sterility and female fertility through directed crosses (directed, reciprocal and selfing). In this stage, 9,753 trees were explored, preselecting 2.4% due to visual absence of pollen. The staining of structures allowed us to confirm the lack or sporadic production of pollen in 23 individuals of Ethiopian origin. The results of the directed crosses led to the identification of 11 male-sterile and 12 partially male-sterile genotypes belonging to 15 accessions. In all cases, the individuals were characterized by the presence of anthers but with an absence or low content of pollen, which is why the male sterility is possibly of the sporogenic type. The female receptivity values were between 2.9% and 72.6%, being higher than 30% in five genotypes. These genotypes are a valuable tool for the genetic improvement of C. arabica with the potential to facilitate the use of heterosis and to allow a deeper understanding the development of male gametophytes in the species.


Assuntos
Coffea , Infertilidade Masculina , Rubiaceae , Humanos , Masculino , Coffea/genética , Café , Colômbia
4.
Plants (Basel) ; 12(18)2023 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-37765495

RESUMO

The phenological patterns of coffee flowering in Colombia have typically been studied in a descriptive way, with knowledge from an inferential perspective being scarce. The present study evaluated the effect of geographic location and accession on the floral patterns and phenological descriptors of Coffea arabica L. Fifteen accessions from the Colombian coffee collection (four tall and eleven short) were planted in the departments of Cesar, Caldas, Quindío and Cauca (Colombia). The number of flower buds per branch per plant per evaluated accession was recorded weekly during four flowering semesters. Subsequently, the phenological flowering descriptors, namely synchrony among individuals, intraindividual temporal variability and number of events were calculated. The data were analyzed descriptively, and then the inferential component was conducted using analysis of variance for a two-factor additive model and randomization restriction. The results showed that there are two flowering patterns according to the expression of flowering in the floral cycles, the "annual" class in the department of Cesar and the "continual" class in the departments of Caldas, Quindío and Cauca. The phenological descriptors show differences between the departments according to the coffee zone to which it belongs (northern, central or southern). In turn, the floral pattern of each area can be linked to the latitudinal change in daily sunshine, as well as to the distribution of rainfall and temperature, in a very broad sense and based on the literature. The data did not provide statistical evidence to suggest differences among the accessions or between the tree sizes evaluated.

5.
J Alzheimers Dis ; 95(3): 1091-1106, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37638430

RESUMO

BACKGROUND: The SARS-CoV2 global pandemic impacted participants in the Alzheimer's Prevention Initiative (API) Autosomal Dominant Alzheimer's Disease (ADAD) clinical trial, who faced three stressors: 1) fear of developing dementia; 2) concerns about missing treatment; and 3) risk of SARS-CoV2 infection. OBJECTIVE: To describe the frequency of psychological disorders among the participants of the API ADAD Colombia clinical study, treated by a holistic mental health team during the COVID-19 pandemic. The extent of use of mental health team services was explored considering different risk factors, and users and non-users of these services were compared. METHODS: Participants had free and optional access to psychology and psychiatry services, outside of the study protocol. Descriptive statistics was used to analyze the frequency of the mental health difficulties. A multivariable logistic regression model has been used to assess associations with using this program. RESULTS: 66 participants were treated by the Mental Health Team from March 1, 2020, to December 31, 2020. Before and after the start of the pandemic, the most common psychological problems were anxiety (36.4% before, 63.6% after) and depression (34.8% before, 37.9% after). 70% of users assisted by psychology and 81.6% of those assisted by psychiatry felt that the services were useful for them. Female sex, depression, and anxiety before the pandemic were positively associated with being assisted by either psychology or psychiatry, while the association with hyperlipidemia was negative. CONCLUSIONS: A holistic mental health program, carried out in the context of a study, could mitigate psychopathology during pandemics such as COVID-19.


Assuntos
Doença de Alzheimer , COVID-19 , Humanos , Feminino , Doença de Alzheimer/epidemiologia , Doença de Alzheimer/prevenção & controle , Doença de Alzheimer/psicologia , SARS-CoV-2 , Pandemias , Colômbia/epidemiologia , RNA Viral , Ansiedade/epidemiologia , Depressão
6.
Front Neurol ; 14: 1198869, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37497015

RESUMO

Alzheimer's disease (AD) represents a substantial burden to patients, their caregivers, health systems, and society in Latin America and the Caribbean (LAC). This impact is exacerbated by limited access to diagnosis, specialized care, and therapies for AD within and among nations. The region has varied geographic, ethnic, cultural, and economic conditions, which create unique challenges to AD diagnosis and management. To address these issues, the Americas Health Foundation convened a panel of eight neurologists, geriatricians, and psychiatrists from Argentina, Brazil, Colombia, Ecuador, Guatemala, Mexico, and Peru who are experts in AD for a three-day virtual meeting to discuss best practices for AD diagnosis and treatment in LAC and create a manuscript offering recommendations to address identified barriers. In LAC, several barriers hamper diagnosing and treating people with dementia. These barriers include access to healthcare, fragmented healthcare systems, limited research funding, unstandardized diagnosis and treatment, genetic heterogeneity, and varying social determinants of health. Additional training for physicians and other healthcare workers at the primary care level, region-specific or adequately adapted cognitive tests, increased public healthcare insurance coverage of testing and treatment, and dedicated search strategies to detect populations with gene variants associated with AD are among the recommendations to improve the landscape of AD.

8.
Nat Commun ; 14(1): 1152, 2023 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-36859518
9.
Child Indic Res ; 16(1): 69-85, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36035772

RESUMO

The COVID-19 pandemic has led to significant changes in the lives of families with young children. The present study aimed to explore whether child social isolation due to the COVID-19 crisis was associated with toddlers' emotional and behavioral health (EBH) and whether this association was moderated by caregiving distress, during the second mandatory lockdown in Portugal. Participants included 315 toddlers and their primary caregivers. Caregivers were invited to complete a set of questionnaires in order to report about toddlers' social isolation from other significant family members, other children, and activities outside the house, and to provide ratings of caregiving distress and toddlers' EBH. Family socioeconomic factors, including stressors resulted from the pandemic, were also measured. Significant interaction effects, independent of child sex and sociodemographic factors, between COVID-19-related social isolation and caregiving distress emerged in the prediction of toddlers' EBH: COVID-19-related social isolation was found to be a significant predictor of both emotional/behavioral competencies and problems, but only among toddlers exposed to higher levels of caregiving distress. This study evidences the negative impact of the COVID-19 crisis on the functioning of Portuguese families and toddlers' EBH. It emphasizes the importance for policies to consider the implications of the COVID-19 crisis for young children, and to provide psychosocial support to families in order to reduce caregiving distress and, thus, prevent children's mental health problems.

10.
J Child Adolesc Trauma ; 15(3): 627-637, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35958709

RESUMO

The UCLA PTSD Reaction Index for DSM-5 (RI-5) is a developmentally appropriate and well recognized screening tool for the assessment of Post-Traumatic Stress Disorder (PTSD) in children and adolescents. The children/adolescent self-report version of the RI-5 has been thoroughly studied in very recent years, showing adequate psychometric properties. Despite such results, the utility of the parent/caregiver-report version, which also integrates the RI-5 system, remains to be explored. As such, the present study aimed to test the general psychometric properties of the parent/caregiver-report version of RI-5, based on a sample of 457 children and adolescents, aged between 7 and 17 years, exposed to at least one potentially traumatic experience, and their respective primary caregivers. The RI-5 total score and categories revealed good internal consistency reliability. The total number of traumas reported emerged as a significant predictor of the RI-5 total score. The RI-5 total score proved to be significantly correlated with more internalizing and externalizing problems, but correlation coefficients were below .70, serving as an indicator of discriminant validity. The four-factor structure of the RI-5 was supported through confirmatory factor analysis. In conclusion, the present study provided preliminary evidence supporting the utility of the parent/caregiver-report version of the RI-5 for research purposes and for clinical assessment and treatment, anchored on a multiple informant perspective of child psychopathology.

11.
Rev. latinoam. cienc. soc. niñez juv ; 20(2): 421-442, mayo-ago. 2022.
Artigo em Espanhol | LILACS | ID: biblio-1409611

RESUMO

Resumen (analítico) Se abordan los ajustes que hicieron estudiantes de psicología en su vida cotidiana para continuar con sus clases en línea. Desde un enfoque de psicología cultural y una investigación de corte cualitativo, se analizan los significados que las y los estudiantes plasmaron en cuestionarios abiertos respondidos en línea. Los resultados muestran el trabajo de reelaboración práctico y simbólico que realizaron las y los participantes para redefinir qué significa ser estudiante en tiempos de pandemia. Se exponen las emociones que tuvieron, las estrategias empleadas para responder a las clases en línea y las experiencias con el servicio de psicología brindado a adolescentes de secundaria. Concluimos que durante la pandemia por covid-19 las clases en línea implicaron para las y los estudiantes retos nuevos en el reacomodo de sus vidas cotidianas.


Abstract (analytical) The paper addresses the adjustments made by psychology students in their daily lives to continue with their online classes. From a cultural psychology approach and a qualitative research approach, we analyze the meanings that students expressed in open questionnaires answered online. The results show the practical and symbolic elaboration work carried out by the participants to redefine what it means to be a student in times of pandemic. The emotions they had, the strategies used to respond to the online classes, and the experiences with the psychology service provided to secondary school adolescents are presented. We conclude that during the COVID-19 pandemic, the online classes implied new challenges for the students in the rearrangement of their daily lives.


Resumo (analítico) O artigo aborda os ajustamentos que os estudantes de psicologia fizeram na sua vida quotidiana para continuar com as suas aulas online. A partir de uma abordagem psicológica cultural e de uma investigação qualitativa, analisamos os significados que os estudantes expressaram em questionários abertos respondidos em linha. Os resultados mostram o trabalho prático e simbólico de reelaboração realizado pelos participantes para redefinir o que significa ser um estudante em tempos de pandemia. São apresentadas as emoções que tinham, as estratégias utilizadas para responder às aulas em linha e as experiências com o serviço de psicologia prestado aos adolescentes do ensino secundário. Concluímos que durante a pandemia de Covid-19, as aulas em linha proporcionaram aos estudantes novos desafios na reorganização da sua vida quotidiana.


Assuntos
Estudantes , Pesquisa Qualitativa , Emoções , Pandemias , COVID-19 , Adaptação Psicológica , Vida
12.
J Alzheimers Dis ; 85(4): 1423-1439, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34924385

RESUMO

BACKGROUND: Cigarette smoking is a known risk factor for Alzheimer's disease (AD). However, the association between neurodegeneration and other substances has not been fully determined. It is of vital importance to evaluate this relationship in populations at high risk of dementia. Since substance use possibly modifies the progression rate of cognitive decline, we studied this association in a unique and well-phenotyped cohort from the University of Antioquia: carriers of the PSEN1-E280A genetic variant. OBJECTIVE: To determine the association between substance use and cognitive decline in carriers of the PSEN1-E280A genetic variant. METHODS: A retrospective cohort study was conducted with 94 carriers and 69 noncarriers recruited between January 2019 and April 2020. A psychiatrist interviewed the participants using the Consumption of Alcohol, Cigarettes and other Substances questionnaire. The participants were also submitted to cognitive evaluation. The relationship between cognitive decline and substance use was explored through a mixed effects regression model. RESULTS: There was an association between cigarettes and better performance on tasks related to perceptual organization, verbal fluency, and memory in carriers. Alcohol had a positive or negative effect on memory according to the type of alcoholic beverage. Results on marijuana use were no conclusive. Coffee was associated with progressive improvements in executive function and verbal fluency. CONCLUSION: Cigarette and alcohol were associated with an improvement of some cognitive assessments, possibly by a survival bias. In addition, coffee was related to improvements in executive function and language; therefore, its short-term neuroprotective potential should be studied.


Assuntos
Doença de Alzheimer/genética , Disfunção Cognitiva/epidemiologia , Presenilina-1/genética , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Adulto , Consumo de Bebidas Alcoólicas/epidemiologia , Fumar Cigarros/epidemiologia , Colômbia/epidemiologia , Função Executiva , Feminino , Heterozigoto , Humanos , Masculino , Testes Neuropsicológicos/estatística & dados numéricos , Estudos Retrospectivos , Inquéritos e Questionários
14.
Alzheimers Res Ther ; 13(1): 27, 2021 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-33451357

RESUMO

BACKGROUND: Neuroimaging studies of autosomal dominant Alzheimer's disease (ADAD) enable characterization of the trajectories of cerebral amyloid-ß (Aß) and tau accumulation in the decades prior to clinical symptom onset. Longitudinal rates of regional tau accumulation measured with positron emission tomography (PET) and their relationship with other biomarker and cognitive changes remain to be fully characterized in ADAD. METHODS: Fourteen ADAD mutation carriers (Presenilin-1 E280A) and 15 age-matched non-carriers from the Colombian kindred underwent 2-3 sessions of Aß (11C-Pittsburgh compound B) and tau (18F-flortaucipir) PET, structural magnetic resonance imaging, and neuropsychological evaluation over a 2-4-year follow-up period. Annualized rates of change for imaging and cognitive variables were compared between carriers and non-carriers, and relationships among baseline measurements and rates of change were assessed within carriers. RESULTS: Longitudinal measurements were consistent with a sequence of ADAD-related changes beginning with Aß accumulation (16 years prior to expected symptom onset, EYO), followed by entorhinal cortex (EC) tau (9 EYO), neocortical tau (6 EYO), hippocampal atrophy (6 EYO), and cognitive decline (4 EYO). Rates of tau accumulation among carriers were most rapid in parietal neocortex (~ 9%/year). EC tau PET signal at baseline was a significant predictor of subsequent neocortical tau accumulation and cognitive decline within carriers. CONCLUSIONS: Our results are consistent with the sequence of biological changes in ADAD implied by cross-sectional studies and highlight the importance of EC tau as an early biomarker and a potential link between Aß burden and neocortical tau accumulation in ADAD.


Assuntos
Doença de Alzheimer , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/genética , Peptídeos beta-Amiloides , Biomarcadores , Boston , Colômbia , Estudos Transversais , Humanos , Imageamento por Ressonância Magnética , Tomografia por Emissão de Pósitrons , Proteínas tau/genética
15.
rev. udca actual. divulg. cient ; 23(2): e1456, jul.-dic. 2020. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1157039

RESUMO

RESUMEN En los últimos años, la demanda de productos saludables se ha venido incrementando, con lo cual, muchas investigaciones se han focalizado hacia la producción de alimentos y bebidas con potencial nutracéutico. El objetivo de este trabajo fue desarrollar una bebida energizante, a base de panela, jugo de maracuyá, cristales de aloe vera (AV), con propiedades antioxidantes. Se evaluó el contenido de compuestos fenólicos, ácido ascórbico y la capacidad antirradicalaria de las materias primas y las bebidas producidas. Se realizó un análisis sensorial, para verificar la aceptación del sabor, color, textura del AV y la aceptabilidad global de tres bebidas, seleccionadas de acuerdo con sus propiedades antioxidantes. Los resultados mostraron que la panela tenía el mayor contenido de compuestos fenólicos (59,4 ± 0,2mg AGE/g), mientras que el jugo de maracuyá, la mayor actividad antirradicalaria (657 ± 5µg eq AA/mL). Las bebidas analizadas dentro del diseño experimental variaron su actividad antioxidante, con la variación de los factores. De las tres bebidas seleccionadas, la bebida 2 presentó la mayor capacidad antirradicalaria (419 ± 1µg eq AA/mL) y contenido de vitamina C (15,75 ± 0,03µg/mL) y, además, un importante contenido de compuestos fenólicos (7,6 ± 2mg AGE/mL). Asimismo, los resultados del panel sensorial mostraron que la bebida 2 tenía una alta aceptabilidad global y una mayor aceptación del sabor, por lo cual, se puede concluir que esta bebida, es la que presenta mayor potencial antioxidante y comercial.


ABSTRACT In recent years, the demand for healthy products has been increasing, so much research has focused on the production of foods and beverages with nutraceutical potential. The aim of this work was to develop an energy drink, based on panela, passion fruit juice and aloe vera (AV) crystals with antioxidant properties. The content of phenolic compounds, ascorbic acid and the anti-radical capacity of the raw materials and beverages produced were evaluated. A sensory analysis was performed, to verify the acceptance of taste, color, AV texture and overall acceptability of three beverages, selected according to their antioxidant properties. The results showed that panela had the highest content of phenolic compounds (59.4 ± 0.2mg AGE/g), while passion fruit juice had the highest anti-radical activity (657 ± 5µg eq AA/mL). The beverages analyzed within the experimental design varied in their antioxidant activity with varying factors. Of the three drinks selected, drink 2 had the highest anti-radical capacity (419 ± 1µg AA eq/mL) and vitamin C content (15,75 ± 0,03µg/mL) and also a significant content of phenolic compounds (7,6 ± 2mg AGE/mL). Likewise, the results of the sensory panel showed that beverage 2 had a high overall acceptability and a greater acceptance of the taste, so it can be concluded that this drink is the one with the greatest antioxidant and commercial potential.

16.
Dement Neuropsychol ; 14(3): 223-236, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32973976

RESUMO

Alzheimer's disease (AD) and frontotemporal dementia (FTD) are neurodegenerative disorders that result in a significant burden to both patients and caregivers. By 2050, the number of people with dementia in Latin America will increase 4-fold. A deep understanding of the relevant genetic factors of AD and FTD is fundamental to tackle this reality through prevention. A review of different genetic variants that cause AD or FTD in Latin America was conducted. We searched Medline and PubMed databases using the keywords "Alzheimer's disease," "frontotemporal dementia," "mutation," "America," and "Latin America," besides specific Latin American countries. Forty-five items were chosen and analyzed. PSEN1 mutations are the commonest cause of genetic early-onset Alzheimer's disease (EOAD), followed by PSEN2 and APP mutations. Genetic FTD can be mainly explained by GRN and MAPT mutations, as well as C9orf72 G4C2 repeat expansion. APOE ε4 can modify the prevalence and incidence of late-onset Alzheimer's disease (LOAD), in addition to the cognitive performance in affected carriers.


A doença de Alzheimer (DA) e a demência frontotemporal (DFT) são distúrbios neurodegenerativos que causam uma sobrecarga significativa para pacientes e cuidadores. Em 2050, o número de pessoas com demência na América Latina aumentará 4 vezes. Uma compreensão profunda dos fatores genéticos relevantes da DA e da DFT é fundamental para enfrentar essa realidade por meio da prevenção. Foi realizada uma revisão de diferentes variantes genéticas que causam a DA ou a DFT na América Latina. Pesquisamos os bancos de dados Medline e PubMed usando as palavras-chave "doença de Alzheimer", "demência frontotemporal", "mutação", "América" e "América Latina", além de países latino-americanos específicos. Quarenta e cinco itens foram escolhidos e analisados. As mutações do PSEN1 são a causa mais comum da doença de Alzheimer genética de início precoce (DAIP), seguida pelas mutações do PSEN2 e da APP. A DFT genética pode ser explicada principalmente por mutações no GRN, MAPT e expansões repetidas da C9orf72 G4C2. O APOE ε4 pode modificar a prevalência e a incidência da doença de Alzheimer de início tardio (DAIT), mas também o desempenho cognitivo em portadores afetados.

17.
Dement. neuropsychol ; 14(3): 223-236, July-Sept. 2020. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1133644

RESUMO

ABSTRACT. Alzheimer's disease (AD) and frontotemporal dementia (FTD) are neurodegenerative disorders that result in a significant burden to both patients and caregivers. By 2050, the number of people with dementia in Latin America will increase 4-fold. A deep understanding of the relevant genetic factors of AD and FTD is fundamental to tackle this reality through prevention. A review of different genetic variants that cause AD or FTD in Latin America was conducted. We searched Medline and PubMed databases using the keywords "Alzheimer's disease," "frontotemporal dementia," "mutation," "America," and "Latin America," besides specific Latin American countries. Forty-five items were chosen and analyzed. PSEN1 mutations are the commonest cause of genetic early-onset Alzheimer's disease (EOAD), followed by PSEN2 and APP mutations. Genetic FTD can be mainly explained by GRN and MAPT mutations, as well as C9orf72 G4C2 repeat expansion. APOE ε4 can modify the prevalence and incidence of late-onset Alzheimer's disease (LOAD), in addition to the cognitive performance in affected carriers.


RESUMO. A doença de Alzheimer (DA) e a demência frontotemporal (DFT) são distúrbios neurodegenerativos que causam uma sobrecarga significativa para pacientes e cuidadores. Em 2050, o número de pessoas com demência na América Latina aumentará 4 vezes. Uma compreensão profunda dos fatores genéticos relevantes da DA e da DFT é fundamental para enfrentar essa realidade por meio da prevenção. Foi realizada uma revisão de diferentes variantes genéticas que causam a DA ou a DFT na América Latina. Pesquisamos os bancos de dados Medline e PubMed usando as palavras-chave "doença de Alzheimer", "demência frontotemporal", "mutação", "América" e "América Latina", além de países latino-americanos específicos. Quarenta e cinco itens foram escolhidos e analisados. As mutações do PSEN1 são a causa mais comum da doença de Alzheimer genética de início precoce (DAIP), seguida pelas mutações do PSEN2 e da APP. A DFT genética pode ser explicada principalmente por mutações no GRN, MAPT e expansões repetidas da C9orf72 G4C2. O APOE ε4 pode modificar a prevalência e a incidência da doença de Alzheimer de início tardio (DAIT), mas também o desempenho cognitivo em portadores afetados.


Assuntos
Humanos , Doença de Alzheimer , Demência Frontotemporal , Genética , América Latina
18.
PLoS Negl Trop Dis ; 14(3): e0007910, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32150562

RESUMO

Anthropogenic environmental alterations such as urbanization can threaten native populations as well as create novel environments that allow human pests and pathogens to thrive. As the number and size of urban environments increase globally, it is more important than ever to understand the dispersal dynamics of hosts, vectors and pathogens of zoonotic disease systems. For example, a protozoan parasite and the causative agent of Chagas disease in humans, Trypanosoma cruzi, recently colonized and spread through the city of Arequipa, Peru. We used population genomic and phylogenomic tools to analyze whole genomes of 123 T. cruzi isolates derived from vectors and non-human mammals throughout Arequipa to determine patterns of T. cruzi dispersal. The data show significant population genetic structure within city blocks-parasites in the same block tend to be very closely related-but no population structure among blocks within districts-parasites in neighboring blocks are no more closely related to one another than to parasites in distant districts. These data suggest that T. cruzi dispersal within a block occurs regularly and that occasional long-range dispersal events allow the establishment of new T. cruzi populations in distant blocks. Movement of domestic animals may be the primary mechanism of inter-block and inter-district T. cruzi dispersal.


Assuntos
Animais Domésticos/parasitologia , Doença de Chagas/epidemiologia , Doença de Chagas/parasitologia , Transmissão de Doença Infecciosa , Genótipo , Filogenia , Trypanosoma cruzi/isolamento & purificação , Animais , Doença de Chagas/transmissão , Vetores de Doenças , Humanos , Epidemiologia Molecular , Peru/epidemiologia , Trypanosoma cruzi/classificação , Trypanosoma cruzi/genética
19.
J Alzheimers Dis Rep ; 3(1): 241-250, 2019 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-31754656

RESUMO

BACKGROUND: There are forms of Alzheimer's disease (AD) that have an autosomal dominant inheritance pattern; one of them is caused by the E280A mutation in the gene that codes for Presenilin-1 (PSEN1). Studying families of people with this mutation allows the evaluation of characteristics of the subjects before cognitive decline begins. OBJECTIVE: To determine whether having the mutation E280A in PSEN1 increases the risk of presenting mental disorders in adults under 30 years old who are in the preclinical stage of AD and may be eligible for primary prevention studies of AD. METHODS: A psychiatric evaluation was made to 120 people belonging to families with a history of early onset AD. Of these, 62 carried the E280A mutation in PSEN1. The occurrence of mental disorders between carriers and non-carriers of the mutation was compared. RESULTS: No statistically significant differences were found in the frequency of any mental disorder between the group of carriers and non-carriers of the mutation (Hazard Ratio: 0.80, 95% CI 0.49 to 1.31); nor were differences observed when evaluating specific disorders. CONCLUSION: The E280A mutation does not increase the risk of mental disorders before the age of 30 in the relatives of people affected by familial AD. Studies with larger sample sizes are required to assess the risk of low incidence mental disorders.

20.
PLoS One ; 14(8): e0221678, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31454370

RESUMO

Changing environmental conditions, including those caused by human activities, reshape biological communities through both loss of native species and establishment of non-native species in the altered habitats. Dynamic interactions with the abiotic environment impact both immigration and initial establishment of non-native species into these altered habitats. The repeated emergence of disease systems in urban areas worldwide highlights the importance of understanding how dynamic migratory processes affect the current and future distribution and abundance of pathogens in urban environments. In this study, we examine the pattern of invasion of Trypanosoma cruzi-the causative agent of human Chagas disease-in the city of Arequipa, Peru. Phylogenetic analyses of 136 T. cruzi isolates from Arequipa and other South American locations suggest that only one T. cruzi lineage established a population in Arequipa as all T. cruzi isolated from vectors in Arequipa form a recent monophyletic group within the broader South American phylogeny. We discuss several hypotheses that may explain the limited number of established T. cruzi lineages despite multiple introductions of the parasite.


Assuntos
Doença de Chagas/parasitologia , Emigração e Imigração , Trypanosoma cruzi/fisiologia , Doença de Chagas/epidemiologia , Geografia , Humanos , Peru/epidemiologia , Filogenia , Polimorfismo de Nucleotídeo Único/genética
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