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1.
PLoS Genet ; 20(1): e1010850, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38175823

RESUMO

Inherited and germ-line de novo copy number variants (CNVs) are increasingly found to be correlated with human developmental and cancerous phenotypes. Several models for template switching during replication have been proposed to explain the generation of these gross chromosomal rearrangements. We proposed a model of template switching (ODIRA-origin dependent inverted repeat amplification) in which simultaneous ligation of the leading and lagging strands at diverging replication forks could generate segmental inverted triplications through an extrachromosomal inverted circular intermediate. Here, we created a genetic assay using split-ura3 cassettes to trap the proposed inverted intermediate. However, instead of recovering circular inverted intermediates, we found inverted linear chromosomal fragments ending in native telomeres-suggesting that a template switch had occurred at the centromere-proximal fork of a replication bubble. As telomeric inverted hairpin fragments can also be created through double strand breaks we tested whether replication errors or repair of double stranded DNA breaks were the most likely initiating event. The results from CRISPR/Cas9 cleavage experiments and growth in the replication inhibitor hydroxyurea indicate that it is a replication error, not a double stranded break that creates the inverted junctions. Since inverted amplicons of the SUL1 gene occur during long-term growth in sulfate-limited chemostats, we sequenced evolved populations to look for evidence of linear intermediates formed by an error in replication. All of the data are compatible with a two-step version of the ODIRA model in which sequential template switching at short inverted repeats between the leading and lagging strands at a replication fork, followed by integration via homologous recombination, generates inverted interstitial triplications.


Assuntos
Variações do Número de Cópias de DNA , Replicação do DNA , Humanos , Replicação do DNA/genética , Variações do Número de Cópias de DNA/genética , Aberrações Cromossômicas , Quebras de DNA de Cadeia Dupla , DNA
2.
Gac Med Mex ; 159(4): 302-314, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37699209

RESUMO

BACKGROUND: In countries where the consumption of mushrooms is common, hundreds of mushroom poisonings occur every year, which represents a public health problem. In Mexico, mushroom poisoning is classified as a non-bacterial gastrointestinal poisoning, which prevents timely care. OBJECTIVE: To create a free-access platform that synthesizes and standardizes the information on mycetism cases and offers tools for diagnosis and timely treatment. MATERIAL AND METHODS: In locations where cases of mycetism have occurred, information was obtained on the fungi involved, the poisonings that occurred, care protocols, and sample processing. RESULTS: Records were generated that synthesize and describe the types of mycetism with the highest probability of occurrence in Mexico. Therein, the biological characteristics of fungi, the symptoms they cause and their treatment are described. A protocol proposal for patient care and for the processing of biological samples is presented. Finally, a form is included to collect information on cases of poisoning. CONCLUSIONS: Systematized and analyzed information on mycetism allows to simplify its diagnosis, attention and treatment. The protocols for clinical care and sample processing are the basis for generating strategies that prevent deaths due to mycetism.


ANTECEDENTES: En países donde el consumo de hongos es frecuente ocurren cientos de casos de micetismos al año, por lo que representan un problema de salud pública. En México, los micetismos son clasificados como una intoxicación gastrointestinal de tipo no bacteriano, lo que impide su atención oportuna. OBJETIVO: Crear una plataforma de libre acceso que sintetice y estandarice la información de los casos de micetismos y ofrezca herramientas para su diagnóstico y tratamiento oportuno. MATERIAL Y MÉTODOS: En localidades donde han ocurrido casos de micetismos se obtuvo información sobre los hongos involucrados, las intoxicaciones ocurridas, protocolos de atención y procesamiento de muestras. RESULTADOS: Se generaron cédulas que sintetizan y describen las intoxicaciones por hongos con mayor probabilidad de ocurrencia en México. En ellas se describen las características biológicas de los hongos, síntomas que provocan y su tratamiento. Se presenta una propuesta de protocolo para la atención del paciente y para el procesamiento de muestras biológicas. Por último, se incluye un formulario para recopilar información sobre los casos de intoxicaciones. CONCLUSIONES: La información sistematizada y analizada sobre los micetismos permite simplificar su diagnóstico, atención y tratamiento. Los protocolos para la atención clínica y el procesamiento de muestras son la base para generar estrategias que eviten decesos por micetismo.


Assuntos
Intoxicação Alimentar por Cogumelos , Humanos , Intoxicação Alimentar por Cogumelos/diagnóstico , Intoxicação Alimentar por Cogumelos/epidemiologia , Intoxicação Alimentar por Cogumelos/terapia , México/epidemiologia , América Central/epidemiologia , Saúde Pública
3.
Artigo em Inglês | MEDLINE | ID: mdl-37648954

RESUMO

Post-COVID syndrome has been defined as signs and symptoms that develop after an infection consistent with COVID-19 and continue for more than 12 weeks, including neurocognitive signs and symptoms that have an impact on the functioning and quality of life of middle-aged adult and older survivors. This systematic review describes the current knowledge of long-term cognitive impairments in COVID-19 survivors, approaches strategies, and their impact on public and private health services worldwide. The systematic review was conducted under the criteria and flowchart established in the PRISMA statement, considering studies from the PubMed, Scopus, and Web of Science databases between 2020 and 2023. The included studies considered participants over 40 years of age, COVID-19 survivors. A total of 68 articles were included, most of which had high to excellent quality. The analysis showed the presence of heterogeneous cognitive symptoms in COVID survivors, persistent for at least 12 weeks from the onset of infection, mostly unsystematized and nonspecific approaches strategies, and a lack of methods for monitoring their effectiveness, with a significant economic and logistical impact on health systems. Specific protocols are required for the rehabilitation of persistent cognitive dysfunction in COVID-19 survivors, as well as longitudinal studies to evaluate the effectiveness of these interventions.

4.
Gac. méd. Méx ; 159(4): 309-321, jul.-ago. 2023. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1514131

RESUMO

Resumen Antecedentes: En países donde el consumo de hongos es frecuente ocurren cientos de casos de micetismos al año, por lo que representan un problema de salud pública. En México, los micetismos son clasificados como una intoxicación gastrointestinal de tipo no bacteriano, lo que impide su atención oportuna. Objetivo: Crear una plataforma de libre acceso que sintetice y estandarice la información de los casos de micetismos y ofrezca herramientas para su diagnóstico y tratamiento oportuno. Material y métodos: En localidades donde han ocurrido casos de micetismos se obtuvo información sobre los hongos involucrados, las intoxicaciones ocurridas, protocolos de atención y procesamiento de muestras. Resultados: Se generaron cédulas que sintetizan y describen las intoxicaciones por hongos con mayor probabilidad de ocurrencia en México. En ellas se describen las características biológicas de los hongos, síntomas que provocan y su tratamiento. Se presenta una propuesta de protocolo para la atención del paciente y para el procesamiento de muestras biológicas. Por último, se incluye un formulario para recopilar información sobre los casos de intoxicaciones. Conclusiones: La información sistematizada y analizada sobre los micetismos permite simplificar su diagnóstico, atención y tratamiento. Los protocolos para la atención clínica y el procesamiento de muestras son la base para generar estrategias que eviten decesos por micetismo.


Abstract Background: In countries where the consumption of mushrooms is common, hundreds of mushroom poisonings occur every year, which represents a public health problem. In Mexico, mushroom poisoning is classified as a non-bacterial gastrointestinal poisoning, which prevents timely care. Objective: To create a free-access platform that synthesizes and standardizes the information on mycetism cases and offers tools for diagnosis and timely treatment. Material and methods: In locations where cases of mycetism have occurred, information was obtained on the fungi involved, the poisonings that occurred, care protocols, and sample processing. Results: Infographics were generated that synthesize and describe the types of mycetism with the highest probability of occurrence in Mexico. Therein, the biological characteristics of fungi, the symptoms they cause and their treatment are described. A protocol proposal for patient care and for the processing of biological samples is presented. Finally, a form is included to collect information on cases of poisoning. Conclusions: Systematized and analyzed information on mycetism allows to simplify its diagnosis, attention and treatment. The protocols for clinical care and sample processing are the basis for generating strategies that prevent deaths due to mycetism.

5.
Methods Mol Biol ; 2638: 147-164, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36781640

RESUMO

Single Nucleotide Polymorphisms (SNPs) are the most common structural variants found in any genome. They have been used for different genetic studies, from the understanding of genetic structure of populations to the development of breeding selection markers. In this chapter we present the use of transcriptomic data obtained from contrasting phenotypes for a target trait, in searching of SNPs and insertions/deletions (InDels). This approach has the advantage that the identified markers are in or close to differentially expressed genes, and so they have higher chances to tag the genes underlying the phenotypic expression of a particular trait.


Assuntos
Polimorfismo de Nucleotídeo Único , Transcriptoma , Genótipo , Genoma , Mutação INDEL , Genoma de Planta
6.
Rev. med. Chile ; 150(6): 802-820, jun. 2022. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1424120

RESUMO

Risk and protective factors for cognitive impairment and mental health in older people are widely identified. However, the impact of COVID-19 pandemic on cognitive functioning and neuropsychiatric symptoms in older people is not well known. Therefore, we carried out a systematic review on the impact of COVID-19 pandemic on cognitive functioning and mental health of older people, identifying risk and protective factors. We used the criteria and flowchart established in PRISMA statement, considering studies from PubMed, Scopus and Web of Science databases between the years 2019 and 2021. The search fetched 55 final articles, where the analysis was carried out. The evidence suggests that the Covid 19 Pandemic had a direct and indirect impact on the cognitive function, mental and physical health of older people and variables such as resilience and personality characteristics moderated the consequences of this crisis.


Assuntos
Humanos , Idoso , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/epidemiologia , COVID-19 , Bases de Dados Factuais , Cognição , Pandemias
7.
Toxics ; 10(5)2022 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-35622677

RESUMO

Fine particulate matter (PM2.5) is dangerous to human health. At midnight on 31 December, in Ecuadorian cities, people burn puppets and fireworks, emitting high amounts of PM2.5. On 1 January 2022, concentrations between 27.3 and 40.6 µg m-3 (maximum mean over 24 h) were measured in Cuenca, an Andean city located in southern Ecuador; these are higher than 15 µg m-3, the current World Health Organization guideline. We estimated the corresponding PM2.5 emissions and used them as an input to the Weather Research and Forecasting with Chemistry (WRF-Chem 3.2) model to simulate the change in PM2.5 concentrations, assuming these emissions started at 18:00 LT or 21:00 LT on 31 December 2021. On average, PM2.5 concentrations decreased by 51.4% and 33.2%. Similar modeling exercises were completed for 2016 to 2021, providing mean decreases between 21.4% and 61.0% if emissions started at 18:00 LT. Lower mean reductions, between 2.3% and 40.7%, or even local increases, were computed for emissions beginning at 21:00 LT. Reductions occurred through better atmospheric conditions to disperse PM2.5 compared to midnight. Advancing the burning time can help reduce the health effects of PM2.5 emissions on 31 December.

8.
Rev Med Chil ; 150(6): 802-820, 2022 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-37906915

RESUMO

Risk and protective factors for cognitive impairment and mental health in older people are widely identified. However, the impact of COVID-19 pandemic on cognitive functioning and neuropsychiatric symptoms in older people is not well known. Therefore, we carried out a systematic review on the impact of COVID-19 pandemic on cognitive functioning and mental health of older people, identifying risk and protective factors. We used the criteria and flowchart established in PRISMA statement, considering studies from PubMed, Scopus and Web of Science databases between the years 2019 and 2021. The search fetched 55 final articles, where the analysis was carried out. The evidence suggests that the Covid 19 Pandemic had a direct and indirect impact on the cognitive function, mental and physical health of older people and variables such as resilience and personality characteristics moderated the consequences of this crisis.


Assuntos
COVID-19 , Disfunção Cognitiva , Humanos , Idoso , Pandemias , Cognição , Disfunção Cognitiva/epidemiologia , Disfunção Cognitiva/etiologia , Bases de Dados Factuais
9.
World Allergy Organ J ; 14(6): 100551, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34141051

RESUMO

BACKGROUND: Asthma affects up to 33% of children in Latin American settings. The ongoing COVID-19 pandemic has had a significant impact on access to and use of health services. We aimed to evaluate the impact of the COVID-19 lockdown on asthma exacerbations, medical facility visits, and use of asthma medications in children. METHODS: We used data from a prospective cohort of 213 children aged 5-17 years in 3 Ecuadorian cities and analysed the impact of the COVID-19 lockdown on asthma. Outcomes (asthma exacerbations, emergency room [ER] visits, planned and unplanned outpatient visits, and use of inhaled corticosteroids and Beta-2 agonists) were analysed using repeated Poisson counts (ie, number of events per participant before and during the COVID-19 lockdown). RESULTS: During compared to before lockdown: a) the number of asthma exacerbations remained constant (IRR, 0.87; 95% CI: 0.72-1.05; p = 0.152); b) outpatient visits (IRR 0.26, 95% CI 0.14-0.47, p < 0.001) declined 74% while ER visits declined 89% (IRR 0.11, 95% CI 0.04-0.32, p < 0.001); and c) there was no change in inhaled corticosteroids use (IRR 1.03, 95% CI 0.90-1.16, P = 0.699) while Beta-2 agonist use increased (IRR 1.32, 95% CI 1.10-1.58, P = 0.003). CONCLUSIONS: In a cohort of Ecuadorian children with asthma, health services attendance decreased dramatically after COVID-19 lockdown, but asthma exacerbations and use of inhaled corticosteroids were unchanged. Future analyses will address the question of the effect of SARS-CoV-2 infection on asthma exacerbations and control in this paediatric population.

10.
J Ethnobiol Ethnomed ; 17(1): 28, 2021 Apr 21.
Artigo em Inglês | MEDLINE | ID: mdl-33882997

RESUMO

INTRODUCTION: One of the main goals of ethnomycological studies has been understanding the role of wild edible mushrooms (WEM) in diverse cultures. To accomplish such a purpose, the local knowledge of WEM and their cultural importance have been evaluated and compared using qualitative and quantitative methods. However, few studies have documented these aspects in non-edible mushrooms, because they are considered to be in a category of residual cultural importance. To make up for this lack of investigation, this paper analyzes the traditional knowledge of non-edible mushrooms to understand their cultural role and break it down to its components. The analysis of this topic shows how this knowledge represents a good strategy to prevent mushroom intoxications in humans. METHODS: This study was carried out in two communities residing in La Malintzi National Park, Tlaxcala, Mexico. Mushroom species indicated as non-edible were collected during 13 ethnomycological expeditions and seven requests. To get an insight into the local knowledge about these mushrooms, we used ethnographic techniques, 91 free listings and 81 semi-structured interviews. RESULTS: In total, we collected 178 specimens of wild mushrooms recognized as non-edible by locals, which corresponded to 103 species belonging to 45 genera. People who participated in the study had a vast and deep understanding of non-edible mushrooms. For them, the most important species were Amanita muscaria, Neoboletus aff. erythropus, Xerocomellus chrysenteron, and Suillus tomentosus. Two uses were the most mentioned by respondents: as an insecticide and for medicinal purposes. Of note, however, is that A. muscaria was reported as edible years ago. To avoid possible intoxication, all non-edible mushrooms were included in the general category of "poisonous mushrooms." Non-edible species are seen as a cosmogonic counterpart ("twins") of the edible species that they resemble. We obtained 101 specific recognition criteria, useful only when comparing paired species: edible vs non-edible. The most culturally important non-edible groups were differentiated by clear and precise characteristics, which were reflected in the nomenclature and allowed their classification into specific ethnotaxa. CONCLUSIONS: We found that non-used resources can be the object of a deep traditional knowledge and have a vast cultural importance. In the case of wild non-edible mushrooms in particular: the species are named; they are the subject of vast traditional knowledge which is based on their edible/non-edible duality; this knowledge is widespread but has limited consensus, there is little lexical retention; and this knowledge is vital to avoid fatal intoxications. In consequence, both deadly species and species that share similarities with the most important edible mushrooms have a high cultural importance.


Assuntos
Agaricales , Conhecimento , Amanita , Basidiomycota , Humanos , México
11.
Nat Comput Sci ; 1(12): 830-842, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38217181

RESUMO

Pattern separation is a fundamental brain computation that converts small differences in input patterns into large differences in output patterns. Several synaptic mechanisms of pattern separation have been proposed, including code expansion, inhibition and plasticity; however, which of these mechanisms play a role in the entorhinal cortex (EC)-dentate gyrus (DG)-CA3 circuit, a classical pattern separation circuit, remains unclear. Here we show that a biologically realistic, full-scale EC-DG-CA3 circuit model, including granule cells (GCs) and parvalbumin-positive inhibitory interneurons (PV+-INs) in the DG, is an efficient pattern separator. Both external gamma-modulated inhibition and internal lateral inhibition mediated by PV+-INs substantially contributed to pattern separation. Both local connectivity and fast signaling at GC-PV+-IN synapses were important for maximum effectiveness. Similarly, mossy fiber synapses with conditional detonator properties contributed to pattern separation. By contrast, perforant path synapses with Hebbian synaptic plasticity and direct EC-CA3 connection shifted the network towards pattern completion. Our results demonstrate that the specific properties of cells and synapses optimize higher-order computations in biological networks and might be useful to improve the deep learning capabilities of technical networks.

12.
World Allergy Organ J ; 13(11): 100478, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33294112

RESUMO

BACKGROUND: Allergic diseases are under-investigated and overlooked health conditions in developing countries. We measured the prevalence of food allergy (FA), airborne allergic disease, and allergic sensitisation among adolescents living in 2 socio-demographically disparate regions in Ecuador. We investigated which risk factors are associated with these conditions. METHODS: A cross-sectional study involved 1338 students (mean age: 13 ± 0.9 years old) living in Cuenca (n = 876) and Santa Isabel (n = 462). History of allergic symptoms (noted by parents or doctor) to food, house dust mites (HDM), pollen, and pets were recorded. Sociodemographic characteristics, environmental exposures, and parental history of allergic disorders data were collected. Sensitisation to 19 food and 20 aeroallergens was measured by skin-prick testing (SPT). FA and airborne allergic diseases (to HDM, pollen, cat, or dog) were defined as a report of allergic symptoms noted by doctor, together with a positive SPT (wheal size ≥3 mm). Logistic regression models were used to identify environmental and parental factors associated with allergic conditions. RESULTS: FA was prevalent among 0.4% (95% CI 0.2%-0.9%), and food sensitisation among 19.1% of the adolescents. Shrimp was the most frequent food linked with FA and food sensitisation. Risk factors associated with FA could not be evaluated due to the low prevalence. Food sensitisation was higher among adolescents exposed to family smoking (OR 1.63, 95% CI 1.14-2.34, p = 0.008) and those with parental history of allergic disorders (OR 1.68, 95% CI 1.13-2.49, p = 0.01), but less common among adolescents owning dogs (OR 0.59, 95% CI 0.41-0.84, p = 0.003).Airborne allergic diseases were prevalent amongst 12.0% of the adolescents (95% CI: 10.4-13.9, n = 1321), with HDM as the primary allergen (11.2%). Airborne allergic diseases were less common among adolescents with more siblings (OR 0.79, 95% CI 0.65-0.96, p = 0.02) and those who lived with farm animals in the first year of life (OR 0.47, 95% CI 0.23-0.95, p = 0.04), but, most common among adolescents with a smoking family (OR 1.67, 95% CI 1.04-2.70, p = 0.03) and with a parental history of allergic disorders (OR self-perceived: 2.62, 95% CI 1.46-4.71, p = 0.001; OR diagnosed by a doctor: 4.07, 95% CI 2.44-6.80, p < 0.001). CONCLUSIONS: FA and airborne allergies are less prevalent in Ecuador than in developed regions; there is a great dissociation between the prevalence of allergic disease and allergic sensitisation. Shrimp and HDM were the most prevalent allergens. Risk factors identified in this study to be related to allergic diseases should be considered by physicians, health practitioners, and epidemiologists in Ecuador.

13.
Rev. peru. med. exp. salud publica ; 37(4): 711-715, oct.-dic. 2020. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1156823

RESUMO

RESUMEN Se analizó la presencia del gen mcr-1 en 165 enterobacterales productores de betalactamasas de espectro extendido (EP-BLEE) recuperados en 2017 de sangre (40), orina (57), secreciones respiratorias bajas (12) e hisopados rectales (56) de pacientes hospitalizados en el Instituto Nacional de Enfermedades Neoplásicas (Perú). La identificación y la susceptibilidad antimicrobiana se determinaron por el sistema automatizado Phoenix M50; la resistencia a colistina por Colistin Agar-Spot (CAS); la detección de mrc-1 por el método fenotípico de predifusión de colistina e inhibición con EDTA (CPD-E) y por reacción en cadena de la polimerasa (PCR, por sus siglas en inglés). De los 165 EP-BLEE 25 fueron positivos para mcr-1 por el método CPD-E y se confirmó por PCR. Por el método CAS, 20/165 fueron resistentes a colistina. Además, mostraron resistencia a las fluoroquinolonas y a la gentamicina, y permanecieron sensibles a la amikacina; dos aislamientos presentaron metalocarbapenemasas. La obtención de datos sobre la resistencia a antimicrobianos considerados de última línea (colistina) es crucial para establecer medidas para su control.


ABSTRACT We analyzed the presence of the mcr-1 gene in 165 extended-spectrum beta-lactamase-producing enterobacterales (ESBL-PE) obtained during 2017, from blood (40), urine (57), lower respiratory secretions (12) and rectal swabs (56) of patients hospitalized in the Instituto Nacional de Enfermedades Neoplásicas (Peru). Antimicrobial identification and susceptibility were determined by the Phoenix M50 automated system; colistin resistance by Colistin Agar-Spot (CAS); mrc-1 detection by colistin pre-diffusion and inhibition with EDTA test (CPD-E) and by polymerase chain reaction (PCR). We found that from the 165 ESBL-PE, 25 were positive for mcr-1 by the CPD-E method and confirmed by PCR. Colistin resistance was found in 20/165 by using the CAS method. Additionally, they showed resistance to fluoroquinolones and gentamicin, while remaining sensitive to amikacin; two isolates presented metallo-carbapenemases. Obtaining data on resistance to last-line antimicrobials (colistin) is crucial to establish measures for its control.


Assuntos
beta-Lactamases , Reação em Cadeia da Polimerase , Fluoroquinolonas , Pacientes , Urina , Resistência Microbiana a Medicamentos , Colistina , Enterobacteriaceae
15.
G3 (Bethesda) ; 10(10): 3585-3599, 2020 10 05.
Artigo em Inglês | MEDLINE | ID: mdl-32855169

RESUMO

Biological tube formation underlies organ development and, when disrupted, can cause severe birth defects. To investigate the genetic basis of tubulogenesis, we study the formation of Drosophila melanogaster eggshell structures, called dorsal appendages, which are produced by epithelial tubes. Previously we found that precise levels of Drosophila Chitinase-Like Proteins (CLPs), encoded by the Imaginal disc growth factor (Idgf) gene family, are needed to regulate dorsal-appendage tube closure and tube migration. To identify factors that act in the Idgf pathway, we developed a genetic modifier screen based on the finding that overexpressing Idgf3 causes dorsal appendage defects with ∼50% frequency. Using a library of partially overlapping heterozygous deficiencies, we scanned chromosome 3L and found regions that enhanced or suppressed the Idgf3-overexpression phenotype. Using smaller deletions, RNAi, and mutant alleles, we further mapped five regions and refined the interactions to 58 candidate genes. Importantly, mutant alleles identified combover(cmb), a substrate of Rho-kinase (Rok) and a component of the Planar Cell Polarity (PCP) pathway, as an Idgf3-interacting gene: loss of function enhanced while gain of function suppressed the dorsal appendage defects. Since PCP drives cell intercalation in other systems, we asked if cmb/+ affected cell intercalation in our model, but we found no evidence of its involvement in this step. Instead, we found that loss of cmb dominantly enhanced tube defects associated with Idgf3 overexpression by expanding the apical area of dorsal appendage cells. Apical surface area determines tube volume and shape; in this way, Idgf3 and cmb regulate tube morphology.


Assuntos
Proteínas de Drosophila , Drosophila , Animais , Proteínas de Drosophila/genética , Drosophila melanogaster/genética , Glicoproteínas , Discos Imaginais , Peptídeos e Proteínas de Sinalização Intercelular , Quinases Associadas a rho
16.
BMC Plant Biol ; 20(1): 365, 2020 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-32746778

RESUMO

BACKGROUND: Berry size is considered as one of the main selection criteria in table grapes breeding programs, due to the consumer preferences. However, berry size is a complex quantitive trait under polygenic control, and its genetic determination of berry weight is not yet fully understood. The aim of this work was to perform marker discovery using a transcriptomic approach, in order to identify and characterize SNP and InDel markers associated with berry size in table grapes. We used an integrative analysis based on RNA-Seq, SNP/InDel search and validation on table grape segregants and varieties with different genetic backgrounds. RESULTS: Thirty SNPs and eight InDels were identified using a transcriptomic approach (RNA-Seq). These markers were selected from SNP/InDel found among segregants from a Ruby x Sultanina population with contrasting phenotypes for berry size. The set of 38 SNP and InDel markers was distributed in eight chromosomes. Genotype-phenotype association analyses were performed using a set of 13 RxS segregants and 41 table grapes varieties with different genetic backgrounds during three seasons. The results showed several degrees of association of these markers with berry size (10.2 to 30.7%) as other berry-related traits such as length and width. The co-localization of SNP and /or InDel markers and previously reported QTLs and candidate genes associated with berry size were analysed. CONCLUSIONS: We identified a set of informative and transferable SNP and InDel markers associated with berry size. Our results suggest the suitability of SNPs and InDels as candidate markers for berry weight in seedless table grape breeding. The identification of genomic regions associated with berry weight in chromosomes 8, 15 and 17 was achieved with supporting evidence derived from a transcriptome experiment focused on SNP/InDel search, as well as from a QTL-linkage mapping approach. New regions possibly associated with berry weight in chromosomes 3, 6, 9 and 14 were identified.


Assuntos
Frutas/genética , Mutação INDEL , Polimorfismo de Nucleotídeo Único , Vitis/genética , Frutas/crescimento & desenvolvimento , Perfilação da Expressão Gênica , Marcadores Genéticos , Genótipo , Fenótipo , Locos de Características Quantitativas , RNA de Plantas , RNA-Seq , Vitis/crescimento & desenvolvimento
17.
PLoS One ; 15(7): e0234633, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32649729

RESUMO

BACKGROUND: Limited data are available on prevalence and associated risk factors for atopy and allergic diseases from high-altitude urban settings in Latin America. OBJECTIVE: To estimate the prevalence of atopy, asthma, rhinitis, and eczema, and associations with relevant risk factors in preschool children in the Andean city of Cuenca. METHODS: A cross-sectional study was undertaken using a representative sample of 535 children aged 3-5 years attending 30 nursery schools in the city of Cuenca, Ecuador. Data on allergic diseases and risk factors were collected by parental questionnaire. Atopy was measured by skin prick test (SPT) reactivity to a panel of relevant aeroallergens. Associations between risk factors and the prevalence of atopy and allergic diseases were estimated using multivariable logistic regression. RESULTS: Asthma symptoms were reported for 18% of children, rhinitis for 48%, and eczema for 28%, while SPT reactivity was present in 33%. Population fractions of asthma, rhinitis, and eczema attributable to SPT were 3.4%, 7.9%, and 2.9%, respectively. In multivariable models, an increased risk of asthma was observed among children with a maternal history of rhinitis (OR 1.85); rhinitis was significantly increased in children of high compared to low socioeconomic level (OR 2.09), among children with a maternal history of rhinitis (OR 2.29) or paternal history of eczema (OR 2.07), but reduced among children attending daycare (OR 0.64); eczema was associated with a paternal history of eczema (OR 3.73), and SPT was associated with having a dog inside the house (OR 1.67). CONCLUSIONS: A high prevalence of asthma, rhinitis, and eczema symptoms were observed among preschool children in a high-altitude Andean setting. Despite a high prevalence of atopy, only a small fraction of symptoms was associated with atopy. Parental history of allergic diseases was the most consistent risk factor for symptoms in preschool children.


Assuntos
Asma/epidemiologia , Eczema/epidemiologia , Rinite/epidemiologia , Alérgenos , Pré-Escolar , Estudos Transversais , Equador/epidemiologia , Feminino , Humanos , Hipersensibilidade/epidemiologia , Masculino , Prevalência , Fatores de Risco , Testes Cutâneos , Inquéritos e Questionários
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