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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.
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.

3.
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
4.
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
5.
BMC Plant Biol ; 20(1): 66, 2020 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-32041534

RESUMO

BACKGROUND: Gibberellins (GA3) are the most sprayed growth regulator for table grape production worldwide, increasing berry size of seedless varieties through pericarp cell expansion. However, these treatments also exacerbate berry drop, which has a detrimental effect on the postharvest quality of commercialized clusters. Several studies have suggested that pedicel stiffening caused by GA3 would have a role in this disorder. Nevertheless, transcriptional and phenotypic information regarding pedicel responses to GA3 is minimal. RESULTS: Characterization of responses to GA3 treatments using the lines L23 and Thompson Seedless showed that the former was up to six times more susceptible to berry drop than the latter. GA3 also increased the diameter and dry matter percentage of the pedicel on both genotypes. Induction of lignin biosynthesis-related genes by GA3 has been reported, so the quantity of this polymer was measured. The acetyl bromide method detected a decreased concentration of lignin 7 days after GA3 treatment, due to a higher cell wall yield of the isolated fractions of GA3-treated pedicel samples which caused a dilution effect. Thus, an initial enrichment of primary cell wall components in response to GA3 was suggested, particularly in the L23 background. A transcriptomic profiling was performed to identify which genes were associated with these phenotypic changes. This analysis identified 1281 and 1787 genes differentially upregulated by GA3 in L23 and cv. Thompson Seedless, respectively. Concomitantly, 1202 and 1317 downregulated genes were detected in L23 and cv. Thompson Seedless (FDR < 0.05). Gene ontology analysis of upregulated genes showed enrichment in pathways including phenylpropanoids, cell wall metabolism, xylem development, photosynthesis and the cell cycle at 7 days post GA3 application. Twelve genes were characterized by qPCR and striking differences were observed between genotypes, mainly in genes related to cell wall synthesis. CONCLUSIONS: High levels of berry drop are related to an early strong response of primary cell wall synthesis in the pedicel promoted by GA3 treatment. Genetic backgrounds can produce similar phenotypic responses to GA3, although there is considerable variation in the regulation of genes in terms of which are expressed, and the extent of transcript levels achieved within the same time frame.


Assuntos
Frutas/crescimento & desenvolvimento , Genótipo , Giberelinas/metabolismo , Transcriptoma , Vitis/fisiologia , Agricultura/métodos , Parede Celular/metabolismo , Frutas/genética , Metabolismo Secundário , Vitis/genética , Vitis/crescimento & desenvolvimento
6.
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
7.
Heredity (Edinb) ; 121(2): 142-154, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29453424

RESUMO

Insect herbivory may drive evolution by selecting for trees with heritable resistance against defoliation. The spruce budworm (Choristoneura fumiferana, SBW) is a highly damaging forest insect pest that can affect population structure of white spruce (Picea glauca) in North America. Resistance against SBW was recently described in white spruce and was linked to three constitutive resistance biomarkers: the phenolic compounds piceol and pungenol, and expression of a beta-glucosidase encoding gene (Pgßglu-1). We investigated the phenotypic variability and heritability of these resistance biomarkers and of picein, the precursor of piceol, in the foliage of 874 trees belonging to 33 full-sib families and 71 clonal lines under evaluation in seven field locations in Eastern Canada. We aimed to (i) determine their genetic control, (ii) estimate the genetic and phenotypic correlations among defense biomarkers, and (iii) determine whether their constitutive levels are associated with detrimental trade-offs on growth. Quantitative genetics analyses indicated that all four traits are moderately to highly heritable. The full-sib and clonal analyses showed that additive and non-additive genetic effects play major and minor roles, respectively. Positive genetic and phenotypic correlations between resistance biomarkers and primary growth indicated that there is no trade-off between total height and height increment and resistance traits, contradicting the GDBH (Growth Differentiation Balance Hypothesis). Our findings about the predominant additive genetic basis of the resistance biomarkers show that adaptive evolution of white spruce natural populations to resist to SBW is possible and that potentially important gains could also be expected from artificial selection.


Assuntos
Biomarcadores/análise , Resistência à Doença/genética , Evolução Molecular , Interações Hospedeiro-Parasita/genética , Mariposas/patogenicidade , Picea/genética , Picea/parasitologia , Animais , Herbivoria , Picea/crescimento & desenvolvimento
8.
Molecules ; 23(4)2018 04 18.
Artigo em Inglês | MEDLINE | ID: mdl-29670040

RESUMO

Pectins are plant cell wall natural heteropolysaccharides composed mainly of α-1-4 d-galacturonic acid units, which may or may not be methyl esterified, possesses neutral sugars branching that harbor functional moieties. Physicochemical features as pH, temperature, ions concentration, and cosolute presence, affect directly the extraction yield and gelling capacity of pectins. The chemical and structural features of this polysaccharide enables its interaction with a wide range of molecules, a property that scientists profit from to form new composite matrices for target/controlled delivery of therapeutic molecules, genes or cells. Considered a prebiotic dietary fiber, pectins meetmany regulations easily, regarding health applications within the pharmaceutical industry as a raw material and as an agent for the prevention of cancer. Thus, this review lists many emergent pectin-based composite materials which will probably palliate the impact of obesity, diabetes and heart disease, aid to forestall actual epidemics, expand the ken of food additives and food products design.


Assuntos
Alimentos , Pectinas/química , Indústria Farmacêutica , Liberação Controlada de Fármacos , Pectinas/biossíntese
9.
Neurobiol Dis ; 86: 109-20, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26626079

RESUMO

The dystrophin-associated glycoprotein complex (DGC) that connects the cytoskeleton, plasma membrane and the extracellular matrix has been related to the maintenance and stabilization of channels and synaptic receptors, which are both essential for synaptogenesis and synaptic transmission. The dystrophin-deficient (mdx) mouse model of Duchenne muscular dystrophy (DMD) exhibits a significant reduction in hippocampal GABA efficacy, which may underlie the altered synaptic function and abnormal hippocampal long-term plasticity exhibited by mdx mice. Emerging studies have implicated Wnt signaling in the modulation of synaptic efficacy, neuronal plasticity and cognitive function. We report here that the activation of the non-canonical Wnt-5a pathway and Andrographolide, improves hippocampal mdx GABAergic efficacy by increasing the number of inhibitory synapses and GABA(A) receptors or GABA release. These results indicate that Wnt signaling modulates GABA synaptic efficacy and could be a promising novel target for DMD cognitive therapy.


Assuntos
Hipocampo/metabolismo , Hipocampo/fisiopatologia , Potenciais Pós-Sinápticos Inibidores , Distrofia Muscular de Duchenne/metabolismo , Distrofia Muscular de Duchenne/fisiopatologia , Neurônios/fisiologia , Via de Sinalização Wnt , Animais , Diterpenos/administração & dosagem , Hipocampo/efeitos dos fármacos , Potenciais Pós-Sinápticos Inibidores/efeitos dos fármacos , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos mdx , Neurônios/efeitos dos fármacos , Neurônios/metabolismo , Receptores de GABA-A/metabolismo , Via de Sinalização Wnt/efeitos dos fármacos
10.
BMC Plant Biol ; 16: 104, 2016 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-27118480

RESUMO

BACKGROUND: Berry size is considered as one of the main selection criteria in table grape breeding programs. However, this is a quantitative and polygenic trait, and its genetic determination is still poorly understood. Considering its economic importance, it is relevant to determine its genetic architecture and elucidate the mechanisms involved in its expression. To approach this issue, an RNA-Seq experiment based on Illumina platform was performed (14 libraries), including seedless segregants with contrasting phenotypes for berry weight at fruit setting (FST) and 6-8 mm berries (B68) phenological stages. RESULTS: A group of 526 differentially expressed (DE) genes were identified, by comparing seedless segregants with contrasting phenotypes for berry weight: 101 genes from the FST stage and 463 from the B68 stage. Also, we integrated differential expression, principal components analysis (PCA), correlations and network co-expression analyses to characterize the transcriptome profiling observed in segregants with contrasting phenotypes for berry weight. After this, 68 DE genes were selected as candidate genes, and seven candidate genes were validated by real time-PCR, confirming their expression profiles. CONCLUSIONS: We have carried out the first transcriptome analysis focused on table grape seedless segregants with contrasting phenotypes for berry weight. Our findings contributed to the understanding of the mechanisms involved in berry weight determination. Also, this comparative transcriptome profiling revealed candidate genes for berry weight which could be evaluated as selection tools in table grape breeding programs.


Assuntos
Frutas/genética , Perfilação da Expressão Gênica/métodos , Regulação da Expressão Gênica no Desenvolvimento , Regulação da Expressão Gênica de Plantas , Vitis/genética , Análise por Conglomerados , Frutas/crescimento & desenvolvimento , Frutas/fisiologia , Ontologia Genética , Genes de Plantas/genética , Genótipo , Fenótipo , Melhoramento Vegetal/métodos , Análise de Componente Principal , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Sementes/genética , Sementes/crescimento & desenvolvimento , Sementes/fisiologia , Análise de Sequência de RNA/métodos , Vitis/crescimento & desenvolvimento , Vitis/fisiologia
11.
Aust N Z J Obstet Gynaecol ; 56(4): 391-7, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27135639

RESUMO

BACKGROUND: There is no consensus on the relationship between depressive symptoms (DS) and pelvic organ prolapse (POP) symptoms and quality of life (QoL). Our hypothesis was that women with DS and POP have worse symptoms and QoL than those without DS and POP. AIM: Our aim was to compare two groups of POP patients, those with depressive symptoms and those without, and evaluate the association of symptoms and QoL. MATERIALS AND METHODS: This planned report is part of a prospective study evaluating the impact of pessary use among symptomatic POP patients. Patients were evaluated by POP quantification (POP-Q), pelvic ultrasound (US), voiding diaries, stress test, pad test, Pelvic Floor Distress Inventory (PFDI-20), Prolapse QoL (P-QoL) and the Goldberg Health Questionnaire (GHQ-12) (psychological health screening for DS when score ≥5). A sample size of 78 patients was required to demonstrate a 50-point difference in the global PFDI-20 score with 80% power and 95% probability. RESULTS: Ninety-one women with POP were included. GHQ-12 was positive in 47 (51.6%) patients. No differences were found in POP-Q, pad and stress test between those with a positive GHQ-12 and those without. However, GHQ-12 was associated with higher PFDI-20 scores and higher scores in seven of nine P-QoL domains. GHQ-12 persisted as an independent risk factor for worse P-QoL scores after multivariable analysis. CONCLUSION: A 'positive' screening for DS was associated with worse PFDI-20 and P-QoL scores despite no difference in objective measurements. It may be that depressed patients interpret their symptoms differently.


Assuntos
Depressão/etiologia , Distúrbios do Assoalho Pélvico/psicologia , Prolapso de Órgão Pélvico/psicologia , Qualidade de Vida , Inquéritos e Questionários , Idoso , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Prolapso de Órgão Pélvico/diagnóstico por imagem , Prolapso de Órgão Pélvico/fisiopatologia , Estudos Prospectivos , Ultrassonografia , Incontinência Urinária por Estresse/etiologia
12.
Int Urogynecol J ; 26(1): 123-30, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25224147

RESUMO

INTRODUCTION AND HYPOTHESIS: The Prolapse Quality of Life (P-QOL) questionnaire is a specific health-related quality of life (HRQL) instrument to assess the impact of POP on women. It has been validated in English-speaking women and to date has been translated into several other languages. However, currently there is no Spanish translation of the P-QOL questionnaire. The aim of this study was to translate the P-QOL questionnaire into Spanish and to assess its feasibility, validity, and reliability. METHODS: Following a forward- and back-translation of the original English P-QOL questionnaire into Spanish language, the translated questionnaire was reviewed by a group of patients as well as an expert panel to assess its comprehensibility. In this cross-sectional study women with POP symptoms were recruited from a tertiary referral teaching hospital. Women were defined as symptomatic if they report feeling a lump/bulge/pressure in the vagina. The Spanish translated P-QOL questionnaire was self-administered to all women. Reliability, content, and construct validity were evaluated using the Cronbach's alpha coefficient, ANOVA, and Spearman's correlation tests. RESULTS: One hundred and twenty-eight women were studied. There were no missing items. The Cronbach's alpha ranged from 0.626 to 0.866 across domains, demonstrating the good reliability of the Spanish P-QOL. The severity of symptoms was related to the worst quality of life, but the severity of POP was not related to poorer QoL. CONCLUSIONS: The Spanish translated version of the P-QOL is a reliable, consistent and valid instrument to assess symptom severity and QoL impact in Chilean women with POP.


Assuntos
Prolapso de Órgão Pélvico/psicologia , Adulto , Chile , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Prolapso de Órgão Pélvico/diagnóstico , Qualidade de Vida , Inquéritos e Questionários
13.
BMC Complement Altern Med ; 15: 254, 2015 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-26219933

RESUMO

BACKGROUND: Reactive Oxygen Species (ROS) impair the physiological functions of Retinal Pigment Epithelial (RPE) cells, which are known as one major cause of age-related macular degeneration and retinopathy diseases. The purpose of this study is to explore the cytoprotective effects of the antioxidant Bucida buceras extract in co-treatment with hydrogen peroxide (H2O2) delivery as a single addition or with continuous generation using glucose oxidase (GOx) in ARPE-19 cell cultures. The mechanism of Bucida buceras extract is believed to be associated with their antioxidant capacity to protect cells against oxidative stress. METHODS: A comparative oxidative stress H2O2-induced was performed by addition and enzymatic generation using glucose oxidase on human retinal pigment epithelial cells line. H2O2-induced injury was measured by toxic effects (cell death and apoptotic pathway) and intracellular redox status: glutathione (GSH), antioxidant enzymes (catalase and glutathione peroxidase) and reducing power (FRAP). The retino-protective effect of co-treatment with Bucida buceras extract on H2O2-induced human RPE cell injury was investigated by cell death (MTT assay) and oxidative stress biomarkers (H2O2, GSH, CAT, GPx and FRAP). RESULTS: Bucida buceras L. extract is believed to be associated with the ability to prevent cellular oxidative stress. When added as a pulse, H2O2 is rapidly depleted and the cytotoxicity analyses show that cells can tolerate short exposure to high peroxide doses delivered as a pulse but are susceptible to lower chronic doses. Co-treatment with Bucida buceras was able to protect the cells against H2O2-induced injury. In addition to preventing cell death treatment with antioxidant plant could also reverse the significant decrease in GSH level, catalase activity and reducing power caused by H2O2. CONCLUSION: These findings suggest that Bucida buceras could protect RPE against ocular pathogenesis associated with oxidative stress induced by H2O2-delivered by addition and enzymatic generation.


Assuntos
Antioxidantes , Combretaceae/química , Estresse Oxidativo/efeitos dos fármacos , Extratos Vegetais , Epitélio Pigmentado da Retina/citologia , Antioxidantes/química , Antioxidantes/farmacologia , Linhagem Celular , Humanos , Peróxido de Hidrogênio/toxicidade , Oxirredutases/metabolismo , Extratos Vegetais/química , Extratos Vegetais/farmacologia
15.
BMC Plant Biol ; 14: 7, 2014 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-24397443

RESUMO

BACKGROUND: Grapevine (Vitis vinifera L.) is the most important Mediterranean fruit crop, used to produce both wine and spirits as well as table grape and raisins. Wine and table grape cultivars represent two divergent germplasm pools with different origins and domestication history, as well as differential characteristics for berry size, cluster architecture and berry chemical profile, among others. 'Sultanina' plays a pivotal role in modern table grape breeding providing the main source of seedlessness. This cultivar is also one of the most planted for fresh consumption and raisins production. Given its importance, we sequenced it and implemented a novel strategy for the de novo assembly of its highly heterozygous genome. RESULTS: Our approach produced a draft genome of 466 Mb, recovering 82% of the genes present in the grapevine reference genome; in addition, we identified 240 novel genes. A large number of structural variants and SNPs were identified. Among them, 45 (21 SNPs and 24 INDELs) were experimentally confirmed in 'Sultanina' and six SNPs in other 23 table grape varieties. Transposable elements corresponded to ca. 80% of the repetitive sequences involved in structural variants and more than 2,000 genes were affected in their structure by these variants. Some of these genes are likely involved in embryo development, suggesting that they may contribute to seedlessness, a key trait for table grapes. CONCLUSIONS: This work produced the first structural variants and SNPs catalog for grapevine, constituting a novel and very powerful tool for genomic studies in this key fruit crop, particularly useful to support marker assisted breeding in table grapes.


Assuntos
Genoma de Planta/genética , Vitis/genética , Vinho , Polimorfismo de Nucleotídeo Único/genética
16.
Brain Sci ; 14(8)2024 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-39199435

RESUMO

BACKGROUND: Lumbar foraminal stenosis (LFS) involves the narrowing of neural foramina, leading to nerve compression, significant lower back pain and radiculopathy, particularly in the aging population. Management includes physical therapy, medications and potentially invasive surgeries such as foraminotomy. Advances in diagnostic and treatment strategies are essential due to LFS's complexity and prevalence, which underscores the importance of a multidisciplinary approach in optimizing patient outcomes. METHOD: This literature review on LFS employed a systematic methodology to gather and synthesize recent scientific data. A comprehensive search was conducted across PubMed, Scopus and Cochrane Library databases using specific keywords related to LFS. The search, restricted to English language articles from 1 January 2000 to 31 December 2023, focused on peer-reviewed articles, clinical trials and reviews. Due to the heterogeneity among the studies, data were qualitatively synthesized into themes related to diagnosis, treatment and pathophysiology. RESULTS: This literature review on LFS analyzed 972 articles initially identified, from which 540 remained after removing duplicates. Following a rigorous screening process, 20 peer-reviewed articles met the inclusion criteria and were reviewed. These studies primarily focused on evaluating the diagnostic accuracy, treatment efficacy and pathophysiological insights into LFS. CONCLUSION: The comprehensive review underscores the necessity for precise diagnostic and management strategies for LFS, highlighting the role of a multidisciplinary approach and the utility of a unified classification system in enhancing patient outcomes in the face of this condition's increasing prevalence.

17.
Int J Med Mushrooms ; 15(3): 325-32, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23662619

RESUMO

Cantharellus cibarius is one of the most important wild, edible, and ectomycorrhizal mushrooms growing at La Malinche National Park, Tlaxcala, Mexico; therefore, the assessment of its biological properties is of great interest to know its potential as an alternative treatment to chemopreventive strategies when it is consumed as part of a diet. Comet assay was used to evaluate the antigenotoxic properties of several concentrations of aqueous extracts (0.0125, 0.025, 0.05, 0.1, and 0.2% w/v) prepared at room temperature (22 ± 2°C). As a test system we used human mononuclear cells exposed to methyl methanesulphonate (MMS) in vitro according to 3 different protocols: previous, simultaneous, and posterior. Previous (0.0125%) and simultaneous (0.1%) treatments resulted in the highest inhibitory efficiency. In the former, the cells assessed showed a tail length of 94.9 ± 64 µm; in the latter, the tails measured 106.2 ± 40 µm. Resulting percentages of reduction in damage were 236% and 196.1%, respectively. We did not obtain a dose-dependent response. The mean tail length for each protocol (previous, 133.1 ± 80 µm; simultaneous, 127.8 ± 57 µm; posterior, 146.3 ± 74 µm) was statistically significant with regard to the positive control (MMS).


Assuntos
Agaricales/química , Dano ao DNA/efeitos dos fármacos , Leucócitos Mononucleares/efeitos dos fármacos , Animais , Fracionamento Químico , Ensaio Cometa , Humanos , Água
18.
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
19.
Rev Esc Enferm USP ; 46(6): 1334-9, 2012 Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-23380775

RESUMO

The objective of this study was to understand the meaning of hysterectomy according to a group of Chilean men, partners of women who have undergone the procedure (MPWH). This qualitative study was performed with in-depth interviews. A total of 15 men, partners of women who have undergone hysterectomy, were interviewed between May and September of 2010, under the approval of the Ethics Committees. Data analysis was performed using the phenomenological perspective proposed by Giorgi, and content analysis was performed according to Krippendorff. The Crestwell criteria were used to evaluate the trustworthiness of the analysis and guarantee descriptive validity. Five dimensions emerged, which represented unique aspects of hysterectomy according to the men: symptoms, comments, the attributions of the uterus, concerns and changes in sexuality. It is essential to educate MPWH in terms of the support required by women undergoing hysterectomy. Therefore they should be included in the care plan designed for women undergoing hysterectomy.


Assuntos
Atitude Frente a Saúde , Histerectomia , Parceiros Sexuais/psicologia , Adulto , Chile , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
20.
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.

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