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1.
Nucleic Acids Res ; 51(18): 9764-9784, 2023 Oct 13.
Artículo en Inglés | MEDLINE | ID: mdl-37615575

RESUMEN

Transposable elements (TEs) produce structural variants and are considered an important source of genetic diversity. Notably, TE-gene fusion transcripts, i.e. chimeric transcripts, have been associated with adaptation in several species. However, the identification of these chimeras remains hindered due to the lack of detection tools at a transcriptome-wide scale, and to the reliance on a reference genome, even though different individuals/cells/strains have different TE insertions. Therefore, we developed ChimeraTE, a pipeline that uses paired-end RNA-seq reads to identify chimeric transcripts through two different modes. Mode 1 is the reference-guided approach that employs canonical genome alignment, and Mode 2 identifies chimeras derived from fixed or insertionally polymorphic TEs without any reference genome. We have validated both modes using RNA-seq data from four Drosophila melanogaster wild-type strains. We found ∼1.12% of all genes generating chimeric transcripts, most of them from TE-exonized sequences. Approximately ∼23% of all detected chimeras were absent from the reference genome, indicating that TEs belonging to chimeric transcripts may be recent, polymorphic insertions. ChimeraTE is the first pipeline able to automatically uncover chimeric transcripts without a reference genome, consisting of two running Modes that can be used as a tool to investigate the contribution of TEs to transcriptome plasticity.

2.
Lupus ; : 9612033241266987, 2024 Jul 21.
Artículo en Inglés | MEDLINE | ID: mdl-39034640

RESUMEN

BACKGROUND: Stress has been linked to worsening symptoms and increased disease activity in patients with Systemic lupus erythematosus (SLE). Life-events are individual stress points, and there is conflicting evidence regarding their role in SLE activity and disease perception. METHODS: Adult SLE patients were recruited for the study. Clinical and laboratory features of SLE were recorded, and previous diagnosis of anxiety or depression were retrieved from patients' electronic charts. Flares were defined by the Systemic Lupus Erythematosus Disease Activity (SLEDAI) flare Index, and flares during the previous year were documented. During a routine visit, they completed validated Portuguese translations of the 10-item Perceived Stress Scale (PSS-10), Hospital Anxiety and Depression Scale (HADS) and Life Experience Survey (LES) for the previous year. RESULTS: A total of 47 female SLE patients were recruited. Ten patients (21.3%) had experienced recent flares. Patients with recent flares reported fewer life events, with lower positive, negative, and total weightings sums compared to those without recent flares. Although 42.2% of patients perceived pathological levels of stress in the previous month, 48.9% had anxiety symptoms, and 34% were at high risk for an anxiety disorder, these psychometric measures did not differ significantly between the recent flare and no-flare groups. CONCLUSIONS: There is a high prevalence of pathological levels of stress among SLE patients. SLE patients with recent flares report less psychological impact from life events, both positive and negative, independent of other psychological or pharmacological factors.

3.
J Chem Phys ; 160(12)2024 Mar 28.
Artículo en Inglés | MEDLINE | ID: mdl-38526111

RESUMEN

The increasing presence of 1,1,1,2-tetrafluoroethane (CF3CH2F) in the atmosphere has prompted detailed studies into its complex photodissociation behavior. Experiments focusing on CF3CH2F irradiation have unveiled an array of ions, with the persistent observation of the rearrangement product CHF2+ not yet fully understood. In this work, we combine density functional theory, coupled-cluster calculations with a complete basis set formalism, and atom-centered density matrix propagation molecular dynamics to investigate the energetics and dynamics of different potential pathways leading to CHF2+. We found that the two-body dissociation pathway involving an HF rearrangement, which was previously considered complex for CHF2+ formation, is actually straightforward but not likely due to the facile loss of HF. In contrast, our calculations reveal that the H elimination pathway, once thought of as a potential route to CHF2+, is not only comparably disadvantageous from both thermodynamic and kinetic points of view but also does not align with experimental data, particularly the lack of a rebound peak at m/z 101-102. We establish that the formation of CHF2+ is predominantly via the HF elimination channel, a conclusion experimentally corroborated by studies involving the trifluoroethylene cation CF2CHF+, a key intermediate in this process.

4.
Brain Inj ; 38(2): 108-118, 2024 01 28.
Artículo en Inglés | MEDLINE | ID: mdl-38247393

RESUMEN

OBJECTIVE: The purpose of this study was to identify the occurrence of AKI, and factors associated with in-hospital mortality and unfavorable outcomes in patients with severe traumatic brain injury (TBI) and acute kidney injury (AKI) severity. METHOD: A retrospective cohort study which analyzed data with severe TBI between 2013 and 2017. We examined demographic and clinical information, and outcome by in-hospital mortality, and the Glasgow Outcome Scale six months after TBI. We associated factors to in-hospital mortality and unfavorable outcome in severe TBI and AKI with an association test. RESULTS: A total of 219 patients were selected, 39.3% had an AKI, and several factors associated with AKI occurrence after severe TBI. Stage 2 or 3 of AKI (OR 12.489; 95% CI = 4.45-37.94) were independent risk for both outcomes in multivariable models, severity injury by the New Trauma Injury Severity Score (OR 0.97; 95% CI = 0.96-0.99) for mortality, and the New Injury Severity Score (OR1.07; 95% CI = 1.04-1.10) and Trauma and Injury Severity Score (OR = 0.98; 95% CI = 0.965-0.997) for unfavorable outcome. CONCLUSION: The findings of our study confirmed that AKI severity and severity of injury was also related to increased mortality and unfavorable outcome after severe TBI.


Asunto(s)
Lesión Renal Aguda , Lesiones Traumáticas del Encéfalo , Humanos , Estudios Retrospectivos , Mortalidad Hospitalaria , Pronóstico , Lesiones Traumáticas del Encéfalo/complicaciones , Lesión Renal Aguda/etiología , Lesión Renal Aguda/epidemiología , Factores de Riesgo
5.
Magn Reson Chem ; 62(2): 114-120, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38258899

RESUMEN

NMR spectroscopy has become a standard technique in studies both on carbon capture and storage. 13 C NMR allows the detection of two peaks for carbonated aqueous samples: one for CO2(aq) and another one for the species H2 CO3 , HCO3 - , and CO3 2- -herein collectively named Hx CO3 x-2 . The chemical shift of this second peak depends on the molar fraction of the three species in equilibrium and has been used to assess the equilibrium between HCO3 - and CO3 2- . The detection of H2 CO3 at low pH solutions is hindered, because of the concurrent liberation of CO2 when the medium is acidified. Herein, a valved NMR tube facilitates the detection of the Hx CO3 x-2 peak across a wide pH range, even at pH 1.8 where the dominant species is H2 CO3 . The method employed the formation of frozen layers of NaH13 CO3 and acid solutions within the tube, which are mixed as the tube reaches room temperature. At this point, the tube is already securely sealed, preventing any loss of CO2 to the atmosphere. A spectrophotometry approach allowed the measurement of the actual pH inside the pressurized NMR tube. The chemical shift for H2 CO3 was determined as 160.33 ± 0.03 ppm, which is in good agreement with value obtained by DFT calculations combined with Car-Parrinello molecular dynamics. The H2 CO3 pKa value determined by the present method was 3.41 ± 0.03, for 15% D2 O aqueous medium and 0.8 mol/L ionic strength. The proposed method can be extended to studies about analogs such as alkyl carbonic and carbamic acids.

6.
Rev Panam Salud Publica ; 47: e115, 2023.
Artículo en Portugués | MEDLINE | ID: mdl-37489235

RESUMEN

Objective: To compare hospital mortality rates (HMR) due to severe acute respiratory syndrome (SARS) associated with COVID-19 recorded in metropolitan areas and other regions (interior) of Brazil in 2020 and 2021. Method: This ecological study used public data available on OpenDataSUS. The information was accessed in May 2022. The following variables were considered: age, sex, hospitalization, presence of a risk factor, ICU stay, use of ventilatory support, and final classification in the individual registration form of SARS cases due to COVID-19. Cases and deaths were stratified into five age groups (0-19 years, 20-39 years, 40-59 years, 60-79 years, and ≥80 years) and by place of residence (metropolitan area or interior). The HMR had as numerator the absolute number of deaths by SARS associated with covid-19; and, as a denominator, the absolute number of cases of SARS due to covid-19 according to the year of occurrence, area of residence, age bracket, sex, hospitalization, presence of a risk factor, ICU admission, and use of ventilatory support. Results: There was a significant increase in HMR due to SARS associated with COVID-19 in 2021 in all age groups, except 0-19 years and ≥80 years, as well as among individuals admitted to an ICU and who used invasive ventilatory support, both in metropolitan areas as well as in the interior. Conclusions: There was a worsening of the epidemiological scenario in 2021 with an increase in HMR. However, no differences were identified between the metropolitan regions and the interior of the country.


Objetivo: Comparar las tasas de mortalidad hospitalaria por el síndrome respiratorio agudo grave relacionado con la COVID-19 registradas en las regiones metropolitanas y el interior de Brasil en el período 2020-2021. Método: Se realizó un estudio ecológico con datos públicos disponibles en el sistema OpenDataSUS. La información se consultó en mayo del 2022. Se tomaron en cuenta las siguientes variables: edad, sexo, hospitalización, presencia de factores de riesgo, ingreso en la unidad de cuidados intensivos, uso de apoyo ventilatorio y clasificación final en la hoja de registro individual de casos del síndrome respiratorio agudo grave por COVID-19. Los casos y las defunciones se estratificaron en cinco grupos etarios (0-19 años, 20-39 años, 40-59 años, 60-79 años y ≥80 años) y por ubicación del municipio de residencia (región metropolitana o interior). El numerador de la tasa de mortalidad hospitalaria fue el número absoluto de defunciones por el síndrome respiratorio agudo grave relacionado con la COVID-19, y el denominador, el número absoluto de casos del mismo síndrome relacionado con la COVID-19 según el año de aparición, la residencia en una región metropolitana o en el interior, el grupo etario, el sexo, la hospitalización, la presencia de factores de riesgo, el ingreso en la unidad de cuidados intensivos y el uso de apoyo ventilatorio. Resultados: Se comprobó un aumento significativo de la tasa de mortalidad hospitalaria por el síndrome respiratorio agudo grave relacionado con la COVID-19 en el 2021 en todos los grupos etarios, excepto en los grupos de 0-19 años y ≥80 años, así como entre las personas internadas en la unidad de cuidados intensivos que recibieron apoyo respiratorio invasivo, tanto en las regiones metropolitanas como en el interior. Conclusiones: La situación epidemiológica empeoró en el 2021 con el aumento de la tasa de mortalidad hospitalaria, pero no se observaron diferencias entre las regiones metropolitanas y el interior del país.

7.
Pract Neurol ; 23(5): 414-417, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37474302

RESUMEN

Leukodystrophies are a group of genetic diseases with diverse clinical features and prominent involvement of the central nervous system white matter. We describe a 27-year-old man who presented with a progressive neurological disease, and striking involvement of the brainstem and symmetrical white matter lesions on MR scanning. Having excluded several other causes of leukodystrophy, we confirmed Alexander disease when a genetic panel showed a probable pathogenic variant in GFAP: p.Leu359Pro. Clinicians should suspect Alexander disease in people with a progressive neurological motor decline who has pyramidal and bulbar signs and compatible neuroimaging.


Asunto(s)
Enfermedad de Alexander , Médula Cervical , Masculino , Humanos , Adulto , Enfermedad de Alexander/complicaciones , Enfermedad de Alexander/diagnóstico por imagen , Enfermedad de Alexander/genética , Proteína Ácida Fibrilar de la Glía/genética , Médula Cervical/patología , Tronco Encefálico/diagnóstico por imagen , Tronco Encefálico/patología , Imagen por Resonancia Magnética/métodos
8.
J Cell Mol Med ; 26(3): 880-892, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34931449

RESUMEN

The aggregation of ß-amyloid peptide 42 results in the formation of toxic oligomers and plaques, which plays a pivotal role in Alzheimer's disease pathogenesis. Aß42 is one of several Aß peptides, all of Aß30 to Aß43 that are produced as a result of γ-secretase-mediated regulated intramembrane proteolysis of the amyloid precursor protein. γ-Secretase modulators (GSMs) represent a promising class of Aß42-lowering anti-amyloidogenic compounds for the treatment of AD. Gamma-secretase modulators change the relative proportion of secreted Aß peptides, while sparing the γ-secretase-mediated processing event resulting in the release of the cytoplasmic APP intracellular domain. In this study, we have characterized how GSMs affect the γ-secretase cleavage of three γ-secretase substrates, E-cadherin, ephrin type A receptor 4 (EphA4) and ephrin type B receptor 2 (EphB2), which all are implicated in important contexts of cell signalling. By using a reporter gene assay, we demonstrate that the γ-secretase-dependent generation of EphA4 and EphB2 intracellular domains is unaffected by GSMs. We also show that γ-secretase processing of EphA4 and EphB2 results in the release of several Aß-like peptides, but that only the production of Aß-like proteins from EphA4 is modulated by GSMs, but with an order of magnitude lower potency as compared to Aß modulation. Collectively, these results suggest that GSMs are selective for γ-secretase-mediated Aß production.


Asunto(s)
Enfermedad de Alzheimer , Precursor de Proteína beta-Amiloide , Enfermedad de Alzheimer/tratamiento farmacológico , Enfermedad de Alzheimer/metabolismo , Secretasas de la Proteína Precursora del Amiloide/metabolismo , Péptidos beta-Amiloides/metabolismo , Precursor de Proteína beta-Amiloide/metabolismo , Humanos , Mutación
9.
Electrophoresis ; 43(23-24): 2363-2376, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35984335

RESUMEN

The migration process in capillary electrophoresis is obtained by using a high-voltage power supply, and the basic idea is to keep the control on the migration velocity of the analytes by controlling either the applied voltage or current. The effectiveness of this control has impact on the resulting electropherogram and, thus, in the identification and quantification of the analytes. Although the usual electropherogram is the record of the detector signal as a function of time, other two domains should be considered: charge and mobility. Both mathematical modeling and experimental results were used to evaluate the two different approaches for controlling the electrophoretic migration and the resulting time-, charge-, and mobility-based electropherograms. The main conclusions are (1) the current-controlled mode is superior to the voltage-controlled mode; (2) when the first mode cannot be implemented, the electrophoretic current should be monitored to improve the identification and quantification procedures; and (3) the consistent monitoring of the electrophoretic current allows the implementation of the charge-based electropherogram and the mobility spectrum. The first one is advantageous because the peak position is more reproducible, and the peak area is more resistant to change than the ones from the time-based electropherogram. The mobility spectrum has the additional advantage of being more informative about the mobility of the analytes. Although peak area is less robust, the spectrum may also be used for quantitation when the number of plates is greater than 103 .


Asunto(s)
Electroforesis Capilar , Modelos Teóricos , Electroforesis Capilar/métodos
10.
Osteoporos Int ; 33(1): 283-291, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34406442

RESUMEN

It is of great importance to investigate any potential detrimental effect on bone health in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy. This study demonstrated normal bone health in well-controlled patients. Additionally, glucocorticoid dose may play an important role in the mineral density of femoral neck region. PURPOSE: To compare regional bone mineral densities (BMDs) and bone statuses of young adults with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase enzyme (21OHase) deficiency with a control group. The duration and dose of glucocorticoid therapy and relative skeletal muscle index (an indicator of sarcopenia) were also analyzed as parameters to predict bone health. METHODS: This case-control study included 23 patients (7 male and 16 female) and 20 controls (8 male and 12 female) matched by age range (18 to 31 years). Dual energy X-ray absorptiometry and phalangeal quantitative ultrasound (QUS) were used to estimate BMD and bone status, respectively. RESULTS: No difference was observed between patients and controls (of both sexes) in absolute values of BMD and Z-scores for the total body, lumbar spine, and femoral neck; or the bone status (estimated by phalangeal QUS). Multiple linear regression analysis demonstrated that relative skeletal muscle index independently correlated with BMD of the entire body (ß: 0.67, P = 0.007), the lumbar spine (ß: 0.73, P = 0.005), and the femoral neck (ß: 0.67, P = 0.007). However, the dose of glucocorticoids (ß: - 0.38, P = 0.028) independently correlated with BMD in the femoral neck region alone. CONCLUSION: No signs of change in bone health were observed in patients with CAH when compared to the reference group. Additionally, a marker of sarcopenia was demonstrated to have a role in mineral density mechanisms in all analyzed bone sites. Only the femoral neck BMD seemed to be significantly dependent on glucocorticoid dose.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Glucocorticoides , Absorciometría de Fotón , Adolescente , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Adulto , Densidad Ósea , Estudios de Casos y Controles , Femenino , Cuello Femoral , Glucocorticoides/efectos adversos , Humanos , Vértebras Lumbares/diagnóstico por imagen , Masculino , Esteroide 21-Hidroxilasa , Adulto Joven
11.
J Hered ; 113(6): 577-588, 2022 11 30.
Artículo en Inglés | MEDLINE | ID: mdl-35395669

RESUMEN

The California Conservation Genomics Project (CCGP) is a unique, critically important step forward in the use of comprehensive landscape genetic data to modernize natural resource management at a regional scale. We describe the CCGP, including all aspects of project administration, data collection, current progress, and future challenges. The CCGP will generate, analyze, and curate a single high-quality reference genome and 100-150 resequenced genomes for each of 153 species projects (representing 235 individual species) that span the ecological and phylogenetic breadth of California's marine, freshwater, and terrestrial ecosystems. The resulting portfolio of roughly 20 000 resequenced genomes will be analyzed with identical informatic and landscape genomic pipelines, providing a comprehensive overview of hotspots of within-species genomic diversity, potential and realized corridors connecting these hotspots, regions of reduced diversity requiring genetic rescue, and the distribution of variation critical for rapid climate adaptation. After 2 years of concerted effort, full funding ($12M USD) has been secured, species identified, and funds distributed to 68 laboratories and 114 investigators drawn from all 10 University of California campuses. The remaining phases of the CCGP include completion of data collection and analyses, and delivery of the resulting genomic data and inferences to state and federal regulatory agencies to help stabilize species declines. The aspirational goals of the CCGP are to identify geographic regions that are critical to long-term preservation of California biodiversity, prioritize those regions based on defensible genomic criteria, and provide foundational knowledge that informs management strategies at both the individual species and ecosystem levels.


Asunto(s)
Biodiversidad , Ecosistema , Filogenia , Genómica , Agua Dulce , California , Conservación de los Recursos Naturales
12.
Neurocrit Care ; 37(3): 790-805, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-35941405

RESUMEN

This review aimed to analyze the results of investigations that performed external validation or that compared prognostic models to identify the models and their variations that showed the best performance in predicting mortality, survival, and unfavorable outcome after severe traumatic brain injury. Pubmed, Embase, Scopus, Web of Science, Cumulative Index to Nursing and Allied Health Literature, Google Scholar, TROVE, and Open Grey databases were searched. A total of 1616 studies were identified and screened, and 15 studies were subsequently included for analysis after applying the selection criteria. The Corticosteroid Randomization After Significant Head Injury (CRASH) and International Mission for Prognosis and Analysis of Clinical Trials in Traumatic Brain Injury (IMPACT) models were the most externally validated among studies of severe traumatic brain injury. The results of the review showed that most publications encountered an area under the curve ≥ 0.70. The area under the curve meta-analysis showed similarity between the CRASH and IMPACT models and their variations for predicting mortality and unfavorable outcomes. Calibration results showed that the variations of CRASH and IMPACT models demonstrated adequate calibration in most studies for both outcomes, but without a clear indication of uncertainties in the evaluations of these models. Based on the results of this meta-analysis, the choice of prognostic models for clinical application may depend on the availability of predictors, characteristics of the population, and trauma care services.


Asunto(s)
Lesiones Traumáticas del Encéfalo , Humanos , Pronóstico , Lesiones Traumáticas del Encéfalo/diagnóstico , Lesiones Traumáticas del Encéfalo/terapia , Lesiones Traumáticas del Encéfalo/epidemiología , Bases de Datos Factuales
13.
An Acad Bras Cienc ; 94(3): e20210917, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35920489

RESUMEN

Molecular machines, as exemplified by the kinesin and microtubule system, are responsible for molecular transport in cells. The monitoring of the cellular machinery has attracted much attention in recent years, requiring sophisticated techniques such as optical tweezers, and dark field hyperspectral and fluorescence microscopies. It also demands suitable procedures for immobilization and labeling with functional agents such as dyes, plasmonic nanoparticles and quantum dots. In this work, microtubules were co-polymerized by incubating a tubulin mix consisting of 7 biotinylated tubulin to 3 rhodamine tubulin. Rhodamine provided the fluorescent tag, while biotin was the anchoring group for receiving streptavidin containing species. To control the microtubule alignment and consequently, the molecular gliding directions, functionalized iron oxide nanoparticles were employed in the presence of an external magnet field. Such iron oxide nanoparticles, (MagNPs) were previously coated with silica and (3-aminopro-pyl)triethoxysilane (APTS) and then modified with streptavidin (SA) for linking to the biotin-functionalized microtubules. In this way, the binding has been successfully performed, and the magnetic alignment probed by Inverted Fluorescence Microscopy. The proposed strategy has proved promising, as tested with one of the most important biological structures of the cellular machinery.


Asunto(s)
Biotina , Tubulina (Proteína) , Biotina/análisis , Biotina/química , Biotina/metabolismo , Óxido Ferrosoférrico/análisis , Óxido Ferrosoférrico/metabolismo , Fenómenos Magnéticos , Microscopía Fluorescente , Microtúbulos/química , Microtúbulos/metabolismo , Rodaminas/análisis , Rodaminas/metabolismo , Estreptavidina/análisis , Estreptavidina/química , Estreptavidina/metabolismo , Tubulina (Proteína)/análisis , Tubulina (Proteína)/metabolismo
14.
Exp Appl Acarol ; 87(2-3): 207-218, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35969314

RESUMEN

The Hindustan citrus mite, Schizotetranychus hindustanicus (Acari: Tetranychidae), is an invasive pest in South America and constitutes a threat to Brazilian citriculture. This study aimed to determine the contribution of weather variables to the seasonal abundance of S. hindustanicus and the best sampling scheme (sampling variable and unit) for this mite. Populations of S. hindustanicus were monitored monthly in an orange orchard for 31 months in Roraima state, Brazil. Eggs, mobile stages, and the symptoms caused by S. hindustanicus were sampled in different combinations of canopy quadrants, vertical tree strata, and branch sections. The optimal sampling variable and sampling unit for S. hindustanicus scouting were determined according to fidelity and precision criteria. Rainfall and high air temperature were the main factors reducing S. hindustanicus populations. The most suitable variable for S. hindustanicus sampling was egg count. The optimal sampling unit was a leaf collected in the central section of branches located in the middle tree stratum. In addition, the sample should be taken from the southwest quadrant. Collectively, this study adds to the understanding of S. hindustanicus population dynamics and provides a sampling scheme for better management of this pest.


Asunto(s)
Citrus , Ácaros , Tetranychidae , Animales , Brasil , Dinámica Poblacional
15.
J Evol Biol ; 34(4): 628-638, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33484011

RESUMEN

It has been shown that stressors are capable of activating transposable elements (TEs). Currently, there is a hypothesis that stress activation of TEs may be involved in adaptive evolution, favouring the increase in genetic variability when the population is under adverse conditions. However, TE activation under stress is still poorly understood. In the present study, we estimated the fraction of differentially expressed TEs (DETEs) under ionizing radiation (144, 360 and 864 Gy) and oxidative stress (dioxin, formaldehyde and toluene) treatments. The stress intensity of each treatment was estimated by measuring the number of differentially expressed genes, and we show that several TEs families are activated by stress whereas others are repressed. The proportion of DETEs was positively related to stress intensity. However, even under the strongest stress, only a small fraction of TE families were activated (9.28%) and 17.72% were repressed. Considering all treatments together, the activated proportion was 19.83%. Nevertheless, as several TEs are incomplete or degenerated, only 10.55% of D. melanogaster mobilome is, at same time, activated by the stressors and able to transpose or at least code a protein. Thus, our study points out that although stress activates TEs, it is not a generalized activation process, and for some families, the stress induces repression.


Asunto(s)
Elementos Transponibles de ADN/efectos de la radiación , Drosophila melanogaster/metabolismo , Estrés Oxidativo , Inanición/metabolismo , Transcripción Genética/efectos de la radiación , Animales , Drosophila melanogaster/efectos de la radiación , Rayos gamma , Masculino
16.
Int J Clin Pract ; 75(7): e14233, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33884716

RESUMEN

BACKGROUND: The association of congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase enzyme (21OHase) deficiency, duration of treatment and dosage with cardiovascular dysfunction in young adults remains unclear. We aimed to evaluate myocardial function, vascular structures and epicardial fat thickness in young adults with CAH as a result of 21OHase deficiency. Correlations between the duration and dose of glucocorticoid therapy and cardiovascular parameters were analysed. METHODS: This case-control study of young adults (18-31 years old) included 20 patients (5 men and 15 women) and 16 control subjects (8 men and 8 women). Echocardiographic analysis was performed using high-resolution ultrasound. RESULTS: No ultrasonographic changes in any indices of myocardial function, vascular structures and epicardial fat thickness were found in patients, except for an impaired left ventricular end-diastolic diameter in female patients (28.1 ± 1.6 vs 26.0 ± 2.4 mm/m2 , P = .021), compared with those in individuals in the control group. Nevertheless, the individual patient values were within the normal range. Multiple linear regression analysis in female patients demonstrated that an elevated daily dose of glucocorticoids correlated with increased indices of left ventricular posterior wall thickness (Partial r = 0.68, P = .007), left ventricular end-diastolic diameter (Partial r = 0.62, P = .017), aortic diameter (Partial r = 0.60, P = .022) and left carotid artery intima-media thickness (Partial r = 0.61, P = .021), independently of treatment duration. CONCLUSION: No signs of cardiovascular dysfunction were observed in any patient. The daily dose of glucocorticoids may play a role in the mechanisms of some markers of cardiac hypertrophy, left ventricular and aortic dilation and subclinical atherosclerosis.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Esteroide 21-Hidroxilasa , Adolescente , Hiperplasia Suprarrenal Congénita/complicaciones , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Adulto , Grosor Intima-Media Carotídeo , Estudios de Casos y Controles , Ecocardiografía , Femenino , Humanos , Masculino , Factores de Riesgo , Adulto Joven
17.
J Aging Phys Act ; 29(2): 280-287, 2021 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-33091875

RESUMEN

This cross-sectional study aimed to investigate the psychological factors that might predict the sedentary behavior of 654 older adults from the South Region of Brazil. The participants were evaluated by the International Physical Activity Questionnaire; Mini-Mental State Exam; Geriatric Anxiety Scale; and the scales Geriatric Depression, Purpose in Life, Perceived Stress, Rosenberg Self-Esteem, and Satisfaction with Life. Data analysis was conducted through Pearson correlation and multiple regression analysis (p < .05). No significant (p > .05) correlation was found between the sedentary behavior variables with self-esteem. Multiple regression analysis revealed that psychological variables explained 6% of the variance of sitting time during the week (R2 = .06; F = 11.546; p < .01). Depression showed a positive prediction (ß = -0.10; p = .040), while life satisfaction (ß = -0.16; p = .001) and purpose in life (ß = -0.10; p = .026) showed negative prediction. Psychological variables predicted only 3% of the variance of sitting time during the weekend (R2 = .03; F = 5.629; p < .01), showing that life satisfaction had significant (p = .007) and negative (ß = -0.13) association. Life satisfaction and purpose in life can be considered protector factors to sedentary behavior, while depression is a potentiating factor.


Asunto(s)
Conducta Sedentaria , Estrés Psicológico , Anciano , Brasil , Estudios Transversales , Humanos , Autoimagen
18.
Planta ; 252(3): 34, 2020 Aug 06.
Artículo en Inglés | MEDLINE | ID: mdl-32761417

RESUMEN

MAIN CONCLUSION: Accumulation of specific metabolites, mainly γ-aminobutyric acid, polyamines, and proline, was essential to homeostasis regulation and differential salt tolerance in sorghum genotypes. Salinity is severe abiotic stress that limits plant growth and development in arid and semi-arid regions. Survival to abiotic stresses depends on metabolic and sometimes even morphological adjustments. We measured the growth parameters, water relations, the content of ions (Na+, K+, Cl-), compatible solutes [some free amino acids (FAAs) including γ-aminobutyric acid (GABA) and proline and soluble carbohydrates) and polyamines (PAs), the activity of PAs metabolism enzymes, and metabolomic profile in plants after 14 days of salt stress treatment. These analyses were to evaluate the influence of metabolomic responses of sorghum genotypes exhibiting sensitivity (CSF18) or tolerance (CSF20) to salinity on plant growth. The salinity promoted growth reductions and induced increases in Na+ and Cl- content and decreases in K+ content. The water status and osmotic potential (Ψo) were reduced by salt stress, but to minimize damage, especially in the CSF20, the osmolytes and PAs contributed to the osmotic adjustment. The results showed that salinity induced an increase in putrescine (Put) in the sensitive genotype. However, it raised spermidine (Spd), spermine (Spm), and cadaverine (Cad) in the tolerant genotype. In addition, the regulation of polyamine oxidase can be related to Spm and GABA biosynthesis. Differential metabolic changes to salt tolerance include metabolites associated with tricarboxylic acid (TCA) cycle intermediates and the metabolisms of sugars, FAAs, and PAs.


Asunto(s)
Desarrollo de la Planta/genética , Hojas de la Planta/genética , Hojas de la Planta/metabolismo , Tolerancia a la Sal/genética , Tolerancia a la Sal/fisiología , Sorghum/genética , Sorghum/metabolismo , Variación Genética , Genotipo , Desarrollo de la Planta/fisiología , Estrés Salino/genética , Estrés Salino/fisiología
19.
Rheumatology (Oxford) ; 59(11): 3314-3323, 2020 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-32303057

RESUMEN

OBJECTIVES: To compare membranous lupus nephritis (MLN) and proliferative lupus nephritis (PLN) with respect to survival, demographic, clinical and laboratory characteristics; and to investigate predictors of renal and patient survival. METHODS: Single-centre retrospective observational study. Patients with biopsy-proven PLN, MLN and mixed lupus nephritis were included. Groups were compared using appropriate statistical tests and survival was analysed through the Kaplan-Meier method. Cox regression analysis was performed to investigate predictors of renal and patient survival. RESULTS: A total of 187 patients with biopsy-proven lupus nephritis (135 with PLN, 38 with MLN and 14 with mixed LN) were followed for up to 42 years (median 12 years). There was a higher proportion of MLN amongst Afro-Caribbeans than amongst Caucasians (31% vs 15%, P = 0.010). Patients with MLN had significantly lower anti-dsDNA antibodies (P = 0.001) and higher C3 levels (P = 0.018) at diagnosis. Cumulative renal survival rates at 5, 10, 15 and 20 years were 91, 81, 75 and 66% for PLN and 100, 97, 92 and 84% for MLN, respectively (P = 0.028). Cumulative patient survival at 5, 10, 15 and 20 years was 94, 86, 80 and 76%, with no difference between PLN and MLN. Urinary protein-creatinine ratio above 42 mg/mmol and eGFR below 76 ml/min/1.73 m2, one year after the diagnosis of LN, were the strongest predictors of progression to end-stage renal disease. eGFR below 77 ml/min/1.73 m2, at one year, development of end-stage renal disease and Afro-Caribbean ethnicity were associated with higher mortality. CONCLUSION: Patients with MLN and PLN differ significantly regarding serological profiles and renal survival, suggesting different pathogenesis. Renal function at year one predicts renal and patient survival.


Asunto(s)
Nefritis Lúpica/mortalidad , Adulto , Anticuerpos/sangre , Biomarcadores/sangre , Complemento C3/análisis , ADN/inmunología , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Tasa de Filtración Glomerular , Humanos , Estimación de Kaplan-Meier , Riñón/fisiología , Nefritis Lúpica/sangre , Nefritis Lúpica/clasificación , Nefritis Lúpica/etnología , Masculino , Análisis de Regresión , Estudios Retrospectivos , Factores de Tiempo , Supervivencia Tisular
20.
J Anat ; 236(3): 384-397, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-31670465

RESUMEN

Dicynodontia is a major clade of terrestrial tetrapods that greatly diversified during the Permian and Triassic periods, reaching a worldwide distribution. In this study, the endocranial cavity of the Brazilian Permian dicynodont Rastodon procurvidens is described based on a digital endocast obtained using digital imaging (X-ray computed tomography) and 3D modeling. It was possible to reconstruct the brain, olfactory bulbs, inner ear, some neurovascular canals, cranial nerves, the nasal cavity, and the maxillary recesses. The endocast of R. procurvidens preserves a typical plesiomorphic morphology of non-mammaliaform therapsids, being predominantly tubular and displaying a relatively short and robust hindbrain. Encephalization quotients (EQs) were calculated for R. procurvidens, resulting in EQs of 0.09 ± 0.03 and 0.13 ± 0.05 (Jerison's EQ and Manger's EQ, respectively). Finally, some biological implications of the endocast morphology were inferred for R. procurvidens. Its inner ear is especially small, and its orientation implies a slightly downturned head posture in life. Furthermore, the presence of uncompressed maxillary recesses in R. procurvidens indicates a correlation between the enlargement of the recesses and the reduction of the tusks, also seen in other dicynodonts with reduced tusks.


Asunto(s)
Encéfalo/anatomía & histología , Fósiles , Cráneo/anatomía & histología , Animales , Evolución Biológica , Encéfalo/diagnóstico por imagen , Brasil , Imagenología Tridimensional , Cráneo/diagnóstico por imagen , Tomografía Computarizada por Rayos X
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