Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 43
Filtrar
Mais filtros

Base de dados
Tipo de documento
Intervalo de ano de publicação
1.
Anim Genet ; 53(3): 264-280, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35384007

RESUMO

The beef fatty acid (FA) profile has the potential to impact human health, and displays polygenic and complex features. This study aimed to identify the transcriptomic FA profile in the longissimus thoracis muscle in Nellore beef cattle finished in feedlot. Forty-four young bulls were sampled to assess the beef FA profile by considering 14 phenotypes and including differentially expressed genes (DEG), co-expressed (COE), and differentially co-expressed genes (DCO) analyses. All samples (n = 44) were used for COE analysis, whereas 30 samples with extreme phenotypes for the beef FA profile were used for DEG and DCO. A total of 912 DEG were identified, and the polyunsaturated (n = 563) and unsaturated ω-3 (n = 346) FA sums groups were the most frequently observed. The COE analyses identified three modules, of which the blue module (n = 1776) was correlated with eight of 14 FA phenotypes. Also, 759 DCO genes were listed, and the oleic acid (n = 358) and monounsaturated fatty acids sum (n = 120) were the most frequent. Furthermore, 243 and 13, 319 and seven, and 173 and 12 gene ontology terms and Kyoto Encyclopedia of Genes and Genomes pathways were enriched respectively for the DEG, COE, and DCO analyses. Combining the results, we highlight the unexplored GIPC2, ASB5, and PPP5C genes in cattle. Besides LIPE and INSIG2 genes in COE modules, the ACSL3, ECI1, DECR2, FITM1, and SDHB genes were signaled in at least two analyses. These findings contribute to understand the genetic mechanisms underlying the beef FA profile in Nellore beef cattle finished in feedlot.


Assuntos
Ácidos Graxos , Transcriptoma , Animais , Bovinos/genética , Ácidos Graxos/análise , Masculino , Carne/análise , Músculo Esquelético/metabolismo , Fenótipo
2.
J Strength Cond Res ; 36(6): 1506-1510, 2022 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-31904718

RESUMO

ABSTRACT: Dos Santos, WM, Tavares Junior, AC, Braz, TV, Lopes, CR, Brigatto, FA, and Dos Santos, JW. Resistance-trained individuals can underestimate the intensity of the resistance training session: An analysis among genders, training experience, and exercises. J Strength Cond Res 36(6): 1506-1510, 2022-Resistance training (RT) promotes improvements in healthy parameters for young to elderly adults and athletes' performance. Strength and muscle mass improvements are dependent on exercise intensity. This study verifies whether 53 healthy young adults underestimate exercise intensity in 3 different exercises, such as bench press (BP), biceps curl (BC), and leg press 45° (LP). Researchers asked the subjects "How much load do you use to perform 10 repetitions in this exercise usually in workout routines?" in each exercise. Individuals warmed up and then performed as many repetitions as possible until they reached the concentric failure. Deviations from data normality were found by using Levene's test; the number of repetitions per exercise within sex was tested by using Friedman's test and Conover's post hoc and Kruskal-Wallis tests to compare the number of repetitions between sex and RT experience. We correlated the number of repetitions and training experience using the Spearman test. The number of repetitions for both groups (male and female) is greater than 8-12 repetitions for BC and LP and BP of the female group, except for men who perform around 8-12 repetitions on BP. Frequency of maximal repetitions reached for 8-12 repetitions for women was 12% for BP, 28% for BC, and 28% for LP. The frequency men reached was 46.5% for BP, 14.3% for BC, and 14.3% for LP. Training experience did not influence the number of repetitions reached. Resistance training practitioners underestimate exercise load (56% of total sample) to be independent of experience. Women underestimate exercise load more than men. Based on the present results, it is possible to state that RT should not be prescribed considering a predefined number of repetitions and a linked percentage of loads, without the guidance for frequent adjustments of loads, according to the exercise performed.


Assuntos
Treinamento Resistido , Idoso , Exercício Físico/fisiologia , Feminino , Humanos , Masculino , Força Muscular , Músculo Esquelético/fisiologia , Treinamento Resistido/métodos , Levantamento de Peso/fisiologia , Adulto Jovem
3.
Scand J Gastroenterol ; 56(8): 920-928, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34218733

RESUMO

AIMS: Epigenetic alterations of genes involved in colorectal carcinogenesis are likely to be informative biomarkers for early detection. We assessed the methylation profile of a panel of seven colon cancer-related genes comparing normal colon, colorectal cancer (CRC) precursor lesions and cancer tissues from a Brazilian cohort. METHODS: The cohort comprised 114 CRC patients, including 40 matched normal tissue, 47 patients with adenomas, 33 with serrated polyps and 8 with normal colonic biopsy. DNA methylation status of SEPT9, ALX4, NDRG4, BMP3, APC, p16 and MLH1 was determined by pyrosequencing and correlated with clinicopathological features. Sensitivity, specificity, positive predictive value and negative predictive value were calculated for all genes using cancer endpoint. RESULTS: The most frequently methylated genes in cancer and in precancer lesions were SEPT9, ALX4, NDRG4, and BMP3, ranging from 55.3 to 95% of the samples. Overall, the frequency of methylation of these four genes in normal colonic tissue was significantly lower as compared to cancer or precursor lesions both in adenoma-carcinoma (p < .001 and p < .050) and serrated (sessile-serrated lesion) (p < .001 and p < .050) pathways. Additionally, sensitivity for the cancer endpoint ranged from 65.6 to 91.8%, and specificity from 17.9 to 62.9% for SEPT9, ALX4, NDRG4, and BMP3 genes. Moreover, the comethylation of ≥4 genes was higher in sessile-serrated lesion (87.5%) and conventional adenomas (78.7%) than in hyperplastic polyps (43.7%) (p = .025) and was significantly associated with proximal cancers (p = .042). CONCLUSIONS: Our study suggests the DNA methylation can constitute potential biomarkers in CRC screening of Brazilian population.


Assuntos
Adenoma , Neoplasias do Colo , Pólipos do Colo , Neoplasias Colorretais , Adenoma/genética , Biomarcadores Tumorais/genética , Neoplasias do Colo/genética , Pólipos do Colo/genética , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/genética , Metilação de DNA , Detecção Precoce de Câncer , Humanos
4.
J Enzyme Inhib Med Chem ; 36(1): 1370-1377, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34148470

RESUMO

Organophosphorus poisoning caused by some pesticides and nerve agents is a life-threating condition that must be swiftly addressed to avoid casualties. Despite the availability of medical countermeasures, the clinically available compounds lack a broad spectrum, are not effective towards all organophosphorus toxins, and have poor pharmacokinetics properties to allow them crossing the blood-brain barrier, hampering cholinesterase reactivation at the central nervous system. In this work, we designed and synthesised novel isatin derivatives, linked to a pyridinium 4-oxime moiety by an alkyl chain with improved calculated properties, and tested their reactivation potency against paraoxon- and NEMP-inhibited acetylcholinesterase in comparison to the standard antidote pralidoxime. Our results showed that these compounds displayed comparable in vitro reactivation also pointed by the in silico studies, suggesting that they are promising compounds to tackle organophosphorus poisoning.


Assuntos
Acetilcolinesterase/efeitos dos fármacos , Reativadores da Colinesterase/farmacologia , Isatina/farmacologia , Piridinas/farmacologia , Simulação por Computador , Técnicas In Vitro
5.
J Anim Breed Genet ; 138(2): 161-173, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32949478

RESUMO

With the availability of high-density SNP panels and the establishment of approaches for characterizing homozygosity and heterozygosity sites, it is possible to access fine-scale information regarding genomes, providing more than just comparisons of different inbreeding coefficients. This is the first study that seeks to access such information for the Mangalarga Marchador (MM) horse breed on a genomic scale. To this end, we aimed to assess inbreeding levels using different coefficients, as well as to characterize homozygous and heterozygous runs in the population. Using Axiom ® Equine Genotyping Array-670k SNP (Thermo Fisher), 192 horses were genotyped. Our results showed different estimates: inbreeding from genomic coefficients (FROH ) = 0.16; pedigree-based (FPED ) = 0.008; and a method based on excess homozygosity (FHOM ) = 0.010. The correlations between the inbreeding coefficients were low to moderate, and some comparisons showed negative correlations, being practically null. In total, 85,295 runs of homozygosity (ROH) and 10,016 runs of heterozygosity (ROHet) were characterized for the 31 horse autosomal chromosomes. The class with the highest percentage of ROH was 0-2 Mbps, with 92.78% of the observations. In the ROHet results, only the 0-2 class presented observations, with chromosome 11 highlighted in a region with high genetic variability. Three regions from the ROHet analyses showed genes with known functions: tripartite motif-containing 37 (TRIM37), protein phosphatase, Mg2+ /Mn2+ dependent 1E (PPM1E) and carbonic anhydrase 10 (CA10). Therefore, our findings suggest moderate inbreeding, possibly attributed to breed formation, annulling possible recent inbreeding. Furthermore, regions with high variability in the MM genome were identified (ROHet), associated with the recent selection and important events in the development and performance of MM horses over generations.


Assuntos
Endogamia , Animais , Genoma , Genótipo , Homozigoto , Cavalos , Polimorfismo de Nucleotídeo Único
6.
Trop Anim Health Prod ; 52(6): 3555-3565, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32946021

RESUMO

INTRODUCTION: The emergence of myopathies such as wooden breast in the poultry industry generally associated with the fast development of the breast muscle of broilers has provided changes in the morphological structure of muscle tissues, as well as problems of meat qualitative attributes. The aim of this study was to evaluate physical, chemical, qualitative, and sensorial attributes of broiler fillets associated with severity levels of wooden breast (WB) myopathy in a poultry slaughterhouse. MATERIALS AND METHODS: Three hundred fillets in a poultry slaughterhouse were classified into three severity levels: normal (100 samples), moderate (100 samples), and severe (100 samples). RESULTS: After identification, classification, and description of changes, fillets with a severe WB level presented higher levels of red (a*), yellow (b*), and final pH. The lowest shear force and the highest myofibrillar fragmentation index were observed in fillets with a severe level when compared with normal fillets. The collagen content increased according to severity level. Tasters better evidenced the characteristic taste of chicken meat when tasting fillets with a severe WB level when compared with normal and moderate fillets. The succulence and preference of the Brazilian testers increased according to the severity level of the myopathy. CONCLUSION: In general, fillets with moderate and severe WB myopathy were affected not only in appearance but also in qualitative, physical, chemical, and sensory characteristics.


Assuntos
Galinhas , Comportamento do Consumidor/estatística & dados numéricos , Carne/análise , Doenças Musculares/veterinária , Músculos Peitorais/patologia , Doenças das Aves Domésticas/patologia , Animais , Masculino , Doenças Musculares/classificação , Doenças Musculares/patologia , Doenças das Aves Domésticas/classificação
7.
Med Biol Eng Comput ; 61(5): 1057-1081, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36662377

RESUMO

In December 2019, the spread of the SARS-CoV-2 virus to the world gave rise to probably the biggest public health problem in the world: the COVID-19 pandemic. Initially seen only as a disease of the respiratory system, COVID-19 is actually a blood disease with effects on the respiratory tract. Considering its influence on hematological parameters, how does COVID-19 affect cardiac function? Is it possible to support the clinical diagnosis of COVID-19 from the automatic analysis of electrocardiography? In this work, we sought to investigate how COVID-19 affects cardiac function using a machine learning approach to analyze electrocardiography (ECG) signals. We used a public database of ECG signals expressed as photographs of printed signals, obtained in the context of emergency care. This database has signals associated with abnormal heartbeat, myocardial infarction, history of myocardial infarction, COVID-19, and healthy heartbeat. We propose a system to support the diagnosis of COVID-19 based on hybrid deep architectures composed of pre-trained convolutional neural networks for feature extraction and Random Forests for classification. We investigated the LeNet, ResNet, and VGG16 networks. The best results were obtained with the VGG16 and Random Forest network with 100 trees, with attribute selection using particle swarm optimization. The instance size has been reduced from 4096 to 773 attributes. In the validation step, we obtained an accuracy of 94%, kappa index of 0.91, and sensitivity, specificity, and area under the ROC curve of 100%. This work showed that the influence of COVID-19 on cardiac function is quite considerable: COVID-19 did not present confusion with any heart disease, nor with signs of healthy individuals. It is also possible to build a solution to support the clinical diagnosis of COVID-19 in the context of emergency care from a non-invasive and technologically scalable solution, based on hybrid deep learning architectures.


Assuntos
COVID-19 , Infarto do Miocárdio , Humanos , COVID-19/diagnóstico , SARS-CoV-2 , Pandemias , Aprendizado de Máquina , Eletrocardiografia , Infarto do Miocárdio/diagnóstico
8.
Sci Rep ; 13(1): 15585, 2023 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-37731038

RESUMO

The non-stationary nature of the EEG signal poses challenges for the classification of motor imagery. sparse representation classification (SRC) appears as an alternative for classification of untrained conditions and, therefore, useful in motor imagery. Empirical mode decomposition (EMD) deals with signals of this nature and appears at the rear of the classification, supporting the generation of features. In this work we evaluate the combination of these methods in a multiclass classification problem, comparing them with a conventional method in order to determine if their performance is regular. For comparison with SRC we use multilayer perceptron (MLP). We also evaluated a hybrid approach for classification of sparse representations with MLP (RSMLP). For comparison with EMD we used filtering by frequency bands. Feature selection methods were used to select the most significant ones, specifically Random Forest and Particle Swarm Optimization. Finally, we used data augmentation to get a more voluminous base. Regarding the first dataset, we observed that the classifiers that use sparse representation have results equivalent to each other, but they outperform the conventional MLP model. SRC and SRMLP achieve an average accuracy of [Formula: see text] and [Formula: see text] respectively while the MLP is [Formula: see text], representing a gain between [Formula: see text] and [Formula: see text]. The use of EMD in relation to other feature processing techniques is not superior. However, EMD does not influence negatively, there is an opportunity for improvement. Finally, the use of data augmentation proved to be important to obtain relevant results. In the second dataset, we did not observe the same results. Models based on sparse representation (SRC, SRMLP, etc.) have on average a performance close to other conventional models, but without surpassing them. The best sparse models achieve an average accuracy of [Formula: see text] among the subjects in the base, while other model reach [Formula: see text]. The improvement of self-adaptive mechanisms that respond efficiently to the user's context is a good way to achieve improvements in motor imagery applications. However, other scenarios should be investigated, since the advantage of these methods was not proven in all datasets studied. There is still room for improvement, such as optimizing the dictionary of sparse representation in the context of motor imagery. Investing efforts in synthetically increasing the training base has also proved important to reduce the costs of this group of applications.

9.
Metabolites ; 12(5)2022 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-35629975

RESUMO

Beef is a source of essential fatty acids (EFA), linoleic (LA) and alpha-linolenic (ALA) acids, which protect against inflammatory and cardiovascular diseases in humans. However, the intramuscular EFA profile in cattle is a complex and polygenic trait. Thus, this study aimed to identify potential regulatory genes of the essential fatty acid profile in Longissimus thoracis of Nellore cattle finished in feedlot. Forty-four young bulls clustered in four groups of fifteen animals with extreme values for each FA were evaluated through differentially expressed genes (DEG) analysis and two co-expression methodologies (WGCNA and PCIT). We highlight the ECHS1, IVD, ASB5, and ERLIN1 genes and the TF NFIA, indicated in both FA. Moreover, we associate the NFYA, NFYB, PPARG, FASN, and FADS2 genes with LA, and the RORA and ELOVL5 genes with ALA. Furthermore, the functional enrichment analysis points out several terms related to FA metabolism. These findings contribute to our understanding of the genetic mechanisms underlying the beef EFA profile in Nellore cattle finished in feedlot.

10.
BMC Med Genomics ; 15(1): 143, 2022 06 28.
Artigo em Inglês | MEDLINE | ID: mdl-35761395

RESUMO

BACKGROUND: Most colorectal cancers (CRC) arise from precursor lesions. This study aimed to characterize the mutation profile of colorectal cancer precursor lesions in a Brazilian population. METHODS: In total, 90 formalin-fixed paraffin-embedded colorectal precursor lesions, including 67 adenomas, 7 sessile serrated lesions, and 16 hyperplastic polyps, were analyzed by next-generation sequencing using a panel of 50 oncogenes and tumor suppressor genes. The genetic ancestry of the patients was estimated. RESULTS: Somatic driver mutations were identified in 66.7% of cases, including alterations in APC (32.2%), TP53 (20.0%), KRAS (18.9%), BRAF (13.3%) and EGFR (7.8%). Adenomas displayed a higher number of mutations, mainly in APC, compared to serrated polyps (73.1% vs. 47.8%, p = 0.026). Advanced adenomas had a significantly higher frequency of mutation in KRAS and a high overall mutation rate than early adenomas (92.9% vs. 59%, p = 0.006). A high degree of ancestry admixture was observed in the population studied, with a predominance of European components (mean of 73%) followed by African (mean of 11.3%). No association between genetic ancestry and type of lesions was found. The mutation profile of Brazilian colorectal precursor lesions exhibits alteration in APC, KRAS, TP53, and BRAF at different frequencies according to lesion type. CONCLUSIONS: These results bestow the knowledge of CRC's biologic history and support the potential of these biomarkers for precursor lesions detection in CRC screening of the Brazilian population.


Assuntos
Adenoma , Pólipos do Colo , Neoplasias Colorretais , Adenoma/genética , Adenoma/patologia , Pólipos do Colo/genética , Pólipos do Colo/patologia , Neoplasias Colorretais/genética , Neoplasias Colorretais/patologia , Humanos , Mutação , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas p21(ras)/genética
11.
Genes (Basel) ; 13(7)2022 07 12.
Artigo em Inglês | MEDLINE | ID: mdl-35886015

RESUMO

The Caqueteño Creole (CAQ) is a native breed of cattle from the Caquetá department (Colombia), adapted to tropical conditions, which is extremely important to production systems in those regions. However, CAQ is poorly studied. In this sense, population structure studies associated with runs of homozygosity (ROH) analysis would allow for a better understanding of CAQ. Through ROH analysis, it is possible to reveal genetic relationships between individuals, measure genome inbreeding levels, and identify regions associated with traits of economic interest. Samples from a CAQ population (n = 127) were genotyped with the Bovine HD BeadChip (777,000 SNPs) and analyzed with the PLINK 1.9 program to estimate FROH and ROH islands. We highlighted a decrease in inbreeding frequency for FROH 4−8 Mb, 8−16 Mb, and >16 Mb classes, indicating inbreeding control in recent matings. We also found genomic hotspot regions on chromosomes 3, 5, 6, 8, 16, 20, and 22, where chromosome 20 harbored four hotspots. Genes in those regions were associated with fertility and immunity traits, muscle development, and environmental resistance, which may be present in the CAQ breed due to natural selection. This indicates potential for production systems in tropical regions. However, further studies are necessary to elucidate the CAQ production objective.


Assuntos
Genoma , Endogamia , Animais , Bovinos/genética , Colômbia , Genoma/genética , Genômica , Homozigoto
12.
BMC Sports Sci Med Rehabil ; 14(1): 22, 2022 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-35135608

RESUMO

BACKGROUND: To investigate the time-course effects of a self-regulated training session (performed at an rating perceived exertion of 6/10), all-out session, and a control session on the metabolic, hormonal, and brain derived neurotrophic factor (BDNF) responses in Functional-Fitness (FFT) participants. METHODS: In a randomized, crossover fashion, eight healthy males (age 28.1 ± 5.4 years old; body mass 77.2 ± 4.4 kg; VO2max: 52.6 ± 4.6 mL.(kg.min)-1; 2000 m rowing test 7.35 ± 0.18 min; 1RM back squat 135.6 ± 21.9 kg) performed a FFT session under two different conditions: all-out, or with the intensity controlled to elicit an rating perceived exertion (RPE) of 6 in the Borg 10-point scale (RPE6). A control session (no exercise) was also completed. Metabolic (lactate and creatine kinase), hormonal (testosterone and cortisol), and BDNF responses were assessed pre, post-0 h, 1 h, 2 h and 24 h after the sessions. RESULTS: Creatine kinase concentrations were significantly higher (p ≤ 0.05) after 24 h for both training sessions. Total and free testosterone concentrations were lower post-2 h for all-out when compared to the RPE6 session (p ≤ 0.05). Serum cortisol concentration increased post-0 h (p = 0.011) for RPE6 and post-0 h (p = 0.003) and post-1 h (p = 0.030) for all-out session when comparing to baseline concentrations. BDNF was significantly higher (p = 0.002) post-0 h only for the all-out session when compared to baseline. A positive correlation between blood lactate concentrations and BDNF (r = 0.51; p = 0.01) was found for both effort interventions. CONCLUSIONS: A single FFT session when performed in all-out format acutely increases the concentrations of serum BDNF. However, physiological stress markers show that the all-out session requires a longer recovery period when compared to the RPE6 protocol. These findings can be helpful to coaches and practitioners design FFT session.

13.
Front Oncol ; 12: 932957, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35957908

RESUMO

Purpose: There is a significant lack of epidemiological data on hereditary cancer in Northeast Brazil. This is the largest study on the prevalence and mutational spectrum of cancer predisposition genes conducted in this region and the first in the State of Ceará. Methods: Patients ≥18 years of age that were referred to CHANCE (Grupo de Câncer Hereditário do Ceará) from March 2014 to December 2020 with testing criteria for breast cancer susceptibility genes according to NCCN v.1.2021 were eligible to participate. The inclusion of patients was limited to one individual per family and to those born in the State of Ceará. All patients underwent a hereditary cancer panel testing with at least 30 genes. Results: A total of 355 patients were included, and 97 (27.3%) carried a P/LP germline variant in 18 different genes. Among the 97 P/LP carriers, BRCA1 (31, 31.9%) and BRCA2 (25, 25.7%) were the most frequently mutated genes, followed by PALB2 (10, 10.3%), CHEK2 (7, 7.2%) and ATM (4, 4.1%). A small number of recurrent variants (detected in three or more individuals) in BRCA1, BRCA2, CHEK2 and ATM represented the majority of the P/LP variants described in this cohort. Conclusion: In this cohort, the prevalence of L/PL was high, particularly involving the BRCA1, BRCA2, PALB2, CHEK2 and ATM genes and, to a lesser extent than expected, the TP53 gene. A high frequency of recurrent variants was also observed, for which further and larger analyses should clarify the presence of any possible founder effect. Characterizing the mutational profile of cancer predisposition genes in diverse populations may contribute to cancer prevention and therapeutic management.

14.
Sci Rep ; 12(1): 15149, 2022 09 07.
Artigo em Inglês | MEDLINE | ID: mdl-36071135

RESUMO

Phishing is an attack characterized by attempted fraud against users. The attacker develops a malicious page that is a trusted environment, inducing its victims to submit sensitive data. There are several platforms, such as PhishTank and OpenPhish, that maintain databases on malicious pages to support anti-phishing solutions, such as, for example, block lists and machine learning. A problem with this scenario is that many of these databases are disorganized, inconsistent, and have some limitations regarding integrity and balance. In addition, because phishing is so volatile, considerable effort is put into preserving temporal information from each malicious page. To contribute, this article built a phishing database with consistent and balanced data, temporal information, and a significant number of occurrences, totaling 942,471 records over the 5 years between 2016 and 2021. Of these records, 135,542 preserve the page's source code, 258,416 have the attack target brand detected, 70,597 have the hosting service identified, and 15,008 have the shortener service discovered. Additionally, 123,285 records store WHOIS information of the domain registered in 2021. The data is available on the website https://piracema.io/repository.


Assuntos
Segurança Computacional , Software , Bases de Dados Factuais , Fraude , Confiança
15.
Cancers (Basel) ; 14(17)2022 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-36077770

RESUMO

Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, characterized by germline pathogenic variants in mismatch repair (MMR)-related genes that lead to microsatellite instability. Patients who meet the clinical criteria for LS and MMR deficiency and without any identified germline pathogenic variants are frequently considered to have Lynch-like syndrome (LLS). These patients have a higher risk of CRC and extracolonic tumors, and little is known about their underlying genetic causes. We investigated the germline spectrum of LLS patients through whole-exome sequencing (WES). A total of 20 unrelated patients with MMR deficiency who met the clinical criteria for LS and had no germline variant were subjected to germline WES. Variant classification was performed according to the American College of Medical Genetics and Genomics (ACMG) criteria. Pathogenic/likely pathogenic variants were identified in 35% of patients in known cancer genes such as MUTYH and ATM. Besides this, rare and potentially pathogenic variants were identified in the DNA repair gene POLN and other cancer-related genes such as PPARG, CTC1, DCC and ALPK1. Our study demonstrates the germline mutational status of LLS patients, a population at high risk of colorectal cancer.

16.
Artigo em Inglês | MEDLINE | ID: mdl-36078774

RESUMO

The aim was to identify whether 16 weeks of combined training (Training) reduces blood pressure of hypertensive older adults and what the key fitness, hemodynamic, autonomic, inflammatory, oxidative, glucose and/or lipid mediators of this intervention would be. Fifty-two individuals were randomized to either 16 weeks of Training or control group who remained physically inactive (Control). Training included walking/running at 63% of V˙O2max, three times per week, and strength training, consisting of one set of fifteen repetitions (seven exercises) at moderate intensity, twice per week. Both groups underwent a comprehensive health assessment at baseline (W0) and every four weeks, for 16 weeks total. p-value ≤ 0.05 was set as significant. Training did not reduce blood pressure. It increased V˙O2max after eight weeks and again after 16 weeks (~18%), differently from the Control group. At 16 weeks, Training increased strength (~8%), slightly reduced body mass (~1%), and reduced the number of individuals with metabolic syndrome (~7%). No other changes were observed (heart rate, carotid compliance, body composition, glycemic and lipid profile, inflammatory markers and oxidative profile, vasoactive substances, heart rate variability indices). Although Training increased cardiorespiratory fitness and strength, Training was able to reduce neither blood pressure nor a wide range of mediators in hypertensive older adults, suggesting other exercise interventions might be necessary to improve overall health in this population. The novelty of this study was the time-course characterization of Training effects, surprisingly demonstrating stability among a comprehensive number of health outcomes in hypertensive older adults, including blood pressure.


Assuntos
Aptidão Cardiorrespiratória , Hipertensão , Treinamento Resistido , Idoso , Aptidão Cardiorrespiratória/fisiologia , Exercício Físico/fisiologia , Humanos , Hipertensão/terapia , Lipídeos
17.
Front Public Health ; 10: 900077, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35719644

RESUMO

Arboviruses are a group of diseases that are transmitted by an arthropod vector. Since they are part of the Neglected Tropical Diseases that pose several public health challenges for countries around the world. The arboviruses' dynamics are governed by a combination of climatic, environmental, and human mobility factors. Arboviruses prediction models can be a support tool for decision-making by public health agents. In this study, we propose a systematic literature review to identify arboviruses prediction models, as well as models for their transmitter vector dynamics. To carry out this review, we searched reputable scientific bases such as IEE Xplore, PubMed, Science Direct, Springer Link, and Scopus. We search for studies published between the years 2015 and 2020, using a search string. A total of 429 articles were returned, however, after filtering by exclusion and inclusion criteria, 139 were included. Through this systematic review, it was possible to identify the challenges present in the construction of arboviruses prediction models, as well as the existing gap in the construction of spatiotemporal models.


Assuntos
Infecções por Arbovirus/virologia , Arbovírus/classificação , Vetores Artrópodes/classificação , Aprendizado de Máquina , Doenças Negligenciadas/virologia , Saúde Pública/métodos , Animais , Infecções por Arbovirus/epidemiologia , Infecções por Arbovirus/transmissão , Arbovírus/patogenicidade , Arbovírus/fisiologia , Vetores Artrópodes/virologia , Humanos , Aprendizado de Máquina/normas , Aprendizado de Máquina/tendências , Modelos Estatísticos , Doenças Negligenciadas/epidemiologia , Saúde Pública/tendências
18.
J Biomol Struct Dyn ; 40(22): 11948-11967, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34463205

RESUMO

The disease caused by the new type of coronavirus, Covid-19, has posed major public health challenges for many countries. With its rapid spread, since the beginning of the outbreak in December 2019, the disease transmitted by SARS-CoV-2 has already caused over 2 million deaths to date. In this work, we propose a web solution, called Heg.IA, to optimize the diagnosis of Covid-19 through the use of artificial intelligence. Our system aims to support decision-making regarding to diagnosis of Covid-19 and to the indication of hospitalization on regular ward, semi-ICU or ICU based on decision a Random Forest architecture with 90 trees. The main idea is that healthcare professionals can insert 41 hematological parameters from common blood tests and arterial gasometry into the system. Then, Heg.IA will provide a diagnostic report. The system reached good results for both Covid-19 diagnosis and to recommend hospitalization. For the first scenario we found average results of accuracy of 92.891%±0.851, kappa index of 0.858 ± 0.017, sensitivity of 0.936 ± 0.011, precision of 0.923 ± 0.011, specificity of 0.921 ± 0.012 and area under ROC of 0.984 ± 0.003. As for the indication of hospitalization, we achieved excellent performance of accuracies above 99% and more than 0.99 for the other metrics in all situations. By using a computationally simple method, based on the classical decision trees, we were able to achieve high diagnosis performance. Heg.IA system may be a way to overcome the testing unavailability in the context of Covid-19.Communicated by Ramaswamy H. Sarma.


Assuntos
COVID-19 , Humanos , COVID-19/diagnóstico , SARS-CoV-2 , Teste para COVID-19 , Algoritmo Florestas Aleatórias , Inteligência Artificial , Testes Hematológicos
19.
Sci Rep ; 11(1): 20596, 2021 10 18.
Artigo em Inglês | MEDLINE | ID: mdl-34663841

RESUMO

Esophageal cancer is an aggressive tumor that has a high rate of incidence and mortality worldwide. It is the 10th most frequent type in Brazil, being squamous cell carcinoma (ESCC) the predominant subtype. There is currently an incessant search to identify the frequently altered genes associated with esophageal squamous cell carcinoma biology that could be druggable. This study aimed to analyze the somatic mutation profile of a large panel of cancer-related genes in Brazilian ESCC. In a series of 46 ESCC diagnoses at Barretos Cancer Hospital, DNA isolated from paired fresh-frozen and blood tissue, a panel of 150 cancer-related genes was analyzed by next-generation sequencing. The genes with the highest frequency of mutations were TP53 (39/46, 84.8%), followed by NOTCH1 (7/46, 15.2%), NFE2L2 (5/46, 10.8%), RB1 (3/46, 6.5%), PTEN (3/46, 6.5%), CDKN2A (3/46, 6.5%), PTCH1 (2/46, 4.3%) and PIK3CA (2/46, 4.3%). There was no significant association between molecular and patients' clinicopathological features. Applying an evolutionary action score of p53 (EAp53), we observed that 14 (35.9%) TP53 mutations were classified as high-risk, yet no association with overall survival was observed. Concluding, this the largest mutation profile of Brazilian ESCC patients, which helps in the elucidation of the major cancer-related genes in this population.


Assuntos
Carcinoma de Células Escamosas do Esôfago/epidemiologia , Carcinoma de Células Escamosas do Esôfago/genética , Transcriptoma/genética , Adulto , Idoso , Biomarcadores Tumorais/genética , Brasil/epidemiologia , Carcinoma de Células Escamosas/patologia , Neoplasias Esofágicas/patologia , Feminino , Expressão Gênica/genética , Perfilação da Expressão Gênica/métodos , Regulação Neoplásica da Expressão Gênica/genética , Genômica/métodos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética
20.
Front Public Health ; 9: 754072, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34778187

RESUMO

Mosquito surveillance is a crucial process for understanding the population dynamics of mosquitoes, as well as implementing interventional programs for controlling and preventing the spread of mosquito-borne diseases. Environmental surveillance agents who performing routine entomological surveys at properties in areas where mosquito-borne diseases are endemic play a critical role in vector surveillance by searching and destroying mosquito hotspots as well as collate information on locations with increased infestation. Currently, the process of recording information on paper-based forms is time-consuming and painstaking due to manual effort. The introduction of mobile surveillance applications will therefore improve the process of data collection, timely reporting, and field worker performance. Digital-based surveillance is critical in reporting real-time data; indeed, the real-time capture of data with phones could be used for predictive analytical models to predict mosquito population dynamics, enabling early warning detection of hotspots and thus alerting fieldworker agents into immediate action. This paper describes the development of a cross-platform digital system for improving mosquito surveillance in Brazil. It comprises of two components: a dashboard for managers and a mobile application for health agents. The former enables managers to assign properties to health workers who then survey them for mosquitoes and to monitor the progress of inspection visits in real-time. The latter, which is primarily designed as a data collection tool, enables the environmental surveillance agents to act on their assigned tasks of recording the details of the properties at inspections by filling out digital forms built into the mobile application, as well as details relating to mosquito infestation. The system presented in this paper was co-developed with significant input with environmental agents in two Brazilian cities where it is currently being piloted.


Assuntos
Culicidae , Aplicativos Móveis , Animais , Brasil , Entomologia , Humanos , Mosquitos Vetores
SELEÇÃO DE REFERÊNCIAS
Detalhe da pesquisa