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1.
Environ Res ; 259: 119551, 2024 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-38977157

RESUMO

BACKGROUND: There were controversial findings in terms of the association between the incidence of Benign Paroxysmal Positional Vertigo (BPPV) and climate changes, so the current systematic review plus meta-analysis is designed to discover this possible relationship. METHODS: Web of science, PubMed, Scopus, Google Scholar, Embase, and Cochrane library were systematically searched up to August 2023. The Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) and Problem/Population, Intervention, Comparison, and Outcome (PICO) guidelines were used. Two authors independently reviewed the eligible articles and assessed the quality of them. RESULTS: In total, 15 studies including 16144 patients met the inclusion criteria. Ten studies reported the relation of BPPV to monthly mean temperature, 7 to monthly average humidity, 4 to monthly average rainfall, 6 to monthly sunlight time, and 2 to average solar radiation. The incidence of BPPV was associated significantly with atmospheric pressure (P: 0.003) and rainfall (P: 0.017). However, there was not any statistically significant correlation between incidence of BPPV and humidity, sunlight time, temperature, and solar radiation level (P > 0.05). CONCLUSIONS: The incidence of BPPV was higher in cold months of a year in both northern hemisphere and southern hemisphere countries. Although it can be because of negative correlation with temperature, the current meta-analysis did not find any statistically significant negative correlation with temperature. In addition, the incidence of BPPV was associated significantly with atmospheric pressure (positive correlation) and rainfall (negative correlation).

2.
PeerJ ; 12: e17462, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38827302

RESUMO

Cytokinin oxidase/dehydrogenase (CKX), responsible for irreversible cytokinin degradation, also controls plant growth and development and response to abiotic stress. While the CKX gene has been studied in other plants extensively, its function in cotton is still unknown. Therefore, a genome-wide study to identify the CKX gene family in the four cotton species was conducted using transcriptomics, quantitative real-time PCR (qRT-PCR) and bioinformatics. As a result, in G. hirsutum and G. barbadense (the tetraploid cotton species), 87 and 96 CKX genes respectively and 62 genes each in G. arboreum and G. raimondii, were identified. Based on the evolutionary studies, the cotton CKX gene family has been divided into five distinct subfamilies. It was observed that CKX genes in cotton have conserved sequence logos and gene family expansion was due to segmental duplication or whole genome duplication (WGD). Collinearity and multiple synteny studies showed an expansion of gene families during evolution and purifying selection pressure has been exerted. G. hirsutum CKX genes displayed multiple exons/introns, uneven chromosomal distribution, conserved protein motifs, and cis-elements related to growth and stress in their promoter regions. Cis-elements related to resistance, physiological metabolism and hormonal regulation were identified within the promoter regions of the CKX genes. Expression analysis under different stress conditions (cold, heat, drought and salt) revealed different expression patterns in the different tissues. Through virus-induced gene silencing (VIGS), the GhCKX34A gene was found to improve cold resistance by modulating antioxidant-related activity. Since GhCKX29A is highly expressed during fibre development, we hypothesize that the increased expression of GhCKX29A in fibres has significant effects on fibre elongation. Consequently, these results contribute to our understanding of the involvement of GhCKXs in both fibre development and response to abiotic stress.


Assuntos
Regulação da Expressão Gênica de Plantas , Gossypium , Oxirredutases , Estresse Fisiológico , Gossypium/genética , Estresse Fisiológico/genética , Oxirredutases/genética , Oxirredutases/metabolismo , Fibra de Algodão , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Família Multigênica , Filogenia , Genoma de Planta/genética
3.
PLoS One ; 19(5): e0303783, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38787845

RESUMO

Potato is considered a key component of the global food system and plays a vital role in strengthening world food security. A major constraint to potato production worldwide is the Potato Virus Y (PVY), belonging to the genus Potyvirus in the family of Potyviridae. Selective breeding of potato with resistance to PVY pathogens remains the best method to limit the impact of viral infections. Understanding the genetic diversity and population structure of potato germplasm is important for breeders to improve new cultivars for the sustainable use of genetic materials in potato breeding to PVY pathogens. While, genetic diversity improvement in modern potato breeding is facing increasingly narrow genetic basis and the decline of the genetic diversity. In this research, we performed genotyping-by-sequencing (GBS)-based diversity analysis on 10 commercial potato cultivars and weighted gene co-expression network analysis (WGCNA) to identify candidate genes related to PVY-resistance. WGCNA is a system biology technique that uses the WGCNA R software package to describe the correlation patterns between genes in multiple samples. In terms of consumption, these cultivars are a high rate among Iranian people. Using population structure analysis, the 10 cultivars were clustered into three groups based on the 118343 single nucleotide polymorphisms (SNPs) generated by GBS. Read depth ranged between 5 and 18. The average data size and Q30 of the reads were 145.98 Mb and 93.63%, respectively. Based on the WGCNA and gene expression analysis, the StDUF538, StGTF3C5, and StTMEM161A genes were associated with PVY resistance in the potato genome. Further, these three hub genes were significantly involved in defense mechanism where the StTMEM161A was involved in the regulation of alkalization apoplast, the StDUF538 was activated in the chloroplast degradation program, and the StGTF3C5 regulated the proteins increase related to defense in the PVY infected cells. In addition, in the genetic improvement programs, these hub genes can be used as genetic markers for screening commercial cultivars for PVY resistance. Our survey demonstrated that the combination of GBS-based genetic diversity germplasm analysis and WGCNA can assist breeders to select cultivars resistant to PVY as well as help design proper crossing schemes in potato breeding.


Assuntos
Doenças das Plantas , Potyvirus , Solanum tuberosum , Solanum tuberosum/virologia , Solanum tuberosum/genética , Potyvirus/genética , Doenças das Plantas/virologia , Doenças das Plantas/genética , Resistência à Doença/genética , Redes Reguladoras de Genes , Regulação da Expressão Gênica de Plantas , Genótipo , Polimorfismo de Nucleotídeo Único , Técnicas de Genotipagem/métodos , Melhoramento Vegetal/métodos , Genes de Plantas
4.
BMC Plant Biol ; 24(1): 468, 2024 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-38811873

RESUMO

BACKGROUND: The cuticular wax serves as a primary barrier that protects plants from environmental stresses. The Eceriferum (CER) gene family is associated with wax production and stress resistance. RESULTS: In a genome-wide identification study, a total of 52 members of the CER family were discovered in four Gossypium species: G. arboreum, G. barbadense, G. raimondii, and G. hirsutum. There were variations in the physicochemical characteristics of the Gossypium CER (GCER) proteins. Evolutionary analysis classified the identified GCERs into five groups, with purifying selection emerging as the primary evolutionary force. Gene structure analysis revealed that the number of conserved motifs ranged from 1 to 15, and the number of exons varied from 3 to 13. Closely related GCERs exhibited similar conserved motifs and gene structures. Analyses of chromosomal positions, selection pressure, and collinearity revealed numerous fragment duplications in the GCER genes. Additionally, nine putative ghr-miRNAs targeting seven G. hirsutum CER (GhCER) genes were identified. Among them, three miRNAs, including ghr-miR394, ghr-miR414d, and ghr-miR414f, targeted GhCER09A, representing the most targeted gene. The prediction of transcription factors (TFs) and the visualization of the regulatory TF network revealed interactions with GhCER genes involving ERF, MYB, Dof, bHLH, and bZIP. Analysis of cis-regulatory elements suggests potential associations between the CER gene family of cotton and responses to abiotic stress, light, and other biological processes. Enrichment analysis demonstrated a robust correlation between GhCER genes and pathways associated with cutin biosynthesis, fatty acid biosynthesis, wax production, and stress response. Localization analysis showed that most GCER proteins are localized in the plasma membrane. Transcriptome and quantitative reverse transcription-polymerase chain reaction (qRT-PCR) expression assessments demonstrated that several GhCER genes, including GhCER15D, GhCER04A, GhCER06A, and GhCER12D, exhibited elevated expression levels in response to water deficiency stress compared to control conditions. The functional identification through virus-induced gene silencing (VIGS) highlighted the pivotal role of the GhCER04A gene in enhancing drought resistance by promoting increased tissue water retention. CONCLUSIONS: This investigation not only provides valuable evidence but also offers novel insights that contribute to a deeper understanding of the roles of GhCER genes in cotton, their role in adaptation to drought and other abiotic stress and their potential applications for cotton improvement.


Assuntos
Secas , Gossypium , Família Multigênica , Proteínas de Plantas , Gossypium/genética , Gossypium/fisiologia , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Regulação da Expressão Gênica de Plantas , Estresse Fisiológico/genética , Genes de Plantas , Filogenia , Adaptação Fisiológica/genética , Ceras/metabolismo , MicroRNAs/genética
5.
PLoS One ; 19(4): e0301629, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38573987

RESUMO

In our ongoing project, which focuses on the introgression of Booroola/FecB gene and the myostatin (MSTN) gene into purebred Moghani sheep, we assessed the performance of second-generation Moghani crossbreds such as second crossbreds (F2) and initial backcross generation (BC1). These crossbreds were generated through different mating systems, including in-breeding, outcrossing, first paternal backcrossing (PBC1), and first maternal backcrossing (MBC1). Notably, F2 strains exhibited lean tail, woolly fleece and a higher percentage of white coat color compared to BC1. The impact of mating systems and birth types on pre-weaning survival rates was found to be statistically significant (P < 0.0001), with singleton offspring resulting from paternal backcross showing a particularly substantial effect. The F2 crossbred lambs carrying the Booroola gene did not show a statistically significant difference in survivability compared to those carrying the MSTN gene, implying the Booroola prolificacy gene had no significant impact on survival outcomes. However, the occurrence of multiple births had a significant negative impact on lamb survival (P < 0.0001). The PBC1 sheep strains, specifically Texel Tamlet ram strains carrying the MSTN mutation, exhibited superior growth rates compared to others (P < 0.05). Interestingly, the MSTN mutation in the homozygous variant genotype significantly impacts growth rate before weaning compared to other genotypes and pure Moghani sheep (P < 0.05). In conclusion, this study objectively underscores the pivotal role of genetic factors, specifically through strategic mating systems like paternal backcrossing, in enhancing desired traits and growth rates in Moghani sheep, thereby contributing valuable insights to the field of sheep breeding programs.


Assuntos
Reprodução , Carneiro Doméstico , Gravidez , Feminino , Ovinos/genética , Animais , Masculino , Reprodução/genética , Carneiro Doméstico/genética , Genótipo , Mutação , Gravidez Múltipla
6.
Mamm Genome ; 35(2): 201-227, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38520527

RESUMO

Preserving genetic diversity is pivotal for enhancing genetic improvement and facilitating adaptive responses to selection. This study focuses on identifying key genetic variants, including single nucleotide polymorphisms (SNPs), insertion/deletion polymorphisms (INDELs), and copy number variants (CNVs), while exploring the genomic evolutionary connectedness among seven Iranian horses representing five indigenous breeds: Caspian, Turkemen, DareShuri, Kurdish, and Asil. Using whole-genome resequencing, we generated 2.7 Gb of sequence data, with raw reads ranging from 1.2 Gb for Caspian horses to 0.38 Gb for Turkoman horses. Post-filtering, approximately 1.9 Gb of reads remained, with ~ 1.5 Gb successfully mapped to the horse reference genome (EquCab3.0), achieving mapping rates between 76.4% (Caspian) and 98.35% (Turkoman). We identified 2,909,816 SNPs in Caspian horses, constituting around 0.1% of the genome. Notably, 71% of these SNPs were situated in intergenic regions, while 8.5 and 6.8% were located upstream and downstream, respectively. A comparative analysis of SNPs between Iranian and non-Iranian horse breeds showed that Caspian horses had the lowest number of shared SNPs with Turkoman horses. Instead, they showed a closer genetic relationship with DareShuri, Quarter, Arabian, Standardbred, and Asil breeds. Hierarchical clustering highlighted Caspian horses as a distinct cluster, underscoring their distinctive genomic signature. Caspian horses exhibit a unique genetic profile marked by an enrichment of private mutations in neurological genes, influencing sensory perception and awareness. This distinct genetic makeup shapes mating preferences and signifies a separate evolutionary trajectory. Additionally, significant non-synonymous single nucleotide polymorphisms (nsSNPs) in reproductive genes offer intervention opportunities for managing Caspian horses. These findings reveal the population genetic structure of Iranian horse breeds, contributing to the advancement of knowledge in areas such as conservation, performance traits, climate adaptation, reproduction, and resistance to diseases in equine science.


Assuntos
Variações do Número de Cópias de DNA , Genética Populacional , Polimorfismo de Nucleotídeo Único , Sequenciamento Completo do Genoma , Animais , Cavalos/genética , Irã (Geográfico) , Genoma , Cruzamento , Mutação INDEL
7.
Heliyon ; 10(3): e25487, 2024 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-38352779

RESUMO

Given emerging food supply challenges for the world population, Genetic Modified Organisms (GMOs) are referred to as a solution to the upcoming food security crisis. Besides technological advancement, other significant components such as public Awareness play an important role in national and international scientific regulations. Towards this, this study evaluated Tehranian consumers' Awareness (a sample including 946 respondents) about GMOs' risks and benefits, trust in governmental regulation, and the ways to obtain information about GMOs. Specific questionnaires were designed and distributed among participants in four districts in Tehran, and the collected data were used to conduct descriptive and inferential statistics by applying the ANOVA test. The Findings showed that 39 % with a p-value <0.01 of the public is unaware of GMOs in Tehran despite 20 years of commercialization, consumption, and controversial debate about GMOs in media and social networks. Therefore, the goals of public Awareness of science concerning biotechnology have not been met yet. Based on these findings, it can be concluded that public Awareness is not a crucial component in biotechnology advancement, and the other factors, including policymakers' desire, may have more weight.

8.
Sci Rep ; 14(1): 4245, 2024 02 20.
Artigo em Inglês | MEDLINE | ID: mdl-38379025

RESUMO

Cervical resorption is a serious threat to the longevity of the teeth. In this study, the Canny edge-detection algorithm was applied on CBCT images to compare the accuracy of original and Canny views for diagnosing cervical resorption in endodontically treated teeth. Intracanal metallic posts were inserted in 60 extracted teeth being randomly divided into three groups: control, 0.5 mm, and 1 mm cervical resorption. CBCT scans of the teeth were presented to three observers in both original and Canny formats with the accuracy being determined by receiver operating characteristic (ROC) analysis. The DeLong test was used for paired comparisons with the significance level set at 0.05. The highest accuracy belonged to Canny images in 1 mm resorption, followed by Canny images in 0.5 mm resorption, original images in 1 mm resorption, and original images in 0.5 mm resorption, respectively. The Canny images were significantly more accurate in the diagnosis of 0.5 mm (p < 0.001) and 1 mm (p = 0.009) resorption. Application of the Canny edge-detection algorithm could be suggested as a new technique for facilitating the diagnosis of cervical resorption in teeth that are negatively affected by metallic artifacts.


Assuntos
Reabsorção da Raiz , Tomografia Computadorizada de Feixe Cônico Espiral , Humanos , Reabsorção da Raiz/diagnóstico por imagem , Raiz Dentária , Tomografia Computadorizada de Feixe Cônico/métodos , Artefatos
9.
Gene ; 893: 147911, 2024 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-37863301

RESUMO

Sunn pest (Eurygaster integriceps Puton) is major wheat pest causing economic damage. Neuropeptides and their receptors, G protein-coupled receptors (GPCRs), are involved in the regulation of insect physiology and behavior. Herein, a transcriptome-wide analysis was conducted in order to identify genes encoding neuropeptides, and putative GPCRs to gain insight into neuropeptide-modulated processes. De novo transcriptome assembly was undertaken using paired-end sequence reads derived from RNA samples collected from whole adults and yielded 582,398 contigs. In total, 46 neuropeptides have been identified, encompassing various known insect neuropeptide families. In addition, we discovered four previously uncharacterized neuroparsin peptides, which contributes to our understanding of the neuropeptide landscape. Furthermore, 85 putative neuropeptide GPCRs were identified, comprising three classes of GPCRs, A, B, C, and LGR, of which class C is not widely reported in insects. In addition, the identified GPCRs exhibited a remarkable 80% homology with the GPCRs found in the brown marmorated stink bug. It is noteworthy that these GPCRs displayed only a 20% homology to GPCRs from many other insect species. This information may be used to understand the neuropeptide-modulated physiology and behavior of Eurygaster integriceps, and to develop specific neuropeptide-based pest management strategies.


Assuntos
Heterópteros , Neuropeptídeos , Humanos , Animais , Transcriptoma/genética , Heterópteros/genética , Neuropeptídeos/genética , Insetos/genética , Receptores Acoplados a Proteínas G/genética
10.
Environ Res ; 239(Pt 2): 117392, 2023 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-37838197

RESUMO

Recent studies have indicated that air pollution (AP) has harmful effects on hearing and ear diseases such as Sudden Sensorineural Hearing Loss (SSHL). The purpose of this study was to evaluate the impact of exposure to AP on SSHL incidence. Valid electronic databases were searched to retrieve studies published until December 1, 2022, using appropriate keywords. The result of the search was 1146 studies, and after screening according to the defined criteria, in total 8 studies were obtained. The risk of bias (ROB) in the studies and their quality were assessed. Finally, the meta-analysis with a significance level of 5% was performed. The findings revealed that the mean level of SO2, CO, NO2, and PM10 in the patient group was more than that of the control group, and p-values were 0.879, 0.144, 0.077, and 0.138, respectively. There was an indirect relation between air pollutants and SSHL, and PM2.5 showed a significant effect (p < 0.05). Given the limited research and the use of different statistical methods, more research is suggested to confirm this association and to determine the mechanisms by which AP exposure may cause SSHL.


Assuntos
Poluentes Atmosféricos , Poluição do Ar , Perda Auditiva Neurossensorial , Perda Auditiva Súbita , Humanos , Perda Auditiva Súbita/induzido quimicamente , Perda Auditiva Súbita/epidemiologia , Poluição do Ar/efeitos adversos , Poluentes Atmosféricos/toxicidade , Perda Auditiva Neurossensorial/induzido quimicamente , Perda Auditiva Neurossensorial/epidemiologia
11.
Clin Oral Investig ; 27(12): 7417-7423, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37848583

RESUMO

OBJECTIVES: The current study aimed to investigate the association of matrix metalloproteinase- (MMP-) 1, -2, -3, -7, and -13 gene polymorphisms with chronic periodontitis (CP) in an Iranian population. MATERIALS AND METHODS: In this case-control study, 87 subjects with CP and 89 periodontally healthy subjects were allocated to case and control groups, respectively. Subjects' venous blood samples (5 cc) were collected, and DNA extraction was performed. A spectrophotometer was utilized to assess the concentration of extracted DNAs. The desired gene polymorphisms were examined using restriction fragment length polymorphism polymerase chain reaction (RFLP-PCR) followed by electrophoresis. Statistical analyses were done using the Pearson Chi-Square test, odds ratio, and t-Test using SPSS Version 28. RESULTS: The MMP-1 (-1607 1G/2G) rs1799750, MMP-3 (-1171 5A/6A) rs3025058, and MMP-7 (-181 A/G) rs11568818 gene polymorphisms significantly differed between case and control groups (PV = 0.019, 0.007, and 0.028, respectively). In contrast, the gene polymorphisms of MMP-2 (-1306 C/T) rs243865 and MMP-13 (-77 A/G) rs2252070 did not make a significant difference. Regarding allele frequencies, the presence of the 2G allele in the MMP-1 (-1607) rs1799750 genotype increased the CP susceptibility significantly, while subjects with the 6A allele in their MMP-3 (-1171) rs3025058 genotype showed significantly lower susceptibility to CP (PV = 0.008 and < 0.001, respectively). CONCLUSION: In the studied population, gene polymorphisms in the DNA sequences of MMP-1 (-1607 1G/2G) rs1799750, MMP-3 (-1171 5A/6A) rs3025058, and MMP-7 (-181 A/G) rs11568818 may have impacts on CP incidence. CLINICAL RELEVANCE: Clinicians should be cautious about the association between MMP-1, MMP-3, and MMP-7 gene polymorphisms and the incidence of chronic periodontitis during periodontal treatment planning.


Assuntos
Periodontite Crônica , Humanos , Periodontite Crônica/genética , Metaloproteinase 1 da Matriz/genética , Metaloproteinase 3 da Matriz/genética , Metaloproteinase 7 da Matriz/genética , Estudos de Casos e Controles , Irã (Geográfico) , Predisposição Genética para Doença , Polimorfismo Genético/genética , Frequência do Gene , Genótipo , Alelos , Polimorfismo de Nucleotídeo Único
12.
Heart Lung Circ ; 32(10): 1178-1188, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37743220

RESUMO

BACKGROUND: There is a dearth of comprehensive studies examining the burden and trends of hypertensive heart disease (HHD) and high systolic blood pressure (SBP) among the Australian population. We aimed to explore the burden of HHD and high SBP, and how they changed over time from 1990 to 2019 in Australia. METHODS: We analysed data from the Global Burden of Disease study in Australia. We assessed the prevalence, mortality, disability-adjusted life-years (DALY), years lived with disability (YLD) and years of life lost (YLL) attributable to HHD and high SBP. Data were presented as point estimates with 95% uncertainty intervals (UI). We compared the burden of HHD and high SBP in Australia with World Bank defined high-income countries and six other comparator countries with similar sociodemographic characteristics and economies. RESULTS: From 1990 to 2019, the burden of HHD and high SBP in Australia reduced. Age standardised prevalence rate of HHD was 119.3 cases per 100,000 people (95% UI 86.6-161.0) in 1990, compared to 80.1 cases (95% UI 57.4-108.1) in 2019. Deaths due to HDD were 3.4 cases per 100,000 population (95% UI 2.6-3.8) in 1990, compared to 2.5 (95% UI 1.9-3.0) in 2019. HHD contributed to 57.2 (95% UI 46.6-64.7) DALYs per 100,000 population in 1990 compared to 38.4 (95% UI 32.0-45.2) in 2019. Death rates per 100,000 population attributable to high SBP declined significantly over time for both sexes from 1990 (155.6 cases; 95% UI 131.2-177.0) to approximately one third in 2019 (53.8 cases; 95% UI 43.4-64.4). Compared to six other countries in 2019, the prevalence of HHD was highest in the USA (274.3%) and lowest in the UK (52.6%), with Australia displaying the third highest prevalence. Australia ranked second in term of lowest rates of deaths and third for lowest DALYs respectively due to high SBP. From 1990-2019, Australia ranked third best for reductions in deaths and DALYs due to HHD and first for reductions in deaths and DALYs due to high SBP. CONCLUSION: Over the past three decades, the burden of HHD in Australia has reduced, but its prevalence remains relatively high. The contribution of high SBP to deaths, DALYs and YLLs also reduced over the three decades.


Assuntos
Carga Global da Doença , Cardiopatias , Masculino , Feminino , Humanos , Anos de Vida Ajustados por Qualidade de Vida , Pressão Sanguínea , Austrália/epidemiologia
13.
Elife ; 122023 05 30.
Artigo em Inglês | MEDLINE | ID: mdl-37249220

RESUMO

Background: A salutary effect of treatments for Gaucher disease (GD) has been a reduction in the incidence of avascular osteonecrosis (AVN). However, there are reports of AVN in patients receiving enzyme replacement therapy (ERT) , and it is not known whether it is related to individual treatments, GBA genotypes, phenotypes, biomarkers of residual disease activity, or anti-drug antibodies. Prompted by development of AVN in several patients receiving ERT, we aimed to delineate the determinants of AVN in patients receiving ERT or eliglustat substrate reduction therapy (SRT) during 20 years in a tertiary referral center. Methods: Longitudinal follow-ups of 155 GD patients between 2001 and 2021 were analyzed for episodes of AVN on therapy, type of therapy, GBA1 genotype, spleen status, biomarkers, and other disease indicators. We applied mixed-effects logistic model to delineate the independent correlates of AVN while receiving treatment. Results: The patients received cumulative 1382 years of treatment. There were 16 episodes of AVN in 14 patients, with two episodes, each occurring in two patients. Heteroallelic p.Asn409Ser GD1 patients were 10 times (95% CI, 1.5-67.2) more likely than p.Asn409Ser homozygous patients to develop osteonecrosis during treatment. History of AVN prior to treatment initiation was associated with 4.8-fold increased risk of AVN on treatment (95% CI, 1.5-15.2). The risk of AVN among patients receiving velaglucerase ERT was 4.68 times higher compared to patients receiving imiglucerase ERT (95% CI, 1.67-13). No patient receiving eliglustat SRT suffered AVN. There was a significant correlation between GlcSph levels and AVN. Together, these biomarkers reliably predicted risk of AVN during therapy (ROC AUC 0.894, p<0.001). Conclusions: There is a low, but significant risk of AVN in GD in the era of ERT/SRT. We found that increased risk of AVN was related to GBA genotype, history of AVN prior to treatment initiation, residual serum GlcSph level, and the type of ERT. No patient receiving SRT developed AVN. These findings exemplify a new approach to biomarker applications in a rare inborn error of metabolism to evaluate clinical outcomes in comprehensively followed patients and will aid identification of GD patients at higher risk of AVN who will benefit from closer monitoring and treatment optimization. Funding: LSD Training Fellowship from Sanofi to MB.


Assuntos
Doença de Gaucher , Osteonecrose , Humanos , Doença de Gaucher/complicações , Doença de Gaucher/tratamento farmacológico , Doença de Gaucher/genética , Centros de Atenção Terciária , Biomarcadores/metabolismo , Osteonecrose/complicações , Osteonecrose/epidemiologia , Medição de Risco
14.
BMC Genomics ; 24(1): 152, 2023 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-36973662

RESUMO

BACKGROUND: The mechanisms underlying rice root responses to drought during the early developmental stages are yet unknown. RESULTS: This study aimed to determine metabolic differences in IR64, a shallow-rooting, drought-susceptible genotype, and Azucena, a drought-tolerant and deep-rooting genotype under drought stress. The morphological evaluation revealed that Azucena might evade water stress by increasing the lateral root system growth, the root surface area, and length to access water. At the same time, IR64 may rely mainly on cell wall thickening to tolerate stress. Furthermore, significant differences were observed in 49 metabolites in IR64 and 80 metabolites in Azucena, for which most metabolites were implicated in secondary metabolism, amino acid metabolism, nucleotide acid metabolism and sugar and sugar alcohol metabolism. Among these metabolites, a significant positive correlation was found between allantoin, galactaric acid, gluconic acid, glucose, and drought tolerance. These metabolites may serve as markers of drought tolerance in genotype screening programs. Based on corresponding biological pathways analysis of the differentially abundant metabolites (DAMs), biosynthesis of alkaloid-derivatives of the shikimate pathway, fatty acid biosynthesis, purine metabolism, TCA cycle and amino acid biosynthesis were the most statistically enriched biological pathway in Azucena in drought response. However, in IR64, the differentially abundant metabolites of starch and sucrose metabolism were the most statistically enriched biological pathways. CONCLUSION: Metabolic marker candidates for drought tolerance were identified in both genotypes. Thus, these markers that were experimentally determined in distinct metabolic pathways can be used for the development or selection of drought-tolerant rice genotypes.


Assuntos
Resistência à Seca , Oryza , Oryza/metabolismo , Redes e Vias Metabólicas , Secas , Genótipo , Aminoácidos/metabolismo , Estresse Fisiológico/genética , Regulação da Expressão Gênica de Plantas
15.
Work ; 75(3): 849-857, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36683520

RESUMO

BACKGROUND: Workplace inspections are applied to facilitate the adherence to the occupational health and safety regulations. The Iranian Ministry of Health introduced a new software system for tablets to inspect workplaces. OBJECTIVES: The aim of this study was to take measurements of the usability, mental workload, and mood of inspectors. METHODS: Inspectors used both pen-and-paper and tablet methods to inspect the automotive industry in a mixed-method procedure. The NASA-TLX score, QUIS score, I-PANAS (SF) situation, inspection time, and number of errors were collected throughout the procedure. The differences were investigated using a paired sample and the Wilcoxon signed ranks test. RESULTS: In terms of efficacy, using the tablet resulted in lower error rates, but it took longer to complete the inspection task (P < 0.001). Participants perceived a lower workload when inspecting with a tablet rather than the traditional method. (Mental Demand: p < 0.002, Performance: p < 0.009, Effort: p < 0.012, TLX: p < 0.002 based on various subcomponents of NASA-TLX). The newly introduced system's usability was insufficient. CONCLUSION: Although the use of tablets has improved safety inspections, ergonomic redesign of the system and consideration of a user-centered approach, as well as inspector training, can make the system more likely to succeed.


Assuntos
Ergonomia , Carga de Trabalho , Humanos , Irã (Geográfico) , Software , Eletrônica , Análise e Desempenho de Tarefas
16.
Anim Biotechnol ; 34(8): 3495-3506, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36633454

RESUMO

This study aimed to compare growth performance between Moghani sheep and crossbred lambs resulting from crossbreeding between Moghani pure breed ewes and the lines of rams e.g., Texel Tamlet, Texel Dalzell, Booroola Merino, and Booroola Romney. The first visible phenotypic characteristic was the presence of lean tail in all F1 crossbred lambs, whereas Moghani pure sheep is a well-known large fat-tailed breed. Moreover, the first generation of backcross (BC1) lambs from mating four types of F1 crossbred rams with Moghani pure ewes revealed lean-tailed to short fat-tailed. Comparative results showed that the F1 crossbred lambs had significantly (p < 0.0001) greater birth weight (BW) than the Moghani pure breed lambs. Despite no significant differences observed between Moghani pure breed sheep and its F1 crossbred lambs for body weight at pre-weaning, but F1 crossbred lambs achieved significantly (p < 0.0001) greater body weight after weaning compared to Moghani sheep. The growth performance of BC1 lambs was outperformed than F1 crossbred and Moghani sheep. These results encourage the continuation of the Moghani sheep crossbreeding programs to improve overall lamb growth, particularly post-weaning and to benefit from a better reproductive efficiency by elimination or reduction of the fat tail.


Assuntos
Reprodução , Carneiro Doméstico , Ovinos/genética , Animais , Feminino , Masculino , Reprodução/genética , Carneiro Doméstico/genética , Hibridização Genética , Estações do Ano , Peso Corporal/genética , Cruzamentos Genéticos
17.
Int J Mol Sci ; 23(23)2022 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-36499756

RESUMO

The hydrangea (Hydrangea macrophylla (Thunb). Ser.), an ornamental plant, has good marketing potential and is known for its capacity to change the colour of its inflorescence depending on the pH of the cultivation media. The molecular mechanisms causing these changes are still uncertain. In the present study, transcriptome and targeted metabolic profiling were used to identify molecular changes in the RNAome of hydrangea plants cultured at two different pH levels. De novo assembly yielded 186,477 unigenes. Transcriptomic datasets provided a comprehensive and systemic overview of the dynamic networks of the gene expression underlying flower colour formation in hydrangeas. Weighted analyses of gene co-expression network identified candidate genes and hub genes from the modules linked closely to the hyper accumulation of Al3+ during different stages of flower development. F3'5'H, ANS, FLS, CHS, UA3GT, CHI, DFR, and F3H were enhanced significantly in the modules. In addition, MYB, bHLH, PAL6, PAL9, and WD40 were identified as hub genes. Thus, a hypothesis elucidating the colour change in the flowers of Al3+-treated plants was established. This study identified many potential key regulators of flower pigmentation, providing novel insights into the molecular networks in hydrangea flowers.


Assuntos
Hydrangea , Hydrangea/genética , Hydrangea/química , Perfilação da Expressão Gênica , Flores/metabolismo , Transcriptoma , Pigmentação/genética , Concentração de Íons de Hidrogênio , Regulação da Expressão Gênica de Plantas , Antocianinas/metabolismo
18.
Sci Rep ; 12(1): 19647, 2022 11 16.
Artigo em Inglês | MEDLINE | ID: mdl-36385492

RESUMO

Implant fracture is a rare but devastating complication of treatment in partially or fully edentulous patients which requires prompt diagnosis. Nevertheless, studies on defining the most accurate technique for the detection of implant fractures are lacking. In the present study, the Canny edge detection algorithm was applied on multiple radiographic modalities including parallel periapical (PPA), oblique periapical (OPA), and cone beam CT (CBCT) with and without metal artifact reduction (MAR) to examine its accuracy for diagnosis of simulated implant fractures. Radiographs were taken from 24 intact implants and 24 implants with artificially created fractures. Images were evaluated in their original and Canny formats. The accuracy of each radiograph was assessed by comparison with a reference standard of direct observation of the implant. The greatest area under the receiver operating characteristic curve belonged to Canny CBCT with MAR (0.958), followed by original CBCT with MAR (0.917), original CBCT without MAR = Canny CBCT without MAR = Canny OPA (0.875), Canny PPA (0.833), original PPA = original OPA (0.792), respectively. The Canny edge detection algorithm is suggested as an innovative method for accurate diagnosis of clinically suspected implant fractures on CBCT and periapical radiographies.


Assuntos
Tomografia Computadorizada de Feixe Cônico , Fraturas Ósseas , Humanos , Próteses e Implantes , Curva ROC
19.
Mol Biol Rep ; 49(12): 11983-11996, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36271979

RESUMO

BACKGROUND: Plant organelles are highly motile where their movement is significant for fast distribution of material around the cell, facilitation of the plant's ability to respond to abiotic and biotic signals, and for appropriate growth. Abiotic and biotic stresses are among the major factors limiting crop yields, and biological membranes are the first target of these stresses. Plants utilize adaptive mechanisms namely myosin to repair injured membranes following exposure to abiotic and biotic stresses. OBJECTIVE: Due to the economic importance and cultivation of potato grown under abiotic and biotic stress prone areas, identification and characterization of myosin family members in potato were performed in the present research. METHODS: To identify the myosin genes in potato, we performed genome-wide analysis of myosin genes in the S. tuberosum genome using the phytozome. All putative sequences were approved with the interproscan. Bioinformatics analysis was conducted using phylogenetic tree, gene structure, cis-regulatory elements, protein-protein interaction, and gene expression. RESULT: The majority of the cell machinery contain actin cytoskeleton and myosins, where motility of organelles are dependent on them. Homology-based analysis was applied to determine seven myosin genes in the potato genome. The members of myosin could be categorized into two groups (XI and VIII). Some of myosin proteins were sub-cellularly located in the nucleus containing 71.5% of myosin proteins and other myosin proteins were localized in the mitochondria, plasma-membrane, and cytoplasm. Determination of co-expressed network, promoter analysis, and gene structure were also performed and gene expression pattern of each gene was surveyed. Number of introns in the gene family members varied from 1 to 39. Gene expression analysis demonstrated that StMyoXI-B and StMyoVIII-2 had the highest transcripts, induced by biotic and abiotic stresses in all three tissues of stem, root, and leaves, respectively. Overall, different cis-elements including abiotic and biotic responsive, hormonal responsive, light responsive, defense responsive elements were found in the myosin promoter sequences. Among the cis-elements, the MYB, G-box, ABRE, JA, and SA contributed the most in the plant growth and development, and in response to abiotic and biotic stress conditions. CONCLUSION: Our results showed that myosin genes can be utilized in breeding programs and genetic engineering of plants with the aim of increasing tolerance to abiotic and biotic stresses, especially to viral stresses such as PVY, PVX, PVA, PVS, high light, drought, cold and heat.


Assuntos
Solanum tuberosum , Solanum tuberosum/genética , Solanum tuberosum/metabolismo , Secas , Filogenia , Proteínas de Plantas/metabolismo , Temperatura Alta , Melhoramento Vegetal , Estresse Fisiológico/genética , Plantas/metabolismo , Miosinas/genética , Miosinas/metabolismo , Regulação da Expressão Gênica de Plantas/genética
20.
Anim Genet ; 53(6): 723-739, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36184760

RESUMO

Sheep is a major contributor to global food production among livestock and one of the great sources of red meat for human consumption. Several QTL and numerous genes with major and minor effects have been identified in association with the muscle characteristics in sheep breeds worldwide. Understanding the genetic background of growth and carcass-related traits in sheep is a major factor in increasing muscle growth, muscle hypertrophy and, eventually, meat production. This review concisely shows how major signaling pathways control skeletal muscle growth. Herein we aimed to discuss and summarize different research findings on genomic regions related to carcass traits and meat production in sheep. Several causative mutations with major effects on different muscle-related traits have been reported in various sheep breeds. A general overview of the studies on main candidate genes showed that some alleles have major phenotypic effects in different breeds with commercial and farm level usability. However, numerous genes with minor effects were also reported regarding the polygenic nature of muscle-related traits. The knowledge of the candidate genes involved in growth traits and their effects provides valuable information for breeding and selection of muscularity traits.


Assuntos
Carne Vermelha , Humanos , Ovinos/genética , Animais , Fenótipo , Carne , Músculos , Genoma
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