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1.
Gondwana Res ; 114: 124-137, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35153532

RESUMO

The outbreak of the COVID-19 pandemic has significantly increased the demand for personal protective equipment, in particular face masks, thus leading to a huge amount of healthcare waste generated worldwide. Consequently, such an unprecedented amount of newly emerged waste has posed significant challenges to practitioners, policy-makers, and municipal authorities involved in waste management (WM) systems. This research aims at mapping the COVID-19-related scientific production to date in the field of WM. In this vein, the performance indicators of the target literature were analyzed and discussed through conducting a bibliometric analysis. The conceptual structure of COVID-19-related WM research, including seven main research themes, were uncovered and visualized through a text mining analysis as follows: (1) household and food waste, (2) personnel safety and training for waste handling, (3) sustainability and circular economy, (4) personal protective equipment and plastic waste, (5) healthcare waste management practices, (6) wastewater management, and (7) COVID-19 transmission through infectious waste. Finally, a research agenda for WM practices and activities in the post-COVID-19 era was proposed, focusing on the following three identified research gaps: (i) developing a systemic framework to properly manage the pandemic crisis implications for WM practices as a whole, following a systems thinking approach, (ii) building a circular economy model encompassing all activities from the design stage to the implementation stage, and (iii) proposing incentives to effectively involve informal sectors and local capacity in decentralizing municipal waste management, with a specific focus on developing and less-developed countries.

2.
J Clean Prod ; 297: 126660, 2021 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-34785869

RESUMO

The COVID-19 pandemic has immensely impacted the economic, social, and environmental pillars of sustainability in human lives. Due to the scholars' increasing interest in responding to the urgent call for action against the pandemic, the literature of sustainability research considering COVID-19 consequences is very fragmented. Therefore, a comprehensive review of the COVID-19 implications for sustainability practices is still lacking. This research aims to analyze the effects of COVID-19 on the triple bottom line (TBL) of sustainability to support the future sustainable development agenda. To achieve that, the following research questions are addressed by conducting a systematic literature review: (i) what is the current status of research on the TBL of sustainability considering COVID-19 implications? (ii) how does COVID-19 affect the TBL of sustainability? and (iii) what are the potential research gaps and future research avenues for sustainable development post COVID-19? The results manifest the major implications of the COVID-19 outbreak for the triple sustainability pillars and the sustainable development agenda from the economic, social, and environmental points of view. The key findings provide inclusive insights for governments, authorities, practitioners, and policy-makers to alleviate the pandemic's negative impacts on sustainable development and to realize the sustainability transition opportunities post COVID-19. Finally, five research directions for sustainable development corresponding to the United Nations' sustainable development goals (SDGs) post COVID-19 are provided, as follows: (1) sustainability action plan considering COVID-19 implications: refining sustainability goals and targets and developing measurement framework; (2) making the most of sustainability transition opportunities in the wake of COVID-19: focus on SDG 12 and SDG 9; (3) innovative solutions for economic resilience towards sustainability post COVID-19: focus on SDG 1, SDG 8, and SDG 17; (4) in-depth analysis of the COVID-19 long-term effects on social sustainability: focus on SDG 4, SDG 5, and SDG 10; and (5) expanding quantitative research to harmonize the COVID-19-related sustainability research.

3.
Environ Dev Sustain ; 23(11): 16646-16673, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33841039

RESUMO

As a response to the urgent call for recovery actions against the COVID-19 crisis, this research aims to identify action priority areas post COVID-19 toward achieving the targets of the sustainable development goals (SDGs) within the 2030 Agenda for Sustainable Development launched by the United Nations (UN). This paper applies a mixed-method approach to map the post-COVID-19 SDGs targets on a fuzzy action priority surface at the country level in Iran, as a developing country, by taking the following four main steps: (1) using a modified Delphi method to make a list of the SDGs targets influenced by COVID-19; (2) using the best-worst method, as a multi-criteria decision-making tool, to weight the COVID-19 effects on the SDGs targets achievement; also (3) to weight the impact of the SDGs targets on the sustainable development implementation; and finally (4) designing a fuzzy inference system to calculate the action priority scores of the SDGs targets. As a result, reduction of poor people proportion by half (SDG 1.2), development-oriented policies for supporting creativity and job creation (SDG 8.3), end the pandemics and other epidemics (SDG 3.3), reduction of deaths and economic loss caused by disasters (SDG 11.5), and financial support for small-scale enterprises (SDG 9.3) were identified as the highest priorities for action, respectively, in the recovery agenda for sustainable development post COVID-19. The provided fuzzy action priority surface supports the UN's SDGs achievement and implementing the 2030 Agenda for Sustainable Development in Iran. It also serves as a guideline to help the government, stakeholders, and policy-makers better analyze the long-term effects of the pandemic on the SDGs and their associated targets and mitigate its adverse economic, social, and environmental consequences.

4.
Nucleic Acids Res ; 45(D1): D698-D706, 2017 01 04.
Artigo em Inglês | MEDLINE | ID: mdl-27899581

RESUMO

The HmtDB resource hosts a database of human mitochondrial genome sequences from individuals with healthy and disease phenotypes. The database is intended to support both population geneticists as well as clinicians undertaking the task to assess the pathogenicity of specific mtDNA mutations. The wide application of next-generation sequencing (NGS) has provided an enormous volume of high-resolution data at a low price, increasing the availability of human mitochondrial sequencing data, which called for a cogent and significant expansion of HmtDB data content that has more than tripled in the current release. We here describe additional novel features, including: (i) a complete, user-friendly restyling of the web interface, (ii) links to the command-line stand-alone and web versions of the MToolBox package, an up-to-date tool to reconstruct and analyze human mitochondrial DNA from NGS data and (iii) the implementation of the Reconstructed Sapiens Reference Sequence (RSRS) as mitochondrial reference sequence. The overall update renders HmtDB an even more handy and useful resource as it enables a more rapid data access, processing and analysis. HmtDB is accessible at http://www.hmtdb.uniba.it/.


Assuntos
DNA Mitocondrial , Bases de Dados de Ácidos Nucleicos , Genoma Mitocondrial , Genômica/métodos , Haplótipos , Mitocôndrias/genética , Humanos , Ferramenta de Busca , Software , Navegador
5.
Sensors (Basel) ; 18(5)2018 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-29735956

RESUMO

This paper presents an innovative model for integrating thermal compensation of gyro bias error into an augmented state Kalman filter. The developed model is applied in the Zero Velocity Update filter for inertial units manufactured by exploiting Micro Electro-Mechanical System (MEMS) gyros. It is used to remove residual bias at startup. It is a more effective alternative to traditional approach that is realized by cascading bias thermal correction by calibration and traditional Kalman filtering for bias tracking. This function is very useful when adopted gyros are manufactured using MEMS technology. These systems have significant limitations in terms of sensitivity to environmental conditions. They are characterized by a strong correlation of the systematic error with temperature variations. The traditional process is divided into two separated algorithms, i.e., calibration and filtering, and this aspect reduces system accuracy, reliability, and maintainability. This paper proposes an innovative Zero Velocity Update filter that just requires raw uncalibrated gyro data as input. It unifies in a single algorithm the two steps from the traditional approach. Therefore, it saves time and economic resources, simplifying the management of thermal correction process. In the paper, traditional and innovative Zero Velocity Update filters are described in detail, as well as the experimental data set used to test both methods. The performance of the two filters is compared both in nominal conditions and in the typical case of a residual initial alignment bias. In this last condition, the innovative solution shows significant improvements with respect to the traditional approach. This is the typical case of an aircraft or a car in parking conditions under solar input.

6.
Med Mol Morphol ; 51(1): 41-47, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28887602

RESUMO

Squamous cell carcinoma of the oral cavity represents the sixth most common cancer worldwide and it is often preceded by pre-neoplastic lesions. Sometimes it is still difficult for pathologists to make objective differential diagnoses only on histological characteristics. Tumorigenesis is accompanied by altered expression of cell adhesion molecules, like carcinoembryonic antigen cell adhesion molecule (CEACAM)1. We wanted to investigative CEACAM1 in oral dysplastic lesions, carcinoma in situ (CIS) and oral squamous cell carcinoma (OSCC). We examined immunohistochemical CEACAM1 expression in 50 OSCC, 30 oral CIS and 40 pre-neoplastic lesions and assessed its correlation with clinical and pathological parameters. CEACAM1 was not expressed in normal mucosa, significantly expressed in CIS while it was negative in all the dysplastic lesions. In OSCC, high CEACAM1 expression was associated with tumor grade and inversely correlated with both overall and disease-specific 5-year survival. We showed that CEACAM1 expression is very dynamic: absent in dysplastic lesions, up-regulated in CIS and OSCC. We suggest that CEACAM1 could be a prognostic marker of OSCC and oral CIS. Our most important finding was that it could help pathologists diagnosing oral carcinoma in situ.


Assuntos
Antígenos CD/genética , Biomarcadores Tumorais/genética , Carcinoma in Situ/genética , Carcinoma de Células Escamosas/genética , Moléculas de Adesão Celular/genética , Lesões Pré-Cancerosas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma in Situ/epidemiologia , Carcinoma in Situ/patologia , Carcinoma de Células Escamosas/epidemiologia , Carcinoma de Células Escamosas/patologia , Intervalo Livre de Doença , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Boca/patologia , Lesões Pré-Cancerosas/epidemiologia , Lesões Pré-Cancerosas/patologia
7.
Hum Reprod ; 32(5): 1100-1107, 2017 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-28333293

RESUMO

STUDY QUESTION: Does selection for mtDNA mutations occur in human oocytes? SUMMARY ANSWER: We provide statistical evidence in favor of the existence of purifying selection for mtDNA mutations in human oocytes acting between the expulsion of the first and second polar bodies (PBs). WHAT IS KNOWN ALREADY: Several lines of evidence in Metazoa, including humans, indicate that variation within the germline of mitochondrial genomes is under purifying selection. The presence of this internal selection filter in the germline has important consequences for the evolutionary trajectory of mtDNA. However, the nature and localization of this internal filter are still unclear while several hypotheses are proposed in the literature. STUDY DESIGN, SIZE, DURATION: In this study, 60 mitochondrial genomes were sequenced from 17 sets of oocytes, first and second PBs, and peripheral blood taken from nine women between 38 and 43 years of age. PARTICIPANTS/MATERIALS, SETTING, METHODS: Whole genome amplification was performed only on the single cell samples and Sanger sequencing was performed on amplicons. The comparison of variant profiles between first and second PB sequences showed no difference in substitution rates but displayed instead a sharp difference in pathogenicity scores of protein-coding sequences using three different metrics (MutPred, Polyphen and SNPs&GO). MAIN RESULTS AND THE ROLE OF CHANCE: Unlike the first, second PBs showed no significant differences in pathogenic scores with blood and oocyte sequences. This suggests that a filtering mechanism for disadvantageous variants operates during oocyte development between the expulsion of the first and second PB. LARGE SCALE DATA: N/A. LIMITATIONS, REASONS FOR CAUTION: The sample size is small and further studies are needed before this approach can be used in clinical practice. Studies on a model organism would allow the sample size to be increased. WIDER IMPLICATIONS OF THE FINDINGS: This work opens the way to the study of the correlation between mtDNA mutations, mitochondrial capacity and viability of oocytes. STUDY FUNDING/COMPETING INTEREST(S): This work was supported by a SISMER grant. Laboratory facilities and skills were freely provided by SISMER, and by the Alma Mater Studiorum, University of Bologna. The authors have no conflict of interest to disclose.


Assuntos
DNA Mitocondrial/genética , Mitocôndrias/genética , Mutação , Oócitos/metabolismo , Oogênese/genética , Adulto , Feminino , Genoma Mitocondrial , Humanos , Oócitos/citologia
8.
Bioinformatics ; 30(21): 3115-7, 2014 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-25028726

RESUMO

MOTIVATION: The increasing availability of mitochondria-targeted and off-target sequencing data in whole-exome and whole-genome sequencing studies (WXS and WGS) has risen the demand of effective pipelines to accurately measure heteroplasmy and to easily recognize the most functionally important mitochondrial variants among a huge number of candidates. To this purpose, we developed MToolBox, a highly automated pipeline to reconstruct and analyze human mitochondrial DNA from high-throughput sequencing data. RESULTS: MToolBox implements an effective computational strategy for mitochondrial genomes assembling and haplogroup assignment also including a prioritization analysis of detected variants. MToolBox provides a Variant Call Format file featuring, for the first time, allele-specific heteroplasmy and annotation files with prioritized variants. MToolBox was tested on simulated samples and applied on 1000 Genomes WXS datasets. AVAILABILITY AND IMPLEMENTATION: MToolBox package is available at https://sourceforge.net/projects/mtoolbox/.


Assuntos
DNA Mitocondrial/química , Variação Genética , Genoma Mitocondrial , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Análise de Sequência de DNA/métodos , Software , Humanos , Anotação de Sequência Molecular
9.
BMC Bioinformatics ; 15 Suppl 15: S7, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25474441

RESUMO

BACKGROUND: Expressed sequences (e.g. ESTs) are a strong source of evidence to improve gene structures and predict reliable alternative splicing events. When a genome assembly is available, ESTs are suitable to generate gene-oriented clusters through the well-established EasyCluster software. Nowadays, EST-like sequences can be massively produced using Next Generation Sequencing (NGS) technologies. In order to handle genome-scale transcriptome data, we present here EasyCluster2, a reimplementation of EasyCluster able to speed up the creation of gene-oriented clusters and facilitate downstream analyses as the assembly of full-length transcripts and the detection of splicing isoforms. RESULTS: EasyCluster2 has been developed to facilitate the genome-based clustering of EST-like sequences generated through the NGS 454 technology. Reads mapped onto the reference genome can be uploaded using the standard GFF3 file format. Alignment parsing is initially performed to produce a first collection of pseudo-clusters by grouping reads according to the overlap of their genomic coordinates on the same strand. EasyCluster2 then refines read grouping by including in each cluster only reads sharing at least one splice site and optionally performs a Smith-Waterman alignment in the region surrounding splice sites in order to correct for potential alignment errors. In addition, EasyCluster2 can include unspliced reads, which generally account for >50% of 454 datasets, and collapses overlapping clusters. Finally, EasyCluster2 can assemble full-length transcripts using a Directed-Acyclic-Graph-based strategy, simplifying the identification of alternative splicing isoforms, thanks also to the implementation of the widespread AStalavista methodology. Accuracy and performances have been tested on real as well as simulated datasets. CONCLUSIONS: EasyCluster2 represents a unique tool to cluster and assemble transcriptome reads produced with 454 technology, as well as ESTs and full-length transcripts. The clustering procedure is enhanced with the employment of genome annotations and unspliced reads. Overall, EasyCluster2 is able to perform an effective detection of splicing isoforms, since it can refine exon-exon junctions and explore alternative splicing without known reference transcripts. Results in GFF3 format can be browsed in the UCSC Genome Browser. Therefore, EasyCluster2 is a powerful tool to generate reliable clusters for gene expression studies, facilitating the analysis also to researchers not skilled in bioinformatics.


Assuntos
Processamento Alternativo , Etiquetas de Sequências Expressas , Perfilação da Expressão Gênica/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Software , Algoritmos , Análise por Conglomerados , Éxons , Genômica/métodos , Humanos
10.
BMC Genomics ; 15 Suppl 3: S2, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25077682

RESUMO

BACKGROUND: Whole Exome Sequencing (WES) is one of the most used and cost-effective next generation technologies that allows sequencing of all nuclear exons. Off-target regions may be captured if they present high sequence similarity with baits. Bioinformatics tools have been optimized to retrieve a large amount of WES off-target mitochondrial DNA (mtDNA), by exploiting the aspecificity of probes, partially overlapping to Nuclear mitochondrial Sequences (NumtS). The 1000 Genomes project represents one of the widest resources to extract mtDNA sequences from WES data, considering the large effort the scientific community is undertaking to reconstruct human population history using mtDNA as marker, and the involvement of mtDNA in pathology. RESULTS: A previously published pipeline aimed at assembling mitochondrial genomes from off-target WES reads and further improved to detect insertions and deletions (indels) and heteroplasmy in a dataset of 1242 samples from the 1000 Genomes project, enabled to obtain a nearly complete mitochondrial genome from 943 samples (76% analyzed exomes). The robustness of our computational strategy was highlighted by the reduction of reads amount recognized as mitochondrial in the original annotation produced by the Consortium, due to NumtS filtering. CONCLUSIONS: To the best of our knowledge, this is likely the most extended population-scale mitochondrial genotyping in humans enriched with the estimation of heteroplasmies.


Assuntos
Biologia Computacional , Exoma , Genoma Mitocondrial , Genômica , Linhagem Celular , Mapeamento Cromossômico , Análise por Conglomerados , Conjuntos de Dados como Assunto , Feminino , Frequência do Gene , Variação Genética , Haplótipos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação INDEL , Masculino , Anotação de Sequência Molecular , Grupos Populacionais/genética , Reprodutibilidade dos Testes
11.
Nucleic Acids Res ; 40(Database issue): D1150-9, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22139932

RESUMO

HmtDB (http://www.hmtdb.uniba.it:8080/hmdb) is a open resource created to support population genetics and mitochondrial disease studies. The database hosts human mitochondrial genome sequences annotated with population and variability data, the latter being estimated through the application of the SiteVar software based on site-specific nucleotide and amino acid variability calculations. The annotations are manually curated thus adding value to the quality of the information provided to the end-user. Classifier tools implemented in HmtDB allow the prediction of the haplogroup for any human mitochondrial genome currently stored in HmtDB or externally submitted de novo by an end-user. Haplogroup definition is based on the Phylotree system. End-users accessing HmtDB are hence allowed to (i) browse the database through the use of a multi-criterion 'query' system; (ii) analyze their own human mitochondrial sequences via the 'classify' tool (for complete genomes) or by downloading the 'fragment-classifier' tool (for partial sequences); (iii) download multi-alignments with reference genomes as well as variability data.


Assuntos
DNA Mitocondrial/química , Bases de Dados de Ácidos Nucleicos , Variação Genética , Genoma Mitocondrial , Algoritmos , Genômica , Humanos , Anotação de Sequência Molecular , Alinhamento de Sequência , Análise de Sequência de DNA , Software
12.
Vet Res Commun ; 48(1): 215-224, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37626228

RESUMO

Streptococcus equi subsp. zooepidemicus (S. zooepidemicus) is one of the most important pathogens frequently associated with the main causes of equine infertility. In this study, we surveyed 22 strains of S. zooepidemicus collected during 2021 from cervico-uterine swabs of mares with endometritis. The genetic variability of the isolated strains was studied by multi-locus sequence typing (MLST) from whole-genome sequencing (WGS) data. The average length of reconstructed genomes was 2,088,286 bp (95% CI: 2,061,569 bp-2,114,967 bp), which was expected for S. zooepidemicus genomes. The assembled genomes were assigned to sequence types (STs) using the S. zooepidemicus scheme targeting seven loci (arcC, nrdE, proS, spi, tdk, tpi, yqiL) available in PubMLST database. MLST revealed a wide variability of STs with two (9.1%) novel STs identified in this study, precisely ST521 with two isolates and ST522 with one isolate. Furthermore, 4/22 (18.2%) isolates were assigned to ST92, 3/22 (13.6%) to ST205, 2/22 (9.1%) to ST475, and one strain (4.5%) for each of the following STs: ST10, ST30, ST39, ST49, ST101, ST132, ST147, ST314, ST369, ST467. Isolates were also tested for antimicrobial resistance using Kirby-Bauer disk diffusion method. Resistance to amoxicillin-clavulanate, ampicillin, amikacin, gentamicin, streptomycin, enrofloxacin, sulfamethoxazole-trimethoprim, tetracycline, oxytetracycline represented the most common resistance profile (13/22, 59.1%). No correlation between specific ST and antimicrobial resistance profile was found. Our study provides a comprehensive insight into the epidemiology, ST diversity and antimicrobial resistance profile of S. zooepidemicus strains, isolated in Italy, causing subfertility problems in mares.


Assuntos
Endometrite , Doenças dos Cavalos , Infecções Estreptocócicas , Streptococcus equi , Cavalos , Animais , Feminino , Streptococcus equi/genética , Antibacterianos/farmacologia , Tipagem de Sequências Multilocus/veterinária , Farmacorresistência Bacteriana/genética , Endometrite/veterinária , Infecções Estreptocócicas/veterinária , Doenças dos Cavalos/epidemiologia
13.
J Bacteriol ; 194(16): 4426-7, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22843571

RESUMO

Pseudomonas pseudoalcaligenes KF707 is a soil polychlorinated biphenyl (PCB) degrader, able to grow both planktonically and as a biofilm in the presence of various toxic metals and metalloids. Here we report the genome sequence (5,957,359 bp) of P. pseudoalcaligenes KF707, which provides insights into metabolic degradation pathways, flagellar motility, and chemotaxis.


Assuntos
DNA Bacteriano/química , DNA Bacteriano/genética , Genoma Bacteriano , Bifenilos Policlorados/metabolismo , Pseudomonas pseudoalcaligenes/genética , Pseudomonas pseudoalcaligenes/metabolismo , Análise de Sequência de DNA , Biotransformação , Dados de Sequência Molecular , Pseudomonas pseudoalcaligenes/isolamento & purificação , Microbiologia do Solo
14.
BMC Bioinformatics ; 13 Suppl 4: S15, 2012 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-22536961

RESUMO

BACKGROUND: NumtS (Nuclear MiTochondrial Sequences) are mitochondrial DNA sequences that, after stress events involving the mitochondrion, colonized the nuclear genome. Accurate mapping of NumtS avoids contamination during mtDNA PCR amplification, thus supplying reliable bases for detecting false heteroplasmies. In addition, since they commonly populate mammalian genomes (especially primates) and are polymorphic, in terms of presence/absence and content of SNPs, they may be used as evolutionary markers in intra- and inter-species population analyses. RESULTS: The need for an exhaustive NumtS annotation led us to produce the Reference Human NumtS compilation, followed, as reported in this paper, by those for chimpanzee, rhesus macaque and mouse ones. Identification of NumtS inside the UCSC Genome Browser and their inter-species comparison required the design and the implementation of NumtS tracks, starting from the compilation data. NumtS retrieval through the UCSC Genome Browser, in the species examined, is now feasible at a glance. CONCLUSIONS: Analyses involving NumtS tracks, together with other genome element tracks publicly available at the UCSC Genome Browser, can provide deep insight into genome evolution and comparative genomics, thus improving studies dealing with the mechanisms that drove the generation of NumtS. In addition, the NumtS tracks constitute a useful tool in the design of mitochondrial DNA primers.


Assuntos
Núcleo Celular/genética , Genes Mitocondriais , Macaca mulatta/genética , Camundongos/genética , Pan troglodytes/genética , Software , Animais , DNA Mitocondrial/genética , Genoma , Humanos , Mitocôndrias/genética
15.
Hum Genet ; 131(5): 757-71, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22160368

RESUMO

The human genome is constantly subjected to evolutionary forces which shape its architecture. Insertions of mitochondrial DNA sequences into nuclear genome (NumtS) have been described in several eukaryotic species, including Homo sapiens and other primates. The ongoing process of the generation of NumtS has made them valuable markers in primate phylogenetic studies, as well as potentially informative loci for reconstructing the genetic history of modern humans. Here, we report the identification of 53 human-specific NumtS by inspection of the UCSC genome browser, showing that they may be direct insertions of mitochondrial DNA into the human nuclear DNA after the human-chimpanzee split. In silico analyses allowed us to identify 14 NumtS which are polymorphic in terms of their presence/absence within the human genome in individuals of different ancestry. The allele frequencies of these polymorphic NumtS were calculated for 1000 Genomes Project sequence data from 13 populations worldwide, and principal components analysis and hierarchical clustering methods allowed the detection of strong signals of geographical structure related to the genetic diversity of these loci. All identified polymorphic human-specific NumtS together with a tandemly duplicated NumtS have also been validated by PCR amplification on a panel of 60 samples belonging to five native populations worldwide, confirming the expected NumtS variability. On the basis of these findings, we have succeeded in depicting the landscape of variation of a series of NumtS in several ethnic groups, making an advance in their identification as useful markers in the study on human population genetics.


Assuntos
Núcleo Celular/genética , Marcadores Genéticos , Genética Populacional , Genoma Humano , Bases de Dados como Assunto , Etnicidade/genética , Humanos , Polimorfismo Genético , Análise de Sequência de DNA
17.
Life (Basel) ; 12(6)2022 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-35743940

RESUMO

In this report, three cases of human cutaneous anthrax are described, one complicated by meningitis, and all were linked to a single infected bullock. A 41-year-old male truck driver, along with two male slaughterhouse workers, 45 and 42, were hospitalized for necrotic lesions of the arm associated with edema of the limb and high fever. All three patients were involved in transporting a bullock to the slaughterhouse. Microbiological examination on the prescapular lymph node and a piece of muscle from the bullock carcass showed the presence of Bacillus anthracis. The three patients underwent a biopsy of the affected tissues, and all samples tested positive for B. anthracis DNA using PCR. Furthermore, the truck driver also complained of an intense headache, and a CSF sampling was performed, showing him positive for B. anthracis by PCR, confirming the presumptive diagnosis of meningitis. Fast diagnosis and appropriate treatment are crucial for the management of human anthrax. Cooperation between human and veterinary medicine proved successful in diagnosing and resolving three human anthrax cases, confirming the reliability of the One Health approach for the surveillance of zoonoses.

18.
Foods ; 11(16)2022 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-36010481

RESUMO

Bacillus cereus is isolated from a variety of foods where it may cause food spoilage and/or food poisoning due to its toxigenic and pathogenic nature. In this study, we identified members of B. cereus groups in 65% of the ice cream samples analyzed, which were characterized based on multi locus variable number tandem repeats analysis (MLVA) and whole genome sequencing (WGS). The MLVA revealed that 36 strains showed different allelic profiles. Analyses of WGS data enabled the identification of three members of the B. cereus group: B. cereus sensu stricto, B. mosaicus and B. thuringiensis. Based on the multi locus sequence typing (MLST) scheme, the strains were classified in 27 sequence types (STs), including ST26 that causes food poisoning. Toxin genes' detection revealed the presence of the genes encoding nonhemolytic enterotoxin (NHE), hemolysin BL (HBL), cytotoxin K (cytK) and cereulide (ces) in 100%, 44%, 42% and 8% of the strains, respectively. The identification of eleven antimicrobial resistance (AMR) genes predicted the resistance to five different antimicrobials, and the resistance to beta-lactam antibiotics was confirmed with a phenotypic antimicrobial test. Taken together, the results showed that the B. cereus strains isolated from ice cream were a potential hazard for consumer safety.

19.
Chemosphere ; 309(Pt 2): 136755, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36209843

RESUMO

Biofuels have gained much attention as a potentially sustainable alternative to fossil fuels to tackle climate change and energy scarcity. Hence, the increasing global interest in contributing to the biofuel supply chain (BSC), from biomass feedstock to biofuel production, has led to a huge amount of scientific production in recent years. In this vein, techno-economic analysis (TEA) of biofuel production to estimate total costs and revenues is highly important for transitioning towards a bioeconomy. This research aims to provide a comprehensive image of the body of knowledge in TEA evolution within the BSC domain. To this end, a systematic science mapping analysis, supported by a bibliometric analysis, is carried out on 1104 articles from 1986 to 2021. As a result, performance indicators of the scientific production within the target literature are presented to explain how this literature has evolved. Besides, thematic trends and conceptual structures of TEA of biofuel production are discovered. The results show that (i) biofuel production and consumption need promotion through tax measures and price subsidies, (ii) the development of cost-competitive algal biofuels has faced many challenges over recent years, and (iii) TEA of algal biofuels to identify commercial improvements and increase the economic feasibility is still lacking, which calls for more in-depth investigations. Consequently, current challenges and future perspectives of TEA in the BSC domain are rendered. The provided insights enable researchers and decision-makers involved in BSCs to (i) capture the most influential contributors to the field and (ii) identify major research hotspots and potential directions for further development.


Assuntos
Biocombustíveis , Mudança Climática , Biomassa , Combustíveis Fósseis
20.
Artigo em Inglês | MEDLINE | ID: mdl-36141993

RESUMO

The ongoing outbreak of the Monkeypox virus (MPXV) is characterized by sustained human-to-human transmission, particularly among men who have sex with men (MSM). The aim of the study was to describe the characteristics of the MPXV infection identified in Southern Italy. Clinical samples for each suspected case identified from 1 June to 1 August 2022 were tested for MPXV, and whole-genome sequencing (WGS) was performed on two strains. Ten cases were identified: eight were young adult males, including six MSMs, and two were female. Nine subjects reported recent sexual exposure. One female subject without sexual exposure only reported attendance at a social gathering. Overall, 7 of 10 skin lesion samples had a high viral load of MPXV DNA, and 6/9 whole blood samples and 6/8 nasopharyngeal swab samples also tested positive. The analyzed sequences belonged to Clade 3, lineage B.1, and B.1.5, respectively. Despite this recent multinational outbreak of MPXV cases having revealed a high proportion of cases occurring among MSM, the identification of cases among heterosexual subjects and in a female subject without sexual risk factors should raise awareness among clinicians about the possible spread of MPXV in the general population.


Assuntos
Mpox , Minorias Sexuais e de Gênero , DNA Viral , Feminino , Homossexualidade Masculina , Humanos , Masculino , Mpox/epidemiologia , Monkeypox virus/genética , Adulto Jovem
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