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Background and Objectives: Higher level of aggression and antisocial behavior have been found in the period following head trauma. These changes are attributable to specific brain alterations that generally involved frontal lobe, insula and limbic system. A descriptive review was conducted on the specificity of aggressive behavior in relation to traumatic brain injury by evaluating numerous variables, focusing on age at the time of trauma and neuroimaging studies. Materials and Methods: We searched on PubMed and the Web of Science databases to screen references of included studies and review articles for additional citations. From an initial 738 publications, only 27 met the search criteria of describing the relationship between aggression, brain alterations and traumatic brain injury. Results: These findings showed that traumatic brain injury (TBI) is related to changes in behavior, personality and mood. Conclusions: The development of aggressive and criminal behavior is associated with multiple factors, including the etiology of injury, environmental, psychosocial and personality factors and age at the time of trauma.
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Lesiones Traumáticas del Encéfalo , Traumatismos Craneocerebrales , Humanos , Lesiones Traumáticas del Encéfalo/complicaciones , Agresión , Encéfalo , PersonalidadRESUMEN
OBJECTIVES: To evaluate and characterise meningococcal carriage among healthy men who have sex with men (MSM) within a screening programme for Neisseria gonorrhoeae infection at the San Gallicano Dermatological Institute, Italy. METHODS: A total of 441 MSM attending the STI/HIV Centre of the San Gallicano Institute, Rome, Italy, in 2016 were routinely screened for N. gonorrhoeae infection by pharyngeal and rectal swabs. N. meningitidis isolates were evaluated for antibiotic susceptibility and characterised by whole genome sequencing. Genetic relationships among the meningococcal carriage isolates were determined using core genome multilocus sequence typing analysis. The soluble domain of AniA (sAniA) protein expression by western blotting was also evaluated. RESULTS: A total of 62 (14.1%, 95% CI 11.1 to 17.6) carriage meningococci were found among 441 MSM. Forty-three viable N. meningitidis isolates were cultivated (42 from pharyngeal and 1 from rectal swabs). All the viable isolates were susceptible to cefotaxime, ceftriaxone, ciprofloxacin and rifampicin. Four isolates were penicillin G-resistant and 73% of those penicillin G-susceptible showed a minimum inhibitory concentration from 0.064 µg/mL to 0.25 µg/mL. Serogroup B was the most frequent (44.2%), followed by Z (16.3%), E (9.3%), and Y and W (2.3%), respectively. Multilocus sequence typing analysis identified 29 sequence types belonging to 12 clonal complexes. The sAniA protein was expressed in 8 out of 28 (29%) screened meningococcal carriage isolates. CONCLUSIONS: Serogroup B meningococcal carriage identified from oral and anal specimens among healthy MSM was the most frequent serogroup identified in this study. Molecular evaluation revealed a degree of similarity among strains belonging to the same clonal complex.
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Infecciones Meningocócicas , Neisseria meningitidis , Minorías Sexuales y de Género , Antibacterianos/farmacología , Portador Sano/epidemiología , Homosexualidad Masculina , Humanos , Masculino , Infecciones Meningocócicas/diagnóstico , Infecciones Meningocócicas/epidemiología , Infecciones Meningocócicas/prevención & control , Neisseria meningitidis/genéticaRESUMEN
Non-compliance with social and legal norms and regulations represents a high burden for society. Social cognition deficits are frequently called into question to explain criminal violence and rule violations in individuals diagnosed with antisocial personality disorder (APD), borderline personality disorder (BPD), and psychopathy. In this article, we proposed to consider the potential benefits of non-invasive brain stimulation (NIBS) to rehabilitate forensic population. We focused on the effects of NIBS of the prefrontal cortex, which is central in social cognition, in modulating aggression and impulsivity in clinical disorders, as well as in forensic population. We also addressed the effect of NIBS on empathy, and theory of mind in non-clinical and/or prison population. The reviewed data provide promising evidence on the beneficial effect of NIBS on aggression/impulsivity dyscontrol and social cognitive functions, suggesting its relevance in promoting reintegration of criminals into society.
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Whole genome sequences of SARS-CoV-2 obtained from two patients, a Chinese tourist visiting Rome and an Italian, were compared with sequences from Europe and elsewhere. In a phylogenetic tree, the Italian patient's sequence clustered with sequences from Germany while the tourist's sequence clustered with other European sequences. Some additional European sequences in the tree segregated outside the two clusters containing the patients' sequences. This suggests multiple SARS-CoV-2 introductions in Europe or virus evolution during circulation.
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Betacoronavirus/genética , Infecciones por Coronavirus/diagnóstico , Coronavirus/genética , Genoma Viral/genética , Neumonía Viral/diagnóstico , ARN Viral/genética , Síndrome Respiratorio Agudo Grave/diagnóstico , Viaje , Secuenciación Completa del Genoma/métodos , Betacoronavirus/aislamiento & purificación , COVID-19 , China , Coronavirus/clasificación , Coronavirus/aislamiento & purificación , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/transmisión , Alemania , Humanos , Italia , Epidemiología Molecular , Pandemias , Filogenia , Neumonía Viral/epidemiología , Neumonía Viral/transmisión , Mutación Puntual , ARN Viral/aislamiento & purificación , SARS-CoV-2 , Síndrome Respiratorio Agudo Grave/virologíaRESUMEN
The increasing exposure to radiofrequency electromagnetic fields (RF-EMF), especially from wireless communication devices, raises questions about their possible adverse health effects. So far, several in vitro studies evaluating RF-EMF genotoxic and cytotoxic non-thermal effects have reported contradictory results that could be mainly due to inadequate experimental design and lack of well-characterized exposure systems and conditions. Moreover, a topic poorly investigated is related to signal modulation induced by electromagnetic fields. The aim of this study was to perform an analysis of the potential non-thermal biological effects induced by 2.45 GHz exposures through a characterized exposure system and a multimethodological approach. Human fibroblasts were exposed to continuous (CW) and pulsed (PW) signals for 2 h in a wire patch cell-based exposure system at the specific absorption rate (SAR) of 0.7 W/kg. The evaluation of the potential biological effects was carried out through a multimethodological approach, including classical biological markers (genotoxic, cell cycle, and ultrastructural) and the evaluation of gene expression profile through the powerful high-throughput next generation sequencing (NGS) RNA sequencing (RNA-seq) approach. Our results suggest that 2.45 GHz radiofrequency fields did not induce significant biological effects at a cellular or molecular level for the evaluated exposure parameters and conditions.
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Ciclo Celular/efectos de la radiación , Dermis/efectos de la radiación , Fibroblastos/efectos de la radiación , Expresión Génica/efectos de la radiación , Ondas de Radio/efectos adversos , Anciano , Células Cultivadas , Dermis/citología , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Meningococcal disease incidence in Italy remains quite low in the overall population except for infants. Within a study on carriage isolates among high school students we aimed to define: i) the prevalence of carriage isolates, ii) the phenotypic and iii) the molecular features of meningococci by Whole Genome Sequencing (WGS). A total of 1697 pharyngeal samples from undergraduate students (age range 14-19 years) were collected from 2012 to 2013 from six larger cities in Italy. One hundred and twenty culture positive meningococci (7%) were analyzed. Carriage isolates were sent to the National Reference Laboratory for invasive meningococcal disease (IMD) for PCR-based serogroup identification, Multilocus Sequence Typing, PorA and FetA typing. Moreover, factor H binding protein (fHbp), Neisseria Heparin Binding Antigen (NHBA) and Neisserial adhesin A (NadA) were typed. Core genome MLST (cgMLST) was performed on a subsample of 75 carriage isolates. Capsule null locus (cnl) predominated (47%), followed by serogroup B (27%). The antimicrobial susceptibility profile revealed an high prevalence of reduced susceptibility to penicillin G (54%) and a full susceptibility to ceftriaxone, ciprofloxacin and rifampicin. Carriage isolates presented a high genetic diversity: the clonal complexes (ccs) cc1136, cc198 and cc41/44, were the predominant. An high heterogeneity was also observed for PorA and FetA types. The fhbp and nhba genes were identified in all the carriage isolates; only 5% of the carriage isolates presented the nadA gene. The core genome MLST analysis revealed that the majority of the cnl isolates clustered in a distinct group. The evidence gathered during this study provides the estimate of carriage isolates in high school students in a non-epidemic period in Italy that was lower than expected. Moreover, the highest proportion of carriage isolates were cnl and, overall, they were molecular heterogeneous.
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Cápsulas Bacterianas/genética , Portador Sano/microbiología , Infecciones Meningocócicas/microbiología , Neisseria meningitidis/aislamiento & purificación , Adolescente , Antibacterianos/farmacología , Proteínas Bacterianas/genética , Portador Sano/epidemiología , ADN Bacteriano/genética , Femenino , Variación Genética , Genoma Bacteriano/genética , Genotipo , Humanos , Italia/epidemiología , Masculino , Infecciones Meningocócicas/epidemiología , Pruebas de Sensibilidad Microbiana , Tipificación de Secuencias Multilocus , Neisseria meningitidis/clasificación , Neisseria meningitidis/efectos de los fármacos , Neisseria meningitidis/genética , Faringe/microbiología , Filogenia , Prevalencia , Análisis de Secuencia de ADN , Serogrupo , Estudiantes , Adulto JovenRESUMEN
BACKGROUND: Endemic presence of Klebsiella pneumoniae resistant to carbapenem in Italy has been due principally to the clonal expansion of CC258 isolates; however, recent studies suggest an ongoing epidemiological change in this geographical area. METHODS: 50 K. pneumoniae strains, 25 carbapenem-resistant (CR-Kp) and 25 susceptible (CS-Kp), collected from march 2014 to march 2016 at the Laboratory of Bacteriology of the Paolo Giaccone Polyclinic University hospital of Palermo, Italy, were characterized for antibiotic susceptibility and fully sequenced by next generation sequencing (NGS) for the in silico analysis of resistome, virulome, multi-locus sequence typing (MLST) and core single nucleotide polymorphism (SNP) genotypes RESULTS: MLST in silico analysis of CR-Kp showed that 52% of isolates belonged to CC258, followed by ST395 (12%), ST307 (12%), ST392 (8%), ST348 (8%), ST405 (4%) and ST101 (4%). In the CS-Kp group, the most represented isolate was ST405 (20%), followed by ST392 and ST15 (12%), ST395, ST307 and ST1727 (8%). The in silico ß-lactamase analysis of the CR-Kp group showed that the most detected gene was blaSHV (100%), followed by blaTEM (92%), blaKPC (88%), blaOXA (88%) and blaCTX-M (32%). The virulome analysis detected mrk operon in all studied isolates, and wzi-2 was found in three CR-Kp isolates (12%). Furthermore, the distribution of virulence genes encoding for the yersiniabactin system, its receptor fyuA and the aerobactin system did not show significant distribution differences between CR-Kp and CS-Kp, whereas the Klebsiella ferrous iron uptake system (kfuA, kfuB and kfuC genes), the two-component system kvgAS and the microcin E495 were significantly (p < 0.05) prevalent in the CS-Kp group compared to the CR-Kp group. Core SNP genotyping, correlating with the MLST data, allowed greater strain tracking and discrimination than MLST analysis. CONCLUSIONS: Our data support the idea that an epidemiological change is ongoing in the Palermo area (Sicily, Italy). In addition, our analysis revealed the co-existence of antibiotic resistance and virulence factors in CR-Kp isolates; this characteristic should be considered for future genomic surveillance studies.
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Farmacorresistencia Bacteriana/genética , Klebsiella pneumoniae/efectos de los fármacos , Klebsiella pneumoniae/genética , Factores de Virulencia/genética , Adulto , Anciano , Anciano de 80 o más Años , Antibacterianos/farmacología , Proteínas Bacterianas/genética , Técnicas de Tipificación Bacteriana , Carbapenémicos/farmacología , Farmacorresistencia Bacteriana/efectos de los fármacos , Genotipo , Humanos , Infecciones por Klebsiella/microbiología , Klebsiella pneumoniae/clasificación , Klebsiella pneumoniae/aislamiento & purificación , Persona de Mediana Edad , Tipificación de Secuencias Multilocus , Filogenia , Polimorfismo de Nucleótido Simple , Sicilia , beta-Lactamasas/genéticaRESUMEN
For 10,000 years pigs and humans have shared a close and complex relationship. From domestication to modern breeding practices, humans have shaped the genomes of domestic pigs. Here we present the assembly and analysis of the genome sequence of a female domestic Duroc pig (Sus scrofa) and a comparison with the genomes of wild and domestic pigs from Europe and Asia. Wild pigs emerged in South East Asia and subsequently spread across Eurasia. Our results reveal a deep phylogenetic split between European and Asian wild boars â¼1 million years ago, and a selective sweep analysis indicates selection on genes involved in RNA processing and regulation. Genes associated with immune response and olfaction exhibit fast evolution. Pigs have the largest repertoire of functional olfactory receptor genes, reflecting the importance of smell in this scavenging animal. The pig genome sequence provides an important resource for further improvements of this important livestock species, and our identification of many putative disease-causing variants extends the potential of the pig as a biomedical model.
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Genoma/genética , Filogenia , Sus scrofa/clasificación , Sus scrofa/genética , Animales , Demografía , Modelos Animales , Datos de Secuencia Molecular , Dinámica PoblacionalRESUMEN
Four cases of infection with serogroup X meningococci (MenX) (1 in 2015 and 3 in 2016) occurred in migrants living in refugee camps or reception centers in Italy. All MenX isolates were identified as clonal complex 181. Our report suggests that serogroup X represents an emerging health threat for persons arriving from African countries.
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Brotes de Enfermedades , Meningitis Meningocócica/epidemiología , Meningitis Meningocócica/microbiología , Neisseria meningitidis/clasificación , Refugiados , Vigilancia de Guardia , Serogrupo , Adolescente , Adulto , Antibacterianos/uso terapéutico , Femenino , Humanos , Italia/epidemiología , Masculino , Meningitis Meningocócica/diagnóstico , Meningitis Meningocócica/tratamiento farmacológico , Tipificación de Secuencias Multilocus , Neisseria meningitidis/genética , Filogenia , Resultado del Tratamiento , Adulto JovenRESUMEN
BACKGROUND: The emergence of carbapenem-resistant Klebsiella pneumoniae strains is threatening antimicrobial treatment. METHODS: Sixty-eight carbapenemase-producing K. pneumoniae strains isolated at Luigi Sacco University Hospital-ASST Fatebenefratelli Sacco (Milan, Italy) between 2012 and 2014 were characterised microbiologically and molecularly. They were tested for drug susceptibility and carbapenemase phenotypes, investigated by means of repetitive extra-genic palindromic polymerase chain reaction (REP-PCR), and fully sequenced by means of next-generation sequencing for the in silico analysis of multi-locus sequence typing (MLST), their resistome, virulome and plasmid content, and their core single nucleotide polymorphism (SNP) genotypes. RESULTS: All of the samples were resistant to carbapenems, other ß-lactams and ciprofloxacin; many were resistant to aminoglycosides and tigecycline; and seven were resistant to colistin. Resistome analysis revealed the presence of blaKPC genes and, less frequently blaSHV, blaTEM, blaCTX-M and blaOXA, which are related to resistance to carbapenem and other ß-lactams. Other genes conferring resistance to aminoglycoside, fluoroquinolone, phenicol, sulphonamide, tetracycline, trimethoprim and macrolide-lincosamide-streptogramin were also detected. Genes related to AcrAB-TolC efflux pump-dependent and pump-independent tigecycline resistance mechanisms were investigated, but it was not possible to clearly correlate the genomic features with tigecycline resistance because of the presence of a common mutation in susceptible, intermediate and resistant strains. Concerning colistin resistance, the mgrB gene was disrupted by an IS5-like element, and the mobile mcr-1 and mcr-2 genes were not detected in two cases. The virulome profile revealed type-3 fimbriae and iron uptake system genes, which are important during the colonisation stage in the mammalian host environment. The in silico detected plasmid replicons were classified as IncFIB(pQil), IncFIB(K), ColRNAI, IncX1, IncX3, IncFII(K), IncN, IncL/M(pMU407) and IncFIA(HI1). REP-PCR showed five major clusters, and MLST revealed six different sequence types: 512, 258, 307, 1519, 745 and 101. Core SNP genotyping, which led to four clusters, correlated with the MLST data. Isolates of the same sequencing type often had common genetic traits, but the SNP analysis allowed greater strain tracking and discrimination than either the REP-PCR or MLST analysis. CONCLUSION: Our findings support the importance of implementing bacterial genomics in clinical medicine in order to complement traditional methods and overcome their limited resolution.
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Antibacterianos/farmacología , Carbapenémicos/farmacología , Farmacorresistencia Bacteriana/genética , Klebsiella pneumoniae/efectos de los fármacos , Klebsiella pneumoniae/genética , Aminoglicósidos/farmacología , Aminoglicósidos/uso terapéutico , Antibacterianos/uso terapéutico , Proteínas Bacterianas/genética , Carbapenémicos/uso terapéutico , Colistina/farmacología , Colistina/uso terapéutico , Fluoroquinolonas/farmacología , Fluoroquinolonas/uso terapéutico , Genoma Bacteriano , Genotipo , Hospitales , Humanos , Italia , Infecciones por Klebsiella/microbiología , Klebsiella pneumoniae/aislamiento & purificación , Tipificación de Secuencias Multilocus , Polimorfismo de Nucleótido Simple , Secuenciación Completa del Genoma , beta-Lactamasas/genéticaRESUMEN
Heart failure (HF) is a growing epidemic, affecting millions of people worldwide, and is a major cause of mortality, morbidity, and impaired quality of life. Traditional cardiac rehabilitation is a valuable approach to the physical and quality-of-life recovery of patients with cardiovascular disease. The innovative approach of remote monitoring through telemedicine offers a solution based on modern technologies, enabling continuous collection of health data outside the hospital environment. Remote monitoring devices present challenges that could adversely affect patient adherence, resulting in the risk of dropout. By applying a cognitive-behavioral model, we aim to identify the antecedents of dropout behavior among patients adhering to traditional cardiac rehabilitation programs and remote monitoring in order to improve the latter. Our study was conducted from October 2023 to January 2024. In the first stage, we used data from literature consultation. Subsequently, data were collected from the direct experience of 49 health workers related to both remote monitoring and traditional treatment, recruited from the authors' workplace. Results indicate that patients with cardiovascular disease tend to abandon remote monitoring programs more frequently than traditional cardiac rehabilitation therapies. It is critical to design approaches that take these barriers into account to improve adherence and patient satisfaction. This analysis identified specific antecedents to address, helping to improve current monitoring models. This is crucial to promote care continuity and to achieve self-management by patients in the future.
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Cardiovascular and neurological diseases are a major cause of mortality and morbidity worldwide. Such diseases require careful monitoring to effectively manage their progression. Artificial intelligence (AI) offers valuable tools for this purpose through its ability to analyse data and identify predictive patterns. This review evaluated the application of AI in cardiac and neurological diseases for their clinical impact on the general population. We reviewed studies on the application of AI in the neurological and cardiological fields. Our search was performed on the PubMed, Web of Science, Embase and Cochrane library databases. Of the initial 5862 studies, 23 studies met the inclusion criteria. The studies showed that the most commonly used algorithms in these clinical fields are Random Forest and Artificial Neural Network, followed by logistic regression and Support-Vector Machines. In addition, an ECG-AI algorithm based on convolutional neural networks has been developed and has been widely used in several studies for the detection of atrial fibrillation with good accuracy. AI has great potential to support physicians in interpretation, diagnosis, risk assessment and disease management.
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BACKGROUND: The availability of gene expression data that corresponds to pig immune response challenges provides compelling material for the understanding of the host immune system. Meta-analysis offers the opportunity to confirm and expand our knowledge by combining and studying at one time a vast set of independent studies creating large datasets with increased statistical power. In this study, we performed two meta-analyses of porcine transcriptomic data: i) scrutinized the global immune response to different challenges, and ii) determined the specific response to Porcine Reproductive and Respiratory Syndrome Virus (PRRSV) infection. To gain an in-depth knowledge of the pig response to PRRSV infection, we used an original approach comparing and eliminating the common genes from both meta-analyses in order to identify genes and pathways specifically involved in the PRRSV immune response. The software Pointillist was used to cope with the highly disparate data, circumventing the biases generated by the specific responses linked to single studies. Next, we used the Ingenuity Pathways Analysis (IPA) software to survey the canonical pathways, biological functions and transcription factors found to be significantly involved in the pig immune response. We used 779 chips corresponding to 29 datasets for the pig global immune response and 279 chips obtained from 6 datasets for the pig response to PRRSV infection, respectively. RESULTS: The pig global immune response analysis showed interconnected canonical pathways involved in the regulation of translation and mitochondrial energy metabolism. Biological functions revealed in this meta-analysis were centred around translation regulation, which included protein synthesis, RNA-post transcriptional gene expression and cellular growth and proliferation. Furthermore, the oxidative phosphorylation and mitochondria dysfunctions, associated with stress signalling, were highly regulated. Transcription factors such as MYCN, MYC and NFE2L2 were found in this analysis to be potentially involved in the regulation of the immune response. The host specific response to PRRSV infection engendered the activation of well-defined canonical pathways in response to pathogen challenge such as TREM1, toll-like receptor and hyper-cytokinemia/ hyper-chemokinemia signalling. Furthermore, this analysis brought forth the central role of the crosstalk between innate and adaptive immune response and the regulation of anti-inflammatory response. The most significant transcription factor potentially involved in this analysis was HMGB1, which is required for the innate recognition of viral nucleic acids. Other transcription factors like interferon regulatory factors IRF1, IRF3, IRF5 and IRF8 were also involved in the pig specific response to PRRSV infection. CONCLUSIONS: This work reveals key genes, canonical pathways and biological functions involved in the pig global immune response to diverse challenges, including PRRSV infection. The powerful statistical approach led us to consolidate previous findings as well as to gain new insights into the pig immune response either to common stimuli or specifically to PRRSV infection.
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Síndrome Respiratorio y de la Reproducción Porcina/genética , Virus del Síndrome Respiratorio y Reproductivo Porcino/genética , Inmunidad Adaptativa/genética , Animales , Bases de Datos Factuales , Regulación de la Expresión Génica , Inmunidad Innata/genética , Factores Reguladores del Interferón/genética , Factores Reguladores del Interferón/metabolismo , Síndrome Respiratorio y de la Reproducción Porcina/inmunología , Síndrome Respiratorio y de la Reproducción Porcina/virología , Virus del Síndrome Respiratorio y Reproductivo Porcino/metabolismo , Receptores Inmunológicos/genética , Receptores Inmunológicos/metabolismo , Porcinos , Receptores Toll-Like/genética , Receptores Toll-Like/metabolismo , Factores de Transcripción/genética , Factores de Transcripción/metabolismoRESUMEN
BACKGROUND: The domestic pig is known as an excellent model for human immunology and the two species share many pathogens. Susceptibility to infectious disease is one of the major constraints on swine performance, yet the structure and function of genes comprising the pig immunome are not well-characterized. The completion of the pig genome provides the opportunity to annotate the pig immunome, and compare and contrast pig and human immune systems. RESULTS: The Immune Response Annotation Group (IRAG) used computational curation and manual annotation of the swine genome assembly 10.2 (Sscrofa10.2) to refine the currently available automated annotation of 1,369 immunity-related genes through sequence-based comparison to genes in other species. Within these genes, we annotated 3,472 transcripts. Annotation provided evidence for gene expansions in several immune response families, and identified artiodactyl-specific expansions in the cathelicidin and type 1 Interferon families. We found gene duplications for 18 genes, including 13 immune response genes and five non-immune response genes discovered in the annotation process. Manual annotation provided evidence for many new alternative splice variants and 8 gene duplications. Over 1,100 transcripts without porcine sequence evidence were detected using cross-species annotation. We used a functional approach to discover and accurately annotate porcine immune response genes. A co-expression clustering analysis of transcriptomic data from selected experimental infections or immune stimulations of blood, macrophages or lymph nodes identified a large cluster of genes that exhibited a correlated positive response upon infection across multiple pathogens or immune stimuli. Interestingly, this gene cluster (cluster 4) is enriched for known general human immune response genes, yet contains many un-annotated porcine genes. A phylogenetic analysis of the encoded proteins of cluster 4 genes showed that 15% exhibited an accelerated evolution as compared to 4.1% across the entire genome. CONCLUSIONS: This extensive annotation dramatically extends the genome-based knowledge of the molecular genetics and structure of a major portion of the porcine immunome. Our complementary functional approach using co-expression during immune response has provided new putative immune response annotation for over 500 porcine genes. Our phylogenetic analysis of this core immunome cluster confirms rapid evolutionary change in this set of genes, and that, as in other species, such genes are important components of the pig's adaptation to pathogen challenge over evolutionary time. These comprehensive and integrated analyses increase the value of the porcine genome sequence and provide important tools for global analyses and data-mining of the porcine immune response.
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Genómica , Inmunidad/genética , Anotación de Secuencia Molecular , Porcinos/genética , Porcinos/inmunología , Animales , Bovinos , Evolución Molecular , Duplicación de Gen , Humanos , Inmunoglobulinas/genética , Ratones , Modelos Moleculares , Conformación Proteica , Receptores de Antígenos de Linfocitos T/genética , Receptores KIR/genética , Selección Genética , Especificidad de la EspecieRESUMEN
We performed next-generation sequencing (NGS), phylogenetic analysis, gene flows, and N- and O-glycosylation prediction on SARS-CoV-2 genomes collected from lab-confirmed cases from different Italian regions. To this end, a total of 111 SARS-CoV-2 genomes collected in Italy between 29 January and 27 March 2020 were investigated. The majority of the genomes belonged to lineage B.1, with some descendant lineages. The gene flow analysis showed that the spread occurred mainly from the north to the center and to the south of Italy, as confirmed by epidemiological data. The mean evolutionary rate estimated here was 8.731 × 10-4 (95% highest posterior density, HPD intervals 5.809 × 10-4 to 1.19 × 10-3), in line with values reported by other authors. The dated phylogeny suggested that SARS-CoV-2 lineage B.1 probably entered Italy between the end of January and early February 2020. Continuous molecular surveillance is needed to trace virus circulation and evolution.
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COVID-19 , Genoma Viral , COVID-19/epidemiología , Genómica , Humanos , Filogenia , SARS-CoV-2/genéticaAsunto(s)
Infecciones Meningocócicas/diagnóstico , Infecciones Meningocócicas/microbiología , Neisseria meningitidis/clasificación , Pericarditis/diagnóstico , Pericarditis/microbiología , Adulto , Antibacterianos/farmacología , Farmacorresistencia Bacteriana , Electrocardiografía , Genoma Bacteriano , Humanos , Italia/epidemiología , Masculino , Infecciones Meningocócicas/epidemiología , Neisseria meningitidis/efectos de los fármacos , Neisseria meningitidis/genética , Neisseria meningitidis/aislamiento & purificación , Pericarditis/epidemiología , Evaluación de Síntomas , Secuenciación Completa del GenomaRESUMEN
In animals, botulism is commonly sustained by botulinum neurotoxin C, D or their mosaic variants, which are produced by anaerobic bacteria included in Clostridium botulinum group III. In this study, a WGS has been applied to a large collection of C. botulinum group III field strains in order to expand the knowledge on these BoNT-producing Clostridia and to evaluate the potentiality of this method for epidemiological investigations. Sixty field strains were submitted to WGS, and the results were analyzed with respect to epidemiological information and compared to published sequences. The strains were isolated from biological or environmental samples collected in animal botulism outbreaks which occurred in Italy from 2007 to 2016. The new sequenced strains belonged to subspecific groups, some of which were already defined, while others were newly characterized, peculiar to Italian strains and contained genomic features not yet observed. This included, in particular, two new flicC types (VI and VII) and new plasmids which widen the known plasmidome of the species. The extensive genome exploration shown in this study improves the C. botulinum and related species classification scheme, enriching it with new strains of rare genotypes and permitting the highest grade of discrimination among strains for forensic and epidemiological applications.
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A high-quality dataset of 3289 complete SARS-CoV-2 genomes collected in Europe and European Economic Area (EAA) in the early phase of the first wave of the pandemic was analyzed. Among all single nucleotide mutations, 41 had a frequency ≥ 1%, and the phylogenetic analysis showed at least 6 clusters with a specific mutational profile. These clusters were differentially distributed in the EU/EEA, showing a statistically significant association with the geographic origin. The analysis highlighted that the mutations C14408T and C14805T played an important role in clusters selection and further virus spread. Moreover, the molecular analysis suggests that the SARS-CoV-2 strain responsible for the first Italian confirmed COVID-19 case was already circulating outside the country.
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COVID-19/epidemiología , COVID-19/virología , Mutación , Filogenia , SARS-CoV-2/genética , Europa (Continente)/epidemiología , Genoma Viral , Humanos , Italia/epidemiología , Tasa de MutaciónRESUMEN
BACKGROUND: higher level of aggression and antisocial behavior are frequent following head trauma, due to specific brain alterations. Many tests are used to assess this aspect. A descriptive review was conducted on the main tests used to detect the appearance of aggressive dimensions following traumatic brain injury. REVIEW SUMMARY: we searched on PubMed and Web of Science databases and screening references of included studies and review articles for additional citations. From initial 723 publications, only 7 met our search criteria. Findings showed that various psychometric tools are used to assess aggressiveness and its subdomains, following head trauma. CONCLUSIONS: further investigation are necessary to clarify whether these tools ensure a reliable diagnosis in order to make an early intervention and reduce violent behavior and its development.
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Agresión/psicología , Lesiones Traumáticas del Encéfalo/psicología , Trastorno de la Conducta/diagnóstico , Pruebas Psicológicas/normas , Encuestas y Cuestionarios/normas , Adolescente , Adulto , Niño , Trastorno de la Conducta/psicología , Femenino , Humanos , Masculino , Variaciones Dependientes del Observador , Psicometría , Reproducibilidad de los Resultados , Adulto JovenRESUMEN
BACKGROUND: Many evidences report that alternative splicing, the mechanism which produces mRNAs and proteins with different structures and functions from the same gene, is altered in cancer cells. Thus, the identification and characterization of cancer-specific splice variants may give large impulse to the discovery of novel diagnostic and prognostic tumour biomarkers, as well as of new targets for more selective and effective therapies. RESULTS: We present here a genome-wide analysis of the alternative splicing pattern of human genes through a computational analysis of normal and cancer-specific ESTs from seventeen anatomical groups, using data available in AspicDB, a database resource for the analysis of alternative splicing in human. By using a statistical methodology, normal and cancer-specific genes, splice sites and cassette exons were predicted in silico. The condition association of some of the novel normal/tumoral cassette exons was experimentally verified by RT-qPCR assays in the same anatomical system where they were predicted. Remarkably, the presence in vivo of the predicted alternative transcripts, specific for the nervous system, was confirmed in patients affected by glioblastoma. CONCLUSION: This study presents a novel computational methodology for the identification of tumor-associated transcript variants to be used as cancer molecular biomarkers, provides its experimental validation, and reports specific biomarkers for glioblastoma.