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1.
PLoS One ; 19(9): e0309111, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39348341

RESUMO

The epidemiological relevance of viral acute respiratory infections (ARIs) has been dramatically highlighted by COVID-19. However, other viruses cannot be neglected, such as influenza virus, respiratory syncytial virus, human adenovirus. These viruses thrive in closed spaces, influenced by human and environmental factors. High-risk closed communities are the most vulnerable settings, where the real extent of viral ARIs is often difficult to evaluate, due to the natural disease progression and case identification complexities. During the COVID-19 pandemic, wastewater-based epidemiology has demonstrated its great potential for monitoring the circulation and evolution of the virus in the environment. The "Prevention of ARIs in indoor environments and vulnerable communities" study (Stell-ARI) addresses the urgent need for integrated surveillance and early detection of ARIs within enclosed and vulnerable communities such as long-term care facilities, prisons and primary schools. The rapid transmission of ARIs in such environments underscores the importance of comprehensive surveillance strategies to minimise the risk of outbreaks and safeguard community health, enabling proactive prevention and control strategies to protect the health of vulnerable populations. This study consists of designing and validating tools for integrated clinical and environmental-based surveillance for each setting, coupled with analytical methods for environmental matrices. The clinical surveillance involves specialized questionnaires and nasopharyngeal swabs for virus identification, while the environmental surveillance includes air and surface microbiological and chemical monitoring, and virological analysis of wastewater. Integrating this information and the collection of behavioural and environmental risk factors into predictive and risk assessment models will provide a useful tool for early warning, risk assessment and informed decision-making. The study aims to integrate clinical, behavioural, and environmental data to establish and validate a predictive model and risk assessment tool for the early warning and risk management of viral ARIs in closed and vulnerable communities prior to the onset of an outbreak.


Assuntos
COVID-19 , Infecções Respiratórias , Humanos , Infecções Respiratórias/prevenção & controle , Infecções Respiratórias/epidemiologia , Infecções Respiratórias/virologia , Infecções Respiratórias/diagnóstico , COVID-19/prevenção & controle , COVID-19/epidemiologia , SARS-CoV-2/isolamento & purificação , Monitoramento Ambiental/métodos , Populações Vulneráveis , Doença Aguda
2.
World J Emerg Surg ; 19(1): 23, 2024 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-38851757

RESUMO

Intra-abdominal infections (IAIs) are common surgical emergencies and are an important cause of morbidity and mortality in hospital settings, particularly if poorly managed. The cornerstones of effective IAIs management include early diagnosis, adequate source control, appropriate antimicrobial therapy, and early physiologic stabilization using intravenous fluids and vasopressor agents in critically ill patients. Adequate empiric antimicrobial therapy in patients with IAIs is of paramount importance because inappropriate antimicrobial therapy is associated with poor outcomes. Optimizing antimicrobial prescriptions improves treatment effectiveness, increases patients' safety, and minimizes the risk of opportunistic infections (such as Clostridioides difficile) and antimicrobial resistance selection. The growing emergence of multi-drug resistant organisms has caused an impending crisis with alarming implications, especially regarding Gram-negative bacteria. The Multidisciplinary and Intersociety Italian Council for the Optimization of Antimicrobial Use promoted a consensus conference on the antimicrobial management of IAIs, including emergency medicine specialists, radiologists, surgeons, intensivists, infectious disease specialists, clinical pharmacologists, hospital pharmacists, microbiologists and public health specialists. Relevant clinical questions were constructed by the Organizational Committee in order to investigate the topic. The expert panel produced recommendation statements based on the best scientific evidence from PubMed and EMBASE Library and experts' opinions. The statements were planned and graded according to the Grading of Recommendations Assessment, Development and Evaluation (GRADE) hierarchy of evidence. On November 10, 2023, the experts met in Mestre (Italy) to debate the statements. After the approval of the statements, the expert panel met via email and virtual meetings to prepare and revise the definitive document. This document represents the executive summary of the consensus conference and comprises three sections. The first section focuses on the general principles of diagnosis and treatment of IAIs. The second section provides twenty-three evidence-based recommendations for the antimicrobial therapy of IAIs. The third section presents eight clinical diagnostic-therapeutic pathways for the most common IAIs. The document has been endorsed by the Italian Society of Surgery.


Assuntos
Infecções Intra-Abdominais , Humanos , Infecções Intra-Abdominais/tratamento farmacológico , Itália , Anti-Infecciosos/uso terapêutico , Antibacterianos/uso terapêutico
3.
Pathogens ; 12(9)2023 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-37764948

RESUMO

Antimicrobial resistance (AMR) presents a growing threat to global healthcare. This descriptive epidemiological study investigates the prevalence and characteristics of Enterobacterales with AMR factors in a tertiary teaching hospital in Italy over the course of the year 2021. In 2021, the prevalence of colonisation by Enterobacterales with AMR factors in patients was 1.08%. During the observation period, a total of 8834 rectal swabs were performed, with 1453 testing positive. A total of 5639 rectal swabs were performed according to a hospital procedure for the active screening of MDRO colonisation at the time of admission. Of these, 679 were positive for microorganisms under surveillance, and 74 patients were colonised with Enterobacterales, predominantly Klebsiella pneumoniae and Escherichia coli. Antibiotic resistance factors were observed in 61 of these 74 patients (82.43%) of these patients, with NDM and KPC being the most frequent resistance factors. A statistically significant trend in positive swabs was observed across different ward categories (surgery, ICUs, and medical wards). Regarding specific trends, the rate of positive admission screening in medical and surgical wards was higher than in ICU wards. The results highlight the ease with which Enterobacterales develops resistance across different ward categories. The findings underscore the need for adjusted screening protocols and tailored infection prevention strategies in various care settings.

4.
Cells ; 12(7)2023 03 23.
Artigo em Inglês | MEDLINE | ID: mdl-37048050

RESUMO

Although adult stem cells may be useful for studying tissue-specific diseases, they cannot be used as a general model for investigating human illnesses given their limited differentiation potential. Multilineage-differentiating stress-enduring (Muse) stem cells, a SSEA3(+) cell population isolated from mesenchymal stromal cells, fat, and skin fibroblasts, may be able to overcome that restriction. The Muse cells present in fibroblast cultures obtained from biopsies of patients' skin may be differentiated into cells of interest for analyzing diseases. We isolated Muse stem cells from patients with an intellectual disability (ID) and mutations in the IQSEC2 gene (i.e., BRAG1 gene) and induced in vitro neuroglial differentiation to study cell commitment and the differentiation of neural lineages. The neuroglial differentiation of Muse cells revealed that IQSEC2 mutations may alter the self-renewal and lineage specification of stem cells. We observed a decrease in the percentage of SOX2 (+) neural stem cells and neural progenitors (i.e., SOX2+ and NESTIN+) in cultures obtained from Muse cells with the mutated IQSEC2 gene. The alteration in the number of stem cells and progenitors produced a bias toward the astrocytes' differentiation. Our research demonstrates that Muse stem cells may represent a new cell-based disease model.


Assuntos
Diferenciação Celular , Células-Tronco Mesenquimais , Neuroglia , Humanos , Fibroblastos , Fatores de Troca do Nucleotídeo Guanina
5.
J Cardiothorac Vasc Anesth ; 36(3): 699-706, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-33994318

RESUMO

OBJECTIVES: To describe the incidence, associated characteristics, and outcomes of the maximum severity of acute kidney injury (AKI) in a heterogeneous population of critically ill children with cardiac disease. DESIGN: Retrospective cohort study. SETTING: Pediatric cardiac intensive care unit (PCICU). PARTICIPANTS: Patients admitted to the PCICU. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: From January 2018 to July 2020 all patients admitted to a tertiary PCICU were included. Only the first admission was considered. Neonates ≤seven days old were excluded. Of 742 patients, 53 were medical cases, 69 catheterization laboratory cases, and 620 surgical cases (with five subgroups). The median age was 2.47 years (interquartile range [IQR], 0.38-9.85 years), with a median Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery score of 2 (IQR, 1-3). Median PCICU length of stay was three days (IQR, 2-7 days), and 21 (2.8%) patients died. Any incidence of AKI occurred in 70% of patients, 26% of which were classified as mild (stage 1) and 43% as severe (stages 2 and 3). AKI was diagnosed by urine output criteria in 56%, serum creatinine in 28%, and both in 16% of patients. Severe AKI occurred in subgroups as follows: medical (38%), catheterization laboratory (45%), correction (35%), palliation (55%), transplantation (85%), mechanical assistance (70%), and redo surgery (58%). Severe AKI patients were significantly older (p = 0.004), had a higher Pediatric Index of Mortality 3 score (p = 0.0004), had a higher cumulative fluid balance (p < 0.0001), and had a longer cardiopulmonary bypass time (p < 0.0001). Early AKI (≤24 hours from admission) was the most frequent presentation, with a greater proportion of severe cases in the early group compared with the intermediate (>24 and ≤48 hours) and late (>48 hours) (p < 0.0001) groups. Presentation of late severe AKI had a higher mortality (odds ratio, 4.9; 95% confidence interval, 1.8-15; p = 0.001). CONCLUSIONS: Severe AKI occurs in 43% of cardiac children and is diagnosed early, most often by urine output criteria. Severe AKI incidence varies significantly within subgroups of cardiac patients. Late AKI is associated with worse outcomes.


Assuntos
Injúria Renal Aguda , Injúria Renal Aguda/diagnóstico , Injúria Renal Aguda/epidemiologia , Injúria Renal Aguda/etiologia , Criança , Pré-Escolar , Creatinina , Cuidados Críticos , Humanos , Lactente , Recém-Nascido , Unidades de Terapia Intensiva , Estudos Retrospectivos , Fatores de Risco
6.
Monaldi Arch Chest Dis ; 92(2)2021 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-34818883

RESUMO

Malnutrition is highly prevalent among hospitalized patients; thus, an accurate identification of malnutrition could improve the outcome of these patients. The aim of the present paper was to apply multiple methods to evaluate the prevalence of malnutrition and clinical correlates in patients admitted to in-hospital cardiac rehabilitation.  We performed a prospective study of 426 patients admitted to in-hospital cardiac rehabilitation: 282 (66.2%) had undergone a major cardiac surgery and 144 (34.8%) had experienced heart failure. The albumin level and Mini Nutritional Assessment (MNA) scores were applied to evaluate the nutritional status of these patients. Serum albumin levels were < 3.5 g/dl in 147 (34.5%) patients, and MNA scores were < 24 in 179 (42.0%) patients. Patients with malnutrition or a risk of malnutrition had lower haemoglobin values, lower EuroQol scores and poorer functional status. Female gender, age, functional status and Cumulative Illness Rating Scale severity were predictors of malnutrition. Over a median follow-up of 47 months, MNA scores <24 were associated with higher mortality, even after correction for confounding variables. In conclusion, in patients admitted to in-hospital cardiac rehabilitation, malnutrition and risk of malnutrition frequently occur and are associated with poor functional status, higher clinical complication rates and long-term mortality.


Assuntos
Reabilitação Cardíaca , Desnutrição , Idoso , Feminino , Avaliação Geriátrica , Hospitalização , Hospitais , Humanos , Desnutrição/complicações , Desnutrição/epidemiologia , Avaliação Nutricional , Estudos Prospectivos
8.
Front Cardiovasc Med ; 8: 709872, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34447793

RESUMO

Iron deficiency (ID) is one of the most frequent comorbidities in patients with heart failure (HF). ID is estimated to be present in up to 50% of outpatients and is a strong independent predictor of HF outcomes. ID has been shown to reduce quality of life, exercise capacity and survival, in both the presence and absence of anemia. The most recent 2016 guidelines recommend starting replacement treatment at ferritin cutoff value <100 mcg/l or between 100 and 299 mcg/l when the transferrin saturation is <20%. Beyond its effect on hemoglobin, iron plays an important role in oxygen transport and in the metabolism of cardiac and skeletal muscles. Mitochondria are the most important sites of iron utilization and energy production. These factors clearly have roles in the diminished exercise capacity in HF. Oral iron administration is usually the first route used for iron repletion in patients. However, the data from the IRONOUT HF study do not support the use of oral iron supplementation in patients with HF and a reduced ejection fraction, because this treatment does not affect peak VO2 (the primary endpoint of the study) or increase serum ferritin levels. The FAIR-HF and CONFIRM-HF studies have shown improvements in symptoms, quality of life and functional capacity in patients with stable, symptomatic, iron-deficient HF after the administration of intravenous iron (i.e., FCM). Moreover, they have shown a decreased risk of first hospitalization for worsening of HF, as later confirmed in a subsequent meta-analysis. In addition, the EFFECT-HF study has shown an improvement in peak oxygen consumption at CPET (a parameter generally considered the gold standard of exercise capacity and a predictor of outcome in HF) in patients randomized to receive ferric carboxymaltose. Finally, the AFFIRM AHF trial evaluating the effects of FCM administration on the outcomes of patients hospitalized for acute HF has found significantly fewer hospital readmissions due to HF among patients treated with FCM rather than placebo.

9.
Front Med (Lausanne) ; 8: 668173, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34307404

RESUMO

Objective: To describe the role of biotechnological therapies in patients with tumor necrosis factor receptor associated periodic syndrome (TRAPS) and to identify any predictor of complete response. Methods: Clinical, laboratory, and therapeutic data from 44 Caucasian TRAPS patients treated with biologic agents were retrospectively collected in 16 Italian tertiary Centers. Results: A total of 55 biological courses with anakinra (n = 26), canakinumab (n = 16), anti-TNF-α agents (n = 10), and tocilizumab (n = 3) were analyzed. A complete response was observed in 41 (74.5%) cases, a partial response in 9 (16.4%) cases and a treatment failure in 5 (9.1%) cases. The frequency of TRAPS exacerbations was 458.2 flare/100 patients-year during the 12 months prior to the start of biologic treatment and 65.7 flare/100 patients-years during the first 12 months of therapy (p < 0.0001). The median duration of attacks was 5.00 (IQR = 10.50) days at the start of biologics and 1.00 (IQR = 0.00) days at the 12-month assessment (p < 0.0001). Likewise, a significant reduction was observed in the Autoinflammatory Disease Activity Index during the study period (p < 0.0001). A significant corticosteroid sparing effect was observed as early as the first 12 months of treatment both in the number of patients requiring corticosteroids (p = 0.025) and in the dosages employed (p < 0.0001). A significant reduction was identified in the erythrocyte sedimentation rate (p < 0.0001), C reactive protein (p < 0.0001), serum amyloid A (p < 0.0001), and in the 24-h proteinuria dosage during follow-up (p = 0.001). A relapsing-remitting disease course (OR = 0.027, C.I. 0.001-0.841, p = 0.040) and the frequency of relapses at the start of biologics (OR = 0.363, C.I. 0.301-0.953, p = 0.034) were significantly associated with a complete response. No serious adverse events were observed. Conclusions: Treatment with biologic agents is highly effective in controlling clinical and laboratory TRAPS manifestations. Patients with a relapsing-remitting course and a lower frequency of flares at the start of treatment show more likely a complete response to biologic agents.

10.
Front Oncol ; 11: 649435, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34026625

RESUMO

Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a condition in which the risk of breast and ovarian cancer is higher than in the general population. The prevalent pathogenesis is attributable to inactivating variants of the BRCA1-2 highly penetrant genes, however, other cancer susceptibility genes may also be involved. By Exome Sequencing (WES) we analyzed a series of 200 individuals selected for genetic testing in BRCA1-2 genes according to the updated National Comprehensive Cancer Network (NCCN) guidelines. Analysis by MLPA was performed to detect large BRCA1-2 deletions/duplications. Focusing on BRCA1-2 genes, data analysis identified 11 cases with pathogenic variants (4 in BRCA1 and 7 in BRCA1-2) and 12 with uncertain variants (7 in BRCA1 and 5 in BRCA2). Only one case was found with a large BRCA1 deletion. Whole exome analysis allowed to characterize pathogenic variants in 21 additional genes: 10 genes more traditionally associated to breast and ovarian cancer (ATM, BRIP1, CDH1, PALB2, PTEN, RAD51C, and TP53) (5% diagnostic yield) and 11 in candidate cancer susceptibility genes (DPYD, ERBB3, ERCC2, MUTYH, NQO2, NTHL1, PARK2, RAD54L, and RNASEL). In conclusion, this study allowed a personalized risk assessment and clinical surveillance in an increased number of HBOC families and to broaden the spectrum of causative variants also to candidate non-canonical genes.

11.
Ital J Pediatr ; 46(1): 141, 2020 Sep 29.
Artigo em Inglês | MEDLINE | ID: mdl-32993748

RESUMO

BACKGROUND: People increasingly search online for health information. Particularly, parents of patients often use the Internet as a source for health information. We conducted a survey to investigate the online searching behavior of parents of patients < 18 years, admitted for surgery in an Italian pediatric hospital. METHODS: The cross-sectional survey was nested in a prospective cohort study on surgical procedures. Parents of patients undergoing surgical procedures at Bambino Gesù Children's Hospital, Rome, Italy, were enrolled and contacted by phone after the procedure. We recorded socio-demographic data, sex, length of stay following surgery, proximity of residence to the hospital, use of the internet to search for information on the surgery before and after the intervention and effect of information found online. RESULTS: The majority (91%) of parents of children undergoing surgical intervention used the internet. Of these, 74.3% of parents searched for information before surgery, and 26.1% searched for information after. Most parents searched for information on the care provider's website. Two thirds of parents reported that information found online had increased their understanding of the child's condition. Multivariate analyses indicated that families living far from the hospital (> 43 km) were more likely to search for health information (OR 2.3; 95% CI 1.34-4.00), as were families of patients undergoing a major surgery (OR = 2.1; 95% CI 1.04-4.11). CONCLUSIONS: Parents of children undergoing surgery often search online for information on their child's intervention, in particular those whose child is scheduled for a major surgery and those living far from the hospital. A survey like the present one allows to understand parents' information needs, to better guide them in online information seeking and to better tailor information provided on the care provider's website.


Assuntos
Comportamento de Busca de Informação , Internet , Pais/psicologia , Procedimentos Cirúrgicos Operatórios , Criança , Estudos Transversais , Feminino , Hospitais Pediátricos , Humanos , Itália , Masculino , Estudos Prospectivos , Inquéritos e Questionários
12.
Eur J Hum Genet ; 28(10): 1446-1458, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32541681

RESUMO

Variations in the Forkhead Box G1 (FOXG1) gene cause FOXG1 syndrome spectrum, including the congenital variant of Rett syndrome, characterized by early onset of regression, Rett-like and jerky movements, and cortical visual impairment. Due to the largely unknown pathophysiological mechanisms downstream the impairment of this transcriptional regulator, a specific treatment is not yet available. Since both haploinsufficiency and hyper-expression of FOXG1 cause diseases in humans, we reasoned that adding a gene under nonnative regulatory sequences would be a risky strategy as opposed to a genome editing approach where the mutated gene is reversed into wild-type. Here, we demonstrate that an adeno-associated viruses (AAVs)-coupled CRISPR/Cas9 system is able to target and correct FOXG1 variants in patient-derived fibroblasts, induced Pluripotent Stem Cells (iPSCs) and iPSC-derived neurons. Variant-specific single-guide RNAs (sgRNAs) and donor DNAs have been selected and cloned together with a mCherry/EGFP reporter system. Specific sgRNA recognition sequences were inserted upstream and downstream Cas9 CDS to allow self-cleavage and inactivation. We demonstrated that AAV serotypes vary in transduction efficiency depending on the target cell type, the best being AAV9 in fibroblasts and iPSC-derived neurons, and AAV2 in iPSCs. Next-generation sequencing (NGS) of mCherry+/EGFP+ transfected cells demonstrated that the mutated alleles were repaired with high efficiency (20-35% reversion) and precision both in terms of allelic discrimination and off-target activity. The genome editing strategy tested in this study has proven to precisely repair FOXG1 and delivery through an AAV9-based system represents a step forward toward the development of a therapy for Rett syndrome.


Assuntos
Sistemas CRISPR-Cas , Fatores de Transcrição Forkhead/genética , Edição de Genes/métodos , Proteínas do Tecido Nervoso/genética , Síndrome de Rett/genética , Adulto , Transdiferenciação Celular , Células Cultivadas , Técnicas de Reprogramação Celular/métodos , Pré-Escolar , Dependovirus/genética , Feminino , Fibroblastos/citologia , Fibroblastos/metabolismo , Fatores de Transcrição Forkhead/metabolismo , Terapia Genética/métodos , Humanos , Células-Tronco Pluripotentes Induzidas/citologia , Células-Tronco Pluripotentes Induzidas/metabolismo , Masculino , Proteínas do Tecido Nervoso/metabolismo , Neurônios/citologia , Neurônios/metabolismo , Síndrome de Rett/patologia , Síndrome de Rett/terapia
13.
Neurol Sci ; 41(11): 3345-3348, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32440981

RESUMO

INTRODUCTION: Berardinelli-Seip syndrome or congenital generalized lipodystrophy type 2 is a rare genetic disorder characterized by selective loss of subcutaneous adipose tissue associated with peripheral insulin resistance and its complications. Nonprogressive mental retardation, dystonia, ataxia, and pyramidal signs are commonly present, whereas epilepsy has only occasionally been observed. CASE REPORT: We report the case of two sisters, 11 and 18 years old respectively, with an overlapping clinical phenotype compatible with Berardinelli-Seip syndrome and progressive myoclonic epilepsy. Molecular analysis identified an autosomal recessive c.1048C > t;(p(Arg350*)) pathogenic mutation of exon 8 of the BSCL2 gene, which was present in a homozygous state in both patients. CONCLUSIONS: Our paper contributes to further delineate a complex phenotype associated with BSCL2 mutation, underlining how seipin has a central and partially still unknown role that goes beyond adipose tissue metabolism, with a prominent involvement in central nervous system pathology.


Assuntos
Subunidades gama da Proteína de Ligação ao GTP , Lipodistrofia Generalizada Congênita , Epilepsias Mioclônicas Progressivas , Tecido Adiposo , Adolescente , Criança , Subunidades gama da Proteína de Ligação ao GTP/genética , Humanos , Lipodistrofia Generalizada Congênita/complicações , Lipodistrofia Generalizada Congênita/diagnóstico , Lipodistrofia Generalizada Congênita/genética , Epilepsias Mioclônicas Progressivas/genética , Fenótipo
14.
Front Pediatr ; 7: 152, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31106183

RESUMO

Background: Viral respiratory tract infections (VRI) are a major reason for hospitalization in children younger than 5 years. A case control study was conducted to investigate the potential role of breastfeeding in protecting children <1 year of age from VRI. Methods: Patients admitted for a respiratory tract infections routinely underwent a nasopharyngeal aspirate, which was tested with an RT-PCR for 14 respiratory viruses. Hospitalized infants positive for viruses were enrolled as cases; healthy controls were enrolled among patients admitted for ultrasound hip screening. The effect of breastfeeding on pertussis was investigated through multivariable analysis. Results: We enrolled a total of 496 patients: 238 cases and 258 healthy controls. Among cases, eighty-six patients (36.1%) had a rinovirus, 78 (32.8%) an RSV, 22 (9.2%) an adenovirus, and 37 (15.5%) a coinfections with multiple viruses. The number of households was significantly higher in cases (mean in cases 4.5; mean 3.7 in controls, p < 0.001) and the proportion of infants having siblings (79% in cases vs. 43% in controls, p < 0.001). Proportion of smoking mothers was higher in cases than in controls (21.4 vs. 10.1%, p = 0.001). Among cases 44.5% were exclusively breastfed at symptoms onset vs. 48.8% of healthy controls. According to the multivariable analysis, being exclusively breastfed at symptom onset was associated with a higher risk of viral respiratory infection (3.7; 95% CI 1.64-8.41), however a longer breastfeeding duration was protective (OR 0.98; 95% CI 0.97-0.99). Also having at least one sibling was associated to a higher risk (OR 3.6; 95% CI 2.14-5.92) as well as having a smoking mother (OR 2.6; 95% CI 1.33-4.89). Conclusions: Breastfeeding remains a mainstay of prevention for numerous diseases and its protective role increases with duration. However, being breastfed when mothers carry a respiratory infection may increase the risk of transmission, acting as a proxy for closer contacts. In future studies, potential confounding variables as pattern of contacts with other individuals, should be taken into account.

15.
Cancers (Basel) ; 11(3)2019 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-30832263

RESUMO

Highly penetrant variants of BRCA1/2 genes are involved in hereditary predisposition to breast and ovarian cancer. The detection of pathogenic BRCA variants has a considerable clinical impact, allowing appropriate cancer-risk management. However, a major drawback is represented by the identification of variants of uncertain significance (VUS). Many VUS potentially affect mRNA splicing, making transcript analysis an essential step for the definition of their pathogenicity. Here, we characterize the impact on splicing of ten BRCA1/2 variants. Aberrant splicing patterns were demonstrated for eight variants whose alternative transcripts were fully characterized. Different events were observed, including exon skipping, intron retention, and usage of de novo and cryptic splice sites. Transcripts with premature stop codons or in-frame loss of functionally important residues were generated. Partial/complete splicing effect and quantitative contribution of different isoforms were assessed, leading to variant classification according to Evidence-based Network for the Interpretation of Mutant Alleles (ENIGMA) consortium guidelines. Two variants could be classified as pathogenic and two as likely benign, while due to a partial splicing effect, six variants remained of uncertain significance. The association with an undefined tumor risk justifies caution in recommending aggressive risk-reduction treatments, but prevents the possibility of receiving personalized therapies with potential beneficial effect. This indicates the need for applying additional approaches for the analysis of variants resistant to classification by gene transcript analyses.

16.
Euro Surveill ; 24(6)2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30755294

RESUMO

BackgroundPaediatrician recommendations are known to influence parental vaccine decisions.AimOur aim was to examine vaccination knowledge, attitudes and practices among paediatricians in Italy and identify factors associated with their confidence in addressing parental questions.MethodsAn electronic questionnaire survey was conducted from February to March 2016, among a sample of Italian paediatricians.ResultsThe survey was completed by 903 paediatricians (mean age: 56 years). Of 885 who responded to the specific question, 843 (95.3%) were completely favourable to vaccinations. Sixty-six per cent (570/862) felt sufficiently knowledgeable about vaccinations and vaccine-preventable diseases to confidently discuss them with parents. Paediatricians who were male, who were 55 years or older, who had participated in training courses in the last 5 years, who reported that taking courses and reading the scientific literature had contributed to their knowledge, or who had implemented vaccination promotion activities, felt more knowledgeable than other paediatricians. When asked to rate their level of agreement with statements about vaccine safety and effectiveness, only 8.9% (80/903) responded fully as expected. One third (294/878) did not systematically verify that their patients are up to date with the immunisation schedule. Only 5.4% (48/892) correctly identified all true and false contraindications.ConclusionsThe majority of paediatricians in Italy are favourable to vaccination but gaps were identified between their overall positive attitudes and their knowledge, beliefs and practices. Targeted interventions are needed aimed at increasing paediatricians' confidence in addressing parents' concerns, strengthening trust towards health authorities and improving systems barriers.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Pais/psicologia , Pediatras , Padrões de Prática Médica/estatística & dados numéricos , Vacinação , Vacinas/administração & dosagem , Adulto , Idoso , Criança , Competência Clínica , Feminino , Humanos , Programas de Imunização , Itália , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Vacinação/efeitos adversos , Instituições Filantrópicas de Saúde
17.
Euro Surveill ; 22(39)2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29019306

RESUMO

An autochthonous chikungunya outbreak is ongoing near Anzio, a coastal town in the province of Rome. The virus isolated from one patient and mosquitoes lacks the A226V mutation and belongs to an East Central South African strain. As of 20 September, 86 cases are laboratory-confirmed. The outbreak proximity to the capital, its late summer occurrence, and diagnostic delays, are favouring transmission. Vector control, enhanced surveillance and restricted blood donations are being implemented in affected areas.


Assuntos
Aedes/virologia , Febre de Chikungunya/diagnóstico , Vírus Chikungunya/genética , Vírus Chikungunya/isolamento & purificação , Surtos de Doenças , Animais , Anticorpos Antivirais , Febre de Chikungunya/epidemiologia , Febre de Chikungunya/prevenção & controle , Surtos de Doenças/prevenção & controle , Feminino , Humanos , Insetos Vetores/virologia , Itália/epidemiologia , Filogenia , Reação em Cadeia da Polimerase , Proteínas do Envelope Viral/genética
18.
Euro Surveill ; 22(30)2017 07 27.
Artigo em Inglês | MEDLINE | ID: mdl-28797322

RESUMO

We conducted a multicentre test-negative case-control study in 27 hospitals of 11 European countries to measure 2015/16 influenza vaccine effectiveness (IVE) against hospitalised influenza A(H1N1)pdm09 and B among people aged ≥ 65 years. Patients swabbed within 7 days after onset of symptoms compatible with severe acute respiratory infection were included. Information on demographics, vaccination and underlying conditions was collected. Using logistic regression, we measured IVE adjusted for potential confounders. We included 355 influenza A(H1N1)pdm09 cases, 110 influenza B cases, and 1,274 controls. Adjusted IVE against influenza A(H1N1)pdm09 was 42% (95% confidence interval (CI): 22 to 57). It was 59% (95% CI: 23 to 78), 48% (95% CI: 5 to 71), 43% (95% CI: 8 to 65) and 39% (95% CI: 7 to 60) in patients with diabetes mellitus, cancer, lung and heart disease, respectively. Adjusted IVE against influenza B was 52% (95% CI: 24 to 70). It was 62% (95% CI: 5 to 85), 60% (95% CI: 18 to 80) and 36% (95% CI: -23 to 67) in patients with diabetes mellitus, lung and heart disease, respectively. 2015/16 IVE estimates against hospitalised influenza in elderly people was moderate against influenza A(H1N1)pdm09 and B, including among those with diabetes mellitus, cancer, lung or heart diseases.


Assuntos
Hospitalização/estatística & dados numéricos , Vírus da Influenza A Subtipo H1N1/imunologia , Vírus da Influenza B/imunologia , Vacinas contra Influenza/administração & dosagem , Influenza Humana/prevenção & controle , Potência de Vacina , Idoso , Idoso de 80 Anos ou mais , Europa (Continente)/epidemiologia , Feminino , Humanos , Vírus da Influenza A Subtipo H1N1/isolamento & purificação , Vírus da Influenza B/isolamento & purificação , Vacinas contra Influenza/imunologia , Influenza Humana/epidemiologia , Influenza Humana/virologia , Modelos Logísticos , Masculino , Avaliação de Resultados em Cuidados de Saúde , Estações do Ano , Vigilância de Evento Sentinela , Vacinação/estatística & dados numéricos
19.
ACS Appl Mater Interfaces ; 9(29): 24812-24820, 2017 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-28657706

RESUMO

A deepened investigation on an innovative organic-inorganic hybrid material, referred to as ECS-14 (where ECS = Eni carbon silicates), revealed the possibility to use them as gas sensors. Indeed, among ECS phases, the crystalline state and the hexagonal microplateletlike morphology characteristic of ECS-14 seemed favorable properties to obtain continuous and uniform films. ECS-14 phase was used as functional material in screen-printable compositions and was thus deposited by drop coating for morphological, structural, thermal, and electrical characterizations. Possible operation at room temperature was investigated as technological progress, offering intrinsic safety in sensors working in harsh or industrial environments and avoiding high power consumption of most common sensors based on metal oxide semiconductors. Electrical characterization of the sensors based on ECS-14 versus concentrations of gaseous analytes gave significant results at room temperature in the presence of humidity, thereby demonstrating fundamental properties for a good quality sensor (speed, reversibility, and selectivity) that make them competitive with respect to systems currently in use. Remarkably, we observed functionality reversal of the organic and inorganic components; that is, in contrast to other hybrids, for ECS-14 the functional site has been ascribed to the inorganic phase while the organic component provided structural stability to the material. The sensing mechanism for humidity was also investigated.

20.
World J Cardiol ; 8(8): 447-55, 2016 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-27621772

RESUMO

The 12-lead electrocardiogram (ECG) is still the most used tool in cardiology clinical practice. Considering its easy accessibility, low cost and the information that it provides, it remains the starting point for diagnosis and prognosis. More specifically, its ability to detect prognostic markers for sudden cardiac death due to arrhythmias by identifying specific patterns that express electrical disturbances of the heart muscle, which may predispose to malignant arrhythmias, is universally recognized. Alterations in the ventricular repolarization process, identifiable on a 12-lead ECG, play a role in the genesis of ventricular arrhythmias in different cardiac diseases. The aim of this paper is to focus the attention on a new marker of arrhythmic risk, the early repolarization pattern in order to highlight the prognostic role of the 12-lead ECG.

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