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1.
BMC Infect Dis ; 24(1): 362, 2024 Mar 29.
Artículo en Inglés | MEDLINE | ID: mdl-38553731

RESUMEN

This comprehensive retrospective data-linkage study aimed at evaluating the impact of Direct-Acting Antivirals (DAAs) on Hepatitis C Virus (HCV) testing, treatment trends, and access to care in Tuscany over six years following their introduction. Utilizing administrative healthcare records, our work reveals a substantial increase in HCV tests in 2017, attributed to the decision to provide universal access to treatment. However, despite efforts to eradicate chronic HCV through a government-led plan, the target of treating 6,221 patients annually was not met, and services contracted after 2018, exacerbated by the COVID-19 pandemic. Key findings indicate a higher prevalence of HCV screening among females in the 33-53 age group, influenced by pregnancy-related recommendations, while diagnostic tests and treatment uptake were more common among males. Problematic substance users constituted a significant proportion of those tested and treated, emphasizing their priority in HCV screening. Our paper underscores the need for decentralized HCV models and alternative testing strategies, such as point-of-care assays, especially in populations accessing harm reduction services, communities, and prisons. The study acknowledges limitations in relying solely on administrative records, advocating for improved data access and timely linkages to accurately monitor HCV care cascades and inform regional plans. Despite challenges, the paper demonstrates the value of administrative record linkages in understanding the access to care pathway for hard-to-reach populations. The findings emphasize the importance of the national HCV elimination strategy and the need for enhanced data collection to assess progress accurately, providing insights for future regional and national interventions.


Asunto(s)
Hepatitis C Crónica , Hepatitis C , Abuso de Sustancias por Vía Intravenosa , Masculino , Embarazo , Femenino , Humanos , Hepacivirus , Hepatitis C Crónica/diagnóstico , Hepatitis C Crónica/tratamiento farmacológico , Hepatitis C Crónica/epidemiología , Estudios Retrospectivos , Antivirales/uso terapéutico , Pandemias , Hepatitis C/diagnóstico , Hepatitis C/tratamiento farmacológico , Hepatitis C/epidemiología , Abuso de Sustancias por Vía Intravenosa/epidemiología
2.
BMC Infect Dis ; 24(1): 388, 2024 Apr 11.
Artículo en Inglés | MEDLINE | ID: mdl-38605310

RESUMEN

BACKGROUND: Respiratory syncytial virus (RSV) infection in children under 5 years have a significant clinical burden, also in primary care settings. This study investigates the epidemiology and burden of RSV in Italian children during the 2019/20 pre-pandemic winter season. METHODS: A prospective cohort study was conducted in two Italian regions. Children with Acute Respiratory Infection (ARI) visiting pediatricians were eligible. Nasopharyngeal swabs were collected and analyzed via multiplex PCR for RSV detection. A follow-up questionnaire after 14 days assessed disease burden, encompassing healthcare utilization and illness duration. Statistical analyses, including regression models, explored associations between variables such as RSV subtype and regional variations. RESULTS: Of 293 children with ARI, 41% (119) tested positive for RSV. Median illness duration for RSV-positive cases was 7 days; 6% required hospitalization (median stay: 7 days). Medication was prescribed to 95% (110/116) of RSV cases, with 31% (34/116) receiving antibiotics. RSV subtype B and regional factors predicted increased healthcare utilization. Children with shortness of breath experienced a 36% longer illness duration. CONCLUSIONS: This study highlights a significant clinical burden and healthcare utilization associated with RSV in pre-pandemic Italian primary care settings. Identified predictors, including RSV subtype and symptomatology, indicate the need for targeted interventions and resource allocation strategies. RSV epidemiology can guide public health strategies for the implementation of preventive measures.


Asunto(s)
COVID-19 , Infecciones por Virus Sincitial Respiratorio , Virus Sincitial Respiratorio Humano , Infecciones del Sistema Respiratorio , Niño , Humanos , Lactante , Preescolar , Virus Sincitial Respiratorio Humano/genética , Hospitalización , Estaciones del Año , Estudios Prospectivos , Pandemias , COVID-19/epidemiología , Infecciones por Virus Sincitial Respiratorio/epidemiología , Infecciones del Sistema Respiratorio/epidemiología , Italia/epidemiología , Atención Primaria de Salud
3.
Heart Fail Rev ; 28(3): 683-695, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-34725782

RESUMEN

Diabetic patients frequently develop heart failure with preserved (HFpEF) or mid-range (HFmEF) cardiac ejection fractions. This condition may be secondary to diabetic cardiomyopathy or one of several relevant comorbidities, mainly hypertension. Several mechanisms link diabetes to HFpEF or HFmEF. Among these, non-enzymatic glycation of interstitial proteins, lipotoxicity, and endothelial dysfunction may promote structural damage and ultimate lead to heart failure. Findings from several large-scale trials indicated that treatment with sodium/glucose cotransporter 2 inhibitors (SGLT2-iss) resulted in significant improvements in cardiovascular outcomes in diabetic patients with high cardiovascular risk. However, there is currently some evidence that suggests a clinical advantage of using SGLT2-iss specifically in cases of HFpEF or HFmEF. Preclinical and clinical studies revealed that SGLT2-iss treatment results in a reduction in left ventricular mass and improved diastolic function. While some of the beneficial effects of SGLT2-iss have already been characterized (e.g., increased natriuresis and diuresis as well as reduced blood pressure, plasma volume, and arterial stiffness, and nephron-protective activities), there is increasing evidence suggesting that SGLT2-iss may have direct actions on the heart. These findings include SGLT2-iss-mediated reductions in the expression of hypertrophic foetal genes and diastolic myofilaments stiffness, increases in global phosphorylation of myofilament regulatory proteins (in HFpEF), inhibition of cardiac late sodium channel current and Na+/H+ exchanger activity, metabolic shifts, and effects on calcium cycling. Preliminary data from previously published studies suggest that SGLT2-iss could be useful for the treatment of HFpEF and HFmEF. Several large ongoing trials, including DELIVER AND EMPEROR -preserved have been designed to evalute the efficacy of SGLT2-iss in improving clinical outcomes in patients diagnosed with HFpEF. The goal of this manuscript is to review the use of SGLT2-iss inhibitors for HFpEF or HFmEF associated with diabetes.


Asunto(s)
Diabetes Mellitus , Cardiomiopatías Diabéticas , Insuficiencia Cardíaca , Inhibidores del Cotransportador de Sodio-Glucosa 2 , Humanos , Volumen Sistólico/fisiología , Función Ventricular Izquierda , Inhibidores del Cotransportador de Sodio-Glucosa 2/farmacología , Inhibidores del Cotransportador de Sodio-Glucosa 2/uso terapéutico , Transportador 2 de Sodio-Glucosa/metabolismo , Cardiomiopatías Diabéticas/tratamiento farmacológico , Diabetes Mellitus/tratamiento farmacológico
4.
Cost Eff Resour Alloc ; 21(1): 30, 2023 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-37189126

RESUMEN

BACKGROUND: The FLURESP project is a public health research funded by the European Commission, with the objective to design a methodological framework to assess the cost-effectiveness of existing public health measures against human influenza pandemics. A dataset has been specifically collected in the frame of the Italian health system. As most of interventions against human influenza are relavant against other respiratory diseases pandemics, potential interests in COVID-19 are discussed. METHODS: Ten public health measures against human influenza pandemics pandemic were selected to be also relevant to other respiratory virus pandemics such as COVID 19: individual (hand washing, using masks), border control (quarantine, fever screening, border closure), community infection (school closure, class dismissal, social distancing, limitation of public transport), reduction of secondary infections (implementation of antibiotic therapy guidelines), pneumococcal vaccination for at-risk people, development of Intensive Care Unit (ICU) capacity, implementation of life support equipments in ICU, screening interventions, vaccination programs targeting health professional and targeting general population. RESULTS: Using mortality reduction as effectiveness criteria, the most cost-effective strategies are "reduction of secondary infections" and "implementation of life support equipment in ICU". The least cost-effective option whatever the level of pandemic events are screening interventions and mass vaccination. CONCLUSIONS: A number of intervention strategies against human influenza pandemics appears relevant against every respiratory virus, including the COVID-19 event. Measures against pandemics should be considered according to their expected effectiveness but also their costs for the society because they impose substantial burden to the population, confirming the interest of considering cost-effectiveness of public health measures to enlighten decision making.

5.
Clin Genet ; 102(2): 117-122, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35470444

RESUMEN

BRD4 is part of a multiprotein complex involved in loading the cohesin complex onto DNA, a fundamental process required for cohesin-mediated loop extrusion and formation of Topologically Associating Domains. Pathogenic variations in this complex have been associated with a growing number of syndromes, collectively known as cohesinopathies, the most classic being Cornelia de Lange syndrome. However, no cohort study has been conducted to delineate the clinical and molecular spectrum of BRD4-related disorder. We formed an international collaborative study, and collected 14 new patients, including two fetuses. We performed phenotype and genotype analysis, integrated prenatal findings from fetopathological examinations, phenotypes of pediatric patients and adults. We report the first cohort of patients with BRD4-related disorder and delineate the dysmorphic features at different ages. This work extends the phenotypic spectrum of cohesinopathies and characterize a new clinically relevant and recognizable pattern, distinguishable from the other cohesinopathies.


Asunto(s)
Síndrome de Cornelia de Lange , Proteínas Nucleares , Proteínas de Ciclo Celular/genética , Niño , Síndrome de Cornelia de Lange/diagnóstico , Síndrome de Cornelia de Lange/genética , Síndrome de Cornelia de Lange/patología , Femenino , Genómica , Humanos , Mutación , Proteínas Nucleares/genética , Fenotipo , Embarazo , Factores de Transcripción/genética
6.
Pediatr Allergy Immunol ; 33 Suppl 27: 83-85, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-35080298

RESUMEN

Some live vaccines, particularly Bacillus Calmette-Guérin (BCG), oral polio vaccine (OPV), and measles vaccine, can reduce the incidence of all-cause mortality by outreaching the mere control of specific infections and exerting off-target effects. Asides from the prevention of viral infection, some other vaccines, such as those against flu or rotavirus, could reduce the risk of developing autoimmunity. The nonspecific effects of vaccines are mediated by the innate immune system, mainly through the so-called trained innate immunity. These observations paved the way for developing tolerogenic and trained immunity-based vaccines with substantial implications for more effective use of vaccines and combat vaccine hesitancy.


Asunto(s)
Vacuna BCG , Virosis , Humanos , Inmunidad Innata , Vacuna Antisarampión
7.
BMC Public Health ; 22(1): 19, 2022 01 06.
Artículo en Inglés | MEDLINE | ID: mdl-34991544

RESUMEN

BACKGROUND: Despite thousands of influenza cases annually recorded by surveillance systems around the globe, estimating the transmission patterns of seasonal influenza is challenging. METHODS: We develop an age-structured mathematical model to influenza transmission to analyze ten consecutive seasons (from 2010 to 2011 to 2019-2020) of influenza epidemiological and virological data reported to the Italian surveillance system. RESULTS: We estimate that 18.4-29.3% of influenza infections are detected by the surveillance system. Influenza infection attack rate varied between 12.7 and 30.5% and is generally larger for seasons characterized by the circulation of A/H3N2 and/or B types/subtypes. Individuals aged 14 years or less are the most affected age-segment of the population, with A viruses especially affecting children aged 0-4 years. For all influenza types/subtypes, the mean effective reproduction number is estimated to be generally in the range 1.09-1.33 (9 out of 10 seasons) and never exceeding 1.41. The age-specific susceptibility to infection appears to be a type/subtype-specific feature. CONCLUSIONS: The results presented in this study provide insights on type/subtype-specific transmission patterns of seasonal influenza that could be instrumental to fine-tune immunization strategies and non-pharmaceutical interventions aimed at limiting seasonal influenza spread and burden.


Asunto(s)
Gripe Humana , Niño , Humanos , Subtipo H3N2 del Virus de la Influenza A , Gripe Humana/prevención & control , Italia/epidemiología , Estaciones del Año , Vacunación
8.
J Cardiothorac Vasc Anesth ; 36(3): 699-706, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-33994318

RESUMEN

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.


Asunto(s)
Lesión Renal Aguda , Lesión Renal Aguda/diagnóstico , Lesión Renal Aguda/epidemiología , Lesión Renal Aguda/etiología , Niño , Preescolar , Creatinina , Cuidados Críticos , Humanos , Lactante , Recién Nacido , Unidades de Cuidados Intensivos , Estudios Retrospectivos , Factores de Riesgo
9.
Clin Genet ; 99(3): 462-474, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33368194

RESUMEN

IQSEC2 mutations are associated with IQSEC2-related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by the increasing number of reported cases although the genotype-phenotype relationship for IQSEC2 remains overall complex. As for IQSEC2-related ID a wide phenotypic diversity has been described in Rett syndrome (RTT). Several patients harboring IQSEC2 mutations present with clinical symptoms similar to RTT and some cases meet most of the criteria for classic RTT. With the aim of establishing a genotype-phenotype correlation, we collected data of 16 patients harboring IQSEC2 point mutations (15 of them previously unreported) and of five novel patients carrying CNVs encompassing IQSEC2. Most of our patients surprisingly shared a moderate-to-mild phenotype. The similarities in the clinical course between our mild cases and patients with milder forms of atypical RTT reinforce the hypothesis that also IQSEC2 mutated patients may lay under the wide clinical spectrum of RTT and thus IQSEC2 should be considered in the differential diagnosis. Our data confirm that position, type of variant and gender are crucial for IQSEC2-associated phenotype delineation.


Asunto(s)
Factores de Intercambio de Guanina Nucleótido/genética , Discapacidad Intelectual/genética , Síndrome de Rett/genética , Adolescente , Adulto , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Estudios de Asociación Genética , Humanos , Masculino , Persona de Mediana Edad , Mutación Puntual , Síndrome de Rett/diagnóstico , Secuenciación del Exoma , Adulto Joven
10.
BMC Med Ethics ; 22(1): 18, 2021 02 27.
Artículo en Inglés | MEDLINE | ID: mdl-33639926

RESUMEN

BACKGROUND: Providing understandable information to patients is necessary to achieve the aims of the Informed Consent process: respecting and promoting patients' autonomy and protecting patients from harm. In recent decades, new, primarily digital technologies have been used to apply and test innovative formats of Informed Consent. We conducted a systematic review to explore the impact of using digital tools for Informed Consent in both clinical research and in clinical practice. Understanding, satisfaction and participation were compared for digital tools versus the non-digital Informed Consent process. METHODS: We searched for studies on available electronic databases, including Pubmed, EMBASE, and Cochrane. Studies were identified using specific Mesh-terms/keywords. We included studies, published from January 2012 to October 2020, that focused on the use of digital Informed Consent tools for clinical research, or clinical procedures. Digital interventions were defined as interventions that used multimedia or audio-video to provide information to patients. We classified the interventions into 3 different categories: video only, non-interactive multimedia, and interactive multimedia. RESULTS: Our search yielded 19,579 publications. After title and abstract screening 100 studies were retained for full-text analysis, of which 73 publications were included. Studies examined interactive multimedia (29/73), non-interactive multimedia (13/73), and videos (31/73), and most (34/38) studies were conducted on adults. Innovations in consent were tested for clinical/surgical procedures (26/38) and clinical research (12/38). For research IC, 21 outcomes were explored, with a positive effect on at least one of the studied outcomes being observed in 8/12 studies. For clinical/surgical procedures 49 outcomes were explored, and 21/26 studies reported a positive effect on at least one of the studied outcomes. CONCLUSIONS: Digital technologies for informed consent were not found to negatively affect any of the outcomes, and overall, multimedia tools seem desirable. Multimedia tools indicated a higher impact than videos only. Presence of a researcher may potentially enhance efficacy of different outcomes in research IC processes. Studies were heterogeneous in design, making evaluation of impact challenging. Robust study design including standardization is needed to conclusively assess impact.


Asunto(s)
Consentimiento Informado , Multimedia , Adulto , Humanos , Proyectos de Investigación
11.
J Med Internet Res ; 23(8): e29556, 2021 08 13.
Artículo en Inglés | MEDLINE | ID: mdl-34292866

RESUMEN

BACKGROUND: Italy has experienced severe consequences (ie, hospitalizations and deaths) during the COVID-19 pandemic. Online decision support systems (DSS) and self-triage applications have been used in several settings to supplement health authority recommendations to prevent and manage COVID-19. A digital Italian health tech startup, Paginemediche, developed a noncommercial, online DSS with a chat user interface to assist individuals in Italy manage their potential exposure to COVID-19 and interpret their symptoms since early in the pandemic. OBJECTIVE: This study aimed to compare the trend in online DSS sessions with that of COVID-19 cases reported by the national health surveillance system in Italy, from February 2020 to March 2021. METHODS: We compared the number of sessions by users with a COVID-19-positive contact and users with COVID-19-compatible symptoms with the number of cases reported by the national surveillance system. To calculate the distance between the time series, we used the dynamic time warping algorithm. We applied Symbolic Aggregate approXimation (SAX) encoding to the time series in 1-week periods. We calculated the Hamming distance between the SAX strings. We shifted time series of online DSS sessions 1 week ahead. We measured the improvement in Hamming distance to verify the hypothesis that online DSS sessions anticipate the trends in cases reported to the official surveillance system. RESULTS: We analyzed 75,557 sessions in the online DSS; 65,207 were sessions by symptomatic users, while 19,062 were by contacts of individuals with COVID-19. The highest number of online DSS sessions was recorded early in the pandemic. Second and third peaks were observed in October 2020 and March 2021, respectively, preceding the surge in notified COVID-19 cases by approximately 1 week. The distance between sessions by users with COVID-19 contacts and reported cases calculated by dynamic time warping was 61.23; the distance between sessions by symptomatic users was 93.72. The time series of users with a COVID-19 contact was more consistent with the trend in confirmed cases. With the 1-week shift, the Hamming distance between the time series of sessions by users with a COVID-19 contact and reported cases improved from 0.49 to 0.46. We repeated the analysis, restricting the time window to between July 2020 and December 2020. The corresponding Hamming distance was 0.16 before and improved to 0.08 after the time shift. CONCLUSIONS: Temporal trends in the number of online COVID-19 DSS sessions may precede the trend in reported COVID-19 cases through traditional surveillance. The trends in sessions by users with a contact with COVID-19 may better predict reported cases of COVID-19 than sessions by symptomatic users. Data from online DSS may represent a useful supplement to traditional surveillance and support the identification of early warning signals in the COVID-19 pandemic.


Asunto(s)
COVID-19 , Pandemias , Humanos , Italia/epidemiología , Pandemias/prevención & control , SARS-CoV-2 , Triaje
12.
Pediatr Cardiol ; 42(5): 1082-1087, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33837838

RESUMEN

Warfarin is prescribed in patients with ventricular assist devices (VADs). Dosage depends on several factors including the underlying genotype. These include polymorphisms of genes encoding cytochrome P450 enzymes, the main ones being CYP2C9, VKORC1, and CYP4F2. The objectives of this study were to evaluate the prevalence of CY2CP9 1*2*3*, VKORC1, and CYP4F2 in children with VADs and the time to reach the target international normalized ratio. We performed a retrospective/prospective study in children with VADs. We recorded polymorphisms, disease, type of VAD, ethnicity, age, gender, height, weight, INR values, bleeding, and thromboembolic episodes. Informed consent was obtained. We enrolled 34 children (19 male, 15 female), with a median age of 2 years (range 0.3-17 years) and median weight of 6.9Kg. The Berlin Heart was the most commonly implanted VAD (22/34; 64%), and the most common diagnosis was dilated cardiomyopathy. Statistical analysis confirmed a significant partial correlation with VKORC1 CC (p = 0.019). The CYP2C9*2 CT genotype showed a late rise in target INR values (p = 0.06), while the CYP2C9*2 CC showed a tendency toward an early INR rise (p = 0.024). We provide new information on the contribution of the warfarin polymorphisms in children with VAD implantation. Pharmacogenomic dosing for children using warfarin has the potential to improve clinical care in VAD patients. Patients with the CYP2C9*2 CT genotype may need more time or higher doses to reach target INR, while clinicians may need to be aware of the potential for a rapid rise in INR in patients with the CYP2C9*2 CC genotype.


Asunto(s)
Anticoagulantes/administración & dosificación , Corazón Auxiliar , Warfarina/administración & dosificación , Adolescente , Anticoagulantes/metabolismo , Niño , Preescolar , Sistema Enzimático del Citocromo P-450/genética , Relación Dosis-Respuesta a Droga , Femenino , Humanos , Lactante , Relación Normalizada Internacional , Masculino , Farmacogenética , Polimorfismo Genético , Estudios Prospectivos , Estudios Retrospectivos , Vitamina K Epóxido Reductasas/genética , Warfarina/metabolismo
13.
Int J Mol Sci ; 22(24)2021 Dec 14.
Artículo en Inglés | MEDLINE | ID: mdl-34948243

RESUMEN

Intellectual disability (ID) is characterized by impairments in the cognitive processes and in the tasks of daily life. It encompasses a clinically and genetically heterogeneous group of neurodevelopmental disorders often associated with autism spectrum disorder (ASD). Social and communication abilities are strongly compromised in ASD. The prevalence of ID/ASD is 1-3%, and approximately 30% of the patients remain without a molecular diagnosis. Considering the extreme genetic locus heterogeneity, next-generation sequencing approaches have provided powerful tools for candidate gene identification. Molecular diagnosis is crucial to improve outcome, prevent complications, and hopefully start a therapeutic approach. Here, we performed parent-offspring trio whole-exome sequencing (WES) in a cohort of 60 mostly syndromic ID/ASD patients and we detected 8 pathogenic variants in genes already known to be associated with ID/ASD (SYNGAP1, SMAD6, PACS1, SHANK3, KMT2A, KCNQ2, ACTB, and POGZ). We found four de novo disruptive variants of four novel candidate ASD/ID genes: MBP, PCDHA1, PCDH15, PDPR. We additionally selected via bioinformatic tools many variants in unknown genes that alone or in combination can contribute to the phenotype. In conclusion, our data confirm the efficacy of WES in detecting pathogenic variants of known and novel ID/ASD genes.


Asunto(s)
Trastorno Autístico/genética , Secuenciación del Exoma , Sitios Genéticos , Predisposición Genética a la Enfermedad , Discapacidad Intelectual/genética , Adolescente , Trastorno Autístico/patología , Niño , Femenino , Humanos , Discapacidad Intelectual/patología , Masculino
14.
Monaldi Arch Chest Dis ; 92(2)2021 Nov 24.
Artículo en Inglés | MEDLINE | ID: mdl-34818883

RESUMEN

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.


Asunto(s)
Rehabilitación Cardiaca , Desnutrición , Anciano , Femenino , Evaluación Geriátrica , Hospitalización , Hospitales , Humanos , Desnutrición/complicaciones , Desnutrición/epidemiología , Evaluación Nutricional , Estudios Prospectivos
15.
Pediatr Allergy Immunol ; 31 Suppl 26: 69-71, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-33236432

RESUMEN

Flu virus infection is a common cause of acute respiratory illness, with the major incidence in pediatric age, high morbidity, and mortality. The flu vaccine is recommended for all people aged ≥6 months, unless specific contraindications are present. Younger and older age, pregnancy, chronic diseases like asthma, and immunodeficiency are risk factors for severe complications following flu infection. Thus, these categories represent the target for flu vaccine strategies in most countries. Inactivated influenza vaccine (IIV), recombinant influenza vaccine (RIV) or live-attenuated influenza virus (LAIV) are currently available, with specific precautions and contraindications. We aim to resume the current indications for vaccines in the vulnerable populations to support flu vaccination inclusiveness, in anticipation of a "universal vaccine" strategy.


Asunto(s)
Asma , Vacunas contra la Influenza , Gripe Humana , Anciano , Niño , Femenino , Humanos , Gripe Humana/prevención & control , Embarazo , Vacunación , Vacunas Atenuadas , Vacunas de Productos Inactivados
16.
Neurol Sci ; 41(11): 3345-3348, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32440981

RESUMEN

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.


Asunto(s)
Subunidades gamma de la Proteína de Unión al GTP , Lipodistrofia Generalizada Congénita , Epilepsias Mioclónicas Progresivas , Tejido Adiposo , Adolescente , Niño , Subunidades gamma de la Proteína de Unión al GTP/genética , Humanos , Lipodistrofia Generalizada Congénita/complicaciones , Lipodistrofia Generalizada Congénita/diagnóstico , Lipodistrofia Generalizada Congénita/genética , Epilepsias Mioclónicas Progresivas/genética , Fenotipo
17.
Eur J Public Health ; 30(3): 510-515, 2020 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-32073598

RESUMEN

BACKGROUND: Social media monitoring during TV broadcasts dedicated to vaccines can provide information on vaccine confidence. We analyzed the sentiment of tweets published in reaction to two TV broadcasts in Italy dedicated to vaccines, one based on scientific evidence [Presadiretta (PD)] and one including anti-vaccine personalities [Virus (VS)]. METHODS: Tweets about vaccines published in an 8-day period centred on each of the two TV broadcasts were classified by sentiment. Differences in tweets' and users' characteristics between the two broadcasts were tested through Poisson, quasi-Poisson or logistic univariate regression. We investigated the association between users' characteristics and sentiment through univariate quasi-binomial logistic regression. RESULTS: We downloaded 12 180 tweets pertinent to vaccines, published by 5447 users; 276 users tweeted during both broadcasts. Sentiment was positive in 50.4% of tweets, negative in 37.7% and neutral in 10.1% (remaining tweets were unclear or questions). The positive/negative ratio was higher for VS compared to PD (6.96 vs. 4.24, P<0.001). Positive sentiment was associated to the user's number of followers (OR 1.68, P<0.001), friends (OR 1.83, P<0.001) and published tweets (OR 1.46, P<0.001) and to being a recurrent user (OR 3.26, P<0.001). CONCLUSIONS: Twitter users were highly reactive to TV broadcasts dedicated to vaccines. Sentiment was mainly positive, especially among very active users. Displaying anti-vaccine positions on TV elicited a positive sentiment on Twitter. Listening to social media during TV shows dedicated to vaccines can provide a diverse set of data that can be exploited by public health institutions to inform tailored vaccine communication initiatives.


Asunto(s)
Medios de Comunicación Sociales , Vacunas , Amigos , Humanos , Italia , Salud Pública
18.
Eur J Public Health ; 30(1): 43-49, 2020 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-31056657

RESUMEN

BACKGROUND: The FLURESP project is a public health project funded by the European Commission with the objective to design a methodological approach in order to compare the cost-effectiveness of existing public health measures against human influenza pandemics in four target countries: France, Italy, Poland and Romania. This article presents the results relevant to the French health system using a data set specifically collected for this purpose. METHODS: Eighteen public health interventions against human influenza pandemics were selected. Additionally, two public-health criteria were considered: 'achieving mortality reduction ≥40%' and 'achieving morbidity reduction ≥30%'. Costs and effectiveness data sources include existing reports, publications and expert opinions. Cost distributions were taken into account using a uniform distribution, according to the French health system. RESULTS: Using reduction of mortality as an effectiveness criterion, the most cost-effective options was 'implementation of new equipment of Extracorporeal membrane oxygenation (ECMO) equipment'. Targeting vaccination to health professionals appeared more cost-effective than vaccination programs targeting at risk populations. Concerning antiviral distribution programs, curative programs appeared more cost-effective than preventive programs. Using reduction of morbidity as effectiveness criterion, the most cost-effective option was 'implementation of new equipment ECMO'. Vaccination programs targeting the general population appeared more cost-effective than both vaccination programs of health professionals or at-risk populations. Curative antiviral programs appeared more cost-effective than preventive distribution programs, whatever the pandemic scenario. CONCLUSION: Intervention strategies against human influenza pandemics impose a substantial economic burden, suggesting a need to develop public-health cost-effectiveness assessments across countries.


Asunto(s)
Vacunas contra la Influenza , Gripe Humana , Análisis Costo-Beneficio , Francia/epidemiología , Humanos , Gripe Humana/epidemiología , Gripe Humana/prevención & control , Italia , Pandemias/prevención & control , Polonia , Salud Pública , Rumanía
20.
BMC Infect Dis ; 19(1): 990, 2019 Nov 21.
Artículo en Inglés | MEDLINE | ID: mdl-31752738

RESUMEN

BACKGROUND: Since 1985, two antigenically distinct lineages of influenza B viruses (Victoria-like and Yamagata-like) have circulated globally. Trivalent seasonal influenza vaccines contain two circulating influenza A strains but a single B strain and thus provide limited immunity against circulating B strains of the lineage not included in the vaccine. In this study, we describe the characteristics of influenza B viruses that caused respiratory illness in the population in Italy over 13 consecutive seasons of virological surveillance, and the match between the predominant influenza B lineage and the vaccine B lineage, in each season. METHODS: From 2004 to 2017, 26,886 laboratory-confirmed influenza cases were registered in Italy, of which 18.7% were type B. Among them, the lineage of 2465 strains (49%) was retrieved or characterized in this study by a real-time RT-PCR assay and/or sequencing of the hemagglutinin (HA) gene. RESULTS: Co-circulation of both B lineages was observed each season, although in different proportions every year. Overall, viruses of B/Victoria and B/Yamagata lineages caused 53.3 and 46.7% of influenza B infections, respectively. A higher proportion of infections with both lineages was detected in children, and there was a declining frequency of B/Victoria detections with age. A mismatch between the vaccine and the predominant influenza B lineage occurred in eight out of thirteen influenza seasons under study. Considering the seasons when B accounted for > 20% of all laboratory-confirmed influenza cases, a mismatch was observed in four out of six seasons. Phylogenetic analysis of the HA1 domain confirmed the co-circulation of both lineages and revealed a mixed circulation of distinct evolutionary viral variants, with different levels of match to the vaccine strains. CONCLUSIONS: This study contributes to the understanding of the circulation of influenza B viruses in Italy. We found a continuous co-circulation of both B lineages in the period 2004-2017, and determined that children were particularly vulnerable to Victoria-lineage influenza B virus infections. An influenza B lineage mismatch with the trivalent vaccine occurred in about two-thirds of cases.


Asunto(s)
Virus de la Influenza B/aislamiento & purificación , Gripe Humana/virología , Monitoreo Epidemiológico , Humanos , Virus de la Influenza B/clasificación , Virus de la Influenza B/genética , Vacunas contra la Influenza/administración & dosificación , Vacunas contra la Influenza/inmunología , Gripe Humana/epidemiología , Gripe Humana/prevención & control , Italia/epidemiología , Filogenia , Estudios Retrospectivos , Estaciones del Año
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