Project description:Colorectal cancer (CRC) is the third most common type of cancer with resulting major mortality. In a bid to reduce the mortality, bowel cancer screening has been established in the United Kingdom. The screening programme was commenced in Northern Ireland in 2010 within the Northern Health and Social Care Trust, following its implementation in England and Scotland. This study aimed to look at early outcome data for bowel cancer screening in Northern Ireland and compare data with other regions in the UK.A retrospective analysis was conducted of patients who tested faecal occult blood (FOB) positive and attended for pre-assessment between May 2010 and May 2011. Data was also collected from the computerised endoscopy database (Endoscribe®). Patient demographics, colonoscopic depth of insertion, findings and complications were documented. Subsequent surgical management, pathological staging and final outcome were also noted.182 patients attended for pre-assessment in the time frame and 178 patients proceeded to colonoscopy. The commonest pathology encountered was polyps, identified in 95 (52.7%) patients. Macroscopically 13 cancers were seen on endoscopy and a further two were found on post-operative histology of polyps that were not amenable to endoscopic resection. In addition, 5 malignant polyps were found on histological analysis of the excised polyps. The staging of cancers was favourable with 35% being Dukes' A stage.Outcomes from the first year of colorectal cancer screening in the Northern Trust are in keeping with early results from previous studies in terms of cancer detection rates per colonoscopy and proportion of early stage cancers. However, the adenoma detection rate was higher than anticipated.
Project description:Castiglione D'Adda is one of the municipalities more precociously and severely affected by the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) epidemic in Lombardy. With our study we aimed to understand the diffusion of the infection by mass serological screening. We searched for SARS-CoV-2 IgGs in the entire population on a voluntary basis using lateral flow immunochromatographic tests (RICT) on capillary blood (rapid tests). We then performed chemioluminescent serological assays (CLIA) and naso-pharyngeal swabs (NPS) in a randomized representative sample and in each subject with a positive rapid test. Factors associated with RICT IgG positivity were assessed by uni- and multivariate logistic regression models. Out of the 4143 participants, 918 (22·2%) showed RICT IgG positivity. In multivariable analysis, IgG positivity increases with age, with a significant non-linear effect (p = 0·0404). We found 22 positive NPSs out of the 1330 performed. Albeit relevant, the IgG prevalence is lower than expected and suggests that a large part of the population remains susceptible to the infection. The observed differences in prevalence might reflect a different infection susceptibility by age group. A limited persistence of active infections could be found after several weeks after the epidemic peak in the area.
Project description:In this study, we describe the results of virological investigations carried out on cases of gastroenteritis reported in different communities within a 2-year pilot surveillance programme (January 2012 to December 2013) in the autonomous province of Bolzano (Northern Italy). Among the 162 norovirus (NoV)-positive cases out of 702 cases investigated, 76 were grouped in nine suspected outbreaks, 37 were hospital-acquired and 49 were community-acquired sporadic cases. NoV infections were found in all age groups in outbreak and community-acquired cases, while the highest peak of hospital-acquired infections occurred in the elderly. Sequence analyses helped to identify suspected outbreaks both in the community and in hospital wards. Although GII.4 is the predominant genotype, sequence data confirmed that at least seven genotypes circulate causing sporadic cases. Findings in this study confirmed the relevance of NoV infections as a cause of outbreaks, and impact of NoV infections in community-acquired sporadic cases in adults that are rarely described because of a lack of reporting.
Project description:Italy was the first European country affected by the Sars-Cov-2 pandemic, with the first autochthonous case identified on Feb 21st. Specific control measures restricting social contacts were introduced by the Italian government starting from the beginning of March. In the current study we analyzed public data from the four most affected Italian regions. We (i) estimated the time-varying reproduction number (R t ), the average number of secondary cases that each infected individual would infect at time t, to monitor the positive impact of restriction measures; (ii) applied the generalized logistic and the modified Richards models to describe the epidemic pattern and obtain short-term forecasts. We observed a monotonic decrease of R t over time in all regions, and the peak of incident cases ~2 weeks after the implementation of the first strict containment measures. Our results show that phenomenological approaches may be useful to monitor the epidemic growth in its initial phases and suggest that costly and disruptive public health controls might have had a positive impact in limiting the Sars-Cov-2 spread in Northern Italy.
Project description:Introduction: Biotinidase deficiency (BD) is an autosomal recessive disease causing a defect in the biotin-releasing enzyme. Newborn screening (NBS) allows early diagnosis and treatment, ensuring excellent prognosis. The aim of this study was to describe our experience in the diagnosis, treatment, and follow-up showing key strategies and unsolved questions of the management of BD patients. Methods: We analyzed data of patients identified by the Regional Centre for Newborn Screening of Verona and followed by the Inherited Metabolic Disease Unit of Verona and Neonatal Intensive Care Unit of Bolzano, Italy, from 2014 to 2020. Results: Thirty-seven patients were diagnosed by NBS (five profound and 32 partial BD), with a total incidence of 1:5,996. All were started on biotin at diagnosis and presented no symptoms at follow-up. Analysis of parents and siblings led to identification of five asymptomatic patients with partial BD: one asymptomatic parent and four young siblings. Genetic analysis of the BTD gene identified 17 different genotypes and one mutation not previously known. Discussion: Our data confirm that NBS introduction had a dramatic impact on BD diagnosis, and the incidence has increased significantly compared to other areas. Partial defects are more common than profound and have a distinctive genotype. Partial BD treatment is still controversial even at what dose of biotin and for how long. At the end, BD treatment is very easy and inexpensive and prevents severe neurological damage. Sharing experiences is essential to achieving guidelines for treatment and follow-up and a better genotype-phenotype correlation.
Project description:BACKGROUND:The Covid-19 pandemic led to a complete renewal of clinical activities of Italian hospitals. During the lockdown, all hospitals in Italy had to suspend non-urgent clinical activities. The prolonged suspension of elective activities could have caused a series of problems. METHODS:A new ad hoc protocol was designed. Single-day fast-imaging protocol with regadenoson-stress 99mTc-tetrofosmin imaging was preferred. Patients were contacted by phone 4 days before the test and answered to a questionnaire which will be repeated on the day of the exam. Body temperature <37.5 degrees C and no Covid-19 symptoms were necessary to enter the unit. Patients wore surgical mask and gloves. Social distancing was maintained throughout the examination. Healthcare professionals wore a personal protective equipment. RESULTS:A total of 46 patients were studied from April 7 to May 15, 2020, before the publication of the recommendations from ASNC and SNMMI. None of the patients experienced complications. Follow-up of patients discharged was carried by phone. No Covid-19 infection symptoms were reported. On May 18, 2020 all the healthcare providers of nuclear cardiology department underwent serological testing IgG and IgM and none were positive. CONCLUSION:Strict ad hoc hygiene protocol for Covid-19 pandemic avoids diagnostic-therapeutic delay and lengthening of waiting lists. Our experience confirms that pursuing WHO recommendations and recent indication of ASNC and SNMMI is safe for both health providers and patients. Moreover, the incidence of significant inducible ischemia rises when correct stratification of patients is performed.
Project description:BackgroundCOVID-19 patients have an increased susceptibility to develop thrombotic complications, thus thromboprophylaxis is warranted which may increase risk of upper gastrointestinal bleeding (UGIB). Our aim was to evaluate incidence of UGIB and use of upper GI endoscopy in COVID-19 inpatients.MethodsThe medical and endoscopic management of UGIB in non-ICU COVID-19 patients has been retrospectively evaluated. Glasgow Blatchford score was calculated at onset of signs of GI bleeding. Timing between onset of signs of GI bleeding and execution, if performed, of upper GI endoscopy was evaluated. Endoscopic characteristics and outcome of patients were evaluated overall or according to the execution or not of an upper GI endoscopy before and after 24h.ResultsOut of 4871 COVID-19 positive patients, 23 presented signs of UGIB and were included in the study (incidence 0.47%). The majority (78%) were on anticoagulant therapy or thromboprophylaxis. In 11 patients (48%) upper GI endoscopy was performed within 24h, whereas it was not performed in 5. Peptic ulcer was the most common finding (8/18). Mortality rate was 21.7% for worsening of COVID-19 infection. Mortality and rebleeding were not different between patients having upper GI endoscopy before or after 24h/not performed. Glasgow Blatchford score was similar between the two groups (13;12-16 vs 12;9-15).ConclusionUpper GI bleeding complicated hospital stay in almost 0.5% of COVID-19 patients and peptic ulcer disease is the most common finding. Conservative management could be an option in patients that are at high risk of respiratory complications.
Project description:Fabry disease (FD) is a progressive multisystemic lysosomal storage disease. Early diagnosis by newborn screening (NBS) may allow for timely treatment, thus preventing future irreversible organ damage. We present the results of 5.5 years of NBS for FD by α-galactosidase A activity and globotriaosylsphingosine (lyso-Gb3) assays in dried blood spot through a multiplexed MS/MS assay. Furthermore, we report our experience with long-term follow-up of positive subjects. We screened more than 170,000 newborns and 22 males were confirmed to have a GLA gene variant, with an incidence of 1:7879 newborns. All patients were diagnosed with a variant previously associated with the later-onset phenotype of FD or carried an unclassified variant (four patients) or the likely benign p.Ala143Thr variant. All were asymptomatic at the last visit. Although lyso-Gb3 is not considered a reliable second tier test for newborn screening, it can simplify the screening algorithm when its levels are elevated at birth. After birth, plasma lyso-Gb3 is a useful marker for non-invasive monitoring of all positive patients. Our study is the largest reported to date in Europe, and presents data from long-term NBS for FD that reveals the current incidence of FD in northeastern Italy. Our follow-up data describe the early disease course and the trend of plasma lyso-Gb3 during early childhood.
Project description:AimTo evaluate the cost-consequences of the investment for anti-hepatitis C virus (HCV) treatment by the Italian National Health System (NHS) for patients who will be newly diagnosed through active HCV screening, implemented in Italy from 2020.MethodsA previously published Markov model was used to estimate the disease complications avoided and the associated savings over 20 years to treat a standardised population of 10,000 HCV-infected patients diagnosed as a result of screening. Disease progression probabilities and fibrosis stage distribution were based on previously reported data in the literature. Real-life treatment effectiveness and medical expenses for disease management were estimated starting from a representative cohort of HCV-treated patients in Italy (Italian Platform for the Study of Viral Hepatitis Therapies). The breakeven point in time (BPT) was defined as the years required for the initial investment in treatment to be recovered in terms of cumulative costs saved.ResultsOver a 20-year time horizon, the treatment of 10,000 standardized patients diagnosed through active HCV screening results in 7769 avoided events of progression, which are associated with €838.73 million net savings accrued by the Italian NHS. The initial investment in treatment is recouped in 4.3 years in the form of savings from disease complications avoided.ConclusionInvestment in treatment of newly diagnosed patients will bring a significant reduction in disease complications, which is associated with great economic benefits. This type of action can reduce the infection rate as well as the clinical and economic disease burden of HCV in Italy.
Project description:Following the outbreak of Severe Acute Respiratory Syndrome CoronaVirus 2 (SARS-CoV-2) last December 2019 in China, Italy was the first European country to be severely affected, with the first local case diagnosed on 20 February 2020. The virus spread quickly, particularly in the North of Italy, with three regions (Lombardy, Veneto and Emilia-Romagna) being the most severely affected. These three regions accounted for >80% of SARS-CoV-2 positive cases when the tight lockdown was established (March 8). These regions include one of Europe's areas of heaviest air pollution, the Po valley. Air pollution has been recently proposed as a possible risk factor of SARS-CoV-2 infection, due to its adverse effect on immunity and to the possibility that polluted air may even carry the virus. We investigated the association between air pollution and subsequent spread of the SARS-CoV-2 infection within these regions. We collected NO2 tropospheric levels using satellite data available at the European Space Agency before the lockdown. Using a multivariable restricted cubic spline regression model, we compared NO2 levels with SARS-CoV-2 infection prevalence rate at different time points after the lockdown, namely March 8, 22 and April 5, in the 28 provinces of Lombardy, Veneto and Emilia-Romagna. We found little association of NO2 levels with SARS-CoV-2 prevalence up to about 130 μmol/m2, while a positive association was evident at higher levels at each time point. Notwithstanding the limitations of the use of aggregated data, these findings lend some support to the hypothesis that high levels of air pollution may favor the spread of the SARS-CoV-2 infection.