Molecular epidemiology tools in the management of healthcare-associated infections: towards the definition of recommendations.

INTRODUCTION: Healthcare-Associated Infections (HAIs) are an important cause of morbidity and mortality worldwide and have a significant economic impact for health systems. Molecular epidemiology tools have a central role in HAI prevention programs. In order to give an overview of their specific advantages and disadvantages we reported current and new molecular typing methods for HAI outbreak detection and epidemiological surveillance. METHODS: The current review was drafted as a short version of a longer document written by the Public Health Genomics (GSP) working group, and the Italian Study Group of Hospital Hygiene (GISIO), entitled Molecular epidemiology of Healthcare Associated Infections: recommendations from the Italian Society of Hygiene, Preventive Medicine and Public Health (SItI). This text considers various aspects related to HAIs: the role of genotyping and bioinformatics, the organizational levels of laboratories, as well as ethical and economic aspects. CONCLUSIONS: The use of molecular epidemiology represents a key tool in the management of HAIs, to be used as a complement to conventional control measures. The present contribution aims to increase knowledge on the proper use of such methods, given the major challenge HAI represents for National Health systems.

[Molecular epidemiology in healthcare-associated infections: guidelines of the Italian Society of Hygiene, Preventive Medicine and Public Health (SItI)]. / L'epidemiologia molecolare nelle Infezioni Correlate all'Assistenza: documento di indirizzo della Società Italiana di Igiene, Medicina Preventiva e Sanità Pubblica (SItI).

Healthcare-associated infections (HAI) are the most frequent and severe complication acquired in healthcare settings and have a significant impact in terms of morbidity, mortality and costs. This document is aimed at different health professionals and focuses on the role of molecular epidemiology in the prevention and management of these infections. It describes the role of molecular characterization and of bioinformatics archives, the organizational levels of laboratories, the evidence regarding cost-effectiveness, ethical aspects related to HAI, and highlights some specific peculiarities of Italy. Molecular epidemiology is an indispensable tool and should be part of a multidisciplinary approach in the proper management of HAI.

[Implementation of Italian guidelines on public health genomics in Italy: a challenging policy of the NHS]. / Le policy di genomica in sanità pubblica in Italia: le sfide nella implementazione delle linee guida nel sistema sanitario nazionale.

BACKGROUND: Genomics and related fields are becoming increasingly relevant in health care practice. Italy is the first European country that has a structured policy of Public Health Genomics. Nevertheless, what should be the role of genomics in a public health perspective and how public health professionals should engage with advances in genomics' knowledge and technology, is still not entirely clear. METHODS: A description of the regulatory framework made-up by the Italian government in the last years is provided. In order to implement the national guidelines on Public Health Genomics published in 2013, key issues including the ethical, legal and social aspects within an evidence-based framework should be warranted and are herewith discussed. CONCLUSIONS: Genomics and predictive medicine are considered one of the main intervention areas by the National Prevention Plan 2010-2012, and dedicated guidelines were published in 2013. In order to implement such guidelines, we envisage a coordinated effort between stakeholders to guide development in genomic medicine, towards an impact on population health. There is also room to implement knowledge on how genomics can be integrated into health systems in an appropriate and sustainable way. Learning programs are needed to spread knowledge and awareness of genomics technology, in particular on genomic testing for complex diseases.

Arrhythmias in primary hyperparathyroidism evaluated by exercise test.

BACKGROUND: Hypercalcemia induces arrhythmias and shortening of QT. The aim of this study was to investigate risk factors for occurrence of arrhythmias in patients with primary hyperparathyroidism (PHPT) during bicycle ergometer exercise test (ET). METHODS: Thirty PHPT postmenopausal women (mean age, 60·9 ± 8·0 years) and 30, sex and age-matched, controls underwent ET, echocardiogram and mineral metabolism biochemical evaluation. The following stages were considered during ET: rest, peak exercise, recovery (early recovery, 2 and 10 min after peak exercise). QT was corrected with Bazett's formula (QTc). RESULTS: Compared with controls, PHPT patients showed an increased occurrence of ventricular premature beats (VPBs) during ET (26·6% vs. 6·6%, P = 0·03). Being affected by PHPT predicted the onset of VPBs at peak exercise (P = 0·04) and recovery (P = 0·03), as shown by logistic regression analysis. In PHPT patients, serum calcium level was a predictor of VPBs at peak exercise (P = 0·05). QTc in patients with PHPT was in the normal range. Serum calcium level showed a negative correlation with QTc (P = 0·01) in whole sample. Compared with controls, PHTP patients had QTc significantly shorter for every stage of ET, except at peak exercise. Physiological reduction of QTc interval from rest to peak exercise was not seen in patients with PHPT, QTc at rest being the only predictor of QTc in every stage, as shown by multivariate regression analysis. CONCLUSIONS: In patients with PHPT, an increased occurrence of VPBs and a different QTc adaptation during ET were observed and may represent risk factors for major arrhythmias.

Biological determinants of physical activity across the life course: a "Determinants of Diet and Physical Activity" (DEDIPAC) umbrella systematic literature review.

BACKGROUND: Despite the large number of studies and reviews available, the evidence regarding the biological determinants of physical activity (PA) is inconclusive. In this umbrella review, we summarized the current evidence on the biological determinants of PA across the life course, by pooling the results of the available systematic literature reviews (SLRs) and meta-analyses (MAs). METHODS: We conducted an online search on MEDLINE, ISI Web of Science, Scopus, and SPORTDiscus databases up to January 2018. SLRs and MAs of observational studies that investigated the association between biological determinants of PA and having PA as outcome were considered eligible. The extracted data were assessed based on the importance of the determinants, the strength of evidence, and the methodological quality. RESULTS: We identified 19 reviews of which most were of moderate methodological quality. Determinants that were studied most frequently among all ages and demonstrated evidence suggesting a positive association to PA were younger age, being male, higher health status, and higher physical fitness levels. Among adults, normal birth weight was found to be positively associated to PA with convincing strength of evidence, while findings among adolescents were inconsistent and with limited strength of evidence. CONCLUSIONS: Different social or behavioral factors may contribute to the decrease of PA with age and among females versus males, and creating programmes targeted at diverse ages, female population, and adults with abnormal birth weight is recommended. Future studies should use prospective study designs, standardized definitions of PA, and objective measurement methods of PA assessment.

Socio-economic determinants of physical activity across the life course: A "DEterminants of DIet and Physical ACtivity" (DEDIPAC) umbrella literature review.

BACKGROUND: To date, the scientific literature on socioeconomic correlates and determinants of physical activity behaviours has been dispersed throughout a number of systematic reviews, often focusing on one factor (e.g. education or parental income) in one specific age group (e.g. pre-school children or adults). The aim of this umbrella review is to provide a comprehensive and systematic overview of the scientific literature from previously conducted research by summarising and synthesising the importance and strength of the evidence related to socioeconomic correlates and determinants of PA behaviours across the life course. METHODS: Medline, Embase, ISI Web of Science, Scopus and SPORTDiscus were searched for systematic literature reviews and meta-analyses of observational studies investigating the association between socioeconomic determinants of PA and PA itself (from January 2004 to September 2017). Data extraction evaluated the importance of determinants, strength of evidence, and methodological quality of the selected papers. The full protocol is available from PROSPERO (PROSPERO2014:CRD42015010616). RESULTS: Nineteen reviews were included. Moderate methodological quality emerged. For adults, convincing evidence supports a relationship between PA and socioeconomic status (SES), especially in relation to leisure time (positive relationship) and occupational PA (negative relationship). Conversely, no association between PA and SES or parental SES was found for pre-school, school-aged children and adolescents. CONCLUSIONS: Available evidence on the socioeconomic determinants of PA behaviour across the life course is probable (shows fairly consistent associations) at best. While some evidence is available for adults, less was available for youth. This is mainly due to a limited quantity of primary studies, weak research designs and lack of accuracy in the PA and SES assessment methods employed. Further PA domain specific studies using longitudinal design and clear measures of SES and PA assessment are required.

Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two clinically overlapping heritable connective tissue disorders strongly associating with pain, fatigue and other secondary aspects. Though not considered a diagnostic criterion for most EDS subtypes, cardiovascular involvement is a well-known complication in EDS. A case-control study was carried out on 28 adults with JHS/EDS-HT diagnosed according to current criteria, compared to 29 healthy subjects evaluating resting electrocardiographic (ECG), 24-h ECG and resting heart ultrasound data. Results obtained in the ECG studies showed a moderate excess in duration of the PR interval and P wave, an excess of heart conduction and rate abnormalities and an increased rate of mitral and tricuspid valve insufficiency often complicating with "true" mitral valve prolapse in the ecocardiographic study. These variable ECG subclinical anomalies reported in our sample may represent the resting surrogate of such a subnormal cardiovascular response to postural changes that are known to be present in patients with JHS/EDS-HT. Our findings indicate the usefulness of a full cardiologic evaluation of adults with JHS/EDS-HT for the correct management.

Double coronary artery anomaly in an elderly asymptomatic patient with positive electrocardiogram stress test.

Malignant coronary artery anomalies and myocardial bridging are more common findings in young patients with cardiac symptoms, but these two associated yet different types of anomalies in an elderly patient has been rarely described. The following case describes the diagnostic use of 128-slice coronary-computed tomography images of an 82-year-old male, former professional soccer player, who reached the age of 82 years without any symptoms of coronary heart disease. In this patient, an association of a malignant coronary artery anomaly of origin and course (left descending coronary artery originating from the right sinus of valsalva running between the aorta and the right ventricular outflow tract), together with a long myocardial bridging over the obtuse marginal branch was diagnosed by multi-slice computed tomography thanks to an initial positive electrocardiogram screening stress test.

Into the wardrobe of Narnia: beyond HIV infection a world of cardiovascular risk.

A 38-years-old HIV-hepatitis C virus (HCV) coinfected woman presented to us for dyslipidemia. Clinical, familial and laboratory data were consistent with the diagnosis of familial heterozygous hypercholesterolaemia. History, clinical examination and laboratory findings also supported suspected acromegaly. A pituitary MRI showed a sellar macroadenoma that was removed by transphenoidal surgery without complications. MRI carried out 6 months after surgery showed almost complete removal of the adenoma. This case report describes an uncommon association of diseases, very different for aetiology--genetic for FH, infectious for HIV and HCV, caused by excessive hormone secretion for acromegaly--clinical features and therapy, but all sharing a significant impact on cardiovascular risk as a common feature.

PFAPA syndrome in a young adult with a history of tonsillectomy.

Since its clinical definition in 1987, the syndrome called, "periodic fever, aphtous stomatitis, pharyngitis and cervical adenitis" syndrome (PFAPA) has been considered peculiar to pediatric age. In the recent literature there are a few case reports of PFAPA in adults. We describe a case of a 21-year-old female affected by PFAPA who presented a history of tonsillectomy at the age of four. To our knowledge this is the fourth case described with a diagnosis of PFAPA in an adult with a history of tonsillectomy during childhood. Although the role of tonsillectomy in the treatment of PFAPA is still controversial, due to the lack of definitive data in literature, this case suggests that fever episodes may relapse several years after surgery.

Atrial fibrillation and right bundle branch block complicating coil embolization of a huge pulmonary arterio-venous malformation.

Coil embolization is a safe therapy for pulmonary arterio-venous malformations (PAVMs). We report the case of a 72-year-old woman affected by hereditary hemorrhagic teleangectasia who experienced right bundle branch block and atrial fibrillation 36 hours after embolization of an extended PAVM. To our knowledge, this is the first case of such a complication of embolization of a pulmonary fistula, presumably due to an acute pressure overload on both the right atrium and ventricle. This case report suggests that, after embolization of extended pulmonary fistulas, patients should be carefully monitored for rhythm disturbance and new onset of intraventricular conduction defects.

A study on QT interval in patients affected with inflammatory bowel disease without cardiac involvement.

Cardiac involvement has been studied quite extensively in patients affected by inflammatory bowel disease but, as of now, there is no data regarding QT alterations which are well known to be linked to the risk of dangerous arrhythmias. In this study, QT parameters were digitally measured on standard 12-lead ECG in a population of 20 patients affected by inflammatory bowel disease (IBD), with no prior (recent or old) history of cardiac disease and no evidence of electrolyte imbalance. Eighteen healthy subjects formed the control group. The results obtained using non-parametric statistics (Wilcoxon-Mann-Whitney test) showed that heart rate corrected QT interval (QTc) and QTc dispersion (QTc d) values were both significantly higher in IBD patients than in the control group. QTc rank sum values in patients affected by inflammatory bowel disease were 469 versus 311 in healthy subjects (Z = 1.939, p = 0.0263). QTc d rank sum values were 460 in IBD patients versus 320 in controls (Z = 1.686 with p = 0.0459). Regardless of the cause of these QT alterations, it appears evident that accurate monitoring of QT parameters is required in these patients who often experience electrolyte disturbances and who may, in some cases, be undergoing treatment with potentially cardiotoxic drugs such as infliximab.