P.Re.Val.E.: outcome research program for the evaluation of health care quality in Lazio, Italy

<p>Abstract</p> <p>Background</p> <p>P.Re.Val.E. is the most comprehensive comparative evaluation program of healthcare outcomes in Lazio, an Italian region, and the first Italian study to make health provider performance data available to the public.</p> <p>The aim of this study is to describe the P.Re.Val.E. and the impact of releasing performance data to the public.</p> <p>Methods</p> <p>P.Re.Val.E. included 54 outcome/process indicators encompassing many different clinical areas. Crude and adjusted rates were estimated for the 2006-2009 period. Multivariate regression models and direct standardization procedures were used to control for potential confounding due to individual characteristics. Variable life-adjusted display charts were developed, and 2008-2009 results were compared with those from 2006-2007.</p> <p>Results</p> <p>Results of 54 outcome indicators were published online at <url>http://www.epidemiologia.lazio.it/prevale10/index.php</url>.</p> <p>Public disclosure of the indicators' results caused mixed reactions but finally promoted discussion and refinement of some indicators.</p> <p>Based on the P.Re.Val.E. experience, the Italian National Agency for Regional Health Services has launched a National Outcome Program aimed at systematically comparing outcomes in hospitals and local health units in Italy.</p> <p>Conclusions</p> <p>P.Re.Val.E. highlighted aspects of patient care that merit further investigation and monitoring to improve healthcare services and equity.</p

Hepatic and extra-hepatic sequelae, and prevalence of viral hepatitis C infection estimated from routine data in at-risk groups

<p>Abstract</p> <p>Background</p> <p>Concerns about the hepatitis C virus (HCV) are due to the high risk of chronic liver disease and poor treatment efficacy. Synthesizing evidence from multiple data sources is becoming widely used to estimate HCV-infection prevalence. This paper aims to estimate the prevalence of HCV infection, and the hepatic and extrahepatic sequelae in at-risk groups, using routinely collected data in the Lazio region, Italy.</p> <p>Methods</p> <p>HCV laboratory surveillance and dialysis, hospital discharge, and drug-user registers were used as information sources to identify at-risk groups and to estimate HCV prevalence and sequelae.</p> <p>Full name and birth date were used as linkage keys for the various health registries. Prevalence was estimated as the percentage of cases within the general population and the at-risk groups, with 95% confidence intervals (95% CI) from 1997 to 2001. The risk of sequelae was estimated through a follow-up of hospital discharges up to December 31, 2004 and calculated as the prevalence ratio in HCV-positive and HCV-negative people, within each at-risk group, with 95% CI.</p> <p>Results</p> <p>There were 65,127 HCV-infected people in the study period; the prevalence was 1.24% (95%CI = 1.23%-1.25%) in the whole population, higher in males and older adults. Drug users (35.1%; 95%CI = 34.6-35.7) and dialysis patients (21.1%; 95%CI = 20.2%-22.0%) showed the highest values. Medical procedures with little exposure to blood resulted in higher estimates, ranging between 1.3% and 3.4%, which was not conclusively attributable to the surgical procedures. Cirrhosis, hepatocellular carcinoma and encephalopathy were the most frequent hepatic sequelae; cryoglobulinaemia and non-Hodgkin's lymphoma were the most frequent extrahepatic sequelae.</p> <p>Conclusions</p> <p>Synthesising data from multiple routine sources improved estimates of HCV prevalence and sequelae in dialysis patients and drug users, although prevalence validity should be assessed in survey and sequelae need a well-defined longitudinal approach.</p

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy

Background: Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement. Objectives: To provide epidemiological data of EPP in Italy. Materials and Methods: Prospective/retrospective data of EPP patients were collected by an Italian network of porphyria specialist centres (Gruppo Italiano Porfiria, GrIP) over a 20-year period (1996-2017). Results: In total, 179 patients (79 females) with a clinical and biochemical diagnosis of EPP were assessed, revealing a prevalence of 3.15 cases per million persons and an incidence of 0.13 cases per million persons/year. Incidence significantly increased after 2009 (due to the availability of alfa-melanotide, which effectively limits skin photosensitivity). Mean age at diagnosis was 28 years, with only 22 patients (12.2%) diagnosed 6410 years old. Gene mutations were assessed in 173 (96.6%) patients; most (164; 91.3%) were FECH mutations on one allele in association with the hypomorphic variant, c.315-48C, on the other (classic EPP), and nine (5.2%) were ALAS2 mutations (X-linked EPP). Only one case of autosomal recessive EPP was observed. Of the 42 different FECH mutations, 15 are novel, three mutations collectively accounted for 45.9% (75/164) of the mutations (c.215dupT [27.2%], c.901_902delTG [11.5%] and c.67\u2009+\u20095G\u2009&gt;\u2009A [7.2%]), and frameshift mutations were prevalent (33.3%). A form of light protection was used by 109/179 (60.8%) patients, and 100 (56%) had at least one \u3b1-melanotide implant. Three cases of severe acute liver involvement, requiring OLT, were observed. Conclusions: These data define, for the first time, the clinical and molecular epidemiology of EPP in Italy

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.MethodsIn a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.ResultsAll anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations.ConclusionKnowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.221

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Purpose: Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluati

Mortality inequalities in Rome: the role of individual education and neighbourhood real estate market // Differenziali di mortalità a Roma: il ruolo dell’istruzione e dei prezzi immobiliari del quartiere di residenza

OBIETTIVI: studiare l’associazione tra livello di istruzione, prezzi degli immobili nel quartiere in cui si risiede e mortalità per tutte le cause. DISEGNO: studio di coorte. SETTING E PARTECIPANTI: dalla coorte censuaria del 2011 sono stati selezionati i residenti a Roma, viventi (da fonte anagrafica) all’indirizzo del censimento, di età compresa tra i 18 e i 99 anni. I soggetti sono stati seguiti, attraverso record linkage con database amministrativi, fino a dicembre 2016. I dati includono informazioni individuali quali genere, età, istruzione, quartiere di residenza, data di morte. I quartieri sono stati classificati secondo il prezzo degli immobili (euro/m2). PRINCIPALI MISURE DI OUTCOME: mortalità per tutte le cause, analizzata con modelli di Cox. RISULTATI: sono stati inclusi 2.051.376 individui (54% donne, 22,5% con un alto livello di istruzione). Durante il follow-up, sono morte 127.352 persone. L’istruzione è un forte determinante della mortalità. Tenendo conto di età, genere, stato civile e prezzo degli immobili nel quartiere di residenza, rispetto a chi ha un livello di istruzione alto, le persone con un’istruzione media hanno un hazard ratio (HR) di 1,16 (IC95% 1,14-1,19) e quelle con un’istruzione bassa hanno un HR di 1,35 (IC95% 1,32-1,37). Tenendo conto degli stessi fattori e del titolo di studio, a ogni mille euro di aumento del prezzo al m2 degli immobili corrisponde un HR di 0,96 (IC95% 0,96-0,97). CONCLUSIONI: entrambi gli indicatori utilizzati sono associati alla mortalità per tutte le cause. Un semplice indicatore come il prezzo immobiliare può essere utilizzato per mettere in luce disuguaglianze nello stato di salute.OBJECTIVES: to investigate the association between real estate prices, education, and mortality. DESIGN: cohort study. SETTING AND PARTICIPANTS: residents in Rome at the 2011 Italian Census, not living in institutions, and living in the address reported in the Census survey. People aged 18-99 years were followed from 2011 to 2016 using anonymous record linkage procedures with administrative databases. The Census includes several individual information, such as gender, age, education, residential neighbourhood. Data and cause of death were collected from mortality register. Real estate prices (euros/m2) were available for each neighbourhood. MAIN OUTCOME MEASURES: adjusted Cox regression models (hazard ratios - HRs and 95%CIs) were used to estimate the association among individual education, real estate price in the neighbourhood, and mortality. RESULTS: the subjects selected were 2,051,376 (54% women, 22.5% with high education level). During the follow-up, 127,352 subjects died. Taking into account gender, age, marital status, and real estate prices, education level was strongly associated with all-cause mortality; compared to highly educated the higher mortality, risk was 35% (95%CI 32%-37%) for low education level and 16% (95%CI 14%-19%) for medium education level. Taking into account the same factors and education level, each increase of 1,000 euros in price/m2 was inversely associated with mortality (HR 0.96, 95%CI 0.96-0.97). CONCLUSIONS: there is an independent association between the two indicators and mortality in Rome. A simple indicator such as real estate prices can be used to tackle inequalities