A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.

Significance Statement: To optimize the diagnosis of genetic kidney disorders in a cost-effective manner, we developed a workflow based on referral criteria for in-person evaluation at a tertiary center, whole-exome sequencing, reverse phenotyping, and multidisciplinary board analysis. This workflow reached a diagnostic rate of 67%, with 48% confirming and 19% modifying the suspected clinical diagnosis. We obtained a genetic diagnosis in 64% of children and 70% of adults.

Ferric carboxymaltose vs. ferrous sulfate for the treatment of anemia in advanced chronic kidney disease: an observational retrospective study and cost analysis.

In non-dialysis-dependent chronic kidney disease (NDD-CKD), erythropoiesis-stimulating agents (ESAs) and iron supplementation are essential for anemia management. Ferric carboxymaltose (FCM) is a relatively novel intravenous iron formulation used in different clinical settings, although scarce data exist in NDD-CKD patients. Primary objective of this study was to retrospectively evaluate the efficacy of FCM compared with oral ferrous sulfate for the treatment of iron-deficiency anemia in a cohort of NDD-CKD patients, considering also the treatment costs.

Adjectives Modulate Sensorimotor Activation Driven by Nouns.

We performed three experiments to investigate whether adjectives can modulate the sensorimotor activation elicited by nouns. In Experiment 1, nouns of graspable objects were used as stimuli. Participants had to decide if each noun referred to a natural or artifact, by performing either a precision or a power reach-to-grasp movement.

Correction to: Cost‑effectiveness analysis of stand‑alone or combined non‑invasive imaging tests for the diagnosis of stable coronary artery disease: results from the EVINCI study.

In the Published article, the value in the abstract has been published incorrectly. The correct abstract section is as follows.

Cost-effectiveness analysis of stand-alone or combined non-invasive imaging tests for the diagnosis of stable coronary artery disease: results from the EVINCI study.

Aim: This study aimed at evaluating the cost-effectiveness of different non-invasive imaging-guided strategies for the diagnosis of obstructive coronary artery disease (CAD) in a European population of patients from the Evaluation of Integrated Cardiac Imaging in Ischemic Heart Disease (EVINCI) study.

Methods And Results: Cost-effectiveness analysis was performed in 350 patients (209 males, mean age 59 ± 9 years) with symptoms of suspected stable CAD undergoing computed tomography coronary angiography (CTCA) and at least one cardiac imaging stress-test prior to invasive coronary angiography (ICA) and in whom imaging exams were analysed at dedicated core laboratories. Stand-alone stress-tests or combined non-invasive strategies, when the first exam was uncertain, were compared.

Cochlear implant in prelingually deafened oralist adults: speech perception outcomes, subjective benefits and quality of life improvement.

The aim of this study is to report our results in a group of prelingually deafened adults, who followed an oralist rehabilitation programme, and submitted to cochlear implant at our institution. We evaluated 30 prelingually deafened adult patients, 18 males and 12 females, median age 35 years, of a group of 36 prelingually deafened adult patients consecutively submitted to unilateral cochlear implantation at the ENT Unit of the University of Pisa. After implantation, patients achieved significant benefits in terms of speech perception skills, including the ability to have telephone conversations in some cases, quality of life and their own perception of disability.

The social cost of chronic kidney disease in Italy.

This study aims to estimate the mean annual social cost per patient with chronic kidney disease (CKD) by stages 4 and 5 pre-dialyses and cost components in Italy. The multicenter cross-sectional study included all adult outpatients in charge of the 14 main Nephrology Centers of Tuscany Region during 7 weeks from 2012 to 2013. Direct medical costs have been estimated using tariffs for laboratory tests, diagnostic exams, visits, hospitalization and prices for drugs.

The social cost of rheumatoid arthritis in Italy: the results of an estimation exercise.

The objective of this study is to estimate the mean annual social cost per adult person and the total social cost of rheumatoid arthritis (RA) in Italy. A literature review was performed by searching primary economic studies on adults in order to collect cost data of RA in Italy in the last decade. The review results were merged with data of institutional sources for estimating - following the methodological steps of the cost of illness analysis - the social cost of RA in Italy.

Systematic literature review on economic implications and pharmacoeconomic issues of rheumatoid arthritis.

Objectives: To provide a state of the art of economic analyses applied to rheumatoid arthritis (RA).

Methods: A systematic literature review on economic consequences and pharmacoeconomic issues of RA was performed.

Results: 127 valid articles were examined in this review.

Systematic review of the scientific literature on the economic evaluation of cochlear implants in adult patients.

A systematic review of the economic literature of cochlear implants (CI) was conducted with the aim of summarizing the results of studies on the cost effectiveness of monolateral and bilateral (sequential/simultaneous) CI in adult patients affected by severe to profound prelingual and postlingual hearing impairment. The literature search was performed using "PubMed MEDLINE" and the Centre for Reviews and Dissemination search engines. Inclusion criteria related to economic evaluation included primary studies published in English language from January 2000 to May 2010 and aimed to quantify costs of CI and compare monolateral CI vs.

Systematic review of the scientific literature on the economic evaluation of cochlear implants in paediatric patients.

The aim of the study consists in a systematic review concerning the economic evaluation of cochlear implant (CI) in children by searching the main international clinical and economic electronic databases. All primary studies published in English from January 2000 to May 2010 were included. The types of studies selected concerned partial economic evaluation, including direct and indirect costs of cochlear implantation; complete economic evaluation, including minimization of costs, cost-effectiveness analysis (CEA), cost-utility analysis (CUA) and cost-benefit analysis (CBA) performed through observational and experimental studies.

Systematic review of the literature on the clinical effectiveness of the cochlear implant procedure in paediatric patients.

The aim of this systematic review of the literature was to summarize the results of scientific publications on the clinical effectiveness of the cochlear implant (CI) procedure in children. The members of the Working Group first examined existing national and international literature and the principal international guidelines on the procedure. They considered as universally-accepted the usefulness/effectiveness of unilateral cochlear implantation in severely-profoundly deaf children.

Diagnosis and referral of rheumatoid arthritis by primary care physician: results of a pilot study on the city of Pisa, Italy.

The aims of the present study were to evaluate, in the city of Pisa: (1) the prevalence of rheumatoid arthritis; (2) the reliability of the prevalence estimated by primary care physicians, using the rheumatologist's diagnosis as the "gold standard" and (3) the economic impact of the disease. The Tuscany registry of primary care physicians constituted the framework from which a sample of subjects was selected. The rheumatoid arthritis (RA) subjects >18 years followed by each primary care physician constituted the population studied.

HIV coinfection and antiretroviral therapy enhances liver steatosis in patients with hepatitis C, but only in those infected by HCV genotype other than 3.

Background: Liver steatosis is a common finding in hepatitis C virus (HCV) infection and is associated with an increased progression of the disease. However, HCV genotype 3 steatosis presents a peculiar and virus-induced pathogenesis. We analysed the effect of HIV coinfection and antiretroviral therapy on hepatic steatosis and the effect of the steatosis on fibrosis in patients with or without HCV genotype 3 infection.

Late presenters in an HIV surveillance system in Italy during the period 1992-2006.

Objectives: The objectives of this study are to describe trends over time from 1992 to 2006 in the number of newly diagnosed HIV-infected individuals in Modena (Italy) and to describe their clinical and immunological characteristics. We also identify risk factors associated with presenting at late stages of HIV disease.

Methods: All new HIV diagnoses with at least 1 CD4 cell count and known stage of HIV disease were included.

Risk of cancer following immunosuppression in organ transplant recipients and in HIV-positive individuals in southern Europe.

This investigation highlighted the risk of cancer in 8074 HIV-infected people and in 2875 transplant recipients in Italy and France. Observed and expected numbers of cancer were compared through sex- and age-standardised incidence ratios (SIRs) and 95% confidence intervals (CIs). After 15 years of follow-up, the cumulative probability of cancer was 14.

Incidence and timing of infections after liver transplant in Italy.

Background: Infections are one of the main complications that cause high morbidity and mortality in transplant recipients. This study sought to estimate the incidence of infections and their main determinants in liver transplant recipients in the first year after transplantation.

Patients And Methods: A prospective study was conducted on 103 consecutive patients (72% men) who underwent transplantation in three centers in Northern (Bologna) and Central (Rome) Italy in 2005.

Immunosuppression and cancer: A comparison of risks in recipients of organ transplants and in HIV-positive individuals.

The comparison of cancers occurring excessively among HIV-infected and transplanted individuals may help to elucidate the relationship between immune surveillance, viral infections, and cancer. A longitudinal study was conducted on 2002 HIV-infected Italian subjects, 6072 HIV-infected French individuals, and 2878 Italian recipients of solid organ transplants. Standardized incidence ratios (SIR) and 95% confidence intervals (CI) were computed to quantify the risk for cancer, compared with the French and Italian general populations.

Kaposi's sarcoma in transplant and HIV-infected patients: an epidemiologic study in Italy and France.

Background: A follow-up study was conducted in Italy and in France to compare the epidemiology of Kaposi's sarcoma (KS) between human immunodeficiency virus (HIV)-infected people and transplant recipients.

Methods: In all, 8,074 HIV-positive individuals (6,072 from France and 2,002 HIV-seroconverters from Italy) and 2,705 Italian transplant recipients (1,844 kidney transplants, 702 heart transplants, and 159 liver transplants) were followed-up between 1970 and 2004. Standardized incidence ratios (SIRs) and 95% confidence intervals (CIs) were computed to estimate the risk of KS, as compared to sex- and age-matched Italian and French populations.

Risk of Kaposi's sarcoma and of other cancers in Italian renal transplant patients.

A follow-up study of 1844 renal transplant patients in Italy showed a 113-fold increased risk for Kaposi's sarcoma. Kaposi's sarcoma risk was higher in persons born in southern than in northern Italy. Significant increases were also observed for cancers of the lip, liver, kidney and for non-Hodgkin's lymphoma.