Trends in Net Survival from Vulvar Squamous Cell Carcinoma in Italy (1990–2015)

Objective: In many Western countries, survival from vulvar squamous cell carcinoma (VSCC) has been stagnating for decades or has increased insufficiently from a clinical perspective. In Italy, previous studies on cancer survival have not taken vulvar cancer into consideration or have pooled patients with vulvar and vaginal cancer. To bridge this knowledge gap, we report the trend in survival from vulvar cancer between 1990 and 2015. (2) Methods: Thirty-eight local cancer registries covering 49% of the national female population contributed the records of 6274 patients. Study endpoints included 1- and 2-year net survival (NS) calculated using the Pohar-Perme estimator and 5-year NS conditional on having survived two years (5|2-year CNS). The significance of survival trends was assessed with the Wald test on the coefficient of the period of diagnosis, entered as a continuous regressor in a Poisson regression model. (3) Results: The median patient age was stable at 76 years. One-year NS decreased from 83.9% in 1990–2001 to 81.9% in 2009–2015 and 2-year NS from 72.2% to 70.5%. Five|2-year CNS increased from 85.7% to 86.7%. These trends were not significant. In the age stratum 70–79 years, a weakly significant decrease in 2-year NS from 71.4% to 65.7% occurred. Multivariate analysis adjusting for age group at diagnosis and geographic area showed an excess risk of death at 5|2-years, of borderline significance, in 2003–2015 versus 1990–2002. (4) Conclusions: One- and 2-year NS and 5|2-year CNS showed no improvements. Current strategies for VSCC control need to be revised both in Italy and at the global level

The effectiveness of computerized clinical guidelines in the process of care: a systematic review

<p>Abstract</p> <p>Background</p> <p>Clinical practice guidelines have been developed aiming to improve the quality of care. The implementation of the computerized clinical guidelines (CCG) has been supported by the development of computerized clinical decision support systems.</p> <p>This systematic review assesses the impact of CCG on the process of care compared with non-computerized clinical guidelines.</p> <p>Methods</p> <p>Specific features of CCG were studied through an extensive search of scientific literature, querying electronic databases: Pubmed/Medline, Embase and Cochrane Controlled Trials Register. A multivariable logistic regression was carried out to evaluate the association of CCG's features with positive effect on the process of care.</p> <p>Results</p> <p>Forty-five articles were selected. The logistic model showed that Automatic provision of recommendation in electronic version as part of clinician workflow (Odds Ratio [OR]= 17.5; 95% confidence interval [CI]: 1.6-193.7) and Publication Year (OR = 6.7; 95%CI: 1.3-34.3) were statistically significant predictors.</p> <p>Conclusions</p> <p>From the research that has been carried out, we can conclude that after implementation of CCG significant improvements in process of care are shown. Our findings also suggest clinicians, managers and other health care decision makers which features of CCG might improve the structure of computerized system.</p

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

To identify genetic causes of intellectual disability (ID), we screened a cohort of 986 individuals with moderate to severe ID for variants in 565 known or candidate ID-associated genes using targeted next-generation sequencing. Likely pathogenic rare variants were found in ∼11% of the cases (113 variants in 107/986 individuals: ∼8% of the individuals had a likely pathogenic loss-of-function [LoF] variant, whereas ∼3% had a known pathogenic missense variant). Variants in SETD5, ATRX, CUL4B, MECP2, and ARID1B were the most common causes of ID. This study assessed the value of sequencing a cohort of probands to provide a molecular diagnosis of ID, without the availability of DNA from both parents for de novo sequence analysis. This modeling is clinically relevant as 28% of all UK families with dependent children are single parent households. In conclusion, to diagnose patients with ID in the absence of parental DNA, we recommend investigation of all LoF variants in known genes that cause ID and assessment of a limited list of proven pathogenic missense variants in these genes. This will provide 11% additional diagnostic yield beyond the 10%-15% yield from array CGH alone.Action Medical Research (SP4640); the Birth Defect Foundation (RG45448); the Cambridge National Institute for Health Research Biomedical Research Centre (RG64219); the NIHR Rare Diseases BioResource (RBAG163); Wellcome Trust award WT091310; The Cell lines and DNA bank of Rett Syndrome, X-linked mental retardation and other genetic diseases (member of the Telethon Network of Genetic Biobanks (project no. GTB12001); the Genetic Origins of Congenital Heart Disease Study (GO-CHD)- funded by British Heart Foundation (BHF)This is the final version of the article. It first appeared from Wiley via http://dx.doi.org/10.1002/humu.2290

Cancer data quality and harmonization in Europe: the experience of the BENCHISTA Project – international benchmarking of childhood cancer survival by stage

IntroductionVariation in stage at diagnosis of childhood cancers (CC) may explain differences in survival rates observed across geographical regions. The BENCHISTA project aims to understand these differences and to encourage the application of the Toronto Staging Guidelines (TG) by Population-Based Cancer Registries (PBCRs) to the most common solid paediatric cancers.MethodsPBCRs within and outside Europe were invited to participate and identify all cases of Neuroblastoma, Wilms Tumour, Medulloblastoma, Ewing Sarcoma, Rhabdomyosarcoma and Osteosarcoma diagnosed in a consecutive three-year period (2014-2017) and apply TG at diagnosis. Other non-stage prognostic factors, treatment, progression/recurrence, and cause of death information were collected as optional variables. A minimum of three-year follow-up was required. To standardise TG application by PBCRs, on-line workshops led by six tumour-specific clinical experts were held. To understand the role of data availability and quality, a survey focused on data collection/sharing processes and a quality assurance exercise were generated. To support data harmonization and query resolution a dedicated email and a question-and-answers bank were created.Results67 PBCRs from 28 countries participated and provided a maximally de-personalized, patient-level dataset. For 26 PBCRs, data format and ethical approval obtained by the two sponsoring institutions (UCL and INT) was sufficient for data sharing. 41 participating PBCRs required a Data Transfer Agreement (DTA) to comply with data protection regulations. Due to heterogeneity found in legal aspects, 18 months were spent on finalizing the DTA. The data collection survey was answered by 68 respondents from 63 PBCRs; 44% of them confirmed the ability to re-consult a clinician in cases where stage ascertainment was difficult/uncertain. Of the total participating PBCRs, 75% completed the staging quality assurance exercise, with a median correct answer proportion of 92% [range: 70% (rhabdomyosarcoma) to 100% (Wilms tumour)].ConclusionDifferences in interpretation and processes required to harmonize general data protection regulations across countries were encountered causing delays in data transfer. Despite challenges, the BENCHISTA Project has established a large collaboration between PBCRs and clinicians to collect detailed and standardised TG at a population-level enhancing the understanding of the reasons for variation in overall survival rates for CC, stimulate research and improve national/regional child health plans

Simulazione dinamica di un sistema di produzione avanzato: il caso "Rotating Seru"

La complessità del mercato odierno, dovuta principalmente ad una domanda caratterizzata da ampia varietà di piccoli volumi e da cicli di vita dei prodotti sempre più brevi, ha spinto imprese manifatturiere nel campo dell’elettronica a ricercare una valida alternativa alle classiche linee di assemblaggio. Questo ha portato allo sviluppo di un nuovo paradigma per i sistemi di assemblaggio: Il Seru Production System. L’introduzione di questo nuovo approccio, pur avendo portato numerosi vantaggi in termini di competitività, non è stato documentato a sufficienza da studiosi e ricercatori di tutto il mondo. A vent’anni dalla sua introduzione, infatti, sono ancora pochi gli studi condotti in quest’ambito e la gran parte di essi è stata pubblicata esclusivamente in lingua giapponese, questo ci ha spinto ad analizzare più dettagliatamente le prestazioni di tale sistema. In particolare, si è deciso, mediante l’ausilio del software di simulazione AutoMod, di analizzare le prestazioni di una specifica tipologia di Seru: il Rotating Seru. Dopo una breve introduzione al contesto in cui nasce tale sistema ed alle sue caratteristiche principali si passa ad una descrizione dettagliata del caso studio oggetto delle nostre simulazioni e della metodologia che ho portato alla costruzione del modello di simulazione. Infine, vengono mostrati ed analizzati i risultati ottenuti che evidenziano la notevole capacità di questo sistema nell’adattare la produzione a circostanze di prodotti e domande variabili. La possibilità, infatti, di assegnare un numero di prodotti diverso ad un diverso numero di Seru presieduto da un numero variabile di operatori aumenta notevolmente le configurazioni possibili e quindi la flessibilità del sistema stesso

Sclerotherapy of the pampiniform plexus with modified Marmar technique in children and adolescents

Aims: Treatment of varicocele in children is a debated problem for which no validated guidelines exist. Several techniques have been proposed to solve this problem. The aim of this study was to evaluate the effectiveness and applicability of a modified Marmar technique in the treatment of varicocele in children and adolescents. Methods:From April 2004 to September 2005, we evaluated 25 patients between the ages of 9 and 18 (mean 14.4) years, who suffered from left-sided varicocele with concomitant testicular hypotrophy. The diagnosis was ascertained clinically and with scrotal color Doppler ultrasound using the Dubin and Amelar classification. In 2 cases phimosis was also present. The operation was performed according to a modified Marmar technique, using embolization of the pampiniform plexus with 2 ml of 3% polidocanol. Patients underwent clinical evaluation and scrotal color Doppler ultrasound at 1 week and 3 and 6 months. Results: The mean duration of the operation was 42 min. At 1 week after surgery no persistence of varicocele was found. In 1 patient, edema of the spermatic cord occurred for about 2 months with spontaneous regression, in 1 patient homolateral hydrocele was observed. At 6 months no other complications were reported. No case of testicular atrophy was observed. Conclusions: The technique described has already been validated in the adult population, and although we present only a small number of cases, the operation proved easy to perform, safe, of low cost and can be considered a valid alternative to the microsurgical technique in children and adolescents