Search

Background: Women with deleterious mutations in BRCA1/2 have a high lifetime penetrance of developing breast cancer and/or ovarian cancer. Genetic and/or environmental factors may influence BRCA penetrance, and identifying modifiable exposures might be valuable for prevention., Patients and Methods: We implemented a multicenter prospective 2-arm (1:1) randomized controlled trial to investigate whether a Mediterranean dietary intervention with moderate protein restriction would reduce potential modulators of BRCA penetrance such as insulin-like growth factor 1 (IGF-1), body weight, and metabolic risk factors. We studied the baseline characteristics of women with BRCA-positive disease who joined the trial cohort, focusing on the relationships between selected lifestyle exposures, metabolic/anthropometric parameters, and BRCA-related cancer., Results: A total of 502 women (304 with a previous diagnosis of breast cancer and/or ovarian cancer and 198 unaffected) with deleterious BRCA mutations, with or without a previous cancer, aged 18 to 70 years and without metastases were included. Late age at menarche and pregnancy were negatively associated with BRCA-related cancer, especially in women with BRCA1-positive disease. Higher fat mass and the presence of 4 or 5 metabolic risk factors were significantly associated with BRCA-related cancer (hazard ratio, 1.87, 95% confidence interval, 1.21-2.88; and hazard ratio, 1.87, 95% confidence interval, 1.11-3.19, respectively), with greater effect in BRCA2-positive women., Conclusions: Our findings confirm previous observations about reproductive factors in women with BRCA disease and suggest a potential impact of metabolic factors in BRCA-related cancer. The prospective follow-up of the trial cohort will enable us to study the environmental modulators of BRCA penetrance and their impact in relation to the history of BRCA-related cancer. [ClinicalTrials.gov NCT03066856]., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Objects: The aim of the study is the translation, culturally adaptation and validation of the Italian version of Quebec User Evaluation of Satisfaction with Assistive Technology 2.0 (QUEST-IT 2.0) in an Italian population with users of mobility assistive device, through a cross sectional study., Materials and Methods: To evaluate internal consistency and test-retest reliability, Cronbach's? and Intraclass Correlation Coefficient (ICC) were respectively calculated. The WheelCon-M is administered together, and Pearson's correlation coefficient was calculated for validity., Results: The scale was submitted to 130. The mean QUEST-IT 2.0 score in this study was 37.39 ± 9.35. Cronbach's? was 0.740 ( p  < 0.01) and ICC was 0.853 and >0.994 in each domain. The correlation with WheelCon-M short form a was 0.30 ( p  < 0.05)., Conclusions: the QUEST-IT 2.0 showed out good consistent results for reliability and validity. This scale will be very useful for doctors, researchers and occupational therapist in the valuation and management of mobility assistive device.IMPLICATIONS FOR REHABILITATIONThe Italian version of the QUEST 2.0 (QUEST-IT 2.0) in now available and health professionals can use it with more confidence.The QUEST-IT 2.0 is a valid and reliable assessment tool when used with a sample of assistive mobility device users.

Background: Balloon pulmonary angioplasty (BPA) represents a therapeutic option for the treatment of chronic thromboembolic pulmonary hypertension (CTEPH) in patients who are not eligible for surgical pulmonary endarterectomy (PEA) or with persistent/recurrent symptomatic pulmonary arterial hypertension after PEA. This study evaluated the safety of BPA during 5 years of experience of the only Italian center systematically performing this procedure., Methods: The BPA program was activated at the S. Orsola Polyclinic in Bologna in June 2015. Life-threatening periprocedural complications were defined as: death <30 days, need for cardiopulmonary support, hemoptysis with the need for endotracheal intubation. Serious complications were vascular complications requiring surgical or percutaneous intervention. Other endpoints of interest were: hemoptysis, pulmonary vascular damage with or without hemoptysis, and pulmonary reperfusion injury with high-resolution computed tomography lung scan at 24 h., Results: From June 2015 to September 2020, 50 patients (45% male, median age 68 years), 42 inoperable and 8 with persistent/recurrent pulmonary hypertension after PEA, underwent 156 BPA procedures at our institution. There was one life-threatening complication (2% of patients, 0.06% of the procedures), i.e. severe hemoptysis requiring endotracheal intubation, and four serious complications (8% of the patients, 2.6% of the procedures), i.e. one pulmonary artery perforation requiring percutaneous treatment and three access-site vascular complications requiring surgery. There were no deaths <30 days. Pulmonary reperfusion injury occurred in 37 patients (74%) for a total of 96 sessions (62%). However, reperfusion injury was limited and with subclinical course in most cases., Conclusions: This study confirmed the relative safety of BPA in patients with CTEPH who are not candidates for heart surgery or with persistent pulmonary hypertension after PEA in the first large Italian experience.

Study Design: Cross-sectional study., Objectives: To examine the construct validity and the ability to detect change, of the Italian version of the Canadian Occupational Performance Measure (COPM) in a spinal cord injury (SCI) population., Settings: Rehabilitation service of the Paraplegic Center of Ostia, Italy., Methods: Thirty-nine spinal cord injury participants were recruited. The clinimetric properties of the measure were assessed following international guidelines. Cronbach's alpha and the intraclass correlation coefficient were assessed for internal consistency and test-retest reliability, respectively. Construct validity was evaluated, by calculating correlation between COPM and the Spinal Cord Independence Measure (SCIM) through Pearson's correlation coefficient and Spearman's Rho. The ability to detect change was evaluated on the overall sample., Results: The COPM was shown to be reliable in a spinal cord injury sample with positive and statistically significant results for Cronbach's alpha (0.89) and ICC (0.99 for the performance subtest and 0.98 for the satisfaction subtest). Correlation coefficients did not show a correlation between the COPM total score and the SCIM. The COPM scores improved significantly during in-patient rehabilitation, moreover the mean change between the start of treatment and the end of the therapy as evaluated with the Wilcoxon signed-rank test was -4.25 points for the performance score and -2.96 points for the satisfaction score., Conclusions: This study showed that the COPM is a reliable tool for assessing SCI clients' perceived performance of daily activities and their satisfaction with their performance., Competing Interests: Conflict of interestThe authors declare that they have no conflict of interest., (© International Spinal Cord Society 2019.)

Importance: Having a test to evaluate hand function is fundamental to occupational therapy practice., Objective: To assess the psychometric properties of the Italian version of the Jebsen-Taylor Hand Function Test (JTHFT)., Design: Cross-sectional study., Setting: Three health care institutions in Rome, Italy., Participants: 136 people with injuries, burns, or neurological diseases of the hand., Intervention: No intervention was provided., Outcomes and Measures: We administered the JTHFT, an assessment of fine motor skills during performance of activities of daily living, and compared results with dynamometer readings., Results: The mean ± standard deviation total time required to perform all subtests was 89.47 ± 67.98 s for the dominant hand (DH) and 167.11 ± 257.58 s for the nondominant hand (NDH). Reliability procedures were applied to data from 51 participants; mean intrarater intraclass correlation coefficient (ICC) was .814 for the DH and .981 for the NDH, and mean interrater ICC was .818 for the DH and .821 for the NDH. Pearson's correlation coefficients were significant., Conclusion and Relevance: Results support the use of the Italian version of the JTHFT as a measure of functional dexterity in people with upper limb disorders., What This Article Adds: The JTHFT is a valid and reliable assessment tool for nonspecific hand diseases. Italian health professionals can now use the JTHFT with more confidence., (Copyright © 2019 by the American Occupational Therapy Association, Inc.)

Background: In liver cirrhosis, the renin-angiotensin-aldosterone system is involved in the pathogenesis of portal hypertension. Its effector, angiotensin II, is generated by angiotensin-converting enzyme (ACE). Serum ACE levels are affected by I/D polymorphism of its gene, with alleles I and D being associated, respectively, with lesser and greater activity of the enzyme. In cirrhotic patients carrying the ACE I allele, an increased risk for gastro-oesophageal varices was observed., Aim: The aim of our study was to evaluate whether ACE I/D polymorphism influenced portal pressure., Methods: Fifty-one consecutive cirrhotic patients were divided based on ACE genotype (DD, ID, and II). Kidney and liver function tests, upper endoscopy, and hepatic venous pressure gradient measurement (HVPG) were performed in all patients., Results: The presence of the ACE I allele was associated with a higher HVPG value (18.7±6.4 vs 10.3±6.3mmHg; P<.001), higher frequency of large gastrooesophageal varices (59.3% vs 25.0%; P<.05), and higher frequency of variceal bleeding (63.0% vs 29.2%; P<.05). No significant differences were found between patients with and those without the ACE I allele regarding Child-Pugh score, MELD score, ascites, and hepatic encephalopathy., Conclusion: ACE I/D polymorphism seems to influence the severity of portal hypertension and the risk of variceal bleeding in liver cirrhosis, regardless of the severity of liver disease., (Copyright © 2018 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.)

This study explores validity, reliability, and factor analysis of the Quebec User Evaluation of Satisfaction with Assistive Technology (IT-QUEST) for users of assistive technology devices in an Italian population. It was administered to 75 people to determine which of the 24 original items were relevant to the Italian context using exploratory and confirmatory factor analyses (EFAs and CFAs) were conducted with internal consistency and test-retest reproducibility also evaluated. The EFA and CFA showed that the 24-item survey may have limited relevance to the Italian context. We individuated 12 significative items, divided into two subscales, as well as the original validation. The test-retest showed high values of the Intraclass Correlation Coefficient (ICC) (0.7-0.9), with a 0.812 ICC for the total scale providing support and evidence for Italian professionals to evaluate user satisfaction with assistive technology devices. This research also lays the foundation for developing a validation study of the IT-QUEST 2.0 that is relevant to the Italian culture. Further research may investigate psychometric properties involving more participants and different users of assistive technology devices.

Adult-type hypolactasia is a widespread condition throughout the world, causing lactose malabsorption. Several studies suggested that the identification of C/T-13910 and G/A-22018 mutations, located upstream the gene encoding the lactase-phlorizin hydrolase (LPH), is a useful tool for the differential diagnosis of hypolactasia. We evaluated the frequencies of C/T-13910 and G/A-22018 variants in a central-south Italian population and the usefulness of lactase deficiency genetic testing in the clinic practice. The genomic DNA of 1426 patients and 1000 healthy controls from central-south Italy was isolated from peripheral whole blood and genotyped for the C/T-13910 and G/A-22018 polymorphisms by high-resolution melting analysis (HRMA) and sequencing. The frequencies of genotypes in the 1426 patients analysed were as follows: 1077 CC/GG (75.5%), 287 CT/GA (20.1%), 24 TT/AA (1.7%), 38 CC/GA (2.7%). Only 64 out of 1426 (4.5%) performed also L-BHT test, 29 of which were negative for L-BHT also in presence of different genotypes. Among the 35 individuals with L-BHT positive, 34 were CC/GG and only one CT/GA. Although lactose genetic test is a good predictor of persistence/non-persistence lactase in specific population, its use in the central-south Italy population should be limited given the high prevalence of the CCGG diplotype in normal individuals., (Copyright © 2014 Elsevier B.V. All rights reserved.)