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Objectives: to investigate lifestyle, health-related behaviours, and nutritional knowledge among a sample of Italian university students and to identify social determinants of - and barriers to - healthier lifestyles., Design: cross-sectional observational study., Setting and Participants: students attending degree courses in health professions in a single university in Northern Italy (No. 1,495) were invited to participate in a structured web survey., Main Outcome Measures: a comprehensive, validated questionnaire was used. Questions regarded nutritional knowledge and habits, smoking habit, physical activity, self-efficacy, and barriers to change. Anthropometric and sociodemographic information was collected. Descriptive statistics were used to summarize results. With single and multiple regression models, differences between subgroups and ranked predictors of students' attitudes towards healthy behaviours were analysed. Statistical significance was set at p<0.05., Results: a total of 554 subjects completed the survey (participation rate: 42%; completion rate: 88%). Students showed good nutritional knowledge (73%), but some deficiencies related to low fruit/high sweets consumption, and a lack of basic macronutrients information. Only 30% of the students led a very active lifestyle and physical inactivity was greatest among overweight/obese students. Sedentary lifestyle and unhealthy diet were mainly associated with modifiable risk factors, e.g., being overweight and smoking., Conclusions: this study provides evidence that health profession students have good knowledge, but their health-related lifestyle is a concern, especially given the role of prescribers that they will play. Structured programmes need to be developed to address the modifiable risk factors associated with detrimental behaviours manifest already during the university years.

Background: the relationship between physical exercise and gut microbiota has opened new therapeutic frontiers for many inflammatory diseases. However, there is still a lot of uncertainty about how to administer exercise., Objectives: to review the literature to bridge this gap and examine the relationship between cardiorespiratory fitness (CRF) and microbiota., Design: systematic review., Setting and Participants: studies involving humans who undergoing exercise programmes of any lengths, intensities, and types were included. The research was carried out through PubMed, Scopus, and Web of Science., Main Outcome Measures: the primary outcome was change in gut microbiota composition (α and β-diversity), while the secondary outcome was the CRF level., Results: the 15 studies included (all with PEDro scale <=5) used aerobic training alone or combined with resistance exercises. In general, exercise has shown positive effects on the microbiota, influencing the faecal count of some bacterial phyla (in particular Bacteroidetes, Firmicutes, and Proteobacteria), with a weak tendency towards proportionality in relation to training duration and intensity. However, the evidence supporting the exercise effects on the gut microbiota and the relationship with CRF are of low quality., Conclusions: despite the weak evidence in favour of the effects of the practice of physical exercise on the intestinal microbiota, there are still many aspects that need to be explored. In particular, future studies shall have higher quality and methodological rigour, standardize the methods for outcome assessment, and determine type and thresholds of interventions intensity and duration.

The Smart Star model is a rating system to evaluate the quality of care in nursing homes for the elderly; it uses a five star rating score. We tested the model in a sample of 16 nursing homes in Italy. The Smart Star model showed to be effective in the multidimensional evaluation of the performance of nursing homes. One of the major strengths of the model consisted in its flexibility of application, that suggested its possible adaptation for different areas of healthcare.

Objective To identify the prevalence of the practice of defensive medicine among Italian hospital physicians, its costs and the reasons for practising defensive medicine and possible solutions to reduce the practice of defensive medicine. Methods Cross-sectional web survey. Main outcome measures Number of physicians reporting having engaged in any defensive medicine behaviour in the previous year. Results A total of 1313 physicians completed the survey. Ninety-five per cent believed that defensive medicine would increase in the near future. The practice of defensive medicine accounted for approximately 10% of total annual Italian national health expenditure. Conclusions Defensive medicine is a significant factor in health care costs without adding any benefit to patients. The economic burden of defensive medicine on health care systems should provide a substantial stimulus for a prompt review of this situation in a time of economic crisis. Malpractice reform, together with a systematic use of evidence-based clinical guidelines, is likely to be the most effective way to reduce defensive medicine.

The aim of this observational descriptive study was to identify the main international models evaluating the quality of nursing homes for non self-sufficient elderly persons, and to apply them in the Italian health system. Firstly, a bibliographic search of institutional websites and Pubmed-Medline was performed to identify the main international models. Secondly, three variables were chosen to evaluate the level of implementability of the models: (1) frequency of use of quality indicators in the international models; (2) degree of constructability of the models in two Italian nursing homes; (3) perceived relevance of the indicators used by the chosen models, by nursing home workers. Thirdly, the chosen models were evaluated. Three international models were identified, respectively used in USA, Canada and Australia. About 80% of the indicators used by the three models were constructable in the two Italian nursing homes that were evaluated. The two nursing homes were "promoted" according to the Canadian model, "better than sufficient" according to the Australian model, but "failed" when US model indicators were applied. The poorest performances in the two Italian nursing homes, with respect to international quality standards, were related to indicators of incontinence, physical restraints (1,1% for USA and 13% for Canada and Australia, versus 55% in one of the nursing homes and 30% in the second home), diagnosis of depressive symptoms, and antipneumococcical vaccination (0% in the two nursing homes, in comparison with the 93,8% in the USA). A low level of performance in prevention and safety matters was identified, while performance was higher for aspects warranted by law. The survey also revealed thatnursing home workers' perceptions of the utility of specific indicators were often based on habit rather than on the actual relevance of care indicators. The development of a model of quality of care that offers a multidimensional evaluation of the level of performance of Italian nursing homes is needed.

Importance: The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespread availability of next-generation DNA sequencing methods. Nevertheless, a genetic diagnosis remains unavailable for many patients., Objective: To identify the genetic cause for a novel form of pure autosomal dominant HSP., Design, Setting, and Participants: We examined and followed up with a family presenting to a tertiary referral center for evaluation of HSP for a decade until August 2014. Whole-exome sequencing was performed in 4 patients from the same family and was integrated with linkage analysis. Sanger sequencing was used to confirm the presence of the candidate variant in the remaining affected and unaffected members of the family and screen the additional patients with HSP. Five affected and 6 unaffected participants from a 3-generation family with pure adult-onset autosomal dominant HSP of unknown genetic origin were included. Additionally, 163 unrelated participants with pure HSP of unknown genetic cause were screened., Main Outcome and Measure: Mutation in the neuronal isoform of carnitine palmitoyl-transferase (CPT1C) gene., Results: We identified the nucleotide substitution c.109C>T in exon 3 of CPT1C, which determined the base substitution of an evolutionarily conserved Cys residue for an Arg in the gene product. This variant strictly cosegregated with the disease phenotype and was absent in online single-nucleotide polymorphism databases and in 712 additional exomes of control participants. We showed that CPT1C, which localizes to the endoplasmic reticulum, is expressed in motor neurons and interacts with atlastin-1, an endoplasmic reticulum protein encoded by the ATL1 gene known to be mutated in pure HSPs. The mutation, as indicated by nuclear magnetic resonance spectroscopy studies, alters the protein conformation and reduces the mean (SD) number (213.0 [46.99] vs 81.9 [14.2]; P < .01) and size (0.29 [0.01] vs 0.26 [0.01]; P < .05) of lipid droplets on overexpression in cells. We also observed a reduction of mean (SD) lipid droplets in primary cortical neurons isolated from Cpt1c-/- mice as compared with wild-type mice (1.0 [0.12] vs 0.44 [0.05]; P < .001), suggesting a dominant negative mechanism for the mutation., Conclusions and Relevance: This study expands the genetics of autosomal dominant HSP and is the first, to our knowledge, to link mutation in CPT1C with a human disease. The association of the CPT1C mutation with changes in lipid droplet biogenesis supports a role for altered lipid-mediated signal transduction in HSP pathogenesis.

Background: In the past two decades peripheral blood stem cells (PBSCs) have increasingly replaced marrow as stem cells source for allogeneic transplantation. The PBSC donation initially applied only to related donors; later, due to the safety of the procedure, it was extended to unrelated donors., Study Design and Methods: We have retrospectively collected data regarding mobilization, collection, and short- and long-term follow-up of 190 consecutive donors, 174 related and 16 unrelated. All donors followed a standard protocol for mobilization and underwent at least one PBSC collection. Follow-up in related donors was performed every 4 months in the first year and then annually, with no time limits, while unrelated donors were monitored for 10 years., Results: All 190 donors completed the established mobilization protocol. The mobilizing capacity was significantly greater in males and in donors less than 60 years old. No case of major toxicity by granulocyte-colony-stimulating factor was found, nor thromboembolic events. The total dose of CD34+/recipient (median 5.8×10(6)/kg recipient/body weight) was statistically correlated with age, CD34+ before and after mobilization, and collection efficiency. Compliance to follow-up was 66%, with a significant difference between related and unrelated (63% vs. 100%, p=0.03). During follow-up no significant abnormalities in hematologic variables or hematologic malignancies were reported., Conclusion: Our study allowed us to define the PBSC donation as "a safe procedure for the donors," with short- and long-term effects limited to a small percentage of donors and "effective for the recipient," due to the dose of collected CD34+, adequate for transplantation in almost all recipients., (© 2012 American Association of Blood Banks.)

Background: The primary aim of the present study was to determine the survival rates and identify predictors of disease duration in a cohort of Huntington's disease (HD) patients from Southern Italy., Methods: All medical records of HD patients followed between 1977 and 2008 at the Department of Neurological Sciences of Federico II University in Naples were retrospectively reviewed and 135 patients were enrolled in the analysis. At the time of data collection, 41 patients were deceased (19 males and 22 females) with a mean ± SD age at death of 56.6 ± 14.9 years (range 18-83)., Results: The median survival time was 20 years (95% CI: 18.3-21.7). Cox regression analysis showed that the number of CAG in the expanded allele (HR 1.09 for 1 point triplet increase, p=0.002) and age of onset (HR 1.05 for 1 point year increase, p=0.002) were independent and significant predictors of lower survival rates., Conclusions: We believe that these findings are important for a better understanding of the natural history of the disease and may be relevant in designing future therapeutic trials.

Despite the recognized potential of long-term survival or even growth of fecal indicators bacteria (FIB) in marine sediments, this compartment is largely ignored by health protection authorities. We conducted a large-scale study over approximately 50 km of the Marche coasts (Adriatic Sea) at depths ranging from 2 to 5 m. Total and fecal coliforms (FC) were counted by culture-based methods. Escherichia coli was also quantified using fluorescence in situ hybridization targeting specific 16S rRNA sequences, which yielded significantly higher abundances than culture-based methods, suggesting the potential importance of viable but nonculturable E. coli cells. Fecal coliforms displayed high abundances at most sites and showed a prevalence of E. coli. FC isolates (n = 113) were identified by API 20E, additional biochemical tests, and internal transcribed spacer-PCR. E. coli strains, representing 96% of isolates, were then characterized for genomic relatedness and phylogenetic group (A, B1, B2, and D) of origin by randomly amplified polymorphic DNA and multiplex-PCR. The results indicated that E. coli displayed a wide genotypic diversity, also among isolates from the same station, and that 44 of the 109 E. coli isolates belonged to groups B2 and D. Further characterization of B2 and D isolates for the presence of 11 virulence factor genes (pap, sfa/foc, afa, eaeA, ibeA, traT, hlyA, stx(1), stx(2), aer, and fyuA) showed that 90% of B2 and 65% of D isolates were positive for at least one of these. Most of the variance of both E. coli abundance and assemblage composition (>62%) was explained by a combination of physical-chemical and trophic variables. These findings indicate that coastal sediments could represent a potential reservoir for commensal and pathogenic E. coli and that E. coli distribution in marine coastal sediments largely depends upon the physical and trophic status of the sediment. We conclude that future sampling designs aimed at monitoring the microbiological quality of marine coastal areas should not further neglect the analysis of the sediment and that monitoring of these environments can be improved by including molecular methods as a complement of culture-based techniques.

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive weakness and spasticity in the lower limbs. Spasticity may occur in isolation (''pure'' HSP) or may be accompanied by other features. Although autosomal recessive HSPs usually have clinically complex phenotypes, mutations within a few genes underlie pure forms. Recently the gene (CYP7B1) responsible for SPG5, a pure recessive HSP, has been identified. The six CYP7B1 coding exons were analysed in four Italian families. Complete clinical assessment was performed in all patients. Blood CYP7B1 mRNA levels were assessed in three patients and six controls. Brain MRI and (18)F-fluoro-deoxy-glucose positron emission tomography (PET) scan were conducted in three patients. Two novel homozygous mutations were identified. Both result in a frameshift and the introduction of a premature stop codon at the C-terminal of the protein. Patients have reduced blood CYP7B1 mRNA levels, suggesting nonsense mediated RNA decay. Although clinical assessment showed a pure form of spastic paraplegia, MRI demonstrated white matter abnormalities in three patients and PET scan revealed cerebellar hypometabolism in one. Based on the results, we report the first Italian families with SPG5 molecular characterization and describe two novel truncating mutations in CYP7B1. The recessive character, the truncating nature of the mutations, and the reduced peripheral blood CYP7B1 mRNA levels suggest that the development of the disease is associated with a loss of function. SPG5 is considered a pure form of HSP, but MRI and PET findings in our patients suggest that SPG5 phenotype may be broader than the pure presentation.

Germline point mutations in BRCA1 and BRCA2 genes account for about 30% of the inherited breast and ovarian cancers. Germline genomic rearrangements have been found in both BRCA1 and BRCA2 genes, but the extent to which these alterations might contribute to increasing the actual mutation detection rate is still debated. Here we screened a cohort of 112 consecutive Italian families at moderate-to-high risk for breast and/or ovarian cancer for BRCA1 and BRCA2 point mutations and genomic rearrangements. Of the 83 point mutation negative probands, two (2.4%) showed BRCA1 rearrangements, accounting for 10.5% of the BRCA1 mutations. BRCA1 del18-19 has been previously described in another Italian family, while the molecular characterization of the BRCA1 del23-24 is given here for the first time. Conversely, we failed to identify any BRCA2 rearrangements even in the hereditary breast cancer families, where we detected an higher prevalence of BRCA2 compared to BRCA1 point mutations. Our results support the idea that search for BRCA1 rearrangements should be included in the genetic screening of even moderate risk breast/ovarian cancer families. In contrast, they suggest BRCA2 rearrangements might be very rare out of the high risk families including a male breast cancer.

Familial aggregations of breast/ovarian cancer cases frequently depend on BRCA1/2 pathogenic mutations. Here we counselled 120 Italian breast/ovarian cancer families and selected 73 probands for BRCA1/2 mutation screening. Through this analysis we defined the prevalence of BRCA1/2 pathogenic mutations occurring in Italian breast/ovarian cancer families, enlarged the spectrum of Italian BRCA1/2 mutations by 15% and report on the identification of 13 novel variants, including two deleterious truncating mutations and two potentially pathogenic missense mutations, on the BRCA1 and BRCA2 genes. Finally in hereditary breast cancer families with three or more female breast cancer cases we observed a low mutation prevalence and a significant association with BRCA2 mutations.

Background: Breast cancer is an extremely complex disease, characterized by a progressive multistep process caused by interactions of both genetic and non-genetic factors. A combination of BRCA1 and BRCA2 gene mutations appears responsible for about 20%-30% of the cases with breast cancer familial history. The prevalence of BRCA1/2 pathogenic mutations largely varies within different populations; in particular, the rate of mutations in Italian breast and/or ovarian cancer families is rather controversial and ranges from 8% to 37%., Patients and Methods: Of the 152 breast/ovarian cancer families counseled in our centre, 99 were selected for BRCA1/2 mutation screening according to our minimal criteria. The entire coding sequences and each intron/exon boundary of BRCA1/2 genes were screened by direct sequencing (PTT limited to BRCA1 exon 11). For each proband, the a priori probability of carrying a pathogenic BRCA1/2 germline mutation was calculated by means of different mutation prediction models (BRCApro, IC and Myriad Table) in order to evaluate their performances., Results: Our analysis resulted in the identification of 25 and 52 variants in the BRCA1 and BRCA2 genes, respectively. Seventeen of them represent novel variants, including four deleterious truncating mutations in the BRCA2 gene (472insA, E33X, C1630X and IVS6+1G>C). Twenty-seven of the 99 probands harbored BRCA1 (n = 15) and BRCA2 (n = 12) pathogenic germline mutations, indicating an overall detection rate of 27.3% and increasing by more than 15% the spectrum of mutations in the Italian population. Furthermore, we found the lowest detection rate (19.4%) in pure hereditary breast cancer family subset. All of the prediction models showed praises and faults, with the IC software being extremely sensitive but poorly specific, compared to BRCApro. In particular all models accumulated most false-negative prediction in the HBC subset. Interestingly preliminary results of a study addressing the presence of genomic rearrangements in HBC probands with BRCApro or IC prediction scores >/=95%, provided evidence for additional mutations undetectable with our conventional screening for point mutations., Conclusions: Altogether our results suggest that HBC families, the largest pool in our series, represent an heterogeneous group where the apparently faulty performances of the prediction models might be at least partially explained by the presence of additional kinds of BRCA1/2 alteration (such as genomic rearrangements) or by mutations on different breast cancer related genes.

Inherited mutations of the BRCA1/2 genes confer a significantly increased risk for breast and/or ovarian cancer development. Several models were elaborated to help genetic counsellors in selecting individuals with high probability of being mutation carriers. The IC software, a country-customized version of the Brcapro model, was recently shown to be particularly accurate in the prediction of carrier probability status in the Italian population. Here, we used our independent series of 70 breast/ovarian cancer families to analyze the performances of the IC software and compare it to widely used models, such as Brcapro and the Myriad mutation prevalence tables. Analysis of the areas under the receiver operator characteristics (ROC) curves indicated that overall the models performed well. However, the IC software and Myriad tables were more efficient in predicting mutated cases, showing a higher sensitivity (94 and 88%, respectively) and negative predictive value (NPV, 94 and 92%, respectively) compared to Brcapro (sensitivity 71 and NPV 83%). IC software also appeared particularly accurate in the identification of families belonging the low mutation risk group (<10%). Finally, most Brcapro failures occurred in the hereditary breast cancer (HBC) family subset, and in 75% of the cases, the IC software corrected them. Our data suggest that the country-customized implementation operated on the Brcapro software generated a more accurate tool for the prediction of BRCA1/2 gene mutation. Whether the IC or other country-customized models might improve BRCA1/2 mutation prediction also in non-Italian families needs to be further explored.

Autologous stem cell transplantation (ASCT) is largely employed in primary resistant or recurrent Hodgkin's Lymphoma (HL), while its role early in the course of the disease is still controversial. Our purpose was to analyse the results of 51 high-risk HL patients autografted at our Institution and the role of possible prognostic risk factors for the outcome. Twelve (23.5%) patients were in complete remission at transplant and were transplanted as having an high risk disease; 20 (39.5%) patients were in partial response and 19 (37.0%) were transplanted as primary induction failure. At a median time of 38 (6-111) months from ASCT, 36 (70.5%) patients are alive in complete remission, 8 (15.5%) patients are alive with disease and 7 (14.0%) died for progression. Thirty out of 32 (94.0%) patients transplanted with responsive disease (either complete or partial response) are alive without disease. Six out of 19 (32.0%) patients transplanted with resistant disease are alive in complete remission. The overall survival of the entire population is 77.0% at 60 (14-151) months from diagnosis. Disease free survival of the 22 patients that achieved a complete remission after ASCT (16 in partial response and 6 with resistant disease) is 100%. In our experience, more than 90% of patients transplanted with responsive but high risk disease, seem achieving and maintaining a durable complete remission, and more than 30.0% of patients submitted to ASCT with refractory disease can be potentially rescued by transplant.

Objectives: To evaluate the possible relationship between angiotensin-converting enzyme (ACE) insertion-deletion (ID) genotype and insulin resistance in a population of healthy older Italian subjects., Design: Prospective recruitment of a convenience sample., Participants: One hundred twenty-five subjects age 62 to 105 in good health and not taking any drug known to interfere with glucose metabolism., Results: In the sample population, the relative frequencies of the ACE genotypes deletion-deletion (DD) (0.424), ID (0.400), and insertion-insertion (II) (0.176) were not significantly different from values predicted by Hardy-Weinberg equilibrium. The genotype distribution was similar in men and women. Subjects carrying the II genotype had a higher FPG (P <.001) and FPI (P <.001) than did subjects with DD or ID genotype. Subjects with II genotype also had a significantly higher HOMA index than did subjects with DD or ID genotype (P for trend <.002). In a multivariate stepwise regression analysis, the ACE ID polymorphism was significantly and independently associated with the HOMA index (P <.001). The same result was confirmed performing multivariate analysis in the younger group and centenarians separately., Conclusions: In an older population, the presence of II ACE genotype is associated with a high degree of insulin resistance independent of other anthropometric variables known to interfere with insulin action; this association is significant in both the younger subjects and the centenarians.

Background: Optimal care for frail elderly patients depends on comprehensive assessment. This is especially true in the complex setting of interdisciplinary home care programs. To facilitate comprehensive assessment, as well as to generate a useful, policy-relevant patient database, standardized, multidimensional, and validated instruments are very helpful., Objectives: The aim of the present study was to demonstrate that the Minimum Data Set assessment instrument for Home Care (MDS-HC) can be used to detect functional and cognitive impairment as defined by analogous research instruments., Research Design: This was a cross-sectional correlation study., Subjects: We studied 95 patients admitted to home care services of the Health Care Agency of Bergamo (Italy)., Measures: The MDS-HC form was completed for all patients by well-trained nurses, independently of and with nurses blinded to the results from the research rating scales. The Barthel Activities of Daily Living (ADL) Index, the Instrumental Activities of Daily Living of Lawton (IADL), and the Mini Mental State Examination (MMSE) were considered the gold standard., Results: Agreement between the MDS-HC scales and the research rating scales was assessed with Pearson's correlation coefficient. This coefficient was 0.74 for MDS-ADL versus Barthel Index, 0.81 for MDS-IADL versus Lawton Index, and 0.81 for Cognitive Performance Scale versus MMSE, indicating an excellent agreement., Conclusions: The MDS-HC scales, when performed by trained nurses using recommended protocols, provide a valid measure of function and cognitive status in frail home care patients. These findings point out the overall validity of the functional and clinical data contained in the MDS-HC assessment. Use of the MDS-HC gives the unique opportunity of setting up a database, a prerequisite for all epidemiological evidence-based medicine studies.