[Comparison of conventional culture methods and quantitative real-time PCR methods for the detection of Legionella pneumophila in water samples in a large University teaching hospital in Rome, Italy]. / Confronto tra il metodo colturale standard e la real-time PCR per l'identificazione di Legionella pneumophila in campioni di acqua.

The aims of this study were to identify the best threshold value for the real-time PCR method in detecting the presence of Legionella pneumophila in water samples, and to evaluate the prognostic significance of negative results obtained with the molecular method. From 2011 to 2014, 77 water samples were collected from hospital wards of a large University teaching hospital in Rome (Italy) and screened for L.pneumophila by the standard culture method and by real-time PCR. The high sensitivity and negative predictive value of real-time PCR make this method suitable as a quick screening tool to exclude the presence of L. pneumophila in water samples in the hospital setting.

Survey on knowledge, attitudes, and training needs of Italian residents on genetic tests for hereditary breast and colorectal cancer.

OBJECTIVES: The aim of the study was to assess knowledge and attitudes of medical residents working in Università Cattolica del Sacro Cuore, Rome, Italy, on genetic tests for breast and colorectal cancer. METHODS: We distributed self-administered questionnaire to the residents. Logistic regression models were used to evaluate the determinants of knowledge and attitudes towards the tests. RESULTS: Of 754 residents, 364 filled in questionnaire. Around 70% and 20% answered correctly >80% of questions on breast and colorectal cancer tests, respectively. Knowledge on tests for breast cancer was higher among residents who attended course on cancer genetic testing during graduate training (odds ratio (OR): 1.72; 95% confidence interval (CI): 1.05-2.82) and inversely associated with male gender (OR: 0.55; 95% CI: 0.35-0.87). As for colorectal cancer, residents were more knowledgeable if they attended courses on cancer genetic testing (OR: 2.08; 95% CI: 1.07-4.03) or postgraduate training courses in epidemiology and evidence-based medicine (OR: 1.95; 95% CI: 1.03-3.69). More than 70% asked for the additional training on the genetic tests for cancer during the specialization school. CONCLUSION: The knowledge of Italian residents on genetic tests for colorectal cancer appears to be insufficient. There is a need for additional training in this field.

The link between genetic variation and variability in vaccine responses: systematic review and meta-analyses.

Although immune response to vaccines can be influenced by several parameters, human genetic variations are thought to strongly influence the variability in vaccine responsiveness. Systematic reviews and meta-analyses are needed to clarify the genetic contribution to this variability, which may affect the efficacy of existing vaccines. We performed a systematic literature search to identify all studies describing the associations of allelic variants or single nucleotide polymorphisms in immune response genes with vaccine responses until July 2013. The studies fulfilling inclusion criteria were meta-analyzed. Thirteen studies (11,686 subjects) evaluated the associations of human leukocyte antigen (HLA) and other immunity gene variations with the responses to single vaccines, including MMR-II (measles and rubella virus), HepB (hepatitis virus), influenza virus, and MenC (serogroup C meningococcus) vaccines. Seven HLA genetic variants were included in the meta-analyses. The pooled ORs showed that DRB1*07 (2.46 [95% CI=1.60-3.77]; P for heterogeneity=0.117; I(2)=49.1%), DQA1*02:01 (2.21 [95% CI=1.22-4.00]; P for heterogeneity=0.995; I(2)=0.0%), DQB1*02:01 (2.03 [95% CI=1.35-3.07]; P for heterogeneity=0.449; I(2)=0.0%), and DQB1*03:03 (3.31 [95% CI=1.12-9.78]; P for heterogeneity=0.188; I(2)=42.4%) were associated with a significant decrease of antibody responses to MMR-II, HepB, and influenza vaccines. The pooled ORs showed that DRB1*13 (0.52 [95% CI=0.32-0.84]; P for heterogeneity=0.001; I(2)=85.1%) and DRB1*13:01 (0.19 [95% CI=0.06-0.58]; P for heterogeneity=0.367; I(2)=0.0%) were associated with a significant increase of antibody responses to the above vaccines. While our findings reinforce the concept that individuals with a particular HLA allelic composition are more likely to respond efficiently to vaccines, future studies should be encouraged to further elucidate the link between genetic variation and variability of the human immune response to vaccines.

Death related to aortic coarctation in a young female during sexual intercourse.

Coarctation of the aorta (CA) is diagnosed mainly in pediatric patients, and therapy is conservative if asymptomatic, but surgical treatment is required if advanced arterial hypertension is present. Moderate to severe forms contraindicate any type of physical activity requiring cardiac effort. Here, we describe the first documented death of an apparently healthy 35-year-old woman because of cardiac tamponade by rupture of an aortic aneurysm, possibly related to congenital CA, prolonged use of oxymetazoline hydrochloride, and physical and/or emotional stress during sexual activity. Our patient was asymptomatic for classical CA symptoms. The patient's breathing difficulties likely in hindsight were due not so much to nasal congestion, but rather to an ineffective oxygenation of the blood from the abnormal heart. In an attempt to treat the "nasal disease," the patient ingested chronic and excessive doses of decongestants, aggravating her fatal disease. The danger of inhaling large doses of nasal decongestants without an appropriate medical indication is highlighted here.