Search

Background: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide. Patients with severe MTHFR deficiency develop neurological disorders and premature vascular disease. Timely diagnosis through NBS allows early treatment, resulting in improved outcomes., Methods: we report the diagnostic yield of genetic testing for MTHFR deficiency diagnosis, in a reference Centre of Southern Italy between 2017 and 2022. MTHFR deficiency was suspected in four newborns showing hypomethioninemia and hyperhomocysteinemia; otherwise, one patient born in pre-screening era showed clinical symptoms and laboratory signs that prompted to perform genetic testing for MTHFR deficiency., Results: molecular analysis of the MTHFR gene revealed a genotype compatible with MTHFR deficiency in two NBS-positive newborns and in the symptomatic patient. This allowed for promptly beginning the adequate metabolic therapy., Conclusions: our results strongly support the need for genetic testing to quickly support the definitive diagnosis of MTHFR deficiency and start therapy. Furthermore, our study extends knowledge of the molecular epidemiology of MTHFR deficiency by identifying a novel mutation in the MTHFR gene.

The warning by the Italian Medicines Agency on the high shortage of azithromycin in the country in January 2022 represents a paradigmatic lesson learnt from improper use of antibiotics during COVID-19 pandemic.

To describe and evaluate outcomes of Gamma Knife radiosurgery (GK) for the treatment of pituitary tumors over the past twenty years, a systematic review and meta-analysis according to PRISMA statement was performed. Articles counting more than 30 patients were included. A weighted random effects models was used to calculate pooled outcome estimates. From 459 abstract reviews, 52 retrospective studies were included. Among them, 18 reported on non-functioning pituitary adenomas (NFPA), 13 on growth hormone (GH)-secreting adenomas, six on adrenocorticotropic hormone (ACTH)-secreting adenomas, four on prolactin hormone (PRL)-secreting adenomas, and 11 on craniopharyngiomas. Overall tumor control and five-year progression free survival (PFS) estimate after one GK procedure for NFPA was 93% (95% CI 89-97%) and 95% (95% CI 91-99%), respectively. In case of secreting pituitary adenomas, overall remission (cure without need for medication) estimates were 45% (95% CI 35-54%) for GH-secreting adenomas, 64% (95% CI 0.52-0.75%) for ACTH-secreting adenomas and 34% (95% CI: 19-48%) for PRL-secreting adenomas. The pooled analysis for overall tumor control and five-year PFS estimate after GK for craniopharyngioma was 74% (95% CI 67-81%) and 70% (95% CI: 64-76%), respectively. This meta-analysis confirms and quantifies safety and effectiveness of GK for pituitary tumors.

Prematurity is the leading cause of neonatal deaths and high economic costs; it depends on numerous biological and social factors, and is highly prevalent in males. Several factors can affect the metabolome of premature infants. Accordingly, the aim of the present study was to analyze the role played by gestational age (GA), parenteral nutrition (PN), and caffeine treatment in sex-related differences of blood metabolome of premature neonates through a MS/MS-based targeted metabolomic approach for the detection of amino acids and acylcarnitines in dried blood spots. GA affected the blood metabolome of premature neonates: male and female very premature infants (VPI) diverged in amino acids but not in acylcarnitines, whereas the opposite was observed in moderate or late preterm infants (MLPI). Moreover, an important reduction of metabolites was observed in female VPI fed with PN, suggesting that PN might not satisfy an infant's nutritional needs. Caffeine showed the highest significant impact on metabolite levels of male MLPI. This study proves the presence of a sex-dependent metabolome in premature infants, which is affected by GA and pharmacological treatment (e.g., caffeine). Furthermore, it describes an integrated relationship among several features of physiology and health.

Several infectious agents are ascertained causes of cancer, but the burden of cancer mortality attributable to carcinogenic infections in Italy is still unknown. To tackle this issue, we calculated the rate and regional distribution of cancer deaths due to infections sustained by seven pathogens ranked as group 1 carcinogenic agents in humans by the International Agency for Research on Cancer. Population attributable fractions related to these agents were applied to annual statistics of cancer deaths coded according to the 10th International Classification of Diseases. The estimated burden of cancer mortality attributable to carcinogenic infections in Italy during the period 2011-2015 was 8.7% of all cancer deaths registered yearly, on average. Approximately 60% of deaths occurred in men, and almost the whole burden was due to four infectious agents ( Helicobacter pylori , hepatitis C virus, high-risk human papillomavirus, and hepatitis B virus). The analysis of regional distribution showed a higher number of infection-related cancer deaths in the northern regions, where the estimates reached 30 (Liguria) and 28 (Friuli Venezia Giulia) deaths per 100,000 inhabitants in 2015. Since one-twelfth of cancer deaths were attributable to these modifiable risk factors, the implementation of appropriate prevention and treatment interventions may help to reduce the impact of these infections on cancer mortality.

We collected and analysed 58 samples of groundwater from wells in the Barcellona-Milazzo Plain, one of the most important coastal aquifers of Sicily (Italy), to determine major, minor, and trace element concentrations. In this area, geogenic and anthropogenic sources of heavy metals and other pollutants co-act, making the individuation of the main pollution sources difficult. Our work was aimed at the application of geostatistical criteria for discriminating between these pollution sources. We used probability plots for separating anomalous values from background concentrations, which were plotted on maps and related to possible sources of pollutants. Our results indicate that hydrothermal fluid circulation and the water⁻rock interaction of country rocks that host mineralized ore deposits generate a significant flux of heavy metals to groundwater, as well as anthropogenic sources like intense agriculture and industrial activities. In particular, NO₃, F, and Ni exceed the Maximum Admitted Concentrations (MACs) established by the WHO and Italian legislation for drinking-water. The spatial distributions of geogenic and anthropogenic sources were so deeply interlocked that their separation was not easy, also employing geostatistical tools. This complex scenario makes the implementation of human health risk mitigation actions difficult, since the flow of pollutants is in many cases controlled by simple water⁻rock interaction processes.

Background and objectives: Vaccination against bacterial pathogens is decisive for preventing invasive meningococcal disease and pediatricians play a pivotal role in vaccination compliance and coverage. The aim of this study was to investigate awareness, attitude, and practices toward the vaccine against Meningococcal B serogroup (4CMenB) among a sample of Italian pediatricians. Materials and Methods: A cross-sectional study was carried out using an online questionnaire from March to May 2015. Three multivariate logistic regression models were built to identify factors associated with the outcomes of interest. Results : The data showed that 95.5% of the interviewees correctly responded about the availability of 4CMenB vaccine in Italy, while only 28.0% knew the vaccination schedule for children aged two years or under. This knowledge was significantly higher in younger pediatricians and in those who worked a higher number of hours per week. Pediatricians self-reported a positive attitude toward the utility and safety of 4CMenB vaccine. Those pediatricians with a strong positive attitude toward the utility of the vaccine, who knew the vaccination schedules for children of two years or under, and who declared a satisfactory or good knowledge about the vaccine were more likely to inform parents about its availability in Italy, recommend the vaccination, and verify patients' vaccination status, in their daily practice. Conclusions : The study highlights factors that currently influence pediatricians' practices regarding the 4CMenB vaccine. The results showed the possible actions recommended to improve physicians' awareness and behaviors in order to improve the vaccination compliance and invasive meningococcal diseases prevention.