Trends in hospital acquired New Delhi metallo-beta-lactamase-producing Enterobacterales in Tuscany (Italy) from 2019 to 2021: impact of the COVID-19 pandemic.

OBJECTIVES: In Tuscany, Italy, New Delhi metallo-beta-lactamase-producing carbapenem-resistant Enterobacterales (NDM-CRE) in hospitalized patients has increasingly been observed since 2018, leading in 2019 to the implementation of enhanced control measures successfully reducing transmission. We describe the NDM-CRE epidemiology during the COVID-19 pandemic in Tuscany. METHODS: Data on NDM-CRE patients hospitalized in five Tuscan hospitals were collected from January 2019 to December 2021. Weekly rates of NDM-CRE cases on hospital days in medical and critical-care wards were calculated. In March-December 2020, NDM-CRE rates were stratified by COVID-19 diagnosis. Multi-variate regression analysis was performed to assess outcomes' differences among two periods analysed and between COVID-19 populations. RESULTS: Since March 2020, an increase in NDM-CRE cases was observed, associated with COVID-19 admissions. COVID-19 patients differed significantly from non-COVID-19 ones by several variables, including patient features (age, Charlson index) and clinical history and outcomes (NDM-CRE infection/colonization, intensive care unit stay, length of stay, mortality). During the pandemic, we observed a higher rate of NDM-CRE cases per hospital day in both non-COVID-19 patients (273/100,000) and COVID-19 patients (370/100,00) when compared with pre-pandemic period cases (187/100,00). CONCLUSIONS: Our data suggest a resurgence in NDM-CRE spread among hospitalized patients in Tuscany during the COVID-19 pandemic, as well as a change in patients' case-mix. The observed increase in hospital transmission of NDM-CRE could be related to changes in infection prevention and control procedures, aimed mainly at COVID-19 management, leading to new challenges in hospital preparedness and crisis management planning.

Mutations in GDI1 and X-linked non-specific mental retardation.

Mental retardation (MR) is a complex phenotype characterized by suboptimal functioning of the central nervous system (CNS). It is estimated that from 1 to 3% of the general population is affected with MR. MR or "intellectual disability" can be caused by genetic as well as environmental causes that act on the development and functioning of the CNS prenatally, perinatally or postnatally. Genetic causes of MR include chromosome aneusomies, chromosome structural abnormalities, genomic disorders and monogenic diseases. Amongst children, acute MR (QI < 50) is estimated at 0.4% and faint MR is about 2.5-3%. To determine the etiology of the MR, many diagnostic studies have been conducted and they show that MR is very heterogeneous and its etiology is not yet known in 20-50% of the group of patients with severe MR. This percentage increases up to 75-80% in the group of individuals with mild or "borderline" forms of MR. In light of the literature results, we tried to carry out a screening of 41 subjects with nonspecific MR for the detection of mutations in the gene GDI1 using the DHPLC methodology. This technique has the following advantages: low cost, high sensitivity (> 95%), and it can be done quickly. We have found 3 nucleotide (nt) substitutions: an intronic polymorphism at nt 107877 A --> C, a polymorphism in exon 3 at nt 109259 T --> C (Asn73Asn), and an intronic polymorphism at nt 110314 G --> C. The mutations in this gene are common and do not seem to influence the gene expression so as to cause a change in phenotype. These results therefore do not encourage the research of a diagnostic protocol designed for mutational analysis of the GDI1 human gene as the only responsible factor for a complex disease as Mental Retardation X-linked (MRX).