Ricerc@Sapienza

The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%–70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mostly of the conotruncal type (CTD), whereas others have normal cardiac anatomy. In this study, we tested whether variants in the hemizygous LCR22A-D region are associated with risk for CTDs on the basis of the sequence of the 22q11.2 region from 1,053 22q11.2DS individuals.

We evaluated age at natural menopause and the prevalence of premature ovarian failure (POF) in a monocentric Caucasian cohort of patients with systemic lupus erythematosus (SLE).

For the diagnosis of anti-MAG polyneuropathy the commercial ELISA manufacturer currently recommends a cut-off of 1000 Bühlmann Titer Units (BTU). We analyzed sera from 80 anti-MAG neuropathy patients and 383 controls (with other neuropathies or healthy controls) to assess the ELISA sensitivity and specificity at different thresholds. A better combination of sensitivity/specificity was found at a threshold >1500 BTU than at >1000 BTU. The best value of specificity was obtained at threshold >7000 BTU.

Multidrug-resistant (MDR) organisms are emerging as some of the main healthcare prob-lems worldwide. During the COVID-19 pandemic, several Infection Prevention and Control (IPC) measures have been adopted to reduce nosocomial microorganism transmission. We performed a case–control study to identify if the incidence of MDR bacterial infections while using pandemic-related preventive measures is lower than in previous years. From 2017 to 2020, we monitored hospital discharges over a four-month period (P #) (1 March to 30 June) in St. Andrea Hospital, Rome.

Background. Patients suffering from cerebellar ataxia have extremely variable gait kinematic features. We investigated whether and how wearable inertial sensors can describe the gait kinematic features among ataxic patients. Methods. We enrolled 17 patients and 16 matched control subjects. We acquired data by means of an inertial sensor attached to an ergonomic belt around pelvis, which was connected to a portable computer via Bluetooth. Recordings of all the patients were obtained during overground walking.

Purpose: Sudden sensorineural hearing loss (SSNHL) has similarities to conditions with vascular etiologies such as myocardial infarction and cerebral stroke. Thus, it could be considered as an early sign of a vascular disease and not only a specific local condition. Chronic hypoperfusion in the brain districts leads to a chronic ischemic damage, called cerebral small vessel disease (CSVD), detectable with brain magnetic resonance imaging (MRI).

PURPOSE: To measure foveal morphology using optical coherence tomography (OCT). METHODS: Three examiners classified normal subjects and patients with macular edema and epiretinal membranes from a normative database (299 OCT scans) and a study sample (80 OCT scans) on the basis of the foveal depression appearance (reference classification). The following parameters were measured for each OCT scan: Central Foveal Thickness (CFT), Central Subfield Thickness (CST), Central Subfield Volume (CSV), Centrofoveal Index (CI), Parafoveal Index (PI), and Foveal Indices (FI1, FI2, FI3).

Between September 2014 and December 2015, 32 patients with inguinal hernia were treated using a new 3D mesh in our department. This mesh is characterized by a multilamellar flower-shaped central core with a flat, large-pore polypropylene ovoid disk that has to be implanted preperitoneally. Compared with the traditional Lichtenstein procedure, we observed a shorter mean duration of surgery and a significantly lower mean visual analogue scale (VAS) postoperative pain score recorded immediately after the procedure in the 3D mesh group.

Background: Data on the clinical course and outcomes of pediatric patients with cytomegalovirus (CMV) infection complicating acute severe ulcerative colitis (ASC) are very limited. The aim of our study was to compare outcomes of children with ASC who were CMV positive or CMV negative. Methods: This was a multicenter retrospective case-controlled study, from centers affiliated with the Pediatric Inflammatory Bowel Disease Porto Group of European Society of Pediatric Gastroenterology, Hepatology, and Nutrition.

The aim of this study was to assess the efficacy and tolerability of trabectedin given every 10 days as a single agent in recurrent ovarian cancer after 3 prior regimens.