ATR-X syndrome is a rare X-linked congenital disorder caused by hypomorphic mutations in the ATRX gene. A typical phenotype is well defined, with cognitive impairment, characteristic facial dysmorphism, hypotonia, gastrointestinal, skeletal, urogenital, and hematological anomalies as characteristic features. With a few notable exceptions, general phenotypic differences related to specific ATRX protein domains are not well established and should not be used, at least at the present time, for prognostic purposes. The phenotypic spectrum and genotypic correlations are gradually broadening, mainly due to rapidly increasing accessibility to NGS. In this scenario, it is important to continue describing new patients, illustrating the mode and age of onset of the typical and non-typical features, the classical ones and those tentatively added more recently. This report of well-characterized and mostly unreported patients expands the ATR-X clinical spectrum and emphasizes the importance of better clinical delineation of the condition. We compare our findings to those of the largest ATR-X series reported so far, discussing possible explanations for the different drawn conclusions.

BACKGROUND The effectiveness of telemedicine strategies for the efficient management of chronic diseases has been evaluated by a number of studies, and the most recent umbrella review of meta-analyses on the topic concluded that there is sufficient evidence supporting the use of telehealth for patients with diabetes, hypertension, or heart failure. However, in-depth assessments of the cost-effectiveness of telemedicine are severely lacking. OBJECTIVE This meta-analysis aimed at estimating the Incremental Cost Effectiveness Ratios (ICER) of telemedicine for the management of type II diabetes mellitus, hypertension, and heart failure. METHODS We searched multiple databases for all randomized or quasi-randomized trials (RCTs), which evaluated the cost-effectiveness of telemedicine versus standard care for managing the selected diseases. The outcomes were the ICER per Quality-Adjusted Life Year (QALY), 1 mmHg reduction of systolic blood pressure (SBP), or 1% reduction of glycated hemoglobin (HbA1c), after 12 months of follow-up. Random-effect meta-analyses were run when sufficient data were provided, and weighted ICER means were computed. RESULTS A total of 22 trials were included in the systematic review (10,978 patients): ten on hypertension, all using telemonitoring, six on hearth failure, and six on diabetes, mostly using telephone support. Meta-analyses were possible for two outcomes only, as most trials did not report a measure of dispersion: (1) the summary estimate of ICER per QALY, based upon four trials (1974 patients), was $42,623 (while the weighted mean, based upon 5 trials, was $29,477); (2) the summary estimate of ICER per 1mmHg SBP reduction, based on five studies, was $27 (while the weighted mean was $132, based upon 9 trials). The weighted means of ICER per QALY for hypertension and diabetes were $22,769 and $40,503, respectively. Finally, the weighted mean of ICER per 1% HbA1c reduction was $3546. Some of the estimates were substantially lower when only recent trials were considered. CONCLUSIONS The results support employing telemedicine as a cost-effective strategy to monitor hypertension, heart failure and, depending on the willingness to pay, diabetes. Further RCTs reporting confidence intervals for ICER are required to confirm these findings.

Background/Objectives: A recent report by the Italian Ministry of Health showed that a high proportion of Emergency Department (ED) visits exceed the maximum recommended thresholds for both waiting time and overall length of stay. As no overall quantitative data are available on the magnitude, temporal evolution, and underlying drivers of ED performance from Southern Italian regions, we analyzed ED data from the Abruzzo region during the years 2017–2024, and evaluated potential predictors of prolonged waiting and process time. Methods: Official, administrative data from all the regional EDs were collected, and information on personnel, location and organizational change was obtained through a dedicated survey. All analyses were stratified and/or adjusted by triage code, hospital, age and sex. Results: From 2017 to 2024, a total of 3,563,565 accesses were recorded in the 16 regional EDs. From 2021, waiting time for the first visit steadily and progressively increased, reaching an average of 78 min in 2024 (+56.0%), largely exceeding recommended thresholds. The most critical growth was observed for the most severe patients, as mean waiting time for yellow and red admissions peaked at 81 (+100%) and 39 (+290%) minutes (m) in 2024, respectively. The mean process time also substantially increased in post-pandemic years, especially for yellow (from 300 m to 476 m) and red codes (from 330 m to 607 m). The trend was similar for both genders, in all age-classes, and higher in larger hospitals. Multivariable analyses confirmed a significant increase in ED time over the years. Conclusions: These findings indicate critical organizational and clinical issues in the regional emergency care system, requiring immediate action. The Regional Healthcare System recently tried to reduce ED overcrowding with specific plans, the impact of which requires urgent evaluation.