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Background: The advent of CFTR modulators highlighted that the sweat test (ST) for CF can be used also as an outcome measure for the basic defect of CFTR. Despite the technological advances, ST still remains operator-dependent and its execution should be strongly paired with guidelines. In 2022, due to the advent of CFTR modulators, the Italian CF Society introduced a specific ST report. The aim of the present paper is to discuss the impact of this new report in the 2022-23 round of the Italian External Quality Assessment program for ST (I-EQA-SCT). Methods: The scheme of the I-EQA-SCT is prospective, enrolment is voluntary, the payment of a fee is required and results are shared through a web-facility. Assessment covers analysis, interpretation, and reporting of results. In the 2022-23 round, 2 out of the 3 mock clinical information referred to patients who started modulators. Results: Fourteen laboratories completed the 2022-23 I-EQA-SCT round. Three of them failed in the interpretation of results from these two mock cases and/or used a wrong report not consistent with the more recent Italian Sweat Test Recommendations. Conclusions: The overall results obtained from the laboratories involved in the I-EQA-SCT program clearly showed that the laboratories’ qualitative and quantitative performance improved significantly. Results emerged from this round highlighted an issue in the report form used for monitoring patients on CFTR modulator therapy thus stressing the importance of these programs in improving both the performance of lab services and ameliorating the sweat test recommendations.

IntroductionIn hospitalized patients with COVID-19, bloodstream infections (BSI) are associated with high mortality and high antibiotic resistance rates. The aim of this study was to describe BSI etiology, antimicrobial resistance profile and risk factors in a sample of patients deceased with COVID-19 from the Italian National COVID-19 surveillance.MethodsHospital charts of patients who developed BSI during hospitalization were reviewed to describe the causative microorganisms and their antimicrobial susceptibility profiles. Risk factors were analyzed in univariate and multivariate analyses.ResultsThe study included 73 patients (71.2% male, median age 70): 40 of them (54.8%) received antibiotics and 30 (41.1%) systemic steroids within 48 h after admission; 53 (72.6%) were admitted to intensive care unit. Early steroid use was associated with a significantly shorter interval between admission and BSI occurrence. Among 107 isolated microorganisms, the most frequent were Enterococcus spp., Candida spp., Acinetobacter baumannii, and Klebsiella pneumoniae. Median time from admission to BSI was shorter for Staphylococcus aureus compared to all other bacteria (8 vs. 24 days, p = 0.003), and longer for Enterococcus spp., compared to all other bacteria (26 vs. 18 days, p = 0.009). Susceptibility tests showed a high rate of resistance, with 37.6% of the bacterial isolates resistant to key antibiotics. Resistance was associated with geographical area [adjusted odds ratio (AOR) for Central/South Italy compared to North Italy: 6.775, p = 0.002], and with early use of systemic steroids (AOR 6.971, p = 0.018).ConclusionsIn patients deceased with COVID-19, a large proportion of BSI are caused by antibiotic-resistant bacteria. Early steroid use may facilitate this occurrence.

A 50-year-old Caucasian man arrived at the emergency department presenting paucisymptomatic atrial fibrillation. Once discharged after the appropriate treatments, the patient continued to have paucisymptomatic episodes. For this reason, he was provided with the Cardionica device which made it possible to better investigate the type of arrhythmic episodes, in order to tailor his therapy and to finally restore a normal sinus rhythm in the patient.

There is an association between joint hypermobility, hypermobile Ehlers-Danlos syndrome (hEDS) and different forms of orthostatic intolerance. Objective: to explore autonomic profile in a large cohort of adults with hEDS and hypermobility spectrum disorder (hEDS/HSD) with a multimodal approach. In this observational retrospective study, heart rate, blood pressure and baroreflex sensitivity were estimated in 102 hEDS/HSD subjects during deep breathing, Valsalva maneuver, standing up: 30-15 ratio, Head-Up Tilt and sustained handgrip. Abnormal results and head-up tilt test were common and included postural orthostatic tachycardia syndrome (POTS; 48%), orthostatic intolerance (25.5%) and hypotension (3.9%). Baroreflex sensitivity was significantly different in individuals with POTS compared to the others. This study confirms the high rate and heterogeneity of abnormal autonomic regulation in hEDS/HSD, and suggests the baroreflex sensitivity might distinguish comorbid POTS from other profiles in this subgroup of patients. Abnormal autonomic regulation is common in adults with hEDS/HSD and should be regularly assessed for tailoring the management approach.

INTRODUCTION: The current external monitoring strategies used to detect atrial fibrillation (AF) and atrial tachycardia (AT) episodes are based either on transient periods of short-term ECG recordings or on infrequent period of long-term continuous monitoring. The aim of this study was to investigate the ability of short-term daily ECG monitoring strategies for the detection of AF events. METHODS AND MATERIALS: The investigation was based on simulations performed on data extracted from Burden II study (patients implanted with pacemaker for brady-tachy syndrome), reporting date, time and duration of each episodes. RESULTS AND CONCLUSIONS: We found that a short-term daily temporally-optimized ECG monitoring allows to detect a higher percentage of episodes than 1-day Holter monitoring and to be at least as effective as a 7-days monitoring.

BACKGROUND: Principal component analysis (PCA) of the T-wave has been demonstrated to quantify the dipolar and not-dipolar components of the ventricular activation, the latter reflecting repolarization heterogeneity. Accordingly, the PCA of the P-wave could help in analyzing the heterogeneous propagation of sinus impulses in the atria, which seems to predispose to fibrillation. AIM: The aim of this study is to perform the PCA of the P-wave in patients prone to atrial fibrillation (AF). METHODS: PCA is performed on P-waves extracted by averaging technique from ECG recordings acquired using a 32-lead mapping system (2048 Hz, 24 bit, 0-400 Hz bandwidth). We extracted PCA parameters related to the dipolar and not dipolar components of the P-wave using the first 3 eigenvalues and the cumulative percent of variance explained by the first 3 PCs (explained variance EV). RESULTS AND CONCLUSIONS: We found that the EV associated to the low risk patients is higher than that associated to the high risk patients, and that, correspondingly, the first eigenvalue is significantly lower while the second one is significantly higher in the high risk patients respect to the low risk group. Factor loadings showed that on average all leads contribute to the first principal component.

The aim of this study was to assess the effect of filtering techniques on the time-domain analysis of the ECG. Multi-lead ECG recordings obtained from chronic atrial fibrillation (AF) patients after successful external cardioversion have been acquired. Several high-pass filtering techniques and three cut-off frequency values were used: Bessel and Butterworth four-pole and two-pole bidirectional and unidirectional filters, at 0.01, 0.05 and 0.5 Hz low cut-off frequency. As a reference, a beat-by-beat linear piecewise interpolation was used to remove baseline wander, on each P-wave. Results show that ECG filtering affects the estimation of P-wave duration in a manner that depends upon the type of filter used: particularly, the bidirectional filters caused negligible variation of P-wave duration, while unidirectional ones provoked an increase higher than 8%.

Recent evidence suggested that muscle degeneration might lead and/or contribute to neurodegeneration, thus it possibly play a key role in the etiopathogenesis and progression of amyotrophic lateral sclerosis (ALS). To test this hypothesis, this study attempted to categorize functionally relevant genes within the genome-wide expression profile of human ALS skeletal muscle, using microarray technology and gene regulatory network analysis. The correlation network structures significantly change between patients and controls, indicating an increased inter-gene connection in patients compared to controls. The gene network observed in the ALS group seems to reflect the perturbation of muscle homeostasis and metabolic balance occurring in affected individuals. In particular, the network observed in the ALS muscles includes genes (PRKR1A, FOXO1, TRIM32, ACTN3, among others), whose functions connect the sarcomere integrity to mitochondrial oxidative metabolism. Overall, the analytical approach used in this study offer the possibility to observe higher levels of correlation (i.e. common expression trends) among genes, whose function seems to be aberrantly activated during the progression of muscle atrophy.

Atrial fibrillation (AF), the most common cardiac arrhythmia, is associated with extensive structural, contractile, and electrophysiological remodeling. In this manuscript we re-analyzed gene expression data from a microarray experiment on AF patients and control tissues, using a new paradigm based on a posteriori unsupervised strategy in which the discrimination of patients comes out from purely syntactical premises. This paradigm, more adherent to biological reality where genes work in highly connected networks, allowed us to get both a very precise patients/control discrimination and the discovery of cell adhesion/tissue modeling and inflammation processes as the main dimensions of AF.

Although the paradigm of the 4P medicine - Predictive, Personalized, Preemptive, and Participatory - has been suggested several years ago, its application to atrial fibrillation is still far away. Given the increasing prevalence and incidence of this pathology it is the time to promote preventive strategies, by identifying the risk factors associated to life style and by incentivizing innovative diagnostic technologies. The promotion of the correct life style and of the use of diagnostic devices based on innovative and reliable technologies, represent a first step towards the full realization of the revolution of 4P medicine in atrial fibrillation.