Subclinical systolic dysfunction in genotype-positive phenotype-negative relatives of dilated cardiomyopathy patients: A systematic review and meta-analysis

The absence of left ventricular (LV) dilatation and systolic dysfunction, as assessed by LV ejection fraction (LVEF), in family members of genetically confirmed dilated cardiomyopathy (DCM) patients, carrying pathogenic (P) or likely pathogenic (LP) familial gene variants categorizes them as a subgroup called genotype-positive phenotype-negative (GEN+ PHEN−). Identifying GEN+ PHEN− who are at the highest risk of developing the disease throughout their lifetime is crucial

Pituitary function and morphology in Fabry disease.

Endocrine abnormalities are known to affect patients with Fabry disease (FD). Pituitary gland theoretically represents an ideal target for FD because of high vascularization and low proliferation rate. We explored pituitary morphology and function in a cohort of FD patients through a prospectic, monocentric study at an Academic Tertiary Center. The study population included 28 FD patients and 42 sex and age-matched normal subjects. The protocol included a contrast enhancement pituitary MRI, the assessment of pituitary hormones, anti-pituitary, and anti-hypothalamus antibodies. At pituitary MRI, an empty sella was found in 11 (39%) FD patients, and in 2 (5%) controls (p < 0.001). Pituitary volume was significantly smaller in FD than in controls (p < 0.001). Determinants of pituitary volume were age and alpha-galactosidase enzyme activity. Both parameters resulted independently correlated at multivariate analysis. Pituitary function was substantially preserved in FD patients. Empty sella is a common finding in patients with FD. The major prevalence in the elderly supports the hypothesis of a progressive pituitary shrinkage overtime. Pituitary function seems not to be impaired in FD. An endocrine workup with pituitary hormone assessment should be periodically performed in FD patients, who are already at risk of cardiovascular complications

Dialogo tra Didattica della Matematica e Didattica Generale: problemi e sinergie

The didactic action is an holistic process in which general didactic (GD) and disciplinary didactic (DD) interact. But, how are they related? Two different modes occurred in the past: distinguishing between knowledge and education or removing one of the poles. This work attempts to overcome these two opposite solutions. The two discipline, GD and DD, impact on the same didactic action and each of them acts on the same aspects, although with different perspective. This synergy allows a plural analysis otherwise flawed. In order to gather problems and synergies of a plural analysis, this work analyses a research project, concerning a math teaching sequence for Primary School pupils, which involved researchers of the two disciplinary areas (GD and DD).L’azione didattica è un processo olistico in cui interagiscono la didattica generale (DG) e le didattiche disciplinari (DD). Ma come si relazionano? Nel passato sono emersi due modelli: separando l’intervento tra saperi ed educazioni o eliminando uno dei due poli.Il lavoro che presentiamo cerca di superare i due opposti modelli. Le due discipline, DG e DD, impattano sulla stessa azione didattica e ciascuna interviene su tutti gli aspetti, ma con prospettive differenti. Tale sinergia permette un’analisi plurale che altrimenti sarebbe zoppa. Per cogliere i problemi e le sinergie di un’analisi plurale, il contributo analizza la ricerca relativa a un percorso di didattica della matematica per la Scuola Primaria al cui sviluppo hanno partecipato ricercatori dei due settori disciplinari

Case report: Sodium-glucose cotransporter 2 inhibitors induce left ventricular reverse remodeling in anthracycline-related cardiac dysfunction—a case series

PurposeTo describe the efficacy and safety of sodium-glucose cotransporter 2 inhibitors as a specific treatment for anthracycline-related cardiac dysfunction in a small real-world population.MethodsSeven patients with anthracycline-related cardiac dysfunction were clinically and echocardiographically evaluated before and after the introduction of sodium-glucose cotransporter 2 inhibitors.ResultsAfter a median period of 24 weeks with uninterrupted sodium-glucose cotransporter 2 inhibitors treatment, a significant clinical improvement was observed with at least one New York Heart Association Functional Class (NHYA FC) improvement in all patients (median NYHA FC: I vs. III, p &lt; 0.010). A noteworthy left ventricular reserve remodeling (median left ventricular end diastolic volume indexed: 53 vs. 82.5 ml/m2, p = 0.018; median left ventricular ejection fraction: 50% vs. 40%, p = 0.17) was also observed. Sodium-glucose cotransporter 2 inhibitors therapy was well tolerated by every patients; no cases of discontinuation or relevant side effects were observed.ConclusionSodium-glucose cotransporter 2 inhibitors induce a significant clinical improvement and left ventricular reserve remodeling in patients affected by anthracycline-related cardiac dysfunction

Introduction to the papers of TWG 16: Learning mathematics with technology and other resources

This short contribution summarizes the results of TWG16 according to the five themes described in the Call for papers. As an overall conclusion, we notice that the somewhat general theme of good practices in technology-rich mathematics education attracts much attention, whereas the other themes apparently are addressed to a lesser extent in our research community, with the impact of digital technology on research methods as the most striking underrepresented example