Studio longitudinale del coinvolgimento muscolare e cardiaco nella Distrofia Miotonica di tipo 1 (DM1) e di tipo 2 (DM2)

PREMESSE: Il grado di compromissione del sistema di conduzione cardiaco nella distrofia miotonica di tipo 2 (DM2) rispetto alla distrofia miotonica di tipo 1 (DM1) non è definito. OBIETTIVI: Valutare la frequenza e severità dei disturbi di conduzione nella DM2 rispetto alla DM1. METODI: E’ stato effettuato uno studio retrospettivo su 64 pazienti DM2 (56.6±12.8 anni) e 126 pazienti DM1 (46.8±12.3 anni) valutando: (i) bilancio muscolare (scala MRC); (ii)ECG; (iii)ECG Holter; (iv) Ecocardiogramma; (v) studio elettrofisiologico (SEF). RISULTATI: (i) 2/64 pazienti con DM2 vs 39/126 con DM1hanno presentato sincope. In 1 DM1 è stato l’esordio della malattia; (ii) E’ stato posizionato il PM in 2/62 DM2 vs 15/126 DM1; (iii) 1 famiglia su 38 DM2 vs 5 su 55 DM1 hanno storia familiare positiva per morte improvvisa; (iv) Nessun paziente con DM2 è stato sottoposto a SEF vs 4 pazienti con DM1. CONCLUSIONI: I dati del nostro studio suggeriscono che il rischio di aritmie maggiori nella DM2 è minore rispetto alla DM1. Tuttavia, le pur ancora rare segnalazioni in letteratura di disturbi di conduzione nella DM2, e le similitudini cliniche e patogenetiche tra la DM1 e la DM2, sottolineano la necessità di applicare un protocollo specifico per valutare il rischio aritmico anche nella DM2 come nella DM1

Echocardiographic alterations in patients with non-functioning adrenal incidentaloma

Objective: While left ventricular (LV) dysfunction has been described in patients with Cushing's syndrome (CS), data concerning morphologic and functional cardiac alterations in patients with incidentally discovered adrenal masses [adrenal "incidentaloma" (AI)], without overt hypercortisolism, are lacking. In this study the echocardiographic characteristics of patients with AI were evaluated and then compared with those of lean and obese normotensive subjects. Subjects and methods: Twenty-one patients with AI, without clinical or subclinical hypercortisolism, 18 normotensive obese subjects matched for gender and body mass index (BMI) and 20 normotensive lean subjects were studied. Echocardiography was performed in all subjects. In all patients plasma ACTH, serum cortisol, and DHEA-S levels were measured. Results: Patients with AI showed greater impairment of several echocardiographic indices of LV hypertrophy and diastolic dysfunction compared to normotensive lean subjects (p<0.05), but did not differ from those in obese subjects. Hypertensive AI patients showed a greater alteration of echocardiographic parameters (p<0.05) and higher BMI (p<0.01) and cortisol values (p<0.05) than normotensive ones. Plasma ACTH and serum cortisol were similar in AI patients and in obese controls, while DHEA-S levels were lower in AI (p<0.05). No correlations between cortisol secretion and echocardiographic parameters were found. Conclusion: In patients with non-functioning AI there is an impairment of cardiac morphology and function. These data suggest that patients with AI should be carefully screened also by means of echocardiographic studies

Lessons learnt: ophthalmology service organization, single-center experience from a COVID-19 highly affected area

Introduction: The COVID-19 contagion curve is steeply increasing again worldwide; however, this time we face the emergency with different knowledge.Areas covered: In this review article, we present international guidelines and updated literature merged with our experience from hospitals in Bergamo, the epicenter of the first European COVID-19 outbreak, and provide a protocol tailored for ophthalmology professionals for organizing ophthalmology services for the second-wave of COVID-19 pandemic, to satisfy ophthalmic care needs while minimizing viral spread. Results from this strategy are discussed. We have developed a protocol that can balance safety, costs and quality.Expert opinion: Re-shaping ophthalmology practice resulted in higher costs and longer working times, but this is necessary to ensure safety. Updating ophthalmology protocols should be a priority worldwide