ObjectiveTo carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA).Methods73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and muscle pathology.ResultsCreatine kinase levels were slightly to markedly elevated in almost all cases (68 of the 73; 94%). 30 (41%) patients had fasting glucose above the reference limit, and many patients had total cholesterol (40; 54.7%), low-density lipoproteins cholesterol (29; 39.7%) and triglyceride (35; 48%) levels above the recommended values. Although testosterone, luteinising hormone and follicle-stimulating hormone values were generally normal, in one-third of cases we calculated an increased Androgen Sensitivity Index reflecting the presence of androgen resistance in these patients. According to the International Prostate Symptom Score (IPSS), 7/70 (10%) patients reported severe lower urinal tract symptoms (IPSS score >19), and 21/73 (30%) patients were moderately symptomatic (IPSS score from 8 to 19). In addition, 3 patients were carriers of an indwelling bladder catheter. Videourodynamic evaluation indicated that 4 of the 7 patients reporting severe urinary symptoms had an overt prostate-unrelated bladder outlet obstruction. Dual-energy X-ray absorptiometry scan data were consistent with low bone mass in 25/61 (41%) patients. Low bone mass was more frequent at the femoral than at the lumbar level. Skeletal muscle biopsy was carried out in 20 patients and myogenic changes in addition to the neurogenic atrophy were mostly observed.ConclusionsOur study provides evidence of a wide non-neural clinical phenotype in SBMA, suggesting the need for comprehensive multidisciplinary protocols for these patients.

The negative results of our study prompt to continue the search for potential disease modifiers in SBMA outside the AR gene.

Background: COVID-19 is a strikingly emerging disease caused by a new coronavirus (SARS-CoV-2) that has rapidly spread across all continents and affecting virtually every country. From a clinical, epidemiological, political and financial perspective, COVID-19 pandemic is now recognized as one of the worst disasters in modern era. In the North of Italy, Bergamo has been the European equal to Chinese City of Wuhan in terms of epidemiological impact of COVID-19. The first case of SARS-Cov-2 infection in Bergamo has been reported in Alzano District General Hospital (DGH), part of ASST Bergamo-Est Multi Hospitals Network. ASST Bergamo-Est comprises four Hospitals serving more than 50% of Bergamo Province and with a patient catchment of 387000 inhabitants. Methods: We retrospectively analyze the challenges and actual impact of the SARS-CoV-2 pandemic on the hospital capacity and performance. Accordingly, we report the specific operational procedures and clinical governance implementation related to the transformation of our Institutions into “COVID-hospitals”. Results: From 1st of March to 20th of April, 4919 consecutive patients were assessed in ASST Bergamo-Est Hospitals as “COVID-Hospital” referral centre, of these 1412 patients were admitted with diagnosis of moderate to severe COVID-19 respiratory insufficiency. Most of patients were high-risk individuals with a median age of 69 years. In-hospital mortality rate was 33.1%. Specific performance improvements under the “COVID-19 Hospital model” capacity-expansion strategy were analysed. Conclusions: This paper informs on the experience of ASST Bergamo-Est Trust and the disaster-response strategy during the COVID-19 pandemic. The ASST Bergamo-Est data reported corroborates the recent call for action to Governments for promoting MCI improved management with focus on COVID-19 pandemic and its possible recurrence.