Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals. This integrated data set of common and rare alleles, called ‘HapMap 3’, includes both SNPs and copy number polymorphisms (CNPs). We characterized population-specific differences among low-frequency variants, measured the improvement in imputation accuracy afforded by the larger reference panel, especially in imputing SNPs with a minor allele frequency of ≤5%, and demonstrated the feasibility of imputing newly discovered CNPs and SNPs. This expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.

Using crossover balloon inflation as an adjunct to Prostar closure may be helpful for managing TAVI vascular access sites.

BK and JC polyomaviruses (BKV and JCV) are widespread in humans and are thought to persist and reactivate under immune alterations. In addition to the kidney, lymphoid cells have been proposed as a site of latency. However, while this was shown to occur in immunocompromised patients, discordant data were published for healthy humans. To help to solve this issue, an extensive study (231 healthy subjects) was carried out on peripheral blood mononuclear cells (PBMC) from blood donors of two towns and from operators of a blood transfusion centre. To discriminate between past and recent infection, nested PCRs for BKV and JCV non-coding control region (NCCR) and VP1 DNA sequences were carried out. Twenty-two per cent of subjects had BKV NCCR, but only 7 % also had BKV VP1, as detected by PCR assays of similar sensitivities ; the latter positivity was found to decrease with age. In both towns, the BKV WW archetypal DDP strain, subtype I, was found. Only 0n9 % of subjects contained JCV DNA, for both NCCR and VP1. Blood operators presented a statistically significant increased prevalence of BKV NCCR (3n0-fold) and BKV VP1 (9n4-fold) sequences with respect to blood donors of comparable ages, suggesting the possibility of occupational risk of BKV (re)infection or reactivation. Since the possibility of amplifying BKV VP1 sequences from PBMC of healthy humans is lost with age, this suggests that PBMC are not a site of polyomavirus persistence in healthy individuals and that detection of BKV VP1 DNA in PBMC is probably indicative of recent infection or reactivation.

Introduction: The Pandemic caused by the SARS-CoV-2 has put a strain on the most of health systems all over the world. Many hospitals had to re-organize to deal with the emergency, so that the non-core activities have been suspended or cancelled, raising management problems. The aim of this multicentre study is to report the epidemiological orthopaedic and traumatological data between COVID and pre-COVID era and to analyse patients' needs and their management. Methods: We reported and compared traumatological and elective orthopaedic surgeries performed in three of the main hospital centres in Tuscany during COVID (March 2020) and pre-COVID (March 2019) era. We also reported the epidemiological data about the number of orthopaedic first aid visits at the main hub, analysing the main differences. For each centre, we reported the number, diagnosis, comorbidities, treatment, hospital course, complications and outcomes of confirmed COVID 19 patients. We also indicated what kind of PPE were used by medical staff and patients at any visit. Results: The scheduled surgery drastically decreased in all the centres and the most of procedures were carried out for tumours, infections and implant mobilizations during the COVID time, delaying all the other ones. Trauma activities slightly decreased between the two time points: proximal femur fractures continued to engage our hospitals at the same pre-COVID volumes, while minor traumas drastically decreased. We report a decrease of 70.95% in orthopaedic first aid, with first-aid-visits/hospitalization ratio of 13.8 in the pre-COVID time vs 5.8 in the COVID time. A total of 5 confirmed COVID patients were treated for fractures and 4 of them healed without complications. We report just one case of death among COVID patients. All the medical staff members have worn the PPE and no one have developed COVID symptoms. Conclusions: The COVID-19 raised many important issues, such as the optimal management of patients requiring the treatment of conventional diseases during a pandemic. The flow of patients changes from one area to another during a pandemic and an integrated approach within the same geographical area could be useful to better allocate resources and manage the patients' needs. The preventive measures put in place in our country seem to work, but this first experience with COVID-19 crisis highlighted the chronic problems of our health system and we believe that we have to "learn the lesson" to be better prepared in the future.

Several cross-sectional studies have reported a positive correlation between muscle strength and local bone mineral density. However, very few studies have evaluated the possible role of confounding variables, which may be substantial as both bone mineral density and muscle strength are multifactorial variables. We studied 140 postmenopausal women who underwent their first osteodensitometry in our hospital. Of these, 102 women affected neither by bone diseases apart from primary osteoporosis nor treated with drugs affecting bone mass were selected. Distal radius bone mineral density of the non-dominant arm was assessed by dual photon absorptiometry. Handgrip strength was measured by a handheld dynamometer. The following factors influencing bone mass were also considered: age, years since menopause, years of cyclic ovarian activity, body weight, body height, body mass index, and both calcium and alcohol dietary intake. Statistical evaluation was performed by stepwise multiple regression analysis. This showed that only two variables were independently related to bone mineral density: handgrip strength (which was the best bone density predictor among the studied independent variables) and years since menopause. R2 value was 0.43 (F=38.04, p < 0.001). All the other variables studied were not significantly related to bone density when the effects of both strength and years since menopause were considered. In conclusion, the data showed that handgrip strength was a strong independent predictor of distal radius bone mineral density in postmenopausal women. Clinical assessment of osteoporosis risk factors, including muscle strength, is recommended: although it is not an adequate substitute for bone densitometry, it can help clinicians to identify the risk groups at which to direct bone density measurement.