One year of the COVID-19 pandemic in Poland-the incidence of osteoporotic forearm, arm, and hip fractures.

The study attempts to analyse whether the COVID-19 pandemic affected the incidence of forearm, arm, and hip fractures during a 1-year observation period. Additionally, changes in the overall treatment costs of those fractures were estimated. During the COVID-19 pandemic, the incidence of forearm, arm, and hip fractures remained statistically unchanged, neither were any significant changes observed in the expenditure, incurred for the treatment of the fracture cases. PURPOSE: The purpose of the study was to find out and evaluate if the consequences of COVID-19 pandemic (including lockdown and the fear of infection) influenced the incidence of osteoporotic forearm, arm, and hip fractures and to estimate the changes in the costs of their management during one-year observation period. METHODS: The incidence of forearm, arm, and hip fractures was collected for the population, aged ≥ 50, residing at the district of Tarnowskie Góry and the Town of Piekary Slaskie, Poland, during 1 year of COVID-19 pandemic (from March 16th 2020 to March 15th 2021). The obtained results were compared with the number of corresponding limb fractures, recorded before the pandemic during five consecutive yearly periods, each starting from 16th March and ending on the 15th March of a subsequent year, the entire period covering the years 2015-2020. The rates of the analysed fractures were calculated per 100,000 inhabitants together with their economic impact. RESULTS: The mean numbers and the incidence rates of upper extremity fractures were slightly lower during the COVID-19 pandemic than in the previous 5 years, whereas hip fracture figures remained almost stable. The observed changes were not statistically significant. That annual observation revealed a slight decrease in expenditure volumes, when compared to the analysed period before the pandemic (-0.33%). CONCLUSION: The decreased incidence rate of forearm, arm, and hip fractures, observed during the first months of the COVID-19 pandemic, was not statistically significant in the 1-year observation. After several weeks/months under the shock, caused by government limitations and the fear of infection, the number of patients remained unchanged during the one-year observation.

Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.

BACKGROUND: Vesicoureteral reflux (VUR) is a common, familial genitourinary disorder, and a major cause of pediatric urinary tract infection (UTI) and kidney failure. The genetic basis of VUR is not well understood. METHODS: A diagnostic analysis sought rare, pathogenic copy number variant (CNV) disorders among 1737 patients with VUR. A GWAS was performed in 1395 patients and 5366 controls, of European ancestry. RESULTS: Altogether, 3% of VUR patients harbored an undiagnosed rare CNV disorder, such as the 1q21.1, 16p11.2, 22q11.21, and triple X syndromes ((OR, 3.12; 95% CI, 2.10 to 4.54; P=6.35×10-8) The GWAS identified three study-wide significant and five suggestive loci with large effects (ORs, 1.41-6.9), containing canonical developmental genes expressed in the developing urinary tract (WDPCP, OTX1, BMP5, VANGL1, and WNT5A). In particular, 3.3% of VUR patients were homozygous for an intronic variant in WDPCP (rs13013890; OR, 3.65; 95% CI, 2.39 to 5.56; P=1.86×10-9). This locus was associated with multiple genitourinary phenotypes in the UK Biobank and eMERGE studies. Analysis of Wnt5a mutant mice confirmed the role of Wnt5a signaling in bladder and ureteric morphogenesis. CONCLUSIONS: These data demonstrate the genetic heterogeneity of VUR. Altogether, 6% of patients with VUR harbored a rare CNV or a common variant genotype conferring an OR >3. Identification of these genetic risk factors has multiple implications for clinical care and for analysis of outcomes in VUR.