African antelope diversity is a globally unique vestige of a much richer world-wide Pleistocene megafauna. Despite this, the evolutionary processes leading to the prolific radiation of African antelopes are not well understood. Here, we sequenced 145 whole genomes from both subspecies of the waterbuck (Kobus ellipsiprymnus), an African antelope believed to be in the process of speciation.
View Article and Find Full Text PDFBackground: Genome-wide association studies of COVID-19 severity have been carried out mostly on European or East Asian populations with small representation of other world regions. Here we explore the worldwide distribution and linkage disequilibrium (LD) patterns of genetic variants previously associated with COVID-19 severity.
Methods: We followed up the results of a large Spanish genome-wide meta-analysis on 26 populations from the 1000 Genomes Project by calculating allele frequencies and LD scores of the nine most significant SNPs.
Mental disorders are leading causes of disability and premature death worldwide, partly due to high comorbidity with cardiometabolic disorders. Reasons for this comorbidity are still poorly understood. We leverage nation-wide health records and near-complete genealogies of Denmark and Sweden (n = 17 million) to reveal the genetic and environmental contributions underlying the observed comorbidity between six mental disorders and 15 cardiometabolic disorders.
View Article and Find Full Text PDFMental disorders (MDs) are leading causes of disability and premature death worldwide, partly due to high comorbidity with cardiometabolic disorders (CMDs). Reasons for this comorbidity are still poorly understood. We leverage nation-wide health records and complete genealogies of Denmark and Sweden (n=17 million) to reveal the genetic and environmental contributions underlying the observed comorbidity between six MDs and 14 CMDs.
View Article and Find Full Text PDFThe observation of genetic correlations between disparate human traits has been interpreted as evidence of widespread pleiotropy. Here, we introduce cross-trait assortative mating (xAM) as an alternative explanation. We observe that xAM affects many phenotypes and that phenotypic cross-mate correlation estimates are strongly associated with genetic correlation estimates (=74%).
View Article and Find Full Text PDFPurpose: To evaluate the role of low intra-abdominal pressure (IAP) in improving postoperative recovery in Robotic-assisted radical cystectomy (RARC) and intracorporeal ileal conduit urinary diversion (ICUD).
Methods: A retrospective case-control study of 49 bladder cancer patients offered RARC/ICUD with standard (12 mmHg, n = 24) or low IAP (8 mmHg, n = 25). Outcomes of interest included length of procedure (LoP), estimated blood loss (EBL), blood transfusion, margin positivity rates, time to first flatus (TtFF), time to first bowel movement (TtFBM), ileus and small bowel obstruction (SBO) rates, time to safe discharge (TtSD), postoperative hospital stay (PHS) and pain levels on a postoperative day (POD) 1 and 3.
Genome-wide association studies (GWASs) have revolutionized human genetics, allowing researchers to identify thousands of disease-related genes and possible drug targets. However, case-control status does not account for the fact that not all controls may have lived through their period of risk for the disorder of interest. This can be quantified by examining the age-of-onset distribution and the age of the controls or the age of onset for cases.
View Article and Find Full Text PDFFor more than half a century, Denmark has maintained population-wide demographic, health care, and socioeconomic registers that provide detailed information on the interaction between all residents and the extensive national social services system. We leverage this resource to reconstruct the genealogy of the entire nation based on all individuals legally residing in Denmark since 1968. We cross-reference 6,691,426 individuals with nationwide health care registers to estimate heritability and genetic correlations of 10 broad diagnostic categories involving all major organs and systems.
View Article and Find Full Text PDFUreteric injuries from blunt trauma are rare in adults requiring prompt diagnosis and management. To our knowledge this is the second case report of a complete transection of the ureter due to blunt injury at the pelvi-ureteric junction in an adult. Following a high-speed road traffic collision, a 26-year-old female with bilateral duplex kidneys was admitted with complete transection of the lower moiety of her right collecting system confirmed on computed tomography Urogram.
View Article and Find Full Text PDFThe area of the Spanish Pyrenees is particularly interesting for studying the demographic dynamics of European rural areas given its orography, the main traditional rural condition of its population and the reported higher patterns of consanguinity of the region. Previous genetic studies suggest a gradient of genetic continuity of the area in the West to East axis. However, it has been shown that micro-population substructure can be detected when considering high-quality NGS data and using spatial explicit methods.
View Article and Find Full Text PDFObjectives: The objective of our study was to study trainees' feedback and rating of models for training transurethral resection of bladder lesions (TURBT) and prostate (TURP) during simulation.
Methods: The study was performed during the ''Transurethral resection (TUR) module" at the boot camp held in 2019. Prior to the course, all trainees were required to evaluate their experience in performing TURBT and TURP procedures.
Objectives: To present the three-year experience of the multi-component TURP module at Urology Simulation Bootcamp Course (USBC) and demonstrate trainee's competence progression and satisfaction.
Methods: During the USBC, a 4-h TURP module was developed and consisted of (a) familiarisation and assembly of resectoscope instrument, (b) didactic lecture on TURP operative techniques and postoperative complications, (c) learning hands-on resection on validated simulators [Samed, GmBH, Dresden, Germany; TURP Mentor™, Simbionix, Israel], and (d) practicing clot evacuation using the Ellik bladder Evacuator. Trainee's level of instrument knowledge, operative competence, and confidence were assessed pre- and post-course.
European populations display low genetic differentiation as the result of long-term blending of their ancient founding ancestries. However, it is unclear how the combination of ancient ancestries related to early foragers, Neolithic farmers, and Bronze Age nomadic pastoralists can explain the distribution of genetic variation across Europe. Populations in natural crossroads like the Italian peninsula are expected to recapitulate the continental diversity, but have been systematically understudied.
View Article and Find Full Text PDFUnlabelled: Characteristics of patients starting oral bisphosphonate therapy changed over time, reflecting trends in osteoporosis management (e.g., new drugs to market), and general healthcare delivery (e.
View Article and Find Full Text PDFBackground: Urological training has dramatically changed in recent years. Training durations are shorter and a drive toward consultant led care has reduced trainees experience. Within the UK, approximately 50 registrars annually embark on a 5-year Urology training programme, with variable levels of basic urological experience.
View Article and Find Full Text PDFRecent studies suggest that closely related species can accumulate substantial genetic and phenotypic differences despite ongoing gene flow, thus challenging traditional ideas regarding the genetics of speciation. Baboons (genus ) are Old World monkeys consisting of six readily distinguishable species. Baboon species hybridize in the wild, and prior data imply a complex history of differentiation and introgression.
View Article and Find Full Text PDFPoroma is a rare benign neoplasm that derives from eccrine sweat glands epithelium. Its histological subtypes, with respect to its position within skin layers, are eccrine poroma, hidroacanthoma simplex, poroid hidradenoma, and dermal duct tumor. Poromas commonly exhibit benign clinical behavior as they are usually small and asymptomatic and do not exhibit malignant behavior.
View Article and Find Full Text PDFSurg Laparosc Endosc Percutan Tech
June 2017
Aim: To scrutinize the rapid development of robotic versus traditional laparoscopic technique in pelvic urologic surgery.
Introduction: In the last few decades, advances in research and development have led to tremendous progress in medical diagnostics and treatment of disease. Minimally invasive surgery has moved from experimental to becoming the dominant form of surgical management across the surgical specialties.