From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review.

Despite rapid advances in genomic sequencing, most rare genetic variants remain insufficiently characterized for clinical use, limiting the potential of personalized medicine. When classifying whether a variant is pathogenic, clinical labs adhere to diagnostic guidelines that comprehensively evaluate many forms of evidence including case data, computational predictions, and functional screening. While a substantial amount of clinical evidence has been developed for these variants, the majority cannot be definitively classified as 'pathogenic' or 'benign', and thus persist as 'Variants of Uncertain Significance' (VUS).

Robot-assisted laparoscopic continent cutaneous urinary diversion in adults: A single-centre study.

Objectives: To show that robot-assisted laparoscopic cutaneous continent urinary diversion (RALCCUD) is feasible and safe; however, data on clinical outcomes in adults are lacking.

Materials And Methods: We conducted a retrospective study of all adults who underwent RALCCUD between 2017 and 2022 at a single tertiary reference centre.Patient characteristics, clinical information and perioperative outcomes were recorded.

Longitudinal determination of seroprevalence and immune response to SARS-CoV-2 in a population of food and retail workers through decentralized testing and transformation of ELISA datasets.

Background: Since the onset of the global COVID-19 pandemic in early 2020, numerous studies have been conducted worldwide to understand our immune response to the virus and to vaccination. This study investigates the humoral response elicited by SARS-CoV-2 infection and by vaccination in the poorly studied population of food and retail workers. These occupations were classified as essential by the Public Health Agency of Canada, potentially placing this population at greater risk of infection.

Safety and Efficacy of Radiosynoviorthesis: A Prospective Canadian Multicenter Study.

Radiosynoviorthesis is approved in several European countries and the United States to treat refractory synovitis in many inflammatory joint diseases, such as rheumatoid arthritis, spondyloarthropathies, and other arthritic joint diseases. No radiopharmaceuticals for radiosynoviorthesis are currently approved in Canada. The aim of this Health Canada-approved trial was to demonstrate the safety and efficacy of radiosynoviorthesis.

Induction and maintenance of sequential intravesical gemcitabine/docetaxel for intermediate and high-risk non-muscle invasive bladder cancer with different dosage protocols.

Introduction: The combination of sequential intravesical gemcitabine and docetaxel (Gem/Doce) chemotherapy has been considered a feasible option for BCG (Bacillus Calmette-Guérin) treatment in non-muscle invasive bladder cancer (NMIBC), gaining popularity during BCG shortage period. We seek to determine the efficacy of the treatment by comparing Gem/Doce induction alone vs induction with maintenance, and to evaluate the treatment outcomes of two different dosage protocols.

Methods: A bi-center retrospective analysis of consecutive patients treated with Gem/Doce for NMIBC between 2018 and 2023 was performed.

Thromboembolic Events After Robotic Radical Cystectomy: A Comparative Analysis of Extended and Limited Prophylaxis.

Objective: To compare limited (only inpatient) venous thromboembolism (VTE) prophylaxis after robot-assisted radical cystectomy (RARC) to limited plus extended prophylaxis. There is little consensus on postoperative VTE prophylaxis regimens after RARC with data mostly extrapolated from other cancers.

Methods: Retrospective review of all RARC patients at our center between 2014-2022, identifying two groups: patients after a prospectively implemented protocol (January 2018 to present) utilizing a prolonged 21-day postoperative course of either enoxaparin 40 mg daily or apixaban 2.

Robotic-assisted radical cystectomy with cutaneous ureterostomies: a contemporary multicenter analysis.

Background: Robotic-assisted radical cystectomy (RARC) offers decreased blood loss during surgery, shorter hospital length of stay, and lower risk for thromboembolic events without hindering oncological outcomes. Cutaneous ureterostomies (UCS) are a seldom utilized diversion that can be a suitable alternative for a selected group of patients with competing co-morbidities and limited life expectancy.

Objective: To describe operative and perioperative characteristics as well as oncological outcomes for patients that underwent RARC + UCS.

Bicentric retrospective study comparing the postoperative outcomes of patients treated surgically for bladder stones with or without concomitant surgery for BPH.

Purpose: To compare the postoperative outcomes of male patients who underwent bladder stone (BS) removal, with or without concomitant benign prostatic hyperplasia (BPH) surgery.

Patients And Methods: All men aged > 50 years who underwent BS removal at two French university hospitals between 2009 and 2018 were retrospectively reviewed. Four binary outcome criteria were identified during the follow-up: early postoperative complications, stone recurrence, subsequent surgery for BS or BPH, and late surgical complications.

Contemporary outcomes of patients undergoing robotic-assisted radical cystectomy: A comparative analysis between intracorporeal ileal conduit and neobladder urinary diversions.

Objective: We aimed to compare perioperative and oncologic outcomes for patients undergoing robotic-assisted radical cystectomy (RARC) with intracorporeal ileal conduit (IC) and neobladder (NB) urinary diversion.

Methods: Patients undergoing RARC with intracorporeal urinary diversion between January 2017 and January 2022 at the Icahn School of Medicine at Mount Sinai, New York, NY, USA were indexed. Baseline demographics, clinical characteristics, perioperative, and oncologic outcomes were analyzed.

Infections After Adoption of Antibiogram-directed Prophylaxis and Intracorporeal Urinary Diversion for Robot-assisted Radical Cystectomy.

Background: Enhanced recovery after surgery (ERAS) has significantly decreased the morbidity associated with radical cystectomy. However, infectious complications including sepsis, urinary tract (UTIs), wound (WIs), and intra-abdominal (AIs) infections remain common.

Objective: To assess whether intracorporeal urinary diversion (ICUD) and antibiogram-directed antimicrobial prophylaxis would decrease infections after robotic-assisted radical cystectomy (RARC).

Outcomes from a prospectively implemented protocol using apixaban after robot-assisted radical cystectomy.

Objectives: To compare the safety and efficacy of oral apixaban with that of injectable enoxaparin after robot-assisted radical cystectomy (RARC) for venous thromboembolism (VTE) thromboprophylaxis.

Materials And Methods: We conducted a retrospective review of prospectively collected data for all RARC patients treated at our tertiary care centre between 2018 and 2022. The study included two groups: patients who were subject to a prospectively implemented protocol from October 2021 to the present, comprising a 21-day postoperative course of apixaban 2.

[Surgical outcomes and complications following third kidney transplantation].

Background: After two consecutive kidney transplant failures, a third kidney transplantation improves survival for patients on the waiting list. The surgical outcomes and complications of third kidney transplantations remain poorly known.

Methods: We analyzed the last 100 third kidney transplantations performed in our center between January 2000 and August 2018.

PGC-1s shape epidermal physiology by modulating keratinocyte proliferation and terminal differentiation.

Skin plays central roles in systemic physiology, and it undergoes significant functional changes during aging. Members of the peroxisome proliferator-activated receptor-gamma coactivator (PGC-1) family (PGC-1s) are key regulators of the biology of numerous tissues, yet we know very little about their impact on skin functions. Global gene expression profiling and gene silencing in keratinocytes uncovered that PGC-1s control the expression of metabolic genes as well as that of terminal differentiation programs.

Development of a predictive model for recurrence-free survival in pTa low-grade bladder cancer.

Background: Data on Ta low-grade (LG) non-muscle invasive bladder cancer (NMIBC) have shown that follow-up cystoscopies are normal in 82% and 67% of patients with single and multiple tumors, respectively.

Objective: To develop a predictive model associated with recurrence-free survival (RFS) at 6, 12, 18 and 24 months in TaLG cases that consider the patients' risk aversion.

Materials And Methods: Data from a prospectively maintained database of 202 newly diagnosed TaLG NMIBC patients treated at Scandinavian institutions were used for the analysis.

Assessment of the longitudinal humoral response in non-hospitalized SARS-CoV-2-positive individuals at decentralized sites: Outcomes and concordance.

Introduction: Early in the COVID-19 pandemic, reagent availability was not uniform, and infrastructure had to be urgently adapted to undertake COVID-19 surveillance.

Methods: Before the validation of centralized testing, two enzyme-linked immunosorbent assays (ELISA) were established independently at two decentralized sites using different reagents and instrumentation. We compared the results of these assays to assess the longitudinal humoral response of SARS-CoV-2-positive (i.

Robotic post-chemotherapy retroperitoneal lymph node dissection for testicular cancer: A multicenter collaborative study.

Objectives: To evaluate the perioperative and oncological/functional outcomes of robotic post-chemotherapy retroperitoneal lymph node dissection for testicular cancer.

Methods And Materials: In this retrospective study, we included patients who underwent robotic post-chemotherapy retroperitoneal lymph node dissection at 7 academic centers between 2011 and 2021. Patients' characteristics, perioperative findings, as well as oncological and functional outcomes are reviewed.

Detailed Description of the Karolinska Technique for Intracorporeal Studer Neobladder Reconstruction.

In the last two decades, surgical techniques for intracorporeal urinary diversion have been developed with the aim of reducing surgical morbidity. Although increasing constantly, the numbers of urologists offering intracorporeal neobladder reconstruction remain limited due to the complex nature of the procedure. In this article, we aim to provide a detailed description of the surgical technique we currently use at our institution.

Neobladder creation in patients with chronic kidney disease: A viable diversion strategy.

Introduction: Renal function impairment is often cited as a contraindication to continent diversion strategies. There is little evidence exploring renal function changes between continent and incontinent surgery in patients with preoperative chronic kidney disease (CKD), in particular CKD3B.

Methods: This was a retrospective review of two high-volume centers performing robotic assisted radical cystectomy (RARC) with orthotopic neobladder (ONB) or ileal conduit (IC) between 2014 to 2020.

Functional and Oncological Outcomes of Female Pelvic Organ-preserving Robot-assisted Radical Cystectomy.

Background: For females undergoing cystectomy and urinary diversion, decreases in sexual and urinary functions can have a significant impact on quality of life. Pelvic organ-preserving (POP) radical cystectomy (RC) has been proposed as an approach to improve postoperative functional outcomes.

Objective: To evaluate postoperative functional outcomes of a robotic approach for female POP RC with intracorporeal urinary diversion.

Tumor Heterogeneity and Consequences for Bladder Cancer Treatment.

Acquired therapeutic resistance remains a major challenge in cancer management and associates with poor oncological outcomes in most solid tumor types. A major contributor is tumor heterogeneity (TH) which can be influenced by the stromal; immune and epithelial tumor compartments. We hypothesize that heterogeneity in tumor epithelial subpopulations-whether de novo or newly acquired-closely regulate the clinical course of bladder cancer.

Cross-reactivity of antibodies from non-hospitalized COVID-19 positive individuals against the native, B.1.351, B.1.617.2, and P.1 SARS-CoV-2 spike proteins.

SARS-CoV-2 variants of concern (VOCs) have emerged worldwide, with implications on the spread of the pandemic. Characterizing the cross-reactivity of antibodies against these VOCs is necessary to understand the humoral response of non-hospitalized individuals previously infected with SARS-CoV-2, a population that remains understudied. Thirty-two SARS-CoV-2-positive (PCR-confirmed) and non-hospitalized Canadian adults were enrolled 14-21 days post-diagnosis in 2020, before the emergence of the B.

The regional effect of serum hormone levels on cerebral blood flow in healthy nonpregnant women.

Sex hormones estrogen (EST) and progesterone (PROG) have received increased attention for their important physiological action outside of reproduction. While studies have shown that EST and PROG have significant impacts on brain function, their impact on the cerebrovascular system in humans remains largely unknown. To address this, we used a multi-modal magnetic resonance imaging (MRI) approach to investigate the link between serum hormones in the follicular phase and luteal phase of the menstrual cycle (MC) with measures of cerebrovascular function (cerebral blood flow [CBF]) and structure (intracranial artery diameter).