UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SV.

Background: Interpreting the pathogenicity of genetic variants associated with rare diseases is a laborious and time-consuming endeavour. To streamline the diagnostic process and lighten the burden of variant interpretation, it is crucial to automate variant annotation and prioritization. Unfortunately, currently available variant interpretation tools lack a unified and comprehensive workflow that can collectively assess the clinical significance of these types of variants together: small nucleotide variants (SNVs), small insertions/deletions (INDELs), copy number variants (CNVs) and structural variants (SVs).

The physician payments Sunshine Act and medical oncology: a seven-year financial analysis.

The integration of pharmaceutical and medical device companies with clinical practice is under scrutiny due to financial incentives that may influence oncology care. The Physician Payments Sunshine Act mandates transparency in these financial relationships. This study examines the trends in non-research payments to oncology specialists between 2017 and 2023, analyzing amounts, reasons, and variations by subspecialty and region.

Simultaneous approach in tandem occlusion: a safe, effective, and faster way to achieve recanalization.

Background: Endovascular thrombectomy (EVT) is the standard of care for patients with acute ischemic stroke (AIS) and intracranial vessel occlusion. Tandem occlusions (TO) comprise 20% of all anterior circulation AIS and are related to a poorer prognosis. The optimal EVT treatment strategy remains controversial.

Thermal optimization of robotic piezoelectric osteotomy motion in porcine trabecular bone.

Background: Piezoelectric osteotomy represents a potentially viable alternative to conventional techniques for preparing pilot holes for bone screws. However, piezoelectric osteotomes have demonstrated the potential to heat bone beyond 47 °C, which induces necrosis that could contribute to screw loosening, resulting in osteosynthetic material failure and pseudarthrosis. Thus, we sought to determine the working movements of a piezoelectric drill that resulted in the lowest maximum bone temperatures while ensuring that this optimal drilling motion resulted in temperatures below 47 °C.

All-fiber passively Q-switched Tm-doped laser with a mode field area mismatched Tm-doped saturable absorber.

We demonstrate a high peak power, all-fiber passively Q-switched Tm-doped laser operating at 1940 nm for applications in soft tissue ablation. High peak power and passive Q-switching were achieved via a clad pumped gain fiber and a smaller core Tm-doped fiber saturable absorber respectively. Clad pumping was achieved via two 30 W diodes operating at 793 nm.

Temperature switchable linkers suitable for triggered drug release in cancer thermo-chemotherapy.

In drug delivery systems, a stimuli-responsive linker that attaches a targeting carrier and a cytotoxic payload can be dissociated to release the payload on the target over the action of a stimuli, thereby it would harden the selectivity, specificity and potency of the cytotoxic agent against targeted tissues whilst sparing the drug-induced toxicity on normal cells. Oligonucleotide duplexes can unwind and be separated into single-stranded random coils under a defined temperature, and this property makes the oligonucleotide an appealing thermo-responsive linker. In this work, we studied the melting temperatures of different DNA linkers with various lengths and mismatches inserted in the double helix with either different numbers or positions.

The Impact of Neuroanesthesia Fellowship Training and Anesthesiologist-Surgeon Dyad Volume on Patient Outcomes in Adult Spine Surgery: A Population-Based Study.

Introduction: Extensive research has explored the impact of surgeons' characteristics on patient outcomes; however, the influence of anesthesiologists remains understudied. We performed a population-based retrospective cohort study to investigate the impact of anesthesiologists' characteristics on in-hospital morbidity after spine surgery.

Methods: Adult patients who underwent spine surgery at the London Health Science Centre, Ontario, Canada between January 1, 2010 and June 30, 2023 were included in this study.

Characterizing the safety profile of vagus nerve stimulation devices for epilepsy from 21,448 manufacturer and user reports.

Objective: This study summarizes medical device reports (MDRs) associated with adverse events for vagus nerve stimulation (VNS) devices indicated for epilepsy as reported by the Manufacturer and User Facility Device Experience (MAUDE) database of the US Food and Drug Administration.

Methods: The MAUDE database was surveyed for MDRs from November 2013 to September 2022 regarding VNS devices for epilepsy. Event descriptions, device problems, correlated patient consequences, and device models were grouped and analyzed in Python.

Promising Response of Olaparib in Patient With Germline -Mutated Metastatic Gastric Cancer.

Gastric cancer ranks as the fifth leading cause of global cancer incidences, exhibiting varied prevalence influenced by geographical, ethnic, and lifestyle factors, as well as infection. The gene on chromosome 11q22 is vital for genomic stability as an initiator of the DNA damage response, and mutations in this gene have been associated with various cancers. Poly ADP-ribose polymerase (PARP) inhibitors, such as olaparib, have shown efficacy in cancers with homologous recombination repair deficiencies, notably in those with ATM mutations.

Opposing Motor Memories in the Direct and Indirect Pathways of the Basal Ganglia.

Loss of dopamine neurons causes motor deterioration in Parkinson's disease patients. We have previously reported that in addition to acute motor impairment, the impaired motor behavior is encoded into long-term memory in an experience-dependent and task-specific manner, a phenomenon we refer to as aberrant inhibitory motor learning. Although normal motor learning and aberrant inhibitory learning oppose each other and this is manifested in apparent motor performance, in the present study, we found that normal motor memory acquired prior to aberrant inhibitory learning remains preserved in the brain, suggesting the existence of independent storage.

Characterising polymyalgia rheumatica on whole-body F-FDG PET/CT: an atlas.

The impact of modern imaging in uncovering the underlying pathology of PMR cannot be understated. Long dismissed as an inflammatory syndrome with links to the large vessel vasculitis giant cell arteritis (GCA), a pathognomonic pattern of musculotendinous inflammation is now attributed to PMR and may be used to confirm its diagnosis. Among the available modalities, F-fluorodeoxyglucose (F-FDG) PET/CT is increasingly recognized for its high sensitivity and specificity, as well as added ability to detect concomitant large vessel GCA and exclude other relevant differentials like infection and malignancy.

Diagnosis and Management of Cerebral Venous Thrombosis: A Scientific Statement From the American Heart Association.

Cerebral venous thrombosis accounts for 0.5% to 3% of all strokes. The most vulnerable populations include young individuals, women of reproductive age, and patients with a prothrombotic state.

Carotid stenting for symptomatic carotid artery web: Multicenter experience.

Objective: Carotid artery webs are an underappreciated cause of recurrent ischemic stroke, and may represent a significant portion of cryptogenic stroke. Evidence-based guidelines for the management of symptomatic carotid webs do not exist. The goal of this study is to audit our local experience for patients with symptomatic carotid artery webs undergoing carotid stenting as a treatment option, along with describing the hypothesized dynamic physiology of carotid webs.

Intracranial stenting compared to medical treatment alone for intracranial atherosclerosis patients: An updated meta-analysis.

Objective: Stroke is the second-leading cause of death globally. Intracranial atherosclerotic stenosis (ICAS) represents 10-15% of ischemic strokes in Western countries and up to 47% in Asian countries. Patients with ICAS have an especially high risk of stroke recurrence.

Atraumatic Polycompartment Syndrome Secondary to Cardiogenic Shock: A Case Report.

We report the case of a 53-year-old male who developed polycompartment syndrome (PCS) secondary to cardiogenic shock. After suffering a cardiac arrest, a self-perpetuating cycle of intra-abdominal hypertension (IAH) and vital organ damage led to abdominal compartment syndrome (AbCS), which then contributed to the precipitation of extremity compartment syndrome (CS) in bilateral thighs, legs, forearms, and hands. This report is followed by a review of the literature regarding the pathophysiology of this rare sequela of cardiogenic shock.

The pedicle screw accuracy using a robotic system and measured by a novel three-dimensional method.

Robotics in medicine is associated with precision, accuracy, and replicability. Several robotic systems are used in spine surgery. They are all considered shared-control systems, providing "steady-hand" manipulation instruments.

JAK inhibitors and black box warnings: what is the future for JAK inhibitors?

Introduction: Janus kinase inhibitors (JAKi) have dramatically improved the treatment of various autoimmune and myeloproliferative disorders. Recently, concern has arisen regarding their safety in patients with rheumatoid arthritis.

Areas Covered: Here, we provide a comprehensive summary of the major current and emerging JAKi and their indications, address recent studies on comparative safety, and provide insight into their future and use.

Managing Cardiovascular and Cancer Risk Associated with JAK Inhibitors.

Janus kinase inhibitors (JAKi) have enormous appeal as immune-modulating therapies across many chronic inflammatory diseases, but recently this promise has been overshadowed by questions regarding associated cardiovascular and cancer risk emerging from the ORAL Surveillance phase 3b/4 post-marketing requirement randomized controlled trial. In that study of patients with rheumatoid arthritis with existing cardiovascular risk, tofacitinib, the first JAKi registered for chronic inflammatory disease, failed to meet non-inferiority thresholds when compared with tumor necrosis factor inhibitors for both incident major adverse cardiovascular events and incident cancer. While this result was unexpected by many, subsequently published observational data have also supported this finding.

Pearls and pitfalls of ChatGPT in medical oncology.

Recently, ChatGPT has drawn attention to the potential uses of artificial intelligence (AI) in academia. Here, we discuss how ChatGPT can be of value to medicine and medical oncology and the potential pitfalls that may be encountered.

Sex-based differences in safety and efficacy of catheter ablation for atrial fibrillation.

Background: Studies have identified significant sex-based differences and disparities in the clinical presentation and treatment of atrial fibrillation (AF). Studies have shown women are less likely to be referred for catheter ablation, are older at the time of ablation, and are more likely to have recurrence after ablation. However, in most studies investigating AF ablation outcomes, the female cohorts were relatively small.

Endovascular treatment for anterior inferior cerebellar artery-posterior inferior cerebellar artery (AICA-PICA) common trunk variant aneurysms: Technical note and literature review.

The Anterior Inferior Cerebellar Artery-Posterior Inferior Cerebellar Artery (AICA-PICA) common trunk is a rare variant of cerebral posterior circulation in which a single vessel originating from either the basilar or vertebral arteries supplies both cerebellum and brainstem territories. We present the first case of an unruptured right AICA-PICA aneurysm treated with flow diversion using a Shield-enhanced pipeline endovascular device (PED, VANTAGE Embolization Device with Shield Technology, Medtronic, Canada). We expand on this anatomic variant and review the relevant literature.