Citations

Abstract Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective The aim was to assess the frequency of dystonia‐linked pathogenic variants in PD. Methods We screened sequencing data from 15,684 individuals (8272 PD, 3200 atypical parkinsonism, and 4212 unaffected) from the Global Parkinson's Genetics Program (GP2) and Accelerating Medicines Partnership‐Parkinson's Disease (AMP‐PD) for variants in genes linked to isolated dystonia, dystonia‐parkinsonism, and myoclonus‐dystonia. Results Pathogenic variants were identified only in PD patients. Forty‐five PD individuals (0.54%) carried 26 distinct (likely) pathogenic variants in nine dystonia‐linked genes, most frequently in GCH1 , followed by VPS16 . Conclusion Though rare, pathogenic variants in dystonia‐linked genes are present in clinically and pathologically diagnosed PD. Our results reinforce GCH1 as a PD‐relevant gene with clinical implications, whereas variants identified in other genes are rare and of uncertain relation to the PD phenotype. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

ABSTRACT Introduction Chronic pouchitis is a major therapeutic challenge in patients with ulcerative colitis following ileal pouch‐anal anastomosis. Methods We conducted a real‐world, propensity‐matched cohort study of 856 patients from a healthcare database to compare ustekinumab and vedolizumab. Results Ustekinumab was associated with significantly lower relapse rates (aHR = 0.69; p < 0.001), longer time to relapse, reduced hospitalisation and decreased need for steroids or antibiotics. No differences were observed in surgery rates or therapy switching. Conclusion Our findings suggest that ustekinumab may offer advantages over vedolizumab in the management of chronic pouchitis.

Abstract Introduction Linear accelerators require a large amount of data to be collected daily, monthly and annually to verify safe deliveries for patients. Different detectors have been utilized to improve the simplicity, efficiency and accuracy of the various experimental setups required to collect the necessary data resulting in reduced data collection and evaluation time. Plastic scintillators are stable and energy independent radiation detectors with high spatial resolution that emit light proportional to the amount of radiation incident on them. With an appropriate photodetector and technique to measure and analyze the light that is emitted, scintillators can be utilized to measure dosimetric parameters necessary for various monthly quality assurance requirements. Methods A uniform cylindrical plastic scintillator imaged by a complementary metal oxide semiconductor (CMOS) camera is designed to act as a radiation detector to measure 2D projections of linear accelerator beams. Beams were delivered to the detector to evaluate machine quality assurance (QA) parameters, including beam energy, output, profile consistency and reproducibility as described by TG‐198. These measurements were compared to calculations from the Eclipse treatment planning system (TPS). Typical monthly quality assurance (QA) beams were delivered and 2D projections of the scintillation light were measured to validate the accuracy and reproducibility of this detector system for monthly QA. Results The plastic scintillator was able to accurately characterize the radiation beam. Energy and profile measurements were reproducible and within 2%/2mm of calculations in the TPS. Output measurements had maximum variations of up to 1.3% and average differences of 0.5%. Conclusion A simple cylindrical plastic scintillator and CMOS camera radiation detector setup was designed and tested for measuring monthly QA dosimetric parameters specified by TG‐198 with accurate and reproducible output, energy and profiles measurements. This method reduces the number of measurements required, allowing multiple parameters to be evaluated in a single beam delivery.

Atrial fibrillation (AF) is the most common cardiac arrhythmia and is associated with increased morbidity, mortality, and healthcare expenses. Meanwhile, effective management of AF requires a comprehensive, patient-centered approach that includes risk factor modification, rate and rhythm control strategies, and prevention of thromboembolic events. Multidisciplinary AF clinics have emerged as a model for comprehensive management to improve patient outcomes and reduce healthcare burden. This review discusses the rationale, structure, benefits, challenges, and future directions of multidisciplinary AF clinics, emphasizing their role in optimizing AF management.

OBJECTIVE Neurosurgeon scientists play a unique role in advancing neuroscience research. While previous publications have explored trends in federal and foundation funding among neurosurgeons, funding is often dominated by neurosurgical oncologists and functional neurosurgeons. Less is known about the research efforts of pediatric neurosurgeons. The aim of this study was to survey the members of the American Society of Pediatric Neurosurgeons (ASPN) to provide an overview of past research experience, current involvement, funding, and research priorities among pediatric neurosurgeons, and to gather insights that could shape future efforts to advance pediatric neurosurgical research. METHODS A survey was developed using the REDCap platform and distributed to all ASPN members via email. Survey questions used branching logic and were organized into 5 sections: 1) demographics, 2) research experience during training, 3) research experience as an attending physician, 4) research priorities, and 5) multicenter consortiums. RESULTS One hundred thirty-nine respondents completed more than half of the survey, for an overall response rate of 52.1%. Most respondents (96.4%) participated in research during their training, but only 38.1% had received a grant during training. In contrast, 83.9% of respondents were actively engaged in research as an attending physician, and 48.7% reported active funding (60.7% federal, 41.8% from foundations, and 42.9% internal). Furthermore, 74.8% of respondents reported being a member of a multicenter research consortium, and 82.4% agreed that multicenter research is important. Seventy percent of respondents agreed that the ASPN should facilitate multicenter consortium-based pediatric neurosurgical research, offering free-text responses with the following suggestions: 1) set aside time at the annual meeting to discuss multicenter research (22.9%); 2) encourage collaboration and facilitate networking (42.9%); 3) provide centralized core services such as a data coordinator and biostatistician (12.9%); and 4) provide training, education, and mentoring (7.1%). CONCLUSIONS The survey provided a cross-sectional analysis of the pediatric neurosurgical research landscape, highlighting the current state of research experience, funding, and the perspectives of pediatric neurosurgeons regarding research priorities. Despite the challenges, there is clear recognition of the importance of multicenter research collaboration. These findings reinforce the ongoing necessity of organized initiatives to support pediatric neurosurgical research and offer actionable insights into how organized pediatric neurosurgery can contribute to this critical endeavor.