The p.L1795F variant causes Parkinson's disease in the European population.

Pathogenic variants in the gene represent the most common cause of autosomal dominant Parkinson's disease (PD) worldwide. We identified the p.L1795F variant in 14 White/European ancestry PD patients, including two families with multiple affected carriers and seven additional affected individuals with familial PD using genotyping and sequencing data from more than 50,000 individuals through GP2, AMP-PD, PDGENEration, and CENTOGENE.

Monobloc vs. Modular Radial-Head Arthroplasty for Complex Elbow Trauma: Long-Term Follow-Up and Comparative Evaluation.

Mason Type 3 radial-head fractures are typically treated with open reduction and internal fixation (ORIF) or radial-head arthroplasty (RHA). Prosthetic options include traditional monobloc implants and newer modular implants designed to match patient anatomy. While short- and medium-term outcomes of metallic RHA are generally favorable, this study aims to compare the long-term outcomes of patients treated with monobloc versus modular implants.

Development of a Tremor Detection Algorithm for Use in an Academic Movement Disorders Center.

Tremor, defined as an "involuntary, rhythmic, oscillatory movement of a body part", is a key feature of many neurological conditions including Parkinson's disease and essential tremor. Clinical assessment continues to be performed by visual observation with quantification on clinical scales. Methodologies for objectively quantifying tremor are promising but remain non-standardized across centers.

Neuromelanin-sensitive MRI correlates of cognitive and motor function in Parkinson's disease with freezing of gait.

Substantia nigra pars compacta (SNc) and locus coeruleus (LC) are neuromelanin-rich nuclei implicated in diverse cognitive and motor processes in normal brain function and disease. However, their roles in aging and neurodegenerative disease mechanisms have remained unclear due to a lack of tools to study them . Preclinical and post-mortem human investigations indicate that the relationship between tissue neuromelanin content and neurodegeneration is complex.

Higher rates of intraoperative fractures with compaction broaching compared to conventional broaching during hip hemiarthroplasty for femoral neck fractures.

Purpose: Intraoperative periprosthetic femoral fracture (IPFF) is a known iatrogenic complication during hemiarthroplasty (HA) which may lead to inferior outcomes. The risk factors for IPFF during HA in displaced femoral neck fractures (FNF) remains to be fully elucidated. This study aims to compare IPFF rates between compaction broaching and conventional broaching techniques for cementless HA in FNF.

Deutetrabenazine Provides Long-Term Benefit for Tardive Dyskinesia Regardless of Underlying Condition and Dopamine Receptor Antagonist Use: A Post Hoc Analysis of the 3-Year, Open-Label Extension Study.

Background: Deutetrabenazine is approved for adults with tardive dyskinesia (TD). Data based on underlying psychiatric condition and baseline dopamine receptor antagonist (DRA) use are limited.

Methods: Patients with TD who completed parent studies ARM-TD or AIM-TD were eligible for the 3-year, open-label extension study (RIM-TD; NCT02198794).

Intra-articular Knee Injection Is Less Painful Than Expected.

Background: Intra-articular knee injections (IAKI) are commonly used for diagnostic and therapeutic purposes but may induce anxiety and fear. While existing literature has identified the variance between expected and actual pain levels in various medical procedures, this phenomenon remains unexplored in the context of IAKI.

Objectives: To describe the differences between anticipated and experienced pain recorded during IAKI.

Adherence of Patients to Methods of Self-Reduction of Shoulder Dislocation Taught via Smartphones: A Medium-Term Follow-up Survey.

Introduction: Self-reduction of a shoulder dislocation may reduce the time from injury to reduction and to the relief of patient discomfort. The purpose of this study was to assess adherence to earlier acquired self-reduction techniques during real-time recurrent shoulder dislocation.

Methods: A telephone survey was conducted among 58 patients previously taught shoulder self-reduction via an instructional video sent to their smartphones during a visit to the emergency department (ED) for the treatment of anterior shoulder dislocation.

Imaging-Based Deep Learning for Predicting Desmoid Tumor Progression.

Desmoid tumors (DTs) are non-metastasizing and locally aggressive soft-tissue mesenchymal neoplasms. Those that become enlarged often become locally invasive and cause significant morbidity. DTs have a varied pattern of clinical presentation, with up to 50-60% not growing after diagnosis and 20-30% shrinking or even disappearing after initial progression.

Radiological Comparison of Canal Fill between Collared and Non-Collared Femoral Stems: A Two-Year Follow-Up after Total Hip Arthroplasty.

Collared femoral stems in total hip arthroplasty (THA) offer reduced subsidence and periprosthetic fractures but raise concerns about fit accuracy and stem sizing. This study compares collared and non-collared stems to assess the stem-canal fill ratio (CFR) and fixation indicators, aiming to guide implant selection and enhance THA outcomes. This retrospective single-center study examined primary THA patients who received Corail cementless stems between August 2015 and October 2020, with a minimum of two years of radiological follow-up.

Use of Respiratory and Contact Precautions to Decrease the Spread of SARS-CoV-2 Infection Was Not Associated with a Decrease in Endometritis-Intra-Amniotic Infection.

Objective:  To decrease the spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on the Mount Sinai Hospital's obstetric service, additional contact and respiratory precautions for patients and staff were implemented. Patients were allowed only one support person, SARS-CoV-2 tested on admission, and required to mask during hospitalization. Staff were required to wear masks and eye shields, gloves for all patient care, and gowns for care with SARS-CoV-2-infected patients.

Mechanical failure of distal femur mega prosthesis due to polyaryl-ether-ether-ketone (PEEK) hinge component.

Background: Polyaryl-ether-ether-ketone (PEEK) has gained popularity as a substrate for orthopaedic hardware due to its desirable properties such as heat and deformation resistance, low weight, and ease of manufacturing. However, we observed a relatively high failure rate of PEEK-based hinges in a distal femur reconstruction system. In this study, we aimed to evaluate the proportion of patients who experienced implant failure, analyse the mechanism of failure, and document the associated clinical findings.

Validating a Novel 2D to 3D Knee Reconstruction Method on Preoperative Total Knee Arthroplasty Patient Anatomies.

Background: As advanced technology continues to evolve, incorporating robotics into surgical procedures has become imperative for precision and accuracy in preoperative planning. Nevertheless, the integration of three-dimensional (3D) imaging into these processes presents both financial considerations and potential patient safety concerns. This study aims to assess the accuracy of a novel 2D-to-3D knee reconstruction solution, RSIP XPlan.

Safety of Deutetrabenazine for the Treatment of Tardive Dyskinesia and Chorea Associated with Huntington Disease.

Introduction: Deutetrabenazine is a vesicular monoamine transporter 2 inhibitor used to treat tardive dyskinesia (TD) and chorea associated with Huntington disease (HD). To enhance detection of safety signals across individual trials, integrated safety analyses of deutetrabenazine in TD and HD chorea were conducted.

Methods: For TD, safety data were integrated from two 12-week pivotal studies (ARM-TD and AIM-TD) and through week 15 of the open-label extension (OLE) study (RIM-TD).

Long-term safety, tolerability and efficacy of apomorphine sublingual film in patients with Parkinson's disease complicated by OFF episodes: a phase 3, open-label study.

Background: Apomorphine sublingual film (SL-APO) is an on-demand treatment for OFF episodes in patients with Parkinson's disease (PD).

Objective: To assess the long-term (≥ 3 years) safety/tolerability and efficacy of SL-APO.

Methods: Study CTH-301 ( http://www.

Volar Locking Plating of Extra-articular Distal Radius Fracture: A Retrospective Clinical Study Comparing Locking Screws versus Smooth Locking Pegs.

 Open reduction and internal fixation of distal radius fractures is one of the most common procedures performed in wrist surgery. The use of volar locking plate has gained increasing interest in the past decade. Epiphyseal fixation can be done either with locking screws or smooth locking pegs, with no evidence supporting the use of one rather than the other.

Evaluation of a Photo Captioning Cognitive Empathy Intervention for Dementia Caregivers.

Objectives: The goal of this study was to develop and evaluate an intervention aimed at increasing cognitive empathy, improving mental health, and reducing inflammation in dementia caregivers, and to examine the relevant neural and psychological mechanisms.

Methods: Twenty dementia caregivers completed an intervention that involved taking 3-5 daily photographs of their person living with dementia (PLWD) over a period of 10 days and captioning those photos with descriptive text capturing the inner voice of the PLWD. Both before and after the intervention, participants completed questionnaires, provided a blood sample for measures of inflammation, and completed a neuroimaging session to measure their neural response to viewing photographs of their PLWD and others.

Preclinical Evaluation of Novel Positron Emission Tomography (PET) Probes for Imaging Leucine-Rich Repeat Kinase 2 (LRRK2).

Parkinson's disease (PD) is one of the most highly debilitating neurodegenerative disorders, which affects millions of people worldwide, and leucine-rich repeat kinase 2 (LRRK2) mutations have been involved in the pathogenesis of PD. Developing a potent LRRK2 positron emission tomography (PET) tracer would allow for in vivo visualization of LRRK2 distribution and expression in PD patients. In this work, we present the facile synthesis of two potent and selective LRRK2 radioligands [C] ([C]PF-06447475) and [F] ([F]PF-06455943).

Age as a Risk Factor for Intraoperative Periprosthetic Femoral Fractures in Cementless Hip Hemiarthroplasty for Femoral Neck Fractures: A Retrospective Analysis.

Background: Understanding the risk factors and outcomes of intraoperative periprosthetic femoral fractures (IPFF) during hip arthroplasty is crucial for appropriate perioperative management. Previous studies have identified risk factors for IPFF in total hip arthroplasty patients, but data for hip hemiarthroplasty (HA) is lacking. The aim of this study was to determine the age associated with increased rates of IPFF in patients undergoing HA.

Impact of deep brain stimulation on gait in Parkinson disease: A kinematic study.

Background: The effect of Deep Brain Stimulation (DBS) on gait in Parkinson's Disease (PD) is poorly understood. Kinematic studies utilizing quantitative gait outcomes such as speed, cadence, and stride length have shown mixed results and were done mostly before and after acute DBS discontinuation.

Objective: To examine longitudinal changes in kinematic gait outcomes before and after DBS surgery.

Addition of gentamicin for antibiotic prophylaxis in hip hemiarthroplasty does not decrease the rate of surgical site infection.

Background: The addition of Gram-negative coverage to antibiotic prophylaxis protocols prior to elective total hip arthroplasty (THA) has been reported to reduce periprosthetic joint infection (PJI). However, it is unknown whether adding a Gram-negative-targeted antibiotic agent improves outcomes in the trauma population. This study aimed to investigate whether the addition of a single, pre-operative dose of Gentamicin is associated with lower rates of PJI in patients undergoing hemiarthroplasty (HA) as treatment for a hip fracture.