Mapping patient encounters to identify recruitment timepoints after brain tumour surgery: a cohort and cross-sectional study.

Objective: This study aims to develop a comprehensive process map for patients with brain tumours to identify opportunities for quality improvement and automated data collection. Through optimising workflows, the overall goal is to improve patient recruitment to clinical trials.

Design: A two-stage mixed methods design, combining qualitative development of a process map with quantitative validation using electronic health records (EHR).

Concept Recognition and Characterization of Patients Undergoing Resection of Vestibular Schwannoma Using Natural Language Processing.

 Natural language processing (NLP), a subset of artificial intelligence (AI), aims to decipher unstructured human language. This study showcases NLP's application in surgical health care, focusing on vestibular schwannoma (VS). By employing an NLP platform, we identify prevalent text concepts in VS patients' electronic health care records (EHRs), creating concept panels covering symptomatology, comorbidities, and management.

Automated Operative Phase and Step Recognition in Vestibular Schwannoma Surgery: Development and Preclinical Evaluation of a Deep Learning Neural Network (IDEAL Stage 0).

Background And Objectives: Machine learning (ML) in surgical video analysis offers promising prospects for training and decision support in surgery. The past decade has seen key advances in ML-based operative workflow analysis, though existing applications mostly feature shorter surgeries (<2 hours) with limited scene changes. The aim of this study was to develop and evaluate a ML model capable of automated operative workflow recognition for retrosigmoid vestibular schwannoma (VS) resection.

Utilising Natural Language Processing to Identify Brain Tumor Patients for Clinical Trials: Development and Initial Evaluation.

Background: Identifying patients eligible for clinical trials through eligibility screening is time and resource-intensive. Natural Language Processing (NLP) models may enhance clinical trial screening by extracting data from Electronic Health Records (EHRs).

Objective: We aimed to determine whether an NLP model can extract brain tumor diagnoses from outpatient clinic letters and link this with ongoing clinical trials.

A Handheld Robot for Endoscopic Endonasal Skull Base Surgery: Updated Preclinical Validation Study (IDEAL Stage 0).

 Endoscopic endonasal surgery (EES) has become increasingly popular, yet anatomical constraints posed by the nose and limitations of nonarticulated instruments render EES technically challenging, with a steep associated learning curve. Therefore, we developed a handheld robot to enhance dexterity in endoscopic neurosurgical procedures. A previous trial of the robot demonstrated its potential advantages in endoscopic neurosurgery but also the need for improvements.

Diffusion changes in minimally invasive parafascicular approach for deep-seated tumours: impact on clinical outcomes.

Minimally invasive parafascicular surgery (MIPS) with the use of tubular retractors achieve a safe resection in deep seated tumours. Diffusion changes noted on postoperative imaging; the significance and clinical correlation of this remains poorly understood. Single centre retrospective cohort study of neuro-oncology patients undergoing MIPS.

Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.

Somatic variation is a major type of genetic variation contributing to human diseases including cancer. Of the vast quantities of somatic variants identified, the functional impact of many somatic variants, in particular the missense variants, remains unclear. Lack of the functional information prevents the translation of rich variation data into clinical applications.

Mapping the Clinical Pathway for Patients Undergoing Vestibular Schwannoma Resection.

Background: The introduction of the electronic health record (EHR) has improved the collection and storage of patient information, enhancing clinical communication and academic research. However, EHRs are limited by data quality and the time-consuming task of manual data extraction. This study aimed to use process mapping to help identify critical data entry points within the clinical pathway for patients with vestibular schwannoma (VS) ideal for structured data entry and automated data collection to improve patient care and research.

Early evaluation of a natural language processing tool to improve access to educational resources for surgical patients.

Purpose: Accessible patient information sources are vital in educating patients about the benefits and risks of spinal surgery, which is crucial for obtaining informed consent. We aim to assess the effectiveness of a natural language processing (NLP) pipeline in recognizing surgical procedures from clinic letters and linking this with educational resources.

Methods: Retrospective examination of letters from patients seeking surgery for degenerative spinal disease at a single neurosurgical center.

Mapping patient education encounters in elective surgery: a cohort study and cross-sectional survey.

Objective: Develop a process map of when patients learn about their proposed surgery and what resources patients use to educate themselves.

Design: A mixed methods design, combining semistructured stakeholder interviews, quantitative validation using electronic healthcare records (EHR) in a retrospective cohort and a cross-sectional patient survey.

Setting: A single surgical centre in the UK.

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Background: Admixture occurs between different ethnic human populations. The global colonization in recent centuries by Europeans led to the most significant admixture in human history. While admixture may enhance genetic diversity for better fitness, it may also impact on human health by transmitting genetic variants for disease susceptibility in the admixture population.

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Background: Genome stability is maintained by the DNA damage repair (DDR) system composed of multiple DNA repair pathways of hundreds of genes. Germline pathogenic variation (PV) in DDR genes damages function of the affected DDR genes, leading to genome instability and high risk of diseases, in particular, cancer. Knowing evolutionary origin of the PVs in human DDR genes is essential to understand the etiology of human diseases.

Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.

Pathogenic variation in DNA mismatch repair (MMR) gene is associated with Lynch syndrome (LS), an autosomal dominant hereditary cancer. Of the 3798 germline variants collected in the ClinVar database, 38.7% (1469) were missense variants, of which 81.

Impact of Preoperative Mapping and Intraoperative Neuromonitoring in Minimally Invasive Parafascicular Surgery for Deep-Seated Lesions.

Background: Transsulcal tubular retractor-assisted minimally invasive parafascicular surgery changes the surgical strategy for deep-seated lesions by promoting a deficit-sparing approach. When integrated with preoperative brain mapping and intraoperative neuromonitoring (IONM), this approach may potentially improve patient outcomes. In this study, we assessed the impact of preoperative brain mapping and IONM in tubular retractor-assisted neuro-oncological surgery.

Classification of PTEN missense VUS through exascale simulations.

Unlabelled: Phosphatase and tensin homolog (PTEN), a tumor suppressor with dual phosphatase properties, is a key factor in PI3K/AKT signaling pathway. Pathogenic germline variation in PTEN can abrogate its ability to dephosphorylate, causing high cancer risk. Lack of functional evidence lets numerous PTEN variants be classified as variants of uncertain significance (VUS).

Butterfly gliomas: a time for stratified management?

Butterfly glioblastomas (bGBM) are a rare subset of WHO grade IV tumours that carry a poor prognosis with a median survival ranging between 3.3 to 6 months. Given their poor prognosis, there is debate over whether histological diagnosis with a biopsy or any surgical or oncological intervention alters disease progression.

Experiences with Cyclical User-Centered Design for Patient and Clinician Facing Medication Reconciliation mHealth Applications.

Accurate medication lists are essential data required to make clinically informed decisions. Obtaining a comprehensive, up-to-date medication list is difficult for clinicians. Patients have limited input into reviewing and reconciling their own medication data.

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Pathogenic variation in BRCA1 and BRCA2 (BRCA) causes high risk of breast and ovarian cancer, and BRCA variation data are important markers for BRCA-related clinical cancer applications. However, comprehensive BRCA variation data are lacking from the Asian population despite its large population size, heterogenous genetic background and diversified living environment across the Asia continent. We performed a systematic study on BRCA variation in Asian population including extensive data mining, standardization, annotation and characterization.

Applications of Molecular Dynamics Simulation in Protein Study.

Molecular Dynamics (MD) Simulations is increasingly used as a powerful tool to study protein structure-related questions. Starting from the early simulation study on the photoisomerization in rhodopsin in 1976, MD Simulations has been used to study protein function, protein stability, protein-protein interaction, enzymatic reactions and drug-protein interactions, and membrane proteins. In this review, we provide a brief review for the history of MD Simulations application and the current status of MD Simulations applications in protein studies.

Identification of deleterious variants of uncertain significance in BRCA2 BRC4 repeat through molecular dynamics simulations.

Large quantity of variants of uncertain significance (VUS) has been identified in cancer predisposition genes, but classification of VUS remains a big challenge. We proposed that the impact of VUS on protein structure stability can be used to identify these with deleterious effects by using molecular dynamics simulation (MDS)-based approach and developed a MDS-based method for missense VUS classification. In the current study, we applied the system to classify the missense VUS in BRCA2.

RBD Double Mutations of SARS-CoV-2 Strains Increase Transmissibility through Enhanced Interaction between RBD and ACE2 Receptor.

The COVID-19 pandemic, caused by SARS-CoV-2, has led to catastrophic damage for global human health. The initial step of SARS-CoV-2 infection is the binding of the receptor-binding domain (RBD) in its spike protein to the ACE2 receptor in the host cell membrane. Constant evolution of SARS-CoV-2 generates new mutations across its genome including the coding region for the RBD in the spike protein.

The Fate of Nonoperative Management in Patients with Lytic Spondylolisthesis.

Background:  There is a lack of consensus within the current literature about the role of nonoperative management in lytic spondylolisthesis. Our objective was to assess the fate that nonoperative management plays in patients diagnosed with lytic spondylolisthesis.

Methods:  Data were collected between May 2015 and February 2020 from 41 patients who were initially referred specifically for instrumented lumbar fixation but were instead planned for nonoperative management as they opted to avoid surgery.

Comprehensive Identification of Deleterious Missense VUS Variants Based on Their Impact on TP53 Structural Stability.

TP53 plays critical roles in maintaining genome stability. Deleterious genetic variants damage the function of TP53, causing genome instability and increased cancer risk. Of the large quantity of genetic variants identified in TP53, however, many remain functionally unclassified as variants of unknown significance (VUS) due to the lack of evidence.