Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders and frequently show combined oxidative phosphorylation deficiency.

Artificial intelligence assisted operative anatomy recognition in endoscopic pituitary surgery.

Pituitary tumours are surrounded by critical neurovascular structures and identification of these intra-operatively can be challenging. We have previously developed an AI model capable of sellar anatomy segmentation. This study aims to apply this model, and explore the impact of AI-assistance on clinician anatomy recognition.

Artificial Intelligence Assisted Surgical Scene Recognition: A Comparative Study Amongst Healthcare Professionals.

Objective: This study aimed to compare the ability of a deep-learning platform (the MACSSwin-T model) with healthcare professionals in detecting cerebral aneurysms from operative videos. Secondly, we aimed to compare the neurosurgical team's ability to detect cerebral aneurysms with and without AI-assistance.

Background: Modern microscopic surgery enables the capture of operative video data on an unforeseen scale.

Skull Base Repair following Resection of Vestibular Schwannoma: A Systematic Review (Part 1: The Retrosigmoid Approach).

 Despite advances in skull-base reconstruction techniques, cerebrospinal fluid (CSF) leaks remain a common complication following retrosigmoid (RS) vestibular schwannoma (VS) surgery. We aimed to review and classify the available strategies used to prevent CSF leaks following RS VS surgery.  A systematic review, including studies of adults undergoing RS VS surgery since 2000, was conducted.

Skull Base Repair following Resection of Vestibular Schwannoma: A Systematic Review (Part 2: The Translabyrinthine Approach).

 Despite advances in skull base reconstruction techniques, cerebrospinal fluid (CSF) leaks remain a relatively common complication after translabyrinthine (TL) vestibular schwannoma (VS) surgery. We conducted a systematic review to synthesize the repair techniques and materials used in TL VS surgery to prevent CSF leaks.  A systematic review of studies published since 2000 reporting techniques to prevent CSF leaks during adult TL VS surgery was conducted.

Spreading ridge migration enabled by plume-ridge de-anchoring.

It has long been recognised that spreading ridges are kept in place by competing subduction forces that drive plate motions. Asymmetric strain rates pull spreading ridges in the direction of the strongest slab pull force, which partially explains why spreading ridges can migrate vast distances. However, the interaction between mantle plumes and spreading ridges plays a relatively unknown role on the evolution of plate boundaries.

Biallelic variants in result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

The mitoribosome synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders, and frequently show combined oxidative phosphorylation deficiency.

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.

Remote myocardial fibrosis predicts adverse outcome in patients with myocardial infarction on clinical cardiovascular magnetic resonance imaging.

Background: Heart failure (HF) most commonly occurs in patients who have had a myocardial infarction (MI), but factors other than MI size may be deterministic. Fibrosis of myocardium remote from the MI is associated with adverse remodeling. We aimed to 1) investigate the association between remote myocardial fibrosis, measured using cardiovascular magnetic resonance (CMR) extracellular volume fraction (ECV), and HF and death following MI, 2) identify predictors of remote myocardial fibrosis in patients with evidence of MI and determine the relationship with infarct size.

Quantum pathways for charged track finding in high-energy collisions.

In high-energy particle collisions, charged track finding is a complex yet crucial endeavor. We propose a quantum algorithm, specifically quantum template matching, to enhance the accuracy and efficiency of track finding. Abstracting the Quantum Amplitude Amplification routine by introducing a data register, and utilizing a novel oracle construction, allows data to be parsed to the circuit and matched with a hit-pattern template, without prior knowledge of the input data.

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.

AvrSr27 is a zinc-bound effector with a modular structure important for immune recognition.

Effector proteins are central to the success of plant pathogens, while immunity in host plants is driven by receptor-mediated recognition of these effectors. Understanding the molecular details of effector-receptor interactions is key for the engineering of novel immune receptors. Here, we experimentally determined the crystal structure of the Puccinia graminis f.

Assessment of the knowledge, attitude and practices of the informed consent process in oral healthcare among dental students in Makerere University Dental Hospital, Uganda.

Introduction: Informed consent is an ethical and legal component of healthcare. It ensures patient autonomy and allows patients to make decisions regarding their treatment. In dental care, informed consent is particularly important because most dental procedures are invasive.

Cyanobacterial α-carboxysome carbonic anhydrase is allosterically regulated by the Rubisco substrate RuBP.

Cyanobacterial CO concentrating mechanisms (CCMs) sequester a globally consequential proportion of carbon into the biosphere. Proteinaceous microcompartments, called carboxysomes, play a critical role in CCM function, housing two enzymes to enhance CO fixation: carbonic anhydrase (CA) and Rubisco. Despite its importance, our current understanding of the carboxysomal CAs found in α-cyanobacteria, CsoSCA, remains limited, particularly regarding the regulation of its activity.

FLT4 causes developmental disorders of the cardiovascular and lymphovascular systems via pleiotropic molecular mechanisms.

Aims: Rare, deleterious genetic variants in FLT4 are associated with Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease. The distinct genetic variants in FLT4 are also an established cause of Milroy disease, the most prevalent form of primary hereditary lymphoedema. The phenotypic features of these two conditions are non-overlapping, implying pleiotropic cellular mechanisms during development.

PitSurgRT: real-time localization of critical anatomical structures in endoscopic pituitary surgery.

Purpose: Endoscopic pituitary surgery entails navigating through the nasal cavity and sphenoid sinus to access the sella using an endoscope. This procedure is intricate due to the proximity of crucial anatomical structures (e.g.

The structural repertoire of f. sp. effectors revealed by experimental and computational studies.

Plant pathogens secrete proteins, known as effectors, that function in the apoplast or inside plant cells to promote virulence. Effector recognition by cell-surface or cytosolic receptors results in the activation of defence pathways and plant immunity. Despite their importance, our general understanding of fungal effector function and recognition by immunity receptors remains poor.

Can ChatGPT outperform a neurosurgical trainee? A prospective comparative study.

Purpose: This study aimed to compare the performance of ChatGPT, a large language model (LLM), with human neurosurgical applicants in a neurosurgical national selection interview, to assess the potential of artificial intelligence (AI) and LLMs in healthcare and provide insights into their integration into the field.

Methods: In a prospective comparative study, a set of neurosurgical national selection-style interview questions were asked to eight human participants and ChatGPT in an online interview. All participants were doctors currently practicing in the UK who had applied for a neurosurgical National Training Number.

Point-of-care lung ultrasound in detecting pneumonia: A systematic review.

Purpose: Limited evidence exists to assess the sensitivity, specificity, and accuracy of point-of-care lung ultrasound (LUS) across all age groups. This review aimed to investigate the benefits of point-of-care LUS for the early diagnosis of pneumonia compared to traditional chest X-rays (CXR) in a subgroup analysis including pediatric, adult, and geriatric populations.

Material And Methods: This systematic review examined systematic reviews, meta-analyses, and original research from 2017 to 2021, comparing point-of-care LUS and CXR in diagnosing pneumonia among adults, pediatrics and geriatrics.