Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Purpose: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity.

School-entry age and academic difficulties at 7 years of age in children born very preterm: A call for age-corrected schooling: School-entry age and academic difficulties at 7 years of age in children born very preterm.

Background: Very preterm children are at greater risk of academic difficulties (AD). Some of them start school a year earlier than anticipated during pregnancy due to being born preterm. The aim of this study was to analyze the relationship between neurodevelopment, school-entry age, and AD at age seven.

Characteristics of patients enrolled in hospice presenting to the emergency department.

Objectives: Emergency Departments (EDs) frequently care for patients with life-limiting illnesses, with nearly 1 in 5 patients enrolled in hospice presenting to an ED during their hospice enrollment. This study investigates the reasons patients enrolled in hospice seek care in the ED, the interventions they receive, and their outcomes.

Methods: Multicenter, retrospective cohort study of patients enrolled in hospice who presented to an ED within a health system between 2018 and 2023.

Parental attitudes and experiences in pursuing genetic testing for their child's motor speech disorder.

Rare and typically severe motor speech disorders such as childhood apraxia of speech (CAS) and dysarthria affect about 1 in 1000 children. The genetic basis of these speech disorders is well-documented, with approximately 30% of children who undergo genomic testing receiving an explanatory genetic diagnosis. As more children with speech disorders are offered genetic testing, understanding parental views and experiences around genetic testing for their child is critical in providing effective pre- and post-test genetic counselling.

Federated privacy-protected meta- and mega-omics data analysis in multi-center studies with a fully open-source analytic platform.

The importance of maintaining data privacy and complying with regulatory requirements is highlighted especially when sharing omic data between different research centers. This challenge is even more pronounced in the scenario where a multi-center effort for collaborative omics studies is necessary. OmicSHIELD is introduced as an open-source tool aimed at overcoming these challenges by enabling privacy-protected federated analysis of sensitive omic data.

Embedding an illustrator in the process of co-producing resources to enhance communication and shared decision-making for patients prescribed high-risk medication.

Objectives: To examine how embedding an illustrator in the process of co-producing resources to support shared decision-making (SDM) can enhance communication between patients and healthcare professionals (HCPs).

Methods: Three case studies were identified involving high-risk medications where the utility of effective visual communication resources is key to SDM due to the risk of information being misinterpreted leading to potential serious adverse effects. An iterative approach was adopted to the phases of co-production, where the Illustrator acted as a conduit between patients and specialist knowledge of the clinical team.

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome.

Alteration in the ubiquitin-proteasome system results in human disorders with neurological and/or autoinflammatory presentation. Haploinsufficiency of PSMD12, which encodes a subunit of the core component of the proteasome, causes Stankiewicz-Isidor syndrome (STISS), characterized by intellectual disability, autism spectrum disorder, craniofacial dysmorphisms, with or without other congenital anomalies, and autoinflammation. We described six patients (four adults) from two unrelated families carrying a known p.

A high proportion of patients demonstrate recall bias in the retrospective collection of patient-reported outcomes following hip arthroscopy.

Purpose: The aim of this study is to assess agreement between retrospectively and prospectively collected patient-reported outcome measures (PROMs) following hip arthroscopy for femoroacetabular impingement syndrome (FAIS).

Methods: Patients undergoing hip arthroscopy from 2021 to 2023 for FAIS completed preoperative PROMs, including the modified Harris Hip Score (mHHS) and the Non-Arthritic Hip Score (NAHS). Post-operatively, patients were surveyed and asked to recall their preoperative hip function.

EXPRESS: Eye Movements as Indices of Spatial and Associative Memory.

Previous research has shown that eye movements can serve as an indirect indicator of relational memory. The goal of the current research was to assess how eye movements coincide with different forms of spatial and associative memory. Young adults encoded object-scene combinations and were subsequently presented with repeated, novel, and manipulated scenes.

SARS-CoV-2 EndoU-ribonuclease regulates RNA recombination and impacts viral fitness.

Coronaviruses (CoVs) maintain large RNA genomes that frequently undergoes mutations and recombination, contributing to their evolution and emergence. In this study, we find that SARS-CoV-2 has greater RNA recombination frequency than other human CoVs. In addition, coronavirus RNA recombination primarily occurs at uridine (U)-enriched RNA sequences.

'… the most complex and lyrical song of experience': Walter Benjamin and a dialectical image of madness. Introduction to Walter Benjamin for psychiatry (III).

In this paper I explore Walter Benjamin's complex thoughts about the concept of experience to illuminate a central paradox when thinking about madness. This paradox concerns the need to hold together constellations of concepts that appear to be diametrically opposed. On the one hand there is the realm of the psychopathological; a psychiatric thinking of madness as mental illness that refers to suffering, loss of existence, and dysfunction.

History, 'nowtime' () and dialectical images: introduction to Walter Benjamin for psychiatry (I).

Considered by many the foremost German language literary critic of the first half of the 20 century, Walter Benjamin remains a star in our contemporary constellation of cultural criticism. His broad range of reference coupled with his dazzling linguistic versatility and radical understanding of technological transformation and its relation to society, continue to offer insights that help us respond better to the 21 century's disorienting pace of innovation and change. Also, to measure the distance we have travelled since his contributions.

From Single Words to Sentence Production: Shared Cortical Representations but Distinct Temporal Dynamics.

Sentence production is the uniquely human ability to transform complex thoughts into strings of words. Despite the importance of this process, language production research has primarily focused on single words. It remains an untested assumption that insights from this literature generalize to more naturalistic utterances like sentences.

An Eponymous History of Hemostatic, Tissue, and Reduction Clamps in Orthopedic Surgery.

Eponyms are widely used in the field of orthopedic surgery, including for surgical instruments. Although their use is at times controversial, an appreciation of the history behind eponymous terms allows one to both recognize the shortcomings of the past and simultaneously be inspired by ingenious inventors. The primary purpose of this review is to provide a historical perspective of clamps and forceps commonly used in orthopedic surgery, to better appreciate the evolution of their use over time, and to inspire innovation to constantly improve upon surgical instrumentation as the field of orthopedic surgery advances.

Polygenic Risk Scores and Hearing Loss Phenotypes in Children.

Importance: Monogenic causes of childhood hearing loss are well established, as are polygenic risk contributions to age-related hearing loss. However, an untested possibility is that polygenic risk scores (PRS) also contribute to childhood hearing loss of all severities, alongside environmental and/or monogenic causes.

Objective: To examine the association between a PRS for adult hearing loss and childhood hearing loss phenotypes.

Implementing a Virtual Discharge Nurse Pilot: Utilizing the Pathway to Excellence® Framework.

Objective: The virtual nurse (VN) pilot was developed to assist bedside nurses in administrative tasks, including discharges and education, from a remote location.

Background: Bedside nurse vacancies have increased, leading to a shortage of resources for the care team and less time for nurses to provide hands-on care to patients.

Methods: A survey showed 77% of nurses spend more than 3 hours per shift on admissions, discharges, and patient education.

Infliximab versus interferon-alpha in the treatment of Behçet's Syndrome: Clinical data from the BIO-BEHÇET'S randomised controlled trial.

Objectives: Whilst biologic therapy is used for Behçet's Syndrome of all subtypes refractory to first-line immunomodulation, there has been an absence of high-quality evidence-and no predictive biomarkers to optimally inform choice. BIO-BEHÇET'S was a randomised, controlled, head-to-head clinical trial comparing the two most frequently used biologics in active refractory Behçet's.

Methods: Bayesian-designed, pragmatic, standard of care, two-arm, parallel head-to-head trial at four UK centres.