An exceptionally rare case of a diffuse midline glioma with concomitant H3.1 K27M and G34R mutations in the HIST1H3C (H3C3) gene.

Histone mutations (H3 K27M, H3 G34R/V) are molecular features defining subtypes of paediatric-type diffuse high-grade gliomas (HGG) (diffuse midline glioma (DMG), H3 K27-altered, diffuse hemispheric glioma (DHG), H3 G34-mutant). The WHO classification recognises in exceptional cases, these mutations co-occur. We report one such case of a 2-year-old female presenting with neurological symptoms; MRI imaging identified a brainstem lesion which was biopsied.

Autologous haematopoietic stem cell transplantation for treatment of multiple sclerosis and neuromyelitis optica spectrum disorder - recommendations from ECTRIMS and the EBMT.

Autologous haematopoietic stem cell transplantation (AHSCT) is a treatment option for relapsing forms of multiple sclerosis (MS) that are refractory to disease-modifying therapy (DMT). AHSCT after failure of high-efficacy DMT in aggressive forms of relapsing-remitting MS is a generally accepted indication, yet the optimal placement of this approach in the treatment sequence is not universally agreed upon. Uncertainties also remain with respect to other indications, such as in rapidly evolving, severe, treatment-naive MS, progressive MS, and neuromyelitis optica spectrum disorder (NMOSD).

Nociplastic pain among individuals with chronic ocular surface pain: one cause for "pain without stain"?

Chronic ocular surface pain (COSP) refers to interrelated symptoms such as eye burning, aching, and irritation and can occur as an isolated condition or comorbid with numerous ocular disorders, including dry eye syndrome Treatments for COSP are largely aimed at the ocular surface and modulating pain arising from damaged corneal nerves; however, the average impact of these treatments on COSP are low to absent. A potential explanation for this is that in a subset of patients with COSP, individuals have amplified and/or dysregulated neural signaling and sensory processing within the central nervous system (CNS). As in other chronic pain conditions, this might be the pathogenic mechanism primarily responsible for maintaining pain - a phenomenon now referred to as nociplastic pain.

Assessment of the thymus in fetuses prior to spontaneous preterm birth using functional MRI.

Objectives: The aim of this study was to utilise T2* relaxometry (an indirect method of quantifying tissue oxygenation) to assess the fetal thymus in uncomplicated pregnancies throughout gestation and in a cohort of fetuses that subsequently deliver very preterm.

Methods: A control group of participants with low-risk pregnancies were recruited and retrospectively excluded if they developed any pregnancy related complications after scanning. Participants were recruited who were deemed to be at very high risk of delivery prior to 32 weeks' gestation and retrospectively excluded if they did not deliver prior to this gestation.

Effect of the prolene ripcord suture on the baerveldt tube position: A case study.

A 42 year old Afro-Caribbean man underwent Baerveldt Glaucoma Implant (BGI) surgery for silicone oil induced glaucoma. Three months following initial surgery, the 3-0 prolene ripcord suture was removed. Anterior segment OCT demonstrates the position of the intracameral portion of the tube before and after the 3/0 prolene stent suture (PSS) removal.

Assessing whether providing regular, free HIV self-testing kits reduces the time to HIV diagnosis: an internet-based, randomised controlled trial in men who have sex with men.

Background: The risk of onwards HIV transmission is strongly influenced by the interval between HIV infection and its diagnosis. The SELPHI trial examined whether this interval could be reduced by offering free HIV self-testing kits to men-who-have-sex with-men (MSM).

Setting: Internet-based RCT of MSM aged ≥16 years, resident in England/Wales, recruited via sexual and social networking sites.

Predicting ALS informant distress from cognitive and behavioural change in people with ALS.

Background: The cognitive and behavioural changes that occur in around 50% of people with amyotrophic lateral sclerosis (ALS) may significantly affect people around them, contributing to heightened burden, anxiety, and depression. Despite existing evidence linking behavioural impairment to caregiver distress, the role of cognitive impairment remains less clear, with mixed findings on its impact.

Methods: This study assessed the influence of cognitive and behavioural impairments in people with ALS on the distress of their nominated informants.

Balance recovery and its link to vestibular agnosia in traumatic brain injury: a longitudinal behavioural and neuro-imaging study.

Background: Vestibular dysfunction causing imbalance affects c. 80% of acute hospitalized traumatic brain injury (TBI) cases. Poor balance recovery is linked to worse return-to-work rates and reduced longevity.

NR1D1 Inhibition Enhances Autophagy and Mitophagy in Alzheimer's Disease Models.

Alzheimer's disease (AD) is marked by extracellular beta-amyloid (Aβ) plaques and intracellular Tau tangles, leading to progressive cognitive decline and neuronal dysfunction. Impaired autophagy, a process by which a cell breaks down and destroys damaged or abnormal proteins and other substances, contributes to AD progression. This study investigated Nuclear Receptor Subfamily 1 Group D Member 1 (NR1D1) as a potential therapeutic target for modulating autophagy.

Assessing Clinical Improvement of Infants Hospitalized for Respiratory Syncytial Virus-Related Critical Illness.

Background: Pediatric respiratory syncytial virus (RSV)-related acute lower respiratory tract infection (LRTI) commonly requires hospitalization. The Clinical Progression Scale Pediatrics (CPS-Ped) measures level of respiratory support and degree of hypoxia across a range of disease severity, but it has not been applied in infants hospitalized with severe RSV-LRTI.

Methods: We analyzed data from a prospective surveillance registry of infants hospitalized for RSV-related complications across 39 U.

Relationships of eating behaviors with psychopathology, brain maturation and genetic risk for obesity in an adolescent cohort study.

Unhealthy eating, a risk factor for eating disorders (EDs) and obesity, often coexists with emotional and behavioral problems; however, the underlying neurobiological mechanisms are poorly understood. Analyzing data from the longitudinal IMAGEN adolescent cohort, we investigated associations between eating behaviors, genetic predispositions for high body mass index (BMI) using polygenic scores (PGSs), and trajectories (ages 14-23 years) of ED-related psychopathology and brain maturation. Clustering analyses at age 23 years ( = 996) identified 3 eating groups: restrictive, emotional/uncontrolled and healthy eaters.

Repeat expansions in gene in refractory chronic cough.

Introduction: Refractory chronic cough (RCC), persisting despite addressing contributory diagnoses, is likely underpinned by neurally mediated cough hypersensitivity. disorders are genetic neurodegenerative conditions caused by biallelic repeat expansion sequences, commonly presenting with cough, followed by neurological features including cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). The prevalence and identifying clinical characteristics of repeat-expansion disorders in patients with RCC are unknown.

Macrophage to neuron communication via extracellular vesicles in neuropathic pain conditions.

Neuropathic pain following peripheral nerve injury results from maladaptive changes in neurons and immune cells contribution to mechanisms underlying chronic pain. Specifically, in dorsal root ganglia (DRG), sensory neuron cell bodies release extracellular vesicles (EVs) which promote pro-inflammatory macrophage accumulation that facilitates nociceptive signalling. Here, we show that macrophages shuttle EVs to neurons.

Patient-reported outcome measures for life participation in patients with chronic kidney disease: a systematic review.

Background: The symptoms, comorbidities and treatment burden associated with chronic kidney disease (CKD) can be debilitating and limit life participation in patients with CKD not requiring kidney replacement therapy (KRT). The aim of this study was to identify the characteristics, content and psychometric properties of patient-reported outcome measures (PROMs) used to assess life participation in patients with CKD.

Methods: We searched MEDLINE, Embase, PsycINFO and CINAHL from database inception to February 2023 for all studies that reported life participation in patients with CKD (stages 1-5 not requiring kidney replacement therapy).

Iron management and exercise training in individuals with chronic kidney disease: lived experiences.

Background: Non-anaemic iron deficiency is highly prevalent in people living with chronic kidney disease (CKD) but is underdiagnosed and undertreated, especially in earlier stages of CKD. A multicentre trial assessing the effect of intravenous iron supplementation in iron-deficiency but not anaemic people with CKD included a qualitative sub-study that aimed to explore the patient experience and psychosocial impact of living with CKD and iron deficiency, and the experience of the therapeutic intervention (intravenous iron and exercise).

Methods: Semi-structured interviews were conducted with 23 trial participants blinded to treatment.

A rare case of bladder paraganglioma treated successfully with robotic partial cystectomy.

Unlabelled: Bladder paragangliomas are rare extra-adrenal urological tumors that account for around 0.05% of bladder cancers. Their diagnosis is often delayed because of the rarity of these tumors.

The current clinical approach to feeding and eating disorders aimed to increase personalization of management.

Feeding and eating disorders (FEDs) are a heterogeneous grouping of disorders at the mind-body interface, with typical onset from childhood into emerging adulthood. They occur along a spectrum of disordered eating and compensatory weight management behaviors, and from low to high body weight. Psychiatric comorbidities are the norm.

The lived experience of postpartum depression and psychosis in women: a bottom-up review co-written by experts by experience and academics.

This is the first bottom-up review of the lived experience of postpartum depression and psychosis in women. The study has been co-designed, co-conducted and co-written by experts by experience and academics, drawing on first-person accounts within and outside the medical field. The material initially identified was shared with all participants in a cloud-based system, discussed across the research team, and enriched by phenomenological insights.

Cannabis Use Cessation and the Risk of Psychotic Disorders: A Case-Control Analysis from the First Episode Case-Control EU-GEI WP2 Study: L'arrêt de l'utilisation du cannabis et le risque de troubles psychotiques: Une analyse cas-témoins tirée de l'étude cas-témoins EU-GEI WP2 centrée sur les premiers épisodes psychotiques.

Objectives: To establish whether the risk of psychotic disorders in cannabis users changes with time following cannabis cessation using data from the European Network of National Networks studying Gene-Environment Interactions in Schizophrenia (EU-GEI) case-control study.

Methods: The EU-GEI case-control study collected data from first episode psychosis patients and population controls across sites in Europe and Brazil between May 2010 and April 2015. Adjusted logistic regressions were applied to examine whether the odd of psychosis case status changed: (1) with time following cannabis cessation and (2) across different cannabis use groups.