Fifteen-minute consultation: Approach to a child with congenital insensitivity to pain.

The hereditary sensory and autonomic neuropathies (HSANs) are a group of rare genetic disorders characterised by variable phenotypic expression affecting both sensory and autonomic dysfunction. Diagnosing these conditions can be a challenge as the presenting symptoms can be diverse and may overlap. This often leads to a delay in referral and diagnosis.

Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.

Background: Real-world data on the efficacy and safety of onasemnogene abeparvovec (OA) in spinal muscular atrophy (SMA) are needed, especially to overcome uncertainties around its use in older and heavier children. This study evaluated the efficacy and safety of OA in patients with SMA type 1 in the UK, including patients ≥2 years old and weighing ≥13.5 kg.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Background: KBG syndrome is caused by haploinsufficiency of and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nervous system (CNS) and skeletal features remain poorly defined.

Methods: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network.

Quality improvement evaluation of postoperative wound dressings in orthopaedic patients.

Dressings play a key role in postoperative wound care, as clinicians aim to optimise the wound healing environment (including optimal exudate management) and prevent complications such as infection and blistering. Excess exudate can lead to wound breakdown, increased bacterial burden and delaying healing, causing an increased risk of wound infection (superficial) and ultimately increasing the risk of surgical site infection (SSI) (deep infection at the site of the prosthesis). This article describes the evaluation of different postoperative dressings in use within the orthopaedic department of a tertiary hospital, as part of a quality improvement program aimed at evaluating the performance of postoperative dressings and ensuring that the most appropriate dressing is used in the management of postoperative wounds in orthopaedic patients.

A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial.

Background: Edasalonexent (CAT-1004) is an orally-administered novel small molecule drug designed to inhibit NF-κB and potentially reduce inflammation and fibrosis to improve muscle function and thereby slow disease progression and muscle decline in Duchenne muscular dystrophy (DMD).

Objective: This international, randomized 2 : 1, placebo-controlled, phase 3 study in patients ≥4 - < 8 years old with DMD due to any dystrophin mutation examined the effect of edasalonexent (100 mg/kg/day) compared to placebo over 52 weeks.

Methods: Endpoints were changes in the North Star Ambulatory Assessment (NSAA; primary) and timed function tests (TFTs; secondary).

Fifteen-minute consultation: A structured approach to the management of stroke in a child.

Childhood stroke is a rare but important diagnosis. Even though most children with stroke are ultimately cared for by specialist multidisciplinary paediatric neurology teams, their initial presentation will have been to a general paediatric admissions team. Assessing and managing children who present with stroke in the general paediatric setting can be challenging due to wide variation in its clinical features and underlying aetiologies.

T2-highlighted U-fibres and rapid parenchymal volume loss in AESD: An under-recognised subtype of paediatric acute encephalopathy syndromes.

Acute Encephalopathy with Reduced Subcortical Diffusion or AED is a unique subtype of acute paediatric encephalopathy which presents with altered mental status, prolonged seizures and developing characteristic radiological signal changes within the subcortical white matter. Reports of such cases have mainly been from Japan (Takanashi, 2009) and this radiological finding has been recognised as a novel feature of AED. We present three paediatric cases from a tertiary paediatric neurosciences centre in Manchester (Royal Manchester Children's hospital) with characteristic subcortical signal change, and furthermore, follow up imaging which in all 3 patients demonstrated a varying degree of cerebral atrophy.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome.

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few years of life and with central nervous system involvement, whereas others present a milder course. We provide a comprehensive report of the relative frequency and clinical and genetic spectrum of CMD in the UK. Genetic analysis of CMD genes in the UK is centralised in London and Newcastle.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in . The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families.

One rhinophore probably provides sufficient sensory input for odour-based navigation by the nudibranch mollusc Tritonia diomedea.

Tritonia diomedea (synonymous with Tritonia tetraquetra) navigates in turbulent odour plumes, crawling upstream towards prey and downstream to avoid predators. This is probably accomplished by odour-gated rheotaxis, but other possibilities have not been excluded. Our goal was to test whether T.

A valuable non-invasive diagnostic investigation for paediatric idiopathic brachial neuritis.

Idiopathic brachial neuritis (idiopathic neuralgic amyotrophy) in children is a well-recognized but rare condition. Although the precise aetiology is unknown, its usual occurrence after an infection suggests an immunological process. There is no specific test for brachial neuritis, and the diagnosis is one of exclusion with supportive evidence from nerve conduction studies, electromyography (EMG), and, in adults, changes in affected muscles on magnetic resonance imaging.

Finite-energy extension of a lattice glass model.

We extend a previously studied lattice model of particles with infinite repulsions to the case of finite-energy interactions. The phase diagram is studied using grand canonical Monte Carlo simulation. Simulations of dynamical phenomena are made using the canonical ensemble.

Competition between short-ranged attraction and short-ranged repulsion in crowded configurational space: aA lattice model description.

We describe a simple nearest-neighbor Ising model that is capable of supporting a gas, liquid, and crystal, in characteristic relationship to each other. As the parameters of the model are varied, one obtains characteristic patterns of phase behavior reminiscent of continuum systems where the range of the interaction is varied. The model also possesses dynamical arrest, and although we have not studied it in detail, these "transitions" appear to have a reasonable relationship to the phases and their transitions.

The nature of the colloidal 'glass' transition.

The dynamically arrested state of matter is discussed in the context of athermal systems, such as the hard sphere colloidal arrest. We believe that the singular dynamical behaviour near arrest expressed, for example, in how the diffusion constant vanishes may be 'universal', in a sense to be discussed in the paper. Based on this we argue the merits of studying the problem with simple lattice models.

Universality in lattice models of dynamic arrest: introduction of an order parameter.

We introduce an order parameter for dynamical arrest. Dynamically available volume (unoccupied space that is available to the motion of particles) is expressed as holes for the simple lattice models we study. Near the arrest transition the system is dilute in holes, so we expand dynamical quantities in a series of hole density.

Phase equilibria and glass transition in colloidal systems with short-ranged attractive interactions: application to protein crystallization.

We have studied a model of a complex fluid consisting of particles interacting through a hard-core and short-range attractive potential of both Yukawa and square-well form. Using a hybrid method, including a self-consistent and quite accurate approximation for the liquid integral equation in the case of the Yukawa fluid, perturbation theory to evaluate the crystal free energies, and mode-coupling theory of the glass transition, we determine both the equilibrium phase diagram of the system and the lines of equilibrium between the supercooled fluid and the glass phases. For these potentials, we study the phase diagrams for different values of the potential range, the ratio of the range of the interaction to the diameter of the repulsive core being the main control parameter.

Motor control in children and adults during a non-speech oral task.

Although decreased accuracy and increased variability of movement is a common developmental finding, the nature of these performance patterns remains poorly understood. The present study examined the accuracy and stability of several aspects of oral motor control. Specifically, we examined the control of absolute timing (temporal parameterization), absolute amplitude (amplitude parameterization), and relative timing and amplitude (generalized motor programs) in children and adults during a lip plus jaw opening and closing task.

The diagnostic potential of vibration arthrography.

The detection and interpretation of vibration emission from the locomotor system is a sensitive, noninvasive method for the objective study of human joints. The projects reviewed here aimed to identify and categorize vibration signals from various joints, chiefly the neonatal hip and the adult knee. Using a vibration detection and computerized analysis system, various studies have suggested that vibration arthrography will be a potentially valuable diagnostic service for the orthopedic surgeon of the 1990s.

A critical appraisal of auscultation of human joints.

Auscultation of human joints is a rarely practiced art. Many attempts have been made to develop a technique with objective parameters but none are sufficiently sensitive for clinical use. This article reviews the history of auscultation as applied to human joints.