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.