2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.

Valosin-containing protein (VCP/p97) is a ubiquitously expressed AAA+ ATPase associated with numerous protein-protein interactions and critical cellular functions including protein degradation and clearance, mitochondrial homeostasis, DNA repair and replication, cell cycle regulation, endoplasmic reticulum-associated degradation, and lysosomal functions including autophagy and apoptosis. Autosomal-dominant missense mutations in the VCP gene may result in VCP-associated multisystem proteinopathy (VCP-MSP), a rare degenerative disorder linked to heterogeneous phenotypes including inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and frontotemporal dementia (FTD) or IBMPFD, amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), parkinsonism, Charcot-Marie Tooth disease (CMT), and spastic paraplegia. The complexity of VCP-MSP makes collaboration among stakeholders essential and necessitates a multi-disciplinary approach.

Comparison of Two Questionnaires for Sleep-Related Symptoms in Pediatric and Adult Patients With Myotonic Dystrophy Type 1.

Introduction/aims: Sleep-related symptoms in myotonic dystrophy type 1 (DM1) are often unrecognized. This study aimed to integrate two sleep questionnaires into an outpatient clinic for assessing sleep disturbances in DM1 patients, while also developing a pediatric version of one questionnaire.

Methods: We administered two sleep questionnaires to adult and pediatric patients with DM1: (1) the Epworth Sleepiness Scale (ESS), which assesses the likelihood of falling asleep under specific circumstances; and (2) the Functional Outcomes of Sleep Questionnaire-10 (FOSQ-10), which evaluates the impact of daytime sleepiness on activities of daily living.

Improving the physical health of overweight/obese people suffering from severe mental disorders: What is the role of antipsychotic drugs and of lifestyle psychosocial interventions?

People with severe mental disorders experience premature mortality compared with the general population. Several factors contribute to the mortality gap, including the adoption of unhealthy lifestyle behaviours, poor screening for physical illnesses, difficulties in accessing healthcare facilities, specific clinical features of mental disorders and some pharmacological treatment such as antipsychotic medications with serious metabolic side effects. In the present study, carried out in the framework of the LIFESTYLE trial, a funded nationwide multicentric study, we aimed to assess the impact of different antipsychotics in mediating the effectiveness of psychosocial intervention on healthy lifestyle behaviours.

Concurrent nodular lymphocytic myositis and myasthenia gravis. A case report.

Localized painful nodules associated with focal myositis have been previously documented, either as isolated occurrences or in conjunction with systemic illnesses, such as polymyositis [1-4]. These nodules typically manifest over the course of 2-8 weeks and exhibit histological features consistent with inflammatory myositis. Here we present a unique case of a patient with a history of myasthenia gravis, who experienced exacerbation of myasthenic symptoms, accompanied by the development of palpable, tender nodules on her thighs and proximal weakness.

Comparative physiological effects of antipsychotic drugs in children and young people: a network meta-analysis.

Background: The degree of physiological responses to individual antipsychotic drugs is unclear in children and adolescents. With network meta-analysis, we aimed to investigate the effects of various antipsychotic medications on physiological variables in children and adolescents with neuropsychiatric and neurodevelopmental conditions.

Methods: For this network meta-analysis, we searched Medline, EMBASE, PsycINFO, Web of Science, and Scopus from database inception until Dec 22, 2023, and included randomised controlled trials comparing antipsychotics with placebo in children or adolescents younger than 18 years with any neuropsychiatric and neurodevelopmental condition.