Imaging of intramedullary tumours of the spinal cord.

Intramedullary tumours (IMTs) are the least common neoplasms of the spinal canal. The majority of them are ependymomas and astrocytomas, the third commonest is haemangioblastoma, while other tumours of the spinal cord are relatively rare. This review presents on update on the imaging of spinal cord tumours.

A machine learning approach to stratify patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders according to disorders of gut brain interaction, comorbidities and quality of life.

Background: A high prevalence of disorders of gut-brain interaction (DGBI) exist in patients with hypermobile Ehlers-Danlos Syndrome (hEDS) and hypermobility spectrum disorders (HSD). However, it is unknown if clusters of hEDS/HSD patients exist which overlap with different DGBIs and whether this overlap influences presence of comorbidities and quality of life. We aimed to study these knowledge gaps.

Drugs in focus: Botulinum toxin in the therapy of gastrointestinal disorders in children.

What Is Known: Botulinum toxin (BoNT) causes muscle relaxation by inhibiting acetylcholine release from presynaptic motor neurons at the neuromuscular junction.

What Is New: In children with achalasia, BoNT can be considered only in patients in whom rapid weight gain is important to improve surgical outcomes. BoNT has been suggested for treating cricopharyngeal achalasia and delayed gastric emptying.

Economics of hematopoietic stem cell transplant in immune-mediated neurologic autoimmune diseases.

Autologous hematopoietic stem cell transplantation (AHSCT) is a therapeutic procedure for autoimmune diseases which suppresses inflammation and resets the immune system, thereby halting disease activity and disability progression in treatment-resistant patients. This chapter reviews existing guidelines and health economic evaluations of AHSCT for multiple sclerosis (MS) and presents a cost-utility analysis from the UK NHS and personal social services perspective comparing AHSCT with disease-modifying therapies (DMTs) in patients with highly active relapsing-remitting MS (RRMS) based on the only published randomized controlled trial, "MIST," in this population. Over a 5-year time horizon, AHSCT was dominant (more effective and less costly) over the DMTs in MIST.

Hematopoietic stem cell transplantation (HSCT) for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): Is it CIDP?

Autologous hematopoietic stem cell transplantation (HSCT) is associated with 5-year treatment-free remissions in approximately 80% of patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) who failed or were dependent on intravenous immunoglobulin and or plasmapheresis. Autologous HSCT was associated with significant improvement in strength, independent ambulation, quality of life, nerve conduction velocity, and compound muscle action potential amplitude. The results of HSCT are dependent on proper patient selection, i.

Initial combination therapy with macitentan and tadalafil in patients with pulmonary arterial hypertension, with and without cardiac comorbidities.

Aims: According to current guidelines, initial monotherapy should be considered for pulmonary arterial hypertension (PAH) patients with cardiopulmonary comorbidities. This analysis of combined data from the TRITON and REPAIR clinical trials, assesses efficacy and safety of initial double combination therapy in patients without vs. with 1-2 cardiac comorbidities.

Patient-reported outcomes in HSCT for autoimmune diseases: Considerations on behalf of the EBMT ADWP, PAC, and Nurses Group.

Background: Over the last 3 decades, hematopoietic stem cell transplantation (HSCT) has been successfully used to treat severe and refractory autoimmune diseases (AIDs). A multidisciplinary appraisal of potential benefits and risks by disease and transplant specialists is essential to determine individual suitability for HSCT.

Objective: Our aim was to observe that patient-reported outcomes (PROs) and health-related quality of life instruments can capture the unique patient perspective on disease burden and impact of treatment.

Comparison of cardiac magnetic resonance imaging, functional and haemodynamic variables in pulmonary arterial hypertension: insights from REPAIR.

Background: Measures that can detect large treatment effects are important for monitoring therapeutic effectiveness. The 2022 European Society of Cardiology/European Respiratory Society guidelines highlight the importance of imaging in monitoring disease status and treatment response in pulmonary arterial hypertension (PAH). Are the standardised treatment effect sizes (STES) of cardiac magnetic resonance imaging (cMRI) comparable with functional and haemodynamic variables?

Methods: REPAIR (ClinicalTrials.

Effect of Macitentan in Pulmonary Arterial Hypertension and the Relationship Between Echocardiography and cMRI Variables: REPAIR Echocardiography Sub-study Results.

Introduction: The aim of this sub-study was to evaluate the relationship between echocardiography (echo) and cardiac magnetic resonance imaging (cMRI) variables and to utilize echo to assess the effect of macitentan on right ventricle (RV) structure and function.

Methods: REPAIR (NCT02310672) was a prospective, multicenter, single-arm, open-label, 52-week, phase 4 study in pulmonary arterial hypertension (PAH) patients, which investigated the effect of macitentan 10 mg as monotherapy, or in combination with a phosphodiesterase 5 inhibitor, on RV structure, function, and hemodynamics using cMRI and right heart catheterization. In this sub-study, patients were also assessed by echo at screening and at weeks 26 and/or 52.

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat.

Are we missing pancreatic exocrine insufficiency in 'at-risk' groups? Prospective assessment of the current practice and yield of faecal elastase testing in patients with diabetes mellitus, HIV and/or high alcohol intake.

There is cumulative evidence that pancreatic exocrine insufficiency (PEI) is under-recognised and can occur in patients with 'at-risk' conditions. Thus, we aimed to assess the current practice and yield of requesting faecal elastase (FEL-1), an indicator of PEI, in patients with 'at-risk' conditions. We prospectively recruited patients attending secondary care clinics with diabetes mellitus (DM), people living with HIV (PLHIV) and inpatients admitted to hospital with high alcohol intake (HAI).

A feasibility and pilot additive randomised control trial of attachment security priming during behavioural activation.

Background: There is some initial evidence that attachment security priming may be useful for promoting engagement in therapy and improving clinical outcomes.

Aims: This study sought to assess whether outcomes for behavioural activation delivered in routine care could be enhanced via the addition of attachment security priming.

Method: This was a pragmatic two-arm feasibility and pilot additive randomised control trial.

Clinical impact of videocapsule endoscopy and device-assisted enteroscopy in non-bleeding small bowel lesions.

Background: Videocapsule endoscopy (VCE) and double-balloon enteroscopy (DBE) are part of the diagnostic and therapeutic work-up of indications other than suspected small bowel bleeding (OSBB). The literature is currently lacking studies describing these procedures in this particular setting.

Objectives: We assessed the clinical impact of VCE and DBE in a large monocentric cohort of OSBB patients, as compared to a control group of suspected small bowel bleeding (SSBB) patients who underwent enteroscopy over the same period.

Can CANVAS due to biallelic expansions present with pure ataxia?

Background: Biallelic expansion of AAGGG in the replication factor complex subunit 1 () was identified as a major cause of cerebellar ataxia, neuropathy (sensory ganglionopathy, or SG) and vestibular areflexia syndrome (CANVAS). We wanted to clarify if expansions can present with pure ataxia and if such expansions could be responsible for some cases where an alternative diagnosis had been made.

Methods: We identified patients with a combination of ataxia and SG and no other cause found, patients where an alternative diagnosis had been made, and patients with pure ataxia.

Cognitive-behavioural versus cognitive-analytic guided self-help for mild-to-moderate anxiety: a pragmatic, randomised patient preference trial.

Background: Guided self-help (GSH) for anxiety is widely implemented in primary care services because of service efficiency gains, but there is also evidence of poor acceptability, low effectiveness and relapse.

Aims: The aim was to compare preferences for, acceptability and efficacy of cognitive-behavioural guided self-help (CBT-GSH) versus cognitive-analytic guided self-help (CAT-GSH).

Method: This was a pragmatic, randomised, patient preference trial (Clinical trials identifier: NCT03730532).

The national prevalence of disorders of gut brain interaction in the United Kingdom in comparison to their worldwide prevalence: Results from the Rome foundation global epidemiology study.

Background: There are minimal epidemiological data comparing the burden of disorders of gut brain interaction (DGBI) in the UK with other countries. We compared the prevalence of DGBI in the UK with other countries that participated in the Rome Foundation Global Epidemiology Study (RFGES) online.

Methods: Participants from 26 countries completed the RFGES survey online including the Rome IV diagnostic questionnaire and an in-depth supplemental questionnaire with questions about dietary habits.

Genetically determined cardiomyopathies at autopsy: the pivotal role of the pathologist in establishing the diagnosis and guiding family screening.

Cardiomyopathies (CMP) comprise a heterogenous group of diseases affecting primarily the myocardium, either genetic and/or acquired in origin. While many classification systems have been proposed in the clinical setting, there is no internationally agreed pathological consensus concerning the diagnostic approach to inherited CMP at autopsy. A document on autopsy diagnosis of CMP is needed because the complexity of the pathologic backgrounds requires proper insight and expertise.

Key demographics and psychological skills associated with adjustment to progressive Multiple Sclerosis early in the diagnosis.

Background/purpose: Being diagnosed with a progressive type of multiple sclerosis (MS) has been associated with worse psychological outcomes compared to relapsing-remitting type. Previous studies of adjustment to MS have primarily focused on relapsing-remitting type MS. The present study aims to examine psychological adjustment for people newly diagnosed with progressive multiple sclerosis.

On the use of wearable sensors as mobility biomarkers in the marketing authorization of new drugs: A regulatory perspective.

The loss of mobility is a common trait in multiple health conditions (e.g., Parkinson's disease) and is associated with reduced quality of life.