Does adherence to exacerbation action plans matter? Insights from two COPD self-management studies.

Introduction: Patients' adherence is essential for COPD self-management, as beneficial effects can only be expected in adherent patients. We explored associations between patients' adherence to COPD exacerbation action plans and health outcomes.

Materials And Methods: Pooled COPD self-treatment intervention group data from two RCTs were analysed, only including patients who had ≥1 COPD exacerbation or started ≥1 course of oral corticosteroids over one-year follow-up.

Invasive procedures and surgery following etranacogene dezaparvovec gene therapy in people with hemophilia B.

Background: Little information regarding the management of invasive procedures in people with hemophilia B (HB) after undergoing gene therapy is available. Here, we report the management of invasive procedures in people with severe or moderately severe HB who had previously been treated with etranacogene dezaparvovec in the phase 2b and phase 3 Health Outcomes with Padua Gene; Evaluation in Hemophilia B clinical trials (NCT03489291 and NCT03569891).

Objectives: The objective of this study was to describe the use of exogenous FIX, endogenous FIX activity prior to invasive procedures, and peri- and postoperative bleeds in participants who underwent invasive procedures after receiving etranacogene dezaparvovec gene therapy.

Etranacogene dezaparvovec gene therapy for haemophilia B (HOPE-B): 24-month post-hoc efficacy and safety data from a single-arm, multicentre, phase 3 trial.

Background: Etranacogene dezaparvovec, the first gene therapy approved for haemophilia B treatment, was shown to be superior to treatment with continuous prophylactic factor IX in terms of bleeding protection 18 months after gene therapy in a phase 3 trial. We report post-hoc 24-month efficacy and safety data from this trial to evaluate the longer-term effects of etranacogene dezaparvovec in individuals with haemophilia B.

Methods: The phase 3 HOPE-B trial enrolled males aged 18 years or older with inherited haemophilia B, classified as severe (plasma factor IX activity level <1%) or moderately severe (plasma factor IX activity level ≥1% and ≤2%), with a severe bleeding phenotype and who were on stable continuous factor IX prophylaxis.

SARS-CoV-2 infection causes dopaminergic neuron senescence.

COVID-19 patients commonly present with signs of central nervous system and/or peripheral nervous system dysfunction. Here, we show that midbrain dopamine (DA) neurons derived from human pluripotent stem cells (hPSCs) are selectively susceptible and permissive to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. SARS-CoV-2 infection of DA neurons triggers an inflammatory and cellular senescence response.

Optic nerve thickening on high-spatial-resolution MRI predicts early-stage postlaminar optic nerve invasion in retinoblastoma.

Objectives: To assess the diagnostic accuracy of nerve thickening on MRI to predict early-stage postlaminar optic nerve invasion (PLONI) in retinoblastoma. Furthermore, this study aimed to incorporate measurements into a multiparametric model for radiological determination of PLONI.

Methods: In this retrospective multicenter case-control study, high-spatial-resolution 3D T2-weighted MR images were used to measure the distal optic nerve.

Exploring Patterns of COPD Exacerbations and Comorbid Flare-Ups.

Background: Comorbidities are known to complicate disease management in patients with Chronic Obstructive Pulmonary Disease (COPD). This is partly due to lack of insight into the interplay of acute exacerbations of COPD (AECOPD) and comorbid flare-ups. This study aimed to explore patterns of AECOPDs and comorbid flare-ups.

Correlation of gene expression with magnetic resonance imaging features of retinoblastoma: a multi-center radiogenomics validation study.

Objectives: To validate associations between MRI features and gene expression profiles in retinoblastoma, thereby evaluating the repeatability of radiogenomics in retinoblastoma.

Methods: In this retrospective multicenter cohort study, retinoblastoma patients with gene expression data and MRI were included. MRI features (scored blinded for clinical data) and matched genome-wide gene expression data were used to perform radiogenomic analysis.

Evaluation of Exacerbation and Symptom-Free Time in Patients with COPD.

In clinical practice, clinicians mainly focus on Chronic Obstructive Pulmonary Disease (COPD) exacerbations and symptoms, while patients may prefer to evaluate periods free of COPD exacerbations and deteriorated symptoms. The latter would suit the positive health approach that centralizes people and their beliefs. We aimed to identify patient characteristics and health outcomes relating to: 1) COPD exacerbation-free days; 2) days with no more symptoms than usual; and 3) combined COPD exacerbation and comorbid flare-up-free days (i.

Clotting factor activity levels and bleeding risk in people with haemophilia playing sports.

Background: Improved treatment options for people with haemophilia (PWH) have increased the possibilities for sports participation, but the risk of sports-induced bleeding (SIB) is still considered considerable by many.

Aim: To assess sports associated injury- and bleeding risk in PWH and to assess clotting levels associated with safe sports participation.

Methods: Sports injuries and SIBs were prospectively collected for 12 months in PWH aged 6-49 without inhibitors playing sports at least once weekly.

MRI Features for Identifying -amplified Wild-type Retinoblastoma.

Background -amplified wild-type () retinoblastoma is a rare but clinically important subtype of retinoblastoma due to its aggressive character and relative resistance to typical therapeutic approaches. Because biopsy is not indicated in retinoblastoma, specific MRI features might be valuable to identify children with this genetic subtype. Purpose To define the MRI phenotype of retinoblastoma and evaluate the ability of qualitative MRI features to help identify this specific genetic subtype.

Cerebellar presence of immune cells in patients with neuro-coeliac disease.

Although various neurodegenerative disorders have been associated with coeliac disease (CD), the underlying neuropathological link between these brain and gut diseases remains unclear. We postulated that the neuronal damage sporadically observed in CD patients is immune-mediated. Our aim was to determine if the loss of neurons, especially Purkinje cells, coincides with microglia activation and T- and B-cell infiltration in the cerebellum of patients with CD and a concomitant idiopathic neurological disease affecting the cerebellum (NeuroCD).

Can motor proficiency testing predict sports injuries and sports-induced bleeds in people with haemophilia?

Introduction: Predicting the risk of sports injuries and sports-induced bleeds (SIBs) in people with haemophilia (PWH) may support clinical counselling.

Aim: To assess the association between motor proficiency testing and sports injuries and SIBs and to identify a specific set of tests for predicting injury risk in PWH.

Methods: In a single centre, prospective study male PWH aged 6-49 playing sports ≥1x/week were tested for running speed and agility, balance, strength and endurance.

Patient and Health Care Provider Perspectives on Potential Preventability of Hospital Admission for Acute Exacerbation of Chronic Obstructive Pulmonary Disease: A Qualitative Study.

Purpose: Chronic obstructive pulmonary disease (COPD) is a highly prevalent chronic disease partly characterised by the occurrence of acute exacerbations (AECOPD). The need for hospital admissions for COPD exacerbations could theoretically be decreased through timely and appropriate outpatient care or self-management. The aim of this study is to explore and compare patients' and health care providers' (HCP) perspectives on the potential preventability of COPD hospitalisations and to identify strategies to prevent unnecessary hospitalisations.

Applicability of the European Society of Cardiology Guidelines on the management of acute coronary syndromes to older people with haemophilia A - A modified Delphi consensus by the ADVANCE Working Group.

Introduction: As people with haemophilia (PWH) receive better treatment and live longer they are more likely to encounter cardiovascular disease (CVD) and other comorbidities. ESC guidelines for the acute management of patients presenting with acute coronary syndrome (ACS) are based on the non-haemophilia population.

Aim: To review the guidelines and propose relevant adaptations for PWHA without inhibitors who are treated with prophylaxis and present with ACS.

Liver-related complications before and after successful treatment of chronic hepatitis C virus infection in people with inherited bleeding disorders.

Introduction: With availability of direct-acting antivirals (DAA), most persons with inherited bleeding disorders are currently cured of hepatitis C virus (HCV) infection. The risk of liver-related complications following HCV cure has not been reported for this population.

Aim: Reporting liver-related complications during long-term chronic HCV infection and following sustained virological response (SVR) in this population.

[Routine histopathological evaluation after appendectomy not necessary].

The article seeks to supply evidence-based data on the usefulness of routine histopathological evaluation of appendectomy specimens taken for non-oncological purposes. Reasons to perform histology are: (1) old-fashioned attitude that everything worth excising is worthy of histological scrutiny, difficult to maintain in days of cost constraint and ever-improving other techniques to assess such questions; (2) quality assurance of surgical indications; (3) patient safety/security reasons, and (4) lack of other techniques to address diagnostical questions. The authors present a rational evaluation of the pros and cons of histological evaluation, arguing that cost reduction, workload reduction for pathologists and prevention of ineffective follow-up measures will outweigh eventual negative effects.

Immunopathology of the optic nerve in multiple sclerosis.

Optic neuritis, a primary clinical manifestation commonly observed in multiple sclerosis (MS), is a major factor leading to permanent loss of vision. Despite decreased vision (optic neuritis), diplopia, and nystagmus, the immunopathology of the optic nerve in MS is unclear. Here, we have characterized the optic nerve pathology in a large cohort of MS cases (n = 154), focusing on the immune responses in a sub-cohort of MS (n = 30) and control (n = 6) cases.

Magnetic Resonance Imaging Can Reliably Differentiate Optic Nerve Inflammation from Tumor Invasion in Retinoblastoma with Orbital Cellulitis.

Purpose: To investigate the prevalence and magnetic resonance imaging (MRI) phenotype of retinoblastoma-associated orbital cellulitis. Additionally, this study aimed to identify postlaminar optic nerve enhancement (PLONE) patterns differentiating between inflammation and tumor invasion.

Design: A monocenter cohort study assessed the prevalence of orbital cellulitis features on MRI in retinoblastoma patients.

ACE2 Protein Expression During Childhood, Adolescence, and Early Adulthood.

. Angiotensin-converting enzyme 2 is the entry receptor for SARS-CoV and SARS-CoV-2. Variations in ACE2 expression might explain age-related symptomatology of COVID-19, that is, more gastro-intestinal symptoms and less pulmonary complaints.