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View article: Structural and functional biomarkers of visual dysfunction in MOG antibody-positive optic neuritis: a scoping review
Structural and functional biomarkers of visual dysfunction in MOG antibody-positive optic neuritis: a scoping review Open
Current clinical assessments may underestimate visual dysfunction in MOG-IgG ON. Prospective, longitudinal multimodal evaluation should be a key focus for future research, to identify the most sensitive biomarkers to be incorporated into r…
View article: The impact of autoimmune comorbidities on the onset attack recovery in adults with AQP4-NMOSD and MOGAD
The impact of autoimmune comorbidities on the onset attack recovery in adults with AQP4-NMOSD and MOGAD Open
Background Aquaporin-4 neuromyelitis optica spectrum disorder (AQP4-NMOSD) often coexists with other autoimmune diseases (AIDs), whereas such comorbidities are less common in myelin oligodendrocyte glycoprotein antibody disease (MOGAD). Th…
View article: The Cardiovascular Magnetic Resonance Phenotype of Lamin Heart Disease
The Cardiovascular Magnetic Resonance Phenotype of Lamin Heart Disease Open
The CMR phenotype of LMNA carriers with preserved left ventricular systolic function consists of longer T2, higher serum troponin levels, higher extracellular volume, and impaired strain. CMR-derived focal fibrosis and strain biomarkers ar…
View article: Smoking status and vascular risk factors as predictors of disability in AQP4-NMOSD and MOGAD
Smoking status and vascular risk factors as predictors of disability in AQP4-NMOSD and MOGAD Open
Background: Smoking and vascular risk factors (VRFs) are reported to have adverse effects in multiple sclerosis but data are limited in aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (AQP4-NMOSD) and myelin oligodendr…
View article: The cardiovascular magnetic resonance phenotype of lamin heart disease
The cardiovascular magnetic resonance phenotype of lamin heart disease Open
Background: Lamin (LMNA) heart disease is characterized by high mortality rate given its propensity to cause severe systolic dysfunction and life-threatening ventricular tachyarrhythmia. We explored its cardiovascular magnetic resonance (C…
View article: A pipeline for developing digital cardiac twins integrating cardiovascular magnetic resonance and electrocardiographic imaging: results from the MyoFit46 study
A pipeline for developing digital cardiac twins integrating cardiovascular magnetic resonance and electrocardiographic imaging: results from the MyoFit46 study Open
Background Personalised cardiovascular medicine uses multimodal screening and diagnostic tools, spanning from organ to tissue to molecular levels, to generate a complex and detailed patient phenotype. Cardiac digital twins are powerful too…
View article: BS19 Diagnostic 12-lead ECG recordings in the 3-Tesla CMR bore at rest and during adenosine stress perfusion- results from MyoFit46
BS19 Diagnostic 12-lead ECG recordings in the 3-Tesla CMR bore at rest and during adenosine stress perfusion- results from MyoFit46 Open
Background Current electrocardiographic (ECG) devices built into cardiovascular magnetic resonance (CMR) scanners have a narrow bandwidth (0.5–60Hz) and signals suffer from distortion due to magnetic field gradient artefact and magnetohydr…
View article: Machine learning algorithms to predict colistin-induced nephrotoxicity from electronic health records in patients with multidrug-resistant Gram-negative infection
Machine learning algorithms to predict colistin-induced nephrotoxicity from electronic health records in patients with multidrug-resistant Gram-negative infection Open
Machine learning techniques can be an early identification tool to predict colistin-induced nephrotoxicity. The observed interactions suggest a modification in dose adjustment guidelines. Future geographic and prospective validation studie…
View article: 19 Novel genotype-phenotype correlation in lamin heart disease uncovered using CMR 4D morphological shape analysis
19 Novel genotype-phenotype correlation in lamin heart disease uncovered using CMR 4D morphological shape analysis Open
Introduction Truncating (nonsense) variants of the lamin gene (LMNA) are predicted to be more aggressive than missense variants, as are variants upstream as opposed to downstream of its nuclear localization signal (NLS). However, whether i…
View article: Weight Management Interventions for Adults With Idiopathic Intracranial Hypertension
Weight Management Interventions for Adults With Idiopathic Intracranial Hypertension Open
Bariatric surgery should be considered for women with IIH and a body mass index (BMI) ≥35 kg/m2 since this had the most robust evidence for sustained weight management (grade A). A multicomponent lifestyle intervention (diet + physical act…
View article: Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy
Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy Open
BACKGROUND: In hypertrophic cardiomyopathy (HCM), myocyte disarray and microvascular disease (MVD) have been implicated in adverse events, and recent evidence suggests that these may occur early. As novel therapy provides promise for disea…
View article: Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death Open
Correction to: Nature Medicine. Published online 19 January 2023.
View article: 125 Post-genomic atrial and ventricular myocardial proteome of end-stage lamin heart disease: a prospective clinical trial
125 Post-genomic atrial and ventricular myocardial proteome of end-stage lamin heart disease: a prospective clinical trial Open
Background Lamins A/C (encoded by the LMNA gene) can lead to dilated cardiomyopathy (DCM). LMNA DCM to be ranked clinically as one of the most dreaded forms of DCM because of its high propensity for sudden cardiac death and advanced heart …
View article: Optimizing treatment for diabetic macular edema during cataract surgery
Optimizing treatment for diabetic macular edema during cataract surgery Open
Diabetic macular edema (DME) causes visual impairment in diabetic retinopathy (DR). Diabetes mellitus is a global epidemic and diabetic individuals are at risk of developing DR. Approximately 1 in 10 diabetic patients suffers from DME, whi…
View article: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death Open
Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death, providing a definitive or candidate geneti…
View article: The atrial and ventricular myocardial proteome of end-stage lamin heart disease.
The atrial and ventricular myocardial proteome of end-stage lamin heart disease. Open
Lamins A/C (encoded by LMNA gene) can lead to dilated cardiomyopathy (DCM). This pilot study sought to explore the postgenomic phenotype of end-stage lamin heart disease. Consecutive patients with end-stage lamin heart disease (LMNA-group,…
View article: Setting national research priorities for difficult-to-treat depression in the UK between 2021-2026
Setting national research priorities for difficult-to-treat depression in the UK between 2021-2026 Open
BACKGROUND: Difficult-to-treat depression (DTD) presents a substantial health care challenge, with around one-third of people diagnosed with a depressive episode in the UK finding that their symptoms persist following treatment. This study…
View article: <i>APOE ε</i>4 carriage associates with improved myocardial performance in older age
<i>APOE ε</i>4 carriage associates with improved myocardial performance in older age Open
Introduction Although APOE ε 4 allele carriage confers a risk of coronary disease, its persistence in human populations might be explained by certain survival advantages (antagonistic pleiotropy). Hypothesis Combining data from three Briti…
View article: Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome
Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome Open
Background and purpose Susac syndrome (SuS) is an inflammatory condition of the brain, eye and ear. Diagnosis can be challenging, and misdiagnosis is common. Methods This is a retrospective review of the medical records of 32 adult patient…
View article: Subclinical Hypertrophic Cardiomyopathy in Elite Athletes
Subclinical Hypertrophic Cardiomyopathy in Elite Athletes Open
Subclinical hypertrophic cardiomyopathy (HCM) is a phenotypic entity that has emerged from the increased use of cardiovascular magnetic resonance imaging in the evaluation and family screening of patients with HCM. We describe the case of …
View article: PAX-D: study protocol for a randomised placebo-controlled trial evaluating the efficacy and mechanism of pramipexole as add-on treatment for people with treatment resistant depression
PAX-D: study protocol for a randomised placebo-controlled trial evaluating the efficacy and mechanism of pramipexole as add-on treatment for people with treatment resistant depression Open
Introduction Clinical depression is usually treated in primary care with psychological therapies and antidepressant medication. However, when patients do not respond to at least two or more antidepressants within a depressive episode, they…