-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.

Background: Myosin heavy chain 7 ()-related myopathies (-RMs) are a group of muscle disorders linked to pathogenic variants in the gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement.

Methods: We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57 patients.

Arterial embolization for massive bleeding from a locally advanced breast tumor.

Advances in breast cancer treatment have markedly reduced the incidence of massive bleeding, yet severe hemorrhage remains a critical issue in locally advanced or metastatic cases. Traditional management strategies often prove inadequate for significant bleeding, highlighting the need for alternative interventions. We detail the management of a 64-year-old patient with a neglected locally advanced breast tumor, leading to life-threatening hemorrhage.

The multifaceted musculoskeletal hydatid disease.

Musculoskeletal hydatid disease is rare and can be located anywhere but most commonly the bone and muscles of the spine, pelvis, then the lower limbs. Imaging is essential for its diagnosis, performing the pre-therapeutic assessment, guiding possible percutaneous treatments, and providing post-therapeutic follow-up. Musculoskeletal hydatidosis can take several forms that may suggest other infections and tumors or pseudotumors.

The Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.

Filamin C-related disorders include myopathies and cardiomyopathies linked to variants in the gene. Filamin C belongs to a family of actin-binding proteins involved in sarcomere stability. This study investigates the pathogenic impact of the c.

Infectious sacroiliitis: MRI- and CT-based assessment of disease extent, complications, and anatomic correlation.

Objective: To describe the frequency of MR and CT features of infectious sacroiliitis (ISI) and assess its extent and complications MATERIALS AND METHODS: This retrospective study included patients with ISI who were evaluated between 2008 and 2021 in a single center. Two radiologists reviewed MRI and CT images to determine the anatomical distribution (unilateral/bilateral, iliac/sacral bone, proximal/middle/distal), severity (bone marrow edema [BME]/periostitis/erosions), concurrent infection (vertebral/nonvertebral), and complications (abscess/probable adjacent osteomyelitis/cavitation/devitalized areas/sequestrum/pelvic venous thrombosis) of ISI. Interobserver reproducibility was assessed.

An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.

Early onset myopathies are a clinically and histologically heterogeneous monogenic diseases linked to approximately 90 genes. Molecular diagnosis is challenging, especially in patients with a mild phenotype. We describe a 26-year-old man with neonatal hypotonia, motor delay and seizures during infancy, and non-progressive, mild muscular weakness in adulthood.

Understanding a mass in the paraspinal region: an anatomical approach.

The paraspinal region encompasses all tissues around the spine. The regional anatomy is complex and includes the paraspinal muscles, spinal nerves, sympathetic chains, Batson's venous plexus and a rich arterial network. A wide variety of pathologies can occur in the paraspinal region, originating either from paraspinal soft tissues or the vertebral column.

Elevation of brain ADC (apparent diffusion coefficient) in HIV-associated neurocognitive disorders and evolution after treatment: A pilot study.

Background: Thirty to 50% of HIV-infected patients develop HIV-Associated Neurocognitive Disorders (HAND) despite virological control. The previously published Neuro+3 study showed their neurocognitive status can be improved by intensifying antiviral therapy. Our study is a part of the Neuro3+ study and aims to study apparent diffusion coefficient (ADC) as a biomarker for neurological improvement.

Heterotopic ossification and COVID 19: Imaging analysis of ten consecutive cases.

Purpose: Heterotopic ossification (HO) is defined by the formation of mature lamellar bone in periarticular soft tissue due to prolonged immobility. This study aimed to explore the imaging features of HOs in immobilized COVID-19 patients compared to other causes previously described in the literature.

Method: This retrospective single centre study included patients with severe COVID-19 hospitalized in intensive care unit (ICU) with mechanical ventilation and affected by HOs between March 2020 and December 2021.

Usefulness of Longitudinal Strain Adjusted to Regional Thickness in Hypertrophic Cardiomyopathy.

Background. We assessed the usefulness of a longitudinal strain adjusted to regional thickness in hypertrophic cardiomyopathy (HCM). Indeed, with conventional software, the width of the region of interest (ROI) is the same over the entire myocardial wall, wherein the software analyzes only partially the left ventricular (LV) hypertrophic segments.

Macroglossia: A potentially severe complication of late-onset Pompe disease.

Background: Pompe disease is a rare neuromuscular disorder caused by a deficiency of a lysosomal enzyme, acid α-glucosidase. Macroglossia is a classic clinical sign of several inherited myopathies and has also been reported to occur progressively in late-onset Pompe disease (LOPD).

Methods: We describe patients with LOPD and macroglossia included in the French national Pompe disease registry.

Comparison of magnetic resonance imaging and computed tomography for bone assessment of neurogenic heterotopic ossification of the hip: a preliminary study.

Background: Neurogenic heterotopic ossification (NHO) is a frequent complication, often involving the hip. The functional impact may require surgical management and pre-surgical imaging assessment is necessary, usually by computed tomography (CT). We aimed to compare the performances of magnetic resonance imaging (MRI) and CT for bone assessment on pre-surgical imaging of the heterotopic ossifications and their features in NHO of the hip.

Beyond the sacro-Iliac joints: Vertebral involvement in axial spondylarthritis.

Imaging plays a central role in the diagnosis of axial spondylarthritis (axSpA). Commonly the sacroiliac joints are involved but vertebral involvement can occur in isolation in 1 out of 4 patients. Recognizing vertebral involvement patterns in axSpA can help establishing a diagnosis early and initiate therapy before irreversible changes have occurred.

Whole-body muscle MRI in McArdle disease.

This study describes muscle involvement on whole-body MRI (WB-MRI) scans at different stages of McArdle disease. WB-MRI was performed on fifteen genetically confirmed McArdle disease patients between ages 25 to 80. The degree of fatty substitution was scored for 60 muscles using Mercuri's classification.

Ruptured Intercostal Artery Aneurysm with Radiculomedullary Branch Downstream Treated with Endovascular Stenting.

Intercostal artery aneurysms are extremely rare, and could be associated with aortic coarctation, systemic diseases like neurofibromatosis, or more rarely Marfan syndrome. They could be life-threatening when ruptured, leading to hemothorax or mediastinal hematoma. Endovascular management before or after rupture of intercostal aneurysms, should be considered.

Contribution of Interventional Radiologist in the Management of Pseudoaneurysm and Neck Hemorrhages in COVID-19 patients.

Patients with severe coronavirus disease 2019 (COVID-19) may have endothelial inflammation, pseudoaneurysm, and an increasing risk of bleeding, especially during surgical procedures. In this article, we reported 2 cases of COVID-19 patients with neck vascular lesions. The first patient had pseudoaneurysm of the cricothyroid artery, which was treated by percutaneous glue injection through ultrasonography guidance.

Determining extent of COVID-19 pneumonia on CT based on biological variables.

Introduction: Covid-19 pneumonia CT extent correlates well with outcome including mortality. However, CT is not widely available in many countries. This study aimed to explore the relationship between Covid-19 pneumonia CT extent and blood tests variations.