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Total 174 results found since Jan 2013.

Creatine chemical exchange saturation transfer (CEST) CMR imaging reveals myocardial early involvement in idiopathic inflammatory myopathy at 3T: feasibility and initial experience
ConclusionCreatine CEST mapping can detect early-stage heart involvement with negative LGE findings in IIM. Compared with T1 mapping, CEST provides increased sensitivity to ECV measurement, making it significantly better than T1, and a promising CMR sequence for screening subclinical myocardial damage.Key Points• IIM patients with potential or ongoing heart involvement, elevated ECV, and reduced Cr CEST values could provide valuable information.• ECV and Cr CEST values were closely related to elevated cTn-T.
Source: European Radiology - January 4, 2023 Category: Radiology Source Type: research

Anti-HMGCR myopathy: barriers to prompt recognition
We present two patients with atypical clinical or pathological features. A 45-year-old woman had an asymptomatic serum creatine kinase (CK) of ~10 000 IU/L and muscle biopsy showing minimal changes. She then developed slowly progressive proximal weakness, diagnosed as limb-girdle muscular dystrophy but with negative genetics. Twelve years later, now with severe proximal weakness, her MR scan of muscle showed diffuse asymmetrical fatty degeneration, with conspicuous hyperintense STIR signal abnormalities. HMGCR antibodies were positive and she partially improved with immunosuppression. The second patient developed slowly pr...
Source: Practical Neurology - December 23, 2022 Category: Neurology Authors: Andrea Barp Ashirwad Merve Sachit Shah Mahalekshmi Desikan Michael G Hanna Enrico Bugiardini Source Type: research

Predictors of Interstitial Lung Disease (ILD) in patients with Idiopathic Inflammatory Myopathy-associated (IIM)
Conclusions: Almost half of the overall IIM population develop ILD and showed lower CPK levels at diagnosis. Mechanic hands, anti Jo-1, antiMDA5, and anti-RO52 are the main independent predictors for the occurrence of ILD in patients with IIM.
Source: European Respiratory Journal - December 1, 2022 Category: Respiratory Medicine Authors: Cocconcelli, E., Zanatta, E., Bellani, S., Castelli, G., Petrarulo, S., Iaccarino, L., Spagnolo, P., Balestro, E., Balestro, E. Tags: 12.02 - ILD/DPLD of known origin Source Type: research

Computed tomography morphometric analysis of idiopathic inflammatory myopathy related interstitial lung disease correlates with forced vital capacity
This study investigated muscle mass in IIM, and its relationship to ILD disease severity.Methods: A retrospective review of 31 patients undergoing treatment at a single institution from 2015–2021 was performed. CT scans at diagnosis and on clinical follow up underwent morphomic analysis using CoreSlicer, a web-based tool which enables semi-automated segmentation of muscle and fat. Bilateral Erector Spinae Muscle (ESM) and Pectoralis Muscle (PM) cross-sectional areas (CSA) were calculated. All morphomic data were correlated with lung function including forced vital capacity (FVC) and biochemical markers.Results: ...
Source: European Respiratory Journal - December 1, 2022 Category: Respiratory Medicine Authors: O'Mahony, A., Henry, P., Coghlan, P., Crowley, C., Ryan, D., Moore, N., Maher, M., O'Connor, O. J., Henry, M. Tags: 12.02 - ILD/DPLD of known origin Source Type: research

Progressive Idiopathic Inflammatory Myopathy-associated Interstitial Lung Diseases (IIM-ILDs)
Conclusions: Serological and clinical features at diagnosis may predict progression in IIM-ILD patients. Anti-MDA5 antibodies, heliotropic rash, xerostomia and xerophthalmia are prevalent in progressive IIM-ILD population, but their role as independent predictors need to be further investigated.
Source: European Respiratory Journal - December 1, 2022 Category: Respiratory Medicine Authors: Cocconcelli, E., Zanatta, E., Giraudo, C., Castelli, G., Bernardinello, N., Fiorentu, G., Dartora, C., Iaccarino, L., Spagnolo, P., Balestro, E. Tags: 12.02 - ILD/DPLD of known origin Source Type: research

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
AbstractDNAJ/HSP40 co-chaperones are integral to the chaperone network, bind client proteins and recruit them to HSP70 for folding. We performed exome sequencing on patients with a presumed hereditary muscle disease and no genetic diagnosis. This identified four individuals from three unrelated families carrying an unreported homozygous stop gain (c.856A  >  T; p.Lys286Ter), or homozygous missense variants (c.74G >  A; p.Arg25Gln and c.785 T >  C; p.Leu262Ser) inDNAJB4. Affected patients presented with axial rigidity and early respiratory failure requiring ventilator support between the 1st and 4th de...
Source: Acta Neuropathologica - October 20, 2022 Category: Neurology Source Type: research

FP.40 A cross-sectional study on LAMA2-related muscular dystrophy and SELENON-related myopathy, the first results of the LAST STRONG Study
LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related myopathy (SELENON-RM) are inherited myopathies characterized by slowly progressive proximal muscle weakness, spinal rigidity and respiratory insufficiency. Here we present baseline features of patients with LAMA2-MD and SELENON-RM in a 1,5-year natural history study to select outcome measures and reach trial readiness; the LAST STRONG study. The protocol consisted of neurological examinations, functional measurements, questionnaires, muscle ultrasound, pulmonary function tests, and Dual Energy Xray absorptiometry (DEXA)-scan.
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: K. Bouman, J. Groothuis, J. Doorduin, N. van Alfen, F. Udink ten Cate, F. van den Heuvel, R. Nijveldt, A. Dittrich, J. Draaisma, M. Janssen, B. van Engelen, C. Erasmus, N. Voermans Source Type: research

Immune checkpoint inhibitor therapy in a patient with small cell lung cancer and anti ‐transcriptional intermediary factor 1‐γ antibody‐positive dermatomyositis: A case report
Autoimmune diseases (ADs) such as dermatomyositis (DM) are closely related to cancers. Although there are concerns that immune checkpoint inhibitors (ICIs) may cause immune-related adverse events or exacerbate ADs, clinicians should consider ICIs for SCLC patients with DM because the treatment of malignancy by ICIs improves the symptoms of paraneoplastic AD. AbstractAutoimmune diseases (ADs) are closely related to cancers; 30% of dermatomyositis (DM) cases are associated with malignancy. In lung cancer patients accompanied by DM, the most frequent cancer type is small cell lung cancer (SCLC). Anti-transcriptional intermedi...
Source: Thoracic Cancer - August 19, 2022 Category: Cancer & Oncology Authors: Yoonjoo Kim, Dongil Park, Song ‐Yi Choi, Chaeuk Chung Tags: CASE REPORT Source Type: research

064 Imilimumab/nivolumab induced paraspinal myositis causing dysphagia
We present a case of Imilimumab/Nivolumab-induced posterior paraspinal muscles myositis. A 78 year-old man with metastatic melanoma with hepatic, osseous, and lymph node spread had 3 weeks of dysphagia to solids but not liquids, 2 months after his last cycle of immunotherapy. He complained of hoarse voice, weight loss, unsteadiness and falls. Examination revealed symmetrical, normal palatal rise without tongue wasting or fasciculation. Speech was hypernasal with poor pharyngeal phonation. There was no fatigue nor ptosis nor extra-ocular motor weakness. Small muscle hand wasting was modest in keeping with general cachexia. ...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Warner, G. Tags: Poster Presentations Source Type: research

The role of multimodality imaging in patients with heart failure with reduced and preserved ejection fraction
Purpose of review The burden of clinical heart failure, both heart failure with a reduced ejection fraction (HFrEF) and with a preserved ejection fraction (HFpEF), continues to increase both nationally and globally. This review summarizes the expanding role of multimodality imaging techniques in the evaluation and management these patients. Recent findings Echocardiographic assessment for heart failure continues to expand and should include a robust hemodynamic and strain assessment. Nuclear techniques have also continued to evolve and advances including computed tomography attenuation correction for single phot...
Source: Current Opinion in Cardiology - May 1, 2022 Category: Cardiology Tags: HEART FAILURE: Edited by Jerry Estep Source Type: research

Idiopathic inflammatory myopathies: CT characteristics of interstitial lung disease and their association(s) with myositis-specific autoantibodies
ConclusionDespite the observed IIM heterogeneity, CT-scan criteria enabled ILD assignment to the three clusters, which were associated with MSAs. Radiologist identification of those clusters could facilitate diagnostic screening and therapeutics.Summary statementInterstitial lung disease in patients with idiopathic inflammatory myopathy could be classified into three clusters according to CT-scan criteria, and these clusters were significantly associated with myositis-specific autoantibodies.Key Points•Cluster analysis discerned three homogeneous groups of interstitial lung disease (ILD) for which cysts, consolidations, ...
Source: European Radiology - April 26, 2022 Category: Radiology Source Type: research

Fluorine-18 labeled fluorodeoxyglucose positron emission tomography/computed tomography used in diagnosing connective tissue diseases in fever of unknown origin/inflammatory of unknown origin patients
ConclusionFDG PET/CT could reveal inflammatory lesions in organs and tissues that reflect the clinical characteristics in different CTDs, thus providing an objective evidence for differential diagnosis, classification, and treatment decision of these diseases.Key Points• FDG PET/CT is a useful tool for differential diagnosing connective tissue diseases among patients with fever of unknown origin/inflammatory of unknown origin.
Source: Clinical Rheumatology - February 28, 2022 Category: Rheumatology Source Type: research