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Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C > T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient
Mitochondrial trifunctional protein (MTP) deficiency is an autosomal recessive disorder caused by impaired metabolism of long-chain fatty acids (LCFAs). Childhood and late-onset MTP deficiency is characterized by myopathy/rhabdomyolysis and peripheral neuropathy; however, the features are unclear. A 44-year-old woman was clinically diagnosed with Charcot-Marie-Tooth disease at 3 years of age due to gait disturbance. Her activity and voluntary speech gradually decreased in her 40s. Cognitive function was evaluated and brain imaging tests were performed. The Mini-Mental State Examination and frontal assessment battery scores...
Source: Frontiers in Neurology - June 13, 2023 Category: Neurology 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

Idiopathic Inflammatory Myopathy-associated Interstitial Lung Disease (IIM-ILD): does radiologic features matter?
Conclusions: Ground-glass-opacities is the prevalent HRCT pattern and is associated to normal lung volume. Fibrotic changes are present at presentation in over a quarter of the population. Consolidation needs a special attention being associated to muscle injury and anticipating the diagnosis of IIM.
Source: European Respiratory Journal - December 1, 2022 Category: Respiratory Medicine Authors: Castelli, G., Cocconcelli, E., Zanatta, E., Giraudo, C., Bernardinello, N., Dartora, C., Iaccarino, L., Spagnolo, P., Balestro, E. Tags: 12.04 - Rare ILD/DPLD Source Type: research

A Systematic Review and Metaanalysis of Predictors of Mortality in Idiopathic Inflammatory Myopathy-Associated Interstitial Lung Disease
CONCLUSION: Many mortality risk factors were identified, though heterogeneity was high, with a low quality of evidence and a risk of publication bias. Studies regarding anti-MDA5 antibody-positive disease and and those from East Asia predominate, which could mask risk factors relevant to other IIM subgroups or populations.PMID:36379584 | DOI:10.3899/jrheum.220383
Source: Journal of Rheumatology - November 15, 2022 Category: Rheumatology Authors: Jennifer Hannah Huiyi E Law Tanya Gordon Michael Rooney April Buazon Maryam Adas Deepak Nagra Christopher Stovin James Galloway Patrick Gordon Source Type: research

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