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Total 203 results found since Jan 2013.

Two cases of dermatomyositis associated with neuroendocrine tumors
AbstractDermatomyositis is an idiopathic inflammatory myopathy with cutaneous manifestations, which is associated with several types of malignancies, yet it has been rarely linked to neuroendocrine tumors (NETs). Here we report two cases of dermatomyositis associated with NETs of differing primary sites. Case 1: A 46-year-old female presented with a facial rash and proximal muscle weakness of both extremities. Investigations revealed elevated creatine kinase (CK) and positive anti-transcriptional intermediary factor 1- γ antibody (TIF1γ). The patient had been diagnosed with dermatomyositis and underwent a total body CT s...
Source: International Cancer Conference Journal - August 31, 2023 Category: Cancer & Oncology Source Type: research

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

Pneumomediastinum, pneumatosis intestinalis and pneumoperitoneum in a patient with polymyositis: case-based review
We present a 59-year-old polymyositis (PM) patient who experienced all three complications simultaneously. The patient who presented with proximal muscle weakness, dysphagia, and weight loss was diagnosed with PM due to elevated muscle enzymes and consistent electromyography and muscle biopsy with inflammatory myopathy. On the 45th day of her immunosuppressive treatment, PnM, PI, and PP were detected incidentally in18F-fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT) scan performed for severe weight loss and treatment-resistant severe disease. Since the patient had no symptoms or signs o...
Source: Rheumatology International - March 12, 2023 Category: Rheumatology Source Type: research

Ectopic adrenocorticotrophic hormone syndrome secondary to treatment-related neuroendocrine differentiation of metastatic castrate-resistant prostate cancer
Endocrinol Diabetes Metab Case Rep. 2023 Jan 1;2023:22-0347. doi: 10.1530/EDM-22-0347. Online ahead of print.ABSTRACTSUMMARY: A 64-year-old man with progressive metastatic castrate-resistant prostate adenocarcinoma presented with recurrent fluid overload, severe hypokalaemia with metabolic alkalosis and loss of glycaemic control. Clinical features were facial plethora, skin bruising and proximal myopathy. Plasma adrenocorticotrophic hormone (ACTH), serum cortisol and 24-h urinary cortisol levels were elevated. Low-dose dexamethasone failed to suppress cortisol. Pituitary MRI was normal and 68Gallium-DOTATATE PET-CT scan sh...
Source: Cancer Control - January 10, 2023 Category: Cancer & Oncology Authors: Chelsea Tan Jessica Triay Source Type: research

A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype
ConclusionThis is the first case of POH phenotype associated with a novel de novo pathogenic frameshift variant inFAM111B. Whether the frameshift change inFAM111B predicts POH remains unclear. Further evaluations are necessary to fully elucidate this finding and the potential role and mechanism by which theFAM111B variants contributes to POH phenotype.
Source: Calcified Tissue International - December 27, 2022 Category: Orthopaedics Source Type: research

Case report: A unusual case of delayed propionic acidemia complicated with subdural hematoma
ConclusionsThe muscle pathological examination of late-onset PA provides valuable information that is helpful for distinguishing delayed-onset PA from metabolic diseases. In the absence of a history of trauma, subdural hematoma may be a very rare complication of late-onset PA and can be regarded as a poor prognostic sign; therefore, it is suggested to perform head computed tomography as part of the routine neurological evaluation of PA patients.
Source: Frontiers in Neurology - December 22, 2022 Category: Neurology 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

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

Sarcopenia and Myositis Revisited
Fluorodeoxyglucose (FDG) PET/computed tomography (CT) is a valuable diagnostic modality in the work-up of patients with suspected inflammatory myopathy. Sarcopenia and metabolic muscle activity on staging FDG PET/CT has been shown to correlate with overall survival in certain oncologic settings. Knowledge of the physiologic FDG uptake in skeletal muscles and optimization of imaging protocols are key for proper image analysis.
Source: PET Clinics - November 26, 2022 Category: Radiology Authors: Patrick Debs, Abdullah Al-Zaghal, Lilja B. Solnes, Abass Alavi 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: J Rheumatol - 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