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Total 104 results found since Jan 2013.

Ultrasound evaluation of diaphragm motion in BAG-3 myofibrillar myopathy: A case report
We describe the case of a 15-year-old girl who complained of fever and shortness of breath. Diaphragmatic sonography revealed bilateral diaphragmatic paralysis. Shortness of breath progressed to respiratory failure approximately 3 months later. Diagnosis: A neurologist was consulted and genetic sequencing identified a p.Pro209Leu mutation in BAG-3, yielding diagnosis of BAG-3 MFM leading to bilateral diaphragmatic paralysis. Interventions: Respiratory muscle training and long-term mechanical ventilation. Outcomes: It is quite unfortunate for this patient to have a poor prognosis due to the lack of ef...
Source: Medicine - January 7, 2022 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

OptimisAtion of Diagnostic Accuracy in idioPathic inflammaTory myopathies (ADAPT study): a protocol for a prospective diagnostic accuracy study of multimodality testing in patients suspected of a treatable idiopathic inflammatory myopathy
Introduction Idiopathic inflammatory myopathies (IIMs) excluding inclusion body myositis (IBM) are a group of heterogeneous autoimmune disorders characterised by subacute-onset and progressive proximal muscle weakness, which are frequently part of a multisystem autoimmune disorder. Reaching the diagnosis can be challenging, and no gold standard for the diagnosis of IIM exists. Diagnostic modalities include serum creatine kinase activity, muscle imaging (MRI or ultrasound (US)), electromyography (EMG), myositis autoantibody testing and muscle biopsy. Several diagnostic criteria have been developed for IIMs, varying in repor...
Source: BMJ Open - December 13, 2021 Category: General Medicine Authors: Walter, H. A. W., Kamperman, R. G., Raaphorst, J., Verhamme, C., Koelman, J. H. T. M., Potters, W. V., Hemke, R., Smithuis, F. F., Aronica, E., van Leeuwen, E. M. M., Baars, P. A., de Visser, M., van Schaik, I. N., Bossuyt, P. M. M., van der Kooi, A. J. Tags: Open access, Rheumatology Source Type: research

Granulomatous Myositis Associated With Acetylcholine Receptor Antibodies Without Clinical Myasthenia
We present a case of biopsy-proven granulomatous myositis associated with positive acetylcholine receptor binding, blocking, and modulating and antistriated antibodies, without clear clinical symptoms of myasthenia gravis and in the absence of thymoma. In addition, we include rarely reported neuromuscular ultrasound findings of granulomatous myositis in a patient without sarcoidosis. Inflammatory myopathy may precede development of myasthenia gravis in myasthenia gravis associated with concurrent inflammatory myopathy, and it is important to remain vigilant for symptoms suggestive of myasthenia gravis, especially in the pr...
Source: Journal of Clinical Neuromuscular Disease - August 28, 2021 Category: Neurology Tags: Short Report Source Type: research

Providing the conduit for treatment: The impact of vascular access and vein preservation in a 5-year-old child with prenatally diagnosed CRIM-negative Infantile Pompe disease
J Vasc Access. 2021 Mar 5:1129729821999486. doi: 10.1177/1129729821999486. Online ahead of print.ABSTRACTPompe disease is an autosomal recessive glycogen storage disorder resulting in progressive glycogen accumulation expressed in infancy with cardiomyopathy and skeletal myopathy. Without treatment by enzyme replacement therapy (ERT), life expectancy is less than 2 years. The cross-reactive immunologic material (CRIM) positive or negative status is the basis for the response to ERT. CRIM-negative patients mount an immune response to ERT, making this the most dangerous presentation. The following case study describes the 5-...
Source: The Journal of Vascular Access - March 6, 2021 Category: Surgery Authors: Matthew Ostroff Punita Gupta Daniel Garcia Source Type: research

Ultrasound-guided muscle biopsy: a practical alternative for investigation of myopathy
ConclusionUtilization of ultrasound guided –modified Bergström needle technique for muscle biopsy provides comparable success rates to other techniques and has practical, clinical, operational, and patient-centred benefits compared with alternative techniques.
Source: Skeletal Radiology - September 16, 2020 Category: Radiology Source Type: research

A Comparison Study of Conventional Ultrasound and Ultrasound Strain Elastography in the Evaluation of Myopathy
The aim of this study was to compare ultrasound strain elastography (USE) with conventional ultrasonography echogenicity (EL) in detecting muscle pathology. For conventional ultrasonography, biceps EL was obtained. For USE, elasticity index (EI) of biceps was represented as a range, from 0 (softest) to 6 (hardest). Muscle-to-fats elasticity ratio compared EI of muscle with that of surrounding fats. Color distribution of elastogram was analyzed using open-source ImageJ software showing % red, % green, and % blue within a region of interest. Increased biceps EL, decreased biceps EI, and elasticity ratio were observed in pati...
Source: Ultrasound Quarterly - March 1, 2020 Category: Radiology Tags: Technical Article Source Type: research

Regeneration of Mitochondrial Function in Gastrocnemius Muscle in Peripheral Arterial Disease After Successful Revascularisation.
CONCLUSIONS: With these results, it has been shown that the initially impaired mitochondrial function and content can normalise after revascularisation. PMID: 31786105 [PubMed - as supplied by publisher]
Source: PubMed: Eur J Vasc Endovasc ... - November 26, 2019 Category: Surgery Authors: Gratl A, Frese J, Speichinger F, Pesta D, Frech A, Omran S, Greiner A Tags: Eur J Vasc Endovasc Surg Source Type: research

Inspiratory muscle dysfunction relates to clinical disease severity in patients with type I myotonic dystrophy
Conclusions: Inspiratory muscle dysfunction is a common finding in ambulatory DM I patients and proximal muscle weakness should prompt its suspicion.
Source: European Respiratory Journal - November 20, 2019 Category: Respiratory Medicine Authors: Spiesshoefer, J., Henke, C., Kabitz, H.-J., Brix, T., Herkenrath, S., Randerath, W., Young, P., Boentert, M. Tags: Clinical respiratory physiology, exercise and functional imaging Source Type: research

O.13Nemaline myopathy patients with mutations in KBTBD13 display a cardiac phenotype
Nemaline myopathy due to mutations in KBTBD13 (NEM6) is characterized by mild proximal weakness and a peculiar slowness of muscle relaxation. KBTBD13 is also expressed in cardiac muscle. However, a cardiac phenotype in NEM6 has not been reported yet. A member of a large family with the NEM6 Dutch founder mutation KBTBD13R408C visited our cardiogenetic outpatient clinic because of dilated cardiomyopathy. Hence, we aimed to elucidate the consequences of KBTBD13-mutations on cardiac function. A pedigree was constructed, medical reports on cardiac characteristics were collected and cardiological evaluation (ECG, echocardiograp...
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: J. de Winter, K. Bouman, M. van den Berg, J. Strohm, J. Jongbloed, W. van der Roest, J. van Wijngaarden, J. Timmermans, E. Kamsteeg, B. Van Engelen, R. Van der Pijl, H. Granzier, K. van Spaendonck-Zwarts, N. Voermans, C. Ottenheijm Source Type: research

P.06Muscle ultrasound in patients with inclusion body myositis: differentiating from mimics
In this study we aimed to further evaluate the ability of US to differentiate between IBM and Polymyositis/Dermatomyositis (PM/DM) and neuromuscular disorders using two separate cohorts.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: K. Leeuwenberg, L. Christopher-Stine, J. Paik, E. Tiniakou, C. Mecoli, N. van Alfen, J. Doorduin, C. Saris, J. Albayda Source Type: research

Multimodality imaging findings of visceral myopathy in a child presenting with palpable abdominal mass.
We report a rare case of visceral myopathy in a child presenting with intraabdominal mass. We aimed to describe ultrasound, computed tomography and magnetic resonance enterography findings of this rare disease that has not been demonstrated before. Differential diagnosis of mural thickening with distinguishable layers in addition to intestinal dilatation in the absence of mesenteric inflammation includes visceral myopathy. PMID: 31559733 [PubMed - in process]
Source: The Turkish Journal of Pediatrics - September 29, 2019 Category: Pediatrics Authors: Bayramoğlu Z, Yılmaz R, Demir AA, Ataizi-Çelikel Ç, Kombak FE, İkinci A, Yekeler E Tags: Turk J Pediatr Source Type: research

Reduction in stiffness of proximal leg muscles during the first 6 months of glucocorticoid therapy for giant cell arteritis: A pilot study using shear wave elastography
ConclusionGlucocorticoid therapy in patients with GCA was associated with a significant reduction in proximal leg muscle stiffness during the first 6  months. Future research should study a larger sample of patients for a longer duration to investigate if diminished muscle stiffness precedes signs of glucocorticoid‐induced myopathy.
Source: International Journal of Rheumatic Diseases - July 29, 2019 Category: Rheumatology Authors: Abdulrahman M. Alfuraih, Ai Lyn Tan, Philip O ’Connor, Paul Emery, Sarah Mackie, Richard J. Wakefield Tags: ORIGINAL ARTICLE Source Type: research

Clinical review: peripheral muscular ultrasound in the ICU
Muscular weakness developing from critical illness neuropathy, myopathy and muscle atrophy has been characterized as intensive care unit-acquired weakness (ICUAW). This entity occurs commonly during and after ...
Source: Annals of Intensive Care - May 17, 2019 Category: Intensive Care Authors: Paolo Formenti, Michele Umbrello, Silvia Coppola, Sara Froio and Davide Chiumello Tags: Review Source Type: research

Quantitative ultrasound of muscle can detect corticosteroid effects.
CONCLUSIONS: These findings suggest that QUS may be able to quantify skeletal muscle alterations associated with chronic corticosteroid use. Further study of this approach is warranted. SIGNIFICANCE: The findings of this study may provide a tool to evaluate corticosteroid myopathy. PMID: 31122815 [PubMed - as supplied by publisher]
Source: Clinical Neurophysiology - May 9, 2019 Category: Neurology Authors: Martucci MG, McIlduff CE, Shin C, Gutierrez HV, Nam JY, Greenstein P, Phillips K, Uhlmann EJ, Wong ET, Rutkove SB Tags: Clin Neurophysiol Source Type: research