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Procedure: Ultrasound
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Total 104 results found since Jan 2013.
Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report
ConclusionsHereditary polyglucosan inclusion body myopathy of the internal anal sphincter should be considered in the differential diagnosis of a patient presenting with severe anal pain and constipation in the absence of an anal fissure or sepsis. If medical therapy with calcium antagonists fails to provide symptom relief, lateral internal sphincterotomy should be considered rather than botulinum toxin injection.
Source: Journal of Medical Case Reports - October 24, 2018 Category: General Medicine Source Type: research
Nemaline myopathy – Diagnostic and management dilemma
Introduction: We are presenting a case on prenatal diagnosis of nemaline myopathy, in a couple whose last baby died from the same genetic condition. Nemaline myopathy is a rare genetic disorder affecting the muscles with a range of severity and can be inherited as recessive or dominant. There are 13 different genes known to be linked with this condition. In her last pregnancy, the only ultrasound finding was isolated talipes and patient declined further invasive testing at the time. The diagnosis was made clinically when baby was born and confirmed with muscle biopsies and genetic testing.
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - February 19, 2019 Category: OBGYN Authors: Sharon Fan, Alison Kraus, Uma Rajesh Tags: Basic Science 6 – Teratology genetics and outcomes Source Type: research
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant
Conclusion The recurrent TTN c.39974–11T > G variant consistently causes congenital arthrogryposis and persisting myopathy providing evidence that the metatranscript-only 213 to 217 exons impact muscle elasticity during early development and beyond. There is a recognizable pattern of muscle involvement, which is distinct from other myopathies and provides valuable clues for diagnostic work-up. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text
Source: Neuropediatrics - October 2, 2022 Category: Neurology Authors: Averdunk, Luisa Donkervoort, Sandra Horn, Denise Waldm üller, Stephan Syeda, Safoora Neuhaus, Sarah B. Chao, Katherine R van Riesen, Anne Gauck, Darja Haack, Tobias Japp, Anna S. Lee, Unaa B önnemann, Carsten G. Mayatepek, Ertan Distelmaier, Felix Tags: Original Article Source Type: research
Chronic Myopathy as the Initial Manifestation of Thyrotoxicosis: A Report of 2 Cases
Conclusions:
Although rare, thyrotoxicosis should always be ruled out in a patient with chronic myopathy because this has better prognosis than other primary muscle conditions presenting similarly.
Source: Journal of Clinical Neuromuscular Disease - November 24, 2022 Category: Neurology Tags: Case Reviews Source Type: research
Characteristics of cardiac involvement in immune-mediated necrotizing myopathy
ConclusionCardiac involvement is not uncommon in IMNM. However, besides clearly statistically significant differences in the disease course, and in the values of troponin T and myoglobin, our data did not show any statistically significant difference in other features of cardiac involvement between patients with different subtypes of IMNM.
Source: Frontiers in Immunology - February 28, 2023 Category: Allergy & Immunology Source Type: research
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Abstract: Early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) is a myopathic disorder associated with mutations in MEGF10. By novel analysis of SNP array hybridization and exome sequence coverage, we diagnosed a 10-years old girl with EMARDD following identification of a novel homozygous deletion of exon 7 in MEGF10. In contrast to previously reported EMARDD patients, her weakness was more prominent proximally than distally, and involved her legs more than her arms. MRI of her pelvis and thighs showed muscle atrophy and fatty replacement. Ultrasound of several muscle groups revealed dense homogenou...
Source: Neuromuscular Disorders - March 4, 2013 Category: Neurology Authors: Tyler Mark Pierson, Thomas Markello, John Accardi, Lynne Wolfe, David Adams, Murat Sincan, Noor M. Tarazi, Karin Fuentes Fajardo, Praveen F. Cherukuri, Ilda Bajraktari, Katy G. Meilleur, Sandra Donkervoort, Mina Jain, Ying Hu, Tanya J. Lehky, Pedro Cruz, Tags: Research papers Source Type: research
T.P.48: Acoustic radiation force impulse imaging for the longitudinal assessment of muscle tissue stiffness in collagen 6 myopathy and LAMA2 related muscular dystrophy
Acoustic Radiation Force Impulse (ARFI)-Imaging is a non-invasive ultrasound-based operator independent elastography method that assesses tissue stiffness. ARFI mechanically excites tissues with localized impulsive radiation resulting in shear wave propagation (m/s) away from the region of excitation. Shear wave velocity (SWV) increases when tissue is stiffer, and in muscle disorders, this may be related to either fibrosis or edema. Here we address the sensitivity and specificity of ARFI-imaging to changes in the individual muscles of patients with collagen 6 myopathy (COL6) and LAMA2 related muscular dystrophy (LAMA2), as...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: J. Dastgir, C. Vuillerot, D. Nguyen, K. Yang, S. Auh, S. Donkervoort, K. Meilleur, M. Leach, M. Jain, A. Rutkowski, C. Bönnemann Source Type: research
Novel myopathy in a newborn with Shwachman–Diamond syndrome and review of neonatal presentation
We report a newborn boy with asphyxia, narrow thorax, and severe hypotonia initially suggesting a neuromuscular disease. The muscle biopsy showed myopathic changes with prominent variability in muscle fiber size and abnormal expression of developmental isoforms of myosin. The myofibrils showed focal loss and disorganization of myofilaments, and thickening of the Z‐discs including some abortive nemaline rods. The boy became permanently dependent on assisted ventilation. Pancreatic insufficiency was subsequently diagnosed, explaining the malabsorption and failure to thrive. Except transitory thrombocytopenia and leukopenia...
Source: American Journal of Medical Genetics Part A - February 1, 2016 Category: Genetics & Stem Cells Authors: Alexandra Topa, Mar Tulinius, Anders Oldfors, Carola Hedberg‐Oldfors Tags: Research Article 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
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
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
081 Ultrasound-guided muscle biopsy: a practical alternative for investigation of myopathy
Conclusion
Utilisation of ultrasound-guided modified Bergström needle technique for muscle biopsy provides comparable success rates to other techniques, and has several benefits compared to alternative techniques.
m.ashraghi@nhs.net
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Ashraghi, M., Raithatha, A., Lord, C., Limback-Stanic, C., Viegas, S., Amiras, D. Tags: Poster Presentations 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
Respiratory muscle dysfunction in patients with nemaline myopathy
Conclusions: Respiratory muscle weakness is present in all clinical NM forms included and may be present irrespective of the degree of motor function impairment. Hence, screening of respiratory function is important in patients with NM to guide respiratory management.
Source: European Respiratory Journal - December 1, 2022 Category: Respiratory Medicine Authors: van Kleef, E., Van Doorn, J., Gaytant, M., De Weerd, W., Vosse, B., Wallgren-Pettersson, C., Van Engelen, B., Ottenheijm, C., Voermans, N., Doorduin, J. Tags: 01.01 - Clinical problems - no related to asthma or COPD Source Type: research
The utility and tolerability of ultrasound guided muscle biopsy in the investigation of myopathy: a follow-up study
ConclusionThis follow-up study reinforces the conclusion of its predecessor by highlighting that ultrasound guided percutaneous muscle biopsy is a useful and tolerable adjunct to the traditional surgical technique in investigating muscle disorders.
Source: Journal of Ultrasound - August 4, 2023 Category: Radiology Source Type: research
