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Muscle biopsy

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https://www.readbyqxmd.com/read/28227410/localized-mri-and-histological-image-correlation-in-a-canine-model-of-duchenne-muscular-dystrophy
#1
A Eresen, S McConnell, S M Birch, J F Griffin, J N Kornegay, J X Ji, A Eresen, S McConnell, S M Birch, J F Griffin, J N Kornegay, J X Ji, J X Ji, J F Griffin, S McConnell, S M Birch, A Eresen, J N Kornegay
Duchenne Muscular Dystrophy (DMD) is a fatal X-linked disorder. Therapeutic assessments currently require muscle biopsy to ascertain information about the status of disease progression. MRI shows potential to be used in place of muscle biopsy for therapeutic assessments. In this work, localized histological data and various MRI parameters were correlated in a canine model of DMD. The results indicate several MRI parameters may be useful as biomarkers of disease progression.
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28225357/robust-sound-speed-estimation-for-ultrasound-based-hepatic-steatosis-assessment
#2
Imbault Marion, Alex Faccinetto, Bruno-Felix Osmanski, Antoine Tissier, Thomas Deffieux, Jean-Luc Gennisson, Valerie Vilgrain, Mickael Tanter
Hepatic steatosis is a common condition, the prevalence of which is increasing along with non-alcoholic fatty liver disease (NAFLD). Currently, the most accurate noninvasive imaging method for diagnosing and quantifying hepatic steatosis is MRI, which estimates the Proton-Density Fat Fraction (PDFF) as a measure of fractional fat content. However, MRI suffers several limitations including cost, contra-indications and poor availability. Although conventional ultrasound is widely used by radiologists for hepatic steatosis assessment, it remains qualitative and operator dependent...
February 22, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/28224701/pathogenic-role-of-anti-srp-and-anti-hmgcr-antibodies-in-necrotizing-myopathies-myofiber-atrophy-and-impairment-of-muscle-regeneration-in-necrotizing-autoimmune-myopathies
#3
Louiza Arouche-Delaperche, Yves Allenbach, Damien Amelin, Corinna Preusse, Vincent Mouly, Wladimir Mauhin, Gaelle Dzangue Tchoupou, Laurent Drouot, Olivier Boyer, Werner Stenzel, Gillian Butler-Browne, Olivier Benveniste
OBJECTIVE: Immune mediated necrotizing myopathies (IMNM) may be associated with either anti-SRP or anti-HMGCR antibodies (Abs) and the titer of these Abs is correlated with the disease activity. We investigated if anti-SRP and anti-HMGCR Abs could be involved in muscle damages. METHODS: Muscle biopsies of patients were analyzed for atrophy and regeneration, by measuring the fibers size and by performing immunostaining of neonatal myosin heavy chain. To further understand the role of the Abs in the pathology, we performed muscle cell co-culture with the Abs...
February 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28224639/rigid-spine-syndrome-associated-with-sensory-motor-axonal-neuropathy-resembling-charcot-marie-tooth-disease-is-characteristic-of-bag3-gene-mutations-even-without-cardiac-involvement
#4
Jean-Baptiste Noury, Thierry Maisonobe, Pascale Richard, Valérie Delague, Edoardo Malfatti, Tanya Stojkovic
INTRODUCTION: BAG3 (Bcl-2 associated athanogene-3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement and contractures and are associated with cardiac and respiratory impairment in the second decade. Axonal neuropathy has been documented, but usually not as a key clinical feature. METHODS: We report a 24-year-old woman with severe rigid spine syndrome and sensory-motor neuropathy resembling Charcot-Marie-Tooth disease (CMT)...
February 22, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28224171/assessment-of-liver-iron-overload-by-3%C3%A2-t-mri
#5
A Paisant, A Boulic, E Bardou-Jacquet, E Bannier, G d'Assignies, F Lainé, B Turlin, Y Gandon
PURPOSE: To evaluate the performance and limitations of the signal intensity ratio method for quantifying liver iron overload at 3 T. METHODS: Institutional review board approval and written informed consent from all participants were obtained. One hundred and five patients were included prospectively. All patients underwent a liver biopsy with biochemical assessment of hepatic iron concentration and a 3 T MRI scan with 5 breath-hold single-echo gradient-echo sequences...
February 21, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/28221303/a-case-of-asymptomatic-inclusion-body-myositis
#6
Rey Bello, Tulio Bertorini, Kartheek Ganta, William Mays
OBJECTIVES: To present a case of asymptomatic inclusion body myositis. METHODS: The authors report a case of a 67-year-old man who presented with idiopathic hyperCKemia. Physical examination including a complete neurological evaluation was unremarkable. Systemic causes of hyperCKemia, including medication side effects, metabolic and endocrine disorders, and connective tissue disorders, were ruled out with various indicated tests. RESULTS: Two and a half years after initial consultation, the patient reported left knee pain...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28219397/immunohistochemistry-of-sarcolemmal-membrane-associated-proteins-in-formalin-fixed-and-paraffin-embedded-skeletal-muscle-tissue-a-promising-tool-for-the-diagnostic-evaluation-of-common-muscular-dystrophies
#7
Chinnawut Suriyonplengsaeng, Charungthai Dejthevaporn, Chaiyos Khongkhatithum, Suda Sanpapant, Nattha Tubthong, Koset Pinpradap, Nippa Srinark, Jariya Waisayarat
BACKGROUND: The analysis of fresh frozen muscle specimens is standard following routine muscle biopsy, but this service is not widely available in countries with limited medical facilities, such as Thailand. Nevertheless, immunohistochemistry (IHC) analysis is essential for the diagnosis of patients with a strong clinical suspicion of muscular dystrophy, in the absence of mutations detected by molecular genetics. As the successful labelling of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded (FFPE) muscle sections using IHC staining has rarely been described, this study aimed to develop a reproducible IHC method for such an analysis...
February 20, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28217183/affection-of-the-respiratory-muscles-in-combined-complex-i-and-iv-deficiency
#8
Josef Finsterer, Helmut Rauschka, Liane Segal, Gabor G Kovacs, Boris Rolinski
OBJECTIVES: Combined complex I+IV deficiency has rarely been reported to manifest with the involvement of the respiratory muscles. CASE REPORT: A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy...
2017: Open Neurology Journal
https://www.readbyqxmd.com/read/28214269/immunohistochemistry-on-a-panel-of-emery-dreifuss-muscular-dystrophy-samples-reveals-nuclear-envelope-proteins-as-inconsistent-markers-for-pathology
#9
Phu Le Thanh, Peter Meinke, Nadia Korfali, Vlastimil Srsen, Michael I Robson, Manfred Wehnert, Benedikt Schoser, Caroline A Sewry, Eric C Schirmer
Reports of aberrant distribution for some nuclear envelope proteins in cells expressing a few Emery-Dreifuss muscular dystrophy mutations raised the possibility that such protein redistribution could underlie pathology and/or be diagnostic. However, this disorder is linked to 8 different genes encoding nuclear envelope proteins, raising the question of whether a particular protein is most relevant. Therefore, myoblast/fibroblast cultures from biopsy and tissue sections from a panel of nine Emery-Dreifuss muscular dystrophy patients (4 male, 5 female) including those carrying emerin and FHL1 (X-linked) and several lamin A (autosomal dominant) mutations were stained for the proteins linked to the disorder...
December 21, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28210626/osteogenic-differentiation-capacity-of-in-vitro-cultured-human-skeletal-muscle-for-expedited-bone-tissue-engineering
#10
Chunlei Miao, Lulu Zhou, Lufeng Tian, Yingjie Zhang, Wei Zhang, Fanghong Yang, Tianyi Liu, Shengjian Tang, Fangjun Liu
Expedited bone tissue engineering employs the biological stimuli to harness the intrinsic regenerative potential of skeletal muscle to trigger the reparative process in situ to improve or replace biological functions. When genetically modified with adenovirus mediated BMP2 gene transfer, muscle biopsies from animals have demonstrated success in regenerating bone within rat bony defects. However, it is uncertain whether the human adult skeletal muscle displays an osteogenic potential in vitro when a suitable biological trigger is applied...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28210409/primary-leiomyosarcoma-of-the-mandibular-alveolar-mucosa-of-a-12-year-old-child-from-ethiopia-a-case-report
#11
Tewodros Tefera Kenea, Betel Abebe Kebede, Fekadu Mesele Gozjuze, Hagos Kiros, Frank Wilde
Leiomyosarcomas (LMSs) are rare malignant mesenchymal tumors which show smooth-muscle differentiation. Most LMSs involving the oral tissues primarily affect the maxillary sinus, the maxillary or mandibular bone. We present a case of LMS of the mandibular alveolar mucosa, arising in a 12-year-old male child from Ethiopia. A malignant spindle cell-like neoplasm was diagnosed on clinical and radiographic findings as well as on incisional biopsy. The tumor was resected with wide margins. The following histopathologic examination with additional immunohistochemical studies secured the diagnosis LMS...
March 2017: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/28210184/surgical-treatment-of-a-rare-case-of-bilateral-ptosis-due-to-localized-ocular-amyloidosis
#12
Gianluca Scuderi, Solmaz Abdolrahimzadeh, Antonietta Troccola, Marco Mazzocchi, Santi Maria Recupero
We describe a rare case of a 31-year old woman with bilateral ptosis due to localized amyloidosis. She referred a nine-year history of ptosis and surgical treatment with frontalis suspension three years previously. Following complete ophthalmological examination and evaluation of the ptosis we carried out tarsal and fornix biopsy, which revealed accumulation of a weakly eosinophilic amyloid positive substance. We performed surgical correction using the levator aponeurosis-Müller's muscle complex re-adaptation technique and amyloid substance debulking in all the palpebral layers in the left eye...
July 2016: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/28209809/macrophage-to-myofibroblast-transition-contributes-to-interstitial-fibrosis-in-chronic-renal-allograft-injury
#13
Ying-Ying Wang, Hong Jiang, Jun Pan, Xiao-Ru Huang, Yu-Cheng Wang, Hong-Feng Huang, Ka-Fai To, David J Nikolic-Paterson, Hui-Yao Lan, Jiang-Hua Chen
Interstitial fibrosis is an important contributor to graft loss in chronic renal allograft injury. Inflammatory macrophages are associated with fibrosis in renal allografts, but how these cells contribute to this damaging response is not clearly understood. Here, we investigated the role of macrophage-to-myofibroblast transition in interstitial fibrosis in human and experimental chronic renal allograft injury. In biopsy specimens from patients with active chronic allograft rejection, we identified cells undergoing macrophage-to-myofibroblast transition by the coexpression of macrophage (CD68) and myofibroblast (α-smooth muscle actin [α-SMA]) markers...
February 16, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28209545/robot-assisted-laparoscopic-resection-of-renal-vein-leiomyosarcoma
#14
Kathryn Trandem, Monty A Aghazadeh, Alvin C Goh
Leiomyosarcoma is a rare and aggressive retroperitoneal tumor arising from the smooth muscle of the tunica media. The IVC accounts for > 70% of all leiomyosarcomas, with the renal vein being limited to few case reports (1)(2)(3)(4)(5). Accurate pre-operative diagnosis is rare as the origin is unclear and its involvement of the vessels makes biopsy prohibitively dangerous (6). Treatment involves radical nephrectomy followed by adjuvant radiation and/or chemotherapy, with poor prognosis (7)(8). Herein, we describe the laproscopic dissection of a retroperitoneal renal vein tumor using a robotic approach...
February 13, 2017: Urology
https://www.readbyqxmd.com/read/28207959/lipoprotein-lipase-activity-does-not-predict-vldl-tg-fatty-acid-oxidation-during-exercise
#15
Esben Søndergaard, Iben R Andersen, Lars P Sørensen, Lars C Gormsen, Søren Nielsen
INTRODUCTION: Exercise lowers plasma triglyceride levels, but the physiological mechanisms remain not fully elucidated. Lipoprotein lipase (LPL) is a key enzyme in facilitating fatty acid uptake from lipoproteins. Since exercise increase the efficiency of VLDL-TG oxidation, we hypothesized that muscle LPL activity would be a rate-limiting step and predict VLDL-TG FA oxidation during exercise. METHODS: Sixteen healthy, lean subjects (8 men and 8 women) were examined before and during an acute exercise bout (90 min at 50% of VO2-max)...
February 16, 2017: Scandinavian Journal of Medicine & Science in Sports
https://www.readbyqxmd.com/read/28203162/thymoma-metastasis-to-the-semimembranosus-muscle
#16
Kenta Taniguchi, Michiro Susa, Sho Ogata, Yuichi Ozeki, Kazuhiro Chiba
Thymoma is the most common thymic epithelial tumor whose classification was first introduced in 1999. Type B2 thymoma is considered a moderate/high-risk tumor; however, extrathoracic metastases are extremely rare with limited reports to date. In this report, we present a rare thymoma metastasis to the semimembranosus muscle, which was resected with a wide margin after confirmation by open biopsy. At the final follow-up after 1 year, no local recurrence has been observed.
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28202889/treatment-of-transthyretin-familial-amyloid-polyneuropathy-with-tafamidis-a-case-report
#17
Yoshimichi Miyazaki
INTRODUCTION: Familial amyloid polyneuropathy (FAP) is a rare hereditary disorder caused by mutations in the transthyretin (TTR) gene. Tafamidis is a TTR stabilizer able to prevent TTR tetramer dissociation, and several studies have demonstrated its safety and efficacy at slowing the progression of neuropathy in FAP caused by the TTR Val30Met mutation. However, nerve conduction study (NCS) and electromyography (EMG) results have yet to be reported in relation to FAP progression during tafamidis therapy...
2017: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
https://www.readbyqxmd.com/read/28202739/anti-hmgcr-autoantibodies-in-juvenile-idiopathic-inflammatory-myopathies-identify-a-rare-but-clinically-important-subset-of-patients
#18
Sarah L Tansley, Zoe E Betteridge, Stefania Simou, Thomas S Jacques, Clarissa Pilkington, Mark Wood, Kishore Warrier, Lucy R Wedderburn, Neil J McHugh
OBJECTIVE: We aimed to establish the prevalence and clinical associations of anti-HMG-CoA-reductase (anti-HMGCR) in a large UK cohort with juvenile myositis. METHODS: There were 381 patients investigated for anti-HMGCR using ELISA. RESULTS: Anti-HMGCR autoantibodies were detected in 4 patients (1%). These children had no or minimal rash and significant muscle disease. Muscle biopsies were considered distinctive, with widespread variation in fiber size, necrotic fibers, and chronic inflammatory cell infiltrates; all had prolonged elevation of creatine kinase and all ultimately received biologic therapies...
February 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28202082/bone-morphogenetic-proteins-and-myostatin-pathways-key-mediator-of-human-sarcopenia
#19
Manuel Scimeca, Eleonora Piccirilli, Francesca Mastrangeli, Cecilia Rao, Maurizio Feola, Augusto Orlandi, Elena Gasbarra, Elena Bonanno, Umberto Tarantino
BACKGROUND: Sarcopenia, osteoporosis and osteoarthritis are the most frequent musculoskeletal disorders affecting older people. The main aim of this study was to test the hypothesis that the balance between BMPs and myostatin pathways regulates the age-related muscle degeneration in OP and OA patients. To this end, we investigated the relationship among the expression of BMP-2/4-7, myostatin and phosphorylated Smads1-5-8 and the muscle quality, evaluated in term of fibers atrophy and satellite cells activity...
February 15, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28201858/prominent-subcutaneous-oedema-as-a-masquerading-symptom-of-an-underlying-inflammatory-myopathy
#20
Anthea Anantharajah, Steve Vucic, Surjit Tarafdar, Roslyn Vongsuvanh, Nicholas Wilcken, Sanjay Swaminathan
The inflammatory myopathies are a group of immune-mediated inflammatory muscle disorders that typically present with marked proximal muscle weakness. We report four cases of inflammatory myopathies with marked subcutaneous oedema as their main complaint. Three of the four patients had normal or low levels of creatine kinase, an enzyme often markedly elevated in these disorders. Magnetic resonance imaging of the muscles, followed by a muscle biopsy were used to make a definitive diagnosis.
February 2017: Internal Medicine Journal
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