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Muscle biopsy

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https://www.readbyqxmd.com/read/29145311/pulmonary-hypertension-as-a-manifestation-of-mitochondrial-disease-a-case-report-and-review-of-the-literature
#1
Shan Xu, Xiaoling Xu, Jisong Zhang, Kejing Ying, Yuquan Shao, Ruifeng Zhang
BACKGROUND: Mitochondrial diseases are a group of multisystem heterogeneous diseases caused by pathologic dysfunction of the mitochondrial respiratory chain. A wide range of clinical expression has been described. However, pulmonary hypertension has rarely been described in association with mitochondrial disease until the past decade, and there is no currently recognized treatment for the pulmonary hypertension complicated with mitochondrial disorder. PATIENT CONCERNS: We reported the case of a 15-year-old boy who presented with shortness of breath and exercise limitation after a cold, and the diagnosis of pulmonary hypertension was confirmed by right heart catheter...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29143594/the-gene-smart-study-method-study-design-and-preliminary-findings
#2
REVIEW
Xu Yan, Nir Eynon, Ioannis D Papadimitriou, Jujiao Kuang, Fiona Munson, Oren Tirosh, Lannie O'Keefe, Lyn R Griffiths, Kevin J Ashton, Nuala Byrne, Yannis P Pitsiladis, David J Bishop
The gene SMART (genes and the Skeletal Muscle Adaptive Response to Training) Study aims to identify genetic variants that predict the response to both a single session of High-Intensity Interval Exercise (HIIE) and to four weeks of High-Intensity Interval Training (HIIT). While the training and testing centre is located at Victoria University, Melbourne, three other centres have been launched at Bond University, Queensland University of Technology, Australia, and the University of Brighton, UK. Currently 39 participants have already completed the study and the overall aim is to recruit 200 moderately-trained, healthy Caucasians participants (all males 18-45 y, BMI < 30)...
November 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29143313/polyglucosan-myopathy-and-functional-characterization-of-a-novel-gyg1-mutation
#3
C Hedberg-Oldfors, A Mensch, K Visuttijai, G Stoltenburg, D Stoevesandt, T Kraya, A Oldfors, S Zierz
OBJECTIVES: Disorders of glycogen metabolism include rare hereditary muscle glycogen storage diseases with polyglucosan, which are characterized by storage of abnormally structured glycogen in muscle in addition to exercise intolerance or muscle weakness. In this study, we investigated the etiology and pathogenesis of a late-onset myopathy associated with glycogenin-1 deficiency. MATERIALS AND METHODS: A family with two affected siblings, 64- and 66-year-olds, was studied...
November 15, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29143226/aligned-ovine-diaphragmatic-myoblasts-overexpressing-human-connexin-43-seeded-on-poly-l-lactic-acid-scaffolds-for-potential-use-in-cardiac-regeneration
#4
Carlos Sebastián Giménez, Paola Locatelli, Florencia Montini Ballarin, Alejandro Orlowski, Ricardo A Dewey, Milagros Pena, Gustavo Abel Abraham, Ernesto Alejandro Aiello, María Del Rosario Bauzá, Luis Cuniberti, Fernanda Daniela Olea, Alberto Crottogini
Diaphragmatic myoblasts (DMs) are precursors of type-1 muscle cells displaying high exhaustion threshold on account that they contract and relax 20 times/min over a lifespan, making them potentially useful in cardiac regeneration strategies. Besides, it has been shown that biomaterials for stem cell delivery improve cell retention and viability in the target organ. In the present study, we aimed at developing a novel approach based on the use of poly (L-lactic acid) (PLLA) scaffolds seeded with DMs overexpressing connexin-43 (cx43), a gap junction protein that promotes inter-cell connectivity...
November 15, 2017: Cytotechnology
https://www.readbyqxmd.com/read/29143179/diagnostic-work-up-in-steroid-myopathy
#5
REVIEW
Marco Alessandro Minetto, Valentina D'Angelo, Emanuela Arvat, Santosh Kesari
INTRODUCTION: Steroid myopathy is a well-known sign of endogenous Cushing's syndrome as well as a side effect of glucocorticoid administration. The clinical finding of muscle weakness and the clinical inspection of the muscle size are the most commonly used diagnostic tools, sometimes in combination with needle electromyography, but there are no means to detect the myopathy before the appearance of clinical or electrodiagnostic signs. Until now, no guidelines have been produced for a disease-specific evaluation of muscle impairment in patients with Cushing's syndrome...
November 15, 2017: Endocrine
https://www.readbyqxmd.com/read/29141652/congenital-myopathies-clinical-phenotypes-and-new-diagnostic-tools
#6
REVIEW
Denise Cassandrini, Rosanna Trovato, Anna Rubegni, Sara Lenzi, Chiara Fiorillo, Jacopo Baldacci, Carlo Minetti, Guja Astrea, Claudio Bruno, Filippo M Santorelli
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis...
November 15, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29140994/copy-number-gains-at-chr3p25-and-chr11p11-are-associated-with-lymph-node-involvement-and-survival-in-muscle-invasive-bladder-tumors
#7
Karla J Lindquist, Thomas Sanford, Terence W Friedlander, Pamela L Paris, Sima P Porten
Patients with muscle-invasive bladder cancer (MIBC) have poorer prognoses if cancer has metastasized to the lymph nodes. Genomic markers of lymph node involvement (LNI) would be useful for treatment planning, especially if measured at the biopsy stage, but large-scale studies of tumor tissue at any stage are needed to discover robust markers of LNI. We performed a genome-wide query of copy number alterations (CNA) in 237 MIBC surgical tumor specimens from patients in The Cancer Genome Atlas who had radical cystectomy and lymphadenectomy without neoadjuvant treatment...
2017: PloS One
https://www.readbyqxmd.com/read/29139379/-about-the-technique-of-muscle-biopsy-iv-the-advent-of-histochemistry-and-cytoenzymology-in-the-analysis-of-muscle-biopsies-a-short-and-personal-historical-overview
#8
https://www.readbyqxmd.com/read/29137065/primary-leiomyosarcoma-of-the-bone-a-case-report-and-a-review-of-the-literature
#9
Federica Recine, Alberto Bongiovanni, Roberto Casadei, Federica Pieri, Nada Riva, Alessandro De Vita, Laura Mercatali, Chiara Liverani, Chiara Spadazzi, Giacomo Miserocchi, Valentina Fausti, Dino Amadori, Toni Ibrahim
RATIONALE: Leiomyosarcoma (LMS) is a malignant sarcoma that can occur in different anatomic sites, including the bone, showing similar histological characteristics but heterogeneous clinical behavior and prognosis. Primary bone LMS was first described in 1965. It is a very rare sarcoma, accounting for <0.7% of all primary malignant bone tumors. PATIENT CONCERNS: We report the case of a 52-year-old male with primary bone LMS who presented with a solitary osteolytic lesion with focal cortical destruction in the left clavicle, seen on an x-ray and subsequent computed tomography (CT) scan...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29137032/non-hodgkin-lymphoma-of-multiple-extranodal-involvement-seen-on-mri-fdg-pet-ct-scans-a-case-report
#10
Shan Wang, Meng Meng, Qiuhu Wang, Kai Xu
RATIONALE: Anaplastic large cell lymphoma (ALCL) is a rare type of non-Hodgkin lymphoma (NHL). The most common extranodal sites of ALCL are skin, subcutaneous tissue, bone, lung, and gastrointestinal organs. This study reports a case of ALCL with multiple extranodal involvement, especially the whole body skeletal muscles, with the aim to share the imaging features of the ALCL including magnetic resonance imaging (MRI) and 18F-fluorodeoxyglucose positron emission tomography-computed tomography (18F-FDG PET-CT)...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29132536/effects-of-acute-hyperinsulinemia-on-skeletal-muscle-mitochondrial-function-reactive-oxygen-species-production-and-metabolism-in-premenopausal-women
#11
Jonathan L Warren, Sule Bulur, Fernando Ovalle, Samuel T Windham, Barbara A Gower, Gordon Fisher
BACKGROUND: Acute metabolic demands that promote excessive and/or prolonged reactive oxygen species production may stimulate changes in mitochondrial oxidative capacity. PURPOSE: To assess changes in skeletal muscle H2O2 production, mitochondrial function, and expression of genes at the mRNA and protein levels regulating energy metabolism and mitochondrial dynamics following a hyperinsulinemic-euglycemic clamp in a cohort of 11 healthy premenopausal women. METHODS: Skeletal muscle biopsies of the vastus lateralis were taken at baseline and immediately following the conclusion of a hyperinsulinemic-euglycemic clamp...
December 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29129636/inflammation-mediated-muscle-metabolic-dysregulation-local-and-remote-to-the-site-of-major-abdominal-surgery
#12
Krishna K Varadhan, Dumitru Constantin-Teodosiu, Despina Constantin, Paul L Greenhaff, Dileep N Lobo
BACKGROUND & AIMS: Postoperative hyperglycaemia is common in patients having major surgery and is associated with adverse outcomes. This study aimed to determine whether bacteraemia contributed to postoperative systemic inflammation, and whether increases in the expression of muscle mRNAs and proteins reflecting increased muscle inflammation, atrophy and impaired carbohydrate oxidation were evident at the time of surgery, and both local and distant to the site of trauma, and could be associated with impaired glucoregulation...
November 2, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29129153/skin-biopsy-for-diagnosis-of-ullrich-congenital-muscular-dystrophy-an-observational-study
#13
Biswaroop Chakrabarty, M C Sharma, Sheffali Gulati, Chitra Sarkar
The gold standard diagnostic test for Ullrich congenital muscular dystrophy (UCMD) is molecular testing for COL6 mutation. The facility for genetic testing is sparingly available and it is usually diagnosed by muscle biopsy. The latter is an invasive procedure requiring expertise and sedation. Skin biopsy has shown promise as a simpler diagnostic modality. Eleven and 7 cases, respectively, of phenotypically suspected Ullrich congenital muscular dystrophy and dystrophinopathy underwent simultaneous skin and muscle biopsies, which were subjected to hematoxylin and eosin (H&E) and immunohistochemistry staining for collagen VI and dystrophin 1, 2, and 3...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29128544/experimental-poisoning-by-vernonia-rubricaulis-in-sheep
#14
Kelly C S Godoy, Paula V Leal, Marcelo A Araújo, Alda I Souza, Arnildo Pott, Stephen T Lee, Claudio S L Barros, Ricardo A A de Lemos
In order to evaluate the susceptibility of sheep to V. rubricaulis and to establish the clinical signs, serum biochemistry, and pathological findings, eight sheep were fed varying doses of V. rubricaulis. The onset of clinical signs occurred 6-48 h after the ingestion of V. rubricaulis. Clinical courses lasted 6-56 h after the ingestion of the plant. Serum activities of aspartate aminotransferase, gamma-glutamyl transferase, and alkaline phosphatase were highly elevated and glucose blood levels were low in affected sheep...
November 8, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/29128256/megf10-related-myopathies-a-new-case-with-adult-onset-disease-with-prominent-respiratory-failure-and-review-of-reported-phenotypes
#15
Elizabeth Harris, Chiara Marini-Bettolo, Ana Töpf, Rita Barresi, Tuomo Polvikovski, Geraldine Bailey, Richard Charlton, James Tellez, Daniel MacArthur, Michela Guglieri, Hanns Lochmüller, Kate Bushby, Volker Straub
Recessive mutations in MEGF10 (multiple epidermal growth factor 10) have been reported in a severe early onset disorder named Early Myopathy, Areflexia, Respiratory Distress and Dysphagia, and a milder form with cores in the muscle biopsy; and a possible genotype-phenotype correlation determining the clinical presentation has been suggested. We undertook exome sequencing in a 66 year old male with a 20 year history of progressive proximal and distal weakness of upper and lower limbs, facial weakness and dysphagia, who developed respiratory failure requiring ventilation while still ambulant in his 50s...
October 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29127695/management-of-the-other-retroperitoneal-sarcomas
#16
REVIEW
Piotr L Rutkowski, John T Mullen
The focus of this review is on the management of the less common sarcomas occurring in the retroperitoneal space, including solitary fibrous tumor (SFT), malignant peripheral nerve sheath tumor (MPNST), perivascular epithelioid cell tumor (PEComa), and undifferentiated pleomorphic sarcoma (UPS) of the psoas muscle. As for other retroperitoneal sarcomas, surgical resection is the mainstay of curative therapy, and multidisciplinary preoperative assessment, including percutaneous needle biopsy for histologic confirmation, is the basis for personalized management, as the surgical management, and the integration of systemic therapy and radiation therapy is unique to each histologic subtype...
November 11, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29126880/a-heart-enriched-antisense-long-non-coding-rna-regulates-the-balance-between-cardiac-and-skeletal-muscle-triadin
#17
Lu Zhang, Antonio Salgado-Somoza, Melanie Vausort, Przemyslaw Leszek, Yvan Devaux
Non-coding RNAs play major roles in cardiac pathophysiology. Recent studies reported that long non-coding RNAs (lncRNAs) are dysregulated in the failing heart, but how they contribute to heart failure development is unclear. In this study, we aimed to identify heart-enriched lncRNAs and investigate their regulation and function in the failing heart. RESULTS: Analysis of a RNA-seq dataset of 15 Caucasian tissues allowed the identification of 415 heart-enriched lncRNAs. Fifty-three lncRNAs were located on the genome in close vicinity to protein-coding genes associated with cardiac function and disease...
November 7, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29126352/fatal-myocarditis-and-rhabdomyolysis-induced-by-nivolumab-during-the-treatment-of-type-b3-thymoma
#18
Qiang Chen, Dang-Sheng Huang, Li-Wei Zhang, Yuan-Qing Li, Hong-Wei Wang, Hong-Bin Liu
Immune checkpoint inhibitors including programmed death-1 inhibitors are promising agents for many types of malignancies; however, it is still an off-label choice for type B3 thymoma. We reported for the first time a patient with type B3 thymoma developed fatal myocarditis and rhabdomyolysis after one dose of nivolumab administration. The results from myocardial and muscle biopsies revealed extensive myocyte damage, T-lymphocytic infiltration and strongly expression of PD-L1 which confirmed the nivolumab-related immune-related adverse events (irAEs)...
November 10, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/29126308/nrf2-deficiency-promotes-the-progression-from-acute-tubular-damage-to-chronic-renal-fibrosis-following-unilateral-ureteral-obstruction
#19
Weiwei Kong, Jingqi Fu, Nan Liu, Congcong Jiao, Guangying Guo, Junjun Luan, Huihui Wang, Li Yao, Lining Wang, Masayuki Yamamoto, Jingbo Pi, Hua Zhou
Background: Nuclear factor erythroid 2-related factor 2 (Nrf2) is a central mediator of cellular responses to oxidative stress. We hypothesized that Nrf2 modulates progression from acute tubular damage to renal fibrosis. We asked whether Nrf2 deletion increases renal injury in mice following unilateral ureteral obstruction (UUO). Methods: We explored the time course of renal injury and Nrf2 expression in Nrf2+/+ mice following UUO. We compared Nrf2+/+ and Nrf2-/- mice following UUO in tubular damage, transdifferentiation [vimentin, proliferating cell nuclear antigen (PCNA)], fibrosis [fibronectin, α-smooth muscle actin (SMA)], antioxidative and inflammatory responses...
November 6, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29124354/parathyroid-thyroid-and-recurrent-laryngeal-nerve-anatomy-in-an-indian-rhinoceros-rhinoceros-unicornis
#20
R Udelsman, S B Citino, M Prasad, P I Donovan, D V Fredholm
INTRODUCTION: The parathyroid gland was first identified in the Indian rhinoceros in 1849 by Sir Richard Owen. We performed a necropsy in an Indian rhinoceros, recapitulating Owen's dissection and display what appear to be the initial identification of the recurrent laryngeal nerve in situ and the anatomy and histology of the largest rhinoceros parathyroid glands yet identified. MATERIALS AND METHODS: Patrick T. Rhino, a 41-year-old Indian rhinoceros was born in 1974...
November 9, 2017: World Journal of Surgery
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