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Muscle biopsy

Daniel Freund, Silke Brilloff, Tamer Ghazy, Stephan Kirschner, Gabor Gäbel, Irene Hinterseher, Norbert Weiss, Adrian Mahlmann
BACKGROUND: Microarray analysis has been carried out in this pilot study to compare delineated gene expression profiles in the biopsies of skeletal muscle taken from patients with chronic critical limb ischaemia (CLI) and non-ischaemic control subjects. PATIENTS AND METHODS: Biopsy of gastrocnemius muscle was obtained from six patients with unreconstructed CLI referred for surgical major amputation. As control, biopsies of six patients undergoing elective knee arthroplasty without evidence of peripheral arterial occlusive disease were taken...
March 20, 2018: VASA. Zeitschrift Für Gefässkrankheiten
Joshua J Todd, Muslima S Razaqyar, Jessica W Witherspoon, Tokunbor A Lawal, Ami Mankodi, Irene C Chrismer, Carolyn Allen, Mary D Meyer, Anna Kuo, Monique S Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G Bönnemann, James J Dowling, Katherine G Meilleur
The ryanodine receptor 1-related congenital myopathies ( RYR1 -RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contractures to scoliosis, ophthalmoplegia, and respiratory involvement. Although there is currently no FDA-approved treatment for RYR1- RM, our group recently conducted the first clinical trial in this patient population (NCT02362425). This study aimed to characterize novel RYR1 variants with regard to genetic, laboratory, muscle magnetic resonance imaging (MRI), and clinical findings...
2018: Frontiers in Neurology
Monica Traverso, Stefania Assereto, Serena Baratto, Michele Iacomino, Marina Pedemonte, Maria Cristina Diana, Marta Ferretti, Paolo Broda, Carlo Minetti, Elisabetta Gazzerro, Francesca Madia, Claudio Bruno, Federico Zara, Chiara Fiorillo
We present a 13-year-old patient with persistent increase of serum Creatine Kinase (CK) and myalgia after exertion. Skeletal muscle biopsy showed marked reduction of dystrophin expression leading to genetic analysis of DMD gene by MLPA, which detected a single deletion of exon 78. To the best of our knowledge, DMD exon 78 deletion has never been described in literature and, according to prediction, it should lead to loss of reading frame in the dystrophin gene. To further assess the actual effect of exon 78 deletion, we analysed cDNA from muscle mRNA...
March 19, 2018: Journal of Human Genetics
Joni A Mettler, Dillon M Magee, Barbara M Doucet
PURPOSE: Neuromuscular electrical stimulation (NMES) is commonly used in rehabilitation settings to increase muscle mass and strength. However, the effects of NMES on muscle growth are not clear and no human studies have compared anabolic signaling between low-frequency (LF-) and high-frequency (HF-) NMES. The purpose of this study was to determine the skeletal muscle anabolic signaling response to an acute bout of LF- and HF-NMES. METHODS: Eleven young healthy volunteers (6 men; 5 women) received an acute bout of LF- (20 Hz) and HF- (60 Hz) NMES...
March 16, 2018: Medicine and Science in Sports and Exercise
Ryan Rosenberry, Susie Chung, Michael D Nelson
Exercise represents a major hemodynamic stress that demands a highly coordinated neurovascular response in order to match oxygen delivery to metabolic demand. Reactive hyperemia (in response to a brief period of tissue ischemia) is an independent predictor of cardiovascular events and provides important insight into vascular health and vasodilatory capacity. Skeletal muscle oxidative capacity is equally important in health and disease, as it determines the energy supply for myocellular processes. Here, we describe a simple, non-invasive approach using near-infrared spectroscopy to assess each of these major clinical endpoints (reactive hyperemia, neurovascular coupling, and muscle oxidative capacity) during a single clinic or laboratory visit...
February 20, 2018: Journal of Visualized Experiments: JoVE
Takako Miyamae, Takuma Hara, Aki Hanaya, Yumi Tani, Takayuki Kishi, Hisashi Yamanaka
A 10-year-old girl manifested persistent fever, skin rash, leg pain, fatigue, and joint pain. Based on muscle weakness, elevated muscle-derived enzymes, magnetic resonance imaging, and skin biopsy results, the diagnosis was juvenile idiopathic inflammatory myopathies (JIIM). Chest CT was normal; the anti-melanoma differentiation-associated protein-5 (anti-MDA5) autoantibody was positive. Initial manifestations subsided after prednisolone (PSL) and methotrexate treatment. After the PSL dosage was decreased, the patient presented with metacarpophalangeal (MCP) joint pain and swelling in both index fingers, synovial fluid, and signals on power Doppler ultrasound...
2018: Case Reports in Rheumatology
Mandy Berndt-Paetz, Luise Herbst, Annett Weimann, Andreas Gonsior, Jens-Uwe Stolzenburg, Jochen Neuhaus
PURPOSE: Muscarinic acetylcholine receptors (mAChRs) regulate a number of important physiological functions. Alteration of mAChR expression or function has been associated in the etiology of several pathologies including functional bladder disorders (e.g bladder pain syndrome/interstitial cystitis - BPS/IC). In a previous study we found specific mAChR expression patterns associated with BPS/IC, while correlation between protein and gene expression was lacking. Posttranslational regulatory mechanisms, e...
March 15, 2018: Acta Histochemica
Zhong-Min Wang, Xiaoyan Leng, María Laura Messi, Seung J Choi, Anthony P Marsh, Barbara Nicklas, Osvaldo Delbono
Background: Previous studies support beneficial effects of both resistance exercise training (RT) and caloric restriction (CR) on skeletal muscle strength and physical performance. The goal of this study was to determine the effects of adding CR to RT on single-muscle fiber contractility responses to RT in older overweight and obese adults. Methods: We analyzed contractile properties in 1,253 single myofiber from muscle biopsies of the vastus lateralis, as well as physical performance and thigh muscle volume, in 31 older (65-80 yrs), overweight or obese (body mass index= 27-35 kg/m2) men (n=19) and women (n=12) who were randomly assigned to a standardized, progressive RT intervention with CR (RT+CR; n=15) or without CR (RT; n=16) for 5 months...
March 13, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
Jared M Dickinson, Andrew C D'Lugos, Marcus A Naymik, Ashley L Siniard, Amanda J Wolfe, Donald P Curtis, Matthew J Huentelman, Chad C Carroll
Aerobic (AE) and resistance exercise (RE) elicit unique adaptations in skeletal muscle that have distinct implications for health and performance. The purpose of this study was to identify the unique transcriptome response of skeletal muscle to acute AE and RE. In a counter-balanced, cross-over design, six healthy, recreationally active young men (27{plus minus}3y) completed acute AE (40 min cycling, ~70% maximal HR) and RE (8 sets, 10 reps, ~65% 1RM), separated by ~1wk. Muscle biopsies ( vastus lateralis) were obtained before and at 1 and 4h post exercise...
March 15, 2018: Journal of Applied Physiology
Suk Young Lee, Sang Hee Choi
Intravesical BCG therapy after transurethral resection of bladder tumor (TURB) is considered the most effective treatment for prophylaxis against the recurrence of high risk non-muscle invasive bladder cancer, and generally well tolerated and infectious complication are rare. We reported a case of granulomatous prostatitis is a patient who had undergone intravesical BCG therapy due to non-invasive superficial urothelial carcinoma of bladder. This patient was diagnosed by prostate biopsy because of PSA elevation without any other voiding symptoms and abnormal abscess pocket in transrectal ultrasonography...
March 2018: Urology Case Reports
Jiaze Tan, Haitao Yang, Jingchuan Fan, Yulan Fan, Fei Xiao
OBJECTIVES: Neutral lipid storage disease with myopathy (NLSDM) is a rare metabolic myopathy occurring owing to mutations in the patatin like phospholipase domain containing 2 (PNPLA2) gene. Till date, less than 50 patients with PNPLA2 mutations have been reported. In this study, we describe the clinical, pathological, and genetic findings, and muscle magnetic resonance imaging (MRI) changes in four Chinese patients with NLSDM. PATIENTS AND METHODS: Peripheral blood smears were stained using Wright's stain...
March 5, 2018: Clinical Neurology and Neurosurgery
Robert James Shute, Matthew William Heesch, Roksana Barbara Zak, Jodi L Kreiling, Dustin R Slivka
PGC-1α mRNA is increased with both exercise and exposure to cold temperature. However, transcriptional control has yet to be examined during exercise in the cold. Additionally, the need for environmental cold exposure after exercise may not be a practical recovery modality. The purpose of this study was to determine mitochondrial-related gene expression and transcriptional control of PGC-1α following exercise in a cold compared to room temperature environment. Eleven recreationally trained males completed two 1-h cycling bouts in a cold (7 {degree sign}C) or room temperature (20 {degree sign}C) environment followed by 3 h of supine recovery in standard room conditions...
March 14, 2018: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
Daniel Skuk, Jacques P Tremblay
Background: Transplantation of myogenic cells has potential applications in the treatment of muscle pathologies. Excluding purely autologous cell transplantation, graft viability depends on an adequate control of acute rejection (AR). To contribute in understanding AR in this context, we analyzed whether de novo circulating antibodies against donor's cells are detected during induced AR of graft-derived myofibers in nonhuman primates. Methods: We allotransplanted satellite cell-derived myoblasts in macaques immunosuppressed with tacrolimus...
December 2017: Transplantation Direct
Mackenzie Haines, Sarah K McKinley-Barnard, Thomas L Andre, Josh J Gann, Paul S Hwang, Darryn S Willoughby
This study sought to determine if the differences in serum estradiol we have previously observed to occur during the mid-follicular (MF) and mid-luteal (ML) phases of the female menstrual cycle could be attributed to estrogen-induced receptor activation and subsequent effects on myogenic-related genes which may otherwise impact muscle regeneration in response to eccentric exercise. Twenty-two physically-active females (20.9 ± 1.4 years, 63.5 ± 9.0 kg, 1.65 ± 0.08 m) underwent an eccentric exercise bout of the knee extensors during the MF and ML phases of their 28-day menstrual cycle...
March 2018: Journal of Sports Science & Medicine
Olivier Delalande, Anne-Elisabeth Molza, Raphael Dos Santos-Morais, Angélique Chéron, Émeline Pollet, Céline Raguenes-Nicol, Christophe Tascon, Emmanuel Giudice, Marine Guilbaud, Aurélie Nicolas, Arnaud Bondon, France Leturcq, Nicolas Férey, Marc Baaden, Javier Perez, Pierre Roblin, France Piétri-Rouxel, Jean-François Hubert, Mirjam Czjzek, Elisabeth Le Rumeur
Dystrophin, encoded by the DMD gene, is critical for maintaining plasma membrane integrity during muscle contraction events. Mutations in the DMD gene disrupting the reading frame prevent dystrophin production and result in the high severe Duchenne muscular dystrophy (DMD); in-frame internal deletions allow production of partly functional internally deleted dystrophin and result in the less severe Becker muscular dystrophy (BMD). Many known BMD deletions occur in dystrophin's central domain, generally considered to be a monotonous rod-shaped domain based on the knowledge of spectrin-family proteins...
March 13, 2018: Journal of Biological Chemistry
Zona Batacchi, Nicole K Andeen, Subbulaxmi Trikudanathan
A 62-year-old woman presented with an 11-month history of worsening nasal symptoms of rhinorrhoea, anosmia, nasal congestion and intermittent epistaxis. MRI revealed a large mass in the upper nasal vault. Biopsy of the mass revealed an olfactory neuroblastoma. While waiting resection, she acutely developed severe proximal muscle weakness, lethargy and lower extremity oedema. Blood glucose was elevated, and hypokalaemic metabolic alkalosis was noted. Elevated serum cortisol level of 95.7 µg/dL (8.7-22.4 µg/dL) and markedly elevated 24-hour urinary cortisol level of 6962...
March 13, 2018: BMJ Case Reports
José V Subiela, Sonia H Torres, Juan B De Sanctis, Noelina Hernández
There is evidence that myocardial infarction (MI) patients have an inflammatory process that includes skeletal muscles, and exercise has been reported to reduce some inflammatory markers. The aim of this work was to study NO and some inflammatory markers in quadriceps muscle of MI patients before and after cardiac rehabilitation. Muscle biopsy was obtained in17 MI patients before and after CR and only once in 11 healthy subjects. Several cardiorespiratory and metabolic parameters were evaluated and skeletal muscle levels of nitric oxide synthases, nitrate, nitrite, nitrotyrosine, tumor necrosis factor alpha (TNF-α), transforming growth factor beta (TGF-β), interleukin- 6 (IL-6) and CD154...
March 10, 2018: Nitric Oxide: Biology and Chemistry
Hiroyuki Motoyama, Akihiro Tamori, Shoji Kubo, Sawako Uchida-Kobayashi, Shigekazu Takemura, Shogo Tanaka, Satoko Ohfuji, Yuga Teranishi, Ritsuzo Kozuka, Etsushi Kawamura, Atsushi Hagihara, Hiroyasu Morikawa, Masaru Enomoto, Yoshiki Murakami, Norifumi Kawada
BACKGROUND: Hepatocellular carcinoma (HCC) develops in some patients who achieve sustained virological response (SVR) against hepatitis C virus (HCV) infection via anti-HCV therapy. To examine the pathogenesis of HCC development after HCV eradication, histopathological changes and clinical markers were evaluated in SVR patients. METHODS: Of 654 SVR patients treated with interferon (IFN)-based therapies, 34 patients who had undergone liver biopsy before initiating IFN therapy and after SVR achievement were enrolled: 11 patients with HCC and 23 patients without HCC (male/female, 9/2 and 8/15, respectively: age, 58 ± 5 and 54 ± 11 years, respectively)...
2018: PloS One
Caoileann H Murphy, Mahalakshmi Shankaran, Tyler A Churchward-Venne, Cameron J Mitchell, Nathan M Kolar, Louise M Burke, John A Hawley, Amira Kassis, Leonidas G Karagounis, Kelvin Li, Chelsea King, Marc Hellerstein, Stuart M Phillips
We determined how the pattern of protein intake and resistance training (RT) influenced longer-term (2-wk) integrated myofibrillar protein synthesis (MyoPS) during energy restriction (ER). MyoPS and proteome kinetics were measured during 2-wk of ER alone and 2-wk of ER plus RT (ER + RT) in overweight/obese older men. Participants were randomized to consume dietary protein in a balanced (BAL: 25% daily protein/meal x 4 meals) or skewed (SKEW: 7:17:72:4% daily protein/meal) pattern (n = 10/group). Participants ingested D2 O during the consecutive 2-wk periods, and skeletal muscle biopsies and serum were obtained at the beginning and conclusion of ER and ER + RT...
March 12, 2018: Journal of Physiology
Kahyun Kim, Hyun Sik Gong, Jae-Young Lim, Jong Hee Kim, Goo Hyun Baek
We evaluated the vitamin D receptor (VDR) expression in the forearm flexor muscle of women with distal radius fracture. High VDR expression was associated with low appendicular lean mass index. INTRODUCTION: We aimed to evaluate the relationship between the VDR expression in the muscle cell and the muscle mass in women with a distal radius fracture (DRF). METHODS: We prospectively recruited 45 women over 50 years of age (mean age, 66 years) with DRF and acquired biopsy of the forearm flexor muscle...
March 12, 2018: Archives of Osteoporosis
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