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https://www.readbyqxmd.com/read/29352070/review-of-extraocular-muscle-biopsies-and-utility-of-biopsy-in-extraocular-muscle-enlargement
#1
Edwina L Eade, Thomas G Hardy, Penelope A McKelvie, Alan A McNab
AIMS: To review the distribution of pathology in extraocular muscle (EOM) biopsies performed at a tertiary orbital centre, identify clinical and imaging features which are associated with benign or malignant diseases and indicate when biopsy is necessary for EOM enlargement. METHODS: Retrospective case series including 93 patients with EOM enlargement who underwent an EOM biopsy. Clinical, radiological and histopathological information was recorded from the medical records...
January 19, 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29351416/acute-and-chronic-resistance-training-downregulates-select-line-1-retrotransposon-activity-markers-in-human-skeletal-muscle
#2
Matthew A Romero, C Brooks Mobley, Petey W Mumford, Paul A Roberson, Cody T Haun, Wesley C Kephart, James C Healy, Darren T Beck, Kaelin C Young, Jeffrey S Martin, Christopher M Lockwood, Michael D Roberts
Herein, we examined if acute or chronic resistance exercise affected markers of skeletal muscle LINE-1 retrotransposon activity. In study 1, 10 resistance-trained college-aged males performed three consecutive daily back squat sessions, and vastus lateralis biopsies were taken prior to (Pre), 2 h following session 1 (Post1), and 3 days following session 3 (Post2). In study 2, 13 untrained college-aged males performed a full-body resistance training program (3 d/wk), and vastus lateralis biopsies were taken prior to (week 0) and ~72 h following training cessation (week 12)...
December 20, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29349035/successful-treatment-of-a-patient-with-chyluria-due-to-lymphangioleiomyomatosis-using-sirolimus
#3
Takahiko Sakaue, Masaki Tominaga, Takashi Niizeki, Yoshiaki Zaizen, Ken Matsukuma, Masamichi Koganemaru, Tomoaki Hoshino, Takuji Torimura
Lymphangioleiomyomatosis (LAM) is a rare and progressive neoplastic disease of young woman, characterized by the proliferation of abnormal smooth muscle-like cells (LAM cells) in the lungs and axial lymphatics. A 44-year-old woman was referred to our hospital because pleural effusion was detected during a health checkup. She had chylothorax, chylous ascites, and chyluria, and her computed tomography scan showed a solid tumor in the pelvis. Surgical biopsy was performed; she was diagnosed as having LAM. We could not control the fluid collection and chyluria using standard medical treatments...
2018: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/29348825/a-novel-anti-cd146-antibody-specifically-targets-cancer-cells-by-internalizing-the-molecule
#4
Marie Nollet, Jimmy Stalin, Anaïs Moyon, Waël Traboulsi, Amel Essaadi, Stéphane Robert, Nausicaa Malissen, Richard Bachelier, Laurent Daniel, Alexandrine Foucault-Bertaud, Caroline Gaudy-Marqueste, Romaric Lacroix, Aurélie S Leroyer, Benjamin Guillet, Nathalie Bardin, Françoise Dignat-George, Marcel Blot-Chabaud
CD146 is an adhesion molecule present on many tumors (melanoma, kidney, pancreas, breast, ...). In addition, it has been shown to be expressed on vascular endothelial and smooth muscle cells. Generating an antibody able to specifically recognize CD146 in cancer cells (designated as tumor CD146), but not in normal cells, would thus be of major interest for targeting tumor CD146 without affecting the vascular system. We thus generated antibodies against the extracellular domain of the molecule produced in cancer cells and selected an antibody that specifically recognizes tumor CD146...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29346717/anterior-cruciate-ligament-tear-induces-a-sustained-loss-of-muscle-fiber-force-production
#5
Jonathan P Gumucio, Kristoffer B Sugg, Elizabeth R Sibilsky Enselman, Alexis C Konja, Logan R Eckhardt, Asheesh Bedi, Christopher L Mendias
INTRODUCTION: Patients with anterior cruciate ligament (ACL) tears have persistent quadriceps strength deficits that are thought to be due to altered neurophysiological function. Our goal was to determine the changes in muscle fiber contractility independent of the ability of motor neurons to activate fibers. METHODS: We obtained quadriceps biopsies of patients undergoing ACL reconstruction, and additional biopsies one, two, and six months after surgery. Muscles fiber contractility was assessed in vitro, along with whole muscle strength testing...
January 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29345962/role-of-selected-polymorphisms-in-determining-muscle-fiber-composition-in-japanese-men-and-women
#6
Hiroshi Kumagai, Takuro Tobina, Noriko Ichinoseki-Sekine, Ryo Kakigi, Takamasa Tsuzuki, Hirofumi Zempo, Keisuke Shiose, Eiichi Yoshimura, Hideaki Kumahara, Makoto Ayabe, Yasuki Higaki, Ryo Yamada, Hiroyuki Kobayashi, Akira Kiyonaga, Hisashi Naito, Hiroaki Tanaka, Noriyuki Fuku
Genetic polymorphisms and sex differences are suggested to affect muscle fiber composition; however, no study has investigated the effects of genetic polymorphisms on muscle fiber composition with respect to sex differences. Therefore, the present study examined the effects of genetic polymorphisms on muscle fiber composition with respect to sex differences in Japanese population. The present study included 211 healthy Japanese individuals (102 men and 109 women). Muscle biopsies were obtained from the vastus lateralis to determine the proportion of myosin heavy chain isoforms (MHC-I, MHC-IIa, and MHC-IIx)...
January 18, 2018: Journal of Applied Physiology
https://www.readbyqxmd.com/read/29343183/the-acute-angiogenic-signalling-response-to-low-load-resistance-exercise-with-blood-flow-restriction
#7
Richard A Ferguson, Julie E A Hunt, Mark P Lewis, Neil R W Martin, Darren J Player, Carolin Stangier, Conor W Taylor, Mark C Turner
This study investigated protein kinase activation and gene expression of angiogenic factors in response to low-load resistance exercise with or without blood flow restriction (BFR). In a repeated measures cross-over design, six males performed four sets of bilateral knee extension exercise at 20% 1RM (reps per set = 30:15:15:continued to fatigue) with BFR (110 mmHg) and without (CON). Muscle biopsies were obtained from the vastus lateralis before, 2 and 4 h post-exercise. mRNA expression was determined using real-time RT-PCR...
January 17, 2018: European Journal of Sport Science
https://www.readbyqxmd.com/read/29342503/the-molecular-basis-for-dysregulated-activation-of-nkx2-5-in-vascular-remodelling-of-systemic-sclerosis
#8
Athina Dritsoula, Ioannis Papaioannou, Sandra G Guerra, Carmen Fonseca, Javier Martin, Ariane L Herrick, David J Abraham, Christopher P Denton, Markella Ponticos
OBJECTIVE: NKX2-5 is a homeobox transcription factor required for the formation of the heart and vessels during development, with significant postnatal downregulation and reactivation in disease states characterised by vascular remodelling. In this study, we sought to investigate mechanisms that activate NKX2-5 expression in diseased vessels, such as scleroderma associated pulmonary hypertension (SSc-PH), and identify genetic variability that potentially underlies susceptibility to specific vascular complications...
January 17, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29342313/collagen-xii-myopathy-with-rectus-femoris-atrophy-and-collagen-xii-retention-in-fibroblasts
#9
Nanna Witting, Thomas Krag, Ulla Werlauff, Morten Duno, Sofie Thuroe Oestergaard, Julia Rebecka Dahlqvist, John Vissing
INTRODUCTION: Mutation in the collagen XII gene (COL12A1) was recently reported to induce Bethlem myopathy. We describe a family affected by collagen XII-related myopathy in 3 generations. METHODS: Systematic interview, clinical examination, skin biopsies and MRI muscle. RESULTS: The phenotype was characterized by neonatal hypotonia, contractures and delayed motor development followed by resolution of contractures and a motor performance limited by reduced endurance...
January 17, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29342149/low-expression-of-il-18-and-il-18-receptor-in-human-skeletal-muscle-is-associated-with-systemic-and-intramuscular-lipid-metabolism-role-of-hiv-lipodystrophy
#10
Birgitte Lindegaard, Thine Hvid, Helene Wolsk Mygind, Ole Hartvig-Mortensen, Thomas Grøndal, Julie Abildgaard, Jan Gerstoft, Bente Klarlund Pedersen, Marcin Baranowski
INTRODUCTION: Interleukin (IL)-18 is involved in regulation of lipid and glucose metabolism. Mice lacking whole-body IL-18 signalling are prone to develop weight gain and insulin resistance, a phenotype which is associated with impaired fat oxidation and ectopic skeletal muscle lipid deposition. IL-18 mRNA is expressed in human skeletal muscle but a role for IL-18 in muscle has not been identified. Patients with HIV-infection and lipodystrophy (LD) are characterized by lipid and glucose disturbances and increased levels of circulating IL-18...
2018: PloS One
https://www.readbyqxmd.com/read/29338453/proteomic-serum-biomarkers-for-neuromuscular-diseases
#11
Sandra Murphy, Margit Zweyer, Rustam R Mundegar, Dieter Swandulla, Kay Ohlendieck
The clinical evaluation of neuromuscular symptoms often includes the assessment of altered blood proteins or changed enzyme activities. However, the blood concentration of many muscle-derived serum markers is not specific for different neuromuscular disorders and also shows alterations in the course of these diseases. Thus, the establishment of more reliable biomarker signatures for improved muscle diagnostics is required. Areas covered: To address the lack of muscle disease-specific marker molecules, mass spectrometry-based proteomics was applied to the systematic identification and biochemical characterization of new serum biomarker candidates...
January 17, 2018: Expert Review of Proteomics
https://www.readbyqxmd.com/read/29338383/the-process-of-engraftment-of-myogenic-cells-in-skeletal-muscles-of-primates-understanding-clinical-observations-and-setting-directions-in-cell-transplantation-research
#12
Daniel Skuk, Jacques P Tremblay
We studied in macaques the evolution of the intramuscular transplantation of muscle precursor cells between the time of administration and the time at which the graft is considered stable. Satellite cell-derived myoblasts labeled with ß-galactosidase were transplanted into 1 cm3 muscle regions following cell culture and transplantation protocols similar to our last clinical trials. These regions were biopsied 1 h, 1, 3, 7 d, and 3 wk later and analyzed by histology. We observed that the cell suspension leaks from the muscle bundles during injection toward the epimysium and perimysium, where most cells accumulate after transplantation...
November 2017: Cell Transplantation
https://www.readbyqxmd.com/read/29337225/bone-muscle-and-metabolic-parameters-predict-survival-in-patients-with-synchronous-bone-metastases-from-lung-cancers
#13
Lauriane Chambard, Nicolas Girard, Edouard Ollier, Jean-Charles Rousseau, François Duboeuf, Marie-Christine Carlier, Marie Brevet, Pawel Szulc, Jean-Baptiste Pialat, Julien Wegrzyn, Philippe Clezardin, Cyrille B Confavreux
BACKGROUND: Lung adenocarcinoma regularly induces bone metastases that are responsible for impaired quality of life as well as significant morbidity, including bone pain and fractures. We aimed at identifying whether bone and metabolic biomarkers were associated with the prognosis of lung adenocarcinoma patients with synchronous bone metastases. PATIENTS AND METHODS: POUMOS is a prospective cohort of patients diagnosed with lung adenocarcinoma and synchronous bone metastases...
January 11, 2018: Bone
https://www.readbyqxmd.com/read/29336361/muscle-magnetic-resonance-imaging-for-the-differentiation-of-multiple-acyl-coa-dehydrogenase-deficiency-and-immune-mediated-necrotizing-myopathy
#14
Ya-Wen Zhao, Xiu-Juan Liu, Wei Zhang, Zhao-Xia Wang, Yun Yuan
BACKGROUND: Clinically, it is difficult to differentiate multiple acyl-CoA dehydrogenase deficiency (MADD) from immune-mediated necrotizing myopathy (IMNM) because they display similar symptoms. This study aimed to determine whether muscle magnetic resonance imaging (MRI) could be used for differential diagnosis between MADD and IMNM. METHODS: The study evaluated 25 MADD patients, confirmed by muscle biopsy and ETFDH gene testing, and 30 IMNM patients, confirmed by muscle biopsy...
January 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29333908/false-positive-acetylcholine-receptor-antibodies-in-a-case-of-unilateral-chronic-progressive-external-ophthalmoplegia-case-report-and-review-of-literature
#15
Rehan Rajput, Amun Sachdev, Nizar Din, Erika Marie Damato, Aidan Murray
METHODS: We present a rare case with atypical presenting features of unilateral CPEO with a false positive Acetylcholine Receptor Antibody (AchRA) test resulting in diagnostic delay. We illustrate the unilateral nature of this case and demonstrate the caveats of performing myogenic ptosis correction in such patients. We also discuss the differential diagnosis of false positive AchRA, a test commonly performed in the investigation of ptosis. RESULTS: A 34-year old female presented with a more than 3-year history of slowly-progressive, unilateral, right-sided restriction in eye movements and ptosis...
January 15, 2018: Orbit
https://www.readbyqxmd.com/read/29333013/comparative-study-of-imprint-cytology-and-histopathology-of-soft-tissue-tumors
#16
Sujit Kumar Dutta, Senjuti Dasgupta, Nirmal Kumar Bhattacharyya, Parul Jain, Debdas Bose, Pranab Kumar Biswas
Background: The components of soft tissue are fibroblasts, collagen, vascular structures, fatty tissue, skeletal muscles, smooth muscles, and neural tissue. The real incidence of soft tissue tumors (STTs) is difficult to estimate because most of them are benign (Benign: Malignant-100:1). Aims: The aim of the present study was undertaken to note the patterns of presentation of patients with STTs and to evaluate the findings of imprint cytology (IC) and histopathological examination (HPE) of STTs...
October 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/29332568/fgf-21-as-a-potential-biomarker-for-mitochondrial-diseases
#17
Leila Motlagh Scholle, Diana Lehmann, Marcus Deschauer, Torsten Kraya, Stephan Zierz
The diagnosis of mitochondrial diseases is still challenging due to clinical and genetical heterogeneity. The development of advanced technologies including Whole-Exome-Sequencing (WES) and Whole-Genome-Sequencing (WGS) have led to improvements in genetic diagnosis. However, a reliable biomarker in serum could enhance and ease the diagnosis and indeed reduce the need for muscle biopsy. Several studies suggest Fibroblast growth factor 21 (FGF-21) as a biomarker for diagnosis in mitochondrial disorders. It is known, that in patients with mitochondrial disorders, the expression of FGF-21 gets elevated in an effort to counteract the underlying metabolic deficiency...
January 10, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#18
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29330836/pathogenesis-of-non-alcoholic-fatty-liver-disease-mediated-by-yap
#19
Ping Chen, Qihui Luo, Chao Huang, Qi Gao, Like Li, Jingfei Chen, Bing Chen, Wentao Liu, Wen Zeng, Zhengli Chen
OBJECTIVE: This study aimed to investigate the mechanism of the interaction between Yes-associated protein (YAP) and transforming growth factor-β (TGF-β)/Smad signaling pathways in the development of non-alcoholic fatty liver disease (NAFLD). METHODS: Serum samples of monkeys with biopsy-proven NAFLD and healthy normal monkeys were used to measure fasting plasma glucose (FPG), low-density lipoprotein (LDL), high-density lipoprotein (HDL), triglyceride (TG) and albumin (ALB) with the BECKMAN CX5 PRO...
January 12, 2018: Hepatology International
https://www.readbyqxmd.com/read/29330311/necrosis-in-anti-srp-and-anti-hmgcr-myopathies-role-of-autoantibodies-and-complement
#20
Yves Allenbach, Louiza Arouche-Delaperche, Corinna Preusse, Helena Radbruch, Gillian Butler-Browne, Nicolas Champtiaux, Kuberaka Mariampillai, Aude Rigolet, Peter Hufnagl, Norman Zerbe, Damien Amelin, Thierry Maisonobe, Sarah Louis-Leonard, Charles Duyckaerts, Bruno Eymard, Hans-Hilmar Goebel, Cecile Bergua, Laurent Drouot, Olivier Boyer, Olivier Benveniste, Werner Stenzel
OBJECTIVE: To characterize muscle fiber necrosis in immune-mediated necrotizing myopathies (IMNM) with anti-signal recognition particle (SRP) or anti-3-hydroxy-3-methylglutarylcoenzyme A reductase (HMGCR) antibodies and to explore its underlying molecular immune mechanisms. METHODS: Muscle biopsies from patients with IMNM were analyzed and compared to biopsies from control patients with myositis. In addition to immunostaining and reverse transcription PCR on muscle samples, in vitro immunostaining on primary muscle cells was performed...
January 12, 2018: Neurology
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