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https://www.readbyqxmd.com/read/29777058/gpr40-is-a-low-affinity-epoxyeicosatrienoic-acid-receptor-in-vascular-cells
#1
Sang Kyu Park, Anja Herrnreiter, Sandra L Pfister, Kathryn M Gauthier, Benjamin A Falck, John R Falck, William B Campbell
Endothelium-derived epoxyeicosatrienoic acids (EETs) have numerous vascular activities mediated by G protein--coupled receptors. Long-chain free fatty acids and EETs activate GPR40, prompting us to investigate the role of GPR40 in some vascular EET activities. 14,15-EET, 11,12-EET, arachidonic acid, and the GPR40 agonist GW9508 increase intracellular calcium concentrations in human GPR40-overexpressing HEK293 cells (EC50 = 0.58 ± 0.08 μM, 0.91 ± 0.08 μM, 3.9 ± 0.06 μM and 19 ± 0.37 nM, respectively)...
May 18, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29776601/echo-intensity-versus-muscle-function-correlations-in-older-adults-are-influenced-by-subcutaneous-fat-thickness
#2
Matt S Stock, Morgan Whitson, Adam M Burton, Nicole T Dawson, Eric J Sobolewski, Brennan J Thompson
Recently, an equation that allows investigators to correct echo intensity for subcutaneous fat was developed. We evaluated correlations between uncorrected and corrected echo intensity versus measures of lower-extremity function. Twenty-three older adults (11 men, 12 women; mean age = 72 y) participated. B-Mode ultrasonography was used to quantify rectus femoris echo intensity and subcutaneous fat thickness. Knee extensor isometric peak torque and rate of torque development at 200 ms (RTD200) were determined (joint angle = 90°)...
May 15, 2018: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/29774991/aggregate-mesenchymal-stem-cell-delivery-ameliorates-the-regenerative-niche-for-muscle-repair
#3
Marissa A Ruehle, Hazel Y Stevens, Aaron M Beedle, Robert E Guldberg, Jarrod A Call
Duchenne muscular dystrophy (DMD) is a severe muscle wasting disease due to the absence of the dystrophin protein from the muscle cell membrane which renders the muscle susceptible to continuous damage. In DMD patients, muscle weakness, together with cycles of degeneration/regeneration and replacement with non-contractile tissue, limit mobility and lifespan. Since the loss of dystrophin result in loss of polarity and a reduction in the number of self-renewing satellite cells, it is postulated that these patients could achieve an improved quality of life if delivered cells could restore satellite cell function...
May 18, 2018: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/29774307/bethlem-myopathy-in-a-portuguese-patient-case-report
#4
Ana Inês Martins, Cristin Maarque, Jorge Pinto-Basto, Luis Negrão
Mutations of the encoding genes of collagen VI (COL6A1, COL6A2 and COL6A3 ), are responsible for two classical phenotypes (with a wide range of severity), the Ullrich congenital muscular dystrophy (UCMD) and the Bethlem myopathy (BM). We present a male patient of 49 years old, with symptoms of muscle weakness beginning in childhood and of very slowly progression. At the age of 42, the neurological examination revealed proximal lower limb muscle weakness and contractures of fingers flexors muscles, positive Gowers manoeuvre and a waddling gait...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29774305/multi-slice-mri-reveals-heterogeneity-in-disease-distribution-along-the-length-of-muscle-in-duchenne-muscular-dystrophy
#5
Stephen M Chrzanowski, Celine Baligand, Rebecca J Willcocks, Jasjit Deol, Ilona Schmalfuss, Donovan J Lott, Michael J Daniels, Claudia Senesac, Glenn A Walter, Krista Vandenborne
Background: Duchenne muscular dystrophy (DMD) causes progressive pathologic changes to muscle secondary to a cascade of inflammation, lipid deposition, and fibrosis. Clinically, this manifests as progressive weakness, functional loss, and premature mortality. Though insult to whole muscle groups is well established, less is known about the relationship between intramuscular pathology and function. Objective: Differences of intramuscular heterogeneity across muscle length were assessed using an ordinal MRI grading scale in lower leg muscles of boys with DMD and correlated to patient's functional status...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29774303/myotonia-permanens-with-nav1-4-g1306e-displays-varied-phenotypes-during-course-of-life
#6
Frank Lehmann-Horn, Adele D'Amico, Enrico Bertini, Mauro Lomonaco, Luciano Merlini, Kevin R Nelson, Heike Philippi, Gabriele Siciliano, Frank Spaans, Karin Jurkat-Rott
Introduction: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life. Methods: Clinical neurophysiology and genetic analysis were performed. Using existing functional expression data we determined the sodium window by integration. Results: In 10 unrelated patients who were believed to have epilepsy, respiratory disease or Schwartz-Jampel syndrome, we made the same prima facie diagnosis and detected the same heterologous Nav1...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29771953/mitochondrial-disease-patient-motivations-and-barriers-to-participate-in-clinical-trials
#7
Zarazuela Zolkipli-Cunningham, Rui Xiao, Amy Stoddart, Elizabeth M McCormick, Amy Holberts, Natalie Burrill, Shana McCormack, Lauren Williams, Xiaoyan Wang, John L P Thompson, Marni J Falk
BACKGROUND: Clinical treatment trials are increasingly being designed in primary mitochondrial disease (PMD), a phenotypically and genetically heterogeneous collection of inherited multi- system energy deficiency disorders that lack effective therapy. We sought to identify motivating factors and barriers to clinical trial participation in PMD. METHODS: A survey study was conducted in two independent mitochondrial disease subject cohorts. A discovery cohort invited subjects with well-defined biochemical or molecularly- confirmed PMD followed at a single medical center (CHOP, n = 30/67 (45%) respondents)...
2018: PloS One
https://www.readbyqxmd.com/read/29771711/respiratory-muscle-effort-during-expiration-in-successful-and-failed-weaning-from-mechanical-ventilation
#8
Jonne Doorduin, Lisanne H Roesthuis, Diana Jansen, Johannes G van der Hoeven, Hieronymus W H van Hees, Leo M A Heunks
BACKGROUND: Respiratory muscle weakness in critically ill patients is associated with difficulty in weaning from mechanical ventilation. Previous studies have mainly focused on inspiratory muscle activity during weaning; expiratory muscle activity is less well understood. The current study describes expiratory muscle activity during weaning, including tonic diaphragm activity. The authors hypothesized that expiratory muscle effort is greater in patients who fail to wean compared to those who wean successfully...
May 16, 2018: Anesthesiology
https://www.readbyqxmd.com/read/29770587/an-unusual-case-of-pulmonary-hamartoma-with-predominant-bronchial-mucous-glands-in-the-peripheral-lung
#9
Rin Yamada, Akiko Tonooka, Shin-Ichiro Horiguchi, Toru Motoi, Horio Hirotoshi, Tsunekazu Hishima
Pulmonary hamartoma (PH) is the most common benign lung tumor, comprising various amounts of mescenchymal components with entrapped epithelial components. We describe an unusual case of PH in the left lower lung lobe of a 60-year-old female. The tumor was 9 × 9 mm in size, light brown, weakly glistening, and microscopically found to be composed of well-developed epithelial and mesenchymal components without atypia. Both components were intermingled but without apparent transition. Epithelial components were occupied by predominant bronchial mucous glands...
May 16, 2018: Pathology International
https://www.readbyqxmd.com/read/29770465/expression-of-myxovirus-resistance-protein-a-a-possible-marker-of-muscle-disease-activity-and-autoantibody-specificities-in-juvenile-dermatomyositis
#10
Sirisucha Soponkanaporn, Claire T Deakin, Peter W Schutz, Lucy R Marshall, Shireena A Yasin, Cerise M Johnson, Erdal Sag, Sarah L Tansley, Neil J McHugh, Lucy R Wedderburn, Thomas S Jacques
AIMS: To evaluate the relationship between expression of Myxovirus-resistance protein A (MxA) protein on muscle biopsies by immunohistochemistry and disease activity in JDM patients. Also, another aim was to investigate whether the expression of MxA is related with myositis-specific autoantibodies (MSA) status in JDM patients. METHODS: 103 patients (median aged 6.3, IQR 0.5-15.9) enrolled in the Juvenile Dermatomyositis Cohort and Biomarker Study (JDCBS). Muscle biopsies were stained with MxA and scored...
May 16, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29770365/is-the-epicardial-left-ventricular-lead-implantation-an-alternative-approach-to-percutaneous-attempt-in-patients-with-steinert-disease-a-case-report
#11
Andrea Antonio Papa, Anna Rago, Roberta Petillo, Paola D'Ambrosio, Marianna Scutifero, Marisa DE Feo, Ciro Maiello, Alberto Palladino
Steinert's disease or Myotonic Dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder characterized by myotonia, muscle and facial weakness, cataracts, cognitive, endocrine and gastrointestinal involvement, and cardiac conduction abnormalities. Although mild myocardial dysfunction may be detected in this syndrome with age, overt myocardial dysfunction with heart failure is not frequent. Cardiac resynchronization therapy is an effective treatment to improve morbidity and reduce mortality in patients with DM1 showing intra-ventricular conduction delay and/or congestive heart failure...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29770363/the-multifaceted-clinical-presentation-of-vcp-proteinopathy-in-a-greek-family
#12
George K Papadimas, George P Paraskevas, Thomas Zambelis, Chrisostomos Karagiaouris, Mara Bourbouli, Anastasia Bougea, Maggie C Walter, Nicolas U Schumacher, Sabine Krause, Elisabeth Kapaki
VCP-proteinopathy is a multisystem neurodegenerative disorder caused by mutations in valosin containing protein. Here, we report the first Greek case of VCP-proteinopathy in a 62 year old patient with a slowly progressing muscular weakness since his mid-40s and a severe deterioration during the last year. He also manifested dementia with prominent neuropsychiatric symptoms, including aggression, apathy, palilalia and obsessions. Brain MRI revealed frontal atrophy, while muscle MRI showed diffuse muscle atrophy...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29770362/study-of-anti-m%C3%A3-llerian-hormone-levels-in-patients-with-myotonic-dystrophy-type-1-preliminary-results
#13
Manuela Ergoli, Massimo Venditti, Raffaele Dotolo, Esther Picillo, Sergio Minucci, Luisa Politano
Myotonic dystrophy type 1 is a multisystemic disorder characterized by myotonia, muscle weakness and involvement of several organs and apparatus such as heart, lungs, eye, brain and endocrine system. Hypogonadism and reproductive abnormalities are frequently reported. A progressive testicular atrophy occurs in about 80% in the affected males leading to Leydig cell hyperproliferation and elevated basal follicle stimulating hormone (FSH) levels. Anti-Müllerian hormone (AMH) - a dimeric glycoprotein belonging to the super-family of transforming grow factor beta (TGF-beta) - is the earliest Sertoli cell hormone secreted in males and, together with inhibin B and FSH, is an important indicator of Sertoli cell function...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29770120/multiparametric-analysis-of-sniff-nasal-inspiratory-pressure-test-in-middle-stage-amyotrophic-lateral-sclerosis
#14
Antonio Sarmento, Andrea Aliverti, Layana Marques, Francesca Pennati, Mario Emílio Dourado-Júnior, Guilherme Fregonezi, Vanessa Resqueti
The relaxation rates and contractile properties of inspiratory muscles are altered with inspiratory muscle weakness and fatigue. This fact plays an important role in neuromuscular disorders patients and had never been extensively studied in amyotrophic lateral sclerosis (ALS). In this cross-sectional study, these parameters were investigated non-invasively through nasal inspiratory sniff pressure test (SNIP) in 39 middle stage spinal onset ALS subjects and compared with 39 healthy controls. ALS patients were also divided into three subgroups according to a decline in their percentage of predicted forced vital capacity (FVC%pred ) as well as a decline in the ALS functional rating scale score and its respiratory subscore (R-subscore) in order to determine the best parameter linked to early respiratory muscle weakness...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29768017/the-signaling-network-resulting-in-ventilator-induced-diaphragm-dysfunction
#15
Huibin Tang, Joseph B Shrager
Mechanical ventilation (MV) is a life-saving measure for those incapable of adequately ventilating or oxygenating without assistance. Unfortunately, even brief periods of MV result in diaphragm weakness (i.e., "ventilator-induced diaphragm dysfunction" - VIDD) that may render it difficult to wean the ventilator. Prolonged MV is associated with cascading complications and is a strong risk factor for death. Thus, prevention of VIDD may have a dramatic impact on mortality rates. Here, we summarized the current understanding of the pathogenic events underlying VIDD...
May 16, 2018: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/29767544/the-aerobic-resistance-inspiratory-muscle-training-hypothesis-in-heart-failure
#16
Ioannis D Laoutaris
Evidence from large multicentre exercise intervention trials in heart failure patients, investigating both moderate continuous aerobic training and high intensity interval training, indicates that the 'crème de la crème' exercise programme for this population remains to be found. The 'aerobic/resistance/inspiratory (ARIS) muscle training hypothesis in heart failure' is introduced, suggesting that combined ARIS muscle training may result in maximal exercise pathophysiological and functional benefits in heart failure patients...
January 1, 2018: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/29767228/whiplash-injury-results-in-sustained-impairments-of-cervical-muscle-function-a-one-year-prospective-controlled-study
#17
Søren Krogh, Helge Kasch
OBJECTIVE: To investigate the temporal development of neck muscle function following whiplash injuries. DESIGN: A 1-year prospective, controlled observational study. SUBJECTS: A total of 141 individuals exposed to whiplash injury due to rear-end vehicle collisions and 40 age- and sex-matched controls with acute ankle distortion. METHODS: Neck muscle strength and endurance during cervical flexion and extension were measured at 1 week, 1 month, 3 months, 6 months and 1 year after injury...
May 16, 2018: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29765992/serological-immunoglobulin-free-light-chain-profile-in-myasthenia-gravis-patients
#18
Umberto Basile, Mariapaola Marino, Cecilia Napodano, Krizia Pocino, Paolo Emilio Alboini, Francesca Gulli, Amelia Evoli, Carlo Provenzano, Emanuela Bartoccioni
Background: Serological levels of free immunoglobulin light chains (FLCs), produced in excess of heavy chains during synthesis of immunoglobulins by plasma cells, can be considered a direct marker of B cell activity in different systemic inflammatory-autoimmune conditions and may represent a useful predictor of rituximab (RTX) therapeutic efficacy, as reported for rheumatoid arthritis and systemic lupus erythematosus. Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction with antibodies (abs) targeting the acetylcholine receptor (AChR) or the muscle-specific tyrosine kinase (MuSK), inducing muscle weakness and excessive fatigability...
2018: Journal of Immunology Research
https://www.readbyqxmd.com/read/29763601/the-p-s85c-mutation-in-matr3-impairs-stress-granule-formation-in-matrin-3-myopathy
#19
Alexander Mensch, Beate Meinhardt, Nadine Bley, Stefan Hüttelmaier, Ilka Schneider, Gisela Stoltenburg-Didinger, Torsten Kraya, Tobias Müller, Stephan Zierz
Matrin-3-related distal myopathy is characterized mainly by progressive distal weakness of the lower extremities. The mutation p.S85C in matrin-3 (MATR3) has been identified as disease-causing alteration, whereas the specific molecular mechanisms leading to the muscle disease have not been elucidated. In the present study, muscle biopsy samples from six patients and fibroblasts from four patients harboring p.S85C mutation in MATR3 were analyzed. No specific changes in matrin-3 localization or expression were observed...
May 12, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29763467/natural-disease-history-of-the-dy2j-mouse-model-of-laminin-%C3%AE-2-merosin-deficient-congenital-muscular-dystrophy
#20
S Pasteuning-Vuhman, K Putker, C L Tanganyika-de Winter, J W Boertje-van der Meulen, L van Vliet, M Overzier, J J Plomp, A Aartsma-Rus, M van Putten
Merosin deficient congenital muscular dystrophy 1A (MDC1A) is a very rare autosomal recessive disorder caused by mutations in the LAMA2 gene leading to severe and progressive muscle weakness and atrophy. Although over 350 causative mutations have been identified for MDC1A, no treatment is yet available. There are many therapeutic approaches in development, but the lack of natural history data of the mouse model and standardized outcome measures makes it difficult to transit these pre-clinical findings to clinical trials...
2018: PloS One
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