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Muscle atrophy

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https://www.readbyqxmd.com/read/28229309/nusinersen-first-global-approval
#1
Sheridan M Hoy
Spinal muscular atrophy (SMA) is a rare autosomal recessive disorder characterized by muscle atrophy and weakness resulting from motor neuron degeneration in the spinal cord and brainstem. It is most commonly caused by insufficient levels of survival motor neuron (SMN) protein (which is critical for motor neuron maintenance) secondary to deletions or mutations in the SMN1 gene. Nusinersen (SPINRAZA™) is a modified antisense oligonucleotide that binds to a specific sequence in the intron, downstream of exon 7 on the pre-messenger ribonucleic acid (pre-mRNA) of the SMN2 gene...
February 22, 2017: Drugs
https://www.readbyqxmd.com/read/28229243/correlation-of-insulin-resistance-and-motor-function-in-spinal-and-bulbar-muscular-atrophy
#2
Hideaki Nakatsuji, Amane Araki, Atsushi Hashizume, Yasuhiro Hijikata, Shinichiro Yamada, Tomonori Inagaki, Keisuke Suzuki, Haruhiko Banno, Noriaki Suga, Yohei Okada, Manabu Ohyama, Tohru Nakagawa, Ken Kishida, Tohru Funahashi, Iichiro Shimomura, Hideyuki Okano, Masahisa Katsuno, Gen Sobue
This study aimed to evaluate various metabolic parameters in patients with spinal and bulbar muscular atrophy (SBMA), to investigate the association between those indices and disease severity, and to explore the underlying molecular pathogenesis. We compared the degree of obesity, metabolic parameters, and blood pressure in 55 genetically confirmed SBMA patients against those in 483 age- and sex-matched healthy control. In SBMA patients, we investigated the correlation between these factors and motor functional indices...
February 22, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28228795/bone-scintigraphy-of-severe-hypercalcemia-following-simvastatin-induced-rhabdomyolysis
#3
Zubair B Mirza, Sophia Hu, Louis F Amorosa
Simvastatin induced rhabdomyolysis with renal failure is a well reported clinical entity with hyperkalemia recognized as a life threatening risk. The risk of delayed hypercalcemia during the recovery of renal function is not well appreciated as this varies in severity and can be caused by multiple mechanisms. We present a patient with high dose simvastatin induced rhabdomyolysis leading to late onset of severe hypercalcemia due to calcium phosphate deposition in muscles diagnosed by distinctive bone scintigraphy...
September 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28228365/isoquinoline-alkaloids-from-coptis-japonica-stimulate-the-myoblast-differentiation-via-p38-map-kinase-and-akt-signaling-pathway
#4
Heyjin Lee, Le Thi Tuong, Ji Hye Jeong, Sang-Jin Lee, Gyu-Un Bae, Jae-Ha Ryu
To overcome the muscle atrophy, such as cachexia and sarcopenia, we tried to find myogenic agents from medicinal plants. From myogenic extract of Coptis japonica, we purified six isoquinoline alkaloids and evaluated their effects on transactivation of myoD and MHC expression in C2C12 cells during differentiation process. Among obtained compounds, magnoflorine most efficiently enhanced the myoblast differentiation by activating the p38 MAP kinase and Akt pathway, and also increased the number of multinucleated and cylinder-shaped myotubes...
February 4, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28225888/local-inhibition-of-nitrergic-activity-in-tenotomized-rats-accelerates-muscle-regeneration-by-increasing-fiber-area-and-decreasing-central-core-lesions
#5
A D Seabra, S A S Moraes, E J O Batista, T B Garcia, M C Souza, K R M Oliveira, A M Herculano
Muscular atrophy is a progressive degeneration characterized by muscular proteolysis, loss of mass and decrease in fiber area. Tendon rupture induces muscular atrophy due to an intrinsic functional connection. Local inhibition of nitric oxide synthase (NOS) by Nω-nitro-L-arginine methyl ester (L-NAME) accelerates tendon histological recovery and induces functional improvement. Here we evaluate the effects of such local nitrergic inhibition on the pattern of soleus muscle regeneration after tenotomy. Adult male Wistar rats (240 to 280 g) were divided into four experimental groups: control (n=4), tenotomized (n=6), vehicle (n=6), and L-NAME (n=6)...
February 20, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
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
#6
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/28224077/electrical-impedance-tomography-and-trans-pulmonary-pressure-measurements-in-a-patient-with-extreme-respiratory-drive
#7
Atsuko Shono, Peter Somhorst, Diederik Gommers
Preserving spontaneous breathing during mechanical ventilation prevents muscle atrophy of the diaphragm, but may lead to ventilator induced lung injury (VILI). We present a case in which monitoring of trans-pulmonary pressure and ventilation distribution using Electrical Impedance Tomography (EIT) provided essential information for preventing VILI.
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28222529/progressive-motor-deficit-is-mediated-by-the-denervation-of-neuromuscular-junctions-and-axonal-degeneration-in-transgenic-mice-expressing-mutant-p301s-tau-protein
#8
Zhuoran Yin, Femke Valkenburg, Betty E Hornix, Ietje Mantingh-Otter, Xingdong Zhou, Muriel Mari, Fulvio Reggiori, Debby Van Dam, Bart J L Eggen, Peter P De Deyn, Erik Boddeke
Tauopathies include a variety of neurodegenerative diseases associated with the pathological aggregation of hyperphosphorylated tau, resulting in progressive cognitive decline and motor impairment. The underlying mechanism for motor deficits related to tauopathy is not yet fully understood. Here, we use a novel transgenic tau mouse line, Tau 58/4, with enhanced neuron-specific expression of P301S mutant tau to investigate the motor abnormalities in association with the peripheral nervous system. Using stationary beam, gait, and rotarod tests, motor deficits were found in Tau 58/4 mice already 3 months after birth, which deteriorated during aging...
February 10, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222403/muscular-effects-of-vitamin-d-in-young-athletes-and-non-athletes-and-in-the-elderly
#9
REVIEW
Nikolaos E Koundourakis, Pavlina D Avgoustinaki, Niki Malliaraki, Andrew N Margioris
Muscles are major targets of vitamin D. Exposure of skeletal muscles to vitamin D induces the expression of multiple myogenic transcription factors enhancing muscle cell proliferation and differentiation. At the same time vitamin D suppresses the expression of myostatin, a negative regulator of muscle mass. Moreover, vitamin D increases the number of type II or fast twitch muscle cells and in particular that of type IIA cells, while its deficiency causes type IIA cell atrophy. Furthermore, vitamin D supplementation in young males with low vitamin D levels increases the percentage of type IIA fibers in muscles, causing an increase in muscular high power output...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28221306/whole-exome-sequencing-identifies-atypical-welander-distal-myopathy-in-patient
#10
Jennifer Gass, Patrick Blackburn, Jessica Jackson, Kimberly Harris, Duygu Selcen, Elliot Dimberg, Paldeep Atwal
Welander distal myopathy is a rare autosomal dominant disorder characterized by muscle weakness in the hands and feet. Exome sequencing of affected families discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main genetic cause of Welander distal myopathy. TIA-1 encodes an RNA-binding protein which serves as a key component of stress granules. This protein also regulates splicing and translation of mRNA. Our patient developed progressive weakness in his hands and feet during his late 40s that was misdiagnosed as a neuropathy that caused muscle atrophy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28218988/toxicological-effects-during-and-following-persistent-insulin-induced-hypoglycaemia-in-healthy-euglycaemic-rats
#11
Vivi F H Jensen, Anne-Marie Mølck, Line O Berthelsen, Lene Alifrangis, Lene Andersen, Melissa Chapman, Jens Lykkesfeldt, Ingrid B Bøgh
New insulin analogues with a longer duration of action and a "peakless" pharmacokinetic profile have been developed to improve efficacy, safety and convenience for diabetic patients. During non-clinical development, according to regulatory guidelines, these analogues are tested in healthy euglycaemic rats rendering them persistently hypoglycaemic. Little is known about the effect of persistent (24 hr/day) insulin-induced hypoglycaemia (IIH) in rats, complicating interpretation of results in pre-clinical studies with new longer-acting insulin analogues...
February 20, 2017: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/28218388/the-new-neuromuscular-disease-related-with-defects-in-the-asc-1-complex-report-of-a-second-case-confirms-ascc1-involvement
#12
Jorge Oliveira, Márcia Martins, Rosário Pinto Leite, Mário Sousa, Rosário Santos
Next-generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested negative. A male sibling was subsequently born with the same clinical presentation. Whole-exome sequencing was performed with variant filtering assuming a recessive disease model...
February 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28217037/lung-injury-induced-skeletal-muscle-wasting-in-aged-mice-is-linked-to-alterations-in-long-chain-fatty-acid-metabolism
#13
D Clark Files, Amro Ilaiwy, Traci L Parry, Kevin W Gibbs, Chun Liu, James R Bain, Osvaldo Delbono, Michael J Muehlbauer, Monte S Willis
INTRODUCTION: Older patients are more likely to acquire and die from acute respiratory distress syndrome (ARDS) and muscle weakness may be more clinically significant in older persons. Recent data implicate muscle ring finger protein 1 (MuRF1) in lung injury-induced skeletal muscle atrophy in young mice and identify an alternative role for MuRF1 in cardiac metabolism regulation through inhibition of fatty acid oxidation. OBJECTIVES: To develop a model of lung injury-induced muscle wasting in old mice and to evaluate the skeletal muscle metabolomic profile of adult and old acute lung injury (ALI) mice...
August 2016: Metabolomics: Official Journal of the Metabolomic Society
https://www.readbyqxmd.com/read/28214172/does-successful-rotator-cuff-repair-improve-muscle-atrophy-and-fatty-infiltration-of-the-rotator-cuff-a-retrospective-magnetic-resonance-imaging-study-performed-shortly-after-surgery-as-a-reference
#14
Noritaka Hamano, Atsushi Yamamoto, Hitoshi Shitara, Tsuyoshi Ichinose, Daisuke Shimoyama, Tsuyoshi Sasaki, Tsutomu Kobayashi, Yohei Kakuta, Toshihisa Osawa, Kenji Takagishi
BACKGROUND: Muscle atrophy and fatty infiltration in the rotator cuff muscles are often observed in patients with chronic rotator cuff tears. The recovery from these conditions has not been clarified. METHODS: Ninety-four patients were included in this study. The improvement in muscle atrophy and fatty infiltration in successfully repaired rotator cuff tears was evaluated by magnetic resonance imaging at 1 year and 2 years after surgery and was compared with muscle atrophy and fatty infiltration observed on magnetic resonance imaging at 2 weeks after surgery to discount any changes due to the medial retraction of the torn tendon...
February 15, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28213864/electrical-stimulation-of-denervated-rat-skeletal-muscle-ameliorates-bone-fragility-and-muscle-loss-in-early-stage-disuse-musculoskeletal-atrophy
#15
Hiroyuki Tamaki, Kengo Yotani, Futoshi Ogita, Keishi Hayao, Kouki Nakagawa, Kazuhiro Sugawara, Hikari Kirimoto, Hideaki Onishi, Norikatsu Kasuga, Noriaki Yamamoto
We tested whether daily muscle electrical stimulation (ES) can ameliorate the decrease in cortical bone strength as well as muscle and bone geometric and material properties in the early stages of disuse musculoskeletal atrophy. 7-week-old male F344 rats were randomly divided into three groups: age-matched control group (Cont); a sciatic denervation group (DN); and a DN + direct electrical stimulation group (DN + ES). Denervated tibialis anterior (TA) muscle in the DN + ES group received ES with 16 mA at 10 Hz for 30 min/day, 6 days/week...
February 17, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28210174/anterior-segment-optical-coherence-tomography-changes-with-introduction-and-discontinuation-of-tamsulosin
#16
Abdullah Al-Kharashi, Amir A Azimzadeh, Jerry Leung, Sidney Radomski, Lenny Radomski, Wai-Ching Lam
PURPOSE: The aim of this study was to quantify changes and reversibility in pupil dilation and iris dilator muscle region thickness associated with introduction and subsequent discontinuation of tamsulosin in patients naïve to this drug with the aid of an anterior OCT system. METHODS: The study was carried out on 7 patients (14 eyes) naïve to tamsulosin and with benign prostatic hypertrophy (BHP). Measurements taken by Vistante OCT were done pre- and post-dilation of the following: pupil size, iris dilator muscle region (DMR) thickness, sphincter muscle region (SMR) thickness, and anterior chamber depth...
July 2016: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/28209439/post-polio-syndrome-cases-report-and-review-of-literature
#17
Żanna Pastuszak, Adam Stępień, Kazimierz Tomczykiewicz, Renata Piusińska-Macoch, Dariusz Galbarczyk, Agnieszka Rolewska
It is estimated that around 15 million people survived polio infection worldwide since early twentieth century. In 1950 effective vaccination was used for first time. Since that time number of affected people decreased. The last epidemic of Haine-Medine disease in Poland was in 1950s. Another rare cases of infections were observed till 1970s. About at least 15 years after polio virus infection, slowly progressive muscle limbs paresis with muscle atrophy, joints pain, paresthesia were observed in polio survivors...
February 3, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28209438/excessive-daytime-sleepiness-in-a-patient-with-coexisting-myotonic-dystrophy-type-1-myasthenia-gravis-and-graves-disease
#18
Katarzyna Kapica-Topczewska, Robert Pogorzelski, Joanna Tarasiuk, Wiesław Drozdowski, Piotr Lewczuk, Alina Kułakowska
A 41-year-old female with history of Graves' disease, bilateral cataract, paroxysmal atrial fibrillation was admitted because of muscle weakness, daytime sleepiness, fatigability, drowsiness, bilateral eyelid ptosis, descending of head and lower jaw. On neurological examination the patient was presented with muscle weakness, muscle atrophy (in face and sternocleidomastoid muscles), features of myotonia and apocamnosis (orbicular muscles). Electromyography revealed myopathic changes, myotonic and pseudomyotonic discharges, positive repetitive nerve stimulation test in proximal muscles...
February 3, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28207840/using-the-hephaistos-orthotic-device-to-study-countermeasure-effectiveness-of-neuromuscular-electrical-stimulation-and-dietary-lupin-protein-supplementation-a-randomised-controlled-trial
#19
Jochen Zange, Kathrin Schopen, Kirsten Albracht, Darius A Gerlach, Petra Frings-Meuthen, Nicola A Maffiuletti, Wilhelm Bloch, Jörn Rittweger
PURPOSE: The present study investigated whether neuromuscular electrical stimulation for 20 min twice a day with an electrode placed over the soleus muscle and nutritional supplementation with 19 g of protein rich lupin seeds can reduce the loss in volume and strength of the human calf musculature during long term unloading by wearing an orthotic unloading device. METHODS: Thirteen healthy male subjects (age of 26.4 ± 3.7 years) wore a Hephaistos orthosis one leg for 60 days during all habitual activities...
2017: PloS One
https://www.readbyqxmd.com/read/28207658/association-between-paraspinal-muscle-morphology-clinical-symptoms-and-functional-status-in-patients-with-degenerative-cervical-myelopathy
#20
Maryse Fortin, Octavian Dobrescu, Matthew Courtemanche, Carolyn J Sparrey, Carlo Santaguida, Michael G Fehlings, Michael H Weber
STUDY DESIGN: A cross-sectional study. OBJECTIVE: The aim of this study was to assess fatty infiltration and asymmetry of the multifidus (MF), semispinalis cervicis (SCer), semispinalis capitis (SCap), and splenius capitis (SPL) muscles in patients with degenerative cervical myelopathy (DCM), and evaluate their correlations with clinical symptoms and functional scores. SUMMARY OF BACKGROUND DATA: Cervical muscle alterations have been reported in patients with chronic neck pain, but the assessment of cervical muscle morphology has been overlooked in patients with DCM...
February 15, 2017: Spine
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