keyword
MENU ▼
Read by QxMD icon Read
search

Muscular chains

keyword
https://www.readbyqxmd.com/read/28711173/presymptomatic-diagnosis-of-spinal-muscular-atrophy-through-newborn-screening
#1
Yin-Hsiu Chien, Shu-Chuan Chiang, Wen-Chin Weng, Ni-Chung Lee, Ching-Jie Lin, Wu-Shiun Hsieh, Wang-Tso Lee, Yuh-Jyh Jong, Tsang-Ming Ko, Wuh-Liang Hwu
OBJECTIVE: To demonstrate the feasibility of presymptomatic diagnosis of spinal muscular atrophy (SMA) through newborn screening (NBS). STUDY DESIGN: We performed a screening trial to assess all newborns who underwent routine newborn metabolic screening at the National Taiwan University Hospital newborn screening center between November 2014 and September 2016. A real-time polymerase chain reaction (RT-PCR) genotyping assay for the SMN1/SMN2 intron 7 c.888+100A/G polymorphism was performed to detect homozygous SMN1 deletion using dried blood spot (DBS) samples...
July 12, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28683291/lack-of-glycogenin-causes-glycogen-accumulation-and-muscle-function-impairment
#2
Giorgia Testoni, Jordi Duran, Mar García-Rocha, Francisco Vilaplana, Antonio L Serrano, David Sebastián, Iliana López-Soldado, Mitchell A Sullivan, Felipe Slebe, Marta Vilaseca, Pura Muñoz-Cánoves, Joan J Guinovart
Glycogenin is considered essential for glycogen synthesis, as it acts as a primer for the initiation of the polysaccharide chain. Against expectations, glycogenin-deficient mice (Gyg KO) accumulate high amounts of glycogen in striated muscle. Furthermore, this glycogen contains no covalently bound protein, thereby demonstrating that a protein primer is not strictly necessary for the synthesis of the polysaccharide in vivo. Strikingly, in spite of the higher glycogen content, Gyg KO mice showed lower resting energy expenditure and less resistance than control animals when subjected to endurance exercise...
July 5, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/28670500/peculiar-clinical-presentation-of-coxsackievirus-b4-infection-neonatal-restrictive-cardiomyopathy
#3
Pauline Le Van Quyen, Philippe Desprez, Angelo Livolsi, Véronique Lindner, Samira Fafi-Kremer, Pauline Helms, Maria Cristina Antal
Introduction  Restrictive cardiomyopathy in fetuses and neonates is extremely rare and has a poor outcome. Its etiology in neonates is elusive: metabolic diseases (e.g., Gaucher, Hurler syndrome), neuromuscular disorders (e.g., muscular dystrophies, myofibrillar myopathies), or rare presentation of genetic syndromes (e.g., Coffin-Lowry syndrome) account for a minority of the cases, the majority remaining idiopathic. Case Study  We report the case of a 17-day-old male infant presenting cardiogenic shock following a restrictive dysfunction of the left ventricle...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28652350/chimpanzee-super-strength-and-human-skeletal-muscle-evolution
#4
Matthew C O'Neill, Brian R Umberger, Nicholas B Holowka, Susan G Larson, Peter J Reiser
Since at least the 1920s, it has been reported that common chimpanzees (Pan troglodytes) differ from humans in being capable of exceptional feats of "super strength," both in the wild and in captive environments. A mix of anecdotal and more controlled studies provides some support for this view; however, a critical review of available data suggests that chimpanzee mass-specific muscular performance is a more modest 1.5 times greater than humans on average. Hypotheses for the muscular basis of this performance differential have included greater isometric force-generating capabilities, faster maximum shortening velocities, and/or a difference in myosin heavy chain (MHC) isoform content in chimpanzee relative to human skeletal muscle...
July 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28627668/potential-genetic-damage-to-nematode-offspring-following-exposure-to-triclosan-during-pregnancy
#5
Aixia Zhang, Xiaohong Gu, Xiuping Wang, Lei Wang, Lihua Zeng, Xuemei Fan, Chen Jiang, Ziyi Fu, Xianwei Cui, Chenbo Ji, Hongming Qu, Xirong Guo
Triclosan (TCS) is widely used as broad-spectrum antibacterial agent. However, it may threaten the health of human offspring if the mother is exposed to TCS during pregnancy. The present study aimed to identify potential mechanisms behind the toxic effect of TCS on the offspring of Caenorhabditis elegans (C. elegans), using this nematode as a suitable animal model. The results of the current study demonstrated that the locomotory behavior and reproductive capacity of C. elegans offspring was severely affected by prenatal exposure to different concentrations of TCS...
August 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28623958/knockdown-of-subunit-3-of-the-cop9-signalosome-inhibits-c2c12-myoblast-differentiation-via-nf-kappab-signaling-pathway
#6
Mariam A Ba, Jeffrey Surina, Cherie A Singer, Maria L Valencik
BACKGROUND: The COP9 signalosome (CSN) is a conserved protein complex composed of 8 subunits designated CSN1-CSN8. CSN3 represents the third subunit of the CSN and maintains the integrity of the complex. CSN3 binds to the striated muscle-specific β1D integrin tail, and its subcellular localization is altered in differentiated skeletal muscle cells. However, the role of CSN3 in skeletal muscle differentiation is unknown. The main goal of this study was to identify whether CSN3 participates in myoblast differentiation and the signalling mechanisms involved using C2C12 cells as a skeletal muscle cell model...
June 17, 2017: BMC Pharmacology & Toxicology
https://www.readbyqxmd.com/read/28622884/the-effect-of-caloric-restriction-on-the-forelimb-skeletal-muscle-fibers-of-the-hypertrophic-myostatin-null-mice
#7
Mohamed I Elashry, Antonios Matsakas, Sabine Wenisch, Stefan Arnhold, Ketan Patel
Skeletal muscle mass loss has a broad impact on body performance and physical activity. Muscle wasting occurs due to genetic mutation as in muscular dystrophy, age-related muscle loss (sarcopenia) as well as in chronic wasting disorders as in cancer cachexia. Food restriction reduces muscle mass underpinned by increased muscle protein break down. However the influence of dietary restriction on the morphometry and phenotype of forelimb muscles in a genetically modified myostatin null mice are not fully characterized...
June 13, 2017: Acta Histochemica
https://www.readbyqxmd.com/read/28620932/fiber-type-composition-of-the-palmaris-brevis-muscle-implications-for-palmar-function
#8
Colin W Moore, Tyler S Beveridge, Charles L Rice
The palmaris brevis (PB) is a small muscle of variant morphology located on the ulnar aspect of the palm, superficial to the hypothenar eminence. Functionally, the PB has been proposed to protect the neurovasculature of the ulnar canal from compressive forces during repetitive or intermittent trauma associated with grasping. Although PB function has been inferred from cadaveric observations, it is unknown whether it has the contractile capacity and fatigue-resistance necessary to withstand these functional demands...
June 16, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28594869/compound-heterozygous-mutations-in-glycyl-trna-synthetase-gars-cause-mitochondrial-respiratory-chain-dysfunction
#9
Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou
Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis of glycyl-tRNA, which is required to insert glycine into proteins within the cytosol and mitochondria. To date, eighteen mutations in GARS have been reported in patients with autosomal-dominant Charcot-Marie-Tooth disease type 2D (CMT2D; OMIM 601472), and/or distal spinal muscular atrophy type V (dSMA-V; OMIM 600794). In this study, we report a patient with clinical and biochemical features suggestive of a mitochondrial respiratory chain (MRC) disorder including mild left ventricular posterior wall hypertrophy, exercise intolerance, and lactic acidosis...
2017: PloS One
https://www.readbyqxmd.com/read/28590779/oculopharyngeal-muscular-dystrophy-and-inherited-retinal-dystrophy-in-bukhara-jews-due-to-linked-mutations-in-the-pabpn1-and-nrl-genes
#10
Itzhak Braverman, Sergiu C Blumen, Hadas Newman, Leah Rizel, Morad Khayat, Rana Hanna, Jean Lacau St Guily, Beatrice Tiosano, Tamar Ben-Yosef
AIM: We have previously described two unrelated Bukhara Jews (BJs) with a combination of oculopharyngeal muscular dystrophy (OPMD) and inherited retinal dystrophy (IRD), because of mutations in two linked genes: PABPN1 and NRL. Here we investigated the prevalence of the NRL mutation among BJs with OPMD. MATERIALS AND METHODS: PABPN1 and NRL mutation testing were performed by polymerase chain reaction amplification and direct sequencing on two cohorts of Bukhara Jewish patients: OPMD patients (with or without IRD) and IRD patients (without OPMD)...
July 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28547925/blockade-of-the-dissociation-of-nmmhc-iia-from-tnfr2-by-d39-a-saponin-from-liriope-muscari-suppresses-tissue-factor-expression-and-venous-thrombosis
#11
Ke-Feng Zhai, Jin-Rong Zheng, You-Mei Tang, Fang Li, Yan-Ni Lv, Yuan-Yuan Zhang, Zhen Gao, Jin Qi, Bo-Yang Yu, Jun-Ping Kou
BACKGROUND AND PURPOSE: Non-muscular myosin heavy chain IIA (NMMHC IIA) has been demonstrated to play a key role in tissue factor (TF) expression and venous thrombosis. However, whether natural products could inhibit thrombosis via NMMHC IIA remains unclear. In this study, we identified that a representative natural saponin D39 from Liriope muscari showed anti-thrombotic activity by targeting NMMHC IIA. EXPERIMENTAL APPROACH: TF expression and activity in endothelial cells were analysed in vitro by western blot and simplified chromogenic assays...
May 26, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28546288/dynamic-changes-in-the-skeletal-muscle-proteome-during-denervation-induced-atrophy
#12
Franziska Lang, Sriram Aravamudhan, Hendrik Nolte, Clara Tuerk, Soraya Hölper, Stefan Müller, Stefan Günther, Bert Blaauw, Thomas Braun, Marcus Krüger
Loss of neuronal stimulation enhances protein breakdown and reduces protein synthesis, causing rapid muscle mass loss. To elucidate the pathophysiological adaptations that occur in atrophying muscles, we used stable isotope labelling and mass spectrometry to accurately quantify protein expression changes during denervation-induced atrophy after sciatic nerve section in the mouse gastrocnemius muscle (GAST). Additionally, mice were fed a SILAC diet containing (13)C6 lysine for four, seven, or eleven days to calculate relative levels of protein synthesis in denervated and control muscles...
May 25, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28538101/chemical-end-group-modified-diblock-copolymers-elucidate-anchor-and-chain-mechanism-of-membrane-stabilization
#13
Evelyne M Houang, Karen J Haman, Mihee Kim, Wenjia Zhang, Dawn A Lowe, Yuk Y Sham, Timothy P Lodge, Benjamin J Hackel, Frank S Bates, Joseph M Metzger
Block copolymers can be synthesized in an array of architectures and compositions to yield diverse chemical properties. The triblock copolymer Poloxamer 188 (P188), the family archetype, consisting of a hydrophobic poly(propylene oxide) core flanked by hydrophilic poly(ethylene oxide) chains, can stabilize cellular membranes during stress. However, little is known regarding the molecular basis of membrane interaction by copolymers in living organisms. By leveraging diblock architectural design, discrete end-group chemistry modifications can be tested...
June 12, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28522731/effect-of-metformin-on-bioactive-lipid-metabolism-in-insulin-resistant-muscle
#14
Piotr Zabielski, Marta Chacinska, Karol Charkiewicz, Marcin Baranowski, Jan Gorski, Agnieszka U Blachnio-Zabielska
Intramuscular accumulation of bioactive lipids leads to insulin resistance and type 2 diabetes (T2D). There is lack of consensus concerning which of the lipid mediators has the greatest impact on muscle insulin action in vivo Our aim was to elucidate the effects of high-fat diet (HFD) and metformin (Met) on skeletal muscle bioactive lipid accumulation and insulin resistance (IR) in rats. We employed a [U-(13)C]palmitate isotope tracer and mass spectrometry to measure the content and fractional synthesis rate (FSR) of intramuscular long-chain acyl-CoA (LCACoA), diacylglycerols (DAG) and ceramide (Cer)...
June 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28502335/limb-girdle-muscular-dystrophy-2b-and-miyoshi-presentations-of-dysferlinopathy
#15
REVIEW
Nirupa J Patel, Kenneth W Van Dyke, Luis R Espinoza
We report the following 2 subtypes of progressive limb-girdle dystrophy type 2B: limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi. The first patient described had weakness in the anterior thigh muscles (LGMD2B) and the second patient had calf muscle weakness and atrophy (Miyoshi). Literature review was performed and LGMD2B was compared and distinguished from other myopathies of similar nature. Genetic testing with polymerase chain reaction analysis of the DYSF gene confirmed the diagnosis in both patients...
May 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28501558/effects-of-prolonged-exposure-to-co2-on-behaviour-hormone-secretion-and-respiratory-muscles-in-young-female-rats
#16
J M Martrette, C Egloff, C Clément, K Yasukawa, S N Thornton, M Trabalon
Atmospheric CO2 concentrations increased significantly over the last century and continuing increases are expected to have significant effects on current ecosystems. This study evaluated the behavioural and physiological (hormone status, muscle structure) effects of prolonged CO2 exposure in young female Wistar rats exposed at 700ppm of CO2 during 6h a day for 15days. Prolonged CO2 exposure, though not continuous, produced significant disturbances in behaviour with an increase in drinking, grooming and resting, and a reduction in rearing, jumping-play and locomotor activity...
May 10, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/28467313/igg-kappa-monoclonal-gammopathy-of-unknown-significance-with-al-amyloidosis-simulating-giant-cell-arteritis
#17
V M Pompilian, S Tanaseanu, Camelia Badea, Sabina Zurac, C Socoliuc, Sorina Badelita, Elena Botez, Mihaela Antohe
Monoclonal gammopathies complicated by AL amyloidosis can mimic giant cell arteritis (GCA).We hereby present the case of a 63 year old woman in whom symptoms consistent with GCA were the first manifestations of a monoclonal gammopathy of unknown significance (MGUS) associated with amyloidosis. A 63 year old woman was admitted for temporal headache, maseterine claudication, neck and shoulder stiffness. She was recently diagnosed with carpal tunnel syndrome. On physical examination she had prominent temporal arteries, macroglosia and orthostatic hypotension...
May 3, 2017: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
https://www.readbyqxmd.com/read/28448086/effects-of-running-wheel-activity-and-dietary-hmb-and-%C3%AE-alanine-co-supplementation-on-muscle-quality-in-aged-male-rats
#18
D W Russ, C Acksel, K W McCorkle, N K Edens, S M Garvey
OBJECTIVE: Loss of skeletal muscle function is linked to increased risk for loss of health and independence in older adults. Dietary interventions that can enhance aging muscle function, alone or in combination with exercise, may offer an effective way to reduce these risks. The goal of this study was to evaluate the muscular effects of beta-hydroxy-beta-methylbutyrate (HMB) and beta-alanine (β-Ala) co-supplementation in aged Sprague-Dawley rats with voluntary access to running wheels (RW)...
2017: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/28444133/increased-collagen-within-the-transverse-tubules-in-human-heart-failure
#19
David J Crossman, Xin Shen, Mia Jüllig, Michelle Munro, Yufeng Hou, Martin Middleditch, Darshan Shrestha, Amy Li, Sean Lal, Cristobal G Dos Remedios, David Baddeley, Peter N Ruygrok, Christian Soeller
Aims: In heart failure transverse-tubule (t-tubule) remodelling disrupts calcium release, and contraction. T-tubules in human failing hearts exhibit increased labelling by wheat germ agglutinin (WGA), a lectin that binds to the dystrophin-associated glycoprotein complex. We hypothesized changes in this complex may explain the increased WGA labelling and contribute to t-tubule remodelling in the failing human heart. In this study we sought to identify the molecules responsible for this increased WGA labelling...
April 20, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28441765/distinct-fiber-type-signature-in-mouse-muscles-expressing-a-mutant-lamin-a-responsible-for-congenital-muscular-dystrophy-in-a-patient
#20
Alice Barateau, Nathalie Vadrot, Onnik Agbulut, Patrick Vicart, Sabrina Batonnet-Pichon, Brigitte Buendia
Specific mutations in LMNA, which encodes nuclear intermediate filament proteins lamins A/C, affect skeletal muscle tissues. Early-onset LMNA myopathies reveal different alterations of muscle fibers, including fiber type disproportion or prominent dystrophic and/or inflammatory changes. Recently, we identified the p.R388P LMNA mutation as responsible for congenital muscular dystrophy (L-CMD) and lipodystrophy. Here, we asked whether viral-mediated expression of mutant lamin A in murine skeletal muscles would be a pertinent model to reveal specific muscle alterations...
April 24, 2017: Cells
keyword
keyword
44508
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"