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https://www.readbyqxmd.com/read/29336709/novel-mutation-of-the-dystrophin-gene-in-a-child-with-duchenne-muscular-dystrophy
#1
Jingjing Jiang, Tiejia Jiang, Jialu Xu, Jue Shen, Feng Gao
INTRODUCTION: Duchenne muscular dystrophy (DMD) is an X-linked autosomal recessive genetic disorder caused by mutations in DMD gene. Approximately 70% of the mutations are caused by deletions or duplications of DMD exons, while the remaining were minor mutations. CASE REPORT: We present a 5-year-old boy with typical clinical features of DMD. A novel mutation was identified as a c.9358_9359insA of DMD gene by next-generation sequencing. This mutation which was origined from mother, generated a frameshift mutation and resulted in abnormal synthesis of protein polypeptide chains...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29328987/total-mercury-content-in-commercial-swordfish-xiphias-gladius-from-different-fao-fishing-areas
#2
Mauro Esposito, Antonella De Roma, Raffaella La Nucara, Giuseppe Picazio, Pasquale Gallo
Mercury (Hg) is a global pollutant that affect human and ecosystem health. It is transferred through trophic level and bio magnification in the food chain. In this study, total Hg was measured in the muscular tissue of samples of swordfish (Xiphias gladius) from different FAO fishing areas and imported in Italy between 2014 and 2017. Total mercury concentrations of muscular tissues were determined using cold vapour atomic absorption spectrometry. In order to assess the health risk associated with human consumption of this fish, the Hg intake values were calculated and compared with those of provisional tolerable daily intake (PTDI) (0...
January 9, 2018: Chemosphere
https://www.readbyqxmd.com/read/29317079/biotensegrity-and-myofascial-chains-a-global-approach-to-an-integrated-kinetic-chain
#3
S L Dischiavi, A A Wright, E J Hegedus, C M Bleakley
Human movement is a complex orchestration of events involving many different body systems. Understanding how these systems interact during musculoskeletal movements can directly inform a variety of research fields including: injury etiology, injury prevention and therapeutic exercise prescription. Traditionally scientists have examined human movement through a reductionist lens whereby movements are broken down and observed in isolation. The process of reductionism fails to capture the interconnected complexities and the dynamic interactions found within complex systems such as human movement...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29306600/a-missense-mutation-in-dync1h1-gene-causing-spinal-muscular-atrophy-lower-extremity-dominant
#4
Joyutpal Das, James B Lilleker, Kavaldeep Jabbal, John Ealing
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder, which causes progressive muscle weakness and in severe cases respiratory failure and death. Although the majority of the SMA cases are autosomal recessive, there is an autosomal dominant variant of SMA that primarily affects the lower extremities, known as 'spinal muscular atrophy - lower extremity, dominant' (SMALED). Mutations in the Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) gene were the first to be associated with SMALED. Here we report a family with SMALED caused by a pathogenic heterozygous missense c...
December 14, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29303362/the-demands-of-amputee-soccer-impair-muscular-endurance-and-power-indices-but-not-match-physical-performance
#5
Mário A M Simim, Gustavo R da Mota, Moacir Marocolo, Bruno V C da Silva, Marco Túlio de Mello, Paul S Bradley
We investigated the match demands (distances covered and acute physiological responses) of amputee soccer and its impact on muscular endurance and power. Measures such as heart rate, blood lactate concentration, subjective rating of perceived exertion, and time-motion characteristics were recorded in 16 Brazilian amputee soccer players during matches. Before and after matches, players completed a battery of tests: push-ups, countermovement vertical jump performance, and medicine ball throwing. Small differences were found between the first and second half for the distance covered in total and across various speed categories...
January 5, 2018: Adapted Physical Activity Quarterly: APAQ
https://www.readbyqxmd.com/read/29288718/kr%C3%A3-ppel-like-factor-15-regulator-of-bcaa-metabolism-and-circadian-protein-rhythmicity
#6
REVIEW
Liyan Fan, Paishiun N Hsieh, David R Sweet, Mukesh K Jain
Regulation of nutrient intake, utilization, and storage exhibits a circadian rhythmicity that allows organisms to anticipate and adequately respond to changes in the environment across day/night cycles. The branched-chain amino acids (BCAAs) leucine, isoleucine, and valine are important modulators of metabolism and metabolic health - for example, their catabolism yields carbon substrates for gluconeogenesis during periods of fasting. Krüppel-like factor 15 (KLF15) has recently emerged as a critical transcriptional regulator of BCAA metabolism, and the absence of this transcription factor contributes to severe pathologies such as Duchenne muscular dystrophy and heart failure...
December 27, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29280463/cavernous-nerve-injury-by-radiation-therapy-may-potentiate-erectile-dysfunction-in-rats
#7
Javed Mahmood, Caroline Q Connors, Allen A Alexander, Radmila Pavlovic, Santanu Samanta, Sandrine Soman, Hotaka Matsui, Nikolai A Sopko, Trinity J Bivalacqua, Daniel Weinreich, Cheng-Ying Ho, John Eley, Amit Sawant, Isabel L Jackson, Zeljko Vujaskovic
PURPOSE/OBJECTIVES: Radiation-induced erectile-dysfunction (RiED) is one of the most common side effects of radiation therapy (RT) and significantly reduces the quality of life (QoL) of cancer patients. Approximately 50% of prostate cancer patients experience RiED within 3 to 5 years after completion of RT. A series of vascular, muscular, and neurogenic injuries after prostate RT lead to RiED; however, the precise role of RT-induced neurogenic injury in RiED has not been fully established...
November 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/29278724/perturbation-of-muscle-metabolism-in-patients-with-muscular-dystrophy-in-early-or-acute-phase-of-disease-in-vitro-high-resolution-nmr-spectroscopy-based-analysis
#8
Niraj Kumar Srivastava, Ramakant Yadav, Somnath Mukherjee, Neeraj Sinha
BACKGROUND: Muscular dystrophy is an inherited muscle disease, characterized by progressive muscle wasting and weakness of variable distribution and severity. METHODS: In vitro, high-resolution proton nuclear magnetic resonance (NMR) spectroscopy based analysis was performed on perchloric acid (PCA) extract of muscle specimens of patients suffering from various types of muscular dystrophies to identify alteration in hydrophilic low-molecular weight substances (aqueous metabolites) as compared to muscle of control subjects as well as in between the types of muscular dystrophy...
December 23, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29259896/involvement-of-rho-associated-coiled-coil-kinase-signaling-inhibition-in-tgf-%C3%AE-1-smad2-3-signal-transduction-in-vitro
#9
Zhao-Hui Feng, Xiao-Hui Zhang, Jia-Qi Zhao, Jun-Ze Ma
AIM: To research the effect of Y-27632, a selective Rho-associated coiled-coil kinase (ROCK) inhibitor, on TGF-β1/Smad2, 3 signal transduction in ocular Tenon's capsule fibroblasts (OTFs). METHODS: Primary ocular Tenon's capsule fibroblasts had been cultured in vitro. The effect of Y27632 on proliferation of OTF stimulated by lysophosphatidic acid (LPA) was evaluated by MTT colorimetric assay so as to sift out the proper concentrations range of Y-27632 for the next experiment...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/29258585/effects-of-endurance-training-on-skeletal-muscle-mitochondrial-function-in-huntington-disease-patients
#10
Sandro Manuel Mueller, Saskia Maria Gehrig, Jens A Petersen, Sebastian Frese, Violeta Mihaylova, Maria Ligon-Auer, Natalia Khmara, Jean-Marc Nuoffer, André Schaller, Carsten Lundby, Marco Toigo, Hans H Jung
BACKGROUND: Mitochondrial dysfunction may represent a pathogenic factor in Huntington disease (HD). Physical exercise leads to enhanced mitochondrial function in healthy participants. However, data on effects of physical exercise on HD skeletal muscle remains scarce. We aimed at investigating adaptations of the skeletal muscle mitochondria to endurance training in HD patients. METHODS: Thirteen HD patients and 11 healthy controls completed 26 weeks of endurance training...
December 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29246319/link-between-mhc-fiber-type-and-restoration-of-dystrophin-expression-and-key-components-of-the-dapc-by-tricyclo-dna-mediated-exon-skipping
#11
Saleh Omairi, Kwan-Leong Hau, Henry Collin-Hooper, Federica Montanaro, Aurelie Goyenvalle, Luis Garcia, Ketan Patel
Exon skipping mediated by tricyclo-DNA (tc-DNA) antisense oligonucleotides has been shown to induce significant levels of dystrophin restoration in mdx, a mouse model of Duchenne muscular dystrophy. This translates into significant improvement in key disease indicators in muscle, cardio-respiratory function, heart, and the CNS. Here we examine the relationship between muscle fiber type, based on myosin heavy chain (MHC) profile, and the ability of tc-DNA to restore not only dystrophin but also other members of the dystrophin-associated glycoprotein complex (DAPC)...
December 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/29244830/transcriptome-profiling-identifies-regulators-of-pathogenesis-in-collagen-vi-related-muscular-dystrophy
#12
Russell J Butterfield, Diane M Dunn, Ying Hu, Kory Johnson, Carsten G Bönnemann, Robert B Weiss
OBJECTIVES: The collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common congenital muscular dystrophies and are characterized by distal joint laxity and a combination of distal and proximal joint contractures. Inheritance can be dominant negative (DN) or recessive depending on the type and location of the mutation. DN mutations allow incorporation of abnormal chains into secreted tetramers and are the most commonly identified mutation type in COL6-RD...
2017: PloS One
https://www.readbyqxmd.com/read/29241046/increase-in-post-activation-potentiation-in-females-following-a-cycling-warmup
#13
Carey L Simpson, Marina M Flatman, Brian D H Kim, Nikita M Bouwmeester, Jennifer M Jakobi
Post activation potentiation (PAP) is a phenomenon in which muscular force is acutely enhanced as a result of prior contractile activity. The net augmentation is dependent upon the intensity of the preceding conditioning contraction influencing calcium release and phosphorylation of the regulatory myosin light chain. This phenomenon has been recorded after various types of conditioning contractions, however the interaction of a warmup on PAP remains uncertain and whether this differs between males and females requires consideration...
December 11, 2017: Human Movement Science
https://www.readbyqxmd.com/read/29226520/a-novel-homozygous-slc25a1-mutation-with-impaired-mitochondrial-complex-v-possible-phenotypic-expansion
#14
Idan Cohen, Orna Staretz-Chacham, Ohad Wormser, Yonatan Perez, Ann Saada, Rotem Kadir, Ohad S Birk
SLC25A1 mutations are associated with combined D,L-2-hydroxyglutaric aciduria (DL- 2HGA; OMIM #615182), characterized by muscular hypotonia, severe neurodevelopmental dysfunction and intractable seizures. SLC25A1 encodes the mitochondrial citrate carrier (CIC), which mediates efflux of the mitochondrial tricarboxylic acid (TCA) cycle intermediates citrate and isocitrate in exchange for cytosolic malate. Only a single family with an SLC25A1 mutation has been described in which mitochondrial respiratory chain dysfunction was documented, specifically in complex IV...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29205214/biomechanics-of-the-shoulder-girdle-a-case-study-on-the-effects-of-union-rugby-tackles
#15
Luís Faria, Bárbara Campos, Renato Natal Jorge
PURPOSE: The shoulder girdle is a complex system, comprised by a kinematic chain and stabilizers. Due to the delicate equilibrium and synchronism between mobility and stability, high external loads may compromise its physiology, increasing the risk of injuries. Thus, this study intends to fully characterize the effects of a rugby tackle on the shoulder's anatomy and physiology. METHODS: For the experimental procedures, a matrix of pressure sensors was used, based on the Teckscan® pressure in-soles, force plates, an isokinetic dynamometer and sEMG (surface electromyography)...
2017: Acta of Bioengineering and Biomechanics
https://www.readbyqxmd.com/read/29184760/rhabdomyolysis-with-different-etiologies-in-childhood
#16
Demet Alaygut, Meral Torun Bayram, Belde Kasap, Alper Soylu, Mehmet Türkmen, Salih Kavukcu
AIM: To investigate different etiologies and management of the rhabdomyolysis in children. METHODS: Eight pediatric rhabdomyolysis cases who applied to the Dokuz Eylul University Faculty of Medicine Department of Pediatric Nephrology with different etiologies between January 2004 and January 2012 were evaluated in terms of age, gender, admission symptoms, physical examination findings, factors provoking rhabdomyolysis, number of rhabdomyolysis attacks, laboratory results, family history and the final diagnosis received after the treatment...
November 8, 2017: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/29177651/measurement-of-chaperone-mediated-effects-on-polyglutamine-protein-aggregation-by-the-filter-trap-assay
#17
Maria A W H van Waarde-Verhagen, Harm H Kampinga
The formation of aggregates by polyglutamine-containing (polyQ) proteins in neurons is a key to the pathogenesis of several progressive neurodegenerative diseases such as Huntington's disease (HD) spinocerebellar ataxias (SCAs), and spinal and bulbar muscular atrophy (SBMA). In order to study whether the members of the heat shock protein (HSP) families, by virtue of their molecular chaperone activity, can inhibit the formation of polyQ aggregates, we developed a cell culture model expressing the GFP tagged fragment of exon1 of the huntingtin gene with an expanded polyQ chain and tetracycline inducible chaperones...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29170849/myh7-mutation-associated-with-two-phenotypes-of-myopathy
#18
Nan Li, Zhe Zhao, Hongrui Shen, Qi Bing, Xuan Guo, Jing Hu
The mutations of MYH7 (slow skeletal/β-cardiac myosin heavy chain) are commonly found in familial hypertrophic/dilated cardiomyopathy, and also can cause Laing early-onset distal myopathy (LDM), myosin storage myopathy (MSM), and congenital myopathy with fiber-type disproportion (CFTD). Here we report two cases whose diagnosis was hereditary myopathy according to clinical feature and muscle pathology analysis. High-throughput genomic sequencing (next generation sequencing) was performed to validate the diagnosis...
November 24, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29099150/expanded-carrier-screening-in-gamete-donors-of-venezuela
#19
Maria Teresa Urbina, Isaac Benjamin, Randolfo Medina, José Jiménez, Laura Trías, Jorge Lerner
OBJECTIVE: To discuss the implications of expanded genetic carrier screening for preconception purposes based on our practice. METHODS: One hundred and forty-three potential gamete donors aged 20-32 years old (µ=24, 127 females and 16 males), signed informed consent forms and were selected according to the REDLARA guidelines. Blood or saliva samples were examined by one of these genetic carrier screening methods: Genzyme screening for Cystic Fibrosis (CF), Fragile X and Spinal Muscular Atrophy (SMA); Counsyl Universal panel or Recombine Carrier Map...
November 3, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29093808/sanger-sequencing-as-a-first-line-approach-for-molecular-diagnosis-of-andersen-tawil-syndrome
#20
Armando Totomoch-Serra, Manlio F Marquez, David E Cervantes-Barragán
In 1977, Frederick Sanger developed a new method for DNA sequencing based on the chain termination method, now known as the Sanger sequencing method (SSM).  Recently, massive parallel sequencing, better known as next-generation sequencing (NGS),  is replacing the SSM for detecting mutations in cardiovascular diseases with a genetic background. The present opinion article wants to remark that "targeted" SSM is still effective as a first-line approach for the molecular diagnosis of some specific conditions, as is the case for Andersen-Tawil syndrome (ATS)...
2017: F1000Research
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