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https://www.readbyqxmd.com/read/29758563/pilot-study-of-population-based-newborn-screening-for-spinal-muscular-atrophy-in-new-york-state
#1
Jennifer N Kraszewski, Denise M Kay, Colleen F Stevens, Carrie Koval, Bianca Haser, Veronica Ortiz, Anthony Albertorio, Lilian L Cohen, Ritu Jain, Sarah P Andrew, Sally Dunaway Young, Nicole M LaMarca, Darryl C De Vivo, Michele Caggana, Wendy K Chung
PurposeTo determine feasibility and utility of newborn screening for spinal muscular atrophy (SMA) in New York State.MethodsWe validated a multiplex TaqMan real-time quantitative polymerase chain reaction assay using dried blood spots for SMA. From January 2016 to January 2017, we offered, consented, and screened 3,826 newborns at three hospitals in New York City and tested newborns for the deletion in exon 7 of SMN1.ResultsNinety-three percent of parents opted in for SMA screening. Overall the SMA carrier frequency was 1...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29755918/coq10-a-super-vitamin-review-on-application-and-biosynthesis
#2
REVIEW
Shraddha Shukla, Kashyap Kumar Dubey
Coenzyme Q10 (CoQ) or ubiquinone is found in the biological system which is synthesized by the conjugation of benzoquinone ring with isoprenoid chain of variable length. Coenzyme Q10 supplementation energizes the body and increases body energy production in the form of ATP and helps to treat various human diseases such as cardiomyopathy, muscular dystrophy, periodontal disease, etc. Reports of these potential therapeutic advantages of CoQ10 have resulted in its high market demand, which focus the researchers to work on this molecule and develop better bioprocess methods for commercial level production...
May 2018: 3 Biotech
https://www.readbyqxmd.com/read/29754437/reduced-fiber-size-capillary-supply-and-mitochondrial-activity-in-constitutional-thinness-skeletal-muscle
#3
Bogdan Galusca, Julien Verney, Emmanuelle Meugnier, Yiin Ling, Pascal Edouard, Leonard Feasson, Marion Ravelojaona, Hubert Vidal, Bruno Estour, Natacha Germain
AIM: Constitutional thinness (CT) is a rare condition of natural low bodyweight, with no psychological issues, no marker of undernutrition and a resistance to weight gain. This study evaluated the skeletal muscle phenotype of CT women by comparison to a normal BMI control group. METHODS: 10 CT women (BMI< 17.5 kg/m2) and 10 female controls (BMI: 18.5-25 kg/m2) underwent metabolic and hormonal assessment along with muscle biopsies to analyse the skeletal muscular fibers pattern, capillarity, enzymes activities and transcriptomics...
May 13, 2018: Acta Physiologica
https://www.readbyqxmd.com/read/29751400/2-3-7-8-tetrachlorodibenzo-p-dioxin-induces-alterations-in-myogenic-differentiation-of-c2c12-cells
#4
Heidi Q Xie, Yingjie Xia, Tuan Xu, Yangsheng Chen, Hualing Fu, Yunping Li, Yali Luo, Li Xu, Karl W K Tsim, Bin Zhao
Dioxin-induced toxicities that affect the development of the motor system have been proposed since many years. However, cellular evidence and the molecular basis for the effects are limited. In this study, a cultured mouse myoblast cell line, C2C12, was utilized to examine the effects of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) on myogenic differentiation and expression of acetylcholinesterase (AChE), a neuromuscular transmission-related gene. The results showed that TCDD exposure at 10-10  M repressed the myotube formation of C2C12 cells by disturbing the fusion process and suppressing the expression of myosin heavy chain, a myobute structural protein, and not by induction of cytotoxicity...
April 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29743983/chemotherapeutic-drugs-and-mitochondrial-dysfunction-focus-on-doxorubicin-trastuzumab-and-sunitinib
#5
REVIEW
Stefania Gorini, Antonella De Angelis, Liberato Berrino, Natalia Malara, Giuseppe Rosano, Elisabetta Ferraro
Many cancer therapies produce toxic side effects whose molecular mechanisms await full elucidation. The most feared and studied side effect of chemotherapeutic drugs is cardiotoxicity. Also, skeletal muscle physiology impairment has been recorded after many chemotherapeutical treatments. However, only doxorubicin has been extensively studied for its side effects on skeletal muscle. Chemotherapeutic-induced adverse side effects are, in many cases, mediated by mitochondrial damage. In particular, trastuzumab and sunitinib toxicity is mainly associated with mitochondria impairment and is mostly reversible...
2018: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29735415/interventions-targeting-glucocorticoid-kr%C3%A3-ppel-like-factor-15-branched-chain-amino-acid-signaling-improve-disease-phenotypes-in-spinal-muscular-atrophy-mice
#6
Lisa M Walter, Marc-Olivier Deguise, Katharina E Meijboom, Corinne A Betts, Nina Ahlskog, Tirsa L E van Westering, Gareth Hazell, Emily McFall, Anna Kordala, Suzan M Hammond, Frank Abendroth, Lyndsay M Murray, Hannah K Shorrock, Domenick A Prosdocimo, Saptarsi M Haldar, Mukesh K Jain, Thomas H Gillingwater, Peter Claus, Rashmi Kothary, Matthew J A Wood, Melissa Bowerman
The circadian glucocorticoid-Krüppel-like factor 15-branched-chain amino acid (GC-KLF15-BCAA) signaling pathway is a key regulatory axis in muscle, whose imbalance has wide-reaching effects on metabolic homeostasis. Spinal muscular atrophy (SMA) is a neuromuscular disorder also characterized by intrinsic muscle pathologies, metabolic abnormalities and disrupted sleep patterns, which can influence or be influenced by circadian regulatory networks that control behavioral and metabolic rhythms. We therefore set out to investigate the contribution of the GC-KLF15-BCAA pathway in SMA pathophysiology of Taiwanese Smn-/- ;SMN2 and Smn2B/- mouse models...
May 4, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29734881/effect-of-ubiquinol-supplementation-on-biochemical-and-oxidative-stress-indexes-after-intense-exercise-in-young-athletes
#7
Patrick Orlando, Sonia Silvestri, Roberta Galeazzi, Roberto Antonicelli, Fabio Marcheggiani, Ilenia Cirilli, Tiziana Bacchetti, Luca Tiano
OBJECTIVES: Physical exercise significantly impacts the biochemistry of the organism. Ubiquinone is a key component of the mitochondrial respiratory chain and ubiquinol, its reduced and active form, is an emerging molecule in sport nutrition. The aim of this study was to evaluate the effect of ubiquinol supplementation on biochemical and oxidative stress indexes after an intense bout of exercise. METHODS: 21 male young athletes (26 + 5 years of age) were randomized in two groups according to a double blind cross-over study, either supplemented with ubiquinol (200 mg/day) or placebo for 1 month...
December 2018: Redox Report: Communications in Free Radical Research
https://www.readbyqxmd.com/read/29734515/decreased-placental-and-muscular-expression-of-the-fibroblast-growth-factor-19-in-gestational-diabetes-mellitus
#8
Dongyu Wang, Shuqia Xu, Wenjing Ding, Caixia Zhu, Songqing Deng, Xiwen Qiu, Zilian Wang
AIMS: Fibroblast growth factor (FGF) 19 has been shown to improve glycaemic homeostasis and lipid metabolism in animal models. In humans, decreased FGF19 level has been described in diabetes. This study aimed to investigate the expression of FGF19 in gestational diabetes mellitus (GDM). MATERIALS AND METHODS: Samples for measurement were obtained from 20 GDM women and 25 healthy controls. The mRNA and protein expression levels of FGF19, FGF21 and co-receptor β-klotho (KLB) in placenta, rectus muscle and subcutaneous fat tissues were quantified by real-time quantitative polymerase chain reaction, western-blot and immunohistochemistry, respectively...
May 7, 2018: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/29722617/cheap-labor-myosin-fiber-type-expression-and-enzyme-activity-in-the-forelimb-musculature-of-sloths-pilosa-xenarthra
#9
Kyle B Spainhower, Rebecca N Cliffe, Allan K Metz, Ernest M Barkett, Paije M Kiraly, Dylan R Thomas, Sarah J Kennedy, Judy Avey-Arroyo, Michael T Butcher
Sloths are canopy-dwelling inhabitants of American neotropical rainforests that exhibit suspensory behaviors. These abilities require both strength and muscular endurance to hang for extended periods of time; however, the skeletal muscle mass of sloths is reduced, thus requiring modifications to muscle architecture and leverage for large joint torque. We hypothesize that intrinsic muscle properties also are modified for fatigue resistance and predict a heterogeneous expression of slow/fast myosin heavy chain (MHC) fibers that utilize oxidative metabolic pathways for economic force production...
May 3, 2018: Journal of Applied Physiology
https://www.readbyqxmd.com/read/29684379/effect-of-a-long-term-treatment-with-metformin-in-dystrophic-mdx-mice-a-reconsideration-of-its-potential-clinical-interest-in-duchenne-muscular-dystrophy
#10
Paola Mantuano, Francesca Sanarica, Elena Conte, Maria Grazia Morgese, Roberta Francesca Capogrosso, Anna Cozzoli, Adriano Fonzino, Angelo Quaranta, Jean-Francois Rolland, Michela De Bellis, Giulia Maria Camerino, Luigia Trabace, Annamaria De Luca
The pharmacological stimulation of AMP-activated protein kinase (AMPK) via metabolic enhancers has been proposed as potential therapeutic strategy for Duchenne muscular dystrophy (DMD). Metformin, a widely-prescribed anti-hyperglycemic drug which activates AMPK via mitochondrial respiratory chain, has been recently tested in DMD patients in synergy with nitric oxide (NO)-precursors, with encouraging results. However, preclinical data supporting the use of metformin in DMD are still poor, and its actions on skeletal muscle appear controversial...
April 20, 2018: Biochemical Pharmacology
https://www.readbyqxmd.com/read/29669851/systemic-administration-of-the-antisense-oligonucleotide-ns-065-ncnp-01-for-skipping-of-exon-53-in-patients-with-duchenne-muscular-dystrophy
#11
Hirofumi Komaki, Tetsuya Nagata, Takashi Saito, Satoru Masuda, Eri Takeshita, Masayuki Sasaki, Hisateru Tachimori, Harumasa Nakamura, Yoshitsugu Aoki, Shin'ichi Takeda
Duchenne muscular dystrophy (DMD) is a lethal hereditary muscle disease caused by mutations in the gene encoding the muscle protein dystrophin. These mutations result in a shift in the open reading frame leading to loss of the dystrophin protein. Antisense oligonucleotides (ASOs) that induce exon skipping correct this frame shift during pre-mRNA splicing and partially restore dystrophin expression in mouse and dog models. We conducted a phase 1, open-label, dose-escalation clinical trial to determine the safety, pharmacokinetics, and activity of NS-065/NCNP-01, a morpholino ASO that enables skipping of exon 53...
April 18, 2018: Science Translational Medicine
https://www.readbyqxmd.com/read/29626299/short-chain-consensus-alpha-neurotoxin-a-synthetic-60-mer-peptide-with-generic-traits-and-enhanced-immunogenic-properties
#12
Guillermo de la Rosa, Ligia L Corrales-García, Ximena Rodriguez-Ruiz, Estuardo López-Vera, Gerardo Corzo
The three-fingered toxin family and more precisely short-chain α-neurotoxins (also known as Type I α-neurotoxins) are crucial in defining the elapid envenomation process, but paradoxically, they are barely neutralized by current elapid snake antivenoms. This work has been focused on the primary structural identity among Type I neurotoxins in order to create a consensus short-chain α-neurotoxin with conserved characteristics. A multiple sequence alignment considering the twelve most toxic short-chain α-neurotoxins reported from the venoms of the elapid genera Acanthophis, Oxyuranus, Walterinnesia, Naja, Dendroaspis and Micrurus led us to propose a short-chain consensus α-neurotoxin, here named ScNtx...
April 6, 2018: Amino Acids
https://www.readbyqxmd.com/read/29578119/molecular-analysis-based-genetic-characterization-of-a-cohort-of-patients-with-duchenne-and-becker-muscular-dystrophy-in-eastern-china
#13
Hui-Hui Zhao, Xue-Ping Sun, Ming-Chao Shi, Yong-Xiang Yi, Hong Cheng, Xing-Xia Wang, Qing-Cheng Xu, Hong-Ming Ma, Hao-Quan Wu, Qing-Wen Jin, Qi Niu
Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-linked recessive neuromuscular disorders caused by mutations in dystrophin gene. Multiplex polymerase chain reaction (multiplex PCR) and multiplex ligation-dependent probe amplification (MLPA) are the most common methods for detecting dystrophin gene mutations. This study aimed to contrast the two methods and discern the genetic characterization of patients with DMD/BMD in Eastern China. Methods: We collected 121 probands, 64 mothers of probands, and 15 fetuses in our study...
April 5, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29544677/laminin-%C3%AE-1-reduces-muscular-dystrophy-in-dy-2j-mice
#14
Kinga I Gawlik, Vahid M Harandi, Rachel Y Cheong, Åsa Petersén, Madeleine Durbeej
Muscular dystrophies, including laminin α2 chain-deficient muscular dystrophy (LAMA2-CMD), are associated with immense personal, social and economic burdens. Thus, effective treatments are urgently needed. LAMA2-CMD is either a severe, early-onset condition with complete laminin α2 chain-deficiency or a milder, late-onset form with partial laminin α2 chain-deficiency. Mouse models dy3K /dy3K and dy2J /dy2J , respectively, recapitulate these two forms of LAMA2-CMD very well. We have previously demonstrated that laminin α1 chain significantly reduces muscular dystrophy in laminin α2 chain-deficient dy3K /dy3K mice...
March 12, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29534725/elevated-whole-muscle-phosphatidylcholine-phosphatidylethanolamine-ratio-coincides-with-reduced-serca-activity-in-murine-overloaded-plantaris-muscles
#15
Val A Fajardo, John S Mikhaeil, Cameron F Leveille, A Russell Tupling, Paul J LeBlanc
BACKGROUND: An increase in phosphatidylcholine:phosphatidylethanolamine (PC:PE) and a decrease in fatty acyl chain length, monounsaturated:polyunsaturated (MUFA:PUFA) fatty acyl ratio reduces SERCA activity in liposomes and in mouse models of obesity and muscular dystrophy. We have previously shown that maximal SERCA activity is significantly reduced in mechanically overloaded (OVL) plantaris, however, whether changes in PC:PE ratio or fatty acyl composition may contribute to the alterations in maximal SERCA activity remain unknown...
March 13, 2018: Lipids in Health and Disease
https://www.readbyqxmd.com/read/29529586/cost-effectiveness-analysis-of-diagnosis-of-duchenne-becker-muscular-dystrophy-in-colombia
#16
Sara C Atehortúa, Luz H Lugo, Mateo Ceballos, Esteban Orozco, Paula A Castro, Juan C Arango, Heidi E Mateus
OBJECTIVES: To determine the cost-effectiveness ratio of different courses of action for the diagnosis of Duchenne or Becker muscular dystrophy in Colombia. METHODS: The cost-effectiveness analysis was performed from the Colombian health system perspective. Decision trees were constructed, and different courses of action were compared considering the following tests: immunohistochemistry (IHC), Western blot (WB), multiplex polymerase chain reaction, multiplex ligation-dependent probe amplification (MLPA), and the complete sequencing of the dystrophin gene...
March 9, 2018: Value in Health Regional Issues
https://www.readbyqxmd.com/read/29527161/learning-by-demonstration-for-motion-planning-of-upper-limb-exoskeletons
#17
Clemente Lauretti, Francesca Cordella, Anna Lisa Ciancio, Emilio Trigili, Jose Maria Catalan, Francisco Javier Badesa, Simona Crea, Silvio Marcello Pagliara, Silvia Sterzi, Nicola Vitiello, Nicolas Garcia Aracil, Loredana Zollo
The reference joint position of upper-limb exoskeletons is typically obtained by means of Cartesian motion planners and inverse kinematics algorithms with the inverse Jacobian; this approach allows exploiting the available Degrees of Freedom (i.e. DoFs) of the robot kinematic chain to achieve the desired end-effector pose; however, if used to operate non-redundant exoskeletons, it does not ensure that anthropomorphic criteria are satisfied in the whole human-robot workspace. This paper proposes a motion planning system, based on Learning by Demonstration, for upper-limb exoskeletons that allow successfully assisting patients during Activities of Daily Living (ADLs) in unstructured environment, while ensuring that anthropomorphic criteria are satisfied in the whole human-robot workspace...
2018: Frontiers in Neurorobotics
https://www.readbyqxmd.com/read/29516039/non-structural-misalignments-of-body-posture-in-the-sagittal-plane
#18
REVIEW
Dariusz Czaprowski, Łukasz Stoliński, Marcin Tyrakowski, Mateusz Kozinoga, Tomasz Kotwicki
Background: The physiological sagittal spinal curvature represents a typical feature of good body posture in the sagittal plane. The cervical and the lumbar spine are curved anteriorly (lordosis), while the thoracic segment is curved posteriorly (kyphosis). The pelvis is inclined anteriorly, and the lower limbs' joints remain in a neutral position. However, there are many deviations from the optimal body alignment.The aim of this paper is to present the most common types of non-structural misalignments of the body posture in the sagittal plane...
2018: Scoliosis and Spinal Disorders
https://www.readbyqxmd.com/read/29512743/leigh-syndrome-t8993c-mitochondrial-dna-mutation-heteroplasmy-and-the-first-clinical-presentation-in-a-vietnamese-family
#19
Chamara Arachchighe Lahiru Weerasinghe, Bich-Hong Thi Bui, Thu Thi Vu, Hong-Loan Thi Nguyen, Bao-Khanh Phung, Van-Minh Nguyen, Van-Anh Pham, Vu-Hung Cao, Tuan-Nghia Phan
Leigh syndrome is a rare inherited, heterogeneous and progressive neurometabolic disorder that is mainly caused by specific mutations in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). The present study reported a case of childhood Leigh syndrome with a point mutation at bp 8,993 in the mitochondrial ATPase6 gene. A 21‑month‑old male child had developed epilepsy, muscular weakness and vomiting, which was accompanied by high fever. Magnetic resonance imaging indicated typical characteristics of Leigh syndrome, including a symmetric abnormal signal in the dorsal medulla oblongata and Sylvian fissure enlargement in association with an abnormal signal in the periventricular white matter and in the putamina and caudate heads...
May 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29484433/the-polyaromatic-hydrocarbon-%C3%AE-naphthoflavone-alters-binding-of-yy1-sp1-and-sp3-transcription-factors-to-the-dp71-promoter-in-hepatic-cells
#20
Carolina Becerril-Esquivel, Katia Peñuelas-Urquides, Erik Blancas-Sánchez, Pablo Zapata-Benavides, Beatriz Silva-Ramírez, Arturo Chávez-Reyes, Fabiola Castorena-Torres, Bulmaro Cisneros, Mario Bermúdez de León
The smallest product of the Duchenne muscular dystrophy gene, dystrophin (Dp)71, is ubiquitously expressed in nonmuscle tissues. We previously showed that Dp71 expression in hepatic cells is modulated in part by stimulating factor 1 (Sp1), stimulating protein 3 (Sp3), and yin yang 1 (YY1) transcription factors, and that the polyaromatic hydrocarbon, β-naphthoflavone (β‑NF), downregulates Dp71 expression. The aim of the present study was to determine whether β‑NF represses Dp71 expression by altering mRNA stability or its promoter activity...
April 2018: Molecular Medicine Reports
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