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https://www.readbyqxmd.com/read/28214532/smn1-functions-as-a-novel-inhibitor-for-traf6-mediated-nf-%C3%AE%C2%BAb-signaling
#1
Eun Kyung Kim, Eui-Ju Choi
Survival motor neuron (SMN) is a 38-kDa protein, whose deficiency in humans develops spinal muscular atrophy (SMA), an autosomal recessive neurodegenerative disease with muscular atrophy due to motor neuron death in the spinal cord. We now report that SMN prevents the activation of TRAF6 and IκB kinase (IKK) and thereby negatively regulates the NF-κB signaling processes. SMN physically interacted with TRAF6 and with each component of the IKK complex, IKK-α, IKK-β, and IKK-γ in BV2 microglia cells. Moreover, SMN1 inhibited the E3 ubiquitin ligase activity of TRAF6 as well as the kinase activity of IKK...
February 15, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28214339/turner-syndrome-and-duchenne-muscular-dystrophy
#2
Sumit Verma, Parul Goyal, Charlotte Beam, Durga Shah
No abstract text is available yet for this article.
February 18, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28214289/bone-health-in-facioscapulohumeral-muscular-dystrophy-a-cross-sectional-study
#3
Hema Chagarlamudi, Alastair Corbett, Marion Stoll, Genila Bibat, Carla Grosmann, Carly Matichak Stock, Nikia Stinson, Jay Shapiro, Kathryn Wagner
INTRODUCTION: We provide a comprehensive overview of bone health in facioscapulohumeral muscular dystrophy (FSHD). METHODS: Ninety-four adult individuals with FSHD1 from two sites were included in this cross-sectional study. Clinical characteristics and determinants of bone health were examined. Relationships between bone mineral density (BMD), strength and function were explored. RESULTS: Nearly a third of subjects were deficient in vitamin D3...
February 18, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28214269/immunohistochemistry-on-a-panel-of-emery-dreifuss-muscular-dystrophy-samples-reveals-nuclear-envelope-proteins-as-inconsistent-markers-for-pathology
#4
Phu Le Thanh, Peter Meinke, Nadia Korfali, Vlastimil Srsen, Michael I Robson, Manfred Wehnert, Benedikt Schoser, Caroline A Sewry, Eric C Schirmer
Reports of aberrant distribution for some nuclear envelope proteins in cells expressing a few Emery-Dreifuss muscular dystrophy mutations raised the possibility that such protein redistribution could underlie pathology and/or be diagnostic. However, this disorder is linked to 8 different genes encoding nuclear envelope proteins, raising the question of whether a particular protein is most relevant. Therefore, myoblast/fibroblast cultures from biopsy and tissue sections from a panel of nine Emery-Dreifuss muscular dystrophy patients (4 male, 5 female) including those carrying emerin and FHL1 (X-linked) and several lamin A (autosomal dominant) mutations were stained for the proteins linked to the disorder...
December 21, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28214267/a-japanese-male-with-a-novel-ano5-mutation-with-minimal-muscle-weakness-and-muscle-pain-till-his-late-fifties
#5
Masato Kadoya, Katsuhisa Ogata, Mikiya Suzuki, Yutaka Honma, Kazunari Momma, Kana Yatabe, Takuhisa Tamura, Kenichi Kaida, Naomasa Miyata, Ichizo Nishino, Ikuya Nonaka, Mitsuru Kawai
Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with anoctamin 5 (ANO5) gene mutation, mainly reported from Northern and Central Europe. We report the case of a Japanese male patient with a novel homozygous mutation of c.2394dup, p.Arg799Thrfs in ANO5 gene, the second patient in the Asian population. He had had marked elevation of creatine kinase (CK) level for more than 10 years with minimal muscular symptoms consisting of muscle stiffness and occasional cramps, preceding the onset of proximal limb weakness...
January 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28213867/re-establishment-of-rigor-mortis-evidence-for-a-considerably-longer-post-mortem-time-span
#6
Chiara Crostack, Susanne Sehner, Tobias Raupach, Sven Anders
Re-establishment of rigor mortis following mechanical loosening is used as part of the complex method for the forensic estimation of the time since death in human bodies and has formerly been reported to occur up to 8-12 h post-mortem (hpm). We recently described our observation of the phenomenon in up to 19 hpm in cases with in-hospital death. Due to the case selection (preceding illness, immobilisation), transfer of these results to forensic cases might be limited. We therefore examined 67 out-of-hospital cases of sudden death with known time points of death...
February 17, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28213823/long-term-resistance-exercise-induced-muscular-hypertrophy-is-associated-with-autophagy-modulation-in-rats
#7
Insu Kwon, Yongchul Jang, Joon-Yong Cho, Young C Jang, Youngil Lee
Elevation of anabolism and concurrent suppression of catabolism are critical metabolic adaptations for muscular hypertrophy in response to resistance exercise (RE). Here, we investigated if RE-induced muscular hypertrophy is acquired by modulating a critical catabolic process autophagy. Male Wistar Hannover rats (14 weeks old) were randomly assigned to either sedentary control (SC, n = 10) or resistance exercise (RE, n = 10). RE elicited significant hypertrophy of flexor digitorum profundus (FDP) muscles in parallel with enhancement in anabolic signaling pathways (phosphorylation of AKT, mTOR, and p70S6K)...
February 17, 2017: Journal of Physiological Sciences: JPS
https://www.readbyqxmd.com/read/28213670/emerging-genotype-phenotype-relationships-in-patients-with-large-nf1-deletions
#8
REVIEW
Hildegard Kehrer-Sawatzki, Victor-Felix Mautner, David N Cooper
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germline type-1 NF1 microdeletions frequently exhibit dysmorphic facial features, overgrowth/tall-for-age stature, significant delay in cognitive development, large hands and feet, hyperflexibility of joints and muscular hypotonia...
February 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28212266/individual-patterns-in-blood-borne-indicators-of-fatigue-trait-or-chance
#9
Ross Julian, Tim Meyer, Hugh H K Fullagar, Sabrina Skorski, Mark Pfeiffer, Michael Kellmann, Alexander Ferrauti, Anne Hecksteden
Julian, R, Meyer, T, Fullagar, HHK, Skorski, S, Pfeiffer, M, Kellmann, M, Ferrauti, A, and Hecksteden, A. Individual patterns in blood-borne indicators of fatigue-trait or chance. J Strength Cond Res 31(3): 608-619, 2017-Blood-borne markers of fatigue such as creatine kinase (CK) and urea (U) are widely used to fine-tune training recommendations. However, predictive accuracy is low. A possible explanation for this dissatisfactory characteristic is the propensity of athletes to react to different patterns of fatigue indicators (e...
March 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28211362/marrow-isolated-adult-multilineage-inducible-cells-embedded-within-a-biologically-inspired-construct-promote-recovery-in-a-mouse-model-of-peripheral-vascular-disease
#10
Cristina Grau-Monge, Gaëtan J-R Delcroix, Andrea Bonnin-Marquez, Mike Valdes, Ead Lewis Mazen Awadallah, Daniel F Quevedo, Maxime R Armour, Ramon B Montero, Paul C Schiller, Fotios M Andreopoulos, Gianluca D'Ippolito
Peripheral vascular disease is one of the major vascular complications in individuals suffering from diabetes and in the elderly that is associated with significant burden in terms of morbidity and mortality. Stem cell therapy is being tested as an attractive alternative to traditional surgery to prevent and treat this disorder. The goal of this study was to enhance the protective and reparative potential of marrow-isolated adult multilineage inducible (MIAMI) cells by incorporating them within a bio-inspired construct (BIC) made of two layers of gelatin B electrospun nanofibers...
February 17, 2017: Biomedical Materials
https://www.readbyqxmd.com/read/28210319/physiology-of-respiratory-disturbances-in-muscular-dystrophies
#11
Antonella Lo Mauro, Andrea Aliverti
: Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e. when the respiratory system fails in its gas exchange functions, is a common feature in muscular dystrophy, being the main cause of death, and it is a consequence of lung failure, pump failure or a combination of the two. The former is due to recurrent aspiration, the latter to progressive weakness of respiratory muscles and an increase in the load against which they must contract...
December 2016: Breathe
https://www.readbyqxmd.com/read/28210040/does-grip-strength-on-the-unaffected-side-of-patients-with-hemiparetic-stroke-reflect-the-strength-of-other-ipsilateral-muscles
#12
Jumpei Takahashi, Toru Nishiyama, Yoshimasa Matsushima
[Purpose] Grip strength is used as an indicator of overall body muscular strength. However, most studies on grip strength have been performed in healthy people, and no study has evaluated it in the unaffected side of patients with hemiparetic stroke. The purpose of this study was to determine if grip strength on the unaffected side of patients with hemiparetic stroke correlates with the strength of other ipsilateral musculature. [Subjects and Methods] The maximal strengths of the muscles on the unaffected side of 31 patients with hemiparetic stroke were measured, and correlation coefficients were calculated...
January 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28210037/a-study-on-asymmetry-in-infants-with-congenital-muscular-torticollis-according-to-head-rotation
#13
KyeongSoo Lee, EunJung Chung, Byoung-Hee Lee
[Purpose] The purpose of this study was to research asymmetry in infants with congenital muscular torticollis (CMT) according to head rotation. [Subjects and Methods] 70 infants with CMT were divided into grade I, grade II, and grade III according to the asymmetry of cervical rotation. Patients received ultrasound and massage therapy for 30 minutes, in conjunction with passive stretching exercises, 3 times a week. Repeated measurement results from interventions were presented from baseline, 3 months, and 6 months...
January 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28209896/hawkmoths-use-nectar-sugar-to-reduce-oxidative-damage-from-flight
#14
E Levin, G Lopez-Martinez, B Fane, G Davidowitz
Nectar-feeding animals have among the highest recorded metabolic rates. High aerobic performance is linked to oxidative damage in muscles. Antioxidants in nectar are scarce to nonexistent. We propose that nectarivores use nectar sugar to mitigate the oxidative damage caused by the muscular demands of flight. We found that sugar-fed moths had lower oxidative damage to their flight muscle membranes than unfed moths. Using respirometry coupled with δ(13)C analyses, we showed that moths generate antioxidant potential by shunting nectar glucose to the pentose phosphate pathway (PPP), resulting in a reduction in oxidative damage to the flight muscles...
February 17, 2017: Science
https://www.readbyqxmd.com/read/28209627/characterization-of-a-blood-spot-creatine-kinase-skeletal-muscle-isoform-immunoassay-for-high-throughput-newborn-screening-of-duchenne-muscular-dystrophy
#15
Stuart J Moat, Teemu Korpimäki, Petra Furu, Harri Hakala, Hanna Polari, Liisa Meriö, Pauliina Mäkinen, Ian Weeks
BACKGROUND: Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder with an average worldwide incidence of 1:5000. Blood spot creatine kinase (CK) enzyme assays previously used in newborn screening programs for DMD are nonspecific because measured CK enzyme activity is attributable to 3 isoenzyme forms of CK (CK-MM, CK-MB, and CK-BB) and it is the CK-MM isoform that is found predominantly in skeletal muscle. CK-MM is increased in boys with DMD owing to muscle damage...
February 16, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28208626/2-o-methyl-rna-ethylene-bridged-nucleic-acid-chimera-antisense-oligonucleotides-to-induce-dystrophin-exon-45-skipping
#16
REVIEW
Tomoko Lee, Hiroyuki Awano, Mariko Yagi, Masaaki Matsumoto, Nobuaki Watanabe, Ryoya Goda, Makoto Koizumi, Yasuhiro Takeshima, Masafumi Matsuo
Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting disease characterized by dystrophin deficiency from mutations in the dystrophin gene. Antisense oligonucleotide (AO)-mediated exon skipping targets restoration of the dystrophin reading frame to allow production of an internally deleted dystrophin protein with functional benefit for DMD patients who have out-of-frame deletions. After accelerated US approval of eteplirsen (Exondys 51), which targets dystrophin exon 51 for skipping, efforts are now focused on targeting other exons...
February 10, 2017: Genes
https://www.readbyqxmd.com/read/28207424/skeletal-muscle-wasting-new-role-of-nonclassical-renin-angiotensin-system
#17
Claudio Cabello-Verrugio, Juan C Rivera, Dominga Garcia
PURPOSE OF REVIEW: Skeletal muscle can be affected by many physiological and pathological conditions that contribute to the development of muscle weakness, including skeletal muscle loss, inflammatory processes, or fibrosis. Therefore, research into therapeutic treatment alternatives or alleviation of these effects on skeletal muscle is of great importance. RECENT FINDINGS: Recent studies have shown that angiotensin (1-7) [Ang-(1-7)] - a vasoactive peptide of the nonclassical axis in the renin-angiotensin system (RAS) - and its Mas receptor are expressed in skeletal muscle...
February 16, 2017: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/28205417/muscle-activation-and-heart-rate-responses-to-a-side-step-interval-exercise
#18
Robert S Thiebaud, Takashi Abe, Jonathan C Bravo, Nicolas Giovannitti, Avery P Sullivan
BACKGROUND: The side-step test is commonly used to assess agility. Side-step interval exercise may also be a potential way to improve cardiorespiratory and muscular fitness. However, the acute heart rate and muscle activation response to this type of exercise is not well established. In addition, different tempos can influence these responses. The purpose of this study was to determine the acute heart rate and muscle activation responses of a side-step interval exercise to different exercise tempos...
February 16, 2017: Clinical Physiology and Functional Imaging
https://www.readbyqxmd.com/read/28205131/what-to-expect-from-your-remote-eye-tracker-when-participants-are-unrestrained
#19
Diederick C Niehorster, Tim H W Cornelissen, Kenneth Holmqvist, Ignace T C Hooge, Roy S Hessels
The marketing materials of remote eye-trackers suggest that data quality is invariant to the position and orientation of the participant as long as the eyes of the participant are within the eye-tracker's headbox, the area where tracking is possible. As such, remote eye-trackers are marketed as allowing the reliable recording of gaze from participant groups that cannot be restrained, such as infants, schoolchildren and patients with muscular or brain disorders. Practical experience and previous research, however, tells us that eye-tracking data quality, e...
February 15, 2017: Behavior Research Methods
https://www.readbyqxmd.com/read/28205080/assessment-of-cu-zn-edta-parenteral-toxicity-in-calves
#20
Luis Emilio Fazzio, Diana Esther Rosa, Sebastian Julio Picco, Guillermo Alberto Mattioli
Copper (Cu) parenteral administration is used in a beef cow-calf operations to prevent or correct Cu deficiency in bovines. At present, Zinc (Zn) salts have been incorporated to complement Cu antioxidant effect. A risk of hepatotoxicity generated by overdose is a negative consequence of injectable Cu application. Cu-Zn EDTA appears as an alternative; however, data about its toxicity is unknown. The aim of this study was to assess toxicity risk of different doses of Cu-Zn EDTA in calves. Thirty two Aberdeen Angus calves of 162 (±20) kg BW were assigned to 4 groups (n = 8), homogeneous in weight, sex, and age...
February 15, 2017: Biological Trace Element Research
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