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https://www.readbyqxmd.com/read/29458173/deregulation-of-nrf2-are-signaling-pathway-causes-susceptibility-of-dystrophin-deficient-myotubes-to-menadione-induced-oxidative-stress
#1
Su Jin Choi, Hye Sun Kim
Duchenne muscular dystrophy (DMD) is an X chromosome-linked disorder caused by a mutation in the dystrophin gene. Many previous studies reported that the skeletal muscles of DMD patients were more susceptible to oxidative stress than those of healthy people. However, not much has been known about the responsible mechanism of the differential susceptibility. In this study, we established dystrophin knock-down (DysKD) cell lines by transfection of dystrophin shRNA lentiviral particles into C2 cells and found that DysKD myotubes are more vulnerable to menadione-induced oxidative stress than control myotubes...
February 16, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29458111/ppar%C3%AE-modulation-rescues-mitochondrial-fatty-acid-oxidation-defects-in-the-mdx-model-of-muscular-dystrophy
#2
Eric L Bell, Robert W Shine, Peter Dwyer, Lyndsay Olson, Jennifer Truong, Ross Fredenburg, Matthew Goddeeris, Dominique Stickens, Effie Tozzo
Duchenne muscular dystrophy (DMD) is a recessive, fatal X-linked disease that is characterized by progressive skeletal muscle wasting due to the absence of dystrophin, which is an a essential protein that bridges the inner cytoskeleton and extra-cellular matrix. This study set out to characterize the mitochondria in primary muscle satellite cell derived myoblasts from mdx mice and wild type control mice. Compared to wild type derived cells the mdx derived cells have reduced mitochondrial bioenergetics and have fewer mitochondria...
February 16, 2018: Mitochondrion
https://www.readbyqxmd.com/read/29458012/klf10-gene-expression-modulates-fibrosis-in-dystrophic-skeletal-muscle
#3
Joseph X DiMario
Dystrophic skeletal muscle is characterized by fibrotic accumulation of extracellular matrix components that compromise muscle structure, function, and capacity for regeneration. Tissue fibrosis is often initiated and sustained through transforming growth factor β (TGFβ) signaling, and KLF10 is an immediate early gene that is transcriptionally activated in response to TGFβ signaling. It encodes a transcriptional regulator that mediates the effects of TGFβ signaling in a variety of cell types. This report presents results of investigation of the effects of loss of KLF10 gene expression in wild-type and dystrophic (mdx) skeletal muscle...
February 16, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29457464/assessment-of-dna-methylation-patterns-in-the-bone-and-cartilage-of-a-nonhuman-primate-model-of-osteoarthritis
#4
Genevieve Housman, Lorena M Havill, Ellen E Quillen, Anthony G Comuzzie, Anne C Stone
Objective Osteoarthritis (OA) affects humans and several other animals. Thus, the mechanisms underlying this disorder, such as specific skeletal tissue DNA methylation patterns, may be evolutionary conserved. However, associations between methylation and OA have not been readily studied in nonhuman animals. Baboons serve as important models of disease and develop OA at rates similar to those in humans. Therefore, this study investigated the associations between methylation and OA in baboons to advance the evolutionary understanding of OA...
February 1, 2018: Cartilage
https://www.readbyqxmd.com/read/29457425/-progress-on-research-of-madelung-s-deformity
#5
REVIEW
Yu-Xin Song, Zeng-Ping Wang, Lin Liu, Wen Xue, Zhong-Yu Hao, Qun-Li Zhang, Wei She, Li-Yang Cai, Hai-Tao Gou, Yao-Wen Qian
Madelung deformity is a rare deformity of forearm and wrist caused by growth disorders of distal radius ulnar and palmar epiphyseal. Current studies showed that its incidence mainly associated with trauma, epiphyseal developmental abnormalities, nutritional disorders and genetic deletion or mutation. The early clinical presentation is not typical, in middle and late time, wrist deformity and weak can appear. Plain film considered as the main means of diagnosis is often lack of early diagnosis significance. Although wrist joint magnetic resonance imaging showing early soft tissue and skeletal abnormalities were used for the early diagnosis of the disease, current domestic study in magnetic resonance imaging of this deformity is less...
October 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29457112/anesthetic-management-during-a-cesarean-section-in-a-patient-with-cleidocranial-dysplasia-a-case-report
#6
Yumiko Nishio, Teruyuki Hiraki, Hiroko Taniguchi, Kazuo Ushijima
Background: Cleidocranial dysplasia is a type of skeletal dysplasia, which is primarily characterized by delayed ossification of skeletal structures. It causes facial and oral abnormalities, resulting in difficult airway management and neuraxial anesthesia. Case presentation: The patient was a 24-year-old primipara (height 138 cm, weight 42 kg) with a hypoplastic right clavicle, patent fontanelles, dental malalignment, and a high palate. She was diagnosed with cleidocranial dysplasia at birth, although gene examination has not been performed...
2018: JA Clin Rep
https://www.readbyqxmd.com/read/29456892/under-the-armor-x-ray-computed-tomographic-reconstruction-of-the-internal-skeleton-of-coahomasuchus-chathamensis-archosauria-aetosauria-from-the-upper-triassic-of-north-carolina-usa-and-a-phylogenetic-analysis-of-aetosauria
#7
Devin K Hoffman, Andrew B Heckert, Lindsay E Zanno
Aetosauria is a clade of heavily armored, quadrupedal omnivorous to herbivorous archosaurs known from the Late Triassic across what was the supercontinent of Pangea. Their abundance in many deposits relative to the paucity of other Triassic herbivores indicates that they were key components of Late Triassic ecosystems. However, their evolutionary relationships remain contentious due, in large part, to their extensive dermal armor, which often obstructs observation of internal skeletal anatomy and limits access to potentially informative characters...
2018: PeerJ
https://www.readbyqxmd.com/read/29456759/ossification-of-the-phalanges-of-the-foot-and-its-relationship-to-peak-height-velocity-and-the-calcaneal-system
#8
M R Garcia, A D Nicholson, A M Nduaguba, J O Sanders, R W Liu, D R Cooperman
Purpose: There are multiple skeletal maturity grading systems, but none of them utilizes the phalanges of the foot. To minimize radiation, it would be ideal if one could assess the skeletal maturity of a foot based on bones seen on routine foot radiographs, if guided growth is being considered as a treatment option. We developed a system that correlates changes of the appearance of the foot phalanges to peak height velocity (PHV) and the recently described calcaneal apophyseal ossification grading system...
February 1, 2018: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/29456758/binary-and-analogue-markers-of-skeletal-maturity-clinical-utility-of-the-thenar-and-plantar-sesamoids
#9
A D Nicholson, J O Sanders, R W Liu, D R Cooperman
Purpose: We investigate the thenar and plantar sesamoids as markers of skeletal maturity, and grade appearance using two scales, a binary system (absent or present), and an analogue system that relies upon judging regular changes in morphological appearance. Methods: We studied 94 healthy children (49 female and 45 male patients) between ages three and 18 years who had approximately 700 serially acquired sets of radiographs and physical examinations. The children had at least annual radiographs taken of the left hand and left foot...
February 1, 2018: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/29456757/the-natural-history-of-spinal-deformity-in-patients-with-coffin-lowry-syndrome
#10
M Welborn, S Farrell, P Knott, E Mayekar, S Mardjetko
Purpose: Little is known about the natural history of spinal deformities in Coffin-Lowry syndrome (CLS). Our goal was to evaluate the spinal deformity progression and clinical impact. Methods: In this institutional review board-approved study, we performed a multinational retrospective review of six male CLS patients, aged 13 to 22 years at final follow-up, for a mean of 7.25 years (3 to 13). Results: All showed delayed skeletal maturity. Three had calcifications of their lower cervical ligamentum flavum, all experienced neural axis abnormalities, including lower extremity weakness, numbness and tingling and in one, quadriparesis...
February 1, 2018: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/29456755/preliminary-results-of-an-anteverting-triple-periacetabular-osteotomy-for-the-treatment-of-hip-instability-in-down-syndrome
#11
D A Maranho, Y-J Kim, K A Williams, E N Novais
Purpose: To investigate the outcomes of an anteverting triple periacetabular osteotomy for the treatment of hip instability in skeletally immature patients with Down syndrome. Methods: We evaluated 16 patients (21 hips) with Down syndrome and hip instability who underwent an anteverting triple periacetabular osteotomy between 2007 and 2016. There were nine females and seven males with an average age of 7.4 years SD 2.0. We assessed the level of hip pain, gait ability and clinical stability at a minimum of one year after surgery...
February 1, 2018: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/29456754/management-of-osteonecrosis-of-the-femoral-head-in-children-with-sickle-cell-disease-results-of-conservative-and-operative-treatments-at-skeletal-maturity
#12
C Mallet, A Abitan, C Vidal, L Holvoet, K Mazda, A-L Simon, B Ilharreborde
Purpose: Sickle cell disease (SCD) is the most common cause of femoral head osteonecrosis (ONFH) during childhood with an overall prevalence of 10%. In children, spontaneous revascularization can occur, as in Legg-Calve-Perthes disease. Consequently, the aim of treatment is to restore proper hip containment to prevent joint arthritis. This is the first study reporting long-term results at skeletal maturity of non-operative and surgical treatments for ONFH in SCD children. Methods: All children with ONFH due to SCD were retrospectively reviewed...
February 1, 2018: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/29456750/paediatric-tibial-shaft-fractures-treated-by-open-reduction-and-stabilization-with-monolateral-external-fixation
#13
A-L Simon, N Apostolou, C Vidal, E Ferrero, K Mazda, B Ilharreborde
Purpose: Elastic stable intramedullary nailing is increasingly used for surgical treatment of tibial shaft fractures, but frequently requires immobilization and delayed full weight-bearing. Therefore, external fixation remains interesting. The aim was to report clinico-radiological outcomes of monolateral external fixation for displaced and unstable tibial shaft fractures in children. Methods: All tibial fractures consecutively treated by monolateral external fixation between 2008 and 2013 were followed...
February 1, 2018: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/29456480/novel-homozygous-missense-mutation-in-ryr1-leads-to-severe-congenital-ptosis-ophthalmoplegia-and-scoliosis-in-the-absence-of-myopathy
#14
Nafi Dilaver, Neda Mazaheri, Reza Maroofian, Jawaher Zeighami, Tahere Seifi, Mina Zamani, Alireza Sedaghat, Gholam Reza Shariati, Hamid Galehdari
Ryanodine receptor 1 ( RYR1 ) is an intracellular calcium receptor primarily expressed in skeletal muscle with a role in excitation contraction. Both dominant and recessive mutations in the RYR1 gene cause a range of RYR1 -related myopathies and/or susceptibility to malignant hyperthermia (MH). Recently, an atypical manifestation of ptosis, variably presenting with ophthalmoplegia, facial paralysis, and scoliosis but without significant muscle weakness, has been reported in 9 cases from 4 families with bialleic variants in RYR1 ...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29456477/dual-diagnosis-of-ellis-van-creveld-syndrome-and-hearing-loss-in-a-consanguineous-family
#15
Barbara Vona, Reza Maroofian, Geetu Mendiratta, Matthew Croken, Siwu Peng, Xiaoqian Ye, Jamileh Rezazadeh, Paulina Bahena, Caroline Lekszas, Thomas Haaf, Lisa Edelmann, Lisong Shi
Multilocus analysis of rare or genetically heterogeneous diseases is a distinct advantage of next-generation sequencing (NGS) over conventional single-gene investigations. Recent studies have begun to uncover an under-recognized prevalence of dual molecular diagnoses in patients with a "blended" phenotype that is the result of 2 clinical diagnoses involving 2 separate genetic loci. This blended phenotype could be mistakenly interpreted as a novel clinical extension of a single-gene disorder. In this study, we ascertained a proband from a large consanguineous Iranian family who manifests postlingual, progressive, moderate hearing loss in addition to suspected Ellis-van Creveld syndrome phenotype...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29455575/exercise-counteracts-the-homeostatic-decrease-in-thermogenesis-caused-by-caloric-restriction-in-sheep
#16
John-Paul Fuller-Jackson, Iain J Clarke, Alexandra Rao, Belinda A Henry
Caloric restriction causes a homeostatic reduction in thermogenesis. We aimed to determine whether exercise could counteract this. We studied four groups of normal-weight ewes ( n = 5), including control sedentary fed ad libitum, exercise fed ad libitum (30 min/d, 5 d/wk), diet-restricted (70% of ad libitum food intake), and combined diet and exercise. Temperature probes implanted in sternal and retroperitoneal adipose tissue and skeletal muscle measured thermogenesis. After the 4-wk intervention, hypothalami were collected for in situ hybridization, and fat and muscle biopsies were collected for real-time PCR and Western blotting...
February 13, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29455416/pharmacological-inhibition-of-the-skeletal-ikk%C3%AE-reduces-breast-cancer-induced-osteolysis
#17
Silvia Marino, Ryan T Bishop, Patrick Mollat, Aymen I Idris
IKKβ has previously been implicated in breast cancer bone metastasis and bone remodelling. However, the contribution of IKKβ expressed by bone cells of the tumour microenvironment to breast cancer-induced osteolysis has yet to be investigated. Here, we studied the effects of the verified selective IKKβ inhibitors IKKβIII or IKKβV on osteoclast formation and osteoblast differentiation in vitro and in vivo, human and mouse breast cancer cells' support for osteoclast formation and signalling in vitro and osteolysis ex vivo and in immunocompetent mice after supracalvarial injection of human MDA-MB-231 conditioned medium or intra-cardiac injection of syngeneic 4T1 breast cancer cells...
February 17, 2018: Calcified Tissue International
https://www.readbyqxmd.com/read/29455305/photobiomodulation-pbm-therapy-at-904-nm-mitigates-effects-of-exercise-induced-skeletal-muscle-fatigue-in-young-women
#18
Renata Luri Toma, Murilo Xavier Oliveira, Ana Cláudia Muniz Renno, E-Liisa Laakso
Muscle fatigue is a process influenced by several mechanisms such as concentration of metabolic substrates, changes in blood flow, and increases in reactive oxygen species that impair contractile muscle function. In this context, photobiomodulation has been investigated for preventing muscle fatigue, with reports of positive effects on muscle performance. This study aimed to investigate the effects of 904-nm LASER photobiomodulation on rectus femoris muscle performance in young women. Eighteen young women participated in a randomized, participant and assessor-blinded crossover trial with placebo control...
February 17, 2018: Lasers in Medical Science
https://www.readbyqxmd.com/read/29455204/low-skeletal-muscle-density-is-associated-with-early-death-in-patients-with-perihilar-cholangiocarcinoma-regardless-of-subsequent-treatment
#19
Jeroen L A van Vugt, Marcia P Gaspersz, Jaynee Vugts, Stefan Buettner, Stef Levolger, Ron W F de Bruin, Wojciech G Polak, Jeroen de Jonge, François E J A Willemssen, Bas Groot Koerkamp, Jan N M IJzermans
BACKGROUND: Low skeletal muscle mass is associated with increased postoperative morbidity and worse survival following resection for perihilar cholangiocarcinoma (PHC). We investigated the predictive value of skeletal muscle mass and density for overall survival (OS) of all patients with suspected PHC, regardless of treatment. METHODS: Baseline characteristics and parameters regarding disease and treatment were collected from all patients with PHC from 2002 to 2014...
February 16, 2018: Digestive Surgery
https://www.readbyqxmd.com/read/29454826/diagnosis-follow-up-and-management-of-sleep-disordered-breathing-in-children-with-osteogenesis-imperfecta
#20
Antoine Léotard, Jessica Taytard, Marion Aouate, Michèle Boule, Veronique Forin, Pauline Lallemant-Dudek
OBJECTIVES: Osteogenesis imperfecta (OI) is the most common genetic skeletal disorder. Extraskeletal findings are common but an association with sleep disordered breathing (SDB) has never been described. The aim of this study was to investigate clinical features of children with OI and suspected SDB. METHODS: A retrospective study of clinical records, signs of SDB and polysomnographic recordings of children with OI was performed. We paid particular attention to symptoms that could be associated with SDB in this population - scoliosis, kyphosis, vertebral arthrodesis, chest wall deformities, basilar impression, autonomy - as well as data already known to be associated with obstructive sleep apnea such as body mass index and upper airway impairment...
February 15, 2018: Annals of Physical and Rehabilitation Medicine
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