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https://www.readbyqxmd.com/read/28735299/identification-of-the-first-dominant-mutation-of-lama5-gene-causing-a-complex-multisystem-syndrome-due-to-dysfunction-of-the-extracellular-matrix
#1
Simone Sampaolo, Filomena Napolitano, Alfonsina Tirozzi, Mafalda Giovanna Reccia, Luca Lombardi, Olimpia Farina, Adriano Barra, Ferdinando Cirillo, Mariarosa Anna Beatrice Melone, Fernando Gianfrancesco, Giuseppe Di Iorio, Teresa Esposito
BACKGROUND: The laminin alpha 5 gene (LAMA5) plays a master role in the maintenance and function of the extracellular matrix (ECM) in mammalian tissues, which is critical in developmental patterning, stem cell niches, cancer and genetic diseases. Its mutations have never been reported in human disease so far. The aim of this study was to associate the first mutation in LAMA5 gene to a novel multisystem syndrome. METHODS: A detailed characterisation of a three-generation family, including clinical, biochemical, instrumental and morphological analysis, together with genetics and expression (WES and RNAseq) studies, was performed...
July 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28734543/crouch-severity-is-a-poor-predictor-of-elevated-oxygen-consumption-in-cerebral-palsy
#2
Katherine M Steele, Benjamin R Shuman, Michael H Schwartz
Children with cerebral palsy (CP) expend more energy to walk compared to typically-developing peers. One of the most prevalent gait patterns among children with CP, crouch gait, is often singled out as especially exhausting. The dynamics of crouch gait increase external flexion moments and the demand on extensor muscles. This elevated demand is thought to dramatically increase energy expenditure. However, the impact of crouch severity on energy expenditure has not been investigated among children with CP. We evaluated oxygen consumption and gait kinematics for 573 children with bilateral CP...
July 5, 2017: Journal of Biomechanics
https://www.readbyqxmd.com/read/28733255/nanofiber-structured-hydrogel-yarns-with-ph-response-capacity-and-cardiomyocyte-drivability-for-bio-microactuator-application
#3
Shaohua Wu, Bin Duan, Xiaohong Qin, Jonathan T Butcher
Polymeric hydrogels have great potential in soft biological micro-actuator applications. However, inappropriate micro-architecture, non-anisotropy, weak biomechanics, and inferior response behaviors limit their development. In this study, we designed and manufactured novel polyacrylonitrile (PAN)-based hydrogel yarns composed with uniaxially aligned nanofibers. The nanofibrous hydrogel yarns possessed anisotropic architecture and robust mechanical properties with flexibility, and could be assembled into defined scaffold structures by subsequent processes...
July 18, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28729373/the-importance-of-managing-the-patient-and-not-the-gene-expanded-phenotype-of-gle1-associated-arthrogryposis
#4
Queenie K-G Tan, Allyn McConkie-Rosell, Jane Juusola, Kathryn E Gustafson, Carolyn E Pizoli, Anne F Buckley, Yong-Hui Jiang
GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome (LCCS1) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD); phenotypes reported in individuals include fetal akinesia and a severe form of motor neuron disease, typically presenting with prenatal symptoms and perinatal lethality. In this paper, we identified bi-allelic missense mutations in GLE1 by trio whole exome sequencing (WES) in an individual affected with congenital motor weakness and contractures as well as feeding and respiratory difficulties...
July 20, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28729039/congenital-myopathy-due-to-myosin-heavy-chain-2-mutation-presenting-as-chronic-aspiration-pneumonia-in-infancy
#5
R Tsabari, H Daum, E Kerem, Y Fellig, T Dor
A 7-week-old infant presented with persistent noisy breathing and aspirations during swallowing. Neurological examination and brain MRI were normal. His 12-year-old brother underwent pneumonectomy at the age of 10 years due to recurrent aspirations leading to severe lung damage. The older brother developed subsequently ophthalmoplegia and nystagmus along with mild weakness of the neck flexors and proximal muscles. Exome analysis revealed homozygosity for a novel truncating mutation p.G800fs27* in the Myosin Heavy Chain 2 (MYH2) gene in both brothers, while parents and an unaffected sibling were heterozygous...
June 27, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28728939/autonomic-dysreflexia-somatosympathetic-and-viscerosympathetic-vasoconstrictor-responses-to-innocuous-and-noxious-sensory-stimulation-below-lesion-in-human-spinal-cord-injury
#6
Rachael Brown, Alexander R Burton, Vaughan G Macefield
Autonomic dysreflexia is a dangerous elevation in blood pressure in people with spinal cord injury (SCI), produced by a spinally-mediated reflex activation of sympathetic vasoconstrictor neurones supplying skeletal muscle and the gut. Current dogma states that, apart from visceral inputs - such as those originating from a distended bladder or impacted colon - autonomic dysreflexia is triggered by noxious inputs below the lesion. However, while selective stimulation of small-diameter afferents in muscle or skin evokes a sustained increase in muscle sympathetic nerve activity and blood pressure, and a transient increase in skin sympathetic nerve activity and decrease in skin blood flow in able-bodied subjects, such noxious inputs have no effects on blood pressure and skin blood flow in SCI individuals...
July 13, 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/28727641/decreased-average-power-of-the-hip-external-muscles-as-a-predictive-parameter-for-lower-extremity-injury-in-women-a-prospective-study
#7
Ruth Verrelst, Damien Van Tiggelen, Roel De Ridder, Erik Witvrouw
OBJECTIVE: To prospectively identify hip strength associated risk factors contributing to the development of lower extremity (LE) injury. DESIGN: Data were prospectively collected on healthy female physical education students. SETTING: This study was conducted in the institution of the University of Ghent. PARTICIPANTS: Eighty-nine female physical education students aged 19.53 ± 1.07 years. ASSESSMENT OF RISK FACTORS: Testing included isokinetic hip strength measurements of abductors, adductors, internal rotators, and external rotators (ERs)...
July 14, 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/28725025/an-atypical-case-of-spg56-cyp2u1-related-spastic-paraplegia-presenting-with-delayed-myelination
#8
Gaku Minase, Satoko Miyatake, Shin Nabatame, Hiroshi Arai, Eriko Koshimizu, Takeshi Mizuguchi, Mitsuko Nakashima, Noriko Miyake, Hirotomo Saitsu, Toshinobu Miyamoto, Kazuo Sengoku, Naomichi Matsumoto
Hereditary spastic paraplegia (HSP) is a neurological disorder characterized by a progressive spasticity and muscle weakness of the lower limbs. It is divided into two subtypes, uncomplicated and complicated forms. Biallelic mutations in the cytochrome P450 2U1 gene (CYP2U1) are associated with spastic paraplegia type 56 (SPG56), manifesting both uncomplicated and complicated HSP. Accompanying clinical features include intellectual disability, dystonia, cerebellar ataxia, subclinical peripheral neuropathy, visual impairment, as well as abnormalities in brain magnetic resonance imaging...
July 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28724783/intra-and-intersegmental-influences-among-central-pattern-generating-networks-in-the-walking-system-of-the-stick-insect
#9
Charalampos Mantziaris, Till Bockemühl, Philip Holmes, Anke Borgmann, Silvia Daun, Ansgar Bueschges
In order to efficiently move around, animals need to coordinate their limbs. Proper, context-dependent coupling among the neural networks underlying leg movement is necessary for generating intersegmental coordination. In the slow-walking stick insect local sensory information is very important for shaping coordination. However, central coupling mechanisms among segmental central pattern generators (CPGs) may also contribute to this. Here, we analyzed the interactions between contralateral networks that drive the depressor trochanteris muscle of the legs in both isolated and interconnected deafferented thoracic ganglia of the stick insect upon application of pilocarpine, a muscarinic acetylcholine receptor agonist...
July 19, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28723717/localized-muscle-vibration-reverses-quadriceps-muscle-hypotrophy-and-improves-physical-function-a-clinical-and-electrophysiological-study
#10
Maria Grazia Benedetti, Gennaro Boccia, Lorenzo Cavazzuti, Elena Magnani, Elisabetta Mariani, Alberto Rainoldi, Roberto Casale
Quadriceps weakness has been associated with knee osteoarthritis (OA). High-frequency localized muscle vibration (LMV) has been proposed recently for quadriceps strengthening in patients with knee OA. The purpose of this study was (a) to investigate the clinical effectiveness of high-frequency LMV on quadriceps muscle in patients with knee OA and (b) to disentangle, by means of surface electromyography (sEMG), the underlying mechanism. Thirty patients, aged between 40 and 65 years, and clinically diagnosed with knee OA were included in this randomized, controlled, single-blinded pilot study...
July 18, 2017: International Journal of Rehabilitation Research. Revue Internationale de Recherches de Réadaptation
https://www.readbyqxmd.com/read/28722618/clinical-evidence-of-acute-mesoamerican-nephropathy
#11
Rebecca S B Fischer, Sreedhar Mandayam, Denis Chavarria, Chandan Vangala, Melissa N Garcia, Linda L Garcia, Lesbia Palma, Felix Garcia, Ramón García-Trabanino, Kristy O Murray
Mesoamerican nephropathy (MeN), an epidemic of unexplained kidney disease in Central America, affects mostly young, healthy individuals. Its etiology is a mystery that requires urgent investigation. Largely described as a chronic kidney disease (CKD), no acute clinical scenario has been characterized. An understanding of the early disease process could elucidate an etiology and guide treatment and prevention efforts. We sought to document the earliest clinical signs in patients with suspected MeN in a high-risk population in Nicaragua...
July 17, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28721426/co-localization-of-macrophage-inhibitory-factor-and-nix-in-skeletal-muscle-of-the-aged-male-interleukin-10-null-mouse
#12
P Abadir, F Ko, R Marx, L Powell, E Kieserman, H Yang, J Walston
Chronic inflammation is associated with muscle weakness and frailty in older adults. The antagonistic cross-talk between macrophage migration inhibitory factor (Mif), an anti-apoptotic cytokine and NIP3-like protein X (Nix), a pro-apoptotic mitochondrial protein, may play a role in mitochondrial free radical homeostasis and inflammatory myopathies. We examined Nix-Mif interaction in inflammation and aging using young and old, IL-10tm/tm (a rodent model of chronic inflammation) and C57BL/6 mice. In this study, we observed that Nix and Mif were co-localized in skeletal muscles of aged and inflamed mice...
2017: Journal of Frailty & Aging
https://www.readbyqxmd.com/read/28720599/hyperacute-muscle-weakness-in-an-unusual-coexistence-of-antisignal-recognition-particle-and-anti-mi-2-antibodies
#13
Richard Oluyinka Akintayo, Olanrewaju Festus Agbola, Abiodun Waliyullah Adeyemo, Olufemi Adelowo
Idiopathic inflammatory myopathies are a heterogeneous group of systemic diseases characterised by variable phenotypes of chronic progressive muscle weakness. Myositis-specific antibodies (MSAs) include antibodies to cytoplasmic signal recognition particle (SRP) and various tRNA synthetases as well as the nuclear helicase protein Mi-2. These antibodies are typically found only in a fraction of true myositis cases and they tend to be mutually exclusive. Few cases of coexistence of two MSAs in the same patient have been reported and these cases all involve an antisynthetase antibody coexisting with either anti-SRP or anti-Mi-2 antibody...
July 18, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28717665/identification-of-an-alu-element-mediated-deletion-in-the-promoter-region-of-gne-in-siblings-with-gne-myopathy
#14
Jennifer Garland, Joshi Stephen, Bradley Class, Angela Gruber, Carla Ciccone, Aaron Poliak, Christina P Hayes, Vandana Singhal, Christina Slota, John Perreault, Ralitza Gavrilova, Joseph A Shrader, Prashant Chittiboina, Galen Joe, John Heiss, William A Gahl, Marjan Huizing, Nuria Carrillo, May Christine V Malicdan
BACKGROUND: GNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)-N-acetylglucosamine (GlcNAc) 2-epimerase/N-acetylmannosamine (ManNAc) kinase. Typical characteristics of GNE myopathy include progressive myopathy, first involving anterior tibialis muscle and sparing the quadriceps, and rimmed vacuoles on muscle biopsy. Identifying biallelic mutations by sequencing of the GNE gene confirms the diagnosis of GNE myopathy...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28717093/paraneoplastic-anti-3-hydroxy-3-methylglutary-coenzyme-a-reductase-antibody-positive-immune-mediated-necrotizing-myopathy-in-a-patient-with-uterine-cancer
#15
Atsushi Mizuma, Maiko Kouchi, Shizuka Netsu, Sachiko Yutani, Ruriko Kitao, Shigeaki Suzuki, Kenya Murata, Eiichiro Nagata, Shunya Takizawa
We report the case of a 69-year-old woman with proximal limb muscle weakness, who received post-operative chemotherapy for uterine cancer. Her serum creatinine kinase level was high (10,779 mg/dL) and a muscle biopsy from her left biceps revealed various sizes of muscle fibers accompanied by necrotic and regenerating fibers. She was positive for anti-3 hydroxy-3-methylglutary-coenzyme A reductase (anti-HMGCR) antibodies, but negative for anti-signal recognition particle (anti-SRP) antibodies. She was diagnosed with immune-mediated necrotizing myopathy (IMNM) and treated with prednisolone...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28717088/long-term-effects-of-intravenous-cyclophosphamide-in-combination-with-mesna-provided-intravenously-and-via-bladder-perfusion-in-a-patient-with-severe-multifocal-motor-neuropathy
#16
Eri Iwasawa, Takuya Ohkubo, Tadashi Kanouchi, Takashi Kanda, Hidehiro Mizusawa, Takanori Yokota
A 25-year-old woman presenting with progressive muscle weakness in the distal extremities in the absence of sensory involvement for 2 years was diagnosed with multifocal motor neuropathy (MMN). Her disease was difficult to manage with various immunosuppressants, and the muscle weakness eventually progressed to involve the respiratory muscles, necessitating mechanical ventilation. Intravenous cyclophosphamide (CY) dramatically improved her symptoms, and she has since maintained her ambulatory status for 18 years with intermittent CY therapy...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28717081/severe-glomerular-endothelial-injury-associated-with-a-short-d4z4-repeat-on-chromosome-4q35
#17
Satoshi Hibino, Asami Takeda, Ichizo Nishino, Naoyuki Iwata, Masaru Nakano, Kazuki Tanaka, Satoshi Yamakawa, Takuhito Nagai, Osamu Uemura
The short D4Z4 repeat on chromosome 4q35 is a confirmatory genetic cause of facioscapulohumeral muscular dystrophy (FSHD), which presents with no renal complications. We herein report a five-year-old girl previously diagnosed with Coat's-like retinopathy, deafness, and mental retardation, who was found to have early-onset, severe FSHD. Despite the absence of muscle weakness, a Southern blot analysis showed a short D4Z4 repeat on chromosome 4q35. She presented with steroid-resistant nephrotic syndrome, and her renal histopathological findings were severe glomerular endothelial injury, which is a new complication associated with this genetic abnormality...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28716694/-isolated-long-thoracic-nerve-palsy-more-than-meets-the-eye
#18
Andrés A Maldonado, Scott L Zuckerman, B Matthew Howe, Michelle L Mauermann, Robert J Spinner
INTRODUCTION: Two main hypotheses have been proposed for the pathophysiology of long thoracic nerve (LTN) palsy: nerve compression and nerve inflammation. We hypothesized that critical reinterpretation of electrodiagnostic (EDX) studies and MRIs of patients with a diagnosis of non-traumatic isolated LTN palsy could provide insight into the pathophysiology and, potentially, the treatment. MATERIAL AND METHODS: A retrospective review was performed of all patients with a diagnosis of non-traumatic isolated LTN palsy and an EDX and brachial plexus or shoulder MRI studies performed at our institution...
June 27, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28716623/a-second-truncation-in-ttn-causes-early-onset-recessive-muscular-dystrophy
#19
Elizabeth Harris, Ana Töpf, Anna Vihola, Anni Evilä, Rita Barresi, Judith Hudson, Peter Hackman, Brian Herron, Daniel MacArthur, Hanns Lochmüller, Kate Bushby, Bjarne Udd, Volker Straub
Mutations in the gene encoding the giant skeletal muscle protein titin are associated with a variety of muscle disorders, including recessive congenital myopathies ±cardiomyopathy, limb girdle muscular dystrophy (LGMD) and late onset dominant distal myopathy. Heterozygous truncating mutations have also been linked to dilated cardiomyopathy. The phenotypic spectrum of titinopathies is emerging and expanding, as next generation sequencing techniques make this large gene amenable to sequencing. We undertook whole exome sequencing in four individuals with LGMD...
June 22, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28716538/reliability-of-pelvic-floor-muscle-electromyography-tested-on-healthy-women-and-women-with-pelvic-floor-muscle-dysfunction
#20
Irene Koenig, Helena Luginbuehl, Lorenz Radlinger
OBJECTIVES: Electromyography (EMG) is a well-established method to quantify the relative pelvic floor muscle (PFM) activity. PFM EMG has shown good reliability in healthy women. However, its reliability has not been tested in women with PFM dysfunction. The reliability of EMG analysis methods concerning EMG normalization needs to be determined to assess specific therapeutic interventions. Therefore, the aim of this study was to investigate the intra-session reliability of PFM EMG variables by using 3 different analysis methods in women with PFM dysfunction...
July 14, 2017: Annals of Physical and Rehabilitation Medicine
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