keyword
https://read.qxmd.com/read/33354762/biallelic-loss-of-function-hacd1-variants-are-a-bona-fide-cause-of-congenital-myopathy
#1
Lia Abbasi-Moheb, Ana Westenberger, Maha Alotaibi, Malak Ali Alghamdi, Jozef L Hertecant, Amir Ariamand, Christian Beetz, Arndt Rolfs, Aida M Bertoli-Avella, Peter Bauer
Congenital myopathies include a wide range of genetically determined disorders characterized by muscle weakness that usually manifest shortly after birth. To date, two different homozygous loss-of-function variants in the HACD1 gene have been reported to cause congenital myopathy. We identified three patients manifesting with neonatal-onset generalized muscle weakness and motor delay that carried three novel homozygous likely pathogenic HACD1 variants. The two of these changes (c.373_375+2delGAGGT and c.785-1G>T) were predicted to introduce splice site alterations, while one is a nonsense change (c...
December 22, 2020: Clinical Genetics
https://read.qxmd.com/read/33314477/neck-flexors-weakness-at-diagnosis-predicts-respiratory-impairment-in-amyotrophic-lateral-sclerosis
#2
R Vasta, M C Torrieri, F D'Ovidio, A Circiello, F De Mattei, U, Manera, A Canosa, A Calvo, A Chiò, C Moglia
OBJECTIVES: To assess the prognostic role of neck muscles weakness at diagnosis in Amyotrophic Lateral Sclerosis (ALS) patients with respect to survival and respiratory impairment. METHODS: We conducted a retrospective cohort study. All ALS patients seen in the Turin ALS Center from 2007 to 2014 were included. Muscles strength at diagnosis was evaluated using the Medical Research Council (MRC) scale. Survival was considered as time from diagnosis to death or tracheostomy; time to respiratory impairment was considered as the interval from diagnosis to the first event among ALSFRSr 10 item <4, forced vital capacity <70%, start of non-invasive ventilation or tracheostomy...
December 12, 2020: European Journal of Neurology
https://read.qxmd.com/read/33303013/does-photobiomodulation-therapy-combined-to-static-magnetic-field-pbmt-smf-promote-ergogenic-effects-even-when-the-exercised-muscle-group-is-not-irradiated-a-randomized-triple-blind-placebo-controlled-trial
#3
Caroline Dos Santos Monteiro Machado, Heliodora Leão Casalechi, Adriane Aver Vanin, Jônatas Bezerra de Azevedo, Paulo de Tarso Camillo de Carvalho, Ernesto Cesar Pinto Leal-Junior
BACKGROUND: The direct application of photobiomodulation therapy (PBMT) using low-level laser therapy (LLLT) and light emitting diodes (LEDs) combined with a static magnetic field (sMF) (PBMT-sMF) to target tissues is shown to improve muscle performance and recovery. Studies have reported possible PBMT effects when a local distant to the target tissue is irradiated. Notably, the extent of these effects on musculoskeletal performance and the optimal site of irradiation remain unclear, although this information is clinically important since these aspects could directly affect the magnitude of the effect...
August 26, 2020: BMC Sports Science, Medicine and Rehabilitation
https://read.qxmd.com/read/33106121/the-influence-of-carbohydrate-ingestion-on-peripheral-and-central-fatigue-during-exercise-in-hypoxia-a-narrative-review
#4
Hunter L Paris, Erin C Sinai, Ren-Jay Shei, Alexandra M Keller, Timothy D Mickleborough
Hypoxia impairs aerobic performance by accelerating fatiguing processes. These processes may originate from sites either distal (peripheral) or proximal (central) to the neuromuscular junction, though these are not mutually exclusive. Peripheral mechanisms include decrements in muscle glycogen or fluctuations in intramuscular metabolites, whereas central responses commonly refer to reductions in central motor drive elicited by alterations in blood glucose and neurotransmitter concentrations as well as arterial hypoxemia...
October 27, 2020: European Journal of Sport Science
https://read.qxmd.com/read/32916383/delayed-symptomatic-spinal-adhesive-arachnoiditis-after-surgery-for-thoracolumbar-flexion-distraction-injury-a-case-report
#5
Dong-Ju Lim, Jong-Min Sohn
BACKGROUND: Adhesive arachnoiditis is an uncommon lesion caused by an inflammatory reaction in spinal nerves. Reports of substantial symptomatic thoracolumbar (TL) adhesive arachnoiditis after spinal surgery are rare. To the best of our knowledge, this is the first presentation of delayed adhesive arachnoiditis with cauda equina syndrome after decompression and fusion for a traumatic TL flexion-distraction injury. PRESENTATION OF CASE: A 51-year-old man presented to the emergency room with absence of lower extremity muscle power and partial sensation preservation below T12 after slipping...
August 29, 2020: International Journal of Surgery Case Reports
https://read.qxmd.com/read/32864144/does-photobiomodulation-therapy-combined-to-static-magnetic-field-pbmt-smf-promote-ergogenic-effects-even-when-the-exercised-muscle-group-is-not-irradiated-a-randomized-triple-blind-placebo-controlled-trial
#6
Caroline Dos Santos Monteiro Machado, Heliodora Leão Casalechi, Adriane Aver Vanin, Jônatas Bezerra de Azevedo, Paulo de Tarso Camillo de Carvalho, Ernesto Cesar Pinto Leal-Junior
Background: The direct application of photobiomodulation therapy (PBMT) using low-level laser therapy (LLLT) and light emitting diodes (LEDs) combined with a static magnetic field (sMF) (PBMT-sMF) to target tissues is shown to improve muscle performance and recovery. Studies have reported possible PBMT effects when a local distant to the target tissue is irradiated. Notably, the extent of these effects on musculoskeletal performance and the optimal site of irradiation remain unclear, although this information is clinically important since these aspects could directly affect the magnitude of the effect...
2020: BMC Sports Science, Medicine and Rehabilitation
https://read.qxmd.com/read/32823742/stable-longitudinal-methylation-levels-at-the-cpg-sites-flanking-the-ctg-repeat-of-dmpk-in-patients-with-myotonic-dystrophy-type-1
#7
Mathis Hildonen, Kirsten Lykke Knak, Morten Dunø, John Vissing, Zeynep Tümer
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder mainly characterized by gradual muscle loss, weakness, and delayed relaxation after muscle contraction. It is caused by an expanded CTG repeat in the 3' UTR of DMPK , which is transcribed into a toxic gain-of-function mRNA that affects the splicing of a range of other genes. The repeat is unstable, with a bias towards expansions both in somatic cells and in the germline, which results in a tendency for earlier onset with each generation, as longer repeat lengths generally correlate with earlier onset...
August 13, 2020: Genes
https://read.qxmd.com/read/32684373/megdel-syndrome
#8
REVIEW
Josef Finsterer, Fulvio A Scorza, Ana C Fiorini, Carla A Scorza
MEGDEL syndrome is an autosomal recessive disorder, clinically characterized by 3-methylglutaconic aciduria, psychomotor delay, muscle hypotonia, sensorineural deafness, and Leigh-like lesions on brain magnetic resonance imaging. MEGDEL syndrome is due to mutations in the serine active site-containing protein 1 (SERAC1) gene. The SERAC1 protein is localized at the interface between the mitochondria and the endoplasmic reticulum in the mitochondrion-associated membrane fraction, which is essential for phospholipid exchange...
September 2020: Pediatric Neurology
https://read.qxmd.com/read/32440610/pain-inhibition-is-not-affected-by-exercise-induced-pain
#9
Tibor M Szikszay, Waclaw M Adamczyk, Ewa Wojtyna, Kerstin Luedtke
Introduction: Offset analgesia (OA) and conditioned pain modulation (CPM) are frequently used paradigms to assess the descending pain modulation system. Recently, it was shown that both paradigms are reduced in chronic pain, but the influence of acute pain has not yet been adequately examined. Objectives: The aim of this study is to investigate OA and CPM after exercise-induced pain to evaluate whether these tests can be influenced by delayed-onset muscle soreness (DOMS) at a local or remote body site...
March 2020: Pain Reports
https://read.qxmd.com/read/31858811/epidemiological-and-clinical-features-of-amyotrophic-lateral-sclerosis-in-a-tunisian-cohort
#10
Imen Kacem, Ikram Sghaier, Sabrine Bougatef, Amina Nasri, Amina Gargouri, Senda Ajroud-Driss, Riadh Gouider
Objective: To describe the phenotypic heterogeneity of amyotrophic lateral sclerosis (ALS) in Tunisian patients, and to define the sociodemographic features, treatments, and survival rate with ALS. Methodology: The study included 210 patients with ALS diagnosed between 2003 and 2019 in The Neurology department, Razi Hospital Tunisia. ALS patients were phenotyped and followed until their death. Results: median age of ALS onset was 54.93 ± 14.08 years (men = 56.21 ± 12.58, women = 52.36 ± 16.49)...
February 2020: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://read.qxmd.com/read/31784971/a-case-of-severe-early-onset-neuropathy-caused-by-a-compound-heterozygous-deletion-of-the-pmp22-gene-clinical-and-neurographic-aspects
#11
Stefano D'Arrigo, Valeria Tessarollo, Franco Taroni, Silvia Baratta, Chiara Pantaleoni, Elena Schiaffi, Claudia Ciano
Heterozygous deletions of the gene PMP22 are associated to hereditary neuropathy with liability to pressure palsies (HNPP), a demyelinating neuromuscular disease causing variable transitory focal muscles weakness. Deletions involving both copies of PMP22 cause more severe phenotypes, with early-onset neuropathy and impairment in motor development. We report a patient with a severe early-onset demyelinating neuropathy, caused by two different inherited deletions of PMP22 , whose parents had an HNPP. The patient showed neurological signs and delay in motor development but normal intellective abilities...
November 29, 2019: Neuropediatrics
https://read.qxmd.com/read/31474859/the-preclinical-pharmacological-study-of-a-novel-long-acting-local-anesthetic-a-fixed-dose-combination-of-qx-oh-levobupivacaine-in-rats
#12
YuJun Zhang, QinQin Yin, DeYing Gong, Yi Kang, Jun Yang, Jin Liu, WenSheng Zhang
Introduction: Previous studies demonstrated that 35 mM QX-OH/10 mM Levobupivacaine (LL-1), a fixed-dose combination, produced a long-acting effect in rat local anesthesia models. All preclinical pharmacodynamic results indicated that LL-1 had potential for postsurgical pain treatment. The objective of this study was to investigate the pharmacokinetics of LL-1. Then, the possible mechanism of the extended duration by the combination was examined. Methods and Results: All experiments were examined and approved by the Committee of Animal Care of the West China Hospital Sichuan University (Ethical approval number, 2015014A)...
2019: Frontiers in Pharmacology
https://read.qxmd.com/read/31281076/resistance-training-enhances-delayed-memory-in-healthy-middle-aged-and-older-adults-a-randomised-controlled-trial
#13
Kieran J Marston, Jeremiah J Peiffer, Stephanie R Rainey-Smith, Nicole Gordon, Shaun Y Teo, Simon M Laws, Hamid R Sohrabi, Ralph N Martins, Belinda M Brown
OBJECTIVES: High-intensity exercise is a potential therapeutic tool to postpone or prevent the onset of cognitive decline. However, there is a lack of sufficient evidence regarding the longitudinal effects of structured resistance training on cognitive function in healthy adults. The purpose of this study was to investigate the effect of two ecologically valid, intense 12-week resistance training programs on cognitive function in late middle-aged adults. DESIGN: Single-site parallel randomised controlled trial at the Department of Exercise Science strength and conditioning laboratory...
June 27, 2019: Journal of Science and Medicine in Sport
https://read.qxmd.com/read/31077250/effect-and-safety-of-treatment-with-ace-inhibitor-enalapril-and-%C3%AE-blocker-metoprolol-on-the-onset-of-left-ventricular-dysfunction-in-duchenne-muscular-dystrophy-a-randomized-double-blind-placebo-controlled-trial
#14
RANDOMIZED CONTROLLED TRIAL
Sven Dittrich, Erika Graf, Regina Trollmann, Ulrich Neudorf, Ulrike Schara, Antje Heilmann, Maja von der Hagen, Brigitte Stiller, Janbernd Kirschner, Robert Dalla Pozza, Wolfgang Müller-Felber, Katja Weiss, Katja von Au, Markus Khalil, Reinald Motz, Christoph Korenke, Martina Lange, Ekkehard Wilichowski, Joseph Pattathu, Friedrich Ebinger, Nicola Wiechmann, Rolf Schröder
BACKGROUND: X-linked Duchenne muscular dystrophy (DMD), the most frequent human hereditary skeletal muscle myopathy, inevitably leads to progressive dilated cardiomyopathy. We assessed the effect and safety of a combined treatment with the ACE-inhibitor enalapril and the β-blocker metoprolol in a German cohort of infantile and juvenile DMD patients with preserved left ventricular function. METHODS TRIAL DESIGN: Sixteen weeks single-arm open run-in therapy with enalapril and metoprolol followed by a two-arm 1:1 randomized double-blind placebo-controlled treatment in a multicenter setting...
May 10, 2019: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/31059838/myalgia-and-chronic-fatigue-syndrome-following-immunization-macrophagic-myofasciitis-and-animal-studies-support-linkage-to-aluminum-adjuvant-persistency-and-diffusion-in-the-immune-system
#15
REVIEW
Romain K Gherardi, Guillemette Crépeaux, François-Jérome Authier
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a multifactorial and poorly undersood disabling disease. We present epidemiological, clinical and experimental evidence that ME/CFS constitutes a major type of adverse effect of vaccines, especially those containing poorly degradable particulate aluminum adjuvants. Evidence has emerged very slowly due to the multiplicity, lack of specificity, delayed onset, and frequent medical underestimation of ME/CFS symptoms. It was supported by an epidemiological study comparing vaccinated vs unvaccinated militaries that remained undeployed during Gulf War II...
May 4, 2019: Autoimmunity Reviews
https://read.qxmd.com/read/30859320/paraspinal-muscle-function-and-pain-sensitivity-following-exercise-induced-delayed-onset-muscle-soreness
#16
Jacques Abboud, Arianne Lessard, Mathieu Piché, Martin Descarreaux
PURPOSE: The aim of this study was to evaluate the effectiveness of an exercise protocol designed to induce delayed-onset muscle soreness (DOMS) in paraspinal muscles and its effects on low back functional capacities. METHODS: Twenty-four healthy participants were asked to perform four series of 25 trunk flexion-extension in a prone position (45° inclined Roman chair). The protocol was performed using loads corresponding to participant's trunk weight plus 10% of their trunk extension maximal voluntary contraction...
March 11, 2019: European Journal of Applied Physiology
https://read.qxmd.com/read/30294372/early-morbidity-associated-with-fasciotomies-for-acute-compartment-syndrome-in-children
#17
K B L Lim, T Laine, J Y Chooi, W K Lye, B J Y Lee, U G Narayanan
Purpose: Acute compartment syndrome (ACS) requires urgent fasciotomy to decompress the relevant muscle compartment/s prior to onset of irreversible myonecrosis and nerve injury. A fasciotomy is not a benign procedure. This study aims to describe and quantify early morbidity directly associated with fasciotomies for ACS in children. Methods: Clinical charts of 104 children who underwent 112 fasciotomies over a 13-year period at a tertiary children's hospital were reviewed...
October 1, 2018: Journal of Children's Orthopaedics
https://read.qxmd.com/read/29974297/expanding-the-phenotype-of-the-x-linked-bcor-microphthalmia-syndromes
#18
Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea, Benjamin Cogné, Wallid Deb, Marie Vincent, Jessica Le Gall, Jenny Morton, Derek Lim, Guylène Le Meur, Celia Zazo Seco, Dimitra Zafeiropoulou, Dorine Bax, Petra Zwijnenburg, Anara Arteche, Saoud Tahsin Swafiri, Ruth Cleaver, Meriel McEntagart, Usha Kini, William Newman, Carmen Ayuso, Marta Corton, Yvan Herenger, Médéric Jeanne, Patrick Calvas, Nicolas Chassaing
Two distinct syndromes arise from pathogenic variants in the X-linked gene BCOR (BCL-6 corepressor): oculofaciocardiodental (OFCD) syndrome, which affects females, and a severe microphthalmia ('Lenz'-type) syndrome affecting males. OFCD is an X-linked dominant syndrome caused by a variety of BCOR null mutations. As it manifests only in females, it is presumed to be lethal in males. The severe male X-linked recessive microphthalmia syndrome ('Lenz') usually includes developmental delay in addition to the eye findings and is caused by hypomorphic BCOR variants, mainly by a specific missense variant c...
July 4, 2018: Human Genetics
https://read.qxmd.com/read/29865015/several-days-of-muscle-hyperalgesia-facilitates-cortical-somatosensory-excitability
#19
E De Martino, L Petrini, S Schabrun, T Graven-Nielsen
Background and aims Maladaptive plasticity in neural circuits has been proposed in chronic musculoskeletal pain and has been discussed as a key component of the transition from acute to chronic pain. The induction of delayed onset muscle soreness (DOMS) in healthy individuals is one method that can be used to investigate the adaptations of neural circuits in response to several days of muscle hyperalgesia. The aim of this study was to determine the adaptations of the sensory cortex in response to muscle hyperalgesia induced by eccentric exercise of the wrist extensor muscles...
December 29, 2017: Scandinavian Journal of Pain
https://read.qxmd.com/read/29803671/cortical-somatosensory-excitability-is-modulated-in-response-to-several-days-of-muscle-soreness
#20
Enrico De Martino, Laura Petrini, Siobhan Schabrun, Thomas Graven-Nielsen
Changes in excitability of the sensorimotor cortex have been demonstrated in clinical musculoskeletal pain, although the timing is unknown. Eccentric exercise provokes delayed-onset muscle soreness providing a model to study the temporal profile of sensorimotor cortical plasticity during progressively developing muscle soreness. Twelve healthy participants performed eccentric exercise of the wrist extensors. Likert pain scores, pressure pain thresholds at the extensor carpi radialis (ECR) muscle, somatosensory evoked potentials from electrical stimulation of the radial nerve, maximal wrist extension force, and ECR motor evoked potentials to transcranial magnetic stimulation were recorded before (baseline) and at 2 hours (2-h post), 2 days (day 2), and 6 days (day 6) after exercise...
November 2018: Journal of Pain
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