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Claudia Castiglioni, Fabiana Fattori, Bjarne Udd, Maria de Los Angeles Avaria, Bernardita Suarez, Adele D'Amico, Alessandro Malandrini, Rosalba Carrozzo, Daniela Verrigni, Enrico Bertini, Giorgio Tasca
We identified three non-related patients manifesting a childhood-onset progressive neuromyopathy with congenital cataracts, delayed walking, distal weakness and wasting, glaucoma and swallowing difficulties. Electrophysiology and nerve biopsies showed a mixed axonal and demyelinating neuropathy, while muscle biopsy disclosed both neurogenic and myopathic changes with ragged red fibers, and muscle MRI showed consistent features across patients, with a peculiar concentric disto-proximal gradient of fatty replacement...
January 22, 2018: European Journal of Human Genetics: EJHG
Alina Scridon, Răzvan Constantin Şerban, Philippe Chevalier
A 55-year-old hypertensive patient presents atrial fibrillation after vasovagal syncope. Non-invasive cardiac workup is normal. Without antiarrhythmic therapy, the patient has no recurrence for the next 3years, then presents with a stroke. Echocardiography eventually reveals left atrial dilation. This sequence of events illustrates the well-known links between age, arterial hypertension, atrial fibrillation, atrial neuromyopathy and stroke. A frequently neglected common denominator in this equation is impaired sympathovagal balance...
January 2018: Archives of Cardiovascular Diseases
Jérome Morel, Jean-Charles Palao, Josiane Castells, Marine Desgeorges, Thierry Busso, Serge Molliex, Vanessa Jahnke, Peggy Del Carmine, Julien Gondin, David Arnould, Anne Cécile Durieux, Damien Freyssenet
Sepsis induced loss of muscle mass and function contributes to promote physical inactivity and disability in patients. In this experimental study, mice were sacrificed 1, 4, or 7 days after cecal ligation and puncture (CLP) or sham surgery. When compared with diaphragm, locomotor muscles were more prone to sepsis-induced muscle mass loss. This could be attributed to a greater activation of ubiquitin-proteasome system and an increased myostatin expression. Thus, this study strongly suggests that the contractile activity pattern of diaphragm muscle confers resistance to atrophy compared to the locomotor gastrocnemius muscle...
September 7, 2017: Scientific Reports
Fei Xie, Su Min, Jingyuan Chen, Jun Yang, Xin Wang
Sepsis initiates a neuroinflammatory cascade that contributes to spinal cord inflammation and behavioral impairment, and Toll-like receptor 4 (TLR4) is an important mediator of this cascade. In this study, we tested the hypothesis that ulinastatin (ULI) inhibits sepsis-induced spinal inflammation to alleviate peripheral neuromuscular dysfunction through the TLR4/myeloid differentiation factor 88 (MyD88)/NF-κB signaling pathway. Muscular function, spinal cord water content, and cytokine levels of spinal cord were tested in TLR4-inhibited rats subjected to cecal ligation and puncture (CLP)...
October 2017: Journal of Neurochemistry
Christopher L Kramer, Andrea J Boon, C Michel Harper, Brent P Goodman
INTRODUCTION: We sought to determine the specificity of compound muscle action potential (CMAP) durations and amplitudes in a large critical illness neuromyopathy (CINM) cohort relative to controls with other neuromuscular conditions. METHODS: Fifty-eight patients with CINM who had been seen over a 17-year period were retrospectively studied. Electrodiagnostic findings of the CINM cohort were compared with patients with axonal peripheral neuropathy and myopathy due to other causes...
March 2018: Muscle & Nerve
Claire Briet, Gwladys Bourdenet, Ute C Rogner, Chantal Becourt, Isabelle Tardivel, Laurent Drouot, Christophe Arnoult, Jean-Claude do Rego, Nicolas Prevot, Charbel Massaad, Olivier Boyer, Christian Boitard
Abrogation of ICOS/ICOS ligand (ICOSL) costimulation prevents the onset of diabetes in the non-obese diabetic (NOD) mouse but, remarkably, yields to the development of a spontaneous autoimmune neuromyopathy. At the pathological level, ICOSL(-/-) NOD mice show stronger protection from insulitis than their ICOS(-/-) counterparts. Also, the ICOSL(-/-) NOD model carries a limited C57BL/6 region containing the Icosl nul mutation, but, in contrast to ICOS(-/-) NOD mice, no gene variant previously reported as associated to NOD diabetes...
2017: Frontiers in Immunology
Ashok Kumar, Anshul Goel, Mehul Lapsiwala, Suman Singhal
Systemic rheumatoid vasculitis (SRV) can develop in rheumatoid arthritis of long duration and high disease activity. It most commonly manifests as cutaneous vasculitis and mononeuritis multiplex. This can involve any organ of the body and carries very high mortality. We report a case of a young male who had rheumatoid arthritis for the past 15 years and became refractory to standard drugs and anti-TNF agents. He subsequently developed SRV, which started as mononeuritis multiplex. Disease progressed to result in gangrene of hands and feet despite receiving intravenous cyclophosphamide...
November 2016: Oxford Medical Case Reports
Eoin Mulroy, Sarah Gleeson, Michael James Furlong
Ketoacidosis is an important but under-recognized complication of neuromuscular disease, in particular spinal muscular atrophy. This easily treatable condition is largely overlooked in best practice guidelines, and lack of awareness contributes to adverse outcomes in this patient population. Neuromyopathy associated ketosis should be considered in all patients with severe muscle wasting presenting with an elevated anion gap metabolic ketoacidosis. Treatment is simple, effective, and should be instituted early...
August 30, 2016: Journal of Neuromuscular Diseases
D J Lewis-Smith, J Duff, A Pyle, H Griffin, T Polvikoski, D Birchall, R Horvath, P F Chinnery
OBJECTIVE: To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS: Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of genetic variants, and segregation analysis of the likely causal mutation. Functional studies included Western blot analysis of the candidate protein before and after heat shock treatment of primary skin fibroblasts. RESULTS: A novel HSPB1 variant (c...
December 2016: Neurology. Genetics
Yi-Chia Su, Chih-Chien Wu
A 54-year-old woman presented at the emergency department after experiencing lower limb weakness and bilateral ankle pain for 2 days. She had a history of type 2 diabetes mellitus, diabetes mellitus nephropathy with chronic kidney disease, and chronic gouty arthritis. She had received 0.6 mg colchicine orally once or twice daily for 8 months. Four days prior to her emergency department visit, she was discharged from our nephrology ward, where she had been admitted because of a urinary tract infection. During hospitalization, she was treated with intravenous cefazolin for 7 days...
December 2015: Drug Safety—Case Reports
Shweta S Duggal, Chirag Shah
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Neetu Ramrakhiani
No abstract text is available yet for this article.
July 2016: Neurology India
Christina Marciniak, Ashwin Babu, Leda Ghannad, Richard Burnstine, Susan Keeshin
An 83-year-old man with multiple medical problems, including gout, pseudogout, and renal insufficiency, presented with more than a year of proximal weakness. He had an extensive previous medical workup, including a normal creatinine kinase. His weakness persisted despite endurance and strength training. Electrodiagnostic findings were consistent with a myopathy, although without abnormal spontaneous activity and a length-dependent neuropathy. On the basis of these findings, colchicine was discontinued. The patient experienced marked symptomatic improvement within a week...
March 10, 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Lakshmi Vas, Sushama Phanse, Renuka Pai
UNLABELLED: We present a new perspective of neuromyopathy in pancreatic cancer pain (PCP) referral to bodywall; proposal of new rationale to include ultrasound guided dry needling (USGDN) of body wall muscles as an effective adjunct to neurolytic coeliac plexus block (NCPB) or splanchnic nerve radiofrequency ablation (SRF) for comprehensive interventional management. METHODS: PCP response to SRF in 2 patients and NCPB in 3 patients was documented on numerical rating scale (NRS) on post procedure days 3 and 15...
January 2016: Indian Journal of Palliative Care
Djillali Annane
Neuromuscular blocking agents and corticosteroids are widely used in medicine and in particular in the intensive care unit (ICU). Neuromuscular blockade is commonly used to ease tracheal intubation, to optimize mechanical ventilation and oxygenation in acute respiratory disorders such as status asthmaticus and acute respiratory distress syndrome (ARDS), to prevent shivering during therapeutic hypothermia, and also in patients with elevated intracranial pressure. In the ICU, patients with sepsis, ARDS, community-acquired pneumonia, exacerbation of chronic obstructive pulmonary disease, severe asthma, or trauma may receive corticosteroids...
February 2016: Seminars in Respiratory and Critical Care Medicine
P Rocheteau, L Chatre, D Briand, M Mebarki, G Jouvion, J Bardon, C Crochemore, P Serrani, P P Lecci, M Latil, B Matot, P G Carlier, N Latronico, C Huchet, A Lafoux, T Sharshar, M Ricchetti, F Chrétien
Sepsis, or systemic inflammatory response syndrome, is the major cause of critical illness resulting in admission to intensive care units. Sepsis is caused by severe infection and is associated with mortality in 60% of cases. Morbidity due to sepsis is complicated by neuromyopathy, and patients face long-term disability due to muscle weakness, energetic dysfunction, proteolysis and muscle wasting. These processes are triggered by pro-inflammatory cytokines and metabolic imbalances and are aggravated by malnutrition and drugs...
December 15, 2015: Nature Communications
Sergio Bagnato, Chiara Minà, Antonino Sant'Angelo, Cristina Boccagni, Caterina Prestandrea, Alessandra Caronia, Francesco Clemenza, Giuseppe Galardi
Neuropathies may affect heart reinnervation and functional outcome after heart transplantation (HT). In this study, neurological evaluations, standard nerve conduction studies, and electromyography were performed in 32 HT candidates without a previous history of neuromuscular disorder. Ten patients underwent HT and were revaluated 3 months later. We found that before HT 10 (31.3%) patients had sensorimotor polyneuropathy (18.8%) or sensory polyneuropathy (12.5%). After HT, the percentage of patients with a neuromuscular disorder increased to 70%, most of them showing new or worsening neuropathies or neuromyopathies...
March 2016: Neurological Sciences
Samar Medani, Catherine Wall
Colchicine is an approved agent in the management and prophylaxis of gout and familial Mediterranean fever but its therapeutic value is limited by its narrow therapeutic index. Multisystem toxicity is uncommonly reported; and is often associated with renal impairment and/or specific drug interactions. We report two cases of colchicine toxicity marked by severe neuromyopathy in a diabetic with stage 4 chronic kidney disease (CKD) and a renal transplant recipient. Both patients presented with diarrhea, acute on chronic kidney injury and progressive muscle weakness while on colchicine for several weeks or longer...
August 2016: Clinical Nephrology
Jingying Ye
The sleep breathing disorders (SDB) include obstructive sleep apnea (OSA), central sleep apnea disorders, sleep related hypoventilation disorders, and sleep related hypoxemia disorder in international classification of sleep diseases 3rd edition (ICSD-3). Latest diagnosis criteria are introduced. Treatments, which target to Individual contributors, should be applied. Thus identification of the phenotype in patients with OSA is important. The methods of evaluation patients' arousal thresholds, loop gain as well as neuromyopathy in clinical setting are reported...
March 2015: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
Margherita Capasso, Maria Vittoria De Angelis, Antonio Di Muzio, Francesca Anzellotti, Laura Bonanni, Astrid Thomas, Marco Onofrj
Akinetic crisis (AC) is a life-threatening complication of parkinsonism characterized by an acute severe akinetic-hypertonic state, consciousness disturbance, hyperthermia, and muscle enzymes elevation. Injectable dopaminomimetic drugs, high-dose methylprednisolone, and dantrolene are advocated as putative specific treatments. The course of the illness is frequently complicated by infections, pulmonary embolism, renal failure, disseminated intravascular coagulation, and cardiac arrhythmias. Critical illness neuromyopathy (CINM) is an acquired neuromuscular disorder characterized by flaccid quadriparesis and muscle enzyme elevation, often occurring in intensive care units and primarily associated with inactivity, sepsis, multiorgan failure, neuromuscular blocking agents, and steroid treatment...
July 2015: Medicine (Baltimore)
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