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https://www.readbyqxmd.com/read/28546380/respiratory-implications-of-pediatric-neuromuscular-disease
#1
Howard B Panitch
Children with progressive neuromuscular weakness undergo a stereotypical progression of respiratory involvement, beginning with impaired airway clearance and progressing to nocturnal and then diurnal ventilatory failure. This review examines issues related to airway clearance and mucus mobilization, sleep problems, and use of assisted ventilation in children with neuromuscular diseases. Interventions for each of these problems have been created or adapted for the pediatric population. The use of airway clearance therapies and assisted ventilation have improved survival of children with neuromuscular weakness...
June 2017: Respiratory Care
https://www.readbyqxmd.com/read/28546128/predictive-factors-of-intraoperative-cell-salvage-during-pediatric-scoliosis-surgery-cell-saver-during-scoliosis-surgery-in-children
#2
Daphné Michelet, Florence Julien-Marsollier, Julie Hilly, Thierno Diallo, Christophe Vidal, Souhayl Dahmani
INTRODUCTION: blood saving strategy during spinal surgery in children often includes recombinant erythropoietin (rEPO) and antifibrinolytic therapapy (AFT). The aim of this study was to investigate the efficacy of intraoperative blood salvage in decreasing homologous blood transfusion. MATERIAL AND METHODS: using the prospective data from patients operated during a one year period for scoliosis correction, we calculate the predictable hematocrit at day postoperative 1 without the use of blood salvage and compare it to the target hematocrit transfusion according to patient's status...
May 22, 2017: Anaesthesia, Critical Care & Pain Medicine
https://www.readbyqxmd.com/read/28545481/therapeutic-strategies-to-address-neuronal-nitric-oxide-synthase-deficiency-and-the-loss-of-nitric-oxide-bioavailability-in-duchenne-muscular-dystrophy
#3
REVIEW
Cara A Timpani, Alan Hayes, Emma Rybalka
Duchenne Muscular Dystrophy is a rare and fatal neuromuscular disease in which the absence of dystrophin from the muscle membrane induces a secondary loss of neuronal nitric oxide synthase and the muscles capacity for endogenous nitric oxide synthesis. Since nitric oxide is a potent regulator of skeletal muscle metabolism, mass, function and regeneration, the loss of nitric oxide bioavailability is likely a key contributor to the chronic pathological wasting evident in Duchenne Muscular Dystrophy. As such, various therapeutic interventions to re-establish either the neuronal nitric oxide synthase protein deficit or the consequential loss of nitric oxide synthesis and bioavailability have been investigated in both animal models of Duchenne Muscular Dystrophy and in human clinical trials...
May 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28545168/reliability-of-the-triple-timed-up-and-go-3tug-test
#4
Donald B Sanders, Jeffrey T Guptill, Kathy L Aleš, Lisa D Hobson-Webb, David P Jacobus, Riaz Mahmood, Janice M Massey, Melissa M Pittman, Kristi Prather, Shruti M Raja, Eric Yow, Vern C Juel
INTRODUCTION: We report the reliability of a new measure, the Triple Timed-Up-and-Go (3TUG) test, for assessing clinical function in patients with Lambert-Eaton myasthenia (LEM). METHODS: Intra-rater reproducibility and inter-rater agreement of the 3TUG were assessed in 25 control subjects, 24 patients with non-LEM neuromuscular disease and 12 LEM patients. The coverage probability (CP) method was the primary measure of reproducibility and agreement. The a priori acceptable range was <20% difference in 3TUG times and a CP ≥0...
May 25, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28539692/results-of-physiotherapy-treatments-in-exacerbations-of-chronic-obstructive-pulmonary-disease-a-systematic-review
#5
Irene Torres-Sánchez, Roberto Cruz-Ramírez, Irene Cabrera-Martos, Ana Díaz-Pelegrina, Marie Carmen Valenza
Purpose: The objective of this study was to review clinical trials of the effectiveness of physiotherapy compared with standard care, focused mainly on the functional status of patients hospitalized for acute exacerbation of chronic obstructive pulmonary disease (AECOPD). Methods: Search strategies were developed for each of the databases (PubMed, Scopus, and Web of Science). The study eligibility criteria were as follows: (1) The objective was to assess the effect and efficacy of physiotherapy compared with standard care (which included only medical and pharmacological treatment); (2) adults subjects had AECOPD; (3) one of the outcome measures was functional status, defined as an individual's ability to perform the normal daily activities required to meet basic needs, fulfill usual roles, and maintain health and well-being; (4) it was a clinical trial; (5) it was written in English; (6) it was published between January 2009 and February 2016; and (7) the full-text article was available...
2017: Physiotherapy Canada. Physiothérapie Canada
https://www.readbyqxmd.com/read/28537509/maugeri-centre-for-telehealth-and-telecare-a-real-life-integrated-experience-in-chronic-patients
#6
Simonetta Scalvini, Palmira Bernocchi, Emanuela Zanelli, Laura Comini, Michele Vitacca
Management of chronic diseases in a progressively aging population is a major issue in western industrialized countries and telehealth is one way to ensure the continuity of care in chronic illness. We describe here our personal experience in a telehealth and telecare centre in Italy. Between January 2000 and December 2015, 1635 elderly patients (71% male) with one or more comorbidities have undergone a telehealth program tailored to their specific disease: chronic obstructive pulmonary disease (COPD)/chronic respiratory insufficiency; amyotrophic lateral sclerosis/neuromuscular diseases; chronic heart failure (CHF); post-stroke; and post-cardiac surgery patients discharged from hospital after an acute event...
January 1, 2017: Journal of Telemedicine and Telecare
https://www.readbyqxmd.com/read/28535832/survey-of-canadian-myotonic-dystrophy-patients-access-to-computer-technology
#7
Seth A Climans, Christine Piechowicz, Wilma J Koopman, Shannon L Venance
BACKGROUND: Myotonic dystrophy type 1 is an autosomal dominant condition affecting distal hand strength, energy, and cognition. Increasingly, patients and families are seeking information online. An online neuromuscular patient portal under development can help patients access resources and interact with each other regardless of location. It is unknown how individuals living with myotonic dystrophy interact with technology and whether barriers to access exist. We aimed to characterize technology use among participants with myotonic dystrophy and to determine whether there is interest in a patient portal...
May 24, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28534855/rbc-adherence-of-immune-complexes-containing-botulinum-toxin-improves-neutralization-and-macrophage-uptake
#8
Fetweh H Al-Saleem, Rashmi Sharma, Rama Devudu Puligedda, Md Elias, Chandana Devi Kattala, Paul M Simon, Lance L Simpson, Scott K Dessain
In the paralytic disease botulism, the botulinum neurotoxin (BoNT) passes through the bloodstream to reach and inactivate neuromuscular junctions. Monoclonal antibodies (mAbs) may be useful BoNT countermeasures, as mAb combinations can rapidly clear BoNT from the blood circulation. We have previously shown that the BoNT-neutralizing potency of mAbs can be improved through red blood cell (RBC) immunoadherence. For example, a fusion protein (FP) that adheres biotinylated mAbs to the RBC surface enabled a pair of mAbs to neutralize 5000 LD50 BoNT/A in the mouse protection assay...
May 19, 2017: Toxins
https://www.readbyqxmd.com/read/28533764/serum-creatinine-distinguishes-duchenne-muscular-dystrophy-from-becker-muscular-dystrophy-in-patients-aged-%C3%A2-3-years-a-retrospective-study
#9
Liang Wang, Menglong Chen, Ruojie He, Yiming Sun, Juan Yang, Lulu Xiao, Jiqing Cao, Huili Zhang, Cheng Zhang
Here, we investigated correlations between serum creatinine (SCRN) levels and clinical phenotypes of dystrophinopathy in young patients. Sixty-eight patients with dystrophinopathy at the Neuromuscular Clinic, The First Affiliated Hospital, Sun Yat-sen University, were selected for this study. The diagnosis of dystrophinopathy was based on clinical manifestation, biochemical changes, and molecular analysis. Some patients underwent muscle biopsies; SCRN levels were tested when patients were ≤3 years old, and reading frame changes were analyzed...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28533404/repression-of-phosphatidylinositol-transfer-protein-%C3%AE-ameliorates-the-pathology-of-duchenne-muscular-dystrophy
#10
Natassia M Vieira, Janelle M Spinazzola, Matthew S Alexander, Yuri B Moreira, Genri Kawahara, Devin E Gibbs, Lillian C Mead, Sergio Verjovski-Almeida, Mayana Zatz, Louis M Kunkel
Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by X-linked inherited mutations in the DYSTROPHIN (DMD) gene. Absence of dystrophin protein from the sarcolemma causes severe muscle degeneration, fibrosis, and inflammation, ultimately leading to cardiorespiratory failure and premature death. Although there are several promising strategies under investigation to restore dystrophin protein expression, there is currently no cure for DMD, and identification of genetic modifiers as potential targets represents an alternative therapeutic strategy...
May 22, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28531774/clinical-assessment-underestimates-fat-mass-and-overestimates-resting-energy-expenditure-in-children-with-neuromuscular-diseases
#11
Salesa Barja, Regina Pérez
BACKGROUND: Nutritional problems are frequent among patients with neuromuscular diseases, who consequently need an adequate evaluation. OBJECTIVE: to describe nutritional assessment and to estimate and measure body composition and energy requirement in children with neuromuscular diseases. SUBJECTS AND METHODS: We performed anthropometry, skinfold measurement and bioelectric impedance analysis (BIA) for estimate and measure, respectively, fat mass (FM)...
October 2016: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/28523213/brachial-plexus-magnetic-resonance-imaging-differentiates-between-inflammatory-neuropathies-and-does-not-predict-disease-course
#12
Bas A Jongbloed, Jeroen W Bos, Dirk Rutgers, Willem Ludo van der Pol, Leonard H van den Berg
OBJECTIVE: The main objective of this study was to evaluate the correlation between the distribution of brachial plexus magnetic resonance imaging (MRI) abnormalities and clinical weakness, and to evaluate the value of brachial plexus MRI in predicting disease course and response to treatment in multifocal motor neuropathy (MMN), Lewis-Sumner syndrome (LSS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). METHODS: Sixty-seven patients with an inflammatory neuropathy diagnosed at our tertiary referral center for neuromuscular diseases had undergone bilateral T2-weighted short tau inversion recovery (STIR) MRI of the brachial plexus...
May 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28522225/genetic-screening-of-spinal-muscular-atrophy-using-a-real-time-modified-cop-pcr-technique-with-dried-blood-spot-dna
#13
Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Kenta Nakanishi, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Toshio Saito, Kayoko Saito, Poh San Lai, Yasuhiro Takeshima, Atsuko Takeuchi, Yoshihiro Bouike, Maya Okamoto, Hisahide Nishio, Masakazu Shinohara
BACKGROUND: Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by mutations in SMN1. More than 95% of SMA patients carry homozygous SMN1 deletion. SMA is the leading genetic cause of infant death, and has been considered an incurable disease. However, a recent clinical trial with an antisense oligonucleotide drug has shown encouraging clinical efficacy. Thus, early and accurate detection of SMN1 deletion may improve prognosis of many infantile SMA patients. METHODS: A total of 88 DNA samples (37 SMA patients, 12 carriers and 39 controls) from dried blood spots (DBS) on filter paper were analyzed...
May 15, 2017: Brain & Development
https://www.readbyqxmd.com/read/28520784/presynaptic-a%C3%AE-40-prevents-synapse-addition-in-the-adult-drosophila-neuromuscular-junction
#14
Begoña López-Arias, Enrique Turiégano, Ignacio Monedero, Inmaculada Canal, Laura Torroja
Complexity in the processing of the Amyloid Precursor Protein, which generates a mixture of βamyloid peptides, lies beneath the difficulty in understanding the etiology of Alzheimer's disease. Moreover, whether Aβ peptides have any physiological role in neurons is an unresolved question. By expressing single, defined Aβ peptides in Drosophila, specific effects can be discriminated in vivo. Here, we show that in the adult neuromuscular junction (NMJ), presynaptic expression of Aβ40 hinders the synaptic addition that normally occurs in adults, yielding NMJs with an invariable number of active zones at all ages tested...
2017: PloS One
https://www.readbyqxmd.com/read/28516284/short-chain-acyl-coa-dehydrogenase-deficiency-from-gene-to-cell-pathology-and-possible-disease-mechanisms
#15
REVIEW
Zahra Nochi, Rikke Katrine Jentoft Olsen, Niels Gregersen
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an inherited disorder of mitochondrial fatty acid oxidation that is characterized by the presence of increased butyrylcarnitine and ethylmalonic acid (EMA) concentrations in plasma and urine. Individuals with symptomatic SCADD may show relatively severe phenotype, while the majority of those who are diagnosed through newborn screening by tandem mass spectrometry may remain asymptomatic. As such, the associated clinical symptoms are very diverse, ranging from severe metabolic or neuromuscular disabilities to asymptomatic...
May 17, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28506261/a-possible-role-of-low-regulatory-t-cells-in-anti-acetylcholine-receptor-antibody-positive-myasthenia-gravis-after-bone-marrow-transplantation
#16
Masahiko Fukatsu, Takenobu Murakami, Hiroshi Ohkawara, Shunichi Saito, Kazuhiko Ikeda, Suguru Kadowaki, Itaru Sasaki, Mari Segawa, Tomoko Soeda, Akihiko Hoshi, Hiroshi Takahashi, Akiko Shichishima-Nakamura, Kazuei Ogawa, Yoshihiro Sugiura, Hitoshi Ohto, Yasuchika Takeishi, Takayuki Ikezoe, Yoshikazu Ugawa
BACKGROUND: Chronic graft-versus-host disease (GVHD) appears several months following allogenic hematopoietic stem cell transplantation (HSCT) and is clinically analogous to autoimmune disorder. Polymyositis is a common neuromuscular disorder in chronic GVHD, but myasthenia gravis (MG) is extremely rare. Hence, its pathophysiology and treatment have not been elucidated. CASE PRESENTATION: A 63-year-old man with a history of chronic GVHD presented with ptosis, dropped head, and dyspnea on exertion, which had worsened over the previous several months...
May 15, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28505534/discorhabdin-alkaloids-from-antarctic-latrunculia-spp-sponges-as-a-new-class-of-cholinesterase-inhibitors
#17
Tanja Botić, Andrea Defant, Pietro Zanini, Monika Cecilija Žužek, Robert Frangež, Dorte Janussen, Daniel Kersken, Željko Knez, Ines Mancini, Kristina Sepčić
The brominated pyrroloiminoquinone alkaloids discorhabdins B, L and G and 3-dihydro-7,8- dehydrodiscorhabdin C, isolated from methanol extracts of two specimens of Latrunculia sp. sponges collected near the Antarctic Peninsula, are here demonstrated for the first time to be reversible competitive inhibitors of cholinesterases. They showed Ki for electric eel acetylcholinesterase of 1.6-15.0 μM, for recombinant human acetylcholinesterase of 22.8-98.0 μM, and for horse serum butyrylcholinesterase of 5.0-76...
May 6, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28503469/motor-neuron-disease-presenting-with-acute-respiratory-failure-a-case-study
#18
Hyeonjun Oh, Seong Woong Kang, Won Ah Choi, Jang Woo Lee, Miri Suh, Eun Young Kim
Motor neuron diseases (MNDs) refer to a heterogeneous group of progressive neurologic disorders caused by degeneration of motor neurons. The diseases affect either the upper motor neurons, lower motor neurons, or both, and are characterized by weakness, atrophy, fasciculation, spasticity, and respiratory failure. We report a case of a 61-year-old male patient with no past history of cardiovascular or pulmonary disease, who presented with only dyspnea, and no indication of any other symptom such as muscle weakness, atrophy, or bulbar dysfunction...
April 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28500219/mechanisms-of-enhanced-phrenic-long-term-facilitation-in-sod1-g93a-rats
#19
Nicole L Nichols, Irawan Satriotomo, Latoya L Allen, Ashley M Grebe, Gordon S Mitchell
Amyotrophic lateral sclerosis (ALS) is a degenerative motor neuron disease, causing muscle paralysis and death from respiratory failure. Effective means to preserve/restore ventilation are necessary to increase the quality and duration of life in ALS patients. At disease end-stage in a rat ALS model (SOD1(G93A)), acute intermittent hypoxia (AIH) restores phrenic nerve activity to normal levels via enhanced phrenic long-term facilitation (pLTF). Mechanisms enhancing pLTF in end-stage SOD1(G93A) rats are not known...
May 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28500055/rnai-mediated-reverse-genetic-screen-identified-drosophila-chaperones-regulating-eye-and-neuromuscular-junction-morphology
#20
Sandeep Raut, Bhagaban Mallik, Arpan Parichha, Amrutha V, Chandan Sahi, Vimlesh Kumar
Accumulation of toxic proteins in neurons have been linked with the onset of neurodegenerative diseases, which in many cases, are characterized by altered neuronal function and synapse loss. Molecular chaperones help protein folding and resolubilization of unfolded proteins thereby reducing the protein aggregation stress. While most of the chaperones are expressed in neurons, their functional relevance largely remains unknown. Here, using bioinformatics analysis, we identified 95 Drosophila chaperones and classified them into seven different classes...
May 12, 2017: G3: Genes—Genomes—Genetics
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