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neuromuscular disorder

Hadil Ak AlOtair, Abdulaziz H Alzeer, Mohammed A Abdou, Shaden O Qasrawi
Central alveolar hypoventilation is rarely encountered. This case report describes a young woman who was recently diagnosed with hypertension and ischemic heart disease. She presented to the emergency room with hypercapnic respiratory failure, for which she was mechanically ventilated. This was preceded by an acute upper respiratory tract infection. She was initially suspected to have Guillain-Barré syndrome, but further investigations ruled out neuromuscular or autoimmune disorders. Sleep-related hypoventilation was suspected after she experienced recurrent apneas at night that resulted in re-intubation...
March 2018: Saudi Medical Journal
Joery P Molenaar, Nicol C Voermans, Lysanne A de Jong, Dick F Stegeman, Jonne Doorduin, Baziel G van Engelen
Impaired muscle relaxation is a feature of many neuromuscular disorders. However, there are few tests available to quantify muscle relaxation. Transcranial magnetic stimulation (TMS) of the motor cortex can induce muscle relaxation by abruptly inhibiting corticospinal drive. The aim of our study is to investigate if repeatability and reliability of TMS-induced relaxation is greater than voluntary relaxation. Furthermore, effects of sex, cooling and fatigue on muscle relaxation properties were studied. Muscle relaxation of deep finger flexors was assessed in twenty-five healthy subjects (14 M and 11 F, aged 39...
March 15, 2018: Journal of Applied Physiology
Genia Dubrovsky, James C Y Dunn
PURPOSE OF REVIEW: The purpose of this review is to briefly summarize the notable structures and pathways in intestinal epithelial growth before presenting the current main areas of active research in intestinal regeneration. As a rapidly advancing field, a number of breakthroughs have recently been made related to the culture of intestinal stem cells (ISCs) and to the engineering of intestinal tissue. RECENT FINDINGS: ISCs can be derived from fibroblasts and can be cultured in hydrogels under xenogeneic-free conditions...
March 13, 2018: Current Opinion in Pediatrics
Katherine B Santosa, Alexandra M Keane, Albina Jablonka-Shariff, Bianca Vannucci, Alison K Snyder-Warwick
The terminal Schwann cell (tSC), a type of nonmyelinating Schwann cell, is a significant yet relatively understudied component of the neuromuscular junction. In addition to reviewing the role tSCs play on formation, maintenance, and remodeling of the synapse, we review studies that implicate tSCs in neuromuscular diseases including spinal muscular atrophy, Miller-Fisher syndrome, and amyotrophic lateral sclerosis, among others. We also discuss the importance of these cells on degeneration and regeneration after nerve injury...
March 13, 2018: Journal of Neuroscience Research
Heather Lindstrom, Nigel L Ashworth
INTRODUCTION: This study aims to evaluate the usefulness of electrodiagnostic (EDX) studies in terms of the patient's diagnosis and subsequent management, and to identify patient groups where EDX is particularly useful. METHODS: The records of new patients referred to a single tertiary hospital EDX laboratory during one calendar year were reviewed to determine if EDX studies changed the diagnosis and/or management plan. Logistic regression was used to see if there were any factors that were associated with changed diagnosis or management...
March 13, 2018: Muscle & Nerve
Kazuchika Suzuki, Hiroaki Sakai, Kenji Takahashi
We herein report anesthetic management during aortic valve replacement for aortic valve regurgitation in a patient with adult mucopolysaccharidosis type II (MPS type 2) (Hunter syndrome). This disorder is rare and related to the accumulation of a mucopolysaccharide in lysosomes. It affects various organs, including the airways, heart, and central nerves. In children with MPS type 2, the risk of airway obstruction during anesthesia/sedation is high, and the degree of difficulty increases with aging. The patient described herein was a 33-year-old male without mental retardation...
2018: JA Clin Rep
Melissa R Mandarakas, Kristy J Rose, Oranee Sanmaneechai, Manoj P Menezes, Kathryn M Refshauge, Joshua Burns
A functional outcome measure for infants (aged 0-3 years) with Charcot-Marie-Tooth disease (CMT) is needed for upcoming disease-modifying trials. A systematic review of outcome measures for infants with neuromuscular disorders was completed to determine if validated measures were available for the CMT infant population. We assessed 20,375 papers and identified seven functional outcome measures for infants with neuromuscular disorders. Six were developed and validated for Spinal Muscular Atrophy (SMA). There were no CMT-specific outcome measures identified, however one (Motor Function Measure) assessed a range of neuromuscular disorders including 13 infants and children with CMT...
March 9, 2018: Journal of the Peripheral Nervous System: JPNS
Stuart J Grice, James N Sleigh, M Zameel Cader
Dominant mutations in GARS , encoding the ubiquitous enzyme glycyl-tRNA synthetase (GlyRS), cause peripheral nerve degeneration and Charcot-Marie-Tooth disease type 2D (CMT2D). This genetic disorder exemplifies a recurring paradigm in neurodegeneration, in which mutations in essential genes cause selective degeneration of the nervous system. Recent evidence suggests that the mechanism underlying CMT2D involves extracellular neomorphic binding of mutant GlyRS to neuronally-expressed proteins. Consistent with this, our previous studies indicate a non-cell autonomous mechanism, whereby mutant GlyRS is secreted and interacts with the neuromuscular junction (NMJ)...
2018: Frontiers in Molecular Neuroscience
M Leontien van der Bent, Omar Paulino da Silva Filho, Judith van Luijk, Roland Brock, Derick G Wansink
Antisense oligonucleotide (AON)-based therapies hold promise for a range of neurodegenerative and neuromuscular diseases and have shown benefit in animal models and patients. Success in the clinic is nevertheless still limited, due to unfavourable biodistribution and poor cellular uptake of AONs. Extensive research is currently being conducted into the formulation of AONs to improve delivery, but thus far there is no consensus on which of those strategies will be the most effective. This systematic review was designed to answer in an unbiased manner which delivery strategies most strongly enhance the efficacy of AONs in animal models of heritable neurodegenerative and neuromuscular diseases...
March 8, 2018: Scientific Reports
Mohsen Abedi, Majid M Moghaddam, Davoud Fallah
Since the past decade, rehabilitation robots have become common technologies for recovering gait ability after a stroke. Nevertheless, it is believed that these robots can be further enhanced. Hence, several researches are making progress in optimizing gait rehabilitation robots. However, most of these researches have only assessed the robots and their controllers in improving spatiotemporal and kinetic features of walking. There are not many researchers have focused on the robots' controllers' effects on the central nervous or neuromuscular systems...
March 5, 2018: Mathematical Biosciences
Jeong-Ki Kim, Umrao R Monani
Spinal muscular atrophy (SMA) is a common and oft-fatal pediatric neuromuscular disorder caused by insufficient SMN protein. Now, two clinical trials (Mendell et al., 2017; Finkel et al., 2017) demonstrate that restoring the protein is therapeutic, offering new treatment options and renewed hope to SMA patients.
March 7, 2018: Neuron
Ryo Ueta, Yuji Yamanashi
The neuromuscular junction(NMJ)is the synapse between a motor neuron and the skeletal muscle that is essential for muscle contraction. Impairments at the NMJ lead to neuromuscular-transmission pathologies characterized by fatigable muscle weakness. Muscle-specific receptor tyrosine kinase MuSK plays key roles in NMJ formation. Over the past decade, studies examining the NMJ formation signals have identified molecules involved in the signaling pathways and have promoted a better understanding of characteristic molecular mechanisms for MuSK activation...
2018: Clinical Calcium
Ileana M Howard, Marla S Kaufman
Telehealth describes the provision of medical services remotely through technology, and may enhance patient access to specialty care services. Although teleneurology has expanded widely since the introduction of telestroke in 1999, telehealth services for outpatients with neuromuscular or musculoskeletal disorders are less widespread. In this narrative review, we will describe the current technology, applications, outcomes, and limitations of this dynamically growing field. Evidence for telehealth applications related to neuromuscular diseases, palliative care, specialized multidisciplinary services, and musculoskeletal care are reviewed...
March 6, 2018: Muscle & Nerve
Madeline Gaynor, Jamie Wood
In cystic fibrosis (CF), acute exacerbations can decrease the effectiveness of patients' usual airway clearance techniques (ACT). In order to maintain effective airway clearance and preserve lung function, these ACT must be adapted to prevent further dyspnoea and fatigue and improve ease of expectoration. Mechanical insufflation-exsufflation (MI-E) is widely used in neuromuscular disorders to facilitate airway clearance and augment cough but has rarely been used in CF despite potential indications. The NIPPY Clearway, an airway clearance device with multiple modes including MI-E, can be set to deliver multiple insufflations prior to a single exsufflation...
May 2018: Respirology Case Reports
Priyanka Tater, Sanjay Pandey
Botulinum toxin has gained immense popularity since its introduction for therapeutic use. It is used in a variety of movement disorders like hemi-facial spasm, focal dystonias like blepharospasm, cervical dystonia, oromandibular dystonia, limb dystonias. It is also being used in patients with tremors, tics and for a variety of indications in Parkinson's disease as well. There are eight subtypes of toxins available, but type A and B are the ones used in movement disorder clinics. The toxin mainly acts by inhibiting the release of acetylcholine at the neuromuscular junction and causing weakness...
March 2018: Neurology India
Yoyo T Y Cheng, William W N Tsang, Catherine Mary Schooling, Shirley S M Fong
Developmental coordination disorder (DCD) is a common motor disorder affecting balance performance. However, few studies have investigated reactive balance performance and the underlying mechanisms in children with DCD. This study aimed to compare the reactive balance performance, lower limb muscle reflex contraction latency and attention level in response to unpredictable balance perturbations between 100 typically developing children and 120 children with DCD (with and without comorbid autism spectrum disorder) aged 6-9 years...
March 1, 2018: Gait & Posture
Michelle Chatwin, Michel Toussaint, Miguel R Gonçalves, Nicole Sheers, Uwe Mellies, Jesus Gonzales-Bermejo, Jesus Sancho, Brigitte Fauroux, Tiina Andersen, Brit Hov, Malin Nygren-Bonnier, Matthieu Lacombe, Kurt Pernet, Mike Kampelmacher, Christian Devaux, Kathy Kinnett, Daniel Sheehan, Fabrizio Rao, Marcello Villanova, David Berlowitz, Brenda M Morrow
This is a unique state of the art review written by a group of 21 international recognized experts in the field that gathered during a meeting organized by the European Neuromuscular Centre (ENMC) in Naarden, March 2017. It systematically reports the entire evidence base for airway clearance techniques (ACTs) in both adults and children with neuromuscular disorders (NMD). We not only report randomised controlled trials, which in other systematic reviews conclude that there is a lack of evidence base to give an opinion, but also include case series and retrospective reviews of practice...
March 2018: Respiratory Medicine
Matthew P Abdel
Dislocation after revision total hip arthroplasty (THA) continues to be one of the most common and concerning complications after the procedure. As with every hip arthroplasty, it is essential to optimize component positioning, minimize impingement, and maintain the integrity of the abductor complex during the revision THAs. However, in several revision circumstances, additional strategies are required to mitigate the risk of dislocation, particularly those being revised for instability or those with cognitive or neuromuscular disorders...
February 27, 2018: Journal of Arthroplasty
Züleyha Bingöl, Hacer Durmuş Tekce, Gülseren Sağcan, Piraye Serdaroğlu, Esen Kıyan
PURPOSE: Pulmonary function abnormalities and sleep-related breathing disorders (SRBD) are frequent in subjects with several neuromuscular diseases but there is no data about lipid storage diseases (LSD). Therefore, we aimed to evaluate pulmonary functions and SRBD in adults with LSD. METHODS: Pulmonary functions (forced expiratory volume (FEV1 ), forced vital capacity (FVC), supine FVC, upright-supine FVC% change, maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP), peak cough flow (PCF)), arterial blood gases, and polysomnographic data of all subjects were evaluated...
March 1, 2018: Sleep & Breathing, Schlaf & Atmung
Md Suhail Alam, Bruce Cooper, Joseph D Farris, Kasturi Haldar
Histone deacetylase (HDAC) inhibitors are of significant interest as drugs. However, their use to treat neurological disorders has raised concern because HDACs are required for brain function. We have previously shown that a triple combination formulation (TCF) of the pan HDACi vorinostat (Vo), 2-hydroxypropyl-beta-cyclodextrin (HPBCD) and polyethylene glycol (PEG) 400 improves pharmacokinetic exposure and entry of Vo into the brain. TCF treatment significantly delayed both neurodegeneration and death in the Npc1nmf164 murine model of Niemann-Pick Type C (NPC) disease...
March 1, 2018: Scientific Reports
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