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https://www.readbyqxmd.com/read/29318413/evaluation-of-postoperative-fever-after-surgical-correction-of-neuromuscular-scoliosis-implication-on-management
#1
Mohamed Abdelhamid Ali Yousef, Scott Rosenfeld
BACKGROUND: Scoliosis is a common deformity in patients with neuromuscular disorders which usually necessitates surgical correction. Patients with neuromuscular scoliosis are characterized by increased incidence of associated medical co-morbidities and higher postoperative complication rate; therefore, these patients are often managed with a wide multidisciplinary care team. Postoperative fever is a frequent complication after surgery which is often routinely investigated using different workup tests to rule out infection...
January 9, 2018: European Spine Journal
https://www.readbyqxmd.com/read/29306600/a-missense-mutation-in-dync1h1-gene-causing-spinal-muscular-atrophy-lower-extremity-dominant
#2
Joyutpal Das, James B Lilleker, Kavaldeep Jabbal, John Ealing
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder, which causes progressive muscle weakness and in severe cases respiratory failure and death. Although the majority of the SMA cases are autosomal recessive, there is an autosomal dominant variant of SMA that primarily affects the lower extremities, known as 'spinal muscular atrophy - lower extremity, dominant' (SMALED). Mutations in the Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) gene were the first to be associated with SMALED. Here we report a family with SMALED caused by a pathogenic heterozygous missense c...
December 14, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29278898/diaphragm-pathophysiology-and-ultrasound-imaging-in-neuromuscular-disorders
#3
Abdallah Fayssoil, Anthony Behin, Adam Ogna, Dominique Mompoint, Helge Amthor, Bernard Clair, Pascal Laforet, Arnaud Mansart, Helene Prigent, David Orlikowski, Tanya Stojkovic, Stéphane Vinit, Robert Carlier, Bruno Eymard, Frederic Lofaso, Djillali Annane
Respiratory muscles are classically involved in neuromuscular disorders, leading to a restrictive respiratory pattern. The diaphragm is the main respiratory muscle involved during inspiration. Ultrasound imaging is a noninvasive, radiation-free, accurate and safe technique allowing assessment of diaphragm anatomy and function. The authors review the pathophysiology of diaphragm in neuromuscular disorders, the methodology and indications of diaphragm ultrasound imaging as well as possible pitfalls in the interpretation of results...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29211846/slc25a10-biallelic-mutations-in-intractable-epileptic-encephalopathy-with-complex-i-deficiency
#4
Giuseppe Punzi, Vito Porcelli, Matteo Ruggiu, Faruk Hossain, Alessio Menga, Pasquale Scarcia, Alessandra Castegna, Ruggiero Gorgoglione, Ciro L Pierri, Luna Laera, Francesco M Lasorsa, Eleonora Paradies, Isabella Pisano, Carlo M T Marobbio, Eleonora Lamantea, Daniele Ghezzi, Valeria Tiranti, Sergio Giannattasio, Maria A Donati, Renzo Guerrini, Luigi Palmieri, Ferdinando Palmieri, Anna De Grassi
Mitochondrial diseases are a plethora of inherited neuromuscular disorders sharing defects in mitochondrial respiration, but largely different from one another for genetic basis and pathogenic mechanism. Whole exome sequencing was performed in a familiar trio (trio-WES) with a child affected by severe epileptic encephalopathy associated to respiratory complex I deficiency and mitochondrial DNA depletion in skeletal muscle. By trio-WES we identified biallelic mutations in SLC25A10, a nuclear gene encoding a member of the mitochondrial carrier family...
December 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29210305/detection-of-early-nocturnal-hypoventilation-in-neuromuscular-disorders
#5
Federica Trucco, Marina Pedemonte, Chiara Fiorillo, Hui-Leng Tan, Annalisa Carlucci, Giacomo Brisca, Paola Tacchetti, Claudio Bruno, Carlo Minetti
Objective Nocturnal hypoventilation (NH) is a complication of respiratory involvement in neuromuscular disorders (NMD) that can evolve into symptomatic daytime hypercapnia if not treated proactively with non-invasive ventilation. This study aimed to assess whether NH can be detected in the absence of other signs of nocturnal altered gas exchange. Methods We performed nocturnal transcutaneous coupled (tc) pCO2/SpO2 monitoring in 46 consecutive cases of paediatric-onset NMD with a restrictive respiratory defect (forced vital capacity < 60%)...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/29199768/invasive-versus-non-invasive-ventilation-for-acute-respiratory-failure-in-neuromuscular-disease-and-chest-wall-disorders
#6
REVIEW
Fang Luo, Djillali Annane, David Orlikowski, Li He, Mi Yang, Muke Zhou, Guan J Liu
BACKGROUND: Acute respiratory failure is a common life-threatening complication of acute onset neuromuscular diseases, and may exacerbate chronic hypoventilation in patients with neuromuscular disease or chest wall disorders. Standard management includes oxygen supplementation, physiotherapy, cough assistance, and, whenever needed, antibiotics and intermittent positive pressure ventilation. Non-invasive mechanical ventilation (NIV) via nasal, buccal or full-face devices has become routine practice in many centres...
December 4, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29189528/incidence-and-diagnostic-evaluation-of-postoperative-fever-in-pediatric-patients-with-neuromuscular-disorders
#7
Mohamed A A Yousef, Darius Dranginis, Scott Rosenfeld
BACKGROUND: Children with neuromuscular disorders have a significant chance of developing scoliosis and/or hip dislocation during childhood and adolescence and often undergo surgical reconstruction. Because of their high rate of medical comorbidities, these patients are at higher risk of postoperative complications and are therefore often comanaged, along with orthopaedics, by pediatric medicine and critical care teams. Fever during the postoperative stay is a frequent occurrence and often prompts extensive diagnostic workup which increases the cost and burden on the health system but have unclear effects on the care of the patient...
November 16, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29187643/rescue-of-pompe-disease-in-mice-by-aav-mediated-liver-delivery-of-secretable-acid-%C3%AE-glucosidase
#8
Francesco Puzzo, Pasqualina Colella, Maria G Biferi, Deeksha Bali, Nicole K Paulk, Patrice Vidal, Fanny Collaud, Marcelo Simon-Sola, Severine Charles, Romain Hardet, Christian Leborgne, Amine Meliani, Mathilde Cohen-Tannoudji, Stephanie Astord, Bernard Gjata, Pauline Sellier, Laetitia van Wittenberghe, Alban Vignaud, Florence Boisgerault, Martine Barkats, Pascal Laforet, Mark A Kay, Dwight D Koeberl, Giuseppe Ronzitti, Federico Mingozzi
Glycogen storage disease type II or Pompe disease is a severe neuromuscular disorder caused by mutations in the lysosomal enzyme, acid α-glucosidase (GAA), which result in pathological accumulation of glycogen throughout the body. Enzyme replacement therapy is available for Pompe disease; however, it has limited efficacy, has high immunogenicity, and fails to correct pathological glycogen accumulation in nervous tissue and skeletal muscle. Using bioinformatics analysis and protein engineering, we developed transgenes encoding GAA that could be expressed and secreted by hepatocytes...
November 29, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/29174525/clinical-phenotypes-and-trajectories-of-disease-progression-in-type-1-spinal-muscular-atrophy
#9
Roberto De Sanctis, Marika Pane, Giorgia Coratti, Concetta Palermo, Daniela Leone, Maria Carmela Pera, Emanuela Abiusi, Stefania Fiori, Nicola Forcina, Lavinia Fanelli, Simona Lucibello, Elena S Mazzone, Francesco Danilo Tiziano, Eugenio Mercuri
The advent of clinical trials has highlighted the need for natural history studies reporting disease progression in type 1 spinal muscular atrophy. The aim of this study was to assess functional changes using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) scale in a cohort of type 1 infants. Nutritional and respiratory longitudinal data were also recorded. Patients were classified according to the severity of the phenotype and age of onset. SMN2 copies were also assessed...
October 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29174288/-update-on-the-respiratory-management-of-patients-with-chronic-neuromuscular-disease
#10
REVIEW
P Priou, W Trzepizur, N Meslier, F Gagnadoux
BACKGROUND: Neuromuscular diseases include a wide range of conditions that may involve potentially life-threatening respiratory complications (infection, respiratory failure). SURVEILLANCE AND PULMONARY FUNCTION TESTS: For patients with neuromuscular diseases, clinical assessment of respiratory function and regular pulmonary function tests are needed to screen for nocturnal respiratory disorders, weakness of the diaphragm and potential restrictive disorders and/or chronic hypercapnic respiratory insufficiency, possibly with couch deficiency...
November 21, 2017: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/29169929/compound-heterozygous-ryr1-mutations-in-a-preterm-with-arthrogryposis-multiplex-congenita-and-prenatal-cns-bleeding
#11
Florian Brackmann, Matthias Türk, Nils Gratzki, Oliver Rompel, Heinz Jungbluth, Rolf Schröder, Regina Trollmann
RYR1 mutations, the most common cause of non-dystrophic neuromuscular disorders, are associated with the malignant hyperthermia susceptibility (MHS) trait as well as congenital myopathies with widely variable clinical and histopathological manifestations. Recently, bleeding anomalies have been reported in association with certain RYR1 mutations. Here we report a preterm infant born at 32 weeks gestation with arthrogryposis multiplex congenita due to compound heterozygous, previously MHS-associated RYR1 mutations, with additional signs of prenatal hemorrhage...
September 28, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29157800/duchenne-muscular-dystrophy-with-platypnea-orthodeoxia-from-chilaiditi-syndrome
#12
Masashi Ogasawara, Akihiko Ishiyama, Akira Sugiura, Kazuhiko Segawa, Ikuya Nonaka, Eri Takeshita, Yuko Shimizu-Motohashi, Hirofumi Komaki, Masayuki Sasaki
INTRODUCTION: Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described resulting respiratory or digestive symptoms. CASE PRESENTATION: Our patient was a 20-year-old man with DMD who had been receiving noninvasive positive-pressure ventilation during the night...
November 17, 2017: Brain & Development
https://www.readbyqxmd.com/read/29157220/combined-effects-of-leaks-respiratory-system-properties-and-upper-airway-patency-on-the-performance-of-home-ventilators-a-bench-study
#13
Kaixian Zhu, Claudio Rabec, Jésus Gonzalez-Bermejo, Sébastien Hardy, Sami Aouf, Pierre Escourrou, Gabriel Roisman
BACKGROUND: Combined effects of leaks, mechanical property of respiratory system and upper airway (UA) patency on patient-ventilator synchrony (PVA) and the level of clinically "tolerable" leaks are not well established in home ventilators. METHODS: We comparatively assessed on a bench model, the highest leak level tolerated without inducing significant asynchrony ("critical leak") in three home ventilators (Astral 150, Trilogy 100 and Vivo 60; noted as A150, T100 and V60 respectively) subjected to three simulated diseased respiratory conditions: chronic obstructive pulmonary disease (COPD), obesity hypoventilation (OHS) and neuromuscular disorders (NMD), with both open and closed UA...
November 21, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29149851/identification-of-gaa-variants-through-whole-exome-sequencing-targeted-to-a-cohort-of-606-patients-with-unexplained-limb-girdle-muscle-weakness
#14
Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G MacArthur, Volker Straub
BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an inexpensive and readily accessible dried blood spot test when Pompe disease is suspected. Like several neuromuscular disorders, Pompe disease typically presents with progressive weakness of limb-girdle muscles and respiratory insufficiency...
November 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29142792/spinal-muscular-atrophy-the-treatment-approved
#15
Rabih Tabet, Sandy El Bitar, Julie Zaidan, Garbis Dabaghian
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder resulting in progressive muscle weakness and atrophy. It is universally fatal, especially if the respiratory muscles are involved leading to repetitive aspiration and respiratory failure. Historically, the treatment for this disease was only supportive. Herein we describe an adult patient who presented with worsening weakness and fatigue and was subsequently diagnosed with spinal muscular atrophy. Increased awareness of this condition and a new treatment modality is required...
September 2, 2017: Curēus
https://www.readbyqxmd.com/read/29067658/proteomic-profiling-of-the-dystrophin-deficient-brain
#16
Sandra Murphy, Kay Ohlendieck
Duchenne muscular dystrophy is a highly progressive neuromuscular disorder caused by primary abnormalities in the Dmd gene encoding the membrane cytoskeletal protein dystrophin. Dystrophinopathies are multi-systems disorders that are characterized by severe skeletal muscle wasting, with loss of independent ambulation in the early teenage years, followed by cardio-respiratory complications and premature death. Nonprogressive cognitive impairments are estimated to affect approximately one-third of dystrophic children...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28985942/effects-of-pyridostigmine-bromide-on-sh-sy5y-cells-an-in-vitro-neuroblastoma-neurotoxicity-model
#17
VerÔnica Farina Azzolin, Fernanda Barbisan, Luana Suéling Lenz, Cibele Ferreira Teixeira, Milena Fortuna, Thiago Duarte, Marta Maria Frescura Medeiros Duarte, Ivana Beatrice Mânica da Cruz
Pyridostigmine bromide (PB) is a reversible acetylcholinesterase (AChE) inhibitor and the first-choice for the treatment of symptoms associated with myasthenia gravis and other neuromuscular junction disorders. However, evidence suggested that PB could be associated with the Gulf War Illness characterised by the presence of fatigue, headaches, cognitive dysfunction, and musculoskeletal respiratory and gastrointestinal disturbances. Given that a potential neurotoxic effect of PB has not yet been completely elucidated, the present investigation used neural SH-SY5Y cells to evaluate the effect of PB on the cellular viability, cell apoptosis, modulation of the cell cycle, oxidative stress, and genotoxicity variables, which indicate neurodegeneration...
November 2017: Mutation Research
https://www.readbyqxmd.com/read/28971036/noninvasive-respiratory-management-of-patients-with-neuromuscular-disease
#18
REVIEW
John R Bach
This review article describes definitive noninvasive respiratory management of respiratory muscle dysfunction to eliminate need to resort to tracheotomy. In 2010 clinicians from 22 centers in 18 countries reported 1,623 spinal muscular atrophy type 1 (SMA1), Duchenne muscular dystrophy (DMD), and amyotrophic lateral sclerosis users of noninvasive ventilatory support (NVS) of whom 760 required it continuously (CNVS). The CNVS sustained their lives by over 3,000 patient-years without resort to indwelling tracheostomy tubes...
August 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28967584/telemedicine-for-facio-scapulo-humeral-muscular-dystrophy-a-multidisciplinary-approach-to-improve-quality-of-life-and-reduce-hospitalization-rate
#19
Simona Portaro, Rocco Salvatore Calabrò, Placido Bramanti, Giuseppe Silvestri, Michele Torrisi, Valeria Conti-Nibali, Santina Caliri, Christian Lunetta, Bernardo Alagna, Antonino Naro, Alessia Bramanti
BACKGROUND: Facio-Scapulo-Humeral Muscular Dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by a variable and asymmetric involvement of facial, trunk, upper and lower extremity muscles. Although respiratory weakness is a relatively unknown feature of FSHD, it is not rare. Telemedicine has been used in a variety of health care fields, but only recently, with the advent of sophisticated technology, its interest among health professionals became evident, even in such diseases...
September 21, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28962809/primary-acute-neuromuscular-respiratory-failure
#20
REVIEW
Sara Hocker
Neurologists are often called to evaluate patients with both defined and undiagnosed neuromuscular disorders when respiratory failure develops to determine if there is a neuromuscular cause. Being able to confidently diagnose neuromuscular respiratory failure and intervene appropriately is imperative, as early intervention and determination of the cause have survival implications. Outcomes are poor when the cause of neuromuscular weakness and resultant respiratory failure cannot be identified. This review discusses the clinical recognition of primary neuromuscular respiratory failure, its pathophysiology, diagnostic evaluation, and management, focusing on management of respiratory failure in the setting of Guillain-Barré syndrome and myasthenic crisis...
November 2017: Neurologic Clinics
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