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neuromuscular respiratory disorders

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
Prabhjot K Bedi, Maria Luisa Castro-Codesal, Robin Featherstone, Mohammed M AlBalawi, Bashar Alkhaledi, Anita L Kozyrskyj, Carlos Flores-Mir, Joanna E MacLean
Background: The use of long-term non-invasive ventilation (NIV) to treat sleep and breathing disorders in children has increased substantially in the last decade; however, less data exist about its use in infants. Given that infants have distinct sleep and breathing patterns when compared to older children, the outcomes of infants on long-term NIV may differ as well. The aim of this study is to systematically review the use and outcomes of long-term NIV in infants. Methods: Ovid Medline, Ovid Embase, CINAHL (via EbscoHOST), PubMed, and Wiley Cochrane Library were systematically searched from January 1990 to July 2017...
2018: Frontiers in Pediatrics
Shu Zhang, Qian-Qian Mei, Jing Xin, Hong-Ying Zhang, Shi-Wen Wu, Chun-Feng Liu
OBJECTIVE: Progressive weakness of respiratory muscles remains one of the leading causes of death among patients with Duchenne muscular dystrophy (DMD). Currently, there are few pulmonary function data among Chinese DMD patients. This study was carried out to evaluate the sniff nasal inspiratory pressure (SNIP) change among a group of Chinese DMD patients, and compare it with the SNIP value of patients with neuromuscular disorders in other countries. METHODS: SNIP data were collected in three research groups that consists of 581 subjects: 125 DMD boys who have taken steroid (Age 5...
February 21, 2018: Brain & Development
Cathy Zhang, Michelle Ramsay, Panagis Drakatos, Joerg Steier
Background: Patients with neuromuscular disease (NMD) are at risk of developing sleep-disordered breathing (SDB) with hypercapnic respiratory failure. We hypothesised that a self-administered questionnaire (SiNQ-5 scores) may be useful to assess patients who are established on treatment for NMD with SDB. Methods: Patients attending a tertiary referral centre filled in the SiNQ-5 (range 0-10 points, lower scores indicating fewer symptoms). The questionnaire contains five questions related to breathlessness, sleep and posture...
January 2018: Journal of Thoracic Disease
Michel Toussaint, Michelle Chatwin, Jesus Gonzales, David J Berlowitz
No abstract text is available yet for this article.
March 2018: Neuromuscular Disorders: NMD
Léonore Schopfer, Lena Groenendijk, Jean-Paul Janssens, Alain Bigin Younossian, Laurence Vignaux
Non-invasive ventilation (NIV) is recognized as first line therapy in acute hypercapnic respiratory failure and chronic alveolar hypoventilation caused by several diseases (restrictive thoracic disorders, neuromuscular disease and obesity-hypoventilation syndrome). In Switzerland and other European countries, long-term NIV has also been applied in hypercapnic patients with chronic obstructive pulmonary disease (COPD). However, only recently has conclusive evidence showing benefits of long-term NIV become available...
January 31, 2018: Revue Médicale Suisse
C Chen, L T Tan, Z M Xu
Objectives: To provide the experience about the diagnostic process and following management, and to discuss the outcome and predictors in children with laryngeal cleft (LC). Methods: A retrospective case study was conducted at an academic children's hospital. Thirty children were diagnosed as laryngeal cleft between January 2016 and April 2017.Airway evaluations were performed using both flexible and rigid endoscopy, and swallowing evaluations were performed using fiberoptic endoscopic examination of swallowing or modified barium swallow...
January 7, 2018: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
Giorgio Tasca, Bjarne Udd
Phenotypic and genetic/allelic heterogeneity is a feature of many neuromuscular disorders, titinopathies being one of them. Hereditary Myopathy with Early Respiratory Failure (HMERF) has been considered an extremely rare disease with definite clinicopathologic hallmarks, and geographically restricted to the Northern European population with one single titin gene defect identified in previous years. The recent availability of massive parallel sequencing techniques, allowing the screening of all coding regions of the genome in undiagnosed patients, together with a growing awareness of the main muscle MRI features of the disease, has led to the discovery of a number of HMERF families and new titin mutations in the last five years...
December 12, 2017: Neuromuscular Disorders: NMD
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
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
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
Giuseppe Punzi, Vito Porcelli, Matteo Ruggiu, Md F 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 with 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...
February 1, 2018: Human Molecular Genetics
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%)...
March 2018: Journal of International Medical Research
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
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...
February 2018: Journal of Pediatric Orthopedics
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
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...
January 2018: Neuromuscular Disorders: NMD
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...
December 2017: Revue de Pneumologie Clinique
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...
January 2018: Neuromuscular Disorders: NMD
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
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