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Pediatric neuromuscular disease

Anna Marie Nathan, Hui Yan Loo, Jessie Anne de Bruyne, Kah Peng Eg, Sze Ying Kee, Surendran Thavagnanam, Marilyn Bouniu, Jiat Earn Wong, Chin Seng Gan, Lucy Chai See Lum
INTRODUCTION: Home ventilation (HV) for children is growing rapidly worldwide. The aim was to describe (1) the sociodemographic characteristics of children on HV and (2) the indications for, means and outcome of initiating HV in children from a developing country. METHODOLOGY: This retrospective study included patients sent home on noninvasive or invasive ventilation, over 13 years, by the pediatric respiratory unit in a single center. Children who declined treatment were excluded...
October 6, 2016: Pediatric Pulmonology
Justin C Paul, Baron S Lonner, Shaleen Vira, David Feldman, Thomas J Errico
STUDY DESIGN: Retrospective cohort study of spine fusion surgery utilizing the New York State Inpatient Database. OBJECTIVE: The objective was to determine whether there were differences in reoperation rates among pediatric scoliosis associated with various etiologies compared with idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: The incidence of postoperative complications and reoperations is known to vary among patients with diverse scoliosis pathologies...
September 3, 2016: Journal of Pediatric Orthopedics
Maya Kuperberg, Dorit Lev, Lubov Blumkin, Ayelet Zerem, Mira Ginsberg, Ilan Linder, Nirit Carmi, Sarah Kivity, Tally Lerman-Sagie, Esther Leshinsky-Silver
Whole exome sequencing enables scanning a large number of genes for relatively low costs. The authors investigate its use for previously undiagnosed pediatric neurological patients. This retrospective cohort study performed whole exome sequencing on 57 patients of "Magen" neurogenetic clinics, with unknown diagnoses despite previous workup. The authors report on clinical features, causative genes, and treatment modifications and provide an analysis of whole exome sequencing utility per primary clinical feature...
August 29, 2016: Journal of Child Neurology
Nesrin Sabha, Jonathan R Volpatti, Hernan Gonorazky, Aaron Reifler, Ann E Davidson, Xingli Li, Nadine M Eltayeb, Claudia Dall'Armi, Gilbert Di Paolo, Susan V Brooks, Ana Buj-Bello, Eva L Feldman, James J Dowling
Myotubular myopathy (MTM) is a devastating pediatric neuromuscular disorder of phosphoinositide (PIP) metabolism resulting from mutations of the PIP phosphatase MTM1 for which there are no treatments. We have previously shown phosphatidylinositol-3-phosphate (PI3P) accumulation in animal models of MTM. Here, we tested the hypothesis that lowering PI3P levels may prevent or reverse the MTM disease process. To test this, we targeted class II and III PI3 kinases (PI3Ks) in an MTM1-deficient mouse model. Muscle-specific ablation of Pik3c2b, but not Pik3c3, resulted in complete prevention of the MTM phenotype, and postsymptomatic targeting promoted a striking rescue of disease...
September 1, 2016: Journal of Clinical Investigation
Dani O Gonzalez, Justin B Mahida, Lindsey Asti, Erica J Ambeba, Brian Kenney, Lance Governale, Katherine J Deans, Peter C Minneci
BACKGROUND: Ventriculoperitoneal (VP) shunt placement, the mainstay of treatment for hydrocephalus, can place a substantial burden on patients and health care systems because of high complication and revision rates. We aimed to identify factors associated with 30-day VP shunt failure in children undergoing either initial placement or revision. METHODS: VP shunt placements performed on patients in the 2012-2013 American College of Surgeons National Surgical Quality Improvement Program (NSQIP) Pediatric were identified...
August 5, 2016: Pediatric Neurosurgery
Sigrid Pillen, Andrea Boon, Nens Van Alfen
Muscle ultrasound is an ideal imaging modality that allows for noninvasive, radiation-free point-of-care neuromuscular imaging. There are many potential applications of muscle ultrasound, including identification of abnormal muscle movements such as fasciculations, evaluation of muscle trauma, identification of physiologic parameters such as pennation angle, accurate performance of chemodenervation, and improved accuracy of challenging electrodiagnostic studies such as phrenic nerve conduction studies or needle electromyogram (EMG) of the diaphragm...
2016: Handbook of Clinical Neurology
Scott A McLeod, Wallace Wee, Francois D Jacob, Isabelle Chapados, Francois V Bolduc
Introduction. Acute complete external ophthalmoplegia is a rare finding in clinical practice that is associated with diseases affecting the neuromuscular junction, the oculomotor nerves, or the brainstem. Ophthalmoplegia has been reported with acute ataxia in Miller Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis (BBE). Up to 95% of these cases are associated with anti-GQ1b antibodies. Only a small number of cases of anti-GQ1b negative MFS have been documented in pediatric patients. This is the first case reporting a recurrence of ocular symptoms in an anti-GQ1b antibody negative patient with BBE...
2016: Case Reports in Neurological Medicine
Brandon A Sherrod, Dustin K Baker, Shawn R Gilbert
BACKGROUND: Perioperative bleeding requiring blood transfusion is a known complication of hip dysplasia (HD) surgery. Here we examine rates of, risk factors for, and postoperative complications associated with transfusion during HD surgery. METHODS: The National Surgical Quality Improvement Program (NSQIP) Pediatric database was queried for patients treated by an orthopaedist from 2012 to 2013. HD cases were categorized by Current Procedural Terminology codes into femoral osteotomies, acetabular osteotomies, combined femoral/acetabular osteotomies, and open reductions...
June 8, 2016: Journal of Pediatric Orthopedics
Özlem Özmete, Mesut Şener, Esra Çalışkan, Anış Arıboğan
Duchenne's muscular dystrophy (DMD) is a neuromuscular disease with a progressive course. It is the most common and most severe muscular dystrophic disorder for which the application of anesthesia is critical, due to muscle weakness, and cardiac and pulmonary involvement. Successful application of spinal anesthesia in a 2-year-old boy with DMD undergoing bilateral inguinal hernia repair is described in the present report. It is proposed that spinal anesthesia is an effective alternative to general anesthesia in certain pediatric patients, including those with DMD, for whom general anesthesia poses increased risk...
April 2016: Aǧrı: Ağrı (Algoloji) Derneği'nin Yayın Organıdır, the Journal of the Turkish Society of Algology
Milla-Riikka Hautakangas, Reetta Hinttala, Heikki Rantala, Pentti Nieminen, Johanna Uusimaa, Ilmo E Hassinen
Due to the relative rarity of mitochondrial diseases, generating reference ranges is problematic in evaluation of respiratory chain activities particularly in pediatric cases. We determined the sample distribution of respiratory chain enzyme activities in skeletal muscle biopsies collected from pediatric patients suspected of neuromuscular disorders. Activities of NADH-ubiquinone reductase, NADH-cytochrome c reductase, succinate-cytochrome c reductase; ubiquinol-cytochrome c reductase and cytochrome c oxidase activities have log-normal distributions even when confirmed mitochondrial diseases were ruled out...
July 2016: Mitochondrion
Kavelin Rumalla, Chester K Yarbrough, Andrew J Pugely, Linda Koester, Ian G Dorward
OBJECTIVE The objective of this study was to determine if the recent changes in technology, surgical techniques, and surgical literature have influenced practice trends in spinal fusion surgery for pediatric neuromuscular scoliosis (NMS). In this study the authors analyzed recent trends in the surgical management of NMS and investigated the effect of various patient and surgical factors on in-hospital complications, outcomes, and costs, using the Nationwide Inpatient Sample (NIS) database. METHODS The NIS was queried from 2002 to 2011 using International Classification of Diseases, Ninth Edition, Clinical Modification codes to identify pediatric cases (age < 18 years) of spinal fusion for NMS...
May 20, 2016: Journal of Neurosurgery. Spine
David J Birnkrant, Ozge Yilmaz, Thomas Nicolai, Jane B Black, Maroun J Mhanna, Terry L Noah
Our journal covers a broad range of research and scholarly topics related to children's respiratory disorders. For updated perspectives on the rapidly expanding knowledge in our field, we will summarize the past year's publications in our major topic areas, as well as selected publications in these areas from the core clinical journal literature outside our own pages. The current review (Part 3) covers articles on asthma, diagnostic testing/endoscopy, respiratory complications of neuromuscular disorders, and rare lung diseases...
July 2016: Pediatric Pulmonology
Nina L Beckwith, Daniel Ww Hong, Kelsey Y Ige, Keli Y Tahara, J Douglas Miles
No abstract text is available yet for this article.
April 2016: Hawai'i Journal of Medicine & Public Health: a Journal of Asia Pacific Medicine & Public Health
Yuko Shiima, Robert A Berg, Hillary R Bogner, Knashawn H Morales, Vinay M Nadkarni, Akira Nishisaki
OBJECTIVES: To determine the incidence and epidemiologic characteristics of cardiac arrests among tracheal intubations in PICUs. DESIGN: Retrospective cohort study of prospectively collected data. SETTING: Twenty-five diverse PICUs. PATIENTS: Critically ill children requiring tracheal intubation in PICUs. INTERVENTIONS: Tracheal intubation quality improvement data were prospectively collected for all initial tracheal intubations in 25 PICUs from July 2010 to March 2014 using National Emergency Airway Registry for Children registry...
September 2016: Critical Care Medicine
Eric Bauer, Justin B Mahida, Laura A Boomer, Jeffrey E Lutmer, Peter C Minneci, Katherine J Deans, Charles A Elmaraghy
OBJECTIVE: The purpose of this study is to determine whether the use of neuromuscular blockade agents (NMBAs) in pediatric patients following tracheostomy is associated with increased rates of complications or a prolonged length of stay. METHODS: This was a single-center retrospective chart review of pediatric patients undergoing tracheostomy placement between 2010 and 2013 who were admitted to the pediatric or neonatal intensive care units and did or did not receive NMBA within 7 days post-procedure...
May 2016: International Journal of Pediatric Otorhinolaryngology
N Beydon, G Aubertin
The prevalence of obstructive sleep apnea syndrome (OSAS) is 1-4 % in school-aged children. Adenotonsillar hypertrophy is the most common etiology of OSAS in children. Other causes are obesity; facial or skeletal malformations; and neuromuscular, respiratory, or metabolic diseases. OSAS has been associated with sleep quality disturbance (frequent arousals) and nocturnal gas exchange abnormalities (hypoxemia and sometimes hypercapnia), which can both result in negative health outcomes. The analysis of clinical symptoms and physical examination cannot always distinguish between children with primary snoring and children with OSAS...
April 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Laura Watne, Michele L Yang
OBJECTIVE: To assess the effect of nutritional interventions on growth and on respiratory status in patients with congenital myopathy (CM), congenital muscular dystrophy (CMD), and congenital myasthenic syndrome (CMS). METHODS: Retrospective cohort study based on case-note review of 18 patients affected by CM, CMD, and CMS, followed at a single pediatric neuromuscular center, between 2006 and 2014. RESULTS: Seventy-two percent of patients required placement of a gastrostomy tube for bulbar weakness or for growth failure...
2016: Journal of Pediatric Rehabilitation Medicine
Erik Landfeldt, Peter Lindgren, Christopher F Bell, Michela Guglieri, Volker Straub, Hanns Lochmüller, Katharine Bushby
Duchenne muscular dystrophy (DMD) is a rare pediatric neuromuscular disease associated with progressive muscle degeneration and extensive care needs. Our objective was to estimate the caregiver burden associated with DMD. We made cross-sectional assessments of caregiver health-related quality of life (HRQL) and burden using the EuroQol EQ-5D, a Visual Analogue Scale (VAS), the SF-12 Health Survey, and the Zarit Caregiver Burden Interview (ZBI) administered online. Results were stratified by disease stage (early/late ambulatory/non-ambulatory) and caregivers' rating of patients' health and mental status...
May 2016: Journal of Neurology
Marina Boido, Alessandro Vercelli
Spinal muscular atrophy (SMA) is a recessive autosomal neuromuscular disease, representing the most common fatal pediatric pathology. Even though, classically and in a simplistic way, it is categorized as a motor neuron (MN) disease, there is an increasing general consensus that its pathogenesis is more complex than expected. In particular, neuromuscular junctions (NMJs) are affected by dramatic alterations, including immaturity, denervation and neurofilament accumulation, associated to impaired synaptic functions: these abnormalities may in turn have a detrimental effect on MN survival...
2016: Frontiers in Neuroanatomy
Peter Schenk, Ernst Eber, Georg-Christian Funk, Wilfried Fritz, Sylvia Hartl, Peter Heininger, Eveline Kink, Gernot Kühteubl, Beatrice Oberwaldner, Ulrike Pachernigg, Andreas Pfleger, Petra Schandl, Ingrid Schmidt, Markus Stein
The current consensus report was compiled under the patronage of the Austrian Society of Pneumology (Österreichischen Gesellschaft für Pneumologie, ÖGP) with the intention of providing practical guidelines for out-of-hospital ventilation that are in accordance with specific Austrian framework parameters and legal foundations. The guidelines are oriented toward a 2004 consensus ÖGP recommendation concerning the setup of long-term ventilated patients and the 2010 German Respiratory Society S2 guidelines on noninvasive and invasive ventilation of chronic respiratory insufficiency, adapted to national experiences and updated according to recent literature...
February 2016: Wiener Klinische Wochenschrift
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