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Pediatric neuromuscular disease

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https://www.readbyqxmd.com/read/28175989/predictors-of-health-related-quality-of-life-in-boys-with-duchenne-muscular-dystrophy-from-six-european-countries
#1
Christiane Otto, Birgit F Steffensen, Ann-Lisbeth Højberg, Claus Barkmann, Jes Rahbek, Ulrike Ravens-Sieberer, Annette Mahoney, Julia Vry, Kathrin Gramsch, Rachel Thompson, Sunil Rodger, Kate Bushby, Hanns Lochmüller, Janbernd Kirschner
Duchenne muscular dystrophy (DMD) is a progressive, genetically determined neuromuscular disease that affects males and leads to severe physical disability in early teenage years. Over the last decades, patient-reported outcomes such as Health-Related Quality of Life (HRQoL) gained great interest in clinical research. However, little is known about factors affecting HRQoL in boys with DMD. Data from the multi-center CARE-NMD project of boys with DMD from six European countries collected between 2011 and 2012 were analyzed (8-17 years old; n = 321)...
February 7, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28123622/full-outline-of-unresponsiveness-score-and-the-glasgow-coma-scale-in-prediction-of-pediatric-coma
#2
Atahar Jamal, Naveen Sankhyan, Murlidharan Jayashree, Sunit Singhi, Pratibha Singhi
BACKGROUND: This study was done to compare the admission Full Outline of Unresponsiveness (FOUR) score and Glasgow Coma Scale (GCS) as predictors of outcome in children with impaired consciousness. METHODS: In this observational study, children (5-12 years) with impaired consciousness of <7 days were included. Children with traumatic brain injury, on sedatives or neuromuscular blockade; with pre-existing cerebral palsy, mental retardation, degenerative brain disease, vision/hearing impairment; and seizure within last 1 hour were excluded...
2017: World Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28109487/utility-of-polysomnography-in-determination-of-laryngomalacia-severity
#3
Jacqueline E Weinstein, Claire M Lawlor, Eric L Wu, Kimsey H Rodriguez
OBJECTIVE: To examine the efficacy of polysomnography in determining the severity of laryngomalacia in pediatric patients. METHODS: Prospective cohort study. Pediatric patients referred to our pediatric otolaryngology department with a polysomnogram already performed for a presumptive diagnosis of laryngomalacia were enrolled in the study. Patients with concurrent airway lesions or neuromuscular disorders were excluded. Patients underwent history, physical exam, and flexible fiberoptic laryngoscopy...
February 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28097856/-transition-experience-of-patients-with-neuromuscular-disease
#4
Valeria Greif, Florencia Ugo, M Fernanda de Castro Pérez, Julieta Mozzoni, Verónica Aguerre, Milagros Saldías, M Soledad Monges
Neuromuscular diseases are mostly genetic disorders, with chronic and progressive course. Affected people are at high risk of developing physical and emotional disabilities. In the last decades, the advance in technology and science has increased chronic pediatric patients survival rate, thus requiring an ongoing assistance in adult hospitals, making the transition a necessity and a challenge. This article reports the clinical practice designed between Hospital Garrahan and Hospital Ramos Mejía for the transition of 27 adolescents during 2015, setting achievements, findings and challenges resulting from this experience...
1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27989332/neuropathic-and-myopathic-pain
#5
REVIEW
Anthony C Rodrigues, Peter B Kang
The evaluation and management of childhood pain syndromes of neuromuscular origin have distinct challenges, as the patterns of disease presentation and the ability of a child to describe symptoms may differ from that of an adult. Advances in scientific and clinical knowledge are leading to significant progress in the care of affected children. The genetic origins of Fabry disease and the inherited form of erythromelalgia are better understood. The increasing interest in neuroimmunology among pediatric neurologists has led to more sophisticated diagnostic and therapeutic approaches...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27955984/lower-extremity-weakness-in-a-teenager-due-to-thyrotoxic-periodic-paralysis
#6
Matthew D Thornton
BACKGROUND: Thyrotoxic hypokalemic paralysis is the hallmark of thyrotoxic periodic paralysis (TPP). TPP is a potentially deadly complication of hyperthyroidism that occurs because of rapid and dramatic intracellular shift of potassium. This transference results in severe hypokalemia and clinically manifests itself as muscle weakness or paralysis. This condition predominantly affects males of Asian descent, and its presentation can range from mild to severe, as seen in our case. CASE REPORT: We present the case of a 15-year-old Asian-American male who presented to a tertiary-care pediatric emergency department complaining of generalized weakness and flaccid paralysis of his lower extremities...
December 9, 2016: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/27875025/adherence-and-barriers-to-hyperinsufflation-in-children-with-congenital-muscular-dystrophy
#7
John E Pascoe, Hemant Sawnani, Oscar H Mayer, Keith McConnell, Joseph M McDonough, Cynthia White, Anne M Rutkowski, Raouf S Amin, Avani C Modi
BACKGROUND: Congenital muscular dystrophy (CMD) is a rare, inherited neuromuscular disease characterized by progressive muscle weakness, thoracic insufficiency, and ultimately respiratory failure. Adherence to respiratory therapies in children with neuromuscular disorders is unknown. This study examined the multimodal assessment of adherence and barriers to 15 min, twice daily hyperinsufflation in children with CMD. Adherence was hypothesized to be greater than 50% and discomfort, embarrassment, and difficulty finding time were hypothesized to be barriers...
November 22, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27863630/comparison-of-treatment-outcomes-between-intracapsular-and-total-tonsillectomy-for-pediatric-obstructive-sleep-apnea
#8
David T Chang, Allison Zemek, Peter J Koltai
BACKGROUND: Intracapsular tonsillectomy (IT) has been advocated as a treatment for pediatric obstructive sleep apnea (OSA). However, evidence in the literature utilizing polysomnography (PSG) is limited. OBJECTIVE: To examine the experience at a tertiary children's hospital to evaluate the effectiveness and risks of intracapsular tonsillectomy compared to total tonsillectomy (TT) for treating pediatric OSA. METHODS: A retrospective study was undertaken of pediatric tonsillectomy cases performed for OSA at a tertiary children's hospital from 2005 to 2010...
December 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27859917/current-evidence-for-the-use-of-sugammadex-in-children
#9
REVIEW
Joseph D Tobias
Sugammadex is a novel pharmacologic agent, which reverses neuromuscular blockade with a mechanism that differs from the commonly used, acetylcholinesterase inhibitors. Although sugammadex has not received approval from the United States Food & Drug administration in children, its use has already been reported to reverse neuromuscular blockade in several clinical scenarios in the pediatric population including the 'cannot intubate-cannot ventilate' scenario. To date, there remains limited data from prospective trials in the pediatric-aged patient...
February 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27793469/challenges-in-pediatric-chronic-inflammatory-demyelinating-polyneuropathy
#10
Göknur Haliloğlu, Deniz Yüksel, Cağri Mesut Temoçin, Haluk Topaloğlu
Chronic inflammatory demyelinating neuropathy, a treatable immune-mediated disease of the peripheral nervous system is less common in childhood compared to adults. Despite different sets of diagnostic criteria, lack of a reliable biologic marker leads to challenges in diagnosis, follow-up and treatment. Our first aim was to review clinical presentation, course, response to treatment, and prognosis in our childhood patients. We also aimed to document diagnostic and therapeutic pitfalls and challenges at the bedside...
December 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27712049/thirteen-years-of-invasive-and-noninvasive-home-ventilation-for-children-in-a-developing-country-a-retrospective-study
#11
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
https://www.readbyqxmd.com/read/27603188/does-reoperation-risk-vary-for-different-types-of-pediatric-scoliosis
#12
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
https://www.readbyqxmd.com/read/27572814/utility-of-whole-exome-sequencing-for-genetic-diagnosis-of-previously-undiagnosed-pediatric-neurology-patients
#13
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
https://www.readbyqxmd.com/read/27548528/pik3c2b-inhibition-improves-function-and-prolongs-survival-in-myotubular-myopathy-animal-models
#14
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
https://www.readbyqxmd.com/read/27490129/predictors-of-ventriculoperitoneal-shunt-failure-in-children-undergoing-initial-placement-or-revision
#15
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...
2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27430445/muscle-ultrasound
#16
REVIEW
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
https://www.readbyqxmd.com/read/27293928/recurrent-diplopia-in-a-pediatric-patient-with-bickerstaff-brainstem-encephalitis
#17
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
https://www.readbyqxmd.com/read/27280901/blood-transfusion-incidence-risk-factors-and-associated-complications-in-surgical-treatment-of-hip-dysplasia
#18
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
https://www.readbyqxmd.com/read/27225742/-application-of-spinal-anesthesia-in-a-pediatric-patient-with-duchenne-s-muscular-dystrophy
#19
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
https://www.readbyqxmd.com/read/27223842/evaluating-clinical-mitochondrial-respiratory-chain-enzymes-from-biopsy-specimens-presenting-skewed-probability-distribution-of-activity-data
#20
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
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