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Neurology Collection

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7 papers 0 to 25 followers
By Ayat Al-Safar Senior Registerer General Paediatrics
https://www.readbyqxmd.com/read/26886206/clinical-features-pathogenesis-and-treatment-of-myasthenia-gravis-a-supplement-to-the-guidelines-of-the-german-neurological-society
#1
REVIEW
Nico Melzer, Tobias Ruck, Peter Fuhr, Ralf Gold, Reinhard Hohlfeld, Alexander Marx, Arthur Melms, Björn Tackenberg, Berthold Schalke, Christiane Schneider-Gold, Fritz Zimprich, Sven G Meuth, Heinz Wiendl
Myasthenia gravis (MG) is an autoimmune antibody-mediated disorder of neuromuscular synaptic transmission. The clinical hallmark of MG consists of fluctuating fatigability and weakness affecting ocular, bulbar and (proximal) limb skeletal muscle groups. MG may either occur as an autoimmune disease with distinct immunogenetic characteristics or as a paraneoplastic syndrome associated with tumors of the thymus. Impairment of central thymic and peripheral self-tolerance mechanisms in both cases is thought to favor an autoimmune CD4(+) T cell-mediated B cell activation and synthesis of pathogenic high-affinity autoantibodies of either the IgG1 and 3 or IgG4 subclass...
August 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27239312/neurocritical-care-update
#2
REVIEW
Yasuhiro Kuroda
This update comprises six important topics under neurocritical care that require reevaluation. For post-cardiac arrest brain injury, the evaluation of the injury and its corresponding therapy, including temperature modulation, is required. Analgosedation for target temperature management is an essential strategy to prevent shivering and minimizes endogenous stress induced by catecholamine surges. For severe traumatic brain injury, the diverse effects of therapeutic hypothermia depend on the complicated pathophysiology of the condition...
2016: Journal of Intensive Care
https://www.readbyqxmd.com/read/27524897/current-and-emerging-treatment-strategies-for-duchenne-muscular-dystrophy
#3
REVIEW
Jean K Mah
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in childhood. It is caused by mutations of the DMD gene, leading to progressive muscle weakness, loss of independent ambulation by early teens, and premature death due to cardiorespiratory complications. The diagnosis can usually be made after careful review of the history and examination of affected boys presenting with developmental delay, proximal weakness, and elevated serum creatine kinase, plus confirmation by muscle biopsy or genetic testing...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/26380568/treatment-of-generalized-convulsive-status-epilepticus-in-pediatric-patients
#4
REVIEW
Elizabeth L Alford, James W Wheless, Stephanie J Phelps
Generalized convulsive status epilepticus (GCSE) is one of the most common neurologic emergencies and can be associated with significant morbidity and mortality if not treated promptly and aggressively. Management of GCSE is staged and generally involves the use of life support measures, identification and management of underlying causes, and rapid initiation of anticonvulsants. The purpose of this article is to review and evaluate published reports regarding the treatment of impending, established, refractory, and super-refractory GCSE in pediatric patients...
July 2015: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
https://www.readbyqxmd.com/read/25890865/high-resolution-diffusion-tensor-imaging-and-tractography-in-joubert-syndrome-beyond-molar-tooth-sign
#5
Charlie Chia-Tsong Hsu, Gigi Nga Chi Kwan, Sandeep Bhuta
BACKGROUND: We undertook diffusion tensor imaging analysis of brainstem fiber tracts in two Joubert syndrome patients. METHODS: Two Joubert syndrome patients underwent magnetic resonance imaging brain examination with diffusion tensor imaging. Imaging findings were compared with five age- and sex-matched control subjects with approval from the institutional ethic committee. The medical history and clinical examination findings in both patients were documented. RESULTS: Diffusion tensor imaging analysis of the first patient demonstrated absence of the dorsal pontocerebellar tract and thinning of the middle cerebral peduncle...
July 2015: Pediatric Neurology
https://www.readbyqxmd.com/read/24456932/approach-to-the-diagnosis-of-congenital-myopathies
#6
Kathryn N North, Ching H Wang, Nigel Clarke, Heinz Jungbluth, Mariz Vainzof, James J Dowling, Kimberly Amburgey, Susana Quijano-Roy, Alan H Beggs, Caroline Sewry, Nigel G Laing, Carsten G Bönnemann
Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies. The International Standard of Care Committee for Congenital Myopathies performed a literature review and consulted a group of experts in the field to develop a summary of (1) the key features common to all forms of congenital myopathy and (2) the specific features that help to discriminate between the different genetic subtypes...
February 2014: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/25907848/teaching-reading-to-children-with-neurofibromatosis-type-1-a-clinical-trial-with-random-assignment-to-different-approaches
#7
RANDOMIZED CONTROLLED TRIAL
Laura A Barquero, Angela M Sefcik, Laurie E Cutting, Sheryl L Rimrodt
AIM: Neurofibromatosis type 1 (NF1) is a genetic disorder with a cognitive profile that includes visual-spatial perception deficits and a high incidence of reading disability. There is a paucity of information about how this cognitively complex population responds to mainstream reading interventions. The clinical trial goals were to determine whether children and adolescents with NF1 and reading deficits (NF+RD) benefit from mainstream remedial reading programs and whether responsiveness varies with differences in program-related visual-spatial demands...
December 2015: Developmental Medicine and Child Neurology
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