Results 61 to 70 of about 19,908 (254)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Refractory Status Epilepticus in Children; Risk Factors, Management and Early Outcome

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2008
Introduction: Refractory status epilepticus is a life-threatening disease in children wherein seizure movements don't response to first line anti convulsion drugs. This study reviewed risk factors, management and early outcome of children with refractory
AH Jafari Roohi, M Barzegar
doaj  

Super-Refractory Status Epilepticus: A Therapeutic Challenge in Paediatrics [PDF]

Journal of Clinical and Diagnostic Research, 2017
A status epilepticus which persists for 24 hours or more after starting treatment with anaesthesia or has recurred inspite of general anaesthesia is known as Super-Refractory Status Epilepticus (SRSE).
SHRIKIRAN AROOR, KANAPARTHI SHRAVAN, SUNEEL C MUNDKUR, C JAYAKRISHNAN, SAI SRIPAD RAO   +4 more
doaj   +1 more source

Evaluation of a clinical tool for early etiology identification in status epilepticus. [PDF]

, 2014
OBJECTIVES: Because early etiologic identification is critical to select appropriate specific status epilepticus (SE) management, we aim to validate a clinical tool we developed that uses history and readily available investigations to guide prompt ...
Alvarez, V., Curley, D., Drislane, F.W., Dworetzky, B.A., Lee, J.W., Rossetti, A.O., Westover, M.B.   +6 more
core   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Management and prognosis of status epilepticus according to hospital setting: a prospective study. [PDF]

, 2009
BACKGROUND: The treatment of status epilepticus (SE) is based on relatively little evidence although several guidelines have been published. A recent study reported a worse SE prognosis in a large urban setting as compared to a peripheral hospital ...
Burnand, B., Foletti, G.B., Hayoz, D., Logroscino, G., Novy, J., Olivier, P., Rossetti, A.O., Ruffieux, C.   +7 more
core   +1 more source

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

Advanced Science, EarlyView.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak, David Okoh, William Scotton, Shanika Samarasekera, Vikram Patil, Suresh Renukappa, Andrew Macduff, Subashini Suresh, Rajeev Krishnadas, Tonny Veenith   +9 more
wiley   +1 more source

Treatment of Status Epilepticus [PDF]

Journal of Neurocritical Care, 2016
Status epilepticus is a severe neurological disease associated with substantial mortality and health-care cost. Treatment of status epilepticus should proceed without delay even in the pre-hospital setting because prolonged generalized convulsive ...
Gha-Hyun Lee, Dae Soo Jung
doaj   +1 more source

Intravenous ganaxolone in pediatric super-refractory status epilepticus: A single hospital experience

Epilepsy & Behavior Reports, 2022
Synaptic GABAA receptor (GABAAR) internalization contributes to the drug resistant nature of super-refractory status epilepticus (SRSE). Ganaxolone is a 3β-methylated synthetic analog of the endogenous neuroactive steroid, allopregnanolone, that has ...
Rani K. Singh, Rajdeep Singh, Alejandra Stewart, Katherine Van Poppel, Sarah Klinger, Joseph Hulihan, Heather Van Heusen, Henrikas Vaitkevicius, Maciej Gasior   +8 more
doaj   +1 more source

Treatment Options in the Management of Status Epilepticus [PDF]

, 2018
Opinion statement: Status epilepticus treatment involves the use of several pharmacologic compounds, which are conceptually divided into three successive and additional lines of action.
Rossetti, Andrea
core