Disorders of vitamin B
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop in Atlas of Inherited Metabolic Diseases, 2020
The biologically active 2-methylpyridine derivatives collectively carry the generic name vitamin B 6 . In disorders involving the anchoring of glycosylphosphatidylinositol, alkaline phosphatase cannot be anchored resulting in hyperphosphatasia and vitamin B 6 responsive epilepsy. Treatable neonatal epilepsy, exemplified by pyridoxine dependent epilepsy and folinic acid responsive seizures, has engaged attention because of early onset seizures unresponsive to the usual anticonvulsant medication, but impressively responsive to pyridoxine or folinic acid (formyltetrahydrofolate) or both. Patients present usually in the first days of life with seizures. Status epilepticus occurred during pregnancy in a woman treated with pyridoxine-dependent epilepsy from early childhood, who had been seizure-free for 23 years with oral pyridoxine supplementation. Seizures were again unresponsive to antiepileptic medication but stopped with parenteral administration of vitamin B 6 . Successful treatment of pyridoxal-phosphate dependent epilepsy is achieved with doses of 10–80 mg Pyridoxal-5-phosphate per kilogram of body weight per day in four to five doses.
Biomarkers for Organophosphate Poisoning: Physiological and Pathological Responses
Brian J. Lukey, James A. Romano, Salem Harry in Chemical Warfare Agents, 2019
This chapter focuses on central nervous system (CNS) injury and its potential biomarkers, although research into biomarkers for non-CNS effects is warranted as well. It discusses the potential for the development of minimally invasive testing for the presence of biomarkers of traumatic brain injury and CNS damage. The chapter outlines the methodology of circulatory micro RNA disease biomarkers research and projected clinical application. It proposes that the detection of exhaled breath biomarkers in chemical warfare nerve agents/organophosphorus poisoning or epilepsy is feasible, because several important metabolic imbalances that produce breath-detectable volatile organic compounds take place in status epilepticus, such as fatty acid peroxidation due to oxidative stress, and imbalances in neurotransmitter and energy metabolism. Some biomarker strategies, which are under active research and in clinical use, have not been discussed due to limitations of space. The management of chemical warfare nerve agent casualties is determined by two important factors: the nature of injury and the scenario.
Epilepsy—Status Epilepticus (Children)
Charles Theisler in Adjuvant Medical Care, 2022
Status epilepticus (SE) is a single prolonged epileptic seizure, or crisis, lasting more than five minutes or two or more seizures within a five-minute period without the person returning to normal between them. Convulsive status epilepticus requires emergency medical treatment. Status epilepticus may be regarded as the most extreme form of epilepsy. It can cause permanent brain damage or death.
Autoimmunity and inflammation in status epilepticus: from concepts to therapies
Published in Expert Review of Neurotherapeutics, 2014
Franz Josef Holzer, Margitta Seeck, Christian M Korff
The understanding of immunological mechanisms underlying some forms of epilepsy and encephalitis has rapidly increased for the last 10 years leading to the concept of status epilepticus of autoimmune origin. Actual treatment recommendations regarding autoimmune status epilepticus are based on retrospective case studies, pathophysiological considerations and experts’ opinion. In addition, there are no clear indicators to predict outcome. In situations where autoimmune mechanisms are suspected in patients with status epilepticus, there is evidence that earlier treatment is related to better outcome. Increased awareness is mandatory to decrease the number of patients with major neurological problems or fatal outcome, which is overall about 50%. We here summarize findings of all pediatric and adult patients reported to date, and review the current state of knowledge in the field of immune therapeutic approaches of status epilepticus.
Combination drug therapy for the treatment of status epilepticus
Published in Expert Review of Neurotherapeutics, 2015
Xuefeng Wang, Jing Jin, Rong Chen
Status epilepticus (SE) is a common neurological emergent disease with high mortality and disability rates. Rapidly and effectively controlling seizures is key to saving the lives of patients and improving their prognoses. Traditional antiepileptic drugs for SE are ineffective in 30–40% of cases. In light of the diverse etiology and complex pathogenesis of SE, combination drug therapy for SE might be more conducive for the treatment of all patients because the combined use of drugs can produce synergistic effects via different mechanisms. This review summarizes combination drug therapies used for SE in animal experiments and clinical practice, the potential advantages of combination drug therapy and specific combination drug therapies using different antiepileptic drugs. The aim is to help researchers seek better treatments for early termination of SE.
Management of Refractory Status Epilepticus in an Actively Dying Patient
Published in Journal of Pain & Palliative Care Pharmacotherapy, 2014
Jennifer D. Dulin, Danielle M. Noreika, Patrick J. Coyne
No consensus guidelines exist for the treatment of refractory myoclonic status epilepticus or refractory myoclonus in the palliative care setting. Evidence-based guidelines for the general medical population are often neither practical nor applicable at the end of life. Many challenges, including medication availability, route of administration, monitoring, and work-up are all unique to the palliative care setting. Two patients with refractory myoclonus versus refractory myoclonic status epilepticus are described here, illustrating the challenges involved in treatment as well the need for further research for therapy in the palliative care setting.
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