Handbook of clinical neurology
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One of the most exciting areas in epilepsy has been the explosion in our understanding of the genetics of the epilepsies over the last decade. Built on a long history of careful clinical genetic studies of the epilepsies, the relatively recent discovery of epilepsy genes has enabled insights into pathways causing seizure disorders. A variety of mutational mechanisms can cause epilepsy resulting from different, and sometimes surprising, molecular processes such as copy number variation within the genome. ⋯ The architecture of the common genetic epilepsies following complex inheritance, where multiple genes are involved, is also beginning to be unraveled. The clinical approach to understanding the genetics of the epilepsies has matured and requires a detailed family history of seizures together with delineation of the child's epilepsy syndrome. Recognition of specific genetic epilepsy syndromes enables optimal treatment and prognostic and genetic counseling.
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Neglected tropical diseases are a group of mostly infectious diseases that thrive among poor populations in tropical countries. A significant proportion of the conditions affecting the neurological system in such countries can be attributed to neglected tropical diseases of helminth, protozoan, bacterial, or viral origin. ⋯ In resource-poor settings it is likely that many infections will not be treated and will therefore progress into their advanced and severe stages, thus being increasingly associated with irreversible morbidity; this is also the case for neurological morbidity, which often entails permanent disability. Public health should aim at reducing the burden of tropical neurological diseases through interventions addressing the infection, the associated morbidity, and the disability deriving from it.
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Damage to the spinal cord disrupts autonomic pathways, perturbing cardiovascular homeostasis. Cardiovascular dysfunction increases with higher levels of injury and greater severity. Disordered blood pressure control after spinal cord injury (SCI) has significant ramifications as cord-injured people have an increased risk of developing heart disease and stroke; cardiovascular dysfunction is currently a leading cause of death among those with SCI. ⋯ This chapter reviews the human and animal studies that have furthered our understanding of the pathophysiology and mechanisms of orthostatic hypotension, autonomic dysreflexia and cardiac arrhythmias. The cardiovascular dysfunction that occurs during sexual function and exercise is elaborated. New awareness of cardiovascular dysfunction after SCI has led to progress toward inclusion of this important autonomic problem in the overall assessment of the neurological condition of cord-injured people.
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Treatment for PNES must be individualized. A combination of approaches is probably the most beneficial for improvement. Treatment should not simply emphasize removing maladaptive PNES behaviour, but should also focus on learning new coping skills and removing secondary gains. If PNES persist, therapy should be re-evaluated.
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Spinal cord injury (SCI) is a significant public problem, with recent data suggesting that over 1 million people in the U. S. A. alone are affected by paralysis resulting from SCI. ⋯ In this chapter we review the most recent data and salient literature regarding SCI and address current controversies, including the use of pharmacological adjuncts in the setting of acute SCI. We will also attempt to provide a reader with basic understanding of the classifications of SCI and spinal column injury. Finally, we review advances in spinal column stabilization including improvements in instrumented fusion and minimally invasive surgery.