Medicina
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Status epilepticus (SE) is the most frequent neurological emergency in neuropediatrics. It is the result of the failure of the mechanisms responsible for terminating an epileptic seizure or its onset, which leads to a prolonged epileptic seizure. The estimated incidence between 3-42 cases per 100,000 people per year. ⋯ The time (t1) is the moment when treatment should begin, which varies depending on the semiology, at 5 minutes for a generalized tonicclonic seizure and at 10 minutes for a focal seizure. The second time (t2) refers to neuronal damage. Prompt and effective treatment decreases the risks of cardiac and respiratory complications, admission to intensive care units, and death.
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Despite advances in the identification and recognition of risk factors for pediatric arterial ischemic stroke, little progress has been made in hyperacute treatment. The most frequent risk factors are arteriopathies, cardiopathies, and thrombophilia. ⋯ There is consensus on the use of anticoagulation in cardio-embolic and prothrombotic diseases, and antiplatelet therapy in arteriopathies. The future challenge is to improve coordination between prehospital services and specialized stroke centers to improve therapeutic management in the hyperacute stage and reduce morbidity and mortality.
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Epilepsy is a neurological disorder characterized by recurrent unprovoked seizures. It is known that genetics play an important etiology roll. During the last decades it has been possible to find specific genes involved in the pathogenesis of this condition. ⋯ Having a genetic diagnosis can help improve the quality of life of each patient and their family, while it helps us to individualize the treatment, making it more effective. Some examples in which genetic diagnosis can modify therapeutic conduct include the SCN1A gene, in which it is recommended not to use drugs that block Sodium channels, and the SLC2A1 gene, in which starting ketogenic diet is recommended. The future of precision medicine research in epilepsy is very promising, with the goal that each patient receives treatment according to their genetic etiology.
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Neonatal hypoxic ischemic encephalopathy (HIE) is a type of injury caused by lack of oxygen in the brain during the neonatal period. It is a clinical syndrome clearly recognizable in term and premature newborns secondary to asphyxia at the time of delivery. HIE is estimated to occur at a frequency of 1-3 for each 1000 alive newborns per year in developed countries. ⋯ The etiology is multifactorial and includes prenatal, perinatal and postnatal factors. The diagnosis is based in the inability to support spontaneous breath at the time of delivery requiring assisted ventilation, Apgar less than 5 at 5 and 10 minutes, altered level of consciousness, neonatal reflexes and muscle tone. This article is a review of the stablished and emergent therapeutic strategies based on the pathophysiological disease process.
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Autism is a neurodevelopmental disorder characterized by deficits in social cognition and communication, restricted interests, and stereotyped behaviors. Frequently associated with sensory dysfunction, other neurodevelopmental disorders, neuropsychiatric disorders, epilepsy and/or sleep disorders. This condition will accompany people throughout their lives, which will generate various support and treatment needs. ⋯ Buspirone has been used for restrictive behaviors and anxiety. There are drugs in the research phase such as oxytocin, vasopressin and even some developed for specific entities related to autism such as arbaclofen in Fragile X and Trofinetide that has just been approved for use in Rett syndrome. As specific entities and their pathophysiology are identified, it is likely that tailored treatments will be developed for each entity associated with autism..