Medicina
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Headache is the second most frequent cause of neurological consultations in the pediatric emergency department. Patients become frequent visitors per year due to headaches, evidence-based treatment should be used. ⋯ Strategies for a systematic approach in the evaluation of red flags, and recommendations for a rational use in neuroimaging studies are presented. Primary headaches are frequently seen in the emergency department. Migraine evidence-based treatment in the emergency department is reviewed.
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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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Idiopathic generalized epilepsies (IGE) is a group of epilepsies age-dependent, a subgroup of EGG genetic generalized epilepsies, with electro-clinical features and polygenic inheritance. Four syndromes comprising the IGEs: childhood absence epilepsy (CAD), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and generalized tonic-clonic seizures epilepsy. Clinically characterized by the presence of one or a combination of absence seizures, myoclonus, tonic-clonic, or myoclonictonic- clonic with common electroencephalographic patterns of 2.5-5.5 Hz generalized spike-wave and activated by hyperventilation or photic stimulation. ⋯ About 80% responding to broad-spectrum anti-seizure drugs such as valproic acid, may worsen with sodium or GABAergic blockers. Development is typically normal; however, they are frequently associated with mood disorders, attentiondeficit/ hyperactivity disorder (ADHD), and learning disabilities, but do not have cognitive deficits. The recognition of this group of EGI is important for the adequate use of the resources, avoiding unnecessary studies, adequate orientation of the prognosis and an optimal treatment.
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Rare diseases and undiagnosed diseases have recently positioned themselves as clinical entities that provide important opportunities to advance our understanding of gene functions and the impact of them in the individual development. In this review, we present how efforts made over years to understand common diseases, rare diseases and even undiagnosed diseases come together today to cooperatively advances scientific knowledge. These advance in science and new acquired knowledge, make possible to apply the advances obtained in a group of clinical conditions to others with similar phenotypic characteristics or vice versa. The cooperative work of multidisciplinary teams and the communication between clinicians and researchers have and will provide opportunities for better treatments for patients and families across multiple common and rare diseases.
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Seizures have a high incidence in the neonatal stage, being the main manifestation of neurological dysfunction. Certain physiological conditions of the neonatal brain facilitate its appearance. ⋯ Its timely recognition is very important for adequate treatment and thus avoid a negative impact on the long-term outcome. In the following review, we recapitulate the pathophysiology, causes, and classification of neonatal seizures, as well as their correct approach and the best therapeutic options for their treatment depending on the cause.