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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The advances in the field of inborn errors of metabolism (IEM) are spectacular. New IEM have been described, their pathophysiological bases and implications for the organism are better known. With the advent of new metabolomics, lipidomics and genomics techniques, advances in diagnosis have multiplied and allow new therapeutic options to be explored. ⋯ Finally, new therapeutic options are emerging day to day that allow a longer survival and better quality of life. Conventional gene therapy is already being applied in some IEM. However, gene editing strategies with RNA therapies may allow the correction of the genetic mutation, minimizing the problems associated with conventional compensation gene therapy.
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Gene therapy has achieved significant advancements in the treatment of genetic diseases, especially in rare and monogenic diseases. Gene therapies have been developed and approved to treat diseases such as spinal muscular atrophy, offering hope to patients and demonstrating the effectiveness of this therapy. Currently, numerous clinical trials are being conducted to evaluate the safety and efficacy of gene therapy in various diseases, particularly in the field of pediatric neurology. ⋯ Regarding the future of gene therapy, advances in gene editing technology, such as CRISPR-Cas9, are expected to allow for greater precision and efficiency in gene modification. Research on gene therapy vectors is expected to enhance the delivery capacity and safety of treatments. New generations of viral and non-viral vectors are being developed that could overcome current limitations and enable more efficient and precise administration of therapeutic genes.
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Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder of biological origin with a 70 to 80% genetic basis, which affects 5% of children and adolescents and 2.5% of adults, whose main symptoms are inattention, hyperactivity, and impulsivity. For many years it was thought that it only affected children; currently in the DSM 5 it is accepted that it can be diagnosed in adolescents and adults. Treatment must be individualized, the main objectives are to improve the core symptoms of people with ADHD, and their quality of life. ⋯ Medications are classified as stimulants and nonstimulants, with stimulants such as methylphenidate, lisdexamfetamine, and dexamphetamine being the first line. Non-stimulants include guanfacine and atomoxetine. Treatment is essential because it improves the quality of life of the person at the family, educational, work, and social levels.
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Self-limited Focal Epilepsies of Childhood (SELFEs) are the most prevalent electroclinical syndromes in pediatric age, whose typical evolution, with age-dependent onset and remission, has allowed the ILAE Nosology and Definitions Working Group (2022) to define them as "Selflimited Focal Epilepsies of Childhood", thus establishing alert and exclusion criteria to standardize their diagnosis. These syndromes include: Self-limited Epilepsy with Centrotemporal Spikes (previously Rolandic Epilepsy), Self-limited Epilepsy with Autonomic Seizures (previously Panayiotopoulos Syndrome), Childhood Occipital Visual Epilepsy, (previously Gastaut Syndrome), and Photosensitive Occipital Lobe Epilepsy. Using the term "benign" to refer to them is no longer recommended, as this would ignore the comorbidities some individuals suffer. Also, the term "idiopathic" is now only used to refer to the syndromes classified as Idiopathic Generalized Epilepsies.