Medicina
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Premature births are an important health indicator for a country. These children have a higher risk of mortality and morbidity. The main brain injuries in preterm infants include white matter injuries, intracranial hemorrhages, and cerebellar injuries. ⋯ Perinatal brain injuries may have long-term consequences on the neurodevelopment of preterm infants, with an increased risk of cerebral palsy, cognitive, behavioral, sensory, and learning disorders, among others. It is key to implement prevention strategies and early intervention to reduce the negative consequences of brain injuries associated with prematurity. Key words: prematurity, periventricular leukomalacia, intracranial hemorrhage, neurodevelopmental disorders, cerebral palsy.
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It is not the intend of this article to present a detailed description of each developmental and epileptic encephalopathy, but to discuss recent changes in the terminology and diagnostic criteria of specific disorders, based on an updated review of the last 10 years. Important changes in the definitions of specific syndromes and new treatments that have shown efficacy in the management of seizures in these patients are analyzed. In conclusion: New gene modulation therapy will likely improve not only seizure frequency, but also cognitive outcome and therefore quality of life.
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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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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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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.