Medicina
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Neonatal epileptic syndromes are part of the genetic and metabolic epilepsies in this age group. Although they are not the most frequent cause of neonatal seizures, their early recognition allows for better diagnostic and therapeutic approaches. These syndromes can be classified into self-limited neonatal syndromes and early infantile epileptic and developmental encephalopathies (EIDEE). ⋯ However, the term benign should not be used as some may present recurrence of seizures, movement disorders, or learning disorders. In the case of EIDEE, seizures are usually refractory to treatment, affecting brain functions and neurodevelopment. In this review, our aim was to describe the electroclinical phenotype of neonatal epileptic syndromes, the most frequently involved genes and their clinical spectrum, their diagnostic approach, as well as the recommended treatments.
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Angelman syndrome is a severe neurodevelopmental disorder secondary to disruption of the UBE3A gene in the maternal allele of chromosome 15. Its manifestations are mainly neurological, but a multidisciplinary management is required for its treatment. ⋯ Current clinical trials with antisense oligonucleotides promise, for the first time, to treat the cause by activating the UBE3A gene in the paternal allele, showing encouraging preliminary clinical effects. Inoculation of UBE3A gene through a viral vector has been tested in animal models and is underway for future clinical trials.
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Venous thromboembolism disease (VTE) prevention strategy has to be constantly updated based on new evidence that is generated every year. Each institution must have a formal and active prevention policy against VTE and must develop guidelines or standards for thromboprophylaxis (TP) according to the local reality. During this process of adapting a guideline to the region and the generation of hospital recommendations, we must always consider the available local resources, the thromboembolic and hemorrhagic risk of the patients, even after discharge, and also their considerations and preferences. ⋯ Ideally, each center's own statistics should be available for decision-making. Extrapolating guidelines from developed countries could have a negative impact, if we ignore our hospital's reality. In this document we will find practical tools for health institutions that will allow them to prepare recommendations or guidelines for adequate VTE prophylaxis.
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Executive functions and Metacognition are integrated for the management of intellectual resources in close relation to intelligence its functioning and results; they are specially interesting for understanding the expression and development of high intellectual abilility (HIA). The aim of the study is to find out the relationship between executive functions (and components) and metacognition (and components) in schoolchildren with HIA. ⋯ We conclude and discuss the integrative model between executive function and metacognition and its mediating role as an endophenotype between genetic endowment and the expression of resource performance, suggesting the transfer of results to the education of high intellectual ability for the optimal and ethical expression of high potential.
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Tourette Disorder (TD) and attention deficit hyperactivity disorder (ADHD) are both major neuropsychiatric conditions that usually begin during infancy This revision aims to collaborate with pediatricians, who are often confronted with the question of co-morbidity or differential diagnosis between ADHD and TD. The question becomes urgent when the clinician must decide if he/she can start ADHD or TD treatment. ⋯ TD and ADHD must be intervened early, so we can get better outcomes. The consequences of letting the symptoms increase can generate sequels and handicaps, that can interfere with the quality of life and functionality not only during infancy and adolescence but also in adult life.