Category archives: Clinical guide
Mitochondrial diseases.
Mitochondrial diseases are a group of genetic disorders that affect the mitochondria, the cellular structures responsible for producing energy in the form of ATP (adenosine triphosphate). These diseases are caused by mutations in mitochondrial DNA or in nuclear genes that encode proteins related to mitochondrial function. Because mitochondria are…
Family history.
The collection of family history is a part of the anamnesis in which the individual is questioned about the presence of certain diseases in their ascendants or descendants. It is advisable to create a complete family tree, and it should include the kinship relationships of the different individuals, their sex, age and those phenotypic characteristics...
Phenotype-first approach, and genotype-first approach.
Phenotype First Approach and Genotype First Approach The "phenotype first approach" and the "genotype first approach" are two different approaches used in genetics and biology to study the relationship between genes (genotype) and the observable characteristics (phenotype) of an organism. Phenotype First Approach The “phenotype first approach” focuses on the…
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Cognitive biases, assumptions and prejudices in neurogenetics.
Since the completion of the human genome project, we have experienced a scientific revolution in the field of applied genetics, which is changing the scientific knowledge of those disciplines that are closely related at an unprecedented speed. Pediatric neurology is one of the most affected by this genomic revolution, due to the overrepresentation...
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Coenzyme Q10 (Decorenone).
https://www.frontiersin.org/articles/10.3389/fnins.2023.1188839/full https://metabolicas.sjdhospitalbarcelona.org/ecm/defectos-sintesis-coenzima-q10/info/como-diagnostica-deficiencia-coenzima-q10 https://www.aeped.es/comite-medicamentos/pediamecum/coenzima-q10-ubidecarenona Indicaciones de tratamiento en neurología pediátrica:
Protocols SENEP
Protocolos de la Sociedad Española de Neurología Pediátrica (SENEP) Los protocolos clínicos desarrollados por la SENEP constituyen la guía de consenso nacional para pediatras y neuropediatras en España. Estos protocolos abordan de forma estandarizada el diagnóstico, pruebas de laboratorio y esquemas de tratamiento para diversas patologías neurológicas infantiles.
Protocol SENEO 2023
Protocolos de la Sociedad Española de Neonatología (SENEO) 2023 Los protocolos de la Sociedad Española de Neonatología (SENEO) en su actualización 2023 recogen las recomendaciones nacionales basadas en la evidencia sobre el cuidado clínico integral del recién nacido a término y pretérmino. Estos protocolos abordan diversas áreas importantes, incluyendo: Reanimación neonatal: Ofrece directrices actualizadas para …
