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…
Category archives: Clinical guide
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.
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. The “phenotype first approach” focuses on the observation and study of the phenotypic characteristics of organisms…
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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
Protocols of the Spanish Society of Pediatric Neurology (SENEP) The clinical protocols developed by the SENEP constitute the national consensus guide for pediatricians and neuropediatricians in Spain. They address in a standardized manner the diagnosis, laboratory tests and treatment schemes for pathologies such as febrile seizures, status epilepticus, childhood headaches, sleep disorders...
Protocol SENEO 2023
Protocolos de la Sociedad Española de Neonatología (SENEO) 2023 Los protocolos de la 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. Destacan las directrices actualizadas de reanimación neonatal, control del dolor, nutrición enteral y parenteral, cribados metabólicos y …
Endocrinopathies and neurogenetic disorders.
Antiepileptic drugs.
The query neuropediatric.
Structuring of spaces. Exploration material. Essential bibliography for consultation.