In our geographical area there are two minority populations that are of interest from a genetic point of view, mainly because they have historically practiced endogamy and show high consanguinity, and because they have experienced genetic bottlenecks that have given rise to the founder effect in some diseases.
Author archives: Alberto Alcantud
Genetic nomenclature
The nomenclature of genetic variants is standardized, and rules exist for its use. On the Varnomen website you can find the rules for using genetic nomenclature.
EEG interpretation protocol in pediatric epilepsy.
Treatable causes protocol.
In our geographical context, all newborns are offered the heel prick test or neonatal screening for congenital diseases, which currently in the Valencian Community includes 10 diseases. The clinical guideline for the diagnosis of global developmental delay and intellectual disability of the American Academy of Neurology …
NeNe Foundation
Scale of strength MRC.
Escala de fuerza MRC (Medical Research Council) La escala del Medical Research Council (MRC) es el sistema de referencia clínica para evaluar y graduar de forma manual la fuerza muscular en pacientes con sospecha de patología neuromuscular o debilidad motora. Se gradúa de 0 a 5 de la siguiente manera: Grado 0: No hay contracción …
Deformities of the skull.
For an adequate assessment of cranial deformities, it is necessary to take repeated measurements of cranial diameters (anteroposterior, biparietal, right oblique, and left oblique), in addition to head circumference. In postural plagiocephaly, the deformity tends to decrease over time. In craniosynostosis, the deformity tends to increase. Use of craniometer: Where to buy a craniometer: …
Cover-uncover test.
https://www.aafp.org/pubs/afp/issues/2013/0815/p241.html
Development of the drawing.
There are a set of drawing development stages that present stereotypically in all individuals, and are related to the neurodevelopmental process. There are several prerequisites for them to develop: Gross motor development. Fine motor development, and within this, the digital pincer grasp, and therefore …
Maturation of muscle tone.
https://publications.aap.org/neoreviews/article-abstract/4/8/e199/87007/Historical-PerspectivesNeurologic-Maturation-of?redirectedFrom=fulltext