Author archives: Alberto Alcantud
Health program for the late preterm (32-36 GW).
X-linked inheritance with female susceptibility.
In X-linked inheritance, it has classically been considered that the transmission pattern occurs from carrier females to affected males, and that therefore, a carrier female would have a 50% probability of conceiving affected males and a 50% probability of conceiving carrier females. However, this assumption is only met in …
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Neurodevelopmental assessment.
By neurodevelopment we mean the process of acquiring skills and abilities carried out by the central nervous system throughout childhood. It is a hierarchical, sequential and stereotyped process, genetically encoded but modulated by the environment. We can classify neurodevelopment into different domains, depending on the skills that are ...
Diseases do not diagnosticables by sequencing.
Limitations of exome sequencing:
Protocol for reevaluation and reclassification of variants of uncertain significance (VUS).
The results of a genetic study are not definitive, and in the case of variants of uncertain significance, it is necessary to continue investigations to clarify their meaning.
Syndromes of microdelección and microduplication.
On the Decipher website, an updated list of all microdeletion and microduplication syndromes can be consulted. More and more microduplication and microdeletion syndromes have been identified over the last few years, with the growing use of aCGH in research and clinical practice. They can be classified based on …
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Sleep development.
During the first years of life, there is a great variability in the normal dream, and produce very significant changes in the duration and distribution of the dream in a short time, which is why it is interesting to count with normogramas:
Gravity of the TEA.
Diagnostic criteria of ASD.
D. Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.