Author archives: Alberto Alcantud
HNNE (Hammersmith).
https://www.mackeith.co.uk/es/hammersmith-neurological-examinations/hammersmith-neurological-examinations-subscriber-content/additional-languages/
Yale scale.
Yale Scale The Yale Scale is a tool used to evaluate the level of anxiety and stress in children and adolescents. This scale consists of questions that address different aspects of the patient's emotional state, such as fear of separation, fear of the dark, generalized anxiety, social anxiety, specific anxiety (such as phobia of heights or...
PedNIHSS
Neuroscience of neurodevelopment.
https://www.medrxiv.org/content/10.1101/2021.04.08.21255068v1.full https://cp.neurology.org/content/12/1/6 https://www.frontiersin.org/articles/10.3389/fncel.2019.00576/full https://www.science.org/doi/10.1126/science.abb2153 https://onlinelibrary.wiley.com/doi/full/10.1111/joa.13055 https://en.wikipedia.org/wiki/Radial_unit_hypothesis https://en.wikipedia.org/wiki/Protomap_(neuroscience)#cite_note-12
How to understand a report of sequencing.
Sequencing results reports are complex documents full of alphanumeric data that are difficult to understand without general bases to help us interpret them. We usually focus on the final conclusion, that is, the finding of a specific genetic variant and its interpretation of pathogenicity, is the most clinically relevant piece of information, but...
Continue reading «Cómo entender un informe de secuenciación.»
Disease linked to the X of special relevance neurogenetics.
Patrón de Herencia Ligada al X Recesiva La frecuencia de indivíduos enfermos es mucho mayor entre hombres que entre mujeres. Los hombres transmiten el alelo enfermo a todas sus hijas, pero todas las hijas serán sanas. Una portadora heterocigota transmitirá el alelo al 50% de sus hijos (que serán enfermos) así como al 50% de …
Continue reading «Enfermedades ligadas al X de especial relevancia neurogenética.»
Pseudogenes.
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...