BFMF PCI Fine Motor Scale The BFMF (Bimanual Fine Motor Function) is an instrument used to evaluate fine motor function in children with neurological disabilities. This scale allows a detailed evaluation of bimanual motor skills, which is crucial for the diagnosis and treatment of disorders such as Down syndrome,…
Author archives: Alberto Alcantud
SARA scale ataxias
Clinical exome, first tier?
Technological evolution in genomics has a very fast speed and clinical guidelines become obsolete with respect to usual clinical practice, so that professionals frequently find themselves with questions that are difficult to answer. Much has happened since the 2003 AAN guidelines, in which it was proposed as the first step...
Do animals have autism?
The diagnosis of autism is based on the presence of 2 dimensions of symptoms: Rómulo is the oldest male white rhinoceros (Ceratotherium simum) of the four specimens that lived in the park and the most endearing for Valencians, who have been able to see him first in Viveros and later in Bioparc. He was born in 1979 in England. …
ACMG pathogenicity criteria.
ACMG (American College of Medical Genetics and Genomics) Pathogenicity Criteria The criteria established by the ACMG and the AMP (Association for Molecular Pathology) guide the classification and clinical interpretation of genetic variants identified in molecular studies. These criteria are fundamental to ensure that treatment and follow-up decisions are based on…
Indication of cosegregation.
Carrying out cosegregation studies has 2 main uses: Example: Variant classified as probably pathogenic, which after applying the PS2 criterion is reclassified as pathogenic. Example 2: Probably pathogenic variant that is reclassified as pathogenic.
Situation analysis of referrals to SIFCO in the CV.
Centers, services and reference units of the SNS. https://www.sanidad.gob.es/profesionales/CentrosDeRereference/home.htm The project for the designation of Centers, Services and Reference Units (CSUR) of the National Health System (SNS) has as its objectives: In order to make effective the provisions of Law 16/2003, of May 28, on cohesion and quality of the National Health System, …
Continue reading «Análisis de situación de las remisiones a SIFCO en la CV.»
Supranuclear facial palsy.
Volitional and emotional facial palsy. The lesion responsible for the facial asymmetry at rest and weakness of voluntary facial movements in this woman was in the corticobulbar fibers of the internal capsule at the genu. In contrast, the lesion responsible for weakness of emotional movements in the man was in the contralateral thalamus. https://www.nejm.org/doi/full/10.1056/nejm199805213382105
Congenital (infantile/infant) nystagmus.
Neuropediatric action protocol for congenital infantile/infant nystagmus Congenital nystagmus is an involuntary movement of the eye that can be diagnosed in the first months of life. It is important to perform a complete and systematic evaluation to determine its cause and plan appropriate treatment. Diagnostic criteria Transfontanelar echoanalysis (in children under 6 months...
Continue reading «Nistagmo congénito (infantil/del lactante).»
Orphan Anesthesia
https://www.orphananesthesia.eu/en/rare-diseases/published-guidelines.html