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. …
Author archives: Alberto Alcantud
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: Pathogenic: Overwhelming scientific evidence demonstrating that the variant causes the disease. Probably Pathogenic: High probability…
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. Based on the previous findings, assess the indication for neuroimaging testing. Red flag signs • Later onset nystagmus (in the absence of signs in keeping with an ocular disorder). • Constant oscillopsia in older children. • Dysconjugate/gaze evoked/seesaw/convergence-retraction nystagmus. • Horizontal nystagmus becoming vertical in vertical gaze. • Vertical …
Continue reading «Nistagmo congénito (infantil/del lactante).»
Orphan Anesthesia
https://www.orphananesthesia.eu/en/rare-diseases/published-guidelines.html
Infantile hemangioma.
Infantile Hemangioma Infantile hemangioma is the most common benign vascular tumor in pediatric age. It is typically not present at birth, but manifests in the first weeks of life as an erythematous macule that progresses to a bright red raised lesion. Clinical Phases Proliferative Phase: Rapid growth during the first 5...
