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.
Category archives: Clinical guide
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
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...
PedCom
Calculadora PedCom La Calculadora PedCom es una herramienta práctica para el neuropediatra que permite evaluar y clasificar los síndromes de desarrollo infantil. Permite introducir datos clínicos específicos del paciente, como la edad, el nivel de consciencia, la capacidad motora y sensorial, entre otros. Los resultados proporcionan una clasificación del síndrome en función de un sistema …
Cephalometric and brachycephalic index calculator.
Cephalometric and Brachycephalic Index Calculator This bioinformatics tool allows you to quickly calculate the Cephalic/Cephalometric Index (CI) and the degree of brachycephaly or dolichocephaly from cranial anthropometric measurements (width and maximum length of the skull). Measurement Parameters and Clinical Utility Maximum Cranial Length (L): Anthropometric distance from the glabella…
Continue reading «Calculadora de índice cefalométrico y braquicefálico.»
Complex chronic patient.
Duane syndrome.
Síndrome de Duane El Síndrome de Duane es un trastorno ocular caracterizado por la dificultad en mover los ojos hacia el lateral. Este síndrome puede afectar a uno o ambos ojos. El video proporciona una explicación visual detallada del Síndrome de Duane, incluyendo los movimientos oculares involucrados y su impacto en la visión.