When to suspect a genetic disease?
Author archives: Alberto Alcantud
Equipment-specific intervention in childhood and adolescence (EIIA)
https://inclusio.gva.es/es/web/menor/servicios-especializados-de-atencion-a-familias-con-menores-en-situacion-de-riesgo-y-con-medidas-juridicas-de-proteccion455
Pediatric CNS tumors.
Pediatric Central Nervous System (CNS) Tumors CNS tumors represent the most common solid tumors in childhood and the second overall cause of childhood cancer after leukemias. They are predominantly located in the posterior fossa (infratentorial) unlike adults. Common Histological Types Pilocytic Astrocytoma: WHO Grade I,…
Exploration neurocutaneous.
PATI (personal Assistant).
https://inclusio.gva.es/es/web/dependencia/asistente-personal
Internet secure for kids.
IS4K is a website with resources for training parents and children in the proper use of new technologies, as well as the tools available for the protection of minors.
Developmental trajectory and stages of Rett syndrome.
Rett syndrome, a neurodevelopmental disorder linked to the X chromosome (MECP2 gene), typically progresses through four defined clinical stages that mark its developmental trajectory:
Developmental trajectory of MLD (metachromatic leukodystrophy).
Metachromatic Leukodystrophy (MLD): Developmental Trajectories Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease characterized by deficiency of the enzyme arylsulfatase A (ARSA), causing the accumulation of sulfatides and progressive demyelination of the central and peripheral nervous system. Clinical Forms and Late Childhood Trajectory (typical): It manifests between the first…
Continue reading «Trayectoria de desarrollo de la MLD (leucodistrofia metacromática).»
CLN development trajectories.
Neuronal Ceroid Lipofuscinosis (CLN): Developmental Trajectories Ceroid neuronal lipofuscinosis (CLN), commonly called Batten disease, group together a set of rare lysosomal-based neurodegenerative disorders characterized by the intralysosomal accumulation of fluorescent ceroid lipofuscin material. Common Path of Symptoms Progressive and rapid loss of visual acuity leading to blindness (to...
