Vaccine-preventable diseases represent one of the main threats to children's health worldwide. Pathologies such as measles, polio, diphtheria, tetanus, whooping cough and hepatitis B can cause serious complications and even death in children, especially those under five years of age whose immune system is still…
Continue reading «Enfermedades prevenibles mediante la vacunación.»
Next-generation sequencing (NGS) studies present variable diagnostic yields depending on the clinical characteristics of the patient. Certain symptoms and phenotypic findings have been consistently associated with a higher likelihood of obtaining a definitive genetic diagnosis. These include intellectual disability, multiple congenital malformations, early-onset epilepsy, disorders...
Continue reading «Síntomas que incrementan la probabilidad de diagnóstico en NGS (yield).»
Among the multiple patterns that we can find in EEG waves, one of the most intriguing is wicked spikes. These peculiar formations are important when it comes to understanding brain functioning, but they can also lead to misinterpretation, particularly when they are confused with juxtaposed epileptiform activity. The wicked spikes, also known as…
Facial Phenotypes in Cornelia de Lange Syndrome (CdLS) Cornelia de Lange syndrome (CdLS) is associated with a characteristic facial dysmorphic pattern that facilitates its clinical diagnosis: Synophridia: Very well-defined eyebrows, arched and united in the midline, along with unusually long eyelashes. Nasal anomalies: Short nose with depressed nasal bridge,…
Distrofias Musculares Congénitas (DMC) Las distrofias musculares congénitas constituyen un grupo genéticamente heterogéneo de miopatías hereditarias caracterizadas por debilidad muscular progresiva y hallazgos distróficos en la biopsia muscular presentes desde el nacimiento o la primera infancia. Clasificación Principal Deficiencia de Merosina (LAMA2-RD): Causada por mutaciones en el gen LAMA2. Cursa con marcada hipotonía y retraso …
Conceptos de Conducción Nerviosa: Onda M, Onda H y Onda F En el estudio de electromiografía y velocidad de conducción nerviosa, estas tres ondas representan diferentes respuestas fisiológicas ante una estimulación eléctrica: Onda M: Es la respuesta motora directa obtenida por la estimulación del axón motor. Representa la despolarización ortodrómica directa de las fibras musculares. …
The Reiber Diagram is a graphic tool designed to analyze the behavior of immunoglobulins (IgG, IgA or IgM) in the cerebrospinal fluid (CSF) and distinguish whether their presence is due to intrathecal synthesis (within the central nervous system) or to a dysfunction of the blood-brain barrier. It was developed by Helmut Reiber and…
Resonancia Magnética (RM) en la Encefalopatía Hipoxicoisquémica (EHI) La resonancia magnética cerebral es el método de elección para valorar la localización, severidad y pronóstico del daño cerebral secundario a un evento de asfixia perinatal. Patrones Principales de Lesión Patrón de Ganglios Basales y Tálamo: Típico de asfixia aguda y profunda. Afecta al putamen, tálamo ventrolateral …
