States and Health Systems The term 'State' in the context of health can refer to various aspects, from health care systems to the socioeconomic conditions that affect the health of a population. In this clinical guide, we will explore how to evaluate and improve health systems using an evidence-based approach. …
Category archives: Clinical guide
Diseases preventable by vaccination.
Enfermedades prevenibles mediante la vacunación Las enfermedades inmunoprevenibles representan una de las principales amenazas para la salud infantil a nivel mundial. Patologías como el sarampión, la poliomielitis, la difteria, el tétanos, la tos ferina y la hepatitis B pueden causar complicaciones graves e incluso la muerte en los niños, especialmente en aquellos menores de cinco …
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Symptoms that increase the probability of diagnosis in NGS (yield).
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...
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Tasks to explore movement disorders.
Misinterpretation of wicket spikes.
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…
ARX gen.
CdL facial phenotypes.
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,…
Congenital muscular dystrophies.
Congenital Muscular Dystrophies (CMD) Congenital muscular dystrophies constitute a genetically heterogeneous group of hereditary myopathies characterized by progressive muscle weakness and dystrophic findings in muscle biopsy present from birth or early childhood. Main Classification Merosin Deficiency (LAMA2-RD): Caused by mutations in the LAMA2 gene. It presents with marked hypotonia and delay…
M-wave, H-wave, F-wave.
Concepts of Nerve Conduction: M Wave, H Wave and F Wave In the study of electromyography (EMG) and nerve conduction velocity, these three waves represent different physiological responses to electrical stimulation: M Wave: It is the direct motor response obtained by stimulation of the motor axon. It represents the direct orthodromic depolarization of the fibers...
Reiber diagram
Reiber Diagram 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…