ABSTRACT
Hereditary muscular diseases are rare disorders, due to a genetic defect that causes an alteration in the structure or function of the muscle fibers. They may present at any stage of life and their definitive diagnosis usually requires muscle biopsy. While the most frequent hereditary myopathies have a relatively characteristic clinical presentation, there is a substantial part thereof in which the symptoms are non-specific and the definitive diagnosis may take a long time. Magnetic Resonance Imaging (MRI) has earned a place in the diagnostic process of this last group of myopathies, confirming the presence of muscle involvement and raising diagnostic approaches based on its distribution, information that guides the immunohistochemical and/or genetic study necessary for the definitive diagnosis. In this article we review the basic study protocols with MRI of the myopathies and their interpretation, also showing some cases of these diseases.
Las enfermedades musculares hereditarias son patologías raras, debidas a un defecto genético que causa una alteración en la estructura o funcionamiento de las fibras musculares. Pueden debutar en cualquier etapa de la vida y su diagnóstico definitivo suele requerir de biopsia muscular. Si bien las miopatías hereditarias más frecuentes tienen una presentación clínica relativamente característica, existe una parte importante de ellas en que los síntomas son poco específicos y su diagnóstico definitivo puede tomar largo tiempo. La Resonancia Magnética (RM) ha ganado un espacio en el proceso diagnóstico de este último grupo de miopatías, confirmando la presencia del compromiso muscular y planteando aproximaciones diagnósticas en base a su distribución, información que acota el estudio inmunohistoquímico y/o genético necesario para el diagnóstico definitivo.En el presente artículo revisaremos los protocolos de estudio básico con RM de las miopatías y su interpretación, mostrando también algunos casos de estas enfermedades.
Subject(s)
Humans , Child , Muscular Diseases/congenital , Muscular Diseases/diagnosis , Magnetic Resonance ImagingABSTRACT
Los trastornos del sueño en los niños son frecuentes, pueden afectar la conducta, aprendizaje, crecimiento del niño, ser causa de stress familiar y, si no se tratan, pueden persistir por largos periodos. Los problemas del sueño los podemos agrupar en tres categorías principales: falta de sueño (insomnio), exceso de sueño (hipersomnia) y alteración de la conducta durante el sueño (parasomnias). Las causas son múltiples pero la mayoría se debe a expectativas inapropiadas por parte de los padres, por falta de conocimiento y/o una mala higiene del sueño. El sueño, al igual que el comer, se aprende. El niño se adapta a su medio y éste, le crea el hábito. Luego, el tratamiento de los problemas de sueño en los niños comienza por la educación de los padres para que establezcan una buena higiene del sueño desde las etapas tempranas de la vida.
Sleep disorders in children are common they can harm a child's learning abilíty, its behaviour and even its physical development. They can be a cause of family stress and, if not treated, can persist for long periods of time. Sleepproblems can be grouped into three main categories: sleeplessness (insomnia), excessive sleepiness (hypersomnia) and episodic disturbance of sleep behaviour (parasomnias). The underlying causes are variable but are mainly due to inappropriate parental expectations due to their lack of information andlor to bad sleep hygiene. Sleeping, like eating, can be learned. Children will adapt to their environment and this, in turn, creates their habits. Thus, the treatment of sleep disorders in children starts by teaching the parents how to establísh a good sleep hygiene beginning at an early stage of the child's life.
Subject(s)
Humans , Adolescent , Child , Sleep Wake Disorders/physiopathology , Sleep Wake Disorders/therapy , Family Relations , Habits , Polysomnography , Sleep/physiology , Sleep/genetics , Sleep Wake Disorders/classificationABSTRACT
Las enfermedades neuromusculares (ENM) hereditarias son un conjunto de diversas patologías que debido a la identificación de nuevas proteínas y genes implicados en su etiopatogenia, constituyen entidades clínicas en constante evolución y expansión. Estos avances han permitido comprender mejor los mecanismos patológicos y han impulsado el desarrollo de nuevas técnicas diagnósticas y numerosas investigaciones centradas en tratamientos más específicos. Los clásicos límites entre unas y otras afecciones se han transformado en fronteras menos nítidas, al conocer que diversas manifestaciones fenotípicas pueden corresponder a la alteración de un mismo gen y a la inversa que un mismo síndrome puede ser originado por la alteración de diferentes genes. Este artículo describe las principales proteínas y genes relacionados con las ENM, su clasificación y los avances en el diagnóstico y tratamiento de algunas de las más representativas: la distrofia muscular de Duchenne, la atrofia muscular espinal y las laminopatías.
Extraordinary breakthroughs in the molecular pathogenesis of inherited neuromuscular diseases have resulted evolving genetic classification of neuromuscular disorders and the development of new diagnostic tools. This remarkable progress has introduced new genetic tests and has raised the real possibility of new and more specific therapeutics strategies for these conditions. This review focus on the different groups of proteins currently recognized as being involved in myopathies and muscular dystrophies and discuss some clinical and therapeutical aspect of the Duchenne muscular dystrophy, spinal muscular dystrophy and laminopathies as representatives models.
Subject(s)
Humans , Child , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/therapy , Neuromuscular Diseases/geneticsABSTRACT
Background: Tourette syndrome is a neuropsychiatric disorder characterized by motor and vocal tics, attentional deficit, poor control of impulses and obsessive compulsive disorder. Pharmacological treatment is often disappointing due to partial response and frequent poor tolerance to neuroleptic drugs which are otherwise the most effective therapy so far. Aim: To report a lasting improvement obtained with a new drug, aripiprazole that acts modulating both dopaminergic and serotoninergic neurotransmission. Material and methods: Ten patients refractory to their usual therapy, aged 10 to 35 years, were switched to aripiprazole in an open trial. Results: Nine of the 10 patients showed a significant response assessed by the Yale severity tics rating scale and the clinical global impression scale (p <0.01). No relevant adverse effects were observed. Conclusions: Aripiprazole may be a good pharmacological option for patients with Tourette syndrome.
Subject(s)
Adolescent , Adult , Child , Humans , Antipsychotic Agents/therapeutic use , Piperazines/therapeutic use , Quinolones/therapeutic use , Tourette Syndrome/drug therapy , Motor Activity/drug effects , Prospective Studies , Treatment OutcomeABSTRACT
Neurological abnormalities associated with spiculated, "acanthocytic" red cells in blood have been described as neuroacanthocytosis. This is a heterogeneous group of conditions that can be clearly subdivided on the basis of recent genetic findings. The McLeod Syndrome, one of the core neuroacanthocytosis syndromes, is a rare X-linked disorder caused by mutations of the XK gene, an X-chromosomal gene of unknown function characterized by haemopoietic abnormalities and late-onset neurological and muscular defects. We report two Chilean brothers with the McLeod phenotype who showed important psychiatric features. The diagnosis may be elusive if the presence of acanthocytosis is not properly studied. We describe a method which allowed the diagnosis that unmasked acanthocytosis. Otherwise the condition could have remained undiagnosed as it had been for decades in this family. This syndrome must be considered when assessing a familial movement disorder, specially affecting males with relevant psychiatric features. A reliable test for acanthocytosis assessment is available.