Track topics on Twitter Track topics that are important to you
Neurometabolic diseases that manifest seizures and epilepsy are a large group of inherited disorders. They can present at any age from the neonatal period to adolescence. The epileptic manifestations can be very varied and, in general, they are epilepsies refractory to antiepileptic drugs. Epileptic phenomenology does not contribute to the diagnosis. The inborn errors of metabolism that respond to the use of cofactors should be known. In acute decompensation, it is essential to provide nutritional, hydroelectrolytic and respiratory support. It is possible that in a few years we can detect the metabolomic profile of these diseases, thus knowing better the diagnosis non-invasively and offering greater therapeutic possibilities for their epilepsy and especially for the underlying disease. We must not forget the transitory metabolic disorders and the electrolyte imbalances within the causes of seizures, especially in the neonatal period, and must be identified and treated early to avoid major damages.
This article was published in the following journal.
Recycling of the spent LIBs to extract Li and Co not only offers raw materials for batteries but also lays a sustainable way for battery development. Herein, we adopt a route combining hydrometallurgi...
Lentinus crinitus is an important basidiomycete consumed by ethnic groups from the Amazon, commonly found in decomposing trees with high lignolytic and antioxidant activities. Lithium is a mood stabil...
Introducción: La relación del síndrome metabólico (SM) y sus componentes con la tasa de filtración glomerular y proteinuria aun no está ampliamente dilucidada. El objetivo del trabajo fue asocia...
Introducción: Aeromonas es una causa habitual de gastroenteritis pero ocasionalmente puede producir infecciones extraintestinales. La incidencia de bacteriemia por este género es muy baja y en gener...
The concept of epicondylitis refers tobthe manifestation of pain ni the area of insertation of the epicondilea muscles, and that it is accompained by limitation funcional. A tendinopaty si...
Biological markers of depressive states have been studied, but their usefulness to predict the therapeutic response is unknown. This issue is major in all depressive states which have not ...
An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
Epilepsy is defined as a disorder of brain function characterized by recurrent seizures that have a sudden onset. (Oxford Medical Dictionary). A seizure is caused by a sudden burst of excess electrical activity in the brain, causing a tempora...
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...
Asthma COPD Cystic Fibrosis Pneumonia Pulmonary Medicine Respiratory Respiratory tract infections (RTIs) are any infection of the sinuses, throat, airways or lungs. They're usually caused by viruses, but they can also ...