ABSTRACT
TITLE: Encefalopatia epileptica de inicio precoz en un paciente con mutacion en SCN8A.
Subject(s)
Drug Resistant Epilepsy/genetics , NAV1.6 Voltage-Gated Sodium Channel/genetics , Age of Onset , Amino Acid Substitution , Anticonvulsants/therapeutic use , Child, Preschool , Drug Resistant Epilepsy/drug therapy , Drug Substitution , Electroencephalography , Heterozygote , Humans , Intellectual Disability/genetics , Isoxazoles/therapeutic use , Male , Mutation, Missense , Phenytoin/therapeutic use , Point Mutation , ZonisamideABSTRACT
No disponible
Subject(s)
Female , Humans , Male , Neurology/education , Neurology/ethics , Emergency Medical Services , Emergency Medical Services/methods , Patient Care/classification , Patient Care/methods , Neurology , Neurology/methods , Emergency Medical Services/standards , Emergency Medical Services , Patient Care/psychology , Patient Care/standards , Spain/ethnologyABSTRACT
No disponible
Subject(s)
Humans , Female , Aged , Miller Fisher Syndrome/diagnosis , Ophthalmoplegia/diagnosis , Guillain-Barre Syndrome/diagnosis , AutoimmunityABSTRACT
No disponible
Subject(s)
Humans , Female , Middle Aged , Anticonvulsants/therapeutic use , Epilepsy/drug therapy , Migraine without Aura/complications , Drug ResistanceABSTRACT
INTRODUCTION: Of approximately 200 peptides that are known to exist in the body, 80 carry out functions as neurotransmitters and about 20 have been linked to Alzheimer's disease (AD). DEVELOPMENT: In this article we review the most salient studies that have been conducted on neuropeptides such as corticotropin-releasing hormone, thyrotropin-releasing hormone, somatostatin, neuropeptide Y, oxytocin, arginine vasopressin, galanin and insulin, as well as the insulin-like growth factors, the glucagon-like peptides, vasoactive intestinal peptide, cholecystokinin, substance P, opioid peptides and the neuropeptide NAP. Although attempts are made to find a causal association with AD, in many cases the findings are contradictory or not very conclusive. CONCLUSIONS: The most notable points could be the reduction in substance P in the cerebral cortex, hippocampus, basal ganglia and cephalospinal fluid; the diminished levels of somatostatin in the same structures except for the basal ganglia; the reduction in the amount of vasopressin except in the temporal lobe; and the increased levels of dynorphin and leucine enkephalin.
Subject(s)
Alzheimer Disease , Neuropeptides/metabolism , Alzheimer Disease/metabolism , Alzheimer Disease/physiopathology , Corticotropin-Releasing Hormone/metabolism , Gastrointestinal Hormones/metabolism , Humans , Neuropeptide Y/metabolism , Opioid Peptides/metabolism , Oxytocin/metabolism , Somatostatin/metabolism , Thyrotropin-Releasing Hormone/metabolismABSTRACT
Introducción. De los aproximadamente 200 péptidos que se sabe que existen en el organismo, 80 realizan funciones neurotransmisoras y unos 20 se han relacionado con la enfermedad de Alzheimer (EA). Desarrollo. En este artículo elaboramos una revisión de los principales estudios que se han realizado con neuropéptidos, tales como la hormona liberadora de corticotropina, la hormona liberadora de tirotropina, la somatostatina, el neuropéptido Y, la oxitocina, la arginina-vasopresina, la galanina, la insulina y los factores de crecimiento similares a insulina, los péptidos similares a glucagón, el péptido intestinal vasoactivo, la colecistoquinina, la sustancia P, los péptidos opiodes y el neuropéptido NAP. Aunque intentamos encontrar una asociación causal con la EA, hallamos en muchos casos resultados contradictorios o poco concluyentes. Conclusión. Lo más destacable podría ser la disminución de la sustancia P en corteza cerebral, hipocampo, ganglios basales y líquido cefalorraquídeo, la somatostatina disminuida en las mismas estructuras salvo en ganglios basales, la disminución de vasopresina salvo en el lóbulo temporal y el aumento en la corteza cerebral de la dinorfina y la leucoencefalina (AU)
Introduction. Of approximately 200 peptides that are known to exist in the body, 80 carry out functions as neurotransmitters and about 20 have been linked to Alzheimers disease (AD). Development. In this article we review the most salient studies that have been conducted on neuropeptides such as corticotropin-releasing hormone, thyrotropin-releasing hormone, somatostatin, neuropeptide Y, oxytocin, arginine vasopressin, galanin and insulin, as well as the insulin-like growth factors, the glucagon-like peptides, vasoactive intestinal peptide, cholecystokinin, substance P, opioid peptides and the neuropeptide NAP. Although attempts are made to find a causal association with AD, in many cases the findings are contradictory or not very conclusive. Conclusions. The most notable points could be the reduction in substance P in the cerebral cortex, hippocampus, basal ganglia and cephalospinal fluid; the diminished levels of somatostatin in the same structures except for the basal ganglia; the reduction in the amount of vasopressin except in the temporal lobe; and the increased levels of dynorphin and leucine enkephalin (AU)
Subject(s)
Humans , Alzheimer Disease/physiopathology , Neurotransmitter Agents/pharmacokinetics , Neuropeptides/physiology , Growth SubstancesABSTRACT
INTRODUCTION: The damage caused to the central nervous system by lightning can be immediate or delayed. Cerebrovascular accidents are usually an infrequent complication of lightning strikes. CASE REPORT: We report the case of a patient who was hit by lightning and then developed an acute bilateral intraparenchymatous haemorrhage in the basal ganglia and the left internal capsule. DISCUSSION: Few cases of intracranial haemorrhages secondary to lightning strikes have been reported. We carry out a review and analysis of the literature currently available on the subject. A number of theories have been put forward that attempt to explain the mechanism behind these haemorrhages in patients who have been hit by lightning. The reason why there is a predilection for the basal ganglia is unknown, although it could be linked to the particular features of the vascularisation of the area.
Subject(s)
Intracranial Hemorrhages/etiology , Lightning Injuries/complications , Basal Ganglia/pathology , Humans , Intracranial Hemorrhages/pathology , Lightning Injuries/pathology , Male , Middle Aged , Trauma, Nervous System/etiology , Trauma, Nervous System/pathologyABSTRACT
Introducción. El daño que se produce en el sistema nervioso central por el rayo puede ser inmediato o retardado. Los accidentes cerebrovasculares suelen ser una complicación infrecuente en la fulguración. Caso clínico. Presentamos el caso de un paciente alcanzado por un rayo que desarrolló de forma aguda una hemorragia intraparenquimatosa bilateral en los ganglios basales y la cápsula interna izquierda. Discusión. Se han descrito pocos casos de hemorragias intracraneales secundarias a impacto por rayo. Realizamos una revisión y análisis de la literatura existente al respecto. Se han propuesto diversas teorías que intentan explicar el mecanismo por el cual se producen estas hemorragias en pacientes con fulguración. El motivo de la predilección por los ganglios basales se desconoce, aunque puede estar relacionado con las características específicas de la vascularización de la zona (AU)
Introduction. The damage caused to the central nervous system by lightning can be immediate or delayed. Cerebrovascular accidents are usually an infrequent complication of lightning strikes. Case report. We report the case of a patient who was hit by lightning and then developed an acute bilateral intraparenchymatous haemorrhage in the basal ganglia and the left internal capsule. Discussion. Few cases of intracranial haemorrhages secondary to lightning strikes have been reported. We carry out a review and analysis of the literature currently available on the subject. A number of theories have been put forward that attempt to explain the mechanism behind these haemorrhages in patients who have been hit by lightning. The reason why there is a predilection for the basal ganglia is unknown, although it could be linked to the particular features of the vascularisation of the area (AU)
Subject(s)
Female , Middle Aged , Male , Humans , Cerebrovascular Disorders , Vasospasm, Intracranial , Vasodilator Agents , Ultrasonography, Doppler, Transcranial , Nimodipine , Cerebral Cortex , Cerebral Angiography , Lightning Injuries , Intracranial Hemorrhages , Basal Ganglia , Trauma, Nervous System , Middle Cerebral ArteryABSTRACT
No disponible
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