Revista de neurologia
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Revista de neurologia · Jun 2013
Review[Brainstem auditory evoked potentials and somatosensory evoked potentials in Chiari malformation].
Chiari malformations (CM) include a series of congenital anomalies involving the descent of the cerebellar tonsils below the foramen magnum, which may be associated with compression in the brainstem, upper spinal cord, and cranial nerves, consequently altering the responses of brainstem auditory evoked potentials (BAEP) and somatosensory evoked potentials (SSEP). However, only a small number of authors have described the indications of these tests in CM, and study groups to date have been small and heterogeneous. ⋯ Common findings of SSEP are a reduction in cortical amplitude from the posterior tibial nerve, a reduction or absence of cervical median nerve potential, and an increased N13-N20 interval. In BAEP, the most frequent findings are an increased I-V interval and a peripheral or cochlear auditory disturbance.
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Revista de neurologia · May 2013
Review Case Reports[Chorea due to TITF1/NKX2-1 mutation: phenotypical description and therapeutic response in a family].
Chorea due to a mutation in the TITF1 gene, which is also known as benign hereditary chorea, is an autosomal dominant disorder that usually begins before the age of 5 years. In most cases, the chorea tends to improve as the child gets older. It may be associated to hypothyroidism and respiratory problems, such as neonatal alveolar respiratory distress syndrome or interstitial disease, since TITF1 is a transcription factor that is essential for the development of the brain, thyroid gland and lung. ⋯ Chorea due to mutation of TITF1 is an underdiagnosed cause of chorea in children. Since it is possible to conduct a genetic diagnosis, we believe that performing it is always indicated in dominant familial cases, bearing in mind the variable penetrance, as well as in patients who present concomitant involvement of the lungs or hypothyroidism. Occasionally, it may be recommendable in cases of chorea with an unknown causation, which will enable us to avoid other tests, give a non-degenerative prognosis, offer genetic counselling and carry out more guided and effective therapeutic trials. For the time being, levodopa seems to be the preferred symptomatic treatment.
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Revista de neurologia · Apr 2013
[Productivity and impact of Spanish research into multiple sclerosis (1996-2010)].
To quantify by means of bibliometric indicators the scientific productivity of Spanish researchers and institutions that publish on multiple sclerosis in national and international journals during the period 1996-2010, and to determine their impact. ⋯ The number of papers has increased steadily from 1996 to 2010, confirming the consolidation and growth of Spanish research in multiple sclerosis, whose results are published in a Revista de Neurologia and Multiple Sclerosis. We emphasize the growing internationalization of the Spanish research on the disease, but it is worrying that a third of the papers has not been cited.
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Revista de neurologia · Apr 2013
[Should a more interventionist approach be taken in A and E departments with atypical febrile seizures? Three years' experience in a tertiary hospital].
Atypical febrile seizures (AFS) have been related with a higher incidence of severe pathologies of the central nervous system (CNS). Recent studies show a reduction in the prevalence of some of these diseases, a fact that could affect their management. AIMS. To determine the prevalence of severe pathologies of the CNS in patients treated for AFS in A and E departments and to detect any differences between these and patients suffering from AFS that is not associated to any severe pathology. ⋯ Given the fact that the prevalence of severe pathology of the CNS in patients with AFS is low, carrying out complementary tests or admission to hospital on a routine basis are not recommended. Certain characteristics of the episode increase the likelihood of AFS being the manifestation of a severe pathology of the CNS (being a first episode, presenting more than one diagnostic criterion for AFS and being a focal seizure or epileptic status), and should therefore be taken into account in the management of the patient.