Tratamiento con parches de lidocaína en la neuropatía ilioinguinal / Treatment with lidocaine patches in ilioinguinal neuropathy

No disponible

[Music and brain (II): evidence of musical training in the brain]. / Música y cerebro (II): evidencias cerebrales del entrenamiento musical.

Music is a very powerful multimodal stimulus that transmits visual, auditory and motor information to our brain, which in turn has a specific network for processing it, consisting in the frontotemporoparietal regions. This activation can be very beneficial in the treatment of several syndromes and diseases, either by rehabilitating or by stimulating altered neuronal connections. We also review the peculiarities of the musician's brain and we look at how the brain adapts according to the needs that must be met in order to improve musical performance.

[Music and brain: neuroscientific foundations and musical disorders]. / Música y cerebro: fundamentos neurocientíficos y trastornos musicales.

Music is present in every culture and, from the earliest ages, we all have the basic capacities needed to process it, although this processing takes place in different modules that involve different regions of the brain. Do these regions form paths that are specific to musical processing? As we shall see, the production and perception of music engage a large part of our cognitive capabilities, involving areas of the auditory cortex and the motor cortex. On the other hand, music produces emotional responses within us that involve other cortical and subcortical areas. Are they the same paths as the ones engaged in the processing of emotions in general? We review the existing literature on these questions, as well as the different musical neurological disorders that exist, which range from musicogenic epilepsy to amusia, together with the different possible means of treatment.

Música y cerebro: fundamentos neurocientíficos y trastornos musicales / Music and brain: neuroscientific foundations and musical disorders

Resumen. La música está presente en todas las culturas y, desde edades tempranas, todas las personas tenemos las capacidades básicas para su procesamiento, el cual está organizado en módulos diferenciados que implican distintas regiones cerebrales. ¿Forman estas regiones rutas específicas del procesamiento musical? Como veremos, la producción y percepción musical implican gran parte de nuestras capacidades cognitivas, involucrando áreas del córtex auditivo y del córtex motor. Por otro lado, la música produce en nosotros respuestas emocionales que involucran distintas áreas corticales y subcorticales. ¿Se trata de las mismas rutas implicadas en el procesamiento de las emociones en general? Revisamos la bibliografía existente sobre estas cuestiones, así como las diferentes alteraciones neurológicas musicales que existen, desde la epilepsia musicogénica hasta la amusia, así como las diferentes posibilidades de tratamiento (AU)

Summary. Music is present in every culture and, from the earliest ages, we all have the basic capacities needed to process it, although this processing takes place in different modules that involve different regions of the brain. Do these regions form paths that are specific to musical processing? As we shall see, the production and perception of music engage a large part of our cognitive capabilities, involving areas of the auditory cortex and the motor cortex. On the other hand, music produces emotional responses within us that involve other cortical and subcortical areas. Are they the same paths as the ones engaged in the processing of emotions in general? We review the existing literature on these questions, as well as the different musical neurological disorders that exist, which range from musicogenic epilepsy to amusia, together with the different possible means of treatment (AU)

Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene).

OBJECTIVE: We aimed to study clinical, radiological and molecular genetic features of patients with cerebral cavernous malformations (CCMs) from the Iberian Peninsula. METHODS: We screened Krit1(CCM1), MGC4607(CCM2), and PDCD10(CCM3) by systematic SSCP and direct sequencing of coding exons in 48 nuclear families and 30 sporadic cases of CCM from Spain and Portugal. RESULTS: Screening of CCM patients detected nine different mutations in 19 families. We found four new mutations in Krit1. Three of them were caused by either a small insertion or deletion, which lead to frameshift and premature termination codons. We also found a missense L308H mutation located in a highly conserved sequence within the ankyrin domain of Krit1. In CCM2, we found a redundant 14 bp deletion in exon 5 of MGC4607 which predicts a truncated protein at residue 230. We did not find mutations in CCM3. CONCLUSIONS: Finding that the 14 bp deletion was present in eleven families from the Iberian Peninsula indicates a high prevalence of this mutation. This redundant CCM2 mutation is worth considering in molecular diagnosis and genetic counselling of cerebral cavernous malformations.

Hypothyroidism and Parkinson's disease and the issue of diagnostic confusion.

Development of hypothyroidism may easily be overlooked when occurring together with Parkinson's disease (PD), because many of the symptoms of the two disorders are similar. We report on a case of a woman suffering from both PD and hypothyroidism and review the literature on the subject.

Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene.

BACKGROUND: Cerebral cavernous malformations (CCM) present as either sporadic or autosomal dominant conditions with incomplete penetrance of symptoms. Differences in genetic and environmental factors might be minimized among first-degree relatives. We therefore studied clinical expression in a family with several affected members. METHODS: We studied a three-generation family with the onset of CCM as a cerebral haemorrhage in the younger (four-year-old) sibling. Identification and enumeration of CCMs were performed in T2-weighted or gradient-echo MRIs of the whole brains. Genetic analysis comprised SCCP, sequencing and restriction polymorphism of the Krit1 gene in the proband and at risk relatives. RESULTS: The phenotypes of cerebral cavernous malformations (CCMs) in carriers of Krit1 mutations were very variable. We identified a novel frameshift mutation caused by a 1902A insertion in exon 17 of the Krit1 gene, which leads to a premature TAA triplet and predicts the truncating phenotype Y634X. A very striking finding was the absence of both clinical symptoms and CCMs in the eldest sibling harbouring the 1902insA. CONCLUSIONS: Patients in this family, harbouring the same mutation, illustrate the very variable clinical and radiological expression of a Krit1 mutation. The early and critical onset in the proband contrasts with minor clinical findings in affected relatives. This consideration is important in genetic counselling.