Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies

Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness. Mutations in four genes (CACNA1A, ATP1A2, SCN1A and PRRT2) have been detected in familial and in sporadic cases. This genetically and clinically heterogeneous disorder is often accompanied by permanent ataxia, epileptic seizures, mental retardation, and chronic progressive cerebellar atrophy. Here we report a mutation screening in the CACNA1A and ATP1A2 genes in 18 patients with HM. Furthermore, intragenic copy number variant (CNV) analysis was performed in CACNA1A using quantitative approaches. We identified four previously described missense CACNA1A mutations (p.Ser218Leu, p.Thr501Met, p.Arg583Gln, and p.Thr666Met) and two missense changes in the ATP1A2 gene, the previously described p.Ala606Thr and the novel variant p.Glu825Lys. No structural variants were found. This genetic screening allowed the identification of more than 30% of the disease alleles, all present in a heterozygous state. Functional consequences of the CACNA1A-p.Thr501Met mutation, previously described only in association with episodic ataxia, and ATP1A2-p.Glu825Lys, were investigated by means of electrophysiological studies, cell viability assays or Western blot analysis. Our data suggest that both these variants are disease-causing

Ten golden rules for optimal antibiotic use in hospital settings: the WARNING call to action

Antibiotics are recognized widely for their benefits when used appropriately. However, they are often used inappropriately despite the importance of responsible use within good clinical practice. Effective antibiotic treatment is an essential component of universal healthcare, and it is a global responsibility to ensure appropriate use. Currently, pharmaceutical companies have little incentive to develop new antibiotics due to scientific, regulatory, and financial barriers, further emphasizing the importance of appropriate antibiotic use. To address this issue, the Global Alliance for Infections in Surgery established an international multidisciplinary task force of 295 experts from 115 countries with different backgrounds. The task force developed a position statement called WARNING (Worldwide Antimicrobial Resistance National/International Network Group) aimed at raising awareness of antimicrobial resistance and improving antibiotic prescribing practices worldwide. The statement outlined is 10 axioms, or “golden rules,” for the appropriate use of antibiotics that all healthcare workers should consistently adhere in clinical practice

Rómulo Gallegos

Seminario de Historia del Pensamiento. Colección Mar Adentro. Dirigida por Jesús Arellano y Francisco Elías de TejadaEste libro no pretende dar luz a ningún problema de la historia literaria hispanoamericana. Sus páginas tratan de un sólo hecho literario: las Novelas de Rómulo Gallegos; por consiguiente, no hay en ellas hipótesis alguna, y su intento es exponer los resultados de un análisis literario, y hallar significado a los resultados obtenidosPeer reviewe

Puntualizaciones en torno a Ximénez de Quesada: Notas quesandinas y antifranklianas.

Sin resume

Cultura iberoamericana actual, sus raices

José Vila Selm

Estudios americanos: revista de síntesis e interpretación. vol 2 (7)

Teoría de la EmancipaciónLa Sociedad en la época de los Reyes CatólicosHispanoamérica en la Bienal de VeneciaSentido de la Filosofía CubanaEspaña y su ProblemáticaInfancia y alucinación. Literatura Pedagógica PeruanaPolítica exterior norteameriana: de Yalta a la crisis de CoreaLa Nueva Arquitectura del BrasilLa vida universitaria en los Estados UnidosLa frontera Peruano-EcuatorianaEsencia y misión de HispanoaméricaExposición de ArtePinturas murales en la RábidaPeer reviewe