Tiempo lingüístico y aspecto. Aproximaciones conceptual y contrastiva: árabe, francés y español

Este artículo tiene como principal objetivo exponer las especificidades temporales y aspectuales del sistema verbal de la lengua árabe en contraste con el de las lenguas romances, en este caso, el español y el francés, como paso imprescindible previo a la realización de un estudio empírico sobre la adquisición de los pretéritos imperfecto e indefinido del español como L3 por aprendientes arabófonos tunecinos con L2 francés. Tal contraste sugiere que, a pesar de la disparidad entre las lenguas romances aquí examinadas y el árabe en lo que a expresión de tiempo pasado y aspecto se refiere, las combinaciones semánticas entre aspecto léxico y flexivo son ampliamente similares en las tres lenguas, por lo que se puede formular como hipótesis que la adquisición de los pretéritos imperfecto e indefinido del español, así como su semántica aspectual, no deberían plantear problemas para los arabófonos tunecinos con L2 francés

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in the first two decades of life. Effective treatment is lacking. First insights into disease mechanisms came from identification of single-gene causes of SRNS. However, the frequency of single-gene causation and its age distribution in large cohorts are unknown. We performed exon sequencing of NPHS2 and WT1 for 1783 unrelated, international families with SRNS. We then examined all patients by microfluidic multiplex PCR and next-generation sequencing for all 27 genes known to cause SRNS if mutated. We detected a single-gene cause in 29.5% (526 of 1783) of families with SRNS that manifested before 25 years of age. The fraction of families in whom a single-gene cause was identified inversely correlated with age of onset. Within clinically relevant age groups, the fraction of families with detection of the single-gene cause was as follows: onset in the first 3 months of life (69.4%), between 4 and 12 months old (49.7%), between 1 and 6 years old (25.3%), between 7 and 12 years old (17.8%), and between 13 and 18 years old (10.8%). For PLCE1, specific mutations correlated with age of onset. Notably, 1% of individuals carried mutations in genes that function within the coenzyme Q10 biosynthesis pathway, suggesting that SRNS may be treatable in these individuals. Our study results should facilitate molecular genetic diagnostics of SRNS, etiologic classification for therapeutic studies, generation of genotype-phenotype correlations, and the identification of individuals in whom a targeted treatment for SRNS may be available

Influencias interlingüísticas: desarrollos recientes. Transferencias en adquisición de tiempo y aspecto en español 3

El presente trabajo pretende presentar, a modo de revisión, los últimos desarrollos teórico-empíricos que experimentó el estudio de las influencias interlingüísticas, poniendo especial énfasis en aquellas relacionadas con el relativamente joven ámbito de la Adquisición de terceras lenguas, destacando asimismo los resultados y hallazgos más importantes, a la vez que subraya la necesidad de investigar debidamente las áreas poco exploradas, especialmente las referidas a la adquisición de la morfosintaxis y al tiempo y el aspecto en español L3

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in the first two decades of life. Effective treatment is lacking. First insights into disease mechanisms came from identification of single-gene causes of SRNS. However, the frequency of single-gene causation and its age distribution in large cohorts are unknown. We performed exon sequencing of NPHS2 and WT1 for 1783 unrelated, international families with SRNS. We then examined all patients by microfluidic multiplex PCR and next-generation sequencing for all 27 genes known to cause SRNS if mutated. We detected a single-gene cause in 29.5% (526 of 1783) of families with SRNS that manifested before 25 years of age. The fraction of families in whom a single-gene cause was identified inversely correlated with age of onset. Within clinically relevant age groups, the fraction of families with detection of the single-gene cause was as follows: onset in the first 3 months of life (69.4%), between 4 and 12 months old (49.7%), between 1 and 6 years old (25.3%), between 7 and 12 years old (17.8%), and between 13 and 18 years old (10.8%). For PLCE1, specific mutations correlated with age of onset. Notably, 1% of individuals carried mutations in genes that function within the coenzyme Q10 biosynthesis pathway, suggesting that SRNS may be treatable in these individuals. Our study results should facilitate molecular genetic diagnostics of SRNS, etiologic classification for therapeutic studies, generation of genotype-phenotype correlations, and the identification of individuals in whom a targeted treatment for SRNS may be available