3 resultados para PTP-1B
Resumo:
[ES]este proyecto trata sobre el desarrollo de un core en una FPGA para conseguir, gracias a un módulo GPS, una referencia temporal precisa, necesaria para un equipo PTP master (IEEE-1588), a bajo coste y con calidad Grand Master.
Resumo:
[ES]El proyecto presentado a continuación muestra la elaboración de un core para ser embebido dentro de las denominadas FPGAs (Field Programmable Gate Array), cuya finalidad es la creación de una referencia temporal, en arquitectura de 64bits, gracias a un módulo GPS (Global Positioning System), lo más cercana posible al orden de las decenas de nano-segundos, para poder ser insertado en un equipo PTP-Master (Precision Time Protocol - Master) (IEEE (Institute of Electrical and Electronics Engineers) - 1588), a bajo coste y con calidad comparable a la de los dispositivos Grand Master.
Resumo:
Context Pseudohypoparathyroidism type 1b (PHP-Ib) is characterized by renal resistance to PTH (and, sometimes, a mild resistance to TSH) and absence of any features of Albright's hereditary osteodystrophy. Patients with PHP-Ib suffer of defects in the methylation pattern of the complex GNAS locus. PHP-Ib can be either sporadic or inherited in an autosomal dominant pattern. Whereas familial PHP-Ib is well characterized at the molecular level, the genetic cause of sporadic PHP-Ib cases remains elusive, although some molecular mechanisms have been associated with this subtype. Objective The aim of the study was to investigate the molecular and imprinting defects in the GNAS locus in two unrelated patients with PHP-Ib. Design We have analyzed the GNAS locus by direct sequencing, Methylation-Specific Multiplex Ligation-dependent Probe Amplification, microsatellites, Quantitative Multiplex PCR of Short Fluorescent fragments and array-Comparative Genomic Hybridization studies in order to characterize two unrelated families with clinical features of PHP-Ib. Results We identified two duplications in the GNAS region in two patients with PHP-Ib: one of them, comprising similar to 320 kb, occurred 'de novo' in the patient, whereas the other one, of similar to 179 kb in length, was inherited from the maternal allele. In both cases, no other known genetic cause was observed. Conclusion In this article, we describe the to-our-knowledge biggest duplications reported so far in the GNAS region. Both are associated to PHP-Ib, one of them occurring 'de novo' and the other one being maternally inherited.