Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Background: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS). However, the increasing number of individuals with a GPIBD shows that hyperphosphatasia is a variable feature that is not ideal for a clinical classification.

Investigation of spectrally shaped DFTS-OFDM for long haul transmission.

DFTS-OFDM has been proposed recently as an alternative to coherent optical OFDM due to its improved transmission performance. This paper proposes spectral shaping for DFTS-OFDM which reduces the PAPR leading to further improvement in nonlinear tolerance. It is shown that for both SSMF and LEAF, the optimized spectrally shaped DFTS-OFDM outperforms DFTS-OFDM for dispersion managed and unmanaged links by ~10.