Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions. A detailed phenotypic delineation of interstitial 16p13.3 duplications is hampered by the scarcity of such patients. Objectives To delineate the phenotypic spectrum associated with interstitial 16p13.3 duplications, and perform a genotype-phenotype analysis. Results The present report describes the genotypic and phenotypic delineation of nine submicroscopic interstitial 16p13.3 duplications. The critically duplicated region encompasses a single gene, CREBBP, which is mutated or deleted in Rubinstein-Taybi syndrome. In 10 out of the 12 hitherto described probands, the duplication arose de novo. Conclusions Interstitial 16p13.3 duplications have a recognizable phenotype, characterized by normal to moderately retarded mental development, normal growth, mild arthrogryposis, frequently small and proximally implanted thumbs and characteristic facial features. Occasionally, developmental defects of the heart, genitalia, palate or the eyes are observed. The frequent de novo occurrence of 16p13.3 duplications demonstrates the reduced reproductive fitness associated with this genotype. Inheritance of the duplication from a clinically normal parent in two cases indicates that the associated phenotype is incompletely penetrant

SINPHOS - SINgle PHOton spectrometer for biomedical application

In the last decades several experiments have clearly demonstrated that, once illuminated, all biological systems emit for some time a very weak flux of photons, called Delayed Luminescence (DL). Some recent results have shown the possibility of using the DL as a diagnostic tool in the field of optical biopsy or of multi-dimensional diagnostics. Following such indications we decided to start developing SINPHOS, a monolithic micro-device, capable of measuring simultaneously the time distribution and the spectrum of photons coming from a weak source. Two important innovative aspects will characterize this spectrometer: the optical part, realized by means of the Deep Lithography with Particles (DLP), and SPAD (Single Photon Avalanche Diode) detectors under development along with ST-Microelectronics

Matrixes of unconventional micro-optical components molded with etched silicon

This paper reports on a process to create microlenses characterized by unconventional footprints, spherical profiles and a wide range of sizes. Fabricated shapes such as squares, rectangles, ellipses, triangles and hexagons are tested alone as well as in matrix with high fulfill factors. The technique is based on molds from which microlenses are fabricated by UV-molding replication. The molds are produced by silicon wet isotropic etching in an acid solution. The process is mainly steered by temperature and etching concentration. The use of the proposed technology opens a wide range of geometries allowing the fabrication of microlenses matrices with high fulfill factors as well as microlenses for beam-shaping

Diffuse-light absorption spectroscopy and chemometrics for discrimination and quantification of extra virgin olive oil adulterants

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Deterministic polarization chaos from a laser diode

Fifty years after the invention of the laser diode and fourty years after the report of the butterfly effect - i.e. the unpredictability of deterministic chaos, it is said that a laser diode behaves like a damped nonlinear oscillator. Hence no chaos can be generated unless with additional forcing or parameter modulation. Here we report the first counter-example of a free-running laser diode generating chaos. The underlying physics is a nonlinear coupling between two elliptically polarized modes in a vertical-cavity surface-emitting laser. We identify chaos in experimental time-series and show theoretically the bifurcations leading to single- and double-scroll attractors with characteristics similar to Lorenz chaos. The reported polarization chaos resembles at first sight a noise-driven mode hopping but shows opposite statistical properties. Our findings open up new research areas that combine the high speed performances of microcavity lasers with controllable and integrated sources of optical chaos.Comment: 13 pages, 5 figure