Autism spectrum disorders (ASDs) constitute a group of severe neurodevelopmental conditions with complex multifactorial etiology. In order to explore the hypothesis that submicroscopic genomic rearrangements underlie some ASD cases, we have analyzed 96 Spanish patients with idiopathic ASD after extensive clinical and laboratory screening, by array comparative genomic hybridization (aCGH) using a homemade bacterial artificial chromosome (BAC) array. Only 13 of the 238 detected copy number alterations, ranging in size from 89 kb to 2.4 Mb, were present specifically in the autistic population (12 out of 96 individuals, 12.5%). Following validation by additional molecular techniques, we have characterized these novel candidate regions containing 24 different genes including alterations in two previously reported regions of chromosome 7 associated with the ASD phenotype. Some of the genes located in ASD-specific copy number variants act in common pathways, most notably the phosphatidylinositol signaling and the glutamatergic synapse, both known to be affected in several genetic syndromes related with autism and previously associated with ASD. Our work supports the idea that the functional alteration of genes in related neuronal networks is involved in the etiology of the ASD phenotype and confirms a significant diagnostic yield for aCGH, which should probably be included in the diagnostic workup of idiopathic ASD.

Recently, Collado (Proc, IMECE 2001, Symposium on Fluid Physics and Heat Transfer for Macro- and Micro-Scale Gas-Liquid and Phase Change Flows) suggested calculating void fraction, an essential element in thermal-hydraulics, working with the “thermodynamic” quality instead of the usual “flow” quality. The “thermodynamic” quality is a state variable, which has a direct relation with the actual vapor volumetric fraction, or void fraction, through phase densities. This approach provides a procedure for predicting void fraction, if values of “thermodynamic” quality are available. However, the standard heat balance is usually stated as a function of the “flow” quality. Therefore, we should search for a new heat balance between the mixture enthalpy, based on “thermodynamic” quality, and the absorbed heat. This paper presents the results of such analysis based on the accurate measurements of the outlet void fraction measured during the Cambridge project by Knights (1960, “A Study of Two-Phase Pressure Drop and Density Determination in a High-Pressure Steam-Water Circuit,” Ph.D. thesis, Cambridge University Engineering Lab, Cambridge, UK) in the 1960s for saturated flow boiling. In the 286 tests analyzed, the pressure and mass fluxes range from 1.72 MPa to 14.48 MPa and from 561.4 to 1833.33 kgm−2s−1, respectively. As the main result, we find that the slip ratio would close this new thermodynamic heat balance. This has allowed the accurate calculation of void fraction from this balance, provided we can predict the slip ratio. Finally, the strong connection of this new thermodynamic heat balance with the standard one through the slip ratio is highlighted.

No abstract