Genetics of intellectual disability in consanguineous families

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo mutations, which are the predominant cause of ID in Western countries, the identification of AR-ID genes has lagged behind. Here, we report on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring. In 219 of these, we found likely causative variants, involving 77 known and 77 novel AR-ID (candidate) genes, 21 X-linked genes, as well as 9 genes previously implicated in diseases other than ID. This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence

Brixsino High-Flux Dual X-Ray and THz Radiation Source Based on Energy Recovery Linacs

We present the conceptual design of a compact light source named BriXSinO. BriXSinO was born as demonstrator of the Marix project, but it is also a dual high flux radiation source Inverse Compton Source (ICS) of X-ray and Free-Electron Laser of THz spectral range radiation conceived for medical applications and general applied research. The accelerator is a push-pull CW-SC Energy Recovery Linac (ERL) based on superconducting cavities technology and allows to sustain MW-class beam power with almost just one hundred kW active power dissipation/consumption. ICS line produces 33 keV monochromatic X-Rays via Compton scattering of the electron beam with a laser system in Fabry-Pérot cavity at a repetition rate of 100 MHz. The THz FEL oscillator is based on an undulator imbedded in optical cavity and generates THz wavelengths from 15 to 50 micron

Pyrolytic Conversion of Vomitoxin-Contaminated Corn into Value-Added Products

Deoxynivalenol (DON) (also called vomitoxin) is a mycotoxin caused by pathogens that periodically contaminate crops such as maize, wheat, barley, oats, and rye, making them unusable. We explored pyrolysis as a process for the decontamination of vomitoxin-corn grains and their transformation into value-added products. Pyrolysis was carried out in a bench-scale batch reactor at maximum temperatures between 450 and 650 °C. This resulted in the total destruction of DON, from 5–7 ppm in raw corn grains to non-detectable levels in the treated bio-char. The effect of pyrolysis conditions, including temperature and heating rate, on the conversion of toxic corn grains was investigated. The maximum bio-oil yield was achieved at 650 °C (47 wt.%). The co-products were bio-char (29 wt.%) and non-condensable gases (24 wt.%). Acetic acid and levoglucosan were the two major valuable components in the bio-oil, corresponding to 26 g/kg and 13 g/kg of bio-oil, respectively. The bio-chars were analyzed and upgraded by physical activation using CO2 at 900 °C. Activation increased the bio-char surface area to 419 m2g−1 and promoted pore development, which was verified by SEM. Proximate analysis illustrated that stable carbon increased to 88.8% after activation compared to 10.9% in the raw corn. FT-IR results showed that the thermally unstable functional groups had been completely eliminated after activation. All characterization results confirmed that the activated corn bio-char has excellent potential for adsorption processes. The HHV of the non-condensable gas stream was 16.46 MJ/Nm3, showing the potential application of this product as an energy source

Defects in the amorphous−crystalline evolution of gel-derived TiO2

The catalytic and electro-optical properties of TiO2based materials depend on the defectivity of their electronic structures and in turn on the synthesis conditions. It is however less clear how to control the number of defects in this oxide. In this paper, spectroscopic and structural characterization of chemical [acetylacetonate−TiO2, hybrid gel, hybrid sol−gel titania (HSGT)] and particulate [inorganic gel, sol−gel titania (SGT)] TiO2 amorphous gels is presented. HSGT and SGT were thermally treated at different annealing temperatures and at various times, obtaining anatase or rutile samples. X-ray diffraction, X-ray photoelectron spectroscopy (XPS), and terahertz-time domain spectroscopy (THz-TDS) were exploited for monitoring changes in the crystallographic structure, chemical composition, and dielectric function. It is found that the thermal treatment affects in different ways the hybrid and the particulate TiO2 gels, resulting in an increase of electron transfer in the former. Moreover, XPS combined with X-ray-induced Auger electron spectroscopy provides evidence that the ionicity of the bond is also different and well correlates with the number of defects. These results demonstrate that XPS and THz-TDS techniques can be used as complementary tools for determining the electronic properties of titania with various degrees of crystallinity and defects

Occurrence, distribution, and potential sources of antibiotics pollution in the water-sediment of the northern coastline of the Persian Gulf, Iran

Occurrence and frequency of six most prescribed antibiotics (tetracycline, norfloxacin, azithromycin, anhydro erythromycin, cephalexin, and amoxicillin) were assessed in three wastewater treatment plants (WWTPs), and in water and sediments of the Persian Gulf at Bushehr coastline, Iran. The antibiotics concentration in the influent and effluent of septic tank (the hospital WWTP), activated sludge (the hospital WWTP), and stabilization pond (municipal WWTP) ranged between 7.89 and 149.63, 13.49–198.47, 6.55–16.37 ng/L, respectively. Conventional treatment resulted in incomplete removal of most of the studied antibiotics. Furthermore, the activated sludge was more effective in terms of antibiotic elimination compared to the stabilization pond or septic tank. The mean concentration of antibiotics ranged 1.21–51.50 ng/L in seawater and 1.40–25.32 ng/g in sediments during summer and winter. Norfloxacin was the dominant detected antibiotic in seawater, sediments, and influent of two hospital WWTPs. Seasonal comparisons showed significant differences for erythromycin and amoxicillin concentrations in seawater. Spatial variation indicated the role of physicochemical properties on distribution of antibiotics in seawater and sediments. The results emphasize the need to pay attention to antibiotic contamination in water and sediments of the Persian Gul

Defects in the Amorphous–Crystalline Evolution of Gel-Derived TiO2

The catalytic and electro-optical properties of TiO2-based materials depend on the defectivity of their electronic structures and in turn on the synthesis conditions. It is however less clear how to control the number of defects in this oxide. In this paper, spectroscopic and structural characterization of chemical [acetylacetonate–TiO2, hybrid gel, hybrid sol–gel titania (HSGT)] and particulate [inorganic gel, sol–gel titania (SGT)] TiO2 amorphous gels is presented. HSGT and SGT were thermally treated at different annealing temperatures and at various times, obtaining anatase or rutile samples. X-ray diffraction, X-ray photoelectron spectroscopy (XPS), and terahertz-time domain spectroscopy (THz-TDS) were exploited for monitoring changes in the crystallographic structure, chemical composition, and dielectric function. It is found that the thermal treatment affects in different ways the hybrid and the particulate TiO2 gels, resulting in an increase of electron transfer in the former. Moreover, XPS combined with X-ray-induced Auger electron spectroscopy provides evidence that the ionicity of the bond is also different and well correlates with the number of defects. These results demonstrate that XPS and THz-TDS techniques can be used as complementary tools for determining the electronic properties of titania with various degrees of crystallinity and defects