Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

The study of Drosophila neurodegenerative mutants combined with genetic and biochemical analyses lead to the identification of multiple complex mutations in 60 patients with a novel form of ataxia/leukoencephalopathy

Chromatin Organization in Sperm May Be the Major Functional Consequence of Base Composition Variation in the Human Genome

Chromatin in sperm is different from that in other cells, with most of the genome packaged by protamines not nucleosomes. Nucleosomes are, however, retained at some genomic sites, where they have the potential to transmit paternal epigenetic information. It is not understood how this retention is specified. Here we show that base composition is the major determinant of nucleosome retention in human sperm, predicting retention very well in both genic and non-genic regions of the genome. The retention of nucleosomes at GC-rich sequences with high intrinsic nucleosome affinity accounts for the previously reported retention at transcription start sites and at genes that regulate development. It also means that nucleosomes are retained at the start sites of most housekeeping genes. We also report a striking link between the retention of nucleosomes in sperm and the establishment of DNA methylation-free regions in the early embryo. Taken together, this suggests that paternal nucleosome transmission may facilitate robust gene regulation in the early embryo. We propose that chromatin organization in the male germline, rather than in somatic cells, is the major functional consequence of fine-scale base composition variation in the human genome. The selective pressure driving base composition evolution in mammals could, therefore, be the need to transmit paternal epigenetic information to the zygote

Clinical performance of a continuous viscometric affinity sensor for glucose

A viscometric affinity sensor has been developed to measure the interstitial glucose concentration continuously. In a pilot clinical study its performance was assessed under conditions close to everyday life. Additionally, different insertion sites were tested for their suitability to apply subcutaneous glucose sensors

Long-term changes in oral health-related quality of life over a period of 5 years in patients treated with narrow diameter implants: A prospective clinical study.

OBJECTIVES The aim of this study was to assess long-term changes in oral health-related quality of life (OHRQoL) over a period of 5 years in patients treated with narrow diameter implants (NDI) in the mandible for support of an overdenture. METHODS In this prospective clinical study, a consecutive sample of 20 edentulous patients who had worn sufficient complete dentures for at least 12 weeks was provided with four immediately loaded one-piece titanium NDIs in the mandible. The German 49-item version of the Oral Health Impact Profile (OHIP) was applied to assess OHRQoL at baseline and all follow-ups (4 and 8 weeks, 3, 6, and 12 months, and 3 and 5 years after treatment was finished). RESULTS Before treatment, OHRQoL was substantially impaired indicated by high OHIP summary score (39.9 points). Four weeks after treatment, a substantial treatment-induced drop of OHRQoL impairment was observed (21.8 OHIP points), and at all follow-ups, OHIP scores were lower than at baseline (15.9-26.5 OHIP points; ANOVA: p<.001). Based on mixed-effect linear regression analyses, the treatment-induced effect on OHRQoL improvement over the entire study period was statistically significant for the OHIP summary scores as well as for all four OHIP domains: Oral Function, Orofacial Pain, Orofacial Appearance, and Psychosocial Impact (all: p<.001). CONCLUSIONS This study suggests that four immediately loaded NDIs for the support of conventional complete dentures in edentulous patients with substantially impaired OHRQoL may lead to a long-lasting treatment-induced improvement in OHRQoL. CLINICAL SIGNIFICANCE The provision of four NDI in the edentulous mandible is a promising treatment option for patients with substantial OHRQoL impairment and a positive attitude towards implant treatment. Furthermore, patients can be informed that improvements in OHRQoL are expected to last for at least 5 years

Splitting CO2 with a ceria-based redox cycle in a solar-driven thermogravimetric analyzer

Thermochemical splitting of CO2 via a ceria-based redox cycle was performed in a solar-driven thermogravimetric analyzer. Overall reaction rates, including heat and mass transport, were determined under concentrated irradiation mimicking realistic operation of solar reactors. Reticulated porous ceramic (RPC) structures and fibers made of undoped and Zr4+-doped CeO2, were endothermally reduced under radiative fluxes of 1280 suns in the temperature range 1200–1950 K and subsequently re-oxidized with CO2 at 950–1400 K. Rapid and uniform heating was observed for 8 ppi ceria RPC with mm-sized porosity due to its low optical thickness and volumetric radiative absorption, while ceria fibers with μm-sized porosity performed poorly due to its opacity to incident irradiation. The 10 ppi RPC exhibited higher fuel yield because of its higher sample density. Zr4+-doped ceria showed increasing reduction extents with dopant concentration but decreasing specific CO yield due to unfavorable oxidation thermodynamics and slower kinetics.ISSN:1547-5905ISSN:0001-154