Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

Oculodentodigital dysplasia is an autosomal dominant disorder due to variants characterized by dysmorphic features. Neurologic symptoms have been described in some patients but without a clear neuroimaging pattern. To understand the pathophysiology underlying neurologic deficits in oculodentodigital dysplasia, we studied 8 consecutive patients presenting with hereditary spastic paraplegia due to variants. Clinical disease severity was highly variable. Cerebral MR imaging revealed variable white matter abnormalities, consistent with a hypomyelination pattern, and bilateral hypointense signal of the basal ganglia on T2-weighted images and/or magnetic susceptibility sequences, as seen in neurodegeneration with brain iron accumulation diseases. Patients with the more prominent basal ganglia abnormalities were the most disabled ones. This study suggests that -related hereditary spastic paraplegia is a complex neurodegenerative disease affecting both the myelin and the basal ganglia. variants should be considered in patients with hereditary spastic paraplegia presenting with brain hypomyelination, especially if associated with neurodegeneration and a brain iron accumulation pattern

Evolution of the levels of human leukocyte antigen G (HLA-G) in Beninese infant during the first year of life in a malaria endemic area : using latent class analysis

Background: HLA-G, a non-classical HLA class I antigen, is of crucial interest during pregnancy by inhibiting maternal immune response. Its role during infections is discussed, and it has been described that high levels of soluble HLA-G during childhood increase the risk of malaria. To explore more precisely interactions between soluble HLA-G and malaria, latent class analysis was used to test whether distinct sub-populations of children, each with distinctive soluble HLA-G evolutions may suggest the existence of groups presenting variable malaria susceptibility. Method: A study was conducted in Benin from 2010 to 2013 and 165 children were followed from birth to 12 months. Evolution of soluble HLA-G was studied by the latent class method. Results: Three groups of children were identified: one with consistently low levels of soluble HLA-G during follow-up, a second with very high levels and a last intermediate group. In all groups, low birth weight, high number of malaria infections and high exposure to malaria transmission were associated with high level of soluble HLA-G. Placental malaria was not. Presence of soluble HLA-G in cord blood increased the probability of belonging to the highest trajectory. Conclusion: These results, together with previous ones, confirm the important role of HLA-G in the individual susceptibility to malaria. Assaying soluble HLA-G at birth could be a good indicator of newborns more fragile and at risk of infections during childhood

Oscillations above the barrier in the fusion of 28Si + 28Si

Fusion cross sections of 28Si + 28Si have been measured in a range above the barrier with a very small energy step (DeltaElab = 0.5 MeV). Regular oscillations have been observed, best evidenced in the first derivative of the energy-weighted excitation function. For the first time, quite different behaviors (the appearance of oscillations and the trend of sub-barrier cross sections) have been reproduced within the same theoretical frame, i.e., the coupled-channel model using the shallow M3Y+repulsion potential. The calculations suggest that channel couplings play an important role in the appearance of the oscillations, and that the simple relation between a peak in the derivative of the energy-weighted cross section and the height of a centrifugal barrier is lost, and so is the interpretation of the second derivative of the excitation function as a barrier distribution for this system, at energies above the Coulomb barrier.Comment: submitted to Physics Letters

Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

Growing evidence suggests that human gene annotation remains incomplete; however, it is unclear how this affects different tissues and our understanding of different disorders. Here, we detect previously unannotated transcription from Genotype-Tissue Expression RNA sequencing data across 41 human tissues. We connect this unannotated transcription to known genes, confirming that human gene annotation remains incomplete, even among well-studied genes including 63% of the Online Mendelian Inheritance in Man–morbid catalog and 317 neurodegeneration-associated genes. We find the greatest abundance of unannotated transcription in brain and genes highly expressed in brain are more likely to be reannotated. We explore examples of reannotated disease genes, such as SNCA, for which we experimentally validate a previously unidentified, brain-specific, potentially protein-coding exon. We release all tissue-specific transcriptomes through vizER: http://rytenlab.com/browser/app/vizER. We anticipate that this resource will facilitate more accurate genetic analysis, with the greatest impact on our understanding of Mendelian and complex neurogenetic disorders

Rochechouart 2017-Drilling Campaign: First Results

No abstract available

Fermentation of Arabinoxylan-Oligosaccharides, Oligofructose and their Monomeric Sugars by Hindgut Bacteria from Siberian Sturgeon and African Catfish in Batch Culture in vitro

The in vitro fermentation of two Non-Digestible Oligosaccharide (NDO) preparations, Arabinoxylan- Oligosaccharides (AXOS) and Oligofructose (OF), and their respective monomeric sugars, xylose and fructose, were investigated by hindgut microbiota of two major aquaculture fish species, Siberian sturgeon (Acipenser baerii) and African catfish (Clarias gariepinus). Inocula from the hindgut of both fish species were incubated for 48 h in bottles containing 1.0% of one of four substrates, i.e. AXOS, OF, xylose or fructose. Amounts and profiles of produced Short-Chain Fatty Acids (SCFAs) differed between the two fish species and substrates. The hindgut microbiota of Siberian sturgeon has a higher fermentation capacity than the microbiota from African catfish. Xylose was much easier fermented than AXOS by microbiota from Siberian sturgeon whereas OF was quicker fermented than fructose with African catfish inoculum. The SCFAs were dominated by acetic acid for both fish species and for all substrates. Fermentation of OF and fructose by hindgut microbiota of Siberian sturgeon also yielded high amounts of butyric and branched-chain fatty acids after 48 h incubation. Results of this study suggest that AXOS, OF, and their monomeric sugars have an impact on microbial fermentation activity of hindgut microbiota from Siberian sturgeon and African catfish in a substrate and species dependent manner

Fusion of 28Si + 28Si: oscillations above the barrier and the behavior down to 1μb

Fusion excitation functions of light heavy-ion systems show oscillatory structures above the Coulomb barrier, caused by resonances or due to the penetration of successive centrifugal barriers well separated in energy. In heavier systems, the amplitude of oscillations decreases and the peaks get nearer to each other. This makes the measurements very challenging. We have performed a first experiment for 28Si + 28Si, by measuring fusion cross sections (σ) in an energy range of ≃15 MeV above the barrier, with a small ΔElab = 0.5 MeV step. Three regular oscillations are clearly observed, which are best revealed by plotting the energy-weighted derivative of the excitation function. The excitation function has been recently measured down to cross sections ≤1μb with larger energy steps. Coupled-channel (CC) calculations based on a shallow potential in the entrance channel are able to reproduce the oscillations. A further analysis will provide a stringent test for the calculations, in particular for the choice of the ion-ion potential, because the subbarrier excitation function has to be reproduced as well. Coupled-channel (CC) calculations based on a shallow potential in the entrance channel are able to reproduce the oscillations. A further analysis will provide a stringent test for the calculations, in particular for the choice of the ion-ion potential, because the subbarrier excitation function has to be reproduced as well

Restricted Application of Insecticides: A Promising Tsetse Control Technique, but What Do the Farmers Think of It?

Restricted application of insecticides to cattle is a cheap and safe farmer-based method to control tsetse and the diseases they transmit, i.e. human and animal African trypanosomoses. The efficiency of this new control method has been demonstrated earlier but no data is available on its perception and adoption intensity by farmers. We studied these two features in Burkina Faso, where the method has diffused thanks to two development projects. The study allowed identifying three groups of farmers with various adoption intensities, of which one was modern and two traditional. The economic benefit and the farmers' knowledge of the epidemiological system appeared to have a low impact on the early adoption process whereas some modern practices, as well as social factors appeared critical. The quality of technical support provided to the farmers had also a great influence on the adoption rate. The study highlighted individual variations in risk perceptions and benefits, as well as the prominent role of the socio-technical network of cattle farmers. The results of the study are discussed to highlight the factors that should be taken into consideration, to move discoveries from bench to field for an improved control of trypanosomoses vectors

Herschel measurements of the D/H and 16O/18O ratios in water in the Oort-cloud comet C/2009 P1 (Garradd)

The D/H ratio in cometary water is believed to be an important indicator of the conditions under which icy planetesimals formed and can provide clues to the contribution of comets to the delivery of water and other volatiles to Earth. Available measurements suggest that there is isotopic diversity in the comet population. The Herschel Space Observatory revealed an ocean-like ratio in the Jupiter-family comet 103P/Hartley 2, whereas most values measured in Oort-cloud comets are twice as high as the ocean D/H ratio. We present here a new measurement of the D/H ratio in the water of an Oort-cloud comet. HDO, H_2O, and H_2^18O lines were observed with high signal-to-noise ratio in comet C/2009 P1 (Garradd) using the Herschel HIFI instrument. Spectral maps of two water lines were obtained to constrain the water excitation. The D/H ratio derived from the measured H_2^16O and HDO production rates is 2.06+/-0.22 X 10**-4. This result shows that the D/H in the water of Oort-cloud comets is not as high as previously thought, at least for a fraction of the population, hence the paradigm of a single, archetypal D/H ratio for all Oort-cloud comets is no longer tenable. Nevertheless, the value measured in C/2009 P1 (Garradd) is significantly higher than the Earth's ocean value of 1.558 X 10**-4. The measured H_2^16O/H_2^18O ratio of 523+/-32 is, however, consistent with the terrestrial value.Comment: 6 pages with 4 figures and 1 table. Accepted for publication as a Letter in Astronomy & Astrophysic