Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes

Background: Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians. To our knowledge, no genetic study has ever been conducted. Methods: We aim to identify genetic risk factors by a “trio-based” exome-sequencing approach, whereby 31 CDD probands and their unaffected parents were exome-sequenced. Seven-hundred controls from the local population were used to detect gene-sets significantly enriched with rare variants in CDD patients. Results: Twenty-one predicted damaging de novo variants (DNVs; 4 protein truncating and 17 missense) were identified in several evolutionarily constrained genes (p < 0.01). Six genes carrying DNVs were associated with human developmental disorders involving epithelial, connective or bone morphologies (PXDN, RTEL1, ANKRD11, MAP2K1, CYLD, ACAN) and four linked with cholangio- and hepatocellular carcinomas (PIK3CA, TLN1 CYLD, MAP2K1). Importantly, CDD patients have an excess of DNVs in cancer-related genes (p < 0.025). Thirteen genes were recurrently mutated at different sites, forming compound heterozygotes or functionally related complexes within patients. Conclusions: Our data supports a strong genetic basis for CDD and show that CDD is not only genetically heterogeneous but also non-monogenic, requiring mutations in more than one genes for the disease to develop. The data is consistent with the rarity and sporadic presentation of CDD

Vanishing Twist near Focus-Focus Points

We show that near a focus-focus point in a Liouville integrable Hamiltonian system with two degrees of freedom lines of locally constant rotation number in the image of the energy-momentum map are spirals determined by the eigenvalue of the equilibrium. From this representation of the rotation number we derive that the twist condition for the isoenergetic KAM condition vanishes on a curve in the image of the energy-momentum map that is transversal to the line of constant energy. In contrast to this we also show that the frequency map is non-degenerate for every point in a neighborhood of a focus-focus point.Comment: 13 page

Effects of High-Energy Electron Irradiation on Quantum Emitters in Hexagonal Boron Nitride

© 2018 American Chemical Society. Hexagonal boron nitride (hBN) mono and multilayers are promising hosts for room-temperature single photon emitters (SPEs). In this work we explore high-energy (∼MeV) electron irradiation as a means to generate stable SPEs in hBN. We investigate four types of exfoliated hBN flakes - namely, high-purity multilayers, isotopically pure hBN, carbon-rich hBN multilayers and monolayered material - and find that electron irradiation increases emitter concentrations dramatically in all samples. Furthermore, the engineered emitters are located throughout hBN flakes (not only at flake edges or grain boundaries) and do not require activation by high-temperature annealing of the host material after electron exposure. Our results provide important insights into controlled formation of hBN SPEs and may aid in identification of their crystallographic origin

S, T, U parameters in SU(3)C×SU(3)L×U(1)SU(3)_C\times SU(3)_L\times U(1) model with right-handed neutrinos

The S, T, U parameters in the $SU(3)_C\times SU(3)_L\times U(1)$ model with right -handed neutrinos are calculated. Explicit expressions for the oblique and Z - Z' mixing contributions are obtained. We show that the bilepton oblique contributions to S and T parameters are bounded : $- 0.085 \stackrel{<}{\sim} S \stackrel{<}{\sim} 0.05$ and $- 0.001 \stackrel{<}{\sim} T \stackrel{<}{\sim} 0.08$. The Z - Z' mixing contribution is positive and above 10%, but it will increase fastly with the higher Z' mass. %can be negative. The consequent mass splitting of the bilepton is derived and to be 15%. The limit on the mass of the neutral bilepton in this model is obtained.Comment: Latex, axodraw.sty used, 3 figures, 18 page

Seasonal variation of phytoplankton in My Thanh River, Mekong delta, Vietnam

A study on the seasonal variation of phytoplankton composition was conducted at the upper, middle, and lower parts of the My Thanh River, which supplies an important source of water for aquaculture. Qualitative and quantitative samples of phytoplankton were collected monthly at both high and low tide. The results showed that a total of 171 phytoplankton (algae) species were recorded, belonging to 59 genera and 5 phyla. Diatoms were the most abundant group with the highest species number, followed by green algae. The other phyla possessed a lower number of species. The species composition was more diverse in the rainy season and at high tide at most of the sampling sites. The mean density of algae varied from 30,900-43,521 ind.L^-1^. The density of diatoms was higher in the middle and lower parts. At the same time, euglenoids displayed the highest density in the upper part, showing a difference in the dominant algae group under the influence of salinity. Salinity was found to be significantly positively correlated (p<0.01) with diatoms, whereas it was negatively correlated (p<0.05) with blue-green algae and euglenoids. The algae composition was quite diverse, with the H' index ranging from 2.0-3.3, showing the water quality was slightly to moderately polluted