A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing:An indication of primary immunodeficiency

Objective:To investigate immune-related genetic background in bilateral sudden sensorineural hearing loss (SSNHL). Case report and methods: The case is a 45-year-old man presenting with a 7-year history of bilateral profound SSNHL. Blood biochemical testing demonstrated increased levels of total cholesterol (5.88 mmol/L). Tests for hepatitis B showed a positive antibody against the hepatitis B core antigen. Complement C3 was below the normal value, and complement C4 and IgG were in the lower range of normal values. CT images showed a normal inner ear and vestibular aqueduct but round window membranous ossification on both sides. A total number of 232 immune-associated genes were sequenced using the next generation sequencing technique. Results: Mutations were detected in 5 genes, including the phosphoinositide 3-kinase catalytic subunit delta (PIK3CD), caspase recruitment domain-containing protein 9 (CARD9), complement factor H-related (CFHR2), immunoglobulin lambda-like polypeptide 1 Protein (IGLL1), and transmembrane channel-like gene family 8 (TMC8). In the PIK3CD gene, a C896T substitute in exon 7 was detected. This mutation causes primary immunodeficiency and is an autosomal dominant disease. Conclusion: The PIK3CD C896T mutation responsible for primary immunodeficiency may contribute to the onset of bilateral SSNHL with subsequent rapid progression.

Transient synchronous stability analysis and enhancement control strategy of a PLL-based VSC system during asymmetric grid faults

The stability of a voltage source converters(VSC)system based on phase-locked loop(PLL)is very important issue during asymmetric grid faults.This paper establishes a transient synchronous stability model of a dual-sequence PLL-based VSC system during low voltage ride-through by referring to the equivalent rotor swing equation of syn-chronous generators.Based on the model,the synchronization characteristics of the VSC system under asymmetric grid faults are described,and the interaction mechanisms,as well as the transient instability phenomena of positive and negative sequence PLL during asymmetric faults are explained.Using the equal area criterion,the influences of sequence control switching action,detection delay,and interaction between the positive and negative sequence PLL on the transient synchronous stability of the VSC system are analyzed,respectively.In addition,a transient stabil-ity assessment criterion based on the critical fault clearance angle and time and an enhancement control strategy based on the improved positive and negative sequence PLL are proposed.Finally,the analytical results are validated through simulation and experiments.

Metal release/accumulation during the decomposition of Potamogeton crispus in a shallow macrophytic lake

Changes in metal concentrations in the litter of Potamogeton crispus were monitored during a consecutive 40-day in situ decomposition experiment using the litterbag method.The accumulation index was calculated and used to indicate the changes in the metals in litter.The results showed that the concentrations of Al,Cd,Cr,Fe,Mn,and Pb in litter increased significantly during the decomposition,while Cu and Zn concentrations decreased dramatically.Significant positive correlations were found between the concentrations of Al,Cr,Fe,and Mn and between Cu and Zn.Moreover,Cu and Zn both negatively correlated with Al and Fe.The remaining dry mass was negatively correlated with Al and Fe concentrations but positively correlated with Cu and Zn concentrations.Generally the accumulation index values of metals other than Al were less than one,indicating that the litter of P.crispus acted as a source of metals to the surrounding water body.Al was the only metal that showed continuous net accumulation in litter.The net accumulation of Fe and Mn in litter during the last 10 days of the experiment may indicate the precipitation of Feand Mn-oxides.It was estimated that 160 g/m^2（dry weight）P.crispus was decomposed in40 days.This was equivalent to releasing the following amounts of metals：0.01 mg Cd,0.03 mg Cr,0.71 mg Cu,0.55 mg Mn,0.02 mg Pb and 13.8 mg Zn into surrounding water,and accumulating 149 mg Al and 11 mg Fe,in a 1 m^2 area.

Understanding Miocene Climate Evolution in Northeastern Tibet: Stable Carbon and Oxygen Isotope Records from the Western Tianshui Basin, China

To investigate climate evolution during the Miocene, especially during the Middle Mio- cene climate transition on the northeastern Tibetan Plateau, stable oxygen and carbon isotopes of car- bonates from a 288-m-thick lacustrine-fluvial sediment sequence covering the period from 17.1 to 6.1 Ma from Tianshui Basin, China, were analyzed. The relatively low stable oxygen isotope values indicate the prevalence of wet climate conditions during the period of 17.1-13.6 Ma, an interval corresponding to the well-known Middle Miocene Climate Optimum. The interval between 13.6 and 11.0 Ma （i.e., the late Middle Miocene） is marked by a progressive increase in the δ18O values, indicative of a decrease in precipitation, probably linked to the expansion of the East Antarctic Ice Sheet and global cooling since about 14 Ma. The climate in the study area continued to get drier as shown by the enrichment of the heavy oxygen isotope from 11 Ma. We attribute these stepwise climatic changes as revealed by our car- bonate δ18Orecord from the northeastern Tibetan Plateau to the sustained global cooling that may have reduced moist transport to Central Asia, which in turn led to a permanent aridification.

Fine-grained rock fabric facies classification and its control on shale oil accumulation: a case study from the Paleogene Kong 2 Member, Bohai Bay Basin

Lacustrine shale oil resources in China are abundant,with remarkable exploration breakthroughs being achieved.Compared to marine shale oil in North America,efficient exploration of lacustrine shale oil is more difficult;thus,selecting favorable layer and optimization zone for horizontal wells is more important.In this study,based on systematic coring of approximately 500 m fine-grained deposits of the Kong 2 Member,combining laboratory tests and log data,source rock geochemistry and reservoir physical properties,the favorable rock fabric facies for oil accumulation was analyzed and classified.First,the dominant lithologic facies,organic facies,and bed combination facies were determined based on mineral composition from logging,total organic content(TOC),and sedimentary structure.Secondly,10 fabric facies were classified by combining these three facies,with 4 fabric facies were found to have high TOC content,high total hydrocarbon,and strong fluorescence features,indicating good shale oil enrichment.Thirdly,the distribution of the upon good fabric facies was identified to be located at the top of the Kong 2 Member,with evidences of seismic resistivity inversion,thermal maturity,structure depth,and strata thickness.And the favorable facies were found to be stably distributed lateral at the area of about 100 km2.High oil flow has been detected at this layer within this area by several wells,including horizontal wells.The exploratory study of fabric facies classification and evaluation provides a new research idea for lacustrine shale oil exploration and effectively promotes breakthroughs in lacustrine shale oil exploration in Bohai Bay Basin.