78,462 research outputs found

    Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report

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    Background: Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (115G-L-W117) motif in the first extracellular segment (ESC1) of claudin 16 might be essential for stabilization of the appropriately folded ECS1 structure and conservation of normal claudin 16 function. However, neither missense nor nonsense mutation has ever been described in this motif. Our study aimed at identifying mutations in a Chinese patient with FHHNC and exploring the association between genotype and phenotype. Case presentation: A 33-year-old female presented with 4 years history of recurrent acute pyelonephritis without other notable past medical history. Her healthy parents, who aged 56 and 53 respectively, were second cousins, and her only sibling died from renal failure without definite cause at age 25. Renal ultrasound imaging demonstrated atrophic kidneys and bilateral nephrocalcinosis. The laboratory workup revealed impaired renal function (Stage CKD IV), hypocalcemia and mild hypomagnesemia, accompanied with marked renal loss of magnesium and hypercalciuria. During the follow-up, treatment with calcitriol and calcium but not with magnesium was difficult to achieve normal serum calcium levels, whereas her serum magnesium concentration fluctuated within normal ranges. In the end, the patient unavoidably reached ESRD at 36 years old. The clinical features and family history suggested the diagnosis of FHHNC. To make a definite diagnosis, we use whole-exome sequencing to identify the disease-causing mutations and Sanger sequencing to confirm the mutation co-segregation in the family. As a result, a novel homozygous mutation (c.346C > G, p.Leu116Val) in115G-L-W117motif of claudin 16 was identified. Her parents, grandmother and one of her cousins carried heterozygous p.Leu116Val, whereas 200 unrelated controls did not carry this mutation. Conclusions: We described a delayed diagnosis patient with FHHNC in the Chinese population and identified a novel missense mutation in the highly conserved115G-L-W117motif of claudin 16 for the first time. According to the reported data and the information deduced from 3D modeling, we speculate that this mutation probably reserve partial residual function which might be related to the slight phenotype of the patient

    Erosion-induced massive organic carbon burial and carbon emission in the Yellow River basin, China

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    Soil erosion and terrestrial deposition of soil organic carbon (SOC) can potentially play a significant role in global carbon cycling. Assessing the redistribution of SOC during erosion and subsequent transport and burial is of critical importance. Using hydrological records of soil erosion and sediment load, and compiled organic carbon (OC) data, estimates of the eroded soils and OC induced by water in the Yellow River basin during the period 1950–2010 were assembled. The Yellow River basin has experienced intense soil erosion due to combined impact of natural process and human activity. Over the period, 134.2 ± 24.7 Gt of soils and 1.07 ± 0.15 Gt of OC have been eroded from hillslopes based on a soil erosion rate of 1.7–2.5 Gt yr<sup>−1</sup>. Approximately 63% of the eroded soils were deposited in the river system, while only 37% were discharged into the ocean. For the OC budget, approximately 0.53 ± 0.21 Gt (49.5%) was buried in the river system, 0.25 ± 0.14 Gt (23.5%) was delivered into the ocean, and the remaining 0.289 ± 0.294 Gt (27%) was decomposed during the erosion and transport processes. This validates the commonly held assumption that 20–40% of the eroded OC would be oxidized after erosion. Erosion-induced OC redistribution on the landscape likely represented a carbon source, although a large proportion of OC was buried. In addition, about half of the terrestrially redeposited OC (49.4%) was buried behind dams, revealing the importance of dam trapping in sequestering the eroded OC. Although several uncertainties need to be better constrained, the obtained budgetary results provide a means of assessing the redistribution of the eroded OC within the Yellow River basin. Human activities have significantly altered its redistribution pattern over the past decades

    Pulsar Glitches in a Strangeon Star Model

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    Pulsar-like compact stars provide us a unique laboratory to explore properties of dense matter at supra-nuclear densities. One of the models for pulsar-like stars is that they are totally composed of "strangeons", and in this paper we studied the pulsar glitches in a strangeon star model. Strangeon stars would be solidified during cooling, and the solid stars would be natural to have glitches as the result of starquakes. Based on the starquake model established before, we proposed that when the starquake occurs, the inner motion of the star which changes the moment of inertia and has impact on the glitch sizes, is divided into plastic flow and elastic motion. The plastic flow which is induced in the fractured part of the outer layer, would move tangentially to redistribute the matter of the star and would be hard to recover. The elastic motion, on the other hand, changes its shape and would recover significantly. Under this scenario, we could understand the behaviors of glitches without significant energy releasing, including the Crab and the Vela pulsars, in an uniform model. We derive the recovery coefficient as a function of glitch size, as well as the time interval between two successive glitches as the function of the released stress. Our results show consistency with observational data under reasonable ranges of parameters. The implications on the oblateness of the Crab and the Vela pulsars are discussed.Comment: MNRAS, accepte

    The prevalence of insomnia in the general population in China: A meta-analysis

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    This is the first meta-analysis of the pooled prevalence of insomnia in the general population of China. A systematic literature search was conducted via the following databases: PubMed, PsycINFO, EMBASE and Chinese databases (China National Knowledge Interne (CNKI), WanFang Data and SinoMed). Statistical analyses were performed using the Comprehensive Meta-Analysis program. A total of 17 studies with 115,988 participants met the inclusion criteria for the analysis. The pooled prevalence of insomnia in China was 15.0% (95% Confidence interval [CI]: 12.1%-18.5%). No significant difference was found in the prevalence between genders or across time period. The pooled prevalence of insomnia in population with a mean age of 43.7 years and older (11.6%; 95% CI: 7.5%-17.6%) was significantly lower than in those with a mean age younger than 43.7 years (20.4%; 95% CI: 14.2%-28.2%). The prevalence of insomnia was significantly affected by the type of assessment tools (Q = 14.1, P = 0.001). The general population prevalence of insomnia in China is lower than those reported in Western countries but similar to those in Asian countries. Younger Chinese adults appear to suffer from more insomnia than older adults

    Fe-doping induced superconductivity in charge-density-wave system 1T-TaS2

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    We report the interplay between charge-density-wave (CDW) and superconductivity of 1TT-Fex_{x}Ta1x_{1-x}S2_{2} (0x0.050\leq x \leq 0.05) single crystals. The CDW order is gradually suppressed by Fe-doping, accompanied by the disappearance of pseudogap/Mott-gap as shown by the density functional theory (DFT) calculations. The superconducting state develops at low temperatures within the CDW state for the samples with the moderate doping levels. The superconductivity strongly depends on xx within a narrow range, and the maximum superconducting transition temperature is 2.8 K as x=0.02x=0.02. We propose that the induced superconductivity and CDW phases are separated in real space. For high doping level (x>0.04x>0.04), the Anderson localization (AL) state appears, resulting in a large increase of resistivity. We present a complete electronic phase diagram of 1TT-Fex_{x}Ta1x_{1-x}S2_{2} system that shows a dome-like Tc(x)T_{c}(x)
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