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Hypertrophic cardiomyopathy is an autosomal dominant hereditary disease characterised by left ventricular asymmetry hypertrophy. However, our knowledge of the genetic background in hypertrophic cardiomyopathy cases is limited. Here, we aimed to evaluate pathogenic gene mutations in a family with high-risk hypertrophic cardiomyopathy and analyse the genotype/phenotype relationships in this family.
The proband, her parents, and her niece underwent whole-exome sequencing, and the genotypes of family members were identified using Sanger sequencing. mRNA expression was detected using reverse transcription sequencing. Structural impairments were predicted by homologous modelling. A family survey was conducted for patients with positive results to obtain information on general clinical symptoms, electrocardiography, ambulatory electrocardiography, echocardiography, and 3.0T cardiac magnetic resonance findings. Regular follow-up was performed for up to 6 months.
Five family members, including the proband, carried a cleavage site mutation in the MYBPC3 gene (c.2737+1 (IVS26) G>T), causing exon 26 of the MYBPC3 gene transcript to be skipped and leading to truncation of cardiac myosin-binding protein C. Family survey showed that the earliest onset age was 13 years old, and three people had died suddenly at less than 40 years old. Three pathogenic gene carriers were diagnosed with hypertrophic cardiomyopathy, and all showed severe ventricular septal hypertrophy.
The c.2737+1 (IVS26) G>T mutation in the MYBPC3 gene led to exon 26 skipping, thereby affecting the structure and function of cardiac myosin-binding protein C and leading to severe ventricular hypertrophy and sudden death.
Improving the production traits and resistance against mastitis in dairy cattle is a challenge for animal scientists across the globe. The present study was designed to investigate the genetic effects of single nucleotide polymorphisms (SNPs) in Janus kinase 2 (JAK2) and diacylglycerol acyltransferase (DGAT1) genes with production and mastitis-related traits. Four SNPs in JAK2 and one in DGAT1 were analyzed through Chinese Cow's SNPs Chip-I (CCSC-I) and genotyped in a population of 312 Chinese Holsteins. Our findings demonstrated that milk fat percentage, somatic cell count (SCC), somatic cell score (SCS), serum cytokines interleukin 6 (IL-6) and interferon gamma (IFN-γ) showed significant associations (P < 0.05) with at least one or more identified SNPs. Consequently, the analysis based on haplotypes amongst the SNPs in JAK2 revealed noteworthy (P < 0.05) association with SCC and IL-6. Collectively, our results verified the pleiotropic ability of detected SNPs in bovine JAK2 and DGAT1 for milk fat percentage as well as mastitis-related traits. The significant SNPs in both the genes could serve as powerful genetic markers to minimize mastitis risk. In addition, besides SCC and SCS, the IFN-γ and IL-6 could also be used as indicators of improved genetic resistance against mastitis.
Risk factors and prevalence of pulmonary nontuberculous mycobacterial (NTM) diseases were retrospectively evaluated in 1208 suspected pulmonary TB patients seeking care at the Affiliated Hospital of Hangzhou Normal University between July 2018 and December 2018. Further analysis of 390 culture-positive cases demonstrated that 358 (358/390, 91.8%) were infected with Mycobacterium tuberculosis (MTB), 24 (24/390, 6.2%) with NTM and eight (8/390, 2.0%) with both MTB and NTM. M. intracellulare was the most prevalent NTM isolated (16/24, 66.7%), followed by M. abscessus (3/24), M. kansasii (2/24), M. avium (1/24), M. szulgai (1/24) and M. fortuitum (1/24). The difference between NTM and TB case rates for the ⩾65-year-old age group significantly exceeded the difference for the reference group (patients aged 25–44 years) (OR (95% CI): 4.63 (1.03–20.90)). Pulmonary NTM diseases incidence positively correlated with prior TB history (OR (95% CI): 12.92 (3.24–31.82)). Moreover, pulmonary NTM patients were significantly more likely to exhibit underlying bronchiectasis than pulmonary TB patients (OR (95% CI): 18.89 (7.54–47.88)). In conclusion, approximately one-tenth of culture-positive suspected pulmonary TB patients are infected with NTM (most frequently M. intracellulare) in Zhejiang Province, China. The elderly and those with bronchiectasis or a history of TB are at the greatest risk of contracting pulmonary NTM disease.
The dipeptide DL-methionyl-DL-Methionine (Met-Met) has extremely low water solubility and better absorption than other methionine sources (such as DL-methionine and L-methionine) available in the market. Therefore, six diets (D1, D2, D3, D4, D5 and D6) containing 0 %, 0.07%, 0.15%, 0.21%, 0.28% and 0.38% Met-Met were formulated to investigate the effects of Met-Met on Oreochromis niloticus. The results indicated that percent weight gain and specific growth rate of fish fed with D2 and D3 diets were higher than those fed with D1, D4-D6 diets. The levels of total essential amino acid in whole body of fish fed with D3 and D4 diets were significantly higher than those fed the D1 diet. Superoxide dismutase activity and malondialdehyde content were no significant difference in fed the diet with or without Met-Met supplementation. Majority of reads derived from the fish intestines belonged to members of Fusobacteria, followed by Bacteroidetes, Proteobacteria. Diversity of intestinal microbiota and total antioxidant capacity in fish fed with D3 diet was significantly higher than that of other groups. Since due to the growth results the authors conclude the optimal proportion of Met was 0.61%, and the addition of Met-Met was 0.15% in O. niloticus.
As a wide-reaching institutional reform, China's fiscal decentralization was launched in the early 1980s to encourage provincial economic growth by granting more financial autonomy to provincial governments. In this paper, the impact of fiscal decentralization on China's environmental quality is investigated both theoretically and empirically. A neoclassical model is developed based on the primary characteristics of China's fiscal decentralization. Using provincial panel data for the period 1995-2015, a two-equation regression model is employed to empirically verify the three propositions of the theoretical model: (1) there exists an inverted-U shaped relationship between fiscal decentralization and GDP per capita; (2) fiscal decentralization is positively related to GDP per capita at the steady state; (3) there is an inverted-U shaped Environmental Kuznets Curve relationship between pollution emissions and economic growth.
High inductive helical support provides a solution to controlling the alignment error of inner electrodes in magnetically insulated transmission lines (MITLs). Three-dimensional particle-in-cell simulations were performed to examine the current loss mechanism and the effects of structural parameters on electron flow in an MITL with a helical inductor. An empirical expression related to the ratio of electron current loss to anode current and the ratio of anode current to self-limited current was obtained. Electron current loss caused by helical inductor with different structures was displayed. The results indicate that the current loss in an MITL, near an inductive helical support, comprises both the inductor current and the electron current loss. The non-uniform structure and current of a helical inductor cause an abrupt change in the magnetic field near the helical support, which leads to anomalous behavior and current loss of electron flow. In addition, current loss in the inductive helical-supported MITL is negligible when the inductance of the support is sufficiently high. This work facilitates the estimation of electron current loss caused by the inductive helical support in MITLs.
Echinococcus granulosus sensu stricto (s.s.), Echinococcus multilocularis and Echinococcus canadensis are the common causes of human echinococcosis in China. An accurate species identification tool for human echinococcosis is needed as the treatments and prognosis are different among species. The present work demonstrates a method for the simultaneous detection of these three Echinococcus species based on multiplex polymerase chain reaction (mPCR). Specific primers of this mPCR were designed based on the mitochondrial genes and determined by extensive tests. The method can successfully detect either separated or mixed target species, and generate expected amplicons of distinct size for each species. Sensitivity of the method was tested by serially diluted DNA, showing a detection threshold as less as 0.32 pg for both E. granulosus s.s. and E. canadensis, and 1.6 pg for E. multilocularis. Specificity assessed against 18 other parasites was found to be 100% except weakly cross-react with E. shiquicus. The assay was additionally applied to 69 echinococcosis patients and 38 healthy persons, confirming the high reliability of the method. Thus, the mPCR described here has high application potential for clinical identification purposes, and can further provide a useful tool for evaluation of serology and imaging method.
Asia Minor bluegrass (Polypogon fugax Nees ex Steud.) is a problem grass weed of winter crops in China, where a population has become resistant to aryloxyphenoxypropionate (APP) herbicides. The mechanism of resistance is due to an Ile-2041-Asn mutation of the ACCase gene. Screen house experiments were conducted to study the growth, fecundity characteristics, and competitive ability of this aryloxyphenoxypropionate-resistant (APP-R) biotype compared with a susceptible (APP-S) biotype. When grown under noncompetitive conditions, the APP-R P. fugax developed more rapidly than the APP-S plants, with earlier tiller and panicle emergence and seed shedding; the APP-R P. fugax set seeds nearly 12 d earlier than the APP-S biotype. APP-R and APP-S biotypes had similar aboveground dry weight before the flowering stage. Fecundity of the APP-R biotype was similar to the APP-S biotype (8.57 g seeds plant−1 and 0.17 g seeds panicle−1 versus 8.22 g seeds plant−1 and 0.13 g seeds panicle−1, respectively). Ultimately, the relatively slower-developing APP-S P. fugax had 50% more shoot dry weight than the APP-R plants. Relative competitiveness among the APP-R and APP-S P. fugax biotypes was investigated through replacement series experiments. No difference in competitive ability was measured between APP-R and APP-S biotypes on the basis of shoot dry weight before the tillering stage. These results indicate that there is no apparent fitness penalty for the APP-R P. fugax. The shorter growth cycle of APP-R with no apparent fitness penalty suggests that growers will need begin weed control earlier and possibly include vegetative crops with an even shorter growth cycle in their rotations.
In this study, a data-driven method for the construction of a reduced-order model (ROM) for complex flows is proposed. The method uses the proper orthogonal decomposition (POD) modes as the orthogonal basis and the dynamic mode decomposition method to obtain linear equations for the temporal evolution coefficients of the modes. This method eliminates the need for the governing equations of the flows involved, and therefore saves the effort of deriving the projected equations and proving their consistency, convergence and stability, as required by the conventional Galerkin projection method, which has been successfully applied to incompressible flows but is hard to extend to compressible flows. Using a sparsity-promoting algorithm, the dimensionality of the ROM is further reduced to a minimum. The ROMs of the natural and bypass transitions of supersonic boundary layers at
are constructed by the proposed data-driven method. The temporal evolution of the POD modes shows good agreement with that obtained by direct numerical simulations in both cases.
The research of high-performance flexible supercapacitors is urgent due to the rapid development of wearable and portable electronics. The key challenge is the preparation of flexible electrodes with high areal capacitance since electrodes are the most important part of supercapacitors. Compared to those conventional electrodes loading with typical flexible substrates such as textile, PET, paper et al, free-standing electrodes have many advantages such as more efficient capacity contribution, solidly embedded active materials and thinner thickness. Herein, we have successfully fabricated a novel sandwich-like structure free-standing MoO3-rGO (reduced graphene oxide) composite film electrode for flexible supercapacitors using simple vacuum filtration method followed by HI reduction process. The obtained MoO3-rGO composite film electrode shows excellent electrochemical performance, whose areal specific capacitance reaches 8972 mF·cm-2 (1.5 mA·cm-2). Here, MoO3 provides pseudocapacitance and rGO provides double-layer capacitance. After cycling for 2000 cycles, the capacity retention is 86.7%, showing good cycle stability. Besides, the as-prepared composite film has good flexibility and will not break easily during following bending, rolling, folding or twisting steps. This study has been approved to be an important step for the high-performance electrode design for free-standing flexible supercapacitors.
Geochronological, major and trace element, and Sr–Nd–Hf isotopic data are reported for the monzonitic rocks of the Fushan pluton in the Taihang Mountains, central North China Craton, in order to investigate their sources, petrogenesis and tectonic implications. Zircon U–Pb dating results reveal that the Fushan pluton was emplaced during the Early Cretaceous (∼126–124 Ma). The monzonites and quartz monzonites are mainly characterized by calc-alkaline and magnesian features and display light rare earth element (LREE) enrichment and flat heavy REE (HREE) patterns with slightly positive Eu anomalies. They have similar whole-rock initial 87Sr/86Sr ratios (0.70653–0.70819), εNd(t) values (−13.6 to −18.6) and zircon εHf(t) values (−21.8 to −17.3). The primary magma of the Fushan pluton was derived from the partial melting of a spinel-facies amphibole-bearing ancient enriched lithospheric mantle. The monzonitic rocks also have high Ba–Sr and low Y and Yb contents, with high Sr/Y and La/Yb ratios. These geochemical features of monzonitic rocks are not only inherited from the magma source but also significantly enhanced by crystal fractionation during magmatic evolution; e.g. hornblende fractionation increased the Ba–Sr concentrations and Sr/Y ratios. During the Early Cretaceous, the slab sinking and roll-back of the Palaeo-Pacific Plate could have created an ancient big mantle wedge beneath East Asia and induced a lithospheric extensional process in the central North China Craton within an intracontinental setting.
Two longitudinal studies have shown that depressive symptoms in women with eating disorders might improve in the antenatal and early postnatal periods. No study has followed up women beyond 8 months postnatal.
To investigate long-term trajectories of depressive symptoms in mothers with lifetime self-reported eating disorders.
Using data from the Avon Longitudinal Study of Parents and Children and multilevel growth curves we modelled trajectories of depressive symptoms from the 18th week of pregnancy to 18 years postnatal in women with lifetime self-reported anorexia nervosa, bulimia nervosa or both anorexia and bulimia nervosa. As sensitivity analyses we also investigated these trajectories using quintiles of a continuous measure of body image in pregnancy.
Of the 9276 women in our main sample, 126 (1.4%) reported a lifetime diagnosis of anorexia nervosa, 153 (1.6%) of bulimia nervosa and 60 (0.6%) of both anorexia and bulimia nervosa. Women with lifetime eating disorders had greater depressive symptoms scores than women with no eating disorders, before and after adjustment for confounders (anorexia nervosa: 2.10, 95% CI 1.36–2.83; bulimia nervosa: 2.28, 95% CI: 1.61–2.94, both anorexia and bulimia nervosa: 2.86, 95% CI 1.81–3.90). We also observed a dose–response association between greater body image and eating concerns in pregnancy and more severe trajectories of depressive symptoms, even after adjusting for lifetime eating disorders which also remained independently associated with greater depressive symptoms.
Women with eating disorders experience persistently greater depressive symptoms across the life-course. More training for practitioners and midwives on how to recognise eating disorders in pregnancy could help to identify depressive symptoms and reduce the long-term burden of disease resulting from this comorbidity.
AlMgB14–TiB2 ceramic was successfully brazed to TC4 alloy with inactive AgCu filler alloy. X-ray diffractometer, SEM, and energy-dispersive spectrometer were used to study interfacial microstructure and shear strength of the joints under different brazing temperatures. The results indicated that the typical microstructure of the TC4/AlMgB14–TiB2 joint was TC4/Ti(s.s) + Ti2Cu/Ti2Cu/TiCu/TiCu2Al/Ag(s.s) + Cu(s.s)/TiB whiskers/TiB2 reaction layer/AMBT. By increasing the brazing temperature, the thickness of the TC4 diffusion layer was improved, whereas that of the brazing seam decreased remarkably. When the brazing temperature was increased to 880 °C, the brazing seam was composed of Ti–Cu intermetallic Ag(s.s) with a few Cu(s.s), TiCu2Al distributed. Meanwhile, the formation of a continuous TiB2 reaction layer at the interface of the AMBT and brazing filler facilitated the improvement of joint shear strength. The joint with the maximum shear strength of 46.7 MPa was obtained while brazing at 880 °C for 10 min.
Maternal one-carbon metabolism during pregnancy is crucial for fetal development and programming by DNA methylation. However, evidence on one-carbon biomarkers other than folate is lacking. We, therefore, investigated whether maternal plasma methyl donors, that is, choline, betaine and methionine, are associated with birth outcomes. Blood samples were obtained from 115 women during gestation (median 26·3 weeks, 90 % range 22·7–33·0 weeks). Plasma choline, betaine, methionine and dimethylglycine were measured using HPLC-tandem MS. Multivariate linear and logistic regression models were used to estimate the association between plasma biomarkers and birth weight, birth length, the risk of small-for-gestational-age and large-for-gestational-age (LGA). Higher level of maternal betaine was associated with lower birth weight (–130·3 (95 % CI –244·8, –15·9) per 1 sd increment for log-transformed betaine). Higher maternal methionine was associated with lower risk of LGA, and adjusted OR, with 95 % CI for 1 sd increase in methionine concentration was 0·44 (95 % CI 0·21, 0·89). Stratified analyses according to infant sex or maternal plasma homocysteine status showed that reduction in birth weight in relation to maternal betaine was only limited to male infants or to who had higher maternal homocysteine status (≥5·1 µmol/l). Higher maternal betaine status was associated with reduced birth weight. Maternal methionine was inversely associated with LGA risk. These findings are needed to be replicated in future larger studies.
The output performances of a bidirectional ring amplifier with twin pulses are demonstrated. Compared to the extraction efficiency of 32% for single-pulse injection, the extraction efficiency of stored energy for twin-pulse injection with bidirectional propagation is increased to 60%. The maximum output energies of the twin pulses are 347 mJ and 351 mJ, and the output energy of a single pulse is only 373 mJ under the same amplifier operating conditions. The experimental results show that the bidirectional ring amplifier with twin pulses can achieve a higher extraction efficiency of stored energy at a lower operating fluence, and has potential applications in high-power and high-energy laser facilities.
Composite materials include various components with different structures, which cooperatively increase their properties and extend their application. In this study, the graphitic carbon nitride (g-C3N4) guest material was assembled into the porous of the SiO2 aerogel, which was prepared during the gel process. By this way, the g-C3N4 could be absolutely encapsulated into the porous of the disordered porous SiO2 aerogel. The prepared g-C3N4/SiO2 composite had a loose porous structure and exhibited the much higher photocatalytic activity to the photodegradation of rhodamine B (RhB) under visible light. The disordered porous structure enhanced photocatalytic activity, and the degradation rate reached to 96.42% in 90 min under the irradiation of visible light, which could be attributed to its high surface area and effective electron–hole separation rate. The catalyst had the much higher stability and could be easily recycled utilization. The prepared composites could be applied to degrade organic pollutants in wastewater.
Although it is crucial to improve the treatment status of people with severe mental illness (SMI), it is still unknown whether and how socioeconomic development influences their treatment status.
To explore the change in treatment status in people with SMI from 1994 to 2015 in rural China and to examine the factors influencing treatment status in those with SMI.
Two mental health surveys using identical methods and ICD-10 were conducted in 1994 and 2015 (population ≥15 years old, n = 152 776) in the same six townships of Xinjin County, Chengdu, China.
Compared with 1994, individuals with SMI in 2015 had significantly higher rates of poor family economic status, fewer family caregivers, longer duration of illness, later age at first onset and poor mental status. Participants in 2015 had significantly higher rates of never being treated, taking antipsychotic drugs and ever being admitted to hospital, and lower rates of using traditional Chinese medicine or being treated by traditional/spiritual healers. The factors strongly associated with never being treated included worse mental status (symptoms/social functioning), older age, having no family caregivers and poor family economic status.
Socioeconomic development influences the treatment status of people with SMI in contemporary rural China. Relative poverty, having no family caregivers and older age are important factors associated with a worse treatment status. Culture-specific, community-based interventions and targeted poverty-alleviation programmes should be developed to improve the early identification, treatment and recovery of individuals with SMI in rural China.
Clozapine treatment increases the risk of agranulocytosis, but findings on the epidemiology of agranulocytosis have been inconsistent. This meta-analysis examined the prevalence of agranulocytosis and related death in clozapine-treated patients.
A literature search in the international (PubMed, PsycINFO, and EMBASE) and Chinese (WanFang, Chinese National Knowledge Infrastructure, and Sinomed) databases was conducted. Prevalence estimates of agranulocytosis and related death in clozapine-treated patients were synthesized with the Comprehensive Meta-Analysis program using the random-effects model.
Thirty-six studies with 260 948 clozapine-treated patients published between 1984 and 2018 were included in the meta-analysis. The overall prevalence of agranulocytosis and death caused by agranulocytosis were 0.4% (95% CI 0.3–0.6%) and 0.05% (95% CI 0.03–0.09%), respectively. The prevalence of agranulocytosis was moderated by sample size, study quality, year of publication, and that of data collection.
The prevalence of clozapine-associated agranulocytosis is low. Agranulocytosis-related death appears rare.