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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.
Maternal supraphysiological estradiol (E2) environment during pregnancy leads to adverse perinatal outcomes. However, the influence of oocyte exposure to high E2 levels on perinatal outcomes remains unknown. Thus, a retrospective cohort study was conducted to explore the effect of high E2 level induced by controlled ovarian stimulation (COH) on further outcomes after frozen embryo transfer (FET). The study included all FET cycles (n = 10,581) between 2014 and 2017. All cycles were categorized into three groups according to the E2 level on the day of the human Chorionic Gonadotropin trigger. Odds ratios (ORs) and their confidence intervals (CIs) were calculated to evaluate the association between E2 level during COH and pregnancy outcomes and subsequent neonatal outcomes. From our findings, higher E2 level was associated with lower percentage of chemical pregnancy, clinical pregnancy, ongoing pregnancy, and live birth as well as increased frequency of early miscarriage. Preterm births were more common among singletons in women with higher E2 level during COH (aOR1 = 1.93, 95% CI: 1.22–3.06; aOR2 = 2.05, 95% CI: 1.33–3.06). Incidence of small for gestational age (SGA) was more common in both singletons (aOR1 = 2.01, 95% CI: 1.30–3.11; aOR2 = 2.51, 95% CI: 1.69–3.74) and multiples (aOR1 = 1.58, 95% CI: 1.03–2.45; aOR2 = 1.99, 95% CI: 1.05–3.84) among women with relatively higher E2 level. No association was found between high E2 level during COH and the percentage of macrosomia or large for gestational age. In summary, oocyte exposure to high E2 level during COH should be brought to our attention, since the pregnancy rate decreasing and the risk of preterm birth and SGA increasing following FET.
Conventional alloy design based on a single primary element has reached its limits in terms of performance optimization. An alloy design strategy with multi-principal elements has recently been uncovered to overcome this bottleneck. Multicomponent alloys, generally referred to as high-entropy alloys (HEAs), exhibit many promising properties, especially outstanding mechanical performance at cryogenic, ambient, and elevated temperatures. In this article, we focus on precipitation-hardened HEAs, which are potential candidates for next-generation structural materials, especially at high temperatures. The key issues involved include precipitation behaviors, phase stability, and phase control, all of which provide useful guidelines for further development of high-temperature materials with superior performance. In particular, we address the formation of cellular γ′ precipitates at grain boundaries, which is closely related to the embrittlement of HEAs at intermediate temperatures. Critical issues and design strategies in developing HEAs for high-temperature applications are also discussed.
Direct determination of barrier height (ΦBH) value between Ir and single crystal (001) hydrogen-terminated diamond with lightly boron doped has been performed using x-ray photoelectron spectroscopy technique. 70 nm Ir islands were formed on hydrogen-terminated diamond surface using anodic aluminum oxide. The ΦBH value for Ir/hydrogen-terminated diamond was −0.43 ± 0.14 eV, indicating that Ir was a suitable metal for ohmic contact with hydrogen-terminated diamond. The band diagram of Ir/hydrogen-terminated diamond was obtained. The experimental ΦBH was compared with the theoretical ΦBH in this work.
In inertial confinement fusion experiments that involve short-laser pulses such as fast ignition (FI), diagnosis of neutrons is usually very challenging because high-intensity γ rays generated by short-laser pulses would mask the much weaker neutron signal. In this paper, fast-response scintillators with low afterglow and gated microchannel plate photomultiplier tubes are combined to build neutron time-of-flight (nTOF) spectrometers for such experiments. Direct-drive implosion experiments of deuterium-gas-filled capsules were performed at the Shenguang-II Upgrade (SG-II-UP) laser facility to study the compressed fuel areal density (〈ρR〉) and evaluate the performance of such nTOF diagnostics. Two newly developed quenched liquid scintillator detectors and a gated ultrafast plastic scintillator detector were used to measure the secondary DT neutrons and primary DD neutrons, respectively. The secondary neutron signals were clearly discriminated from the γ rays from (n, γ) reactions, and the compressed fuel areal density obtained with the yield-ratio method agrees well with the simulations. Additionally, a small scintillator decay tail and a clear DD neutron signal were observed in an integrated FI experiment as a result of the low afterglow of the oxygen-quenched liquid scintillator.
Familial monozygotic (MZ) twinning reports are rare around the world, and we report a four-generation pedigree with seven recorded pairs of female MZ twins. Whole-genome sequencing of seven family members was performed to explore the featured genetic factors in MZ twins. For variations specific to MZ twins, five novel variants were observed in the X chromosome. These candidates were used to explain the seemingly X-linked dominant inheritance pattern, and only one variant was exonic, located at the 5′UTR region of ZCCHC12 (chrX: 117958597, G > A). Besides, consistent mitochondrial DNA composition in the maternal linage precluded roles of mitochondria for this trait. In this pedigree, autosomes also contain diverse variations specific to MZ twins. Pathway analysis revealed a significant enrichment of genes carrying novel SNVs in the epithelial adherens junction-signaling pathway (p = .011), contributed by FGFR1, TUBB6, and MYH7B. Meanwhile, TBC1D22A, TRIOBP, and TUBB6, also carrying similar SNVs, were involved in the GTPase family-mediated signal pathway. Furthermore, gene-set enrichment analysis for 533 genes covered by copy number variations specific to MZ twins illustrated that the tight junction-signaling pathway was significantly enriched (p < .001). Therefore, the novel changes in the X chromosome and the provided candidate variants across autosomes may be responsible for MZ twinning, giving clues to increase our understanding about the underlying mechanism.
Northeastern China is a region of high tick abundance, multiple tick-borne pathogens and likely human infections. The spectrum of diseases caused by tick-borne pathogens has not been objectively evaluated in this region for clinical management and for comparison with other regions globally where tick-transmitted diseases are common. Based on clinical symptoms, PCR, indirect immunofluorescent assay and (or) blood smear, we identified and described tick-borne diseases from patients with recent tick bite seen at Mudanjiang Forestry Central Hospital. From May 2010 to September 2011, 42% (75/180) of patients were diagnosed with a specific tick-borne disease, including Lyme borreliosis, tick-borne encephalitis, human granulocytic anaplasmosis, human babesiosis and spotted fever group rickettsiosis. When we compared clinical and laboratory features to identify factors that might discriminate tick-transmitted infections from those lacking that evidence, we revealed that erythema migrans and neurological manifestations were statistically significantly differently presented between those with and without documented aetiologies (P < 0.001, P = 0.003). Twelve patients (6.7%, 12/180) were co-infected with two tick-borne pathogens. We demonstrated the poor ability of clinicians to identify the specific tick-borne disease. In addition, it is necessary to develop specific laboratory assays for optimal diagnosis of tick-borne diseases.
In this paper we consider new perturbation bounds analysis of a kind of generalized saddle point systems. We provide perturbation upper bounds for the solutions of generalized saddle point systems, which extend the corresponding results in [W.-W. Xu, W. Li, New perturbation analysis for generalized saddle point systems, Calcolo., 46(2009), pp. 25-36] to more general cases.
Human adenovirus type 55 (HAdV-55) has recently caused multiple outbreaks. This study examined polymorphisms in CD46 to determine their involvement in HAdV-55 infection.
A total of 214 study subjects infected with HAdV-55 were included in our study. The study subjects were divided into those with silent infections (n=91), minor infections (n=85), and severe infections (n=38). Ten single nucleotide polymorphisms (SNPs) from CD46 were examined.
Compared with the AA genotype, the TT genotype at rs2724385 (CD46, A/T) was associated with a protective effect against disease occurrence, with an odds ratio (95% confidence interval) of 0.20 (0.04-0.97) (P=0.038). There were no significant differences between the patients with minor and severe infection and those who had silent HAdV-55 infection in the other CD46 SNPs. We next compared the polymorphisms of these genes according to disease severity in HAdV-55-infected patients with clinical symptoms. The results showed that there were no significant differences between minor infections and severe infections.
Our results suggested that the CD46 SNP at rs2724385 is associated with the occurrence of disease in HAdV-55-infected patients. A much larger number of samples is required to understand the role of CD46 polymorphisms in the occurrence and progression of infection by HAdV-55. (Disaster Med Public Health Preparedness. 2018;12:427–430)
Results of the relationships between dietary whole-grain consumption and the risk of all-cause, CVD and cancer-specific mortality are mixed. We summarised the evidence based on a meta-analysis of prospective cohort studies. Pertinent studies were identified by searching articles in the MEDLINE and EMBASE databases up to 20 January 2016 and by reviewing the reference lists of the retrieved articles. Random-effects models were used to calculate summary relative risks (SRR) and 95 % CI. In all, eleven prospective studies (ten publications) were included in the meta-analysis. There were a total of 816 599 subjects and 89 251 cases of all-cause mortality. On the basis of the highest v. the lowest categories of intake, whole grains may be associated with a lower risk of mortality from all causes (SRR 0·87; 95 % CI 0·84, 0·90), CVD (SRR 0·81; 95 % CI 0·75, 0·89) and all cancers (SRR 0·89; 95 % CI 0·82, 0·96). For each 3 servings/d increase in whole-grain intake, there was a 19 % reduction in the risk of all-cause mortality (SRR 0·81; 95 % CI 0·76, 0·85), a 26 % reduction in CVD mortality (SRR 0·74; 95 % CI 0·66, 0·83) and a 9 % reduction in cancer mortality (SRR 0·91; 95 % CI 0·84, 0·98). The current meta-analysis provides some evidence that high intake of whole grains was inversely associated with the risk of all-cause, CVD and cancer-specific mortality. Further well-designed studies, including clinical trials and in different populations, are required to confirm our findings.
To determine dynamic changes in clinical characteristics by examining an outbreak of adenovirus infection that occurred from December 20, 2012, to February 25, 2013, in Tianjin, China.
Active surveillance for febrile respiratory illnesses was conducted, and medical records of patients were collected. Real-time quantitative polymerase chain reaction and sequencing were used for pathogen identification and viral genome study, respectively. Student’s t-test was used to compare the mean values of normally distributed continuous variables. Mann-Whitney U or Kruskal-Wallis tests were used if continuous variables were not normally distributed. Pearson’s chi-square test or Fisher’s exact test was used to compare categorical variables.
The outbreak was sourced from the index case diagnosed as the common cold on December 20, 2012; a total of 856 cases were reported in the following 66 days. The pathogen was identified as human adenovirus (HAdV) 55. The symptoms manifested differently in severe and mild cases. Routine blood examinations, liver function indexes, and heart function indexes showed different dynamic patterns over time in hospitalized patients.
Clinical characteristics and laboratory examinations may reveal unique patterns over the course of HAdV-55 infection. (Disaster Med Public Health Preparedness. 2018;12:464–469)
Schottky properties of Mo on diamond with fluorine- and oxygen-termination had
been investigated. Oxygen-termination was generated by aqua regia.
Fluorine-termination was generated by CF4 plasma treatment. Mo/Ni/Au
was deposited on the diamond surface as Schottky electrode, whose barrier height
was evaluated from current-voltage curve. After that, the X-ray photoelectron
spectroscopy methods were applied to calculate the Schottky barrier height of Mo
on different termination surface. The results indicated that the
fluorine-termination and oxygen-termination show different schottky
Most long QT syndrome patients are associated with genetic mutations. We aimed to investigate the clinical and biochemical characteristics and look for genotype-based preventive implications in Chinese long QT syndrome patients.
Methods and results
We identified two missense mutations of the KCNQ1 gene in two independent Chinese families, including a previously reported mutation R380S in the C-terminus and a novel mutation W305L in the P-loop domain of the Kv7.1 channel, respectively. The proband with R380S was an 11-year-old girl who suffered a prolonged corrected QT interval of 660 ms, recurrent syncope, and sudden cardiac death, whose father was an asymptomatic carrier. The mutation W305L was detected in a 36-year-old woman with long QT syndrome and her immediate family members including the proband’s younger sister with an unexplained syncope, her son, and her elder daughter without symptoms. Metoprolol appeared to be effective in preventing arrhythmias and syncope in long QT syndrome patients with mutation W305L. Both R380S and W305L mutations led to “loss-of-function” of the Kv7.1 channel accounting for the clinical phenotypes.
We first show two missense KCNQ1 mutations – R380S and W305L – in Chinese long QT syndrome patients, resulting in the loss of protein function. Mutation W305L in the P-loop domain of the Kv7.1 may derive a pronounced benefit from β-blocker therapy in symptomatic long QT syndrome patients, whereas mutation R380S located in the C-terminus may be associated with a high risk of sudden cardiac death.
Few studies have explored the relationship between dietary patterns and the risk of gestational diabetes mellitus (GDM). Evidence from non-Western areas is particularly lacking. In the present study, we aimed to examine the associations between dietary patterns and the risk of GDM in a Chinese population. A total of 3063 pregnant Chinese women from an ongoing prospective cohort study were included. Data on dietary intake were collected using a FFQ at 24–27 weeks of gestation. GDM was diagnosed using a 75 g, 2 h oral glucose tolerance test. Dietary patterns were determined by principal components factor analysis. A log-binomial regression model was used to examine the associations between dietary pattern and the risk of GDM. The analysis identified four dietary patterns: vegetable pattern; protein-rich pattern; prudent pattern; sweets and seafood pattern. Multivariate analysis showed that the highest tertile of the vegetable pattern was associated with a decreased risk of GDM (relative risk (RR) 0·79, 95 % CI 0·64, 0·97), compared with the lowest tertile, whereas the highest tertile of the sweets and seafood pattern was associated with an increased risk of GDM (RR 1·23, 95 % CI 1·02, 1·49). No significant association was found for either the protein-rich or the prudent pattern. The protective effect of a high vegetable pattern score was more evident among women who had a family history of diabetes (P for interaction = 0·022). These findings suggest that the vegetable pattern was associated with a decreased risk of GDM, while the sweets and seafood pattern was associated with an increased risk of GDM. These findings may be useful in dietary counselling during pregnancy.
In this paper, we propose a biomechatronic design of an anthropomorphic artificial hand that is able to mimic the natural motion of human fingers. The prosthetic hand has 5 fingers and 15 joints, which are actuated by 5 embedded motors. Each finger has three phalanges that can fulfill flexion-extension movements independently. The thumb is specially designed to move along a cone surface when grasping, and the other four fingers are well developed based on the four-bar link mechanism to imitate the motion of the human finger. To accomplish the sophisticated control schemes, the fingers are equipped with numerous torque and position sensors. The mechanical parts, sensors, and motion control systems are integrated in the hand structure, and the motion of the hand can be controlled through electromyography (EMG) signals in real-time. A new concept for the sensory feedback system based on an electrical stimulator is also taken into account. The low-cost prosthetic hand is small in size (85% of the human hand), of low weight (420 g) and has a large grasp power (10 N on the fingertips), hence it has a dexterous and humanlike appearance. The performance of the prosthetic hand is validated in a clinical evaluation on transradial amputees.
To evaluate the prevalence of vitamin D deficiency and insufficiency, as well as their association with Hb and elevated blood lead levels (BLL) in children in China.
A cross-sectional and 1-year retrospective study.
Department of Laboratory Medicine, West China Second University Hospital, Sichuan University, China.
Children aged from 6 months to 14 years living in south-west China who were taken to physical examinations (January–December 2011).
Of 1218 children included in the study, 25-hydroxyvitamin D (25(OH)D) concentration (mean 33·18 (sd 16·48) ng/ml) was deficient in 21·6 % and insufficient in 27·4 %, which were higher than the prevalence of both anaemia at 8·5 % and elevated BLL (Pb ≥ 10 μg/dl) at 1·8 %, but lower than mildly elevated BLL prevalence (5 μg/dl ≤ Pb < 10 μg/dl) at 56·9 %. There was a negative correlation between 25(OH)D concentration and BLL (r = −0·216, P < 0·001) while no significant relationship was found between 25(OH)D concentration and Hb (r = −0·012, P > 0·05). After multivariable adjustment, the significant predictors of 25(OH)D deficiency and insufficiency were increasing child age especially between 8 and 14 years (OR = 18·29; 95 % CI 10·14, 32·99; P < 0·001) and BLL (OR = 1·01; 95 % CI 1·00, 1·02; P = 0·045).
The prevalence of 25(OH)D deficiency and insufficiency was much higher than that of anaemia or elevated BLL in south-west China, and associated with increasing age and BLL.
Neurosyphilis (NS) may present with neuropsychiatric disorders characterized by cognitive impairment, personality disorders, and confusion, among others. Very few studies have focused on neuropsychiatric disorders secondary to NS in elderly people.
A retrospective chart review was performed to characterize the psychiatric findings, clinical signs and symptoms, laboratory findings, and brain magnetic resonance imaging results of ten elderly inpatients with NS.
In these ten patients, the most common presenting symptoms included a wide variety of psychiatric manifestations. The serum rapid plasma regain (RPR) and Treponema pallidum particle agglutination assay (TPPA) of the ten patients were positive, with positive CSF TPPA and RPR rates of 100% and 60%, respectively. In addition, 90% of the patients demonstrated abnormal imaging, including cerebral atrophy, infarct ischemic stroke, and hydrocephalus.
Our findings support the importance of serological tests for syphilis as a routine component of the evaluation of patients with clinically evident neurological or psychiatric symptoms. If the serology is positive, all of the patients should be examined with a lumbar puncture. Moreover, psychiatric illnesses secondary to NS in the elderly also deserve medical attention.
A bounded high order upwind scheme is presented for the modified Burgers’ equation by using the normalized-variable formulation in the finite volume framework. The characteristic line of the present scheme in the normalized-variable diagram is designed on the Hermite polynomial interpolation. In order to suppress unphysical oscillations, the present scheme respects both the TVD (total variational diminishing) constraint and CBC (convection boundedness criterion) condition. Numerical results demonstrate the present scheme possesses good robustness and high resolution for the modified Burgers’ equation.