Biomarkers may be useful endophenotypes for genetic studies if they share genetic sources of variation with the outcome, for example, with all-cause mortality. Australian adult study participants who had reported their parental survival information were included in the study: 14,169 participants had polygenic risk scores (PRS) from genotyping and up to 13,365 had biomarker results. We assessed associations between participants’ biomarker results and parental survival, and between biomarker results and eight parental survival PRS at varying p-value cut-offs. Survival in parents was associated with participants’ serum bilirubin, C-reactive protein, HDL cholesterol, triglycerides and uric acid, and with LDL cholesterol for participants’ fathers but not for their mothers. PRS for all-cause mortality were associated with liver function tests (alkaline phosphatase, butyrylcholinesterase, gamma-glutamyl transferase), metabolic tests (LDL and HDL cholesterol, triglycerides, uric acid), and acute-phase reactants (C-reactive protein, globulins). Association between offspring biomarker results and parental survival demonstrates the existence of familial effects common to both, while associations between biomarker results and PRS for mortality favor at least a partial genetic cause of this covariation. Identification of genetic loci affecting mortality-associated biomarkers offers a route to the identification of additional loci affecting mortality.

The effects of a wavy wall on the stability of a hypersonic boundary layer on a flared cone are investigated by detailed experimental measurements and direct numerical simulations. The non-contact optical measurement method of focused laser differential interferometry is used to measure the disturbance development within the wavy region. The measurement results show that the second mode for the wavy wall is suppressed significantly compared with the smooth wall, and that multiple disturbances at low frequencies appear within the wavy region. Numerical corroboration against experimental measurements reveals good quantitative agreement. It is found that the disturbances at $f=360$ kHz on the wavy wall are suppressed appreciably, which are very significant on the smooth wall. And the disturbances at $f=140$ kHz and $f=260$ kHz develop within the wavy region, and increase considerably. Also, the disturbances achieve a significant increase over the first half of a wavy trough and become more stable over the second half of a wavy trough. The physical mechanism is found to be due to the change in wall geometry and is attributed to the spatially modulated mean flow. The disturbance growth rate is closely related to the level of the mean-flow distortion.

A short-term 2-week (2w) and long-term 8-week (8w) feeding trial was conducted to investigate the effects of low-starch (LS) and high-starch (HS) diets on the growth performance, metabolism and liver health of largemouth bass (Micropterus salmoides). Two isonitrogenous and isolipidic diets containing two levels of starch (LS, 9·06 %; HS, 13·56 %) were fed to largemouth bass. The results indicated that HS diet had no significant effects on specific growth rate during 2w, whereas significantly lowered specific growth rate at 8w. HS diet significantly increased hepatic glycolysis and gluconeogenesis at postprandial 24 h in 2w. The hepatosomatic index, plasma alkaline phosphatase, total bile acid (TBA) levels, and hepatic glycogen, TAG, total cholesterol, TBA, and NEFA contents were significantly increased in the HS group at 2w. Moreover, HS diet up-regulated fatty acid and TAG synthesis-related genes and down-regulated TAG hydrolysis and β-oxidation-related genes. Therefore, the glucolipid metabolism disorders resulted in metabolic liver disease induced by HS diet at 2w. However, the up-regulation of bile acid synthesis, inflammation and energy metabolism-related genes in 2w indicated that largemouth bass was still in a state of ‘self-repair’ response. Interestingly, all the metabolic parameters were returned to homoeostasis, with up-regulation of intestinal glucose uptake and transport-related genes, even hepatic histopathological analysis showed no obvious abnormality in the HS group in 8w. In conclusion, HS feed induced short-term acute metabolic disorder, but long-term metabolic adaptation to HS diet was related to repairing metabolism disorders via improving inflammatory responses, bile acid synthesis and energy metabolism. These results strongly indicated that the largemouth bass owned certain adaptability to HS diet.

The evolution of an instability in a transitional hypersonic boundary layer and its effects on aerodynamic cooling are investigated over 260-mm-long flared cone models with smooth and porous surfaces. Experiments are conducted in a Mach 6 wind tunnel using Rayleigh-scattering flow visualization, fast-response pressure sensors and an infrared camera. Calculations are performed based on both direct numerical simulations (DNS) and linear stability theory (LST). The unit Reynolds number is $9.7 \times 10^6\ \textrm {m}^{-1}$. It is confirmed that a cooled region appears downstream of the local heat peak as the second-mode instability evolves over the smooth-surface model, as found in other studies. Comparisons between the DNS and LST results show that the nonlinear interaction of the second mode causes the phase difference $\phi _{p\theta }$ to change between the periodic pressure and dilatation waves. This forms a negative cycle-averaged pressure dilatation near the wall and creates the cooled region. Further, by using porous steel to modify the sound admittance of the model surface, it is possible to artificially obtain negative cycle-averaged pressure dilatation near the wall, and thus reduce the surface heat flux by approximately 28 %. These results indicate the possibility of precisely controlling the pressure-dilatation-induced aerodynamic heating through the modification of surface sound admittance.

The dependence of fishbone cycle on energetic particle intensity has been investigated in EAST low-magnetic-shear plasmas. It is observed that the fishbone mode growth rate, saturation amplitude as well as fishbone cycle frequency clearly increase with increasing neutral beam injection (NBI) power. Moreover, enhanced electron density and temperature perturbations as well as energetic particle loss were observed with greater injected NBI power. Simulation results using M3D-K code show that as the NBI power increases, the resonant frequency and the energy of the resonant particles become higher, and the saturation amplitude of the mode also changes, due to the non-perturbative energetic particle contribution. The relationship between the calculated energetic particle pressure ratio and fishbone cycle frequency is obtained as ${f_{\textrm{FC}}} = 2.2{(1000{\beta _{\textrm{ep,calc}}} - 0.1)^{5.9 \pm 0.5}}$. Results consistent with the experimental observations have been achieved based on a predator–prey model.

In this paper, the generation of relativistic electron mirrors (REMs) and the reflection of an ultra-short laser off this mirrors are discussed, applying two-dimensional particle-in-cell (2D-PIC) simulations. REMs with ultra-high acceleration and expanding velocity can be produced from a solid nanofoil illuminated normally by an ultra-intense femtosecond laser pulse with a sharp rising edge. Chirped attosecond pulse can be produced through the reflection of a counter-propagating probe laser off the accelerating REM. In the electron moving frame, the plasma frequency of the REM keeps decreasing due to its rapidly expanding. The laser frequency, on the contrary, keeps increasing due to the acceleration of REM and the relativistic Doppler shift from the lab frame to the electron moving frame. Within an ultra-short time interval, the two frequencies will be equal in the electron moving frame, which leads the resonance between laser and REM. The reflected radiation near this interval and the corresponding spectra will be amplified due to the resonance. Through adjusting the arriving time of the probe laser, certain part of the reflected field could be selectively amplified or depressed, leading to the selectively adjusting of the corresponding spectra.

Previous genetic studies on hair morphology focused on the overall morphology of the hair using data collected by self-report or researcher observation. Here, we present the first genome-wide association study (GWAS) of a micro-level quantitative measure of hair curvature. We compare these results to GWAS results obtained using a macro-level classification of observable hair curvature performed in the same sample of twins and siblings of European descent. Observational data were collected by trained observers, while quantitative data were acquired using an Optical Fibre Diameter Analyser (OFDA). The GWAS for both the observational and quantitative measures of hair curvature resulted in genome-wide significant signals at chromosome 1q21.3 close to the trichohyalin (TCHH) gene, previously shown to harbor variants associated with straight hair morphology in Europeans. All genetic variants reaching genome-wide significance for both GWAS (quantitative measure lead single-nucleotide polymorphism [SNP] rs12130862, p = 9.5 × 10–09; observational measure lead SNP rs11803731, p = 2.1 × 10–17) were in moderate to very high linkage disequilibrium (LD) with each other (minimum r2 = .45), indicating they represent the same genetic locus. Conditional analyses confirmed the presence of only one signal associated with each measure at this locus. Results from the quantitative measures reconfirmed the accuracy of observational measures.

We report on the generation of a mid-infrared (mid-IR) frequency comb with a maximum average output power of 250 mW and tunability in the 2.7–4.0 μm region. The approach is based on a single-stage difference frequency generation (DFG) starting from a compact Yb-doped fiber laser system. The repetition rate of the near-infrared (NIR) comb is locked at 75 MHz. The phase noise of the repetition rate in the offset-free mid-IR comb system is measured and analyzed. Except for the intrinsic of NIR comb, environmental noise at low frequency and quantum noise at high frequency from the amplifier chain and nonlinear spectral broadening are the main noise sources of broadening the linewidth of comb teeth, which limits the precision of mid-IR dual-comb spectroscopy.

One of Nick’s key early achievements at QIMR was to establish a twin study on melanoma risk factors. The Brisbane Twin Nevus Study (BTNS) had an initial focus on nevus (mole) count in adolescents but, reflecting Nick’s broad interests, expanded in scope enormously over the decades. In the skin cancer arena, BTNS was essential to genetic discoveries in melanoma, eye color and pigmentation. Later studies amassed data on thousands of phenotypes, ranging from molecular phenotypes such as gene expression to studies where gene mapping findings in adolescents turned out to have translational potential in late-onset diseases. Nick’s twin data have formed the basis for an enormous range of discoveries, with Nick and his colleagues continuing to capitalize on these data.

In this paper, the generation of relativistic electron mirrors (REM) and the reflection of an ultra-short laser off the mirrors are discussed, applying two-dimension particle-in-cell simulations. REMs with ultra-high acceleration and expanding velocity can be produced from a solid nanofoil illuminated normally by an ultra-intense femtosecond laser pulse with a sharp rising edge. Chirped attosecond pulse can be produced through the reflection of a counter-propagating probe laser off the accelerating REM. In the electron moving frame, the plasma frequency of the REM keeps decreasing due to its rapid expansion. The laser frequency, on the contrary, keeps increasing due to the acceleration of REM and the relativistic Doppler shift from the lab frame to the electron moving frame. Within an ultra-short time interval, the two frequencies will be equal in the electron moving frame, which leads to the resonance between laser and REM. The reflected radiation near this interval and corresponding spectra will be amplified due to the resonance. Through adjusting the arriving time of the probe laser, a certain part of the reflected field could be selectively amplified or depressed, leading to the selective adjustment of the corresponding spectra.

We report on a compact and robust self-referenced optical frequency comb with a tunable repetition rate, generated by an all-polarization-maintaining (PM) mode-locked Er-doped fiber laser. The spacing between comb teeth can be tuned above 300 kHz at a repetition rate of 101 MHz. The repetition rate and the carrier–envelope offset of the laser are stabilized separately, and the relative residual phase noises are determined to be $336~\unicode[STIX]{x03BC}\text{rad}$ and 713 mrad (1 Hz–1 MHz). The accurate frequency characteristics and the stable structure show great potential for the use of such a comb in applications of precision measurements.

Ventricular septal defect is the most common type of CHD, and transcatheter ventricular septal defect closure has been shown to be an alternative to surgical closure with acceptable mortality and morbidity as well as encouraging results. Short-term and mid-term follow-ups have indicated the safety and efficacy of transcatheter closure, but long-term follow-up results were rare. In this report, we first found that aortic regurgitation occurred in patients 9–12 years following transcatheter closure and regurgitation were gradually increased. The findings indicate that the long-term outcome of transcatheter closure of ventricular septal defect may not be as satisfied as expected.

Given the global water challenges, solar-driven steam generation has become a renewed topic recently as an energy-efficient way for clean water production. Here, a hybrid plasmonic structure consisting of a top layer of TiN nanoparticles (NPs) and a bottom layer of mesoporous anodized alumina membrane (AAM) was rationally designed and fabricated. The top TiN NPs with broadband light absorption acted as a plasmonic heating layer, which converted the absorbed light to heat efficiently for interfacial water heating. The AAM acted as the mechanical support layer, guaranteeing the heat isolation and continuous water replenishment. With optimized thickness of the TiN top layer, a solar steam generation efficiency of 87.7% was achieved in this study. This efficiency is comparable or even higher than prior studies. The current work proves the capability of the TiN NPs as an alternative photothermal material.

Vessel flexure can be triggered naturally by surgical operation, heart pulsation and body movement. It may affect the mechanical behavior of the stent and the existence of a stent may in turn cause vessel injury. In the present study, the finite element method is employed to study the interaction between stent and vessel during vessel flexure. Two- and four-link stents made of stainless steel 316L and magnesium alloy WE43 are considered. Results indicate that longitudinal deformation of the stent can be caused by vessel flexure, and the higher levels of stress exist in the link struts. The existence of the stent could induce significant stress concentration and straightened deformation on vessel wall in the course of vessel flexure. Stents with more links or made of harder materials show greater anti-deformation capability, thus inducing a more severe stress concentration and straightened deformation on the vessel wall. The bending direction also affects the mechanical performance of the vessel-stent system. The results obtained could provide useful information for better stent designs and clinical decisions.

The triplite LiFeSO4F displays both the highest potential ever reported for an Fe-based compound, as well as a comparable specific energy with that of popular LiFePO4. The synthesis is still a challenge because the present approaches are connected with long time, special equipments or organic reagents, etc. In this work, the triplite LiFeSO4F powder was synthesized through an ambient two-step solid-state route. The reaction process and phase purity were analyzed, coupled with structure refinement and electrochemical test.

Acne vulgaris is a skin disease with a multifactorial and complex pathology. While several twin studies have estimated that acne has a heritability of up to 80%, the genomic elements responsible for the origin and pathology of acne are still undiscovered. Here we performed a twin-based structural equation model, using available data on acne severity for an Australian sample of 4,491 twins and their siblings aged from 10 to 24. This study extends by a factor of 3 an earlier analysis of the genetic factors of acne. Acne severity was rated by nurses on a 4-point scale (1 = absent to 4 = severe) on up to three body sites (face, back, chest) and on up to three occasions (age 12, 14, and 16). The phenotype that we analyzed was the most severe rating at any site or age. The polychoric correlation for monozygotic twins was higher (rMZ = 0.86, 95% CI [0.81, 0.90]) than for dizygotic twins (rDZ = 0.42, 95% CI [0.35, 0.47]). A model that includes additive genetic effects and unique environmental effects was the most parsimonious model to explain the genetic variance of acne severity, and the estimated heritability was 0.85 (95% CI [0.82, 0.87]). We then conducted a genome-wide analysis including an additional 271 siblings — for a total of 4,762 individuals. A genome-wide association study (GWAS) scan did not detect loci associated with the severity of acne at the threshold of 5E-08 but suggestive association was found for three SNPs: rs10515088 locus 5q13.1 (p = 3.9E-07), rs12738078 locus 1p35.5 (p = 6.7E-07), and rs117943429 locus 18q21.2 (p = 9.1E-07). The 5q13.1 locus is close to PIK3R1, a gene that has a potential regulatory effect on sebocyte differentiation.