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Abstract Background Autosomal‐recessive mutations in SPEG (striated muscle preferentially expressed protein kinase) have been linked to centronuclear myopathy with or without dilated cardiomyopathy (CNM5). Loss of SPEG is associated with defective triad formation, abnormal excitation–contraction coupling, calcium mishandling and disruption of the focal adhesion complex in skeletal muscles. To elucidate the underlying molecular pathways, we have utilized multi‐omics tools and analysis to obtain a comprehensive view of the complex biological processes and molecular functions. Methods Skeletal muscles from 2‐month‐old SPEG‐deficient (Speg‐CKO) and wild‐type (WT) mice were used for RNA sequencing (n = 4 per genotype) to profile transcriptomics and mass spectrometry (n = 4 for WT; n = 3 for Speg‐CKO mice) to profile proteomics and phosphoproteomics. In addition, interactomics was performed using the SPEG antibody on pooled muscle lysates (quadriceps, gastrocnemius and triceps) from WT and Speg‐CKO mice. Based on the multi‐omics results, we performed quantitative real‐time PCR, co‐immunoprecipitation and immunoblot to verify the findings. Results We identified that SPEG interacts with myospryn complex proteins CMYA5, FSD2 and RyR1, which are critical for triad formation, and that SPEG deficiency results in myospryn complex abnormalities (protein levels decreased to 22 ± 3% for CMYA5 [P

Defocus blurring imaging seriously affects the observation accuracy and application range of optical microscopes, and the blurring kernel function is a key parameter for high-resolution image restoration. However, its solving process is complicated and high in computational cost. Image restoration based on most neural networks has high requirements on data sets and the image resolution after restoration is limited because of the lack of quantitative estimation of blurring kernels. In this study, an image restoration method guided by blurring kernel estimation for microscopic defocused images is proposed. First, to reduce the blurring kernel estimation error caused by the positive and negative difference in microscopic defocused imaging, a defocused image classification network is designed to classify the input defocused images with different defocus distances and directions, and its output images are input into the blurring kernel extraction network composed of the feature extraction, correlation, and blurring kernel reconstruction layers. Second, a non-blind defocused image restoration model to restore the high-resolution images is proposed by introducing the blurring kernel extraction module into the restoration network based on U-Net, and the blurring kernel estimation and image restoration losses are jointly trained to realize image restoration guided by blurring kernel estimation. Finally, the experimental results of our proposed method demonstrate significant improvements in both the peak signal-to-noise ratio and structural similarity index measure when compared to other methods.

Background: This study aimed to investigate whether dexmedetomidine provides survival benefit in critically ill patients with sepsis-induced coagulopathy (SIC).Methods: Patients with sepsis-induced coagulopathy admitted to the ICU were identified from the Medical Information Marketplace for Intensive Care (MIMIC)-IV database. They were divided into two groups: patients who started dexmedetomidine within 48 h of ICU admission and lasted for more than 4 h and patients who did not receive dexmedetomidine as a control group. The primary outcome was 28-day hospital mortality, the secondary outcome was in-hospital mortality, and the extended outcomes included duration of mechanical ventilation and vasopressor use, ICU stay, and hospital stay. Propensity score matching (PSM) analysis was used to match patients who received dexmedetomidine with those who did not, and multivariable Cox models and logistics models were used to account for baseline differences and unmeasured confounders. An external validation was performed with the Critical care database comprising patients with infection at Zigong Fourth People’s Hospital.Results: After PSM, 592 patients who received dexmedetomidine were matched with 592 patients who did not receive dexmedetomidine. In the primary and secondary endpoints, dexmedetomidine was associated with a lower risk of 28-day hospital mortality (19.3% vs. 14.2%, hazard ratio (HR) 0.71; P = 0.020) and in-hospital mortality (22.3% vs. 16.4%, odds ratio (OR) 0.68; P = 0.017) in patients with SIC. Regarding the extended outcome, dexmedetomidine was also associated with a longer length of hospital stay (median 12.54 days vs. 14.87 days, P = 0.002) and longer ICU stay (median 5.10 days vs. 6.22 days, P = 0.009). In addition, the duration of mechanical ventilation was significantly increased in the dexmedetomidine group (median 41.62 h vs. 48.00 h, p = 0.022), while the duration of vasopressor use was not significantly different (median 36.67 h vs. 39.25 h, p = 0.194). Within 48 h of ICU stay, receiving a dose of dexmedetomidine greater than 0.474 μg/kg/h and continuous dexmedetomidine administration for 24–48 h may be associated with 28-day hospitalization outcomes in patients with SIC. External cohort validation also found that the use of dexmedetomidine after admission to the ICU can reduce 28-day mortality in patients with SIC.Conclusion: Dexmedetomidine administration is associated with reduced 28-day hospital mortality and in-hospital mortality in critically ill patients with SIC, and these findings deserve further verification in randomized controlled trials.

Time-frequency analysis (TFA) can provide relevant information about subsurface reservoirs, which is essential in reservoir identification. Traditional TFA methods are limited by resolution, resulting in unreliable seismic interpretation. The time-reassigned synchrosqueezing transform (TSST) is a practical TFA approach for processing non-stationary signals. However, for a frequency-domain signal with a strong-varying group delay (GD), the TSST provides a blurred time-frequency representation (TFR). We propose a novel TFA method called high-order TSST (HTSST) to address this problem. First, to describe the signal with GD variations, we develop a frequency domain signal model. Next, the high-order partial derivative of the short-time Fourier transform (STFT) is obtained based on the high-order Taylor expansion of the signal, and a matrix determinant is constructed according to the results. The matrix determinant is then used to deduce an explicit GD estimation formula in the time-frequency domain. Finally, the high-resolution TFR of the HTSST is generated by squeezing the energy to the estimated GD. With a strong-varying GD, frequency-domain signals can thus benefit from a high-resolution TFR provided by HTSST. Numerical simulations are performed to investigate this method’s efficiency. Through the analysis of seismic field data, the efficacy of this method for tight sandstone gas reservoir identification is verified.

Background: Chronic kidney disease (CKD) is a major public health concern. However, validated and broadly applicable biomarkers for early CKD diagnosis are currently not available. We aimed to identify serum metabolic signatures at an early stage of CKD to provide a reference for future investigations into the early diagnostic biomarkers. Methods: Serum metabolites were extracted from 65 renal dysfunction (RD) patients and 121 healthy controls (discovery cohort: 12 RD patients and 55 health participants; validation cohort: 53 RD patients and 66 health participants). Metabolite extracts were analyzed by ultraperformance liquid chromatography coupled with quadrupole-electrostatic field orbital trap mass spectrometry (UPLC-QE-Orbitrap MS) for untargeted metabolomics. Orthogonal partial least squares-discriminant analysis (OPLS-DA) was performed to detect different compounds between groups. Receiver operating characteristic (ROC) curve analysis was carried out to determine the diagnostic value of the validated differential metabolites between groups. We referred to the Kyoto Encyclopedia of Gene and Genomes (KEGG) to elucidate the metabolic pathways of the validated differential metabolites. Results: A total of 22 and 23 metabolites had significantly different abundances in the discovery and validation cohort, respectively. Six of them (creatinine, L-proline, citrulline, butyrylcarnitine, 1-methylhistidine, and valerylcarnitine) in the RD group was more abundant than that of the health group in both cohorts. The combination of the six validated differential metabolites were able to accurately detect RD (AUC 0.86). Three of the six metabolites are involved in the metabolism of arginine and proline. Conclusions: The present study highlights that creatinine, L-proline, citrulline, butyrylcarnitine, 1-methylhistidine, and valerylcarnitine are metabolite indicators with potential predictive value for CKD.

Particle reinforced metal matrix composite (PRMMCs) has a complex mesoscopic structure, and the addition of particles can strengthen the metal matrix, which makes the deformation and failure behavior of PRMMCs under load very complicated. The finite element method can quantitatively describe the effect of PRMMCs microstructure parameters on the macroscopic properties of materials, but the key is to establish a representative volume element(RVE) model that can reflect the real mechanical properties of materials. This paper reports and discusses on the construction methods of the RVE model of PRMMCs from three aspects: the geometric modeling of PRMMCs microstructure, the construction of the matrix constitutive equation based on PRMMCs reinforcement mechanism and the interface module. In the end, Abaqus and some of its secondary development functions are introduced.

Introduction Rapid genomic sequencing (rGS) in critically ill infants with suspected genetic disorders has high diagnostic and clinical utility. However, rGS has primarily been available at large referral centres with the resources and expertise to offer state-of-the-art genomic care. Critically ill infants from racial and ethnic minority and/or low-income populations disproportionately receive care in safety-net and/or community settings lacking access to state-of-the-art genomic care, contributing to unacceptable health equity gaps. VIrtual GenOme CenteR is a ‘proof-of-concept’ implementation science study of an innovative delivery model for genomic care in safety-net neonatal intensive care units (NICUs).Methods and analysis We developed a virtual genome centre at a referral centre to remotely support safety-net NICU sites predominantly serving racial and ethnic minority and/or low-income populations and have limited to no access to rGS. Neonatal providers at each site receive basic education about genomic medicine from the study team and identify eligible infants. The study team enrols eligible infants (goal n of 250) and their parents and follows families for 12 months. Enrolled infants receive rGS, the study team creates clinical interpretive reports to guide neonatal providers on interpreting results, and neonatal providers return results to families. Data is collected via (1) medical record abstraction, (2) surveys, interviews and focus groups with neonatal providers and (3) surveys and interviews with families. We aim to examine comprehensive implementation outcomes based on the Proctor Implementation Framework using a mixed methods approach.Ethics and dissemination This study is approved by the institutional review board of Boston Children’s Hospital (IRB-P00040496) and participating sites. Participating families are required to provide electronic written informed consent and neonatal provider consent is implied through the completion of surveys. The results will be disseminated via peer-reviewed publications and data will be made accessible per National Institutes of Health (NIH) policies.Trial registration number NCT05205356/clinicaltrials.gov.

Abstract Sodium‐ion batteries (SIBs) have been extensively studied as the potential alternative to lithium‐ion batteries (LIBs) due to the abundant natural reserves and low price of sodium resources. Nevertheless, Na+ ions possess a larger radius than Li+, resulting in slow diffusion dynamics in electrode materials, and thus seeking appropriate anode materials to meet high performance standards has become a trend in the field of SIBs. In this context, owing to the advantages of high theoretical capacity and proper redox potential, metal phosphides (MPs) are considered to be the promising materials to make up for the gap of SIBs anode materials. In this review, the recent development of MPs anode materials for SIBs is reviewed and analyzed comprehensively and deeply, including the synthesis method, advanced modification strategy, electrochemical performance, and Na storage mechanism. In addition, to promote the wide application of the emerging MPs anodes for SIBs, several research emphases in the future are pointed out to overcome challenges toward the commercial application.

Striated preferentially expressed protein kinase (SPEG), a myosin light chain kinase, is mutated in centronuclear myopathy (CNM) and/or dilated cardiomyopathy. No precise therapies are available for this disorder, and gene replacement therapy is not a feasible option due to the large size of SPEG. We evaluated the potential of dynamin-2 (DNM2) reduction as a potential therapeutic strategy because it has been shown to revert muscle phenotypes in mouse models of CNM caused by MTM1, DNM2, and BIN1 mutations. We determined that SPEG-β interacted with DNM2, and SPEG deficiency caused an increase in DNM2 levels. The DNM2 reduction strategy in Speg-KO mice was associated with an increase in life span, body weight, and motor performance. Additionally, it normalized the distribution of triadic proteins, triad ultrastructure, and triad number and restored phosphatidylinositol-3-phosphate levels in SPEG-deficient skeletal muscles. Although DNM2 reduction rescued the myopathy phenotype, it did not improve cardiac dysfunction, indicating a differential tissue-specific function. Combining DNM2 reduction with other strategies may be needed to target both the cardiac and skeletal defects associated with SPEG deficiency. DNM2 reduction should be explored as a therapeutic strategy against other genetic myopathies (and dystrophies) associated with a high level of DNM2.

In order to study the effect of alternating fluid–solid action on the dynamic characteristics of the runner of a reversible hydraulic turbine, a reversible hydraulic turbine model is used as the research object, and the two-way fluid–solid coupling method is used to iteratively calculate and analyze the fluid and structural equations to obtain the effect of the reversible hydraulic turbine on the runner under the two-way fluid–solid coupling action of the runner of the reversible hydraulic turbine under typical operating conditions. The results showed that under the influence of a high-speed water ring area under a certain working condition, the incoming flow direction forms a certain impulse angle with the blade, and under the joint action of the runner rotating at high speed, the vortex structure is generated in the blade area, and the speed change in the inlet area has a large random fluctuation, which is not conducive to the stability of the runner area and causes a strong pressure pulsation at the inlet. Under different working conditions, the runner stress area phenomenon is obvious, concentrated in the runner blade inlet side and the upper crown, lower ring connection. The maximum deformation region appears in the lower region of the middle of the blade inlet. The comparison of the modal analysis shows that the dynamic stress frequency caused by the dynamic interference is very unlikely to trigger the resonance of the runner.

Emergency power system refers to a system that is composed of self-generating equipment in the building. By providing power support for emergency events such as power outages, it can keep the energy safety assurance. Usually, emergency power systems are independent and redundant. As a backup, their utilization rates are extremely low, resulting in excessive redundancy causing a lot of waste of resources and equipment. In this paper, a model integrating stand-alone emergency power systems with micro-network was proposed to improve power supply reliability in a more economic manner. Integrated emergency power system with the dispatch strategy of self-priority was established based on reliability and power demand of buildings simulated through Monte Carlo method. To evaluate the impact of integration, the total cost of integrated emergency power system was calculated including economic loss during power outages and system costs. Finally, genetic algorithm was used to obtain the optimal capacity and dispatch strategy of the integrated emergency power system by minimizing the total cost. Results showed that the reliability was improved, and the total cost was reduced to 80.05% by integrated emergency power system in the illustrated case.

Abstract Given the advantages of being abundant in resources, environmental benign and highly safe, rechargeable zinc-ion batteries (ZIBs) enter the global spotlight for their potential utilization in large-scale energy storage. Despite their preliminary success, zinc-ion storage that is able to deliver capacity > 400 mAh g−1 remains a great challenge. Here, we demonstrate the viability of NH4V4O10 (NVO) as high-capacity cathode that breaks through the bottleneck of ZIBs in limited capacity. The first-principles calculations reveal that layered NVO is a good host to provide fast Zn2+ ions diffusion channel along its [010] direction in the interlayer space. On the other hand, to further enhance Zn2+ ion intercalation kinetics and long-term cycling stability, a three-dimensional (3D) flower-like architecture that is self-assembled by NVO nanobelts (3D-NVO) is rationally designed and fabricated through a microwave-assisted hydrothermal method. As a result, such 3D-NVO cathode possesses high capacity (485 mAh g−1) and superior long-term cycling performance (3000 times) at 10 A g−1 (~ 50 s to full discharge/charge). Additionally, based on the excellent 3D-NVO cathode, a quasi-solid-state ZIB with capacity of 378 mAh g−1 is developed.

ARHGAP42 encodes Rho GTPase activating protein 42 that belongs to a member of the GTPase Regulator Associated with Focal Adhesion Kinase (GRAF) family. ARHGAP42 is involved in blood pressure control by regulating vascular tone. Despite these findings, disorders of human variants in the coding part of ARHGAP42 have not been reported. Here, we describe an 8-year-old girl with childhood interstitial lung disease (chILD), systemic hypertension, and immunological findings who carries a homozygous stop-gain variant (c.469G>T, p.(Glu157Ter)) in the ARHGAP42 gene. The family history is notable for both parents with hypertension. Histopathological examination of the proband lung biopsy showed increased mural smooth muscle in small airways and alveolar septa, and concentric medial hypertrophy in pulmonary arteries. ARHGAP42 stop-gain variant in the proband leads to exon 5 skipping, and reduced ARHGAP42 levels, which was associated with enhanced RhoA and Cdc42 expression. This is the first report linking a homozygous stop-gain variant in ARHGAP42 with a chILD disorder, systemic hypertension, and immunological findings in human patient. Evidence of smooth muscle hypertrophy on lung biopsy and an increase in RhoA/ROCK signaling in patient cells suggests the potential mechanistic link between ARHGAP42 deficiency and the development of chILD disorder.

Abstract Background Nemaline myopathy 8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, contractures, fractures, respiratory failure and swallowing difficulties apparent at birth. Methods An affected dizygotic twin pair from a non‐consanguineous Chinese family presented with severe asphyxia, lethargy and no response to stimuli. The dysmorphic features included prominent nasal bridge, telecanthus, excessive hip abduction, limb edema, absent palmar and sole creases, acromelia, bilateral clubfoot, appendicular hypertonia and cryptorchidism. Both infants died in the first week of life. Whole‐exome sequencing was used to identify the causative gene. Results Whole‐exome sequencing identified a recurrent missense variant c.1516A>C and a novel splice‐acceptor variant c.1153‐1G>C in KLHL40 gene in both siblings. We estimated the disease incidence in Southern Chinese population to be 2.47/100,000 based on the cumulative allele frequency of pathogenic and likely pathogenic variants in our internal database. Conclusion Our study expanded the mutation spectrum of KLHL40 and the condition could have been underdiagnosed before. We identified a recurrent missense variant c.1516A>C and provided evidence further supporting the founder effect of this variant in Southern Chinese population. Given the severity of the condition and the relative high incidence, this not‐so‐rare disorder should be included in expanded carrier screening panel for Chinese population.

An increase in internal pressure of a Roto-Jet pump is due to combined action of its impeller and rotating casing. Internal pressure of the pump chamber was determined according to outlet pressure of the impeller, and the influence of the rotary casing effect was ignored. To study the combined action mechanism of the rotating casing effect and impeller structure on the Roto-Jet pump, we used the open test bed of the Roto-Jet pump and four model pumps with impellers of different structures as research objects. We also conducted a comprehensive experimental study on the coupling mechanism between the rotating casing effect and impeller structure. Numerical calculation was performed to avoid the assumption of isotropic eddy viscosity, Reynolds stress linear pressure-strain model is selected, and the numerical calculation results are compared with the experimental results to verify its credibility. The results show that the rotating casing effect has multiple functions to reduce the friction loss of the disc, improve the pressure distribution inside the rotating casing, and increase the pump head. All scheme, pressure, and velocity fluctuations occur in the upstream and wake regions of the collecting pipe and the energy loss is concentrated in the upstream region. The difference in velocity distribution inside the collecting pipe is small and negligible. As long as the impeller and rotating casing continue to rotate synchronously, the liquid shear velocity at the same coordinate position of each scheme remains unchanged, and the liquid rotation angular velocity in the rotating casing is approximately 75% of the rotating casing which conforms to the rigid motion law. In the same scheme, the coefficient of uneven velocity inside the rotating casing gradually increases along the radial direction. The closer to the axis, the faster is the decrease of the peak tangential velocity and the velocity tends to be uniform. The size, shape, and position of the vortex core inside the rotating casing change constantly with various schemes. The distribution of vortex cores varies under each scheme. The front cover and rotating casing have a serious effect on the vortex core. The extremely poor analysis of the test results shows that the performance of the Roto-Jet pump is better when the closed impeller is rotated in synchronisation with the rotating casing. The advantages and disadvantages of each blade type can be determined according to the situation. The research results can exhibit the influence mechanism of the Roto-Jet pump shell effect. Selection of an impeller structure provides a reference.

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism caused by mutations in EFTA, EFTB, or ETFDH. Many MADD patients are responsive to treatment with riboflavin, termed riboflavin-responsive MADD (RR-MADD). Here, we report three novel mutations and one previously reported mutation in ETFDH in four RR-MADD patients who presented at various ages, and characterize the corresponding changes in ETF-QO protein structure. Clinicians should consider MADD in the differential diagnosis when patients present with muscle weakness and biochemical abnormalities. Gene testing plays a critical role in confirming the diagnosis of MADD, and may not only prevent patients from invasive testing, but also allow timely initiation of riboflavin treatment. The novel variants in ETFDH and the corresponding clinical features reported here enrich the allelic heterogeneity of RR-MADD and provide insight into genotype-phenotype relationships. Keywords: Multiple acyl-CoA dehydrogenase deficiency, Glutaric aciduria II, ETFDH, ETF-QO, Riboflavin

Background: The incidence of congenital hypothyroidism (CH) differs significantly among different ethnicities and regions, and early differentiation of transient CH is important to avoid unnecessary prolonged treatment with L-T4. Objective: To investigate the incidence of CH based on the newborn screening program in Guangxi Zhuang Autonomous Region, China, and to analyze the predictors that might allow for an early differentiation between permanent (P) and transient (T) CH. Design and methods: Data from newborn screening program over a seven-year period (January 2009 to January 2016) at Guangxi Maternal and Child Health Hospital are analyzed. Blood samples were collected on filter paper between 3 and 7 days after birth, and TSH level was measured by time-resolved fluorescence assay. Individuals with increased TSH (TSH ≥ 8 IU/L) levels detected by newborn screening were recalled for further evaluation. Serum TSH, FT3 and FT4 were determined by electrochemiluminescence assay using venous blood samples. Diagnosis of CH is based on elevated TSH levels (>10 IU/L) and decreased FT4 levels (30 μg/day) has the highest predictive value for PCH. Earlier differentiation of PCH and TCH helps to determine appropriate treatment course.

Mutations in striated preferentially expressed protein kinase (SPEG), a member of the myosin light chain kinase protein family, are associated with centronuclear myopathy (CNM), cardiomyopathy, or a combination of both. Burgeoning evidence suggests that SPEG plays critical roles in the development, maintenance, and function of skeletal and cardiac muscles. Here we review the genotype-phenotype relationships and the molecular mechanisms of SPEG-related diseases. This review will focus on the progress made toward characterizing SPEG and its interacting partners, and its multifaceted functions in muscle regeneration, triad development and maintenance, and excitation-contraction coupling. We will also discuss future directions that are yet to be investigated including understanding of its tissue-specific roles, finding additional interacting proteins and their relationships. Understanding the basic mechanisms by which SPEG regulates muscle development and function will provide critical insights into these essential processes and help identify therapeutic targets in SPEG-related disorders.

Highly dispersible Eu3+-doped CaMoO4@Au-nanorod hybrid nanoparticles (HNPs) exhibit optical properties, such as plasmon resonances in the near-infrared region at 790 nm and luminescence at 615 nm, offering multimodal capabilities: fluorescence imaging, surface-enhanced Raman spectroscopy (SERS) detection and photothermal therapy (PTT). HNPs were conjugated with a Raman reporter (4-mercaptobenzoic acid), showing a desired SERS signal (enhancement factor 5.0 × 105). The HNPs have a heat conversion efficiency of 25.6%, and a hyperthermia temperature of 42°C could be achieved by adjusting either concentration of HNPs, or laser power, or irradiation time. HNPs were modified with antibody specific to cancer biomarker epidermal growth factor receptor, then applied to human lung cancer (A549) and mouse hepatocyte cells (AML12), and in vitro PTT effect was studied. In addition, the biomechanical properties of A549 cells were quantified using atomic force microscopy. This study shows the potential applications of these HNPs in fluorescence imaging, SERS detection, and PTT with good photostability and biocompatibility.

Abstract Background: Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be associated with chromosomal abnormalities. Currently, patients with CHD are routinely offered karyotyping and chromosomal microarray (CMA) testing, but the genotype-phenotype relationship has not yet been fully established. Objective: To determine the type and frequency of chromosomal abnormalities in fetuses with CHD and to analyze pregnancy outcomes of fetuses with heart abnormalities caused by different genetic factors. Methods: A total of 362 cases of CHD were enrolled from 2009 to 2016. Detailed ultrasound and laboratory examinations, including karyotyping and CMA, were performed. Outcome was obtained from discharge summaries. Results: Of the 362 fetuses, 220 were found with an isolated CHD, and 142 had CHD with extracardiac anomaly. Among these 362 fetuses, 140 were identified with a genetic cause, including 111 cases with aneuploidy, 10 cases with abnormality of chromosomal structure by karyotyping and 19 cases with pathogenic or likely pathogenic copy-number variations (CNVs) by CMA. The detection rate is close to 38.7%. Only one (identified as trisomy 18 syndrome) in 140 positive cases resulted in perinatal death, with the others being induced. The remaining 222 cases had negative results for both genetic testing and of these cases, 56 resulted in induced labor, and 77 had natural childbirth or caesarean births. The pregnancy outcome of the remaining 89 cases was uncertain. Conclusions: Karyotyping and CMA are effective and accurate prenatal genetic techniques for identifying fetal chromosomal abnormalities associated with cardiac defects, and this can assist clinical doctors to perform appropriate genetic counselling with regard to the etiology and outcome of CHD.

Long-term cyclic loading can have a significant effect on the modulus of sand, and the influence on saturated coral sand has yet to be established. In this paper, the significant influence of non-plastic fines content (FC) and relative density (Dr) on dynamic elastic modulus (E) of saturated coral sand has been evaluated by a series of cyclic triaxial drainage tests. The results show that the dynamic elastic modulus increases rapidly at the beginning of loading; then the growth slows down and finally stabilizes. In general, the development of E is influenced collectively by FC, Dr and cyclic stress ratio (CSR). The initial dynamic elastic modulus Ed-1 and steady-state dynamic elastic modulus Ed-s increase with the increase of Dr, and decrease as FC increases. The linear fitting equations are given by introducing the equivalent skeleton void ratio esk*. Furthermore, the relative dynamic elastic modulus Er is defined as the ratio of Ed-N to Ed-s, and the prediction equation for Er was developed to provide a basis for the engineering mechanical parameters of coral sands under long-term loads.