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Directed transport of a deformable particle is numerically investigated in a two-dimensional periodic channel. Unlike the rigid particle, the deformable particle can pass through the channel bottleneck that is significantly smaller than the particle size. The deformable characteristics of the particle can greatly affect the directed transport of the particle. (i) For the case of active deformable particle, the self-propelled velocity can break thermodynamics equilibrium and induce the directed transport. The average velocity is a peak (or valley) function of the particle size for large (or small) self-propulsion speed. Particle softening (large shape parameter) facilitates the rectification of the particle for small particle, while it blocks the rectification for large particle. (ii) For the case of passive deformable particle, periodic oscillation of the particle size can also break thermodynamical equilibrium. There exists an optimal oscillating frequency at which the average velocity takes its maximal value. For low oscillating frequency, the average velocity is a peak function of the oscillating amplitude, while for high oscillating frequency the average velocity increases monotonically with the oscillating amplitude. Our results may contribute to the understanding of the transport behaviors of soft, deformable matter in confined structures.

Background Ankylosing spondylitis (AS) is an autoimmune disease affecting mainly spine and sacroiliac joints and adjacent soft tissues. Genome-wide association studies (GWASs) are used to evaluate genetic associations and to predict genetic risk factors that determine the biological basis of disease susceptibility. We aimed to explore the race-specific SNP susceptibility of AS in Taiwanese individuals and to investigate the association between HLA-B27 and AS susceptibility SNPs in Taiwan. Methods Genotyping data were collected from a medical center participating in the Taiwan Precision Medicine Initiative (TPMI) in the northern district of Taiwan. We designed a case–control study to identify AS susceptibility SNPs through GWAS. We searched the genome browser to find the corresponding susceptibility genes and used the GTEx database to confirm the regulation of gene expression. A polygenic risk score approach was also applied to evaluate the genetic variants in the prediction of developing AS. Results The results showed that the SNPs located on the sixth chromosome were related to higher susceptibility in the AS group. There was no overlap between our results and the susceptibility SNPs found in other races. The 12 tag SNPs located in the MHC region that were found through the linkage disequilibrium method had higher gene expression. Furthermore, Taiwanese people with HLA-B27 positivity had a higher proportion of minor alleles. This might be the reason that the AS prevalence is higher in Taiwan than in other countries. We developed AS polygenic risk score models with six different methods in which those with the top 10% polygenic risk had a fivefold increased risk of developing AS compared to the remaining group with low risk. Conclusion A total of 147 SNPs in the Taiwanese population were found to be statistically significantly associated with AS on the sixth pair of chromosomes and did not overlap with previously published sites in the GWAS Catalog. Whether those genes mapped by AS-associated SNPs are involved in AS and what the pathogenic mechanism of the mapped genes is remain to be further studied.

Background/Objectives: Sudden sensorineural hearing loss (SSNHL) is an acute condition with unclear etiology, commonly hypothesized to be associated with viral infections. Acute respiratory tract infections (RTIs), particularly those of viral origin, have been implicated in SSNHL through proposed mechanisms such as cochlear invasion and immune-mediated damage. However, robust large-scale epidemiological evidence examining this association remains limited. This study aimed to investigate the potential association between acute RTIs and subsequent risk of developing SSNHL across diverse populations. Methods: We conducted a multinational retrospective cohort study using data from the TriNetX Global Collaborative Network. Adults diagnosed with acute RTIs between 1 January 2012 and 30 June 2023 were compared to matched controls without RTI exposure. Patients with predisposing conditions for SSNHL were excluded. Propensity score matching (1:1) was performed by age and sex. SSNHL diagnoses within 60 days post index were analyzed using Cox proportional hazards models. Subgroup and sensitivity analyses were conducted by race, sex, and age strata. Results: Among 37 million patients analyzed, individuals with acute RTIs had a lower incidence of SSNHL compared to matched controls. Hazard ratios (HRs) for SSNHL were significantly reduced across all racial groups: Whites (HR: 0.572), Blacks (HR: 0.563), and Asians (HR: 0.409). Subgroup analyses revealed stronger inverse associations in males and younger age groups, particularly those aged 18–25 years. Conclusions: Contrary to prior assumptions, acute RTIs were associated with a lower incidence of SSNHL in a large, diverse cohort. While the findings raise the possibility of immunological or physiological factors influencing this association, the results should be interpreted with caution due to unmeasured confounding and the observational nature of the study.

PurposeAlthough the association between anemia and cardiovascular mortality in hemodialysis patients is well established, whether hemoglobin variability (Hgb-Var) affects the prognosis remains unclear. We aimed to evaluate the association between Hgb-Var and cardiovascular mortality in Chinese hemodialysis patients.MethodsThis retrospective study included 252 patients starting hemodialysis in Xin Hua Hospital between January 2009 and December 2015. Patients were divided into three tertiles based on Hgb-Var, as reflected by SD Hgbmean, SD Hgbrange, and Hgbdeflection during a 12-month evaluation period after hemodialysis initiation. Left ventricular ejection fraction (EF) and left ventricular mass index (LVMI) were evaluated by echocardiography. Information on cardiovascular deaths occurred by December 2017 was collected. Multivariate Cox regression models were constructed to evaluate the association between Hgb-Var and cardiovascular mortality.ResultsA total of 75 deaths and 52 cardiovascular deaths occurred during the 47-month follow-up (range 29.5–70). Under multivariate regression, the subgroup with the highest Hgb-Var had a higher risk of cardiovascular mortality after adjusting for relevant factors (HR vs. lowest SD Hgbmean: 9.15, 95% CI 2.82, 29.693, P < 0.0001; HR vs. lowest SD Hgbrange: 3.81, 95% CI 1.40, 10.38, P = 0.005). Per 1 SD of Hgbmean and Hgbrange elevations were both related to a 10% increase in the cardiovascular mortality risk. Baseline EF% and LVMI did not differ across the Hgb-Var subgroups. EF% upon the last patient visit to the clinic was lower in the subgroup with the highest SD Hgbmean (P = 0.02).ConclusionsHigh Hgb-Var is an independent risk factor for cardiovascular mortality in hemodialysis patients and might influence the cardiac function.

Acute kidney injury (AKI) is a disease where kidney function is lost almost instantaneously; it can develop very rapidly over few hours to maximum of few days. Despite the advent of technology, the clinical management against this disease is very poor, and most of the time it is life-threatening. AKI has been actively regulated by extracellular matrix proteins (ECM), however, its underlying mechanism of regulation during AKI progression is very poorly understood. In this study, we explored the integrated network of mRNA and microRNAs (miRNAs) that maintains the progression of ECM after induction of AKI by lethal ischemia. To identify key regulators of ECM, we screened large number of transcriptomes using laser capture microdissection (LCM) technique in addition to microarray and RT-qPCR. Our result clearly showed that 9 miRNAs including miR-21, miR-483, miR-5115, miR-204e, miR-128, miR-181c, miR-203, miR-204 and miR-204c were highly regulated, out of which miR-204 expression change (decrease) was most drastic during ischemia/reperfusion. Detail mechanistic study utilizing combined experimental and computational approach revealed that TGF-β signaling pathway was potentially modulated by deregulated miRNA-204 through SP1, where the TGF-β signaling pathway plays a vital role in ECM regulation. Apart from targeting SP1 and antagonizing epithelial-mesenchymal transition (EMT) signaling our result also showed that miR-204 protects interstitial tissue of renal tubules from chronic fibrotic change. Altogether our study provides sufficient details of how miRNA mediated ECM regulation occur during AKI, which can be effectively utilized in future for better AKI management and diagnosis.

Objective Acute kidney injury (AKI) seriously affects the health of both pregnant women and fetuses. This study aimed to investigate the clinical characteristics and prognosis of pregnancy-related AKI (PR-AKI). Methods This case series study enrolled pregnant women with PR-AKI admitted to the surgical intensive care unit of Xinhua Hospital affiliated to Shanghai Jiaotong University School of Medicine between January 2010 and December 2020. Results Thirty-one PR-AKI patients were enrolled with a mean age of 29.16 ± 4.97 years. Seventeen pregnant women (54.84%) had complete recovery of renal function, 5 (16.13%) had partial recovery of renal function, 2 (6.45%) patients had no renal function improvement, and 7 (22.58%) died. Among the 31 patients with 35 fetuses, 25 (80.6%) pregnant women had poor fetal outcomes, including 5 cases of stillbirths, 5 neonatal asphyxia, 18 premature births, 10 low birth weight, and 8 deficient birth weight infants. Compared to cases with good fetal outcomes, cases with poor fetal outcomes had significantly shorter gestational weeks (39.26 ± 1.53 vs. 31.62 ± 5.50, P  = 0.002), lower platelet count (217.13 ± 122.87 vs. 90.24 ± 84.88, P  = 0.005), lower hemoglobin (94.19 ± 13.21 vs. 74.48 ± 20.78, P  = 0.036), higher blood urea nitrogen (11.87 ± 4.28 vs. 19.47 ± 10.98, P  = 0.013), and higher uric acid (262.41 ± 167.00 vs. 586.87 ± 144.52, P  < 0.001). Conclusions The maternal renal function of women with PR-AKI might improve after treatment, but occurrence rates of adverse fetal outcomes were still high.

The stability of a thin magnetized accretion disk surrounding a young stellar object (YSO) is numerically examined. Here we adopt a somewhat more physical viscosity prescription (anomalous magnetic viscosity) than previous authors did. Our results show that, under the short wavelength approximation ( kr ≫1), viscous and thermal modes are stable, while two magneto-acoustic modes are unstable. Particularly, for the unstable modes, the values of the growth rates are smaller in the outer region than ones in the inner. It means that the growth time scales for these instabilities in the inner region are shorter than in the outer, which maybe provide an explanation for fast burst.

The structure of a thin protostar disk has been investigated in the frame of anomalous magnetic viscosity prescription. The numerical results reveal that, the dynamical behavior of the disk with anomalous magnetic viscosity model is different from one with the well-known α -prescription, and the former can reveal the real behavior of the disk. The linear stability of this disk has also been examined under the short wavelength approximation ( kr ≫1). It shows that the I-mode, O-mode and thermal mode are unstable in the inner and outer region of the thin protostar disk, on the contrary, viscous mode is stable. The growth time scale for these instabilities in the outer region are shorter than ones in the inner.

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end-stage renal failure (ESRF) early in life. The present study reports the case of a male patient presenting with multiple bilateral cortical kidney cysts at the age of 4 years, at which time the kidneys were of normal size and function. A clinical diagnosis of autosomal recessive polycystic kidney disease was made initially as the patient's parents are clinically healthy. However, the consideration of extra-renal involvements (imperforate anus at birth, preaxial polydactyly and dysplastic right ear) following the progression of the patient to ESRF at the age of 16 years, led to the diagnosis of TBS. This prompted sequencing of the SALL1 gene, which identified a novel heterozygous nonsense mutation in the mutational 'hotspot' of exon 2 (c.874C>T, p.Q292X), and this mutation was not detected in healthy controls. The current case highlights that TBS may present with normal sized, cystic kidneys in childhood, while recognition of extra-renal features of cystic kidney diseases, such as TBS, and genetic testing may facilitate the correct diagnosis and transmission mode. Reaching a correct diagnosis of as TBS is important since this condition has a 50% rate of transmission to offspring and can progress to ESRF early in life.

Knowledge of the spatial distribution of permafrost and the effects of climate on ground temperature are important for land use and infrastructure development on the Qinghai-Tibet Plateau（QTP）. Different permafrost models have been developed to simulate the ground temperature and active layer thickness（ALT）. In this study, Temperature at Top of Permafrost（TTOP） model, Kudryavtsev model and modified Stefan solution were evaluated against detailed field measurements at four distinct field sites in the Wudaoliang Basin to better understand the applicability of permafrost models. Field data from 2012 to 2014 showed that there were notable differences in observed ground temperatures and ALTs within and among the sites. The TTOP model is relatively simple, however, when driven by averaged input values, it produced more accurate permafrost surface temperature（Tps） than the Kudryavtsev model. The modified Stefan solution resulted in a satisfactory accuracy of 90%, which was better than the Kudryavtsev model for estimating ALTs. The modified Stefan solution had the potential of being applied to climate-change studies in the future. Furthermore, additional field investigations over longer periods focusing on hydrology, which has significant influence on permafrost thaw, are necessary. These efforts should employ advanced measurement techniques to obtain adequate and extensive local parameters that will help improve model accuracy.