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Objective: To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS)., Methods: DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members., Results: Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant., Conclusion: The c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child. Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.

Efficient catalysts for the oxygen evolution reaction (OER) are critical to the progress of electrochemical devices for clean energy conversion and storage. Although heterogeneous electrocatalysts have superior activity, it is a great challenge to elucidate electron transfer at surface catalytic sites and intrinsic mechanisms. Herein, we demonstrate a new type of heterostructure electrocatalyst in which Sr 0.9 Ce 0.05 Fe 0.95 Ru 0.05 O 3 fibers are hybridized with in situ grown RuO 2 nanoparticles (SCFR-RuO 2 ). We investigate its unique structure, electron transfer mechanisms related to the highly OER activity by combining experimental and theoretical calculations. Remarkably, SCFR-RuO 2 shows an optimized OER overpotential of 295 mV at 10 mA cm -2 . The promoted electron transfer and OER kinetics are ascribed to the coupling of electronic effects at the SCFR-RuO 2 heterostructure. A strong triangular relationship among overpotential-Tafel slope-work function is proposed to be a potential descriptor of OER activity in SCFR-RuO 2 . These insights provide guidelines for tuning the OER performance via modified work functions in perovskite electrocatalysts.

A fourth dose of a COVID-19 vaccine has been recommended by a number of authorities due to waning immunity over time and the emergence of immune-escaping variants. Here, we evaluated the safety and immunogenicity of the bivalent BV-01-B5 or V-01D-351 or the prototype V-01 for heterologous boosting in three-dose inactivated COVID-19 vaccine (ICV) recipients, in comparison with ICV homologous boosting. One pilot study (NCT05583357) included 20 participants randomized at 1:1, either receiving V-01D-351 or CoronaVac. The other one (NCT05585567) recruited 36 participants randomized at 2:1, either receiving BV-01-B5 or V-01, respectively. BV-01-B5, V-01D-351, and V-01 were safe and well-tolerated as heterologous booster shots after three doses of ICV, with adverse reactions predominantly being mild and moderate in severity, similar to the safety profile of ICV boosters. The bivalent V-01D-351 and BV-01-B5 and prototype V-01 booster demonstrated remarkable cross-reactive immunogenicity against the prototype and multiple emerging variants of concern (VOCs), with the geometric mean ratio (versus CoronaVac) in particular being 31.3 (500 vs. 16), 12.0 (192 vs. 16) and 8.5 (136 vs.16) against BA.4/5 14 days after the booster, respectively. Taken together, the modified bivalent-formulation V-01 boosters induced robust neutralizing responses against multiple Omicron sublineages, better than V-01 and remarkably superior to ICV booster, without compromising the safety and tolerability.

Porous structure design and the content regulation of heteroelements have been proved to be effective strategies to boost photocatalytic H 2 generation activity of graphitic carbon nitride (g-C 3 N 4 ) based photocatalyst. Herein, a series of porous graphitic carbon nitride with high concentration of oxygen (g-C 3 N 4 -O) photocatalysts were synthesized via in situ polymerization process using colloidal SiO 2 as oxygen source. The content of oxygen within the g-C 3 N 4 -O photocatalysts could be tuned by adjusting the amount of added colloidal SiO 2 during the preparation procedure. The introduced oxygen replaced two-coordinated nitrogen atom, influencing band edge position and localized electron distribution, thereby enhancing visible light harvesting and photoelectric conversion. As a result, the g-C 3 N 4 -O photocatalyst with an optimal oxygen content (8.39 wt%) showed 10.5 fold enhancement in H 2 evolution rate compared to that of bulk g-C 3 N 4 , attributed to the porous structure and high concentration of incorporated oxygen., Competing Interests: There are no conflicts to declare., (This journal is © The Royal Society of Chemistry.)

Background: Ovarian cancer has the highest mortality among all gynecological malignancies; currently, no effective therapeutics are available for its treatment. Naringenin has been shown to inhibit the progression of various cancers, but its inhibitory effect on ovarian cancer remains unknown., Purpose: This study aimed to evaluate the inhibitory effects of naringenin on ovarian cancer and elucidate the underlying mechanisms., Methods: Cancer cell proliferation was detected by cell counting kit-8 and crystal violet assays, and the migration capability was determined by wound healing and transwell assays. Western blotting and immunohistochemistry assays were employed to determine the expression levels of the epidermal growth factor receptor, phosphatidylinositol 3-kinase (PI3K) and cyclin D1 in vitro and in vivo, respectively. An ES-2 xenograft nude mouse model was established for the in vivo experiments, and fecal samples were collected for intestinal microbiota analysis by 16S rDNA sequencing., Results: Naringenin suppressed the proliferation and migration of A2780 and ES-2 cancer cell lines and downregulated PI3K in vitro. In animal experiments, naringenin treatment significantly decreased the tumor weight and volume, and oral administration exhibited greater effects than intraperitoneal injection. Additionally, naringenin treatment ameliorated the population composition of the microbiota in animals with ovarian cancer and significantly increased the abundances of Alistipes and Lactobacillus., Conclusion: Naringenin suppresses epithelial ovarian cancer by inhibiting PI3K pathway expression and ameliorating the gut microbiota, and the oral route is more effective than parenteral administration., Competing Interests: Declaration of Competing Interest We wish to confirm that there are no known conflicts of interest associated with this publication and there has been no significant financial support for this work that could have influenced its outcome, (Copyright © 2022. Published by Elsevier GmbH.)

Background: Migraineurs are often plagued by sleep disorders. The university student population is high in number and is more vulnerable to migraines. However, no study has analyzed the sleep quality of students with migraine and related contributing factors. Objective: We used the Pittsburgh Sleep Quality Index (PSQI) scale to assess the sleep of migraine patients among college students and to explore the influencing factors of sleep quality. Methods: We performed primary screening for migraine using the ID-migraine screening, and further assessed headache characteristics, sleep, anxiety, depression, and mobile phone addiction in college students with positive primary screening, then diagnosed migraine according to the third edition of the International Classification of Headache Disorders (ICHD-3). Finally, we analyzed the factors influencing sleep quality using Binary Logistic Regression Analysis. Those with scores greater than 5 points on the PSQI scale were believed to have poor sleep quality. Results: The prevalence of migraine was 6.6%. A total of 545 migraineurs were eventually included in the analysis, the incidence of poor sleep quality was 64.04%. The three factors of experiencing aura (OR = 2.966, 95%CI = 1.756-5.010, P < 0.05), anxiety (OR = 2.778, 95%CI = 1.434-5.382, P < 0.05), and high Mobile phone addiction index (MPAI) score (OR = 1.025, 95%CI = 1.002-1.049, P < 0.05) contributed enormously to poor sleep quality. Moreover, the factors of aura symptoms (OR = 3.796, 95%CI = 2.041-7.058, P < 0.05), anxiety (OR = 3.146, 95%CI = 1.473-6.719, P < 0.05), and MPAI score (OR = 1.028, 95%CI = 1.002-1.054, P < 0.05) influenced the sleep quality of female migraineurs rather than male migraineurs. Conclusions: The incidence of poor sleep quality is high among university students with migraine. Aura symptoms, anxiety, and high MPAI score influence the sleep quality of migraineurs, especially females. The proposal of prevention and intervention measures is of great importance to the physical and mental health of students with migraine. Clinical Trial Registration: identifier ChiCTR1800014343., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Zhao, Cen, Yang, Liu, Li, Ren, Xiao, He, Luo, Zhong, Luo, Wu and Luo.)

Background: Elevated monocyte-to-high-density lipoprotein-cholesterol ratio (MHR) is relevant to higher all-cause and cardiovascular mortality in patients with coronary artery disease and other comorbidities. However, the predictive values of MHR for mortality in the general population have been underutilized. This study investigated the association of MHR with all-cause and cardiovascular mortality in the adult population of the United States., Methods: This study included 34,335 participants (≥20 years) from the National Health and Nutrition Examination Survey 1999-2014 that were grouped according to MHR tertiles. Kaplan-Meier plots and long-rank tests were employed to investigate differences in survival among the groups. Moreover, the relationship of MHR with all-cause and cardiovascular mortality was further explored using multivariate Cox regression and restricted cubic spline analysis., Results: During the average follow-up of 93.5 ± 56 months, 4310 (12.6%) participants died, with 754 (2.2%) deaths attributed to cardiovascular diseases. Kaplan-Meier analysis revealed statistically obvious differences in all-cause and cardiovascular mortality among the MHR tertiles (log-rank test: all P < 0.001). In multi-adjusted models, participants in the highest tertile of MHR had an increased risk of all-cause (hazard ratio [HR] = 1.19, 95% confidence interval [CI] 1.10-1.29) and cardiovascular mortality (HR = 1.44, 95% CI 1.17-1.77), compared to those in the lowest tertile. Furthermore, the restricted cubic spline curve indicated that MHR had a non-linear association with all-cause mortality (P < 0.001), and the inflection point of MHR was 0.006. Each 2-fold change in MHR exhibited a 32% decrease (HR = 0.68, 95%CI 0.58-0.82) and a 20% increase (HR = 1.20, 95%CI 1.13-1.27) in the risk of all-cause mortality on the left and right flanks of the inflection point, respectively. Additionally, the risk of cardiovascular mortality increased by 21% per 2-fold change in MHR (HR = 1.21, 95%CI 1.07-1.36) in a linear manner., Conclusions: MHR was significantly related to all-cause and cardiovascular mortality in the general population independent of established risk factors., (© 2022. The Author(s).)

Type I interferon is promising in treating different kinds of tumors, but has been limited by its toxicity, lack of tumor targeting, and very short half-life. To target tumors, reduce systemic toxicity, and increase half-life, here we engineer a masked type I IFN-Fc (ProIFN) with its natural receptor connected by a cleavable linker that can be targeted by tumor-associated proteases. ProIFN has a prolonged serum half-life and shows an improved tumor-targeting effect. Interestingly, ProIFN-treated mice show enhanced DC cross-priming and significant increased CD8 + infiltration and effector function in the tumor microenvironment. ProIFN is able to improve checkpoint blockade efficacy in established tumors, as well as radiation efficacy for both primary and metastatic tumors. ProIFN exhibits superior long-term pharmacokinetics with minimal toxicity in monkeys. Therefore, this study demonstrates an effective tumor-activating IFN that can increase targeted immunity against primary tumor or metastasis and reduce periphery toxicity to the host., (© 2021. The Author(s).)

Aim: To explore the potential functions and mechanism of N 6 .methyladenosine (m 6 A) abnormality of RNAs in nucleus pulposus from the intervertebral disc degeneration (IDD). Materials & methods: We performed rat model, m 6 A epitranscriptomic microarray, bioinformatics analysis and metabolomics. Results: In IDD, most of the differentially methylated RNAs showed a significant demethylation situation. The competing endogenous RNA network LOC102555094 / miR-431 / GSK-3β combining downstream Wnt pathway were identified in bioinformatics analysis. For metabolomics, activation of Wnt pathway led to reprogramming of glucose metabolism and enzyme activation of PKM2 . Finally, quantitative real-time PCR and methylated RNA immunoprecipitation coupled with quantitative real-time PCR revealed the positive correlation between demethylation of LOC102555094 and expression of both FTO and ZFP217 . Conclusion: LOC102555094 might be demethylated by ZFP217, activating FTO and LOC102555094 / miR-431 / GSK-3β /Wnt played a crucial role in IDD.