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Phosphoserine aminotransferase deficiency diagnosed by whole-exome sequencing and LC-MS/MS reanalysis: A case report and review of literature.
Li, J, Wei, X, Sun, Y, Chen, X, Zhang, Y, Cui, X, Shu, J, Li, D, Cai, C
Molecular genetics & genomic medicine. 2024;(4):e2400
Abstract
BACKGROUND Phosphoserine aminotransferase deficiency (PSATD) is an autosomal recessive disorder associated with hypertonia, psychomotor retardation, and acquired microcephaly. Patients with PSATD have low concentrations of serine in plasma and cerebrospinal fluid. METHODS We reported a 2-year-old female child with developmental delay, dyskinesia, and microcephaly. LC-MS/MS was used to detect amino acid concentration in the blood and whole-exome sequencing (WES) was used to identify the variants. PolyPhen-2 web server and PyMol were used to predict the pathogenicity and changes in the 3D model molecular structure of protein caused by variants. RESULTS WES demonstrated compound heterozygous variants in PSAT1, which is associated with PSATD, with a paternal likely pathogenic variant (c.235G>A, Gly79Arg) and a maternal likely pathogenic variant (c.43G>C, Ala15Pro). Reduced serine concentration in LC-MS/MS further confirmed the diagnosis of PSATD in this patient. CONCLUSIONS Our findings demonstrate the importance of WES combined with LC-MS/MS reanalysis in the diagnosis of genetic diseases and expand the PSAT1 variant spectrum in PSATD. Moreover, we summarize all the cases caused by PSAT1 variants in the literature. This case provides a vital reference for the diagnosis of future cases.
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COMPARISON OF THE EFFICACY AND SAFETY OF RANIBIZUMAB 0.5 MG VERSUS 1.0 MG WITH PARS PLANA VITRECTOMY FOR THE TREATMENT OF PROLIFERATIVE DIABETIC RETINOPATHY: A Randomized Controlled Trial.
Su, T, Lai, D, Wu, Y, Gu, C, He, S, Meng, C, Cai, C, Zhang, J, Luo, D, Chen, J, et al
Retina (Philadelphia, Pa.). 2024;(4):680-688
Abstract
PURPOSE To investigate the effectiveness of two regimens of ranibizumab-assisted pars plana vitrectomy in the treatment of patients with proliferative diabetic retinopathy. METHODS This is a prospective, 6-month, randomized controlled trial. Eighty patients with 87 eyes requiring pars plana vitrectomy treatment for proliferative diabetic retinopathy were included and randomly divided into a 1.0-mg injection group and a 0.5-mg injection group. The ranibizumab was delivered intraoperatively, at the close of surgery. The vitreous hemorrhage grade, best-corrected visual acuity, central macular thickness, and safety data were assessed to Month 6. RESULTS The 1.0-mg injection group had a milder grade and a lower reoccurrence rate of early postoperatively vitreous hemorrhage than the 0.5-mg injection group (35.0% and 63.4%, respectively, P = 0.0195). The mean best-corrected visual acuity of two groups was significantly improved from baseline to 6 months after surgery, 1.60 ± 0.72 Logarithm of the Minimum Angle of Resolution (LogMAR) (<20/200) to 0.47 ± 0.49 LogMAR (20/59) for the 1.0-mg injection group and 1.51 ± 0.69 LogMAR (<20/200) to 0.50 ± 0.31 LogMAR (20/63) for the 0.5-mg injection group, but there was no significant difference between the two groups ( P = 0.74). There was no significant difference in the mean decrease in central macular thickness and probability of postoperative adverse events between the two groups. CONCLUSION Intravitreal injection of 1.0 mg of ranibizumab after pars plana vitrectomy compared with the recommended dose of 0.5 mg significantly reduced the recurrence and severity of early postoperative vitreous hemorrhage in patients with proliferative diabetic retinopathy. It also contributed to the early recovery of visual acuity after surgery and did not increase postoperative adverse events.
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Effectiveness of a socioecological model-guided, smart device-based, self-management-oriented lifestyle intervention in community residents: protocol for a cluster-randomized controlled trial.
Yang, S, Yu, B, Liao, K, Qiao, X, Fan, Y, Li, M, Hu, Y, Chen, J, Ye, T, Cai, C, et al
BMC public health. 2024;(1):32
Abstract
BACKGROUND Healthy lifestyles are crucial for preventing chronic diseases. Nonetheless, approximately 90% of Chinese community residents regularly engage in at least one unhealthy lifestyle. Mobile smart devices-based health interventions (mHealth) that incorporate theoretical frameworks regarding behavioral change in interaction with the environment may provide an appealing and cost-effective approach for promoting sustainable adaptations of healthier lifestyles. We designed a randomized controlled trial (RCT) to evaluate the effectiveness of a socioecological model-guided, smart device-based, and self-management-oriented lifestyles (3SLIFE) intervention, to promote healthy lifestyles among Chinese community residents. METHODS This two-arm, parallel, cluster-RCT with a 6-month intervention and 6-month follow-up period foresees to randomize a total of 20 communities/villages from 4 townships in a 1:1 ratio to either intervention or control. Within these communities, a total of at least 256 community residents will be enrolled. The experimental group will receive a multi-level intervention based on the socioecological model supplemented with a multi-dimensional empowerment approach. The control group will receive information only. The primary outcome is the reduction of modifiable unhealthy lifestyles at six months, including smoking, excess alcohol consumption, physical inactivity, unbalanced diet, and overweight/obesity. A reduction by one unhealthy behavior measured with the Healthy Lifestyle Index Score (HLIS) will be considered favorable. Secondary outcomes include reduction of specific unhealthy lifestyles at 3 months, 9 months, and 12 months, and mental health outcomes such as depression measured with PHQ-9, social outcomes such as social support measured with the modified Multidimensional Scale of Perceived Social Support, clinical outcomes such as obesity, and biomedical outcomes such as the development of gut microbiota. Data will be analyzed with mixed effects generalized linear models with family and link function determined by outcome distribution and accounting for clustering of participants in communities. DISCUSSION This study will provide evidence concerning the effect of a mHealth intervention that incorporates a behavioral change theoretical framework on cultivating and maintaining healthy lifestyles in community residents. The study will provide insights into research on and application of similar mHealth intervention strategies to promote healthy lifestyles in community populations and settings. TRIAL REGISTRATION NUMBER ChiCTR2300070575. Date of registration: April 17, 2023. https://www.chictr.org.cn/index.aspx .
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Contribution of non-socioeconomic factors to healthy quality of life in socioeconomically deprived patients with advanced gastrointestinal cancer: Measuring attributable fraction.
An, Z, Nie, J, Huang, Y, Fang, P, Meng, X, Cai, C, Yu, L
Journal of advanced nursing. 2024;(3):1154-1165
Abstract
BACKGROUND The quality of life of patients with advanced gastrointestinal cancer is seriously impaired, and socioeconomic deprivation often has a serious impact on their quality of life. However, little is known about the relative contribution of non-socioeconomic factors to the quality of life of patients with advanced gastrointestinal cancer with socioeconomic deprivation. AIM: This study aims to investigate the situation and predictors of quality of life of patients with socioeconomic deprivation and evaluate the independent effects of some non-socioeconomic factors. DESIGN A retrospective study based on cross-sectional design. METHODS Data were obtained from 1075 patients with advanced gastrointestinal cancer who received family palliative treatment in the hospice ward of Zhongnan Hospital of Wuhan University from March 2010 to October 2020, including demographic and clinical questionnaires, Karnofsky Performance Status scale and Cancer Pain and Quality of Life Questionnaire of Chinese Cancer Patients. RESULTS The quality of life of patients with advanced gastrointestinal cancer with socioeconomic deprivation is impaired and is affected by gait, self-care ability, abdominal distension, nutritional status, weight loss, constipation and posture. Improvement in six of these factors-gait, self-care ability, abdominal distension, nutritional status, weight loss and posture-has an independent positive impact on the development of a healthy quality of life for patients. CONCLUSIONS Gait, self-care ability, abdominal distension, nutritional status, weight loss and posture are important determinants of healthy quality of life in patients with advanced gastrointestinal cancer with socioeconomic deprivation, and early identification and strength management of these non-socioeconomic factors may neutralize the negative impact of socioeconomic factors on the quality of life. IMPLICATIONS FOR PRACTICE This study provides new ideas and intervention entry points for global nurses in practice innovations to improve the quality of life of socioeconomically deprived patients with advanced gastrointestinal cancer. It enables them to focus on the effectiveness of non-socioeconomic factors in the development and implementation of targeted care plans for patients with advanced gastrointestinal cancer experiencing socioeconomic deprivation globally. REPORTING METHOD This study was reported in strict compliance with the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guideline. PATIENT OR PUBLIC CONTRIBUTION No patient or public contribution.
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Effects of the Chinese Heart-Healthy Diet (Sichuan Cuisine Version) on the 10-year CVD risk and vascular age: a randomised controlled feeding trial.
Su, D, Chen, H, Guo, Y, Feng, Q, Yang, M, Cai, C, Zhang, Y, Wu, Y, Wang, Y, Zeng, G
The British journal of nutrition. 2024;(6):997-1006
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Abstract
Sichuan cuisine was previously fitted into the Chinese Heart-Healthy Diet (CHH) trial to verify the antihypertensive effect. Whether the modified Sichuan diet lessens cardiovascular disease (CVD) is not fully explored. We aimed to estimate the effects of the Sichuan version of CHH diet (CHH diet-SC) on the 10-year risk of CVD and vascular age. A single-blinded randomised controlled feeding trial was conducted. General CVD prediction model was used in manners of intention-to-treat and per-protocol set. After a 7-d run-in period, fifty-three participants with pre- and grade I hypertension from local communities were randomised and provided with either CHH diet-SC (n 27) or a control diet (n 26) for 4 weeks. Mean absolute and relative estimated CVD risks were reduced by 4·5 % and 27·9 % in the CHH diet-SC group, and the between-group relative risk reduction was 19·5 % (P < 0·001) using linear mixed-effects models. The sensitivity analysis with datasets and models showed consistent results, and pre-specified factors were not associated with the intervention effects. The vascular age of CHH-SC group was theoretically 4·4 years younger than that of the control group after intervention. Compared with a typical diet, adopting the CHH diet-SC over 1 month significantly reduced 10-year CVD risks and vascular ages among local adults with mild hypertension.
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Direct and indirect monitoring methods for nitrous oxide emissions in full-scale wastewater treatment plants: A critical review.
Shang, Z, Cai, C, Guo, Y, Huang, X, Peng, K, Guo, R, Wei, Z, Wu, C, Cheng, S, Liao, Y, et al
Journal of environmental management. 2024;:120842
Abstract
Mitigation of nitrous oxide (N2O) emissions in full-scale wastewater treatment plant (WWTP) has become an irreversible trend to adapt the climate change. Monitoring of N2O emissions plays a fundamental role in understanding and mitigating N2O emissions. This paper provides a comprehensive review of direct and indirect N2O monitoring methods. The techniques, strengths, limitations, and applicable scenarios of various methods are discussed. We conclude that the floating chamber technique is suitable for capturing and interpreting the spatiotemporal variability of real-time N2O emissions, due to its long-term in-situ monitoring capability and high data acquisition frequency. The monitoring duration, location, and frequency should be emphasized to guarantee the accuracy and comparability of acquired data. Calculation by default emission factors (EFs) is efficient when there is a need for ambiguous historical N2O emission accounts of national-scale or regional-scale WWTPs. Using process-specific EFs is beneficial in promoting mitigation pathways that are primarily focused on low-emission process upgrades. Machine learning models exhibit exemplary performance in the prediction of N2O emissions. Integrating mechanistic models with machine learning models can improve their explanatory power and sharpen their predictive precision. The implementation of the synergy of nutrient removal and N2O mitigation strategies necessitates the calibration and validation of multi-path mechanistic models, supported by long-term continuous direct monitoring campaigns.
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Hydroxychloroquine Attenuates hERG Channel by Promoting the Membrane Channel Degradation: Computational Simulation and Experimental Evidence for QT-Interval Prolongation with Hydroxychloroquine Treatment.
Wang, X, Feng, Y, Liu, S, Liu, J, Pan, S, Wei, L, Ma, Y, Liu, Z, Xing, Y, Wang, J, et al
Cardiology. 2023;(4):310-323
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INTRODUCTION The coronavirus disease 2019 (COVID-19) pandemic has led to millions of confirmed cases and deaths worldwide and has no approved therapy. Currently, more than 700 drugs are tested in the COVID-19 clinical trials, and full evaluation of their cardiotoxicity risks is in high demand. METHODS We mainly focused on hydroxychloroquine (HCQ), one of the most concerned drugs for COVID-19 therapy, and investigated the effects and underlying mechanisms of HCQ on hERG channel via molecular docking simulations. We further applied the HEK293 cell line stably expressing hERG-wild-type channel (hERG-HEK) and HEK293 cells transiently expressing hERG-p.Y652A or hERG-p.F656A mutants to validate our predictions. Western blot analysis was used to determine the hERG channel, and the whole-cell patch clamp was utilized to record hERG current (IhERG). RESULTS HCQ reduced the mature hERG protein in a time- and concentration-dependent manner. Correspondingly, chronic and acute treatment of HCQ decreased the hERG current. Treatment with brefeldin A (BFA) and HCQ combination reduced hERG protein to a greater extent than BFA alone. Moreover, disruption of the typical hERG binding site (hERG-p.Y652A or hERG-p.F656A) rescued HCQ-mediated hERG protein and IhERG reduction. CONCLUSION HCQ can reduce the mature hERG channel expression and IhERG via enhancing channel degradation. The QT prolongation effect of HCQ is mediated by typical hERG binding sites involving residues Tyr652 and Phe656.
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Effects of elevated CO2 on the Cd uptake by rice in Cd-contaminated paddy soils.
Yang, X, Wang, D, Tao, Y, Shen, M, Wei, W, Cai, C, Ding, C, Li, J, Song, L, Yin, B, et al
Journal of hazardous materials. 2023;:130140
Abstract
The rising atmospheric CO2 is a major driver for climate change, directly affects rice production. Cadmium (Cd) in paddy soils also serves as a persistent concern. Currently, few studies consider the rice response to coupled stresses of elevated CO2 (eCO2) and soil Cd. Experimental evidence understanding the effects and mechanisms of eCO2 on Cd uptake by rice is lacking yet. In a free-air CO2 enrichment (FACE) system, a 3-year pot experiment was conducted to explore the Cd uptake by rice under two CO2 conditions (ambient and ambient + 200 µmol·mol-1) using combinations of in-situ Cd-contaminated soils and associated rice varieties. Results showed that more low-crystalline Fe oxides (Feh) in iron plaque (IP) were deposited on root surface with the increased dissolved Fe2+ due to lower soil redox status under eCO2. The Cd accumulation in rice was hindered due to more Cd associated with Feh (Feh-Cd) rather than uptake by roots. Taken together, the relative effects of eCO2 on Cd uptake by rice were consistent across years under different Cd-contaminated soils. Our findings will help to better understand the Cd uptake by rice under future climate conditions, and thus push the development of climate-crop-soil models and accurate prediction for food security.
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Progress and Perspective of Glass-Ceramic Solid-State Electrolytes for Lithium Batteries.
Lin, L, Guo, W, Li, M, Qing, J, Cai, C, Yi, P, Deng, Q, Chen, W
Materials (Basel, Switzerland). 2023;(7)
Abstract
The all-solid-state lithium battery (ASSLIB) is one of the key points of future lithium battery technology development. Because solid-state electrolytes (SSEs) have higher safety performance than liquid electrolytes, and they can promote the application of Li-metal anodes to endow batteries with higher energy density. Glass-ceramic SSEs with excellent ionic conductivity and mechanical strength are one of the main focuses of SSE research. In this review paper, we discuss recent advances in the synthesis and characterization of glass-ceramic SSEs. Additionally, some discussions on the interface problems commonly found in glass-ceramic SSEs and their solutions are provided. At the end of this review, some drawbacks of glass-ceramic SSEs are summarized, and future development directions are prospected. We hope that this review paper can help the development of glass-ceramic solid-state electrolytes.
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Prognostic Value of Four Preimplantation Malnutrition Estimation Tools in Predicting Heart Failure Hospitalization of the Older Diabetic Patients with Right Ventricular Pacing.
Fu, B, Yu, Y, Cheng, S, Huang, H, Long, T, Yang, J, Gu, M, Cai, C, Chen, X, Niu, H, et al
The journal of nutrition, health & aging. 2023;(12):1262-1270
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OBJECTIVES The prognostic value of preimplantation nutritional status is not yet known for older diabetic patients that received right ventricular pacing (RVP). The study aimed to investigate the clinical value of the four malnutrition screening tools for the prediction of heart failure hospitalization (HFH) in older diabetic patients that received RVP. DESIGN Retrospective observational cohort study. SETTING AND PARTICIPANTS This study was conducted between January 2017 and January 2018 at the Fuwai Hospital, Beijing, China, and included older (age ≥ 65 years) diabetic patients that received RVP for the first time Measurements: The Prognostic Nutritional Index (PNI), Geriatric Nutritional Risk Index (GNRI), Naples Prognostic Score (NPS), and the Controlling Nutritional Status (CONUT) score were used to estimate the preimplantation nutritional status of the patients. Univariate and multivariate Cox proportional hazard regression analyses were performed to investigate the association between preimplantation malnutrition and HFH. RESULTS Overall, 231 older diabetic patients receiving RVP were included. The median follow-up period after RVP was 53 months. HFH was reported for 19.9% of the included patients. Our results showed preimplantation malnutrition for 18.2%, 15.2%, 86.6% and 66.2% of the included patients based on the PNI, GNRI, NPS, and CONUT score, respectively. The cumulative rate of HFH during follow-up period was significantly higher for patients in the preimplantation malnutrition group based on the PNI (log-rank = 13.0, P = 0.001), GNRI (log-rank = 8.5, P = 0.01), and NPS (log-rank = 15.7, P < 0.001) compared to the normal nutrition group, but was not statistically significant for those in the preimplantation malnutrition group based on the CONUT score (log-rank = 2.7, P = 0.3). As continuous variables, all the nutritional indices showed significant correlation with HFH (all P < 0.05). However, multivariate analysis showed that only GNRI was independently associated with HFH (HR = 0.97, 95% CI: 0.937-0.997, P = 0.032). As categorical variables, PNI, GNRI, and NPS showed significant correlation with HFH. After adjustment of confounding factors, moderate-to-severe degree of malnutrition was an independent predictor of HFH based on the PNI (HR = 4.66, 95% CI: 1.03-21.00, P = 0.045) and GNRI (HR = 3.02, 95% CI: 1.02-9.00, P = 0.047). CONCLUSION Preimplantation malnutrition was highly prevalent in older diabetic patients that received RVP. The malnutrition prediction tools, PNI and GNRI, showed significant prognostic value in accurately predicting HFH in older diabetic patients with RVP.