[Genetic analysis of a child with Primary hypertrophic osteoarthropathy].

OBJECTIVE: To explore the genetic etiology of a child with Primary hypertrophic osteoarthropathy. METHODS: A child who was admitted to Zhongnan Hospital of Wuhan University on July 27, 2021 was selected as the study subject. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to whole exome sequencing. Suspected splicing variant was verified by Sanger sequencing of family members. In vitro function was validated through a minigene assay, whilst the suspected exonic deletion was validated by long-fragment PCR. RESULTS: Whole exome sequencing revealed that the child has harbored compound heterozygous variants of HPGD gene, including a heterozygous deletion (exon 3 del) derived from his father and a splicing variant (c.421+1G>T) derived from his mother. Long-fragment PCR verified that the child and his father had both harbored a 7 565 bp heterozygous deletion (c.218-1304_324+6156del), whilst the minigene assay proved that the splicing variant has resulted in skipping of exon 4. CONCLUSION: The heterozygous c.218-1304_324+6156del deletion and the c.421+1G>T splicing variant of the HPGD gene probably underlay the pathogenesis in this child. Above finding has enriched the mutational spectrum of the HPGD gene and provided a basis for genetic counseling and prenatal diagnosis for this family.

Belief in a just world and organisational loyalty: Trust as an underlying mechanism.

This research examined whether employees' personal belief in a just world (BJW) is associated with their organisational loyalty and whether this relationship is statistically mediated by organisational trust. To test these hypotheses, we conducted two studies with employees from China (study 1, N = 314) and Germany (study 2, N = 189). The results from both studies supported the proposed model. In addition, study 2 revealed that the relationship between BJW and organisational loyalty persisted when controlling for global personality traits. These suggest that managers and organisations may increase employees' loyalty by providing an environment that fosters their sense of justice and trust.

Human umbilical cord mesenchymal stem cell-derived exosomes carrying miR-1827 downregulate SUCNR1 to inhibit macrophage M2 polarization and prevent colorectal liver metastasis.

microRNA-1827 (miR-1827) is proposed to be enriched in exosomes from mesenchymal stem cells (MSCs-Exos). A recent study has addressed the suppressive effect of exosomes from human umbilical cord mesenchymal stem cells (hUC-MSCs-Exos) on colorectal cancer (CRC) metastasis. Hence, our study aims at investigating whether hUC-MSCs-Exos can modulate the liver metastasis in CRC by mediating miR-1827. Transmission electron microscopy (TEM) and nanoparticle tracking analysis (NTA) were used to identify hUC-MSCs-Exos. Using gain- and loss-of-function approaches, the expression of miR-1827 and succinate receptor 1 (SUCNR1) was altered. Consequently, the biological functions of CRC cells were assessed by CCK-8 and Transwell assays and macrophage M2 polarization was assayed by flow cytometry. Dual-luciferase reporter assay was applied to clarify interaction between miR-1827 and SUCNR1. CRC cells were incubated with hUC-MSCs-Exos and tumor-bearing mice were injected with hUC-MSCs-Exos to examine the effects on CRC cell growth and metastasis. SUCNR1, lowly expressed in CRC, could promote CRC cell growth and macrophage M2 polarization. miR-1827 could target SUCNR1 and hence suppress the progression and metastasis of CRC. hUC-MSCs-Exos carried miR-1827 to inhibit M2 macrophage polarization by downregulating SUCNR1 expression, and inhibited proliferating, migrating and invading properties of CRC cells. Furthermore, hUC-MSCs-Exos carrying miR-1827 blocked CRC liver metastasis in vivo. These findings indicate hUC-MSCs-Exos as an inhibitor of M2 macrophage polarization and liver metastasis in CRC through inducing miR-1827-targeted inhibition of SUCNR1. This provides a theoretical basis for understanding the mechanisms underlying Exos-based target therapy for CRC.

The comprehensive study on the role of POSTN in fetal congenital heart disease and clinical applications.

BACKGROUND: Congenital heart defect (CHD) is the most common congenital abnormality, and it has long been a clinical and public health concern. Our previous findings have found Periostin (POSTN) and Pappalysin-1 (PAPPA) as potential biomarkers for fetal CHD. We aim to further elucidate POSTN's role in fetal heart development and explore the clinical applicability of POSTN and PAPPA as diagnostic marker for fetal CHD. This study is poised to establish a theoretical framework for mitigating the incidence of CHD and advance a novel approach for prenatal screening of fetal CHD. METHODS: We verified differential expression of POSTN and PAPPA in gravida serum and fetal amniotic fluid based on our previous research. We established the Postn knockout mouse by CRISPR/Cas9 to investigate whether Postn deletion leads to cardiac abnormalities in mice. Besides, we explored the mechanism of POSTN on heart development through Postn knockout mouse model and cell experiments. Finally, we established the logistic regression model and decision curve analysis to evaluate the clinical utility of POSTN and PAPPA in fetal CHD. RESULTS: We observed a significant decrease in POSTN and increase in PAPPA in the CHD group. Atrial septal defects occurred in Postn-/- and Postn± C57BL/6 fetal heart, while ventricular septal defects with aortic saddle were observed in Postn± C57BL/6 fetal heart. Disruption of the extracellular matrix (ECM) in cardiomyocytes and multiple abnormalities in cellular sub-organelles were observed in Postn knockout mice. POSTN may positively regulate cell behaviors and unsettle ECM via the TGFß-Smad2/3 signaling pathway. The combination of serum biomarkers POSTN and PAPPA with Echocardiogram can enhance the diagnostic accuracy of CHD. Furthermore, the comprehensive model including POSTN, PAPPA, and two clinical indicators (NT and age) exhibits significantly higher predictive ability than the diagnosis group without the use of serum biomarkers or clinical indicators. CONCLUSIONS: It is the first evidence that Postn deletion leads to cardiac developmental abnormalities in fetal mice. This may involve the regulation of the TGFß signaling pathway. Importantly, POSTN and PAPPA possess clinical utility as noninvasive prenatal promising screening indicators of CHD.

Authentic leadership and employee resilience during the COVID-19: The role of flow, organizational identification, and trust.

The present work investigated fundamental mediating mechanisms (i.e., flow experience, organizational identification, and trust), underlining the impact of authentic leadership on employee resilience during the turbulent COVID-19 pandemic. A total of 901 frontline employees working in a construction engineering company in China participated in this study. They were asked to respond to a battery of questionnaires comprising Trust Scale (affective-based, cognitive-based, and competence-based), Flow Proneness Questionnaire (FPQ), Organizational Identification Scale, Authentic Leadership Questionnaire, and Employee Resilience Scale. Results of structural equation modeling indicated that: (1) Authentic leadership positively predicted employee resilience in the COVID-19 pandemic, directly and indirectly. (2) As for the indirect relationship, two parallel mediation effects and one chain mediation were detected: employees' flow at work and organizational identification respectively and dependently mediated the relationship between authentic leadership and employee resilience; trust and organizational identification played as a chain mediation role within authentic leadership-employee resilience association. The study provides empirical evidence for organizations' resilience-building and leadership training programs. Findings also contribute to the literature by facilitating flow intervention, promoting organizational identification and trust to enhance the effect of authentic leadership in promoting positive psychological functioning of employee resilience. Limitations with respect to future research directions were also outlined.

Novel methods to determine complement activation in human serum induced by the complex of Dezamizumab and serum amyloid P.

Lack of simple and robust methods to determine complement activation in human serum induced by antigen-antibody complexes is a major hurdle for monitoring therapeutic antibody drug quality and stability. Dezamizumab is a humanized IgG1 monoclonal antibody that binds to serum amyloid P component (SAP) for potential treatment of systemic amyloidosis. The mechanism of action of Dezamizumab includes the binding of SAP, complement activation through classical pathway, and phagocytosis; however, the steps in this process cannot be easily monitored. We developed two novel methods to determine Dezamizumab-SAP complex-induced complement activation. Complement component 3 (C3) depletion was detected by homogeneous time-resolved fluorescence (HTRF), and C3a desArg fragment, formed after the cleavage of C3 to yield C3a followed by removal of its C-terminal arginine residue, was determined using Meso Scale Discovery (MSD) technology. We found that the presence of both Dezamizumab and SAP was required for complement activation via both methods. The optimal molar ratio of Dezamizumab:SAP was 6:1 in order to obtain maximal complement activation. The relative potency from both methods showed a good correlation to Dezamizumab-SAP-dependent complement component 1q (C1q) binding activity in Dezamizumab thermal-stressed samples. Both SAP and C1q binding, as determined by surface plasmon resonance and the two complement activation potency methods described here, reflect the mechanism of action of Dezamizumab. We conclude that these methods can be used to monitor Dezamizumab quality for drug release and stability testing, and the novel potency methods reported here can be potentially used to evaluate complement activity induced by other antigen-antibody complexes.

Ferroptosis-related gene SLC1A5 is a novel prognostic biomarker and correlates with immune infiltrates in stomach adenocarcinoma.

BACKGROUND: Stomach adenocarcinoma (STAD) is associated with high morbidity and mortality rates. Ferroptosis is an iron-dependent form of cell death, which plays an important role in the development of many cancers. Tumor-associated competing endogenous RNAs (ceRNAs) regulate tumorigenesis and development. Our study aimed to construct ceRNA networks and explore the relationship between ferroptosis-related genes in the ceRNA network and immune infiltration in STAD. METHODS: Based on the interactions among long noncoding RNAs (lncRNAs), microRNAs (miRNAs), and messenger RNAs (mRNAs), a ceRNA network was constructed to illustrate the relationships among lncRNAs, miRNAs, and mRNAs. Subsequently, gene ontology (GO) and Kyoto encyclopedia of genes and genomes (KEGG) functional enrichment analyses were carried out to explore the functions and interactions of the differentially expressed (DE) mRNAs related to the ceRNA network. Differential expression and prognostic analysis of ferroptosis-related genes in the ceRNA network were performed using the R package "limma" and "survminer." The correlation between ferroptosis-related genes and tumor-infiltrating immune cells was analyzed using Spearman correlation analysis and CIBERSORT. Quantitative real-time PCR (qRT-PCR) was used to validate the expression of ferroptosis-related genes in STAD cells lines. RESULTS: A ceRNA network consisting of 29 DElncRNAs, 31 DEmiRNAs, and 182 DEmRNAs was constructed. These DEmRNAs were significantly enriched in pathways related to the occurrence and development of STAD. The ferroptosis-related gene SLC1A5 was upregulated in STAD (P < 0.001) and was associated with better prognosis (P = 0.049). The CIBERSORT database and Spearman correlation analysis indicated that SLC1A5 was correlated with eight types of tumor-infiltrating immune cells and immune checkpoints, including PD-L1(CD-274) and PD-1(PDCD1). The SLC1A5 mRNA was found to be highly expressed in STAD cells lines. CONCLUSIONS: Our study provides insights into the function of ceRNAs in STAD and identifies biomarkers for the development of therapies for STAD. The ferroptosis-related gene SLC1A5 in the ceRNA network was associated with both tumor-infiltrating immune cells and immune checkpoints in the tumor microenvironment, suggesting that SLC1A5 may be a novel prognostic marker and a potential target for STAD immunotherapy in the future.

Crossed cerebellar diaschisis after acute ischemic stroke detected by intravoxel incoherent motion magnetic resonance imaging.

PURPOSE: To study the value of 3.0 T magnetic resonance imaging with intravoxel incoherent motion (IVIM) in the diagnosis of the crossed cerebellar diaschisis (CCD) after the unilateral supratentorial acute ischemic stroke. METHODS: Seventy-four patients with acute ischemic stroke who underwent intravoxel incoherent motion (IVIM), arterial spin labeling (ASL), and conventional magnetic resonance imaging (MRI) scanning were enrolled. Intravoxel incoherent motion-derived perfusion-related parameters including fast diffusion coefficient (D*), slow diffusion coefficient (D), vascular volume fraction (f), and arterial spin-labeling-derived cerebral blood flow (CBF) of bilateral cerebellum were measured. RESULTS: In the CCD-positive group, D*, D, and CBF values of the contralateral cerebellum decreased compared with those of the ipsilesional cerebellum (P < 0.05), whereas f significantly increased (P < 0.05). A positive correlation was detected between the slow diffusion coefficient-based asymmetry index (AI-D) and the cerebral blood flow-based asymmetry index (AI-CBF) (r = 0.515, P < 0.01), whereas the vascular volume fraction-based asymmetry index (AI-f) had a negative correlation with the cerebral blood flow-based asymmetry index (AI-CBF) (r = - 0.485, P < 0.01). Furthermore, the area under the receiver operating characteristic (ROC) curve value of AI-D and AI-f was 0.81 and 0.76, respectively. CONCLUSIONS: The IVIM is feasible for the detection of CCD. This technique might provide opportunities to further investigate the pathophysiology of CCD.

A comparative study of three nutritional risk screening tools in surgical inpatients with laryngeal cancer.

BACKGROUND AND OBJECTIVES: Nutritional screening has been recommended for hospitalized patients. The goal of this study was to compare the screening value of Nutritional Risk Screening 2002 (NRS-2002), Malnutrition Universal Screening Tool (MUST), and Malnutrition Screening Tool (MST) in inpatients with laryngeal cancer, and to identify which is the most accurate. METHODS AND STUDY DESIGN: An observational cross-sectional study of 197 laryngeal cancer patients admitted for surgery was conducted using continuous sampling. NRS-2002, MUST, and MST were used to screen the nutritional risk of patients after admission and before discharge. Diagnostic information and the length-of-hospital stay (LOS) data were extracted from the hospital HIS system. RESULTS: The detection rates of NRS-2002, MUST, and MST in admission or discharge patients were 14.7%/27.9%, 22.3%/26.9%, and 4.6%/11.2%, respectively. Using NRS-2002 as the reference, high sensitivity (82.8%) and a Kappa coefficient (k=0.584) were achieved using MUST in admission patients, while MST presented the lowest sensitivity (17.3%) and Kappa coefficient (k=0.208). MST maintained low sensitivity (25.5%) and Kappa coefficient (k=0.243) in discharge patients. NRS-2002 ≥3 was an independent risk factor for longer LOS in patients with laryngeal cancer (odds ratio (OR)=5.59, 95% confidence interval (CI)=1.86-16.81, p=0.002). The MUST and MST scores did not predict long LOS. CONCLUSIONS: Compared with NRS-2002, MUST is superior to MST in sensitivity, specificity, and Kappa coefficient. NRS-2002 better identified patients at risk for longer LOS, but a consistent conclusion was not reached with MUST and MST. Further validation in larger samples is needed.

A cross-sectional survey of nutrition labelling use and its associated factors on parents of school students in Shanghai, China.

OBJECTIVE: To understand parents' knowledge and use of nutrition labelling and to explore its associated factors. DESIGN: Cross-sectional survey. SETTING: Two schools providing a nine-year educational programme in Putuo District, Shanghai, China, were selected for the study. Information was included on demographic data and knowledge of the Chinese Food Pagoda. SUBJECTS: Students and their parents (n 1770) participated in a questionnaire survey. RESULTS: Of questionnaires, 1766 were completed (response rate 99·8 %). Utilization rate of nutrition labelling was 19·3 %. Among 624 parents knowing nutrition labelling, 22·1 % understood all the information included, 70·7 % understood it partially and 7·2 % could not understand it at all. Use of nutrition labelling by parents was related to the following factors (OR; 95 % CI): high educational level of parent (1·465; 1·165, 1·841), parent's knowledge of the Chinese Food Pagoda (1·333; 1·053, 1·688), parent's consumption of top three snacks which are unhealthy (1·065; 1·023, 1·109), parent's assumption that nutrition labelling would affect their choice of food (1·522; 1·131, 2·048), student's willingness to learn about labels (1·449; 1·093, 1·920) and student's knowledge and use of labels (2·214; 1·951, 2·513). CONCLUSIONS: Parents' knowledge and use of nutrition labelling are still at a lower level, and some information included in the nutrition labels is not understood by parents. The forms of the existing nutrition labelling need to be continuously improved to facilitate their understanding and usefulness. It is necessary to establish nutrition projects focusing on education and use of nutrition labels which help parents and their children make the right choices in selecting foods.

Efficient removal of heavy metals from melting effluent using multifunctional hydrogel adsorbents.

It is hard to balance high water permeability and good mechanical strength of hydrogel adsorbents. In this study, an enhanced double network hydrogel adsorbent of poly (vinyl alcohol)/poly(2-acrylamido-2-methyl-1-propanesulfonic acid) (PVA/PAMPS) was prepared via simple free-radical polymerization. Hydrophilic PAMPS guaranteed high swellability of the adsorbent, which made the sufficient diffusion of metal ions towards adsorbent inside. Meanwhile, the cross-linkage between PVA and PAMPS chains ensured good mechanical strength of the adsorbent. Significantly, the introduction of multifunctional groups (-NHR, -SO3H and -OH) endowed the adsorbent with both chelation and ion exchange function for enhancing heavy metal adsorption. The maximum adsorption capacities of Pb2+ and Cd2+ reached 340 and 155.1 mg/g, respectively. The adsorbent could efficiently remove heavy metals in melting effluent, especially Pb2+ and Cd2+. The removal efficiencies reached 88.1% for Pb2+, 91.4% for Cd2+, 70.4% for Zn2+, 77.4% for Cu2+, 42.5% for Mn2+, 45.1% for Ni2+ and 95.4% for Fe3+ using 2 g/L adsorbent in 2 h. Moreover, the adsorbent showed a good reusability, and the removal efficiencies maintained 94% for Pb2+ and 93% for Cd2+ in the fifth cycle (m/V = 1 g dry gel/L). This work developed a highly practical hydrogel adsorbent for heavy metal removal from wastewater.

Acceptability and feasibility of smartphone-assisted 24 h recalls in the Chinese population.

OBJECTIVE: To examine the acceptability and feasibility of using smartphone technology to assess beverage intake and evaluate whether the feasibility of smartphone use is greater among key sub-populations. DESIGN: An acceptability and feasibility study of recording the video dietary record, the acceptability of the ecological momentary assessment (EMA), wearing smartphones and whether the videos helped participants recall intake after a cross-over validation study. SETTING: Rural and urban area in Shanghai, China. SUBJECTS: Healthy adults (n 110) aged 20-40 years old. RESULTS: Most participants reported that the phone was acceptable in most aspects, including that videos were easy to use (70%), helped with recalls (77%), EMA reminders helped them record intake (75%) and apps were easy to understand (85%). However, 49% of the participants reported that they had trouble remembering to take videos of the beverages before consumption or 46% felt embarrassed taking videos in front of others. Moreover, 72% reported that the EMA reminders affected their consumption. When assessing overall acceptability of using smartphones, 72% of the participants were favourable responders. There were no statistically significant differences in overall acceptability for overweight v. normal-weight participants or for rural v. urban residents. However, we did find that the overall acceptability was higher for males (81%) than females (61%, P=0·017). CONCLUSIONS: Our study did not find smartphone technology helped with dietary assessments in a Chinese population. However, simpler approaches, such as using photographs instead of videos, may be more feasible for enhancing 24 h dietary recalls.

Establishing self-concordant goals: a longitudinal study on the influence of ego identity on goal self-concordance.

Introduction: Self-concordant goals are those that align closely with an individual's intrinsic interests and values, driving autonomous motivation, and resulting in higher satisfaction and goal achievement. The relevance of studying the link between ego identity and goal self-concordance lies in understanding how a well-defined ego identity can foster the pursuit of authentic and fulfilling goals. Objectives: This study investigates the relationship between ego identity and goal self-concordance, focusing on how individuals' sense of identity influences their alignment with personal goals. Methods: Data were gathered through a cross-sectional analysis of 292 students and a longitudinal follow-up with 98 participants over two intervals. Results: Results confirmed significant correlations between ego identity status and various dimensions of goal self-concordance. Notably, different ego identity statuses exhibited distinct levels of goal self-concordance, ranked from highest to lowest as follows: identity achievement, achievement-foreclosure intermediate, moratorium, foreclosure, moratorium-diffusion intermediate, and diffusion. Cross-lagged analysis revealed a causal relationship where ego identity influences goal self-concordance, providing insights into the cognitive and behavioral processes involved in goal setting. Discussion: This study extends the implications of the goal self-concordance model and reveals a causal relationship between ego identity status and goal self-concordance. From a practical perspective, our findings suggest that educational and developmental interventions aimed at supporting identity development and commitment could lead to more self-concordant goal setting. Such programs could ultimately promote greater well-being and personal growth among students.

Glucose metabolism reprogramming in gynecologic malignant tumors.

The incidence and mortality of gynecological tumors are progressively increasing due to factors such as obesity, viral infection, unhealthy habits, as well as social and economic pressures. Consequently, it has emerged as a significant threat to women's health. Numerous studies have revealed the remarkable metabolic activity of tumor cells in glycolysis and its ability to influence malignant biological behavior through specific mechanisms. Therefore, it is crucial for patients and gynecologists to comprehend the role of glycolytic proteins, regulatory molecules, and signaling pathways in tumorigenesis, progression, and treatment. This article aims to review the correlation between abnormal glucose metabolism and gynecologic tumors including cervical cancer (CC), endometrial carcinoma (EC), and ovarian cancer (OC). The findings from this research will provide valuable scientific insights for early screening, timely diagnosis and treatment interventions while also aiding in the prevention of recurrence among individuals with gynecological tumors.

Psychometric properties of stigma and discrimination measurement tools for persons living with HIV: a systematic review using the COSMIN methodology.

BACKGROUND: The development of antiretroviral therapy broadly extends the life expectancy of persons living with HIV (PLHIV). However, stigma and discrimination are still great threat to these individuals and the world's public health care system. Accurate and reproducible measures are prerequisites for robust results. Therefore, it is essential to choose an acceptable measure with satisfactory psychometric properties to assess stigma and discrimination. There has been no systematic review of different stigma and discrimination tools in the field of HIV care. Researchers and clinical practitioners do not have a solid reference for selecting stigma and discrimination measurement tools. METHODS: We systematically searched English and Chinese databases, including PubMed, EMBASE, CINAHL, Web of Science, PsycINFO, ProQuest Dissertations and Theses, The Cochrane Library, CNKI,, and Wanfang, to obtain literature about stigma and discrimination measurement tools that have been developed and applied in the field of HIV. The search period was from 1st January, 1996 to 22nd November 2021. The COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) guideline (2018 version) was applied to assess the risk of bias for each involved study and summarize the psychometric properties of each tool. The modified version of the Grading of Recommendations Assessment, Development, and, Evaluation (GRADE) method was used to grade the evidence and develop recommendations. RESULTS: We included 45 studies and 19 PROMs for HIV/AIDS-related stigma and discrimination among PLHIV. All studies had sufficient methodological quality in content validity, structural validity, internal consistency, and the hypothesis testing of structural validity. Limited evidence was found for cross-cultural validity, stability, and criterion validity. No relevant evidence was found concerning measurement error and responsiveness. The Internalized AIDS-related Stigma Scale (IARSS), Internalized HIV Stigma Scale (IHSS), and Wright's HIV stigma scale (WHSS) are recommended for use. CONCLUSIONS: This study recommends three PROMs for different stigma and discrimination scenarios, including IARSS for its good quality and convenience, IHSS for its broader range of items, higher sensitivity, and greater precision, and WHSS for its comprehensive and quick screening. Researchers should also consider the relevance and feasibility of the measurements before putting them into practice. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42022308579.

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20.

Objective: The article aims to provide genetic counseling to a family with two children who were experiencing growth and developmental delays. Methods: Clinical information of the proband was collected. Peripheral blood was collected from core family members to identify the initial reason for growth and developmental delays by whole exome sequencing (WES) and Sanger sequencing. To ascertain the consequences of the newly discovered variants, details of the variants detected were analyzed by bioinformatic tools. Furthermore, we performed in vitro experimentation targeting SNX14 gene expression to confirm whether the variants could alter the expression of SNX14. Results: The proband had prenatal ultrasound findings that included flattened frontal bones, increased interocular distance, widened bilateral cerebral sulci, and shortened long bones, which resulted in subsequent postnatal developmental delays. The older sister also displayed growth developmental delays and poor muscle tone. WES identified compound heterozygous variants of c.712A>T (p.Arg238Ter) and .2744A>T (p.Gln915Leu) in the SNX14 gene in these two children. Both are novel missense variant that originates from the father and mother, respectively. Sanger sequencing confirmed this result. Following the guideline of the American College of Medical Genetics and Genomics (ACMG), the SNX14 c.712A>T (p.Arg238Ter) variant was predicted to be pathogenic (P), while the SNX14 c.2744A>T (p.Gln915Leu) variant was predicted to be a variant of uncertain significance (VUS). The structural analysis revealed that the c.2744A>T (p.Gln915Leu) variant may impact the stability of the SNX14 protein. In vitro experiments demonstrated that both variants reduced SNX14 expression. Conclusion: The SNX14 gene c.712A>T (p.Arg238Ter) and c.2744A>T (p.Gln915Leu) were identified as the genetic causes of growth and developmental delay in two affected children. This conclusion was based on the clinical presentations of the children, structural analysis of the mutant protein, and in vitro experimental validation. This discovery expands the range of SNX14 gene variants and provides a foundation for genetic counseling and guidance for future pregnancies in the affected children's families.

Identification of chromosomal abnormalities in miscarriages by CNV-Seq.

OBJECTIVE: The primary object of this study is to analyze chromosomal abnormalities in miscarriages detected by copy number variants sequencing (CNV-Seq), establish potential pathways or genes related to miscarriages, and provide guidance for birth health in the following pregnancies. METHODS: This study enrolled 580 miscarriage cases with paired clinical information and chromosomal detection results analyzed by CNV-Seq. Further bioinformatic analyses were performed on validated pathogenic CNVs (pCNVs). RESULTS: Of 580 miscarriage cases, three were excluded as maternal cell contamination, 357 cases showed abnormal chromosomal results, and the remaining 220 were normal, with a positive detection rate of 61.87% (357/577). In the 357 miscarriage cases, 470 variants were discovered, of which 65.32% (307/470) were pathogenic. Among all variants detected, 251 were numerical chromosomal abnormalities, and 219 were structural abnormalities. With advanced maternal age, the proportion of numerical abnormalities increased, but the proportion of structural abnormalities decreased. Kyoto Encyclopedia of Genes and Genomes pathway and gene ontology analysis revealed that eleven pathways and 636 biological processes were enriched in pCNVs region genes. Protein-protein interaction analysis of 226 dosage-sensitive genes showed that TP53, CTNNB1, UBE3A, EP300, SOX2, ATM, and MECP2 might be significant in the development of miscarriages. CONCLUSION: Our study provides evidence that chromosomal abnormalities contribute to miscarriages, and emphasizes the significance of microdeletions or duplications in causing miscarriages apart from numerical abnormalities. Essential genes found in pCNVs regions may account for miscarriages which need further validation.

A Study on AIDS Self-Management Status and Its Influencing Factors.

Purpose: To investigate and analyse the status quo of the self-management of patients living with HIV/AIDS (PLWHA) and its influencing factors and to provide the basis for formulating intervention strategies. Methods: In this cross-sectional study, 300 PLWHA who visited the Infection Center of Beijing Youan Hospital, Capital Medical University between September 2021 and December 2021 were enrolled using the convenience sampling method. Demographic characteristics and disease-related data were collected for each participant. The HIV/AIDS Self-Management Scale was used to evaluate the self-management ability of PLWHA. Results: A total of 251 male and 49 female PLWHA were included in this study, with an average age of 39.08 ± 12.09 years and an average disease duration of 9.61 ± 37.04 months. Univariate analysis showed that the PLWHA's place of residence, educational level, physical condition, family relations, duration of HIV disease, receipt or not of antiviral therapy and knowledge of disease had an influence on the scores of the HIV Self-Management Scale (all p < 0.05). The results of the self-management scores indicated that the total score for self-management was 41.5 ± 6.4 points, with a scoring rate of 69.6%, which was at a medium level. Long-term self-management had the highest scoring rate (12.2 ± 2.5 points), followed by daily health management (22.3 ± 4.3 points), and social support for self-management had the lowest scoring (5.1 ± 0.9 points). Multivariable analysis showed that the self-management ability of PLWHA was related to educational level, duration of disease and family relations (R2 = 0.67, F = 121.7, p < 0.05). Conclusion: The self-management level of patients with AIDS, especially the social support of daily health management and self-management, needs to be further improved. Educational level, duration of disease and family relations are important factors influencing the self-management of PLWHA.

Visualization and Analysis of Infectious Disease Research on Nursing Care Based on CiteSpace in China.

Objective: To analyze the relevant research publications on infectious disease nursing in China to understand the current research status of infectious disease in nursing. Methods: Retrieve relevant literature on infectious disease in nursing from the establishment of the Chinese Biomedical Literature Database, China National Knowledge Infrastructure (CNKI), VIP Database, and Wanfang Database until May 10, 2021. Conduct bibliometric analysis using CiteSpace software. Key words were analyzed using cluster analysis. Results: A total of 4693 relevant literature on infectious disease research in nursing care were included in this study. The overall number of publications on infectious disease research in nursing showed an increasing trend, with a peak in 2010. There were 324 papers funded by scientific research funds, mainly from provincial-level fund projects. The core journal with the most published articles was Nursing Research. The research on infectious disease in nursing mainly focused on various aspects of infectious disease in nursing and infection control. CiteSpace cluster analysis of keywords showed that a total of six clusters were formed: infectious diseases, infectious disease care, health education, mental health, infectious disease nurses, and etiology. After 2015, high-mutation keywords included "quality nursing" and "infection control". Conclusion: Chinese research on infectious disease research in nursing closely follows clinical reality and has developed rapidly. Currently, research focuses on infectious disease research in nursing and infection control. Future research trends will further broaden the depth and breadth of the research, enhance research on infection control and quality nursing, and improve the breadth and depth of the research.

Preparation of core-shell composite materials capable of slowly releasing phosphate and their remediation performance of uranium-contaminated groundwater.

Acid in-situ leach uranium mining significantly alters the geochemistry of the ore zone, and leaves uranium, residual acid, as well as other potential contaminants in groundwater, which bring harm to human health and ecological environment. Many investigators have been trying to propose remediation strategies for the uranium-contaminated groundwater. Phosphate is an effective immobilization reagent of uranium in the groundwater. However, direct injection of phosphate tends to quickly form precipitates, resulting in fast blockage of the seepage passages in the ore zone around the injection holes and hindering its diffusion. In this paper, HAP@SiO2-600, HAP@SiO2-600@25SA, and HAP@SiO2-600@75SA with core-shell structures were prepared. Their slow-release of phosphate, the effects of pH, contact time, initial uranium concentration, and coexisting ions on their removal rate and efficiency of uranium, and their function of remediating uranium-contaminated groundwater were investigated. It was found that the increase of SA content in the outer layer of HAP@SiO2-600@25SA and HAP@SiO2-600@75SA resulted in the slow release rate of phosphate, decreasing the removal rate of uranium. The adsorption capacities of HAP@SiO2-600, HAP@SiO2-600@25SA, and HAP@SiO2-600@75SA from the aqueous solution at pH = 3.0 and 303 K were up to 582.6, 558.5, and 507.3 mg g-1, respectively. In addition, the materials showed excellent uranium removal performance in experiments where multiple ions coexisted. For actual acidic uranium-contaminated groundwater, HAP@SiO2-600, HAP@SiO2-600@25SA, and HAP@SiO2-600@75SA effectively increased the pH from 2.75 to 4.40, 3.87, and 3.72, respectively, and decreased the uranium concentration from 5.12 to 0.0062, 0.0065, and 0.0058 mg L-1, respectively. The FT-IR, XRD, TEM and XPS characterizations were performed to further clarify the uranium removal mechanism, and it was found that the elimination of U(VI) was ascribed to dissolution-precipitation, adsorption and ion exchange. The results show that the core-shell composite material capable of slowly releasing phosphate is effective in remediating uranium-contaminated groundwater.