Xiaogan First People's Hospital

ABSTRACTBackgroundSRP72‐associated hereditary bone marrow failure syndrome type 1 (BMFS1) has recently been described and only six families have been reported so far. BMFS1 is an autosomal dominant condition characterized by early‐onset aplastic anemia or pancytopenia in some patients and adult‐onset myelodysplasia in others. This paper presents the clinical and genetic characteristics of a rare case of hereditary bone marrow failure syndrome 1 (BMFS1) and explores its pathogenesis.MethodsBlood samples and clinical data were collected from the proband and his biological parents. Next‐generation sequencing (NGS) was employed to sequence the genes associated with the proband, and the identified variants were subsequently confirmed via Sanger sequencing. Additionally, minigene splicing assays were conducted to assess the functional alterations of SRP72.ResultsA new splicing variant, c.1502+1G>A, was identified in the SRP72 gene through gene sequencing, and this finding was confirmed by Sanger sequencing. Neither parent carried this mutation. Minigene splicing assays revealed an insertion of two bases (AG) at the mRNA level (r.1503‐2_1503‐1insAG), potentially resulting in a premature stop codon (p.Leu502ValfsTer14). According to ACMG guidelines, the variant is classified as “Likely pathogenic”. The c.1502+1G>A mutation in SRP72 is implicated as the potential cause of BMFS1 in this child.ConclusionsOur study identified a novel classical splicing mutation, marking the first report of BMFS1 in China. This case broadens the spectrum of pathogenic variants associated with the SRP72 gene and expands our understanding of its phenotypic manifestations. It also serves as a typical example for early diagnosis and appropriate treatment of BMFS1.

Abstract HOPX acts as a tumor suppressor in certain cancers, but the function of HOPX, as well as its mechanism of action in hepatocellular carcinoma (HCC) has not been fully elucidated. In this study, using in vitroand in vivo animal models, the effect of HOPX on the development of HCC was explored. In our study, the HOPX expression at both protein and mRNA level were found to be downregulated in HCC cells and tumor tissues. Restoration of HOPX expression was found to inhibit HCC cell invasion and migration capabilities, but produced no effect on growth. Moreover, HOPX prevented metastasis in an HCC cell metastatic mouse model. Further investigations showed that HOPX could suppress HCC cell epithelial-to-mesenchymal transition (EMT) by inhibiting SNAIL, an EMT transcription factor that is required for the metastasis-inhibition activity of HOPX to proceed. Our study identified HOPX as a suppressor of the development of HCC, which implies that HOPX suppresses HCC cells invasion and migration by inhibiting SNAIL.

We report the case of a 45-year-old woman with pentalogy of Fallot, a severe and complicated cyanotic congenital heart disease. Congenital anomalies of pentalogy of Fallot include ventricular septal defect, right ventricular hypertrophy, saddle aorta, pulmonary ostium stenosis, atrial septal defect, and patent foramen ovale. Pentalogy of Fallot is less common than triplet and tetralogy of Fallot and can affect children’s physical development. Approximately 95% of patients with pentalogy of Fallot die before the age of 40 years, and early surgical radical surgery is recommended. However, the patient in the current case did not undergo surgery.

Currently, validated biomarkers for assessing hemorrhagic transformation (HT) after intravenous thrombolysis (IVT) are lacking. We aimed to validate a test combining GFAP (glial fibrillary acidic protein) and UCH-L1 (ubiquitin C-terminal hydrolase-L1) to indicate the absence of HT after IVT. We prospectively enrolled consecutive patients with stroke treated with IVT from 16 hospitals. Serum GFAP and UCH-L1 levels were measured 24 hours after IVT. Cases from 1 hospital were randomly assigned to the training (70%) and testing (30%) cohorts for internal validation. The external validation cohort included patients from the other 15 hospitals. Cutoff levels of GFAP and UCH-L1 for assessing the absence of HT were established in the training cohort and subjected to internal and external verification. A total of 1063 patients were included. Both GFAP and UCH-L1 levels were independently associated with HT, infarct volume, and 3-month outcome; levels lower than cutoff (12.6 and 63.1 pg/mL, respectively) excluded patients with HT with a negative predictive value of 98.31% (95% CI, 89.70%-99.91%) and detection sensitivity of 98.08% (95% CI, 88.42%-99.90%) in the training cohort. In the testing and validation cohorts, negative predictive value was 100% (95% CI, 75.93%-100%) and 100% (95% CI, 82.19%-100%), respectively, and the sensitivity was 100% (95% CI, 80.76%-100%) and 100% (95% CI, 77.08%-100%), respectively. Serum GFAP and UCH-L1 levels exhibit high sensitivity and negative predictive value for indicating the absence of HT 24 hours after IVT, which supports their potential role in assessing patients' condition after IVT.

In China, nursing information systems (NIS) implementation can face numerous barriers to acceptance, including the attitudes of potential users. However, few studies have evaluated this acceptance. The aim of this study was to explain the acceptance of NIS utilizing a survey based on unified theory of acceptance and use of technology. A multi-center cross-sectional study utilizing an online survey was conducted. SPSS AMOS was used to conduct a structural equation modelling analysis. This research followed the STROBE Checklist. A total of 3973 Nurses participated in the study between January 2023 and March 2023. The acceptance of NIS among nurses was overall moderate to high. The proposed model has been rigorously tested and validated using empirical data, ensuring its credibility and dependability. Performance expectancy (PE), social influence (SI), and attitude significantly and positively affected intentions to use NIS. Effort expectancy (EE) did not show any significant effects in the sample. Facilitating conditions (FCs) was found to have a negative relationship with the intention to use NIS. There was a statistically significant difference BI between the different age groups, working years, and computer training experience. The model demonstrates a good fit with the observed data. This study identified PE, SI, and attitude as facilitators of nurses' intentions to use NIS. The findings about EE indicates that the ease of using NIS does not seem to be a concern among nurses. Moreover, high FC might be perceived as indicative of a complex system or extensive usage, that can lead to increased workload and reduced behavioural intention (BI). The significant differences in BI among various demographic groups highlight the need for more studies understanding the preferences and barriers faced by different, levels of experience and training backgrounds. No patient or public contribution.

ObjectivesThis study aimed to investigate the association between the neutrophil percentage to albumin ratio (NPAR) on the day of admission and mortality 1 year after surgery in elderly patients with hip fractures.MethodsClinical characteristics and blood markers of inflammation were retrospectively collected from October 2016 to January 2022 in elderly patients with hip fractures at two different regional tertiary medical centers. It is divided into a training set and an external validation set. Multivariate Nomogram models such as NPAR were constructed using the least absolute shrinkage and selection operator (LASSO) regression results and multi-factor logistic regression analysis. In addition, multivariate Cox regression analysis and Kaplan-Meier survival curves were used to explore the relationship between NPAR values and mortality within 1 year in elderly patients with hip fractures. The predictive performance of the Nomogram was evaluated using the concordance index (C Index) and receiver operating characteristic curve (ROC) and validated by Bootstrap, Hosmer-Lemesow goodness of fit test, calibration curve, decision curve, and clinical impact curve analysis.ResultsThe study included data from 1179 (mean age, 80.34 ± 8.06 years; 61.4[52.1%] male) patients from the Guangzhou Red Cross Hospital affiliated with Jinan University and 476 (mean age, 81.18 ± 8.33 years; 233 [48.9%] male) patients from the Xiaogan Central Hospital affiliated with Wuhan University of Science and Technology. The results showed that NPAR has good sensitivity and specificity in assessing patients’ prognosis 1 year after surgery. Multivariate logistic regression models based on influencing factors such as NPAR have good discrimination and calibration ability (AUC=0.942, 95% CI:0.927-0.955; Hosmer-Lemeshow test: P >0.05). Kaplan-Meier survival curves for the training and validation sets showed that patients in the high NPAR group had a higher mortality rate at 1 year compared to the low NPAR group (P< 0.001). Multivariate Cox regression showed that high NPAR values were an independent risk factor for death within 1 year in elderly hip fracture patients (P< 0.001, HR =2.38,95%CI:1.84-3.08).ConclusionOur study showed that NPAR levels were significantly higher in patients who died within 1 year after surgery in both the training and validation sets. NPAR has good clinical value in assessing 1-year postoperative prognosis in elderly patients with hip fractures.

BackgroundIdiopathic pulmonary fibrosis (IPF) is a genetic heterogeneous disease with high mortality and poor prognosis. Hyaluronidase 1 (HYAL1) was found to be upregulated in fibroblasts from IPF patients, and overexpression of HYAL1 could prevent human fetal lung fibroblast proliferation. However, the genetic correlation between the HYAL1 and IPF or connective tissue diseases related interstitial lung disease (CTD‐ILD) has not been determined.MethodsA two‐stage study was conducted in Southern Han Chinese population. We sequenced the coding regions and flanking regulatory regions of HYAL1 in stage one (253 IPF cases and 125 controls). A statistically significant variant was further genotyped in stage two (162 IPF cases, 182 CTD‐ILD cases, and 225 controls).ResultsWe identified a nonsynonymous polymorphism (rs117179004, T392M) significantly associated with increased IPF risk (dominant model: OR = 2.239, 95% CI = 1.212–4.137, p = 0.010 in stage one; OR = 2.383, 95% CI = 1.376–4.128, p = 0.002 in stage two). However, we did not observe this association in CTD‐ILD (OR = 1.401, 95% CI = 0.790–2.485, p = 0.248).ConclusionOur findings suggest that the nonsynonymous polymorphism (rs117179004, T392M) may confer susceptibility to IPF in Southern Han Chinese, but is not associated with susceptibility to CTD‐ILD.

Abstract Background Optimal fluid management in patients with COVID-19 has not been reported. This retrospective, multicenter study investigated the impact of intravenous infusion volume in the early stage of COVID-19 on clinical outcomes. Methods 127 patients from two tertiary hospitals were separated into the “conservative” and “liberal” groups based on average daily intravenous infusion volume within the first seven days after admission. Basic information, demographic and epidemiological characteristics, laboratory findings, treatments, and outcome measures were retrieved from medical records. The disease progression and prognosis were analyzed and compared. Results The average daily intravenous infusion volume within 7 days was 500 (150–700) ml/day in the conservative-strategy group (n = 87), and 1100 (1000–1288) ml/day in the liberal-strategy group (n = 40) (p &lt; 0.001). There were no statistical differences in median age, male-to-female ratio, epidemiology, laboratory findings on admission, comorbidities, and average daily urine output within the seven days (p &gt; 0.05). The final K+ in the liberal group was slightly higher than that at admission, and the final hematocrit level in the conservative group had a significant difference than that at admission (p &lt; 0.05). The mean (± SD) duration of hospitalization was 22.41 ± 11.99 days in the conservative group and 25.28 ± 12.08 days in the liberal group (p = 0.120). However, compared to the liberal group, conservative group had statistically lower rates of disease progression (9.3% vs 37.5%, p &lt; 0.001), mechanical ventilation (2.3% vs 27.5%, p &lt; 0.001) and in-hospital mortality (2.3% vs 15.0%, p = 0.012). Conclusions Although there appeared to be no significant difference in the duration of hospitalization between using conservative and liberal fluid management strategies, the former was associated with lower rates of disease progression, mechanical ventilation and in-hospital mortality without increased nonpulmonary-organ dysfunction. These results support the importance of implementing conservative intravenous fluid infusion in the early stage of COVID-19.