OBJECTIVE: To explore the genetic etiology for a pregnant woman with a history of multiple adverse pregnancies and assess the phenotype-genotype correlation of 22q11.2 microduplication syndrome in her family. METHODS: Amniotic fluid sample was taken from a pregnant woman for whom non-invasive prenatal screening indicated chromosome 22 abnormalities in the fetus. Peripheral blood samples from the woman, her brother and parents were collected for high-throughput low-depth whole genome sequencing (CNV-seq). A pedigree traceability analysis of the results was conducted in conjunction with analysis of clinical manifestation. Relevant literature (from establishment to March 2025) was systematically searched. This study was approved by the Medical Ethics Committee of Mianyang Maternal and Child Health Care Hospital (Ethics No.: Lun Shen [2024]009). RESULTS: CNV-seq revealed that the fetus had harbored a 6.02 Mb duplication at 22q11.21q11.23. Karyotyping confirmed it as 46,X?dup(22)(q11.2). Pedigree verification demonstrated that the pregnant woman, her brother and mother had all carried the same duplication. Phenotypic analysis of the affected family members showed classic features of 22q11.2 microduplication syndrome, including hypernasal speech, low nasal bridge, congenital heart disease, and cognitive impairment. A total of 44 cases with full information (including three patients from this pedigree) were included in the analysis. The penetrance of 22q11.2 duplication was approximately 29.5% (13/44), and 52.3% (23/44) of the cases had inherited the variant from a phenotypically normal parent. CONCLUSION This study has identified the genetic basis for the woman's recurrent adverse pregnancies and phenotypic abnormalities in her family members. The scoliosis identified in her younger brother has not been previously reported, thereby may enrich the clinical phenotype of this syndrome. For fetuses identified with a 22q11.2 microduplication, detailed fetal imaging is recommended, and genetic counseling should be provided to the couples.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; Chromosome Duplication/genetics* ; Male ; Pedigree ; DiGeorge Syndrome/diagnosis* ; Adult ; Chromosomes, Human, Pair 22/genetics* ; Abnormalities, Multiple

OBJECTIVE To investigate the mechanism by which Shenfukang capsule （SFK） ameliorates renal interstitial fibrosis （RIF） by regulating macrophage-fibroblast crosstalk via the signal transducer and activator of transcription 3 （STAT3）/Yes-associated protein （YAP） pathway. METHODS RAW264.7 macrophages were induced to polarize with transforming growth factor-β 1 （TGF-β 1 ）. Subsequently， a non-contact co-culture system of macrophages with renal fibroblasts NRK-49F， as well as a non-contact co-culture system of macrophages with YAP-knockdown renal fibroblasts， were established. Cells were treated with low， medium， and high concentrations （4， 8， 16 μg/mL） of SFK， as well as a STAT3 inhibitor （STAT3-I，1.64 μg/mL） and losartan potassium tablets （positive control， 0.28 μg/mL）， for 48 h. After intervention， the protein and mRNA expression levels of CD86， CD163， and STAT3 in macrophages， as well as CD86， F4/80， and STAT3 mRNA， were detected. In co-cultured renal fibroblasts， the protein and mRNA expression levels of α -smooth muscle actin （ α -SMA）， Vimentin， collagen type Ⅰ （Col-Ⅰ）， matrix metalloproteinase-1 （MMP-1）， and YAP were detected. In co-cultured YAP-knockdown renal fibroblasts， the protein and mRNA expression levels of α -SMA， Vimentin， and MMP-1 were also detected. RESULTS Following TGF-β 1 induction， the protein expression levels of CD86， CD163， and STAT3， as well as the mRNA expression levels of CD86， F4/80， and STAT3 in macrophages were significantly increased （ P ＜0.05）. The conditioned medium from polarized macrophages activated renal fibroblasts， as evidenced by significantly increased protein and mRNA expression levels of α -SMA， Vimentin， Col-Ⅰ， and YAP， and significantly decreased protein and mRNA expression levels of MMP-1 in renal fibroblasts （ P ＜0.05）. Treatment with SFK and STAT3-I reversed the changes in the above indicators， with the medium concentration SFK group showing stronge r effects on some indicators than the low and high concentration groups. In the non-contact co-culture experiment of macrophages and YAP-knockdown renal fibroblasts， there were no statistically significant differences in the protein and mRNA expression of α-SMA， Vimentin， and MMP-1 among the groups. CONCLUSIONS SFK can inhibit macrophage-renal fibroblast crosstalk by blocking the STAT3/YAP pathway， thereby delaying the progression of RIF.

OBJECTIVE To explore the influencing factors of Shenfukang capsule in the treatment of chronic kidney disease （CKD） and construct a nomogram prediction model for evaluating its therapeutic efficacy. METHODS CKD patients who were hospitalized from July 2019 to August 2022 in the First Affiliated Hospital of Guangxi Medical University and treated with Shenfukang capsule were selected as study subjects. Clinical data of the patients were collected from the hospital’s electronic medical record system， and they were divided into an effective group and an ineffective group based on treatment outcomes. Lasso-Logistic multivariate regression analysis was used to screen the influencing factors of the efficacy of Shenfukang capsule. Using the effectiveness of Shenfukang capsule treatment as the prediction outcome and the screened influencing factors as predictor variables， a nomogram prediction model was constructed using R software. All patients were randomly divided into a training cohort and a validation cohort. The discriminative ability， calibration， and clinical net benefit of the model were evaluated using the receiver operating characteristic （ROC） curve， calibration curve， and decision curve analysis， respectively. RESULTS Lasso-Logistic regression analysis revealed that concurrent diabetes mellitus， decreased levels of blood urea nitrogen， triglycerides， and serum phosphorus， as well as prolonged prothrombin time and elevated apolipoprotein AⅠ levels， were influencing factors for reduced efficacy of Shenfukang capsule in CKD treatment. The evaluation results of the nomogram prediction model showed that the area under curve values were 0.745 and 0.797 in the training and validation cohorts， respectively， which were close and both exceeded 0.70， indicating stable predictive performance. The calibration curves demonstrated good agreement in both datasets， suggesting satisfactory calibration performance. The clinical decision curves were positioned above the two extreme reference lines， indicating high clinical benefit of the model. CONCLUSIONS Diabetes mellitus， blood urea nitrogen， triglycerides， apolipoprotein AⅠ， serum phosphorus， and prothrombin time were factors associated with the efficacy of Shenfukang capsule in CKD patients. The nomogram prediction model established in this study may provide a basis for rational clinical application of Shenfukang capsule and for improving its therapeutic efficacy in CKD.

Obesity has become one of the important factors affecting the entire management process of liver transplantation. Its impact is not only reflected in the increased risk of liver steatosis and ischemia-reperfusion injury in the donor, but also involves the increased technical difficulty during the perioperative period for the recipient, the increase in postoperative metabolic complications and poorer long-term prognosis. This article, based on recent relevant studies, reviews aspects such as the utilization of obese donors, the characteristics of adult and pediatric recipients, pre-transplant risk assessment and weight loss intervention, and post-transplant weight and metabolic management. Current evidence suggests that simply judging transplantation risks based on body mass index has limitations. Analysis of body composition, assessment of cardiovascular function and identification of sarcopenic obesity are more clinically valuable. For obese liver transplant recipients, in a multidisciplinary collaboration framework, emphasis should be placed on individualized screening, perioperative optimization and long-term follow-up management to improve the outcomes of the graft and the recipient.

OBJECTIVE To explore the influencing factors of Shenfukang capsule in the treatment of chronic kidney disease （CKD） and construct a nomogram prediction model for evaluating its therapeutic efficacy. METHODS CKD patients who were hospitalized from July 2019 to August 2022 in the First Affiliated Hospital of Guangxi Medical University and treated with Shenfukang capsule were selected as study subjects. Clinical data of the patients were collected from the hospital’s electronic medical record system， and they were divided into an effective group and an ineffective group based on treatment outcomes. Lasso-Logistic multivariate regression analysis was used to screen the influencing factors of the efficacy of Shenfukang capsule. Using the effectiveness of Shenfukang capsule treatment as the prediction outcome and the screened influencing factors as predictor variables， a nomogram prediction model was constructed using R software. All patients were randomly divided into a training cohort and a validation cohort. The discriminative ability， calibration， and clinical net benefit of the model were evaluated using the receiver operating characteristic （ROC） curve， calibration curve， and decision curve analysis， respectively. RESULTS Lasso-Logistic regression analysis revealed that concurrent diabetes mellitus， decreased levels of blood urea nitrogen， triglycerides， and serum phosphorus， as well as prolonged prothrombin time and elevated apolipoprotein AⅠ levels， were influencing factors for reduced efficacy of Shenfukang capsule in CKD treatment. The evaluation results of the nomogram prediction model showed that the area under curve values were 0.745 and 0.797 in the training and validation cohorts， respectively， which were close and both exceeded 0.70， indicating stable predictive performance. The calibration curves demonstrated good agreement in both datasets， suggesting satisfactory calibration performance. The clinical decision curves were positioned above the two extreme reference lines， indicating high clinical benefit of the model. CONCLUSIONS Diabetes mellitus， blood urea nitrogen， triglycerides， apolipoprotein AⅠ， serum phosphorus， and prothrombin time were factors associated with the efficacy of Shenfukang capsule in CKD patients. The nomogram prediction model established in this study may provide a basis for rational clinical application of Shenfukang capsule and for improving its therapeutic efficacy in CKD.

Abstract To clarify the service targets, service contents, and safeguard mechanisms of the basic public service program for student vision health management, the study grounded in the current status of child and adolescent myopia prevention and control in China and integrated with the practical experience and innovative practices of Wuhan National Demonstration Area for Student Vision Health Management, takes education as the main thread and schools as the base, consolidating resources from multiple stakeholders including education administrative departments, schools, families, and professional technical service institutions. Centering on four core components—vision health education, monitoring and record keeping, risk prevention and control, and dynamic management, the study constructs a multi tiered basic public service system for vision health management of primary and secondary school students. It further proposes the use of an intelligent management platform and a "three tier color coded early warning" mechanism (red, yellow, blue) to prevent and control student myopia at the source, providing schools with replicable and operable implementation pathways to enhance the level of student vision health management.

Objective:To establish a preliminary performance validation protocol for the bioinformatics procedure of metagenomic next-generation sequencing (mNGS) in clinical laboratories.Methods:Three types of simulated datasets were designed and the CatⅠ dataset mainly consisted of pathogen reference genomes and human sequences. CatⅠA was a dataset composed of common pathogens mixed with human sequences and was used to evaluate the inclusiveness, accuracy, recall rates, precision, F1-Score, and other indicators of the mNGS bioinformatics procedure. CatⅠB was a dataset composed of closely related species of common pathogens mixed with human sequences, which was used to evaluate the discriminating ability of closely related species of bioinformatics procedure by calculating the detection rates and the relative abundance ratio of closely related species. The real data of 200 clinical samples was selected to construct CatⅡ and the simulated dataset consisted of colonized bacteria, experimental environment bacteria, reagent engineering bacteria, pathogen reference genomes, and human sequences, which was used to evaluate the sensitivity, specificity, and accuracy of bioinformatics pipeline for pathogens detection. The CatⅢ dataset was obtained from the negative bronchoalveolar lavage fluid BALF sequencing data mixed with 20 rare pathogens sequences in order to evaluate the positive detection rates and recall rates of rare pathogens in the bioinformatics analysis.Results:The analysis of the CatⅠA dataset showed that the positive consistency rate, inclusiveness, precision and accuracy of the bioinformatics peocedure under three sequence gradients were all greater than 99%, with a recall rate of 72.31% (95% CI 69.61%-75.01%) and a F1 Score of 82.00% (95% CI 79.77%-84.22%). In the CatⅠB dataset, the closely related species could be effectively detected at all sequence and proportion gradients, and the relative abundance ratio of closely related species was within 2 times of the design ratio except for the coronavirus, haemophilus, primate bocaparvovirus, human respiratory syncytial virus, and eimeria, indicating good ability to identify the closely related species. All the 24 species of pathogens included in CatⅡ dataset were effectively detected, with the sensitivity, specificity, and accuracy all greater than 90%. All rare pathogens were detected in the CatⅢ dataset, with a detection rate of 100%. Conclusions:With the simulated datasets, the performance validation scheme for the mNGS bioinformatics analysis was preliminary established and could evaluate the accuracy of sequence classification, the ability to identify the closely related species, and detection ability of common and rare pathogens, which may provide some references for the construction of mNGS process.

OBJECTIVES: This study aims to explore the current status and risk factors of oral health-related quality of life OHRQoL in patients with mental disorders and provide evidence for effective intervention measures. METHODS: A total of 397 patients diagnosed with mental illness were selected by convenience sampling, and investigation was carried out using general data questionnaire, health literacy in dentistry-14 (HeLD-14), oral health impact profile-14 (OHIP-14), and oral health status checklist. RESULTS: The total score of OHIP-14 in patients with mental disorders was 8(2, 14). The score of HeLD-14 was negatively correlated with the score of OHIP-14 (r=-0.142, P<0.01). The results of multiple linear regression showed that six variables including annual family income, schizophrenia, sweets, frequency of visits to the dentist, dental caries, and missing teeth affected OHRQoL of patients with mental disorders (P<0.05). CONCLUSIONS The poor OHRQoL of psychiatric patients is associated with many factors. Medical personnel should pay attention to their oral health problems and develop targeted oral care programs throughout the course of disease to improve oral health and related quality of life of patients.
Humans ; Quality of Life ; Oral Health ; Mental Disorders ; Risk Factors ; Surveys and Questionnaires ; Male ; Female ; Dental Caries ; Adult ; Middle Aged ; Schizophrenia

Purpose To develop and validate a radiomics-clinical model that could accurately predict the recurrence of hepatocellular carcinoma(HCC)after undergoing tumor resection.Materials and Methods A total of 311 HCC patients underwent tumor resection in the Affiliated Hospital of North Sichuan Medical College from January 2015 to June 2022 were retrospectively collected,and they were randomly divided into a training cohort(n=217)and a validation cohort(n=94)in the ratio of 7∶3.Tumor and peritumoral 5 mm regions of interest were outlined on arterial and portal venous phase images and radiomics features were extracted to establish an arterio-portal radiomics model.Independent clinical risk factors associated with postoperative recurrence were explored by univariate and multivariate Cox analysis,then clinical model was established.A combined radiomics-clinical model was established by combining clinical independent risk factors and radiomics features.The area under the curve,specificity,sensitivity,net reclassification improvement and integrated discrimination improvement were used to assess the discrimination of all models.The calibration curve assessed the calibration of the model and decision curve analysis assessed the clinical utility of the model.Validation was performed by validation cohort data.Results The Rad-A5V5-clinical model had the best predictive performance for postoperative recurrence of HCC,the area under the curve,specificity and sensitivity of the validation cohort were 0.743(95%CI 0.640-0.846),0.647 and 0.717,respectively.The results of net reclassification improvement and integrated discrimination improvement showed that compared with clinical model and radiomics model,the prediction ability of Rad-A5V5-clinical model was improved the best one.The calibration curves showed that the predicted values of the Rad-A5V5-clinical model conformed the most favorably to the true values.The results of the decision curve analysis curve analyses showed that,among all models,the Rad-A5V5-clinical model would obtain the largest net benefit within a certain threshold range.Conclusion The predictive efficacy for post-tumor resection recurrence in HCC is significantly improved by incorporating tumor-peritumor radiomics features along with clinically independent risk factors.This finding offers a crucial reference point for identifying at-risk patients and tailoring individualized treatment plans.

This paper summarizes the perioperative nursing experience of a premature infant with congenital gastroschisis accompanied by malaria and heart disease during a medical aid mission in Africa.Nursing key points include:preoperative observation and protection of the protruding intestines to prevent intestinal injury and infection,timely identification and management of arrhythmias and acute hypoxic episodes;intraoperative close monitoring of vital signs and assisting the surgeon in creating an"artificial abdominal cavity";postoperative intensification of condition monitoring and intra-abdominal pressure surveillance,standardized medication administration and rational blood transfusion to prevent complications related to gastroschisis repair,and to control malaria-related symptoms,while providing nutritional support and reinforcing health education.Through collaborative diagnosis and treatment by a multidisciplinary team along with meticulous nursing care,the infant showed improvement and was discharged after 2 weeks.A follow-up visit 2 months postoperatively revealed normal feeding,good surgical wound healing,no recurrence of acute hypoxic episodes,and a persistent systolic murmur auscultated over the precordium.