ObjectiveThis paper aims to investigate and evaluate the staged efficacy and safety of the representative empirical prescription of the “Zhu Ke Jiao” theory， Qijia Rougan prescription， combined with entecavir in the treatment of hepatic fibrosis in chronic hepatitis B. MethodsA multicenter randomized controlled clinical study was conducted， and 101 patients diagnosed with chronic hepatitis B-related hepatic fibrosis （CHB-HF） who met the diagnosis and inclusion criteria were randomly assigned to an observation group （Qijia Rougan prescription + entecavir） and a control group （entecavir）. The treatment duration was 24 weeks. Liver stiffness measurement （LSM）， fibrosis-4 index （FIB-4）， portal vein diameter， hepatitis B serology， biochemical indicators， hepatic fibrosis markers in serum ［hyaluronic acid （HA）， laminin （LN）， procollagen Ⅲ peptide （PⅢP）， and type Ⅳ collagen （Ⅳ-C）］， and traditional Chinese medicine syndrome scores were used as efficacy evaluation indicators. Efficacy assessments and explorations of different staged subgroups of Qijia Rougan prescription were conducted according to LSM values based on the Metavir pathological staging standard. ResultsA total of 98 cases were included for statistical analysis， with 49 cases in the observation group and 49 in the control group. The general data of the patients in both groups were comparable. Compared with the same group before treatment， the observation group showed a significant reduction in LSM and FIB-4 （P<0.01）， as well as notable improvements in LN， Ⅳ-C， and various TCM syndrome scores （P<0.05， P<0.01）. When compared to the control group after treatment， the observation group demonstrated significant improvements in LSM， FIB-4， and various TCM syndrome score indicators （P<0.05， P<0.01）， indicating that the observation group performed better than the control group. Subgroup analysis of the regression of hepatic fibrosis stages showed that compared to the same group before treatment， the observation group had better improvement in regression of stages F2 and F3 （P<0.05）. When compared to the control group after treatment， the observation group exhibited superior improvement in regression of stage F3 （P<0.05）. No adverse events occurred in either group during the treatment period. ConclusionCompared with entecavir alone， the combination of Qijia Rougan prescription and entecavir significantly improves the degree of hepatic fibrosis and clinical TCM symptoms in patients. The optimal intervention period is primarily during stage F3， which is a potential “interception” point of the “Zhu Ke Jiao” theory.

Objective:This study employs a combination of single-cell sequencing and Mendelian randomization to explore the genetic associations and molecular mechanisms of Eomes in RCC.Methods:In this study,single-cell transcriptomic data from RCC tissues and adjacent normal tissues were extracted from the GEO database.The data were analyzed using R language and various packages such as Seurat,limma,and CellChat for cell cluster annotation,intercellular communication analysis,and differential expression analysis.Additionally,eQTL data related to differentially expressed genes were retrieved from the GWAS database as exposure variables,with RCC used as the outcome variable in Mendelian randomization analysis to identify the role of Eomes in RCC.Finally,GO functional enrichment and KEGG pathway analyses were conducted to explore the potential molecular mechanisms of Eomes.Results:Single-cell RNA sequencing revealed that B cells play a significant role in the heterogeneity of RCC.Mendelian randomization analysis indicated that Eomes is an important risk factor for RCC(P＜0.05).Furthermore,seven highly correlated specific SNPs were identified,including rs 17021298,rs2247056,rs2617170,rs3806624,rs55908509,rs6590334,and rs9420589.GO and KEGG enrichment analyses suggest that Eomes may be involved in early cell fate determination in renal cell carcinoma and participate in the regulation of Th1 and Th2 cell differentiation,HPV infection,and the Notch signaling pathway.Conclusions:This study is the first to combine single-cell sequencing and Mendelian randomization analysis in RCC,confirming a strong positive causal relationship between Eomes and RCC(OR＞1).Our findings offer new insights into the pathogenesis of RCC,suggesting that Eomes could serve as a novel target for early diagnosis and personalized treatment of RCC.

OBJECTIVE: To analyze the clinical characteristics of a patient with Short rib-polydactyly syndrome type 6 (SRTD6) with long-term misdiagnosis, and improve its clinical recognition by reviewing the relevant literature. METHODS: A patient presented at the Children's Hospital Affiliated to Zhejiang University School of Medicine on August 19, 2024 for the discovery of liver dysfunction for 13 years and vision loss for 9 years was selected as the study subject. Her medical history, clinical data, laboratory findings and results of imaging examination were collected. High-throughput sequencing was carried out, and candidate variants were verified by Sanger sequencing. This study was approved by the Ethics Committee of the Hospital (Ethics No.: 2021-IRB-292). RESULTS: The patient had long-term unexplained liver dysfunction, vision loss, and growth delay. Blood acylcarnitine and urinary organic acid analysis have failed to found any abnormality. Previous genetic testing revealed a homozygous c.203A>C (p.Glu68Ala) missense variant in the ETFDH gene, leading to a misdiagnosis of various acyl-CoA dehydrogenase deficiencies. However, treatment with high-dose vitamin B₂ showed a poor effect. Physical examination revealed small hands, short and stubby fingers, and a narrow chest. Medical imaging showed shortened bilateral ribs, a narrowed chest, and short, thick metacarpals. High-throughput sequencing has detected a pathogenic homozygous c.1957C>T (p.R653*) nonsense variant in the NEK1 gene, confirming the diagnosis of SRTD6. CONCLUSION SRTD6 is characterized by rib and sternum dysplasia as the primary skeletal deformities, which is often accompanied by multi-organ impairment. Genetic testing can facilitate the precise diagnosis.
Humans ; Female ; Diagnostic Errors ; Short Rib-Polydactyly Syndrome/diagnosis* ; High-Throughput Nucleotide Sequencing

Objective To investigate the current situations of economic toxicity in hematological malignancies patients,and explore it's correlation with quality of life and psychological resilience.Methods A total of 135 hematological malignancies patients admitted in Sun Yat-sen Memorial Hospital,Sun Yat-sen University from December 2022 to October 2023 were selected as subjects.Patients were surveyed by using general information and disease-related information questionnaires,comprehensive scores for financial toxicity,European organization for research and treatment of cancer core questionnaire,connor-davidson resilience scale,social support rating sale.Correlation analysis was performed by using the Pearson method.Multiple linear regression was used to analyze the factors of economic toxicity after controlling for confounding factors.Results Economic toxicity score of 135 hematological malignancies patients was(15.95±0.84)points,of which 82.2％of them had economic toxicity.It was positively correlated with functional quality of life(r-0.464,P=＜0.001)and psychological resilience(r=0.232,P=0.007),and negatively correlated with symptomatic psychological quality(r=-0.440,P＜0.001).Multiple linear regression analysis showed that quality of life,knowledge of the treatment cost,course of treatment,patient personality and have no second caregiver were influencing factors of economic toxicity of hematological malignancies(P＜0.05).Conclusion Hematological malignancies patients have a higher level of economic toxicity,which can affect their quality of life and psychological resilience.

BACKGROUND:The AO12-C type middle-proximal humeral fractures are usually caused by high-energy injuries,accompanied by comminuted fractures and a large number of butterfly-shaped bone fragments.These fractures are difficult to achieve good reduction and effective fixation.With the increasing understanding of the biological characteristics of bone and soft tissue,surgical treatment is gradually shifting towards minimally invasive steel plates and intramedullary nail fixation.However,there has been no consensus on which is the best surgical technique for treating humeral fractures in minimal invasive plate osteosynthesis and intramedullary nail.OBJECTIVE:To compare the clinical effect of minimal invasive plate osteosynthesis and intramedullary nail for treating AO12-C type middle-proximal humeral fractures.METHODS:A retrospective analysis was performed in 36 patients with AO12-C type middle-proximal humeral fracture who met the inclusion criteria admitted to the Guizhou Hospital of Beijing Jishuitan Hospital from January 2020 to December 2022.All patients were assigned to minimal invasive plate osteosynthesis group(18 cases)and intramedullary nail group(18 cases)according to the surgical treatment plan.The minimal invasive plate osteosynthesis group received minimally invasive plate osteosynthesis based on preoperative planning assisted by 3D printing,while the intramedullary nail group received intramedullary nail internal fixation.Operation time,intraoperative blood loss,hospital stay,and fracture healing time were compared between the two groups.Visual analog scale score at 1,3,and 6 months after surgery,shoulder joint function,Constant-Murley score,Quick Disabilities of the Arm,Shoulder and Hand(QuickDASH)score,and complications of the shoulder joint at the last follow-up were compared between the two groups.RESULTS AND CONCLUSION:(1)All patients were followed-up for average(15.56±4.05)months,and no difference was observed in hospital stay and fracture healing time between the two groups(P＞0.05).The minimal invasive plate osteosynthesis group had shorter operation time compared to the intramedullary nail group(P＜0.05).The intramedullary nail group had less intraoperative blood loss between the two groups of patients(P＜0.05).(2)In the intramedullary nail group,at 1 and 3 months after operation,the visual analog scale score was significantly lower than the minimal invasive plate osteosynthesis group(P＜0.05).No difference was observed in the visual analog scale in long-term follow-up,shoulder joint function,Constant-Murley score,Quick Disabilities of the Arm,Shoulder and Hand(QuickDASH)score at the last follow-up between the two groups(P＞0.05).(3)No complications such as nonunion or wound infection occurred in either group.Two cases of radial nerve palsy occurred in minimal invasive plate osteosynthesis group,both of which recovered within 3 months.The intramedullary nail group had 1 case of rotator cuff injury.There was no significant difference in the rate of complications between the two groups(P＞0.05).(4)To conclude,minimal invasive plate osteosynthesis and intramedullary nail can achieve good clinical efficacy in the treatment of AO12-C type middle-proximal humeral fractures,effectively improving shoulder joint function in patients.However,minimal invasive plate osteosynthesis exhibits obvious advantages in shorter surgical time with the assistance of 3D printing,which is a valuable,effective,and safe method for treating AO12-C type middle-proximal humeral fractures.

Objective:This study employs a combination of single-cell sequencing and Mendelian randomization to explore the genetic associations and molecular mechanisms of Eomes in RCC.Methods:In this study,single-cell transcriptomic data from RCC tissues and adjacent normal tissues were extracted from the GEO database.The data were analyzed using R language and various packages such as Seurat,limma,and CellChat for cell cluster annotation,intercellular communication analysis,and differential expression analysis.Additionally,eQTL data related to differentially expressed genes were retrieved from the GWAS database as exposure variables,with RCC used as the outcome variable in Mendelian randomization analysis to identify the role of Eomes in RCC.Finally,GO functional enrichment and KEGG pathway analyses were conducted to explore the potential molecular mechanisms of Eomes.Results:Single-cell RNA sequencing revealed that B cells play a significant role in the heterogeneity of RCC.Mendelian randomization analysis indicated that Eomes is an important risk factor for RCC(P＜0.05).Furthermore,seven highly correlated specific SNPs were identified,including rs 17021298,rs2247056,rs2617170,rs3806624,rs55908509,rs6590334,and rs9420589.GO and KEGG enrichment analyses suggest that Eomes may be involved in early cell fate determination in renal cell carcinoma and participate in the regulation of Th1 and Th2 cell differentiation,HPV infection,and the Notch signaling pathway.Conclusions:This study is the first to combine single-cell sequencing and Mendelian randomization analysis in RCC,confirming a strong positive causal relationship between Eomes and RCC(OR＞1).Our findings offer new insights into the pathogenesis of RCC,suggesting that Eomes could serve as a novel target for early diagnosis and personalized treatment of RCC.

Objective To explore the developmental trajectories of oral hygiene compliance and its influencing factors in children after dental caries surgery.Methods A prospective cohort study design was adopted.A total of 268 children who underwent dental caries surgery were selected as the research subjects.General and clinical data of the children were collected.The oral hygiene compli-ance changes after surgery were evaluated using the Oral Hygiene Compliance Scale.The develop-mental trajectories of oral hygiene compliance after surgery were described using the group-based traj-ectory model.Multivariate Logistic regression analysis was used to explore the influencing factors of the compliance developmental trajectories.Results The oral hygiene compliance of children after dental caries surgery could be divided into three types of developmental trajectories:the high-compliance slow-decline group[49(18.28％)],the medium-compliance slow-decline group[56(20.90％)],and the low-compliance stable-change group[163(60.82％)].Multivariate Logistic regression analysis showed that the child's gender,mother's educational level,fathers smoking history,annual per capi-ta household income,Social Support Scale score,Oral Health Self-Efficacy Scale score,and Expec-ted Social Impact Scale score were all independent influencing factors for the oral hygiene compliance to present different types of developmental trajectories(P＜0.05).Conclusion The oral hygiene compliance of children after dental caries surgery presents different types of developmental trajectories,and there are individual differences in their initial compliance levels and rates of change.Clinically,oral hygiene care intervention measures should be implemented according to the specific conditions of children to maintain their oral health.

Objective::To evaluate the early pregnancy loss (EPL) rates in women with and without low molecular weight heparin (LMWH) treatment during early pregnancy.Methods::A retrospective, non-randomized study was conducted at Guangzhou Women and Children’s Medical Center between June 2019 and March 2022, involving women diagnosed with polycystic ovary syndrome (PCOS). All participants conceived following standard preconception care and voluntarily chose either the control group or the LMWH intervention group during the first month of pregnancy. The intervention was administered throughout the entire first trimester. Early and final pregnancy outcomes were recorded, with a particular focus on EPL rates. In addition, venous blood samples and clinical data were collected to compare hormonal profiles, blood lipid levels, and anthropometric parameters between the two groups. Statistical analyses included the two-tailed unpaired Student’s t-test, Mann–Whitney U test, Chi-square test, and Kaplan–Meier survival analysis. A value of P < 0.050 was considered statistically significant. Results::Thirty-eight women in the LMWH group and 102 women in the control group were included. The EPL rates in the LMWH and control groups were 5.3% (2/38) and 26.5% (27/102), respectively ( χ2 = 7.582, P = 0.006, odds ratio ( OR) = 0.154, 95% confidence interval ( CI): 0.035-0.685). The age ( P = 0.005), PCOS subtype ( P = 0.012), and levels of total cholesterol ( P = 0.003), and high-density lipoprotein ( P = 0.018) were significantly different between these two groups. Continued follow-up was performed to observe the long-time effects of LMWH treatment in early pregnancy. Seventy-three patients were successfully delivered, 23 patients in the LMWH group and 50 patients in the control group. There was no significant difference between the LMWH and control groups in gestation length, bleeding during delivery, birth weight, gender of the newborn, or mode of delivery. In addition, Kaplan-Meier curve analysis revealed that LMWH treatment may decrease the risk of EPL in PCOS patients in the first trimester ( χ2 = 4.144, P = 0.040). Conclusion::LMWH treatment during early pregnancy may reduce the EPL rate in women with PCOS.

Objective::To evaluate the early pregnancy loss (EPL) rates in women with and without low molecular weight heparin (LMWH) treatment during early pregnancy.Methods::A retrospective, non-randomized study was conducted at Guangzhou Women and Children’s Medical Center between June 2019 and March 2022, involving women diagnosed with polycystic ovary syndrome (PCOS). All participants conceived following standard preconception care and voluntarily chose either the control group or the LMWH intervention group during the first month of pregnancy. The intervention was administered throughout the entire first trimester. Early and final pregnancy outcomes were recorded, with a particular focus on EPL rates. In addition, venous blood samples and clinical data were collected to compare hormonal profiles, blood lipid levels, and anthropometric parameters between the two groups. Statistical analyses included the two-tailed unpaired Student’s t-test, Mann–Whitney U test, Chi-square test, and Kaplan–Meier survival analysis. A value of P < 0.050 was considered statistically significant. Results::Thirty-eight women in the LMWH group and 102 women in the control group were included. The EPL rates in the LMWH and control groups were 5.3% (2/38) and 26.5% (27/102), respectively ( χ2 = 7.582, P = 0.006, odds ratio ( OR) = 0.154, 95% confidence interval ( CI): 0.035-0.685). The age ( P = 0.005), PCOS subtype ( P = 0.012), and levels of total cholesterol ( P = 0.003), and high-density lipoprotein ( P = 0.018) were significantly different between these two groups. Continued follow-up was performed to observe the long-time effects of LMWH treatment in early pregnancy. Seventy-three patients were successfully delivered, 23 patients in the LMWH group and 50 patients in the control group. There was no significant difference between the LMWH and control groups in gestation length, bleeding during delivery, birth weight, gender of the newborn, or mode of delivery. In addition, Kaplan-Meier curve analysis revealed that LMWH treatment may decrease the risk of EPL in PCOS patients in the first trimester ( χ2 = 4.144, P = 0.040). Conclusion::LMWH treatment during early pregnancy may reduce the EPL rate in women with PCOS.

Enhanced recovery after surgery (ERAS) is a series of perioperative optimization measures based on evidence-based medicine aimed at achieving rapid recovery. Existing studies have shown that ERAS can effectively reduce surgical stress, decrease the incidence of complications, shorten hospital stays, save medical costs, and improve patient satisfaction. Although lung transplantation techniques have become increasingly mature, lung transplant recipients still have a high incidence of complications during perioperative period. To further improve the perioperative survival rate of lung transplant recipients, introducing ERAS concept into the perioperative management strategy of lung transplantation is of great significance for reducing incidence of perioperative complications, promoting rapid recovery and long-term survival of lung transplant recipients. This article discusses the advances in application of ERAS concept in the perioperative management of lung transplantation, aiming to provide references for optimizing the perioperative management of lung transplant recipients and reducing perioperative complications.