OBJECTIVE: To summarize the clinical and genetic characteristics of children with Silver-Russell syndrome (SRS) and improve the recognition of this disease. METHODS: A retrospective analysis was conducted on the clinical manifestations and genetic testing results of 29 children with SRS diagnosed at the Children's Hospital Affiliated to Zhengzhou University between March 2016 and June 2025. RESULTS: The 29 children had included 18 boys and 11 girls, with the age ranging from 2 months to 16 years. Their primary clinical manifestations included postnatal growth retardation (100%), small for gestational age (SGA) (100%), characteristic facial features (90%), limb asymmetry (83%), feeding difficulties (76%), ulnar deviation of the fifth finger (69%), body mass index (BMI) of < -2 SD (62%), and abnormal bone age (55%), including 15 cases with delayed bone age for an average of 1.5 years and 1 case with advanced bone age for 2.5 years. Additional manifestations included abnormal sexual development in 11 cases (38%), dental malocclusion in 11 cases (38%), allergic diseases in 10 cases (34%), cardiac diseases in 9 cases (31%), skeletal abnormalities in 7 cases (24%), renal hypoplasia in 5 cases (17%), and abnormal cranial MRI findings in 5 cases (17%). Twenty children were treated with recombinant human growth hormone (rhGH) at a dose of 0.1 ~ 0.15 U/(kg.d). Among them, 7 cases achieved annual height increase of ≥ 10 cm, 11 cases achieved annual height increase of ≥ 5 ~ 9 cm, and 2 cases achieved annual height increase < 5 cm. Twenty three children exhibited hypomethylation of imprinted genes in the chromosome region of 11p15, 4 presented maternal uniparental disomy of chromosome 7 [UPD(7)mat], and 2 had harbored nonsense variants of the HMGA2 gene. CONCLUSION SRS patients may present with diverse clinical manifestations including postnatal growth retardation, SGA, characteristic facial features, limb asymmetry, feeding difficulties, and ulnar deviation of the fifth finger. Most patients may exhibit abnormal methylation in the 11p15 region. rhGH therapy can improve the height of these patients.
Humans ; Silver-Russell Syndrome/diagnosis* ; Male ; Female ; Child ; Child, Preschool ; Infant ; Adolescent ; Retrospective Studies

Objective:To explore the prospective association between physical activity level and mor-tality risk in Chinese adults with chronic obstructive pulmonary disease(COPD).Methods:Based on the China Kadoorie Biobank(CKB)who had COPD at the baseline survey,this study employed the Cox proportional hazards regression model to estimate the prospective associations between the overall physical activity,different intensities(low-level,moderate-to-vigorous-level),and types(occupational,non-occupational)of physical activity level and the risks of all-cause and cause-specific mortality,such as vascular diseases,cancer,and respiratory diseases.Based on the quintiles of physical activity level,par-ticipants were divided into five groups(Q1-Q5),with the lowest quintile group(Q1)as the reference group.Hazard ratio(HR)and 95％confidence interval(95％CI)were calculated for the remaining.In our study,we also performed sensitivity and subgroup analyses,including age,gender,self-rated health status,severity of COPD,etc.Results:Among 33 588 COPD patients at the baseline survey,8 314(22.2％)deaths were documented during an average follow-up of(11.1±3.1)years.Negative linear associations between the overall physical activity level and mortality risk from all-cause,vascular,and respiratory diseases were observed(P trend for linear correlation being＜0.001,0.002,＜0.001).Compared with the lowest quintile group of total physical activity(Q1),the hazard ratios(HR)and 95％confidence intervals(CI)for all-cause mortality,vascular disease mortality,and respiratory disease mortality in the highest quintile group(Q5)were 0.77(0.70,0.85),0.77(0.65,0.91),and 0.58(0.48,0.71),respectively.The low-level and moderate-to-vigorous-level physical activity were nega-tively associated with all-cause mortality in the COPD patients(P trend for linear correlation:0.002,＜0.001,respectively).Compared with the lowest quintile group of low-intensity and moderate-to-vigorous intensity physical activity(Q1),the HRs(95％CI)for all-cause mortality in the highest quintile group(Q5)were 0.89(0.82,0.97)and 0.79(0.72,0.87),respectively.The occupational and non-occupational physical activity were also found to have a linear inverse association with all-cause mortality risk among the COPD patients(P trend＜0.001 and 0.015,respectively).Compared with the lowest quintile group of occupational and non-occupational physical activity(Q1),the HR(95％CI)for all-cause mortality in the highest quintile group(Q5)were 0.69(0.61,0.78)and 0.91(0.84,0.98),respectively.The associations between overall physical activity and all-cause mortality risk were stronger for patients aged 60 and above,female,and who reported poor health status(P for interaction:0.028,0.012,0.010).The protective effect of total physical activity was also applicable to the COPD patients of varying severity.Conclusion:Physical activity could reduce the mortality risk in a dose-response relationship among COPD patients,regardless of its intensity and type,especially among indi-viduals aged 60 and above,females,and those with poor self-report health status.

Objective:To explore the spousal correlations of total cholesterol(TC),total triglyceride(TG),low-density lipoprotein cholesterol(LDL-C),and high-density lipoprotein cholesterol(HDL-C),and to investigate the reasons behind these spousal correlations.Methods:Participants and data were from the baseline survey of family-based cohort studies in Fangshan,Beijing and Tulou,Fujian.The ori-gin of spousal correlations were explored from perspectives of convergence,assortative mating,social ho-mogamy.Pearson's correlation and generalized linear models(GLM)were used to estimate the spousal correlation.Convergence was assessed by Pearson's correlation between the phenotypic differences be-tween couples and the duration of marriage,with GLM used for further validation.Pearson's correlation of genetic risk scores(GRS)and couple-specific Mendelian randomization(MR)were calculated to assess the genetic correlation and possible causal relationships between spouses.Two-independent-sample t-tests were used to compare GRS consistency across subgroups divided by education attainment,couple-specific MR and Q statistics used to test assortative mating in subgroups and intergroup differences.Results:In the study,342 couples(287 couples from Fangshan and 55 couples from Fujian)were included,with the average age of(64.91±8.76)years.Spousal correlations of TC,TG,HDL-C,and LDL-C showed statistically significant associations both before and after adjusting for covariates,with effect sizes of 0.229(95％CI:0.125-0.327),0.257(95％CI:0.155-0.354),0.179(95％CI:0.074-0.280),and 0.181(95％CI:0.076-0.282).For convergence,for each additional year of marriage,ΔTC increased by 0.016 mmol/L(95％CI:0.001-0.033 mmol/L),and ΔLDL-C increased by 0.017 mmol/L(95％CI:0.002-0.031 mmol/L).For assortative mating,GRS correlations and results of couple specific MR didn't show any statistical significance.For social homogamy,no differences in GRS or assortative mating were found between subgroups stratified by education attainment.Conclusion:The blood lipid in participants exhibit spousal phenotypic correlations,however,no effects of convergence,assortative mating or social homogamy were observed.More independent studies with larger sample sizes are warranted to further validate these findings in the future.

Objective:To analyze the relationship between blood urea nitrogen (BUN)/albumin (ALB) ratio (B/A) and prognosis of patients undergoing percutaneous coronary intervention (PCI) guided by ultrasound before operation.Methods:A total of 116 patients who underwent PCI under the guidance of intra-coronary ultrasound in Xianyang Central Hospital from February 2020 to December 2022 were retrospectively selected as the observation group, and 120 healthy people in the same period were selected as the control group. All patients were followed up for 1 year after surgery, and 116 patients were divided into poor prognosis group ( n=33) and good prognosis group ( n=83), taking major adverse cardiovascular events (MACE) as the end point during follow-up. The levels of BUN and ALB in peripheral blood of all subjects were detected after admission, and B/A was calculated. The basic data, biochemical indexes and B/A of each group were analyzed and compared. The predictive value of preoperative BUN, ALB and B/A on postoperative MACE in patients with PCI guided by intra-coronary ultrasound was analyzed by receiver operating characteristic (ROC) curve. Multivariate logistic regression analysis was used to evaluate the related influencing factors of postoperative MACE in patients with PCI guided by intra-coronary ultrasound. Results:The left ventricular end-diastolic inner diameter (LVEDD), N-terminal B-type natriuretic peptide (NT-proBNP), creatine kinase isoenzyme (CK-MB), BUN and B/A in the observation group were higher than those in the control group, and left ventricular ejection fraction (LVEF) and ALB were lower than those in the control group (all P<0.05). NT-proBNP, CK-MB, BUN and B/A in the poor prognosis group were higher than those in the good prognosis group, and LVEF and ALB were lower than those in the good prognosis group (all P<0.05). ROC curve results showed that the AUC of peripheral blood BUN, ALB and B/A predicting postoperative MACE in patients with PCI guided by intra-coronary ultrasound were 0.833(95% CI: 0.783-0.883), 0.859(95% CI: 0.809-0.909) and 0.922(95% CI: 0.872-0.972). Multivariate logistic regression analysis showed that LVEF [ OR(95% CI)=1.952(1.317-2.895)], NT-proBNP [ OR(95% CI)=2.625(1.643-4.193)], BUN [ OR(95% CI)=3.353(1.922-5.851)], ALB [ OR(95% CI)=3.792(2.049-7.018)] and B/A [ OR(95% CI)=3.277(2.000-5.370)] were all the influencing factors of postoperative MACE in patients undergoing PCI guided by intra-coronary ultrasound ( P<0.05). Conclusions:The level of B/A in patients with PCI guided by intra-coronary ultrasound increased before surgery, and the high level of B/A is a risk factor for postoperative MACE, which can be used as a biological index to evaluate the postoperative MACE in patients with PCI guided by intra-coronary ultrasound.

Objective:To study the effects of chlorhexidine (CHX) and ethylene diamine tetraacetic acid (EDTA) on adhesive properties of moderate fluorosis dentin.Methods:From August to September 2024, a total of 30 freshly extracted, non-carious and non-defective mandibular molars with moderate dental fluorosis, extracted for impaction or orthodontic reasons, were collected from the patients at the Department of Oral and Maxillofacial Surgery at Guiyang Stomatological Hospital and randomly divided into three groups (Groups A, B, and C, n = 10) using a simple randomization method, and pretreated for 60 s with normal saline (Group A), 17%EDTA gel (Group B), and 2%CHX solution (Group C), respectively. Subsequently, microtensile bonding strength testing and microleakage evaluation were performed. Results:The immediate bonding strengths of Groups A, B, and C were (14.23 ± 4.75), (20.94 ± 7.46), and (28.76 ± 14.61) MPa, respectively, and the bonding strengths after aging were (9.89 ± 3.81), (19.05 ± 7.85), and (22.15 ± 8.67) MPa, respectively. There were statistically significant differences in both immediate and aged bonding strengths among the three groups ( F = 6.08, 8.07, P = 0.010, 0.002). The immediate bonding strength of Group C was significantly higher than that of Group A ( P < 0.05), and the post aging bonding strength of both Group B and Group C was significantly higher than that of Group A ( P < 0.05). The proportion of silver staining area with microleakage in Groups A, B, and C were 21.87% (14.65%, 40.15%), 2.34% (1.87%, 5.29%), and 17.54% (4.59%, 20.47%), respectively, with statistically significant differences among the three groups ( H = 27.36, P = 0.001). The proportion of silver stained area with microleakage in Group B was significantly lower than that in Group A and Group C, and the difference was statistically significant ( P < 0.05). Conclusions:Pretreatment of moderate fluorosis dentin with 2%CHX or 17%EDTA can improve resin bongding performance, with EDTA being superior in reducing microleakage and CHX being better in enhancing adhesion strength.

Objective:To investigate the prognosis of postoperative adjuvant therapy for hepatocellular carcinoma after conversion therapy of combined targeted therapy and immunotherapy followed by sequential hepatectomy.Methods:The retrospective cohort study was conducted. The clinicopathological data of 103 patients with initially unresectable hepatocellular carcinoma (HCC) who were admitted to 11 medical centers in China, including Mengchao Hepatobiliary Hospital of Fujian Medical University et al, from November 2019 to May 2023 were collected. There were 83 males and 20 females, aged (54±12)years. All 103 patients underwent conversion therapy of tyrosine kinase inhibitors (TKIs) and immune checkpoint inhibitors (ICIs) successfully followed by sequential hepatectomy, of which 72 patients undergoing postoperative adjuvant therapy were divided into the adjuvant therapy group, and 31 patients undergoing postoperative follow-up monitoring were divided into the follow-up monitoring group. Observation indicators: (1) follow-up and postoperative condi-tions; (2) analysis of factors influencing recurrence-free survival time of patients; (3) stratified ana-lysis. Comparison of count data between group was conducted using the chi-square test or Fisher exact probability. The R software was used to draw survival curves, and the Log-rank test was used for survival analysis. Univariate and multivariate analyses were conducted using the Cox proportional hazard model. Results:(1) Follow-up and postoperative conditions. All 103 patients were followed up for 21.0(range, 1.9?47.2)months, with the median recurrence-free survival time of 28.7 months and the 1-, 2-, 3-year recurrence-free survival rates of 68.6%, 55.6%, 41.2%. The median overall survival time of 103 patients was unreached, and the 1-, 2-, 3-year overall survival rates were 90.9%, 82.1%, 69.6%, respectively. The median recurrence-free survival time was 33.1 months in patients of the adjuvant therapy group, with the 1-, 2-year recurrence-free survival rates as 77.2%, 61.5%. The median recurrence-free survival time was 11.1 months in patients of the follow-up monitoring group, with the 1-, 2-year recurrence-free survival rates as 46.6%, 40.8%. There was a significant difference in recurrence-free survival between the two groups of patients ( χ2=5.492, P<0.05). (2) Analysis of factors influencing recurrence-free survival time of patients. Results of multivariate analy-sis showed that pathologic complete response and postoperative adjuvant therapy were independent factors influencing recurrence-free survival time of HCC patients undergoing conversion therapy of combined targeted therapy and immunotherapy followed by sequential hepatectomy ( hazard ratio=0.297, 0.492, 95% confidence interval as 0.137?0.647, 0.268?0.903, P<0.05). (3) Stratified analysis. Of the 71 patients with non-pathologic complete response, the median recurrence-free survival time of 48 patients in the adjuvant therapy group was 24.0 months, with the 1-, 2-year recurrence-free survival rates as 67.4%, 48.8%. The median recurrence-free survival time of 23 patients with non-pathological complete response in the follow-up monitoring group was 7.4 months, with the 1-, 2-year recurrence-free survival rates as 35.0%, 26.3%. There was a significant difference in recurrence-free survival between the 48 patients with non-pathologic complete response in the adjuvant therapy group and the 23 patients with non-pathologic complete response in the follow-up monitoring group ( χ2=5.241, P<0.05). Conclusion:For HCC patients with conversion therapy of TKIs and ICIs followed by sequential hepatectomy, postoperative adjuvant therapy, compared to postoperative follow-up monitoring, can prolong the recurrence-free survival time of patients, of whom cases with non-pathologic complete response can benefit from adjuvant therapy.

BACKGROUND:It is urgent to improve the study on the molecular mechanism of Ban's Culuan Zhuyun Decoction improving oocyte quality in polycystic ovary syndrome.OBJECTIVE:To observe the effects of Ban's Culuan Zhuyun Decoction on oocyte quality in a mouse model of polycystic ovary syndrome and to explore the underlying mechanisms of its intervention in polycystic ovary syndrome.METHODS:Subcutaneous injection of dehydroepiandrosterone sulfate was used to establish the polycystic ovary syndrome model in 21-day-old female Kunming mice,and the treatment was conducted for 21 consecutive days.The estrous cycle and pregnancy was recorded.ELISA was used to detect serum sex hormone levels.The rate of apoptosis in oocytes was detected using Annexin V staining.The level of reactive oxygen species in oocytes was detected using dichlorodihydrofluorescein diacetate.The condition of spindle bodies and chromosomes in oocytes were detected using the immunofluorescence method.Network pharmacology and molecular docking were used to verify the binding properties of Ban's Culuan Zhuyun Decoction core active components and oocyte maturation-related factors(growth differentiation factor 9 and bone morphogenetic protein 15).Real-time fluorescence quantitative PCR and western blot were used to detect the mRNA and protein expression levels of growth differentiation factor 9 and bone morphogenetic protein 15 in oocytes,respectively.RESULTS AND CONCLUSION:(1)Ban's Culuan Zhuyun Decoction core active components(quercetin,kaempferol,and β-sitosterol)showed good binding activities with growth differentiation factor 9 and bone morphogenetic protein 15.(2)Ban's Culuan Zhuyun Decoction ameliorated the estrous cycle,regulated serum hormone,increased the pregnancy,decreased the rate of apoptosis,declined the level of reactive oxygen species,diminished the rate of abnormal spindle assembly and chromosome loss(P<0.01,P<0.05);and promoted the mRNA and protein expression of growth differentiation factor 9 and bone morphogenetic protein 15(P<0.05).Therefore,Ban's Culuan Zhuyun Decoction may improve the oocyte quality and increase the fertility of polycystic ovary syndrome mice by regulating the gene expression of growth differentiation factor 9 and bone morphogenetic protein 15.

As the longest and most widely distributed pair of nerves in the brain,the vagus nerve is involved in the regulation of many systems and organs.Recent studies have found that the vagus nerve may be involved in the occurrence of a variety of neuropsychiatric diseases by regulating the release of neurotransmitters(such as norepinephrine,5-hydroxytryptamine,gamma-aminobutyric acid and acetylcholine)and regulating the immune system and gut-brain axis.This article focuses on the regulatory mechanisms of the vagus nerve on neurotransmitters,immune system function,and the gut-brain axis,as well the therapeutic advances in vagus nerve stimulation for neurological and psychi-atric diseases such as epilepsy,depression and anxiety disorders.

Objective:To evaluate the efficacy and safety of therapeutic temperature control in patients with severe traumatic brain injury (sTBI).Methods:The full-text databases of Chinese Medical Journal, China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, VIP Database, China Biomedical Database, PubMed, Embase, and Cochrane Library were searched for randomized controlled trials (RCTs) of hypothermia treatment and conventional treatment in patients with sTBI. The search period was from January 2016 to June 2025. Meta-analysis was performed using RevMan 5.3 software. The evaluation indicators included intracranial pressure before treatment, at 3 and 5 days after treatment, favorable prognosis rate and mortality rate within 6 months after treatment, and incidence of pulmonary infection, intracranial infection, epilepsy, acute gastrointestinal dysfunction, deep vein thrombosis, abnormal coagulation function, and arrhythmia during treatment; publication bias.Results:A total of 33 studies involving 3 322 patients were included, with 1 696 patients in the temperature treatment group and 1 626 in the conventional treatment group. There was no statistically significant difference in intracranial pressure between the two groups before treatment ( SMD=0, 95% CI -0.13, 0.14, P>0.05). However, at 3 and 5 days after treatment, the intracranial pressure was lower in the temperature treatment group than that in the conventional treatment group ( SMD=-2.29, 95% CI -2.76, -1.82, P<0.01; SMD=-2.66, 95% CI -3.43, -1.89, P<0.01). Within 6 months after treatment, the favorable prognosis rate was higher in the temperature treatment group than that in the conventional treatment group ( RR=1.41, 95% CI 1.32, 1.50, P<0.01), and mortality rate was lower than that in the conventional treatment group ( RR=0.64, 95% CI 0.55, 0.75, P<0.01). Compared with the conventional treatment group, the incidences of epilepsy and acute gastrointestinal dysfunction in the temperature treatment group were statistically reduced ( RR=0.33, 95% CI 0.13, 0.83, P<0.05; RR=0.43, 95% CI 0.25, 0.74, P<0.05). There were no statistically significant differences in the incidence of pulmonary infection ( RR=0.96, 95% CI 0.85, 1.08, P>0.05), intracranial infection ( RR=0.56, 95% CI 0.20, 1.56, P>0.05), deep vein thrombosis ( RR=0.93, 95% CI 0.69, 1.25, P>0.05), abnormal coagulation function ( RR=1.19, 95% CI 0.43, 3.31, P>0.05) or arrhythmia ( RR=0.51, 95% CI 0.23, 1.12, P>0.05) between the two groups. Egger′s test indicated the presence of publication bias and the results remained robust after trim and fill analysis. Conclusions:For patients with sTBI, temperature control therapy shows lowered intracranial pressure and mortality rate as well as improved favorable prognosis rate at 6 months posttreatment, and decreased incidence of epilepsy and acute gastrointestinal dysfunction during treatment, while reveals similar incidence of pulmonary infection, intracranial infection, deep vein thrombosis, abnormal coagulation function, and arrhythmia when compared with conventional treatment.

Objective:To analyze the relationship between blood urea nitrogen (BUN)/albumin (ALB) ratio (B/A) and prognosis of patients undergoing percutaneous coronary intervention (PCI) guided by ultrasound before operation.Methods:A total of 116 patients who underwent PCI under the guidance of intra-coronary ultrasound in Xianyang Central Hospital from February 2020 to December 2022 were retrospectively selected as the observation group, and 120 healthy people in the same period were selected as the control group. All patients were followed up for 1 year after surgery, and 116 patients were divided into poor prognosis group ( n=33) and good prognosis group ( n=83), taking major adverse cardiovascular events (MACE) as the end point during follow-up. The levels of BUN and ALB in peripheral blood of all subjects were detected after admission, and B/A was calculated. The basic data, biochemical indexes and B/A of each group were analyzed and compared. The predictive value of preoperative BUN, ALB and B/A on postoperative MACE in patients with PCI guided by intra-coronary ultrasound was analyzed by receiver operating characteristic (ROC) curve. Multivariate logistic regression analysis was used to evaluate the related influencing factors of postoperative MACE in patients with PCI guided by intra-coronary ultrasound. Results:The left ventricular end-diastolic inner diameter (LVEDD), N-terminal B-type natriuretic peptide (NT-proBNP), creatine kinase isoenzyme (CK-MB), BUN and B/A in the observation group were higher than those in the control group, and left ventricular ejection fraction (LVEF) and ALB were lower than those in the control group (all P<0.05). NT-proBNP, CK-MB, BUN and B/A in the poor prognosis group were higher than those in the good prognosis group, and LVEF and ALB were lower than those in the good prognosis group (all P<0.05). ROC curve results showed that the AUC of peripheral blood BUN, ALB and B/A predicting postoperative MACE in patients with PCI guided by intra-coronary ultrasound were 0.833(95% CI: 0.783-0.883), 0.859(95% CI: 0.809-0.909) and 0.922(95% CI: 0.872-0.972). Multivariate logistic regression analysis showed that LVEF [ OR(95% CI)=1.952(1.317-2.895)], NT-proBNP [ OR(95% CI)=2.625(1.643-4.193)], BUN [ OR(95% CI)=3.353(1.922-5.851)], ALB [ OR(95% CI)=3.792(2.049-7.018)] and B/A [ OR(95% CI)=3.277(2.000-5.370)] were all the influencing factors of postoperative MACE in patients undergoing PCI guided by intra-coronary ultrasound ( P<0.05). Conclusions:The level of B/A in patients with PCI guided by intra-coronary ultrasound increased before surgery, and the high level of B/A is a risk factor for postoperative MACE, which can be used as a biological index to evaluate the postoperative MACE in patients with PCI guided by intra-coronary ultrasound.