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 relationship between obesity indicators and DNA methylation clocks acceleration,and to analyze their temporal sequence.Methods:Data were obtained from two sur-veys conducted in 2013 and 2017-2018 by the Chinese National Twin Registry.Peripheral blood DNA methylation data were measured using the Illumina Infinium Human Methylation 450K BeadChip and EPIC BeadChip.DNA methylation clocks/acceleration metrics(GrimAA,PCGrimAA and Dunedin-PACE)were calculated using the DNA methylation online tool(https://dnamage.genetics.ucla.edu/)or R code provided by researchers.Obesity indicators included weight,body mass index(BMI),waist circumference,waist-hip ratio,and waist-height ratio.A total of 1 070 twin individuals were included in the cross-sectional analysis,comprising 378 monozygotic(MZ)twin pairs and 155 dizygotic(DZ)twin pairs for within-pair analysis.Mixed-effects models were used to examine the associations between obesity indicators and DNA methylation clocks,as well as their acceleration measures.The longitudinal analysis included 314 twin individuals,comprising 95 MZ twin pairs and 62 DZ twin pairs for within-pair analy-sis.Cross-lagged panel models were applied to further explore the temporal relationships between obesity and DNA methylation clock indicators.All analyses were conducted both in the full twin sample and separately within MZ and DZ twin pairs.Results:In the cross-sectional analysis population,monozygotic twins accounted for 71.0％,males for 68.0％,and the mean chronological age was(49.9±12.1)years.In the longitudinal analysis population,monozygotic twins accounted for 60.5％,males for 60.8％,with a mean baseline chronological age of(50.4±10.2)years and a mean follow-up duration of(4.6±0.6)years.Except for the waist-to-hip ratio,which was significantly higher at follow-up com-pared with baseline,no statistically significant differences were observed in the means of other obesity in-dicators between baseline and follow-up.Correlation analysis revealed that weight,BMI,waist circumfe-rence,waist-hip ratio(WHR),and waist-height ratio(WHtR)were positively correlated with Dunedin-PACE in all the twins,with WHtR showing the strongest association(β=0.21,95％CI:0.11 to 0.31).Weight and BMI were negatively associated with GrimAA(β=-0.03,95％CI:-0.05 to-0.01;β=-0.07,95％CI:-0.12 to-0.02),while weight was negatively associated with PCGrim-AA(β=-0.02,95％CI:-0.03 to 0.00).However,within-twin-pair analyses showed no statistically significant correlations.Cross-lagged panel model analysis indicated that higher baseline weight might lead to increased GrimAA at follow-up,while elevated baseline weight,BMI,and waist circumference might increase PCGrimAA.Higher baseline WHR was associated with increased DunedinPACE at follow-up.Conclusion:Obesity indicators correlate with DNA methylation clock acceleration metrics.Baseline obesity may influence changes in certain DNA methylation clock indicators over time,suggesting that obesity could exert long-term health effects by accelerating DNA methylation aging.However,these associations may be confounded by shared genetic or environmental factors among the twins.

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.

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.

To investigate the clinical value of endoscopic ultrasound-guided puncture drainage in the treatment for liver abscess and abdominal and pelvic abscess with difficulty in conventional puncture drainage. Data of 12 such patients in the Second Affiliated Hospital of Soochow University from January 2015 to November 2023 were retrospectivly analyzed. Results showed liver abscess in 4 cases, abdominal and pelvic abscess in 8 cases. All patients had fever with varying degrees of abdominal pain. Twelve patients with liver abscess and abdominal and pelvic abscess received 13 times of endoscopic ultrasound-guided puncture (1 patient with a large abdominal and pelvic cyst complicated with infection received transgastric and transrectal puncture of 2 times). The puncture needle was successfully penetrated into the pus cavity. Four patients with liver abscess underwent endoscopic ultrasound-guided suction and irrigation, and the abscess was almost completely aspirated. Seven patients with abdominal and pelvic abscess underwent endoscopic ultrasound-guided suction and irrigation, of which 5 cases were almost completely aspirated, and 2 cases had poor drainage effect due to the viscous pus (1 case returned to normal temperature after anti-infection treatment; 1 case had recurrent fever after the operation, and septic shock and death occurred 2 weeks after the operation). A patient with recurrent abdominal and pelvic sclerosis after the operation had multiple abscesses in the abdomen and pelvis, and percutaneous CT-guided drainage was performed for abdominal abscess, but the fever was still repeated. Endoscopic ultrasound-guided balloon dilation plus double pig tail and nasobiliary duct drainage were performed. The patient's temperature returned to normal and abdominal pain was relieved 48 hours after the operation. The total effective rate of abscess drainage was 83.3% (10/12), and the effective rate of suction combined with irrigation for abscess drainage was 81.8% (9/11), and no operation-related complications were observed in all patients. After 3 months of follow-up, no recurrence occurred in 10 patients with effective drainage of abscess, and abscess was self-absorbed in 1 patient with pelvic abscess without effective drainage and no recurrence was observed. Endoscopic ultrasound-guided puncture drainage is of certain clinical value for some liver abscesses and abdominal and pelvic abscesses that are difficult to be drained by conventional puncture, and can reduce the secondary trauma caused by surgical operations.

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.

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.

To investigate the clinical value of endoscopic ultrasound-guided puncture drainage in the treatment for liver abscess and abdominal and pelvic abscess with difficulty in conventional puncture drainage. Data of 12 such patients in the Second Affiliated Hospital of Soochow University from January 2015 to November 2023 were retrospectivly analyzed. Results showed liver abscess in 4 cases, abdominal and pelvic abscess in 8 cases. All patients had fever with varying degrees of abdominal pain. Twelve patients with liver abscess and abdominal and pelvic abscess received 13 times of endoscopic ultrasound-guided puncture (1 patient with a large abdominal and pelvic cyst complicated with infection received transgastric and transrectal puncture of 2 times). The puncture needle was successfully penetrated into the pus cavity. Four patients with liver abscess underwent endoscopic ultrasound-guided suction and irrigation, and the abscess was almost completely aspirated. Seven patients with abdominal and pelvic abscess underwent endoscopic ultrasound-guided suction and irrigation, of which 5 cases were almost completely aspirated, and 2 cases had poor drainage effect due to the viscous pus (1 case returned to normal temperature after anti-infection treatment; 1 case had recurrent fever after the operation, and septic shock and death occurred 2 weeks after the operation). A patient with recurrent abdominal and pelvic sclerosis after the operation had multiple abscesses in the abdomen and pelvis, and percutaneous CT-guided drainage was performed for abdominal abscess, but the fever was still repeated. Endoscopic ultrasound-guided balloon dilation plus double pig tail and nasobiliary duct drainage were performed. The patient's temperature returned to normal and abdominal pain was relieved 48 hours after the operation. The total effective rate of abscess drainage was 83.3% (10/12), and the effective rate of suction combined with irrigation for abscess drainage was 81.8% (9/11), and no operation-related complications were observed in all patients. After 3 months of follow-up, no recurrence occurred in 10 patients with effective drainage of abscess, and abscess was self-absorbed in 1 patient with pelvic abscess without effective drainage and no recurrence was observed. Endoscopic ultrasound-guided puncture drainage is of certain clinical value for some liver abscesses and abdominal and pelvic abscesses that are difficult to be drained by conventional puncture, and can reduce the secondary trauma caused by surgical operations.

Purpose To quantitatively evaluate the change of left ventricular myocardial work in well-functioning bicuspid aortic valves(BAV)by using left ventricular pressure-strain ring technology,and to explore the correlation between aortic dilation and myocardial work.Materials and Methods A total of 65 patients with well-functioning BAVs admitted to General Hospital of Ningxia Medical University from June 2022 to June 2023 were selected and divided into two groups according to the adjusted inner diameter of the aorta by body surface area:aortic undilated group(35 cases,theaortic diameter<40 mm or aortic size index<22 mm/m2)and aortic dilation group(30 cases,aortic diameter≥40 mm or aortic size index>22 mm/m2),34 healthy patients were enrolled in our study as the control group.The study subjects were analyzed by echocardiography to obtain the left ventricular myocardial work[global longitudinal strain(GLS),global work index(GWI),global constructive work(GCW),global work efficiency(GWE),global wasted work(GWW)]and conventional two-dimensional ultrasound parameters,and the parameters between the three groups were compared and analyzed.Results Compared with the control group,the absolute value of GLS and GWE in the non-dilated aortic group and the aortic dilated group decreased,and the GWI,GCW,GWW,ascending aortic inner diameter and ascending aortic stiffness index were significantly increased(P<0.05).Compared with the non-dilated aortic group,the absolute value of GLS and GWE in the aortic dilation group decreased,and the aortic stiffness index and GWW increased,and the difference was statistically significant(t=-3.567,-2.219,5.266,3.339,all P<0.05).The internal diameter of the ascending aorta was negatively correlated with the absolute value of GLS and GWE(r=-0.219,-0.324,both P<0.001),and positively correlated with GWI,GCW,GWW and ascending aortic stiffness index(r=0.178,0.229,0.315,0.529,all P<0.001).Conclusion Myocardial work is a new method for early detection of subclinical left ventricular myocardial dysfunction in well-functioning BAV,and has potential application value for evaluating the changes in left ventricular myocardial work under the progression of aortic disease in BAV patients.

This study aims to describe the population and regional distribution characteristics of smoking behavior among adult twins in the China Twin Registry (CNTR), as well as the concordance rates for smoking behavior in monozygotic and dizygotic twins, and estimate the heritability. The study population included adult twins in CNTR who had smoking questionnaire data. A random-effects regression model was used to describe the distribution of smoking behavior among different subgroups based on various characteristics. The concordance of smoking behavior between different zygosity groups was calculated, and heritability was estimated. A total of 28 444 twin pairs were included in this study, with an average age of (36.6±12.0) years. Among male twins, 41.2% were current smokers, while only 1.2% of females smoked. Higher smoking rates were observed among male smokers in the 50-59 age group ( z=23.0, P<0.001), northern regions ( z=2.9, P<0.01), rural areas ( z=-5.2, P<0.001), those who were divorced/widowed ( z=3.8, P<0.001), and first-born twins ( z=-4.3, P<0.001), while lower smoking rates were found in those with higher education ( z=-16.1, P<0.001) and unmarried individuals ( z=-16.0, P<0.001). The smoking concordance rate for male monozygotic twins was 69.6%, significantly higher than the 57.3% concordance rate for dizygotic twins ( χ 2=105.0, P<0.05). The heritability of smoking behavior in male twins was estimated at 28.9% (95% CI: 24.3%-33.4%). Stratified analyses showed differences in heritability across regions and age groups: the heritability in northern regions was 32.6% (95% CI: 27.3%-38.0%), higher than the 21.0% (95% CI: 12.4%-29.5%) observed in southern regions; the highest heritability of 35.1% (95% CI: 26.3%-43.9%) was found in the 18-29 age group, with heritability decreasing with age. In conclusion, the smoking rate and influencing factors in the twin population are similar to those in the general population, with unique characteristics, such as higher smoking rates in first-born twins. Genetic factors have a significant impact on smoking behavior.