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

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.

Objective:To explore the effectiveness of rapid cycle deliberate practice (RCDP) in training newly hired nurses′comprehensive emergency competence and to provide references for enhancing their capabilities.Methods:A quasi-experimental study was conducted using purposeful sampling. From September to December 2022, newly hired nurses at Liaocheng Second People′s Hospital were selected as research subjects and randomly assigned to a controlor an observation group using random number table. The control group received traditional group drill training, while the observation group underwent RCDP training. The study compared pre- and post-training scores of emergency theory and skill assessments, scores on the Chinese version of the Perceived Cognitive Ability Scale in Emergency Situations (PCAS), and training satisfaction levels between the two groups.Results:Each group comprised 30 nurses. The control group consisted of 3 males and 27 females, with a mean age of (22.70 ± 1.09) years; the observation group included 2 males and 28 females, with a mean age of (22.93 ± 0.87) years. Post-training comprehensive emergency competence assessment scores was (89.19 ± 1.47) in the control group and (93.00 ± 1.41) in the observation group, with a statistically significant difference ( t = - 4.60, P<0.01). The scores and total scores of PCAS in the observation group were (34.23 ± 1.91), (12.70 ± 1.62), (10.03 ± 1.52) and (56.97 ± 3.09), respectively, which were higher than the (31.70 ± 2.42), (11.90 ± 1.16), (9.10 ± 1.42), and (52.47 ± 3.65) in the control group, the difference between the two groups were statistically significant ( t value were - 5.16 - - 2.20, all P<0.05). The total score of training satisfaction of nurses in the observation group was (41.93 ± 2.53) points, and the difference was statistically significant compared with the (33.80 ± 2.58) pointsin the control group ( t = - 12.33, P<0.01). Conclusions:The application of the RCDP method in training newly recruited nurses′comprehensive emergency competence effectively enhances their learning enthusiasm and initiative, thereby improving training outcomes.

Objective:To investigate the practical value of pancreatic duct bind with supporting tube combined with single-needle suture for pancreaticojejunostomy in laparoscopic pancreaticoduodenectomy (LPD).Methods:The clinical data of 65 patients with pancreatic head or periampullary tumors who underwent LPD at the First Affiliated Hospital of Kunming Medical University between January 2021 and June 2024 were retrospectively analysed. Among them, 31 were male and 34 were female, aged (57.7±13.3) years. The patients were divided into two groups based on the method of pancreaticojejunostomy: 22 patients who underwent pancreatic duct bind with supporting tube single-needle suture pancreaticojejunos-tomy were included in the study group, 43 patients who underwent traditional pancreatic duct-to-mucosa pancreaticojejunostomy were included in the control group. The clinical data of the patients, including gender, age, operation time, pancreaticojejunostomy time, and postoperative complications, etc. were recorded.Results:Compared with the control group, the pancreaticojejunostomy time [(25.3±2.4) min vs. (47.0±3.9) min] and operation time [(425.2±52.1) min vs. (453.7±30.8) min] of the study group were both shortened, and the differences were statistically significant (both P<0.05). There was no statistically significant difference in the postoperative complication rate between the study group and the control group [18.2% (4/22) vs. 34.9% (15/43), P=0.161]. The incidence of clinically relevant pancreatic fistula in the study group was lower than that in the control group [4.5% (1/22) vs. 30.2% (13/43)], and the difference was statistically significant ( P=0.024). Conclusion:Pancreatic duct bind with supporting tube combined with single-needle suture pancreaticojejunostomy is safe and effective in LPD. Compared with traditional pancreatic duct-to-mucosa pancreaticojejunostomy, pancreatic duct bind with supporting tube combined with single-needle suture pancreaticojejunostomy has advantages in terms of clinically relevant pancreatic fistula rate, operation time, and pancreaticojejunostomy time.

OBJECTIVE: To explore the clinical features, genetic characteristics in a child with Miller-McKusick-Malvaux syndrome (3MS) type 1 caused by CUL7 gene variant. METHODS: A child diagnosed with 3MS type 1 at the Children's Hospital Affiliated to Zhengzhou University in February 2021 was selected as the subject of this study. Peripheral blood samples were collected from the child and her parents for genomic DNA extraction. Whole exome sequencing (WES) was performed on the child, and Sanger sequencing was used to validate the candidate variants and analyze their pathogenicity. A literature search was conducted using the keywords "3M syndrome" in the China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, and PubMed databases from inception to December 2024. The clinical data of Chinese children with 3MS reported in the literature were summarized. This study was approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-020). RESULTS: The child was a 6-year-old and 2-month-old female with facial dysmorphism, skeletal abnormalities, and growth and developmental delay. WES revealed compound heterozygous variants in the CUL7 gene: c.2686G>T (p.E896*) and c.1200delT (p.R401Gfs66). Sanger sequencing confirmed that these two variants were inherited from the child's father and mother, respectively. According to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants, c.2686G>T (p.E896) was classified as a pathogenic (PVS1+PM2_Supporting+PM3), and c.1200delT (p.R401Gfs*66) was classified as a likely pathogenic (PVS1+PM2_Supporting). Based on the literature search strategy, 18 relevant articles were identified, including a total of 32 Chinese cases of 3MS, of which 8 were fetuses. A total of 32 Chinese 3MS cases were included in the literature review, of which 8 were fetuses. The majority of these cases carried variants in the CUL7 gene (20/32, 62.5%) and OBSL1 gene (12/32, 37.5%). The main clinical manifestations included intrauterine or postnatal growth and developmental delay (32/32, 100.0%), triangular facies (27/32, 84.3%), and skeletal abnormalities (21/32, 65.6%). CONCLUSION The compound heterozygous variants c.2686G>T (p.E896*) and c.1200delT (p.R401Gfs*66) in the CUL7 gene are likely the genetic cause of 3MS type 1 in the child. For children presenting with facial dysmorphism, skeletal abnormalities, and intrauterine or postnatal growth and developmental delay, 3MS should be considered as a differential diagnosis.
Humans ; Cullin Proteins/genetics* ; Female ; Child ; Limb Deformities, Congenital/genetics* ; Exome Sequencing ; Mutation ; Child, Preschool ; Dwarfism ; Muscle Hypotonia ; Spine/abnormalities*

Objective:To investigate the practical value of pancreatic duct bind with supporting tube combined with single-needle suture for pancreaticojejunostomy in laparoscopic pancreaticoduodenectomy (LPD).Methods:The clinical data of 65 patients with pancreatic head or periampullary tumors who underwent LPD at the First Affiliated Hospital of Kunming Medical University between January 2021 and June 2024 were retrospectively analysed. Among them, 31 were male and 34 were female, aged (57.7±13.3) years. The patients were divided into two groups based on the method of pancreaticojejunostomy: 22 patients who underwent pancreatic duct bind with supporting tube single-needle suture pancreaticojejunos-tomy were included in the study group, 43 patients who underwent traditional pancreatic duct-to-mucosa pancreaticojejunostomy were included in the control group. The clinical data of the patients, including gender, age, operation time, pancreaticojejunostomy time, and postoperative complications, etc. were recorded.Results:Compared with the control group, the pancreaticojejunostomy time [(25.3±2.4) min vs. (47.0±3.9) min] and operation time [(425.2±52.1) min vs. (453.7±30.8) min] of the study group were both shortened, and the differences were statistically significant (both P<0.05). There was no statistically significant difference in the postoperative complication rate between the study group and the control group [18.2% (4/22) vs. 34.9% (15/43), P=0.161]. The incidence of clinically relevant pancreatic fistula in the study group was lower than that in the control group [4.5% (1/22) vs. 30.2% (13/43)], and the difference was statistically significant ( P=0.024). Conclusion:Pancreatic duct bind with supporting tube combined with single-needle suture pancreaticojejunostomy is safe and effective in LPD. Compared with traditional pancreatic duct-to-mucosa pancreaticojejunostomy, pancreatic duct bind with supporting tube combined with single-needle suture pancreaticojejunostomy has advantages in terms of clinically relevant pancreatic fistula rate, operation time, and pancreaticojejunostomy time.

Objective To investigate the association between plasma homocysteine(Hcy)level and coronary artery calcification(CAC)and its clinical predictive efficacy.Methods A total of 172 patients who underwent coronary CT angiography North China University of Science and Technology Affiliated Hospital from April 2019 to May 2021 and CAC score(CACS)＞0 were enrolled.According to the CACS value,the subjects were divided into mild calcification group(n=136)and severe calcification group(n=36),and the clinical characteristics of two groups were compared and analyzed.Multivariate Logistic regression model was used to screen the independent influencing factors of CAC severity,and a prediction model was constructed based on the Hcy detection value.The clinical diagnostic value was evaluated by the receiver operating characteristic(ROC)curve.Results There were significant differences in Hcy,white blood cell count,triglyceride and magnesium ion levels between two groups(P＜0.05).Multivariate Logistic regression analysis showed that Hcy,white blood cell count and magnesium ion level were independent risk factors for the progression of CAC.Furthermore,a regression model based on Hcy was constructed and ROC curve was fitted to evaluate its predictive efficacy.The results suggested that the predictive model had the best performance when the critical value of Hcy was set at 27.4μmol/L:the sensitivity was 55.6％,the specificity was 97.1％,and the area under the curve was 0.765.Conclusion Hcy serves as an independent risk factor for the severity of CAC and can effectively predict the progression of CAC with high accuracy.

Objective:To observe the clinical efficacy of gentle moxibustion at different temperatures in treating people with diarrhea-predominant bowel syndrome(IBS-D)due to spleen deficiency.Methods:A total of 108 IBS-D patients were divided into two groups using the random number table method,with 54 participants in each group.Moxibustion group 1 received gentle moxibustion at(43±1)℃at bilateral Tianshu(ST25)and Zusanli(ST36),lasting 30 min each session;moxibustion group 2 received gentle moxibustion at(37±1)℃at the same points.Both groups received the intervention 3 times weekly for a total of 18 sessions.Abdominal pain intensity,stool form,pattern-based efficacy,quality of life,and mental health assessments were performed at weeks 0,3,6,and 8.Results:The total effective rate for abdominal pain intensity was 87.8%in moxibustion group 1 versus 51.1%in moxibustion group 2,and the difference was statistically significant(P<0.05).When the treatment finished,abdominal pain intensity,the Bristol score,IBS-symptom severity scale(IBS-SSS)score,self-rating anxiety scale(SAS)score,and self-rating depression scale(SDS)score dropped significantly in both groups(P<0.05),and the IBS-quality of life(IBS-QOL)score increased markedly(P<0.05).Between-group comparisons demonstrated that abdominal pain intensity,the Bristol general score,IBS-SSS score,traditional Chinese medicine(TCM)pattern score,and SDS score were significantly lower in moxibustion group 1 than in moxibustion group 2 at treatment week 6(P<0.05),and the IBS-QOL score was notably higher in moxibustion group 1(P<0.05).Conclusion:Whether at 43℃or 37℃,gentle moxibustion at Tianshu(ST25)and Zusanli(ST36)can improve abdominal pain,stool form,and quality of life,reduce disease severity,and mitigate TCM pattern in IBS-D patients;43℃gentle moxibustion performs better than 37℃gentle moxibustion in improving abdominal pain,stool form,disease severity,TCM pattern,quality of life,anxiety,and depression in IBS-D.

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 explore the effectiveness of rapid cycle deliberate practice (RCDP) in training newly hired nurses′comprehensive emergency competence and to provide references for enhancing their capabilities.Methods:A quasi-experimental study was conducted using purposeful sampling. From September to December 2022, newly hired nurses at Liaocheng Second People′s Hospital were selected as research subjects and randomly assigned to a controlor an observation group using random number table. The control group received traditional group drill training, while the observation group underwent RCDP training. The study compared pre- and post-training scores of emergency theory and skill assessments, scores on the Chinese version of the Perceived Cognitive Ability Scale in Emergency Situations (PCAS), and training satisfaction levels between the two groups.Results:Each group comprised 30 nurses. The control group consisted of 3 males and 27 females, with a mean age of (22.70 ± 1.09) years; the observation group included 2 males and 28 females, with a mean age of (22.93 ± 0.87) years. Post-training comprehensive emergency competence assessment scores was (89.19 ± 1.47) in the control group and (93.00 ± 1.41) in the observation group, with a statistically significant difference ( t = - 4.60, P<0.01). The scores and total scores of PCAS in the observation group were (34.23 ± 1.91), (12.70 ± 1.62), (10.03 ± 1.52) and (56.97 ± 3.09), respectively, which were higher than the (31.70 ± 2.42), (11.90 ± 1.16), (9.10 ± 1.42), and (52.47 ± 3.65) in the control group, the difference between the two groups were statistically significant ( t value were - 5.16 - - 2.20, all P<0.05). The total score of training satisfaction of nurses in the observation group was (41.93 ± 2.53) points, and the difference was statistically significant compared with the (33.80 ± 2.58) pointsin the control group ( t = - 12.33, P<0.01). Conclusions:The application of the RCDP method in training newly recruited nurses′comprehensive emergency competence effectively enhances their learning enthusiasm and initiative, thereby improving training outcomes.