Objective:To investigate the clinical efficacy of laparoscopic iliopubic tract-to-arcuate inferior edge of transversus abdominis suture tightening of the internal ring combined with high ligation of the hernia sac in pediatric giant inguinal hernias.Methods:Randomized controlled study.Clinical data of 62 hernia sides in 61 children with inguinal hernia admitted to the Department of Minimally Invasive Urology, Children′s Hospital Affiliated to Shandong University from March 2021 to June 2024 were retrospectively analyzed.The maximum internal ring diameter, measured intraoperatively using an equal proportional indirect measurement technique, was >1.5 cm, defining a giant hernia.One child had bilateral giant hernias.Patients were divided into 2 groups based on surgical technique: the control group [29 sides (28 patients)] underwent traditional laparoscopic high ligation of the hernia sac; the study group [33 sides (33 patients)] underwent the laparoscopic iliopubic tract-to-arcuate inferior edge of transversus abdominis suture tightening of the internal ring combined with high ligation of the hernia sac.Independent sample t-test, Mann-Whitney U test, and Fisher′s exact test were used to compare preoperative characteristics and postoperative complication rates between the two groups. Results:The study group had a median age of 38.00 (20.00, 107.50) months, 93.9%(31/33) were male, and median maximum internal ring diameter was 1.61(1.53, 1.82) cm.The control group had a median age of 32.50 (22.25, 65.00) months, 78.6%(22/28) were male, and median maximum internal ring diameter was 1.58 (1.54, 1.71) cm.There were no statistically significant differences in baseline characteristics between groups (all P>0.05). The operative time for the suture tightening/high ligation component was longer in the study group [(21.73±9.81) minutes] compared to the simple high ligation time in the control group [(16.69±7.36) minutes], with statistical significance ( t=-2.262, P=0.027). In terms of recurrence rate, there was a statistically significant difference between the study group(0) and the control group (4 cases, 13.80%) ( P=0.043). There was no statistical difference between the two groups in the incidence of other complications including intraoperative bleeding, groin area edema, or pain (all P>0.05). Conclusions:The laparoscopic iliopubic tract-to-arcuate inferior edge of transversus abdominis suture tightening of the internal ring combined with high ligation of the hernia sac can effectively reduces postoperative recurrence when applied to the treatment of large hernias and is safe, making it a technique worthy of promotion.

Objective:To investigate the clinical efficacy of laparoscopic iliopubic tract-to-arcuate inferior edge of transversus abdominis suture tightening of the internal ring combined with high ligation of the hernia sac in pediatric giant inguinal hernias.Methods:Randomized controlled study.Clinical data of 62 hernia sides in 61 children with inguinal hernia admitted to the Department of Minimally Invasive Urology, Children′s Hospital Affiliated to Shandong University from March 2021 to June 2024 were retrospectively analyzed.The maximum internal ring diameter, measured intraoperatively using an equal proportional indirect measurement technique, was >1.5 cm, defining a giant hernia.One child had bilateral giant hernias.Patients were divided into 2 groups based on surgical technique: the control group [29 sides (28 patients)] underwent traditional laparoscopic high ligation of the hernia sac; the study group [33 sides (33 patients)] underwent the laparoscopic iliopubic tract-to-arcuate inferior edge of transversus abdominis suture tightening of the internal ring combined with high ligation of the hernia sac.Independent sample t-test, Mann-Whitney U test, and Fisher′s exact test were used to compare preoperative characteristics and postoperative complication rates between the two groups. Results:The study group had a median age of 38.00 (20.00, 107.50) months, 93.9%(31/33) were male, and median maximum internal ring diameter was 1.61(1.53, 1.82) cm.The control group had a median age of 32.50 (22.25, 65.00) months, 78.6%(22/28) were male, and median maximum internal ring diameter was 1.58 (1.54, 1.71) cm.There were no statistically significant differences in baseline characteristics between groups (all P>0.05). The operative time for the suture tightening/high ligation component was longer in the study group [(21.73±9.81) minutes] compared to the simple high ligation time in the control group [(16.69±7.36) minutes], with statistical significance ( t=-2.262, P=0.027). In terms of recurrence rate, there was a statistically significant difference between the study group(0) and the control group (4 cases, 13.80%) ( P=0.043). There was no statistical difference between the two groups in the incidence of other complications including intraoperative bleeding, groin area edema, or pain (all P>0.05). Conclusions:The laparoscopic iliopubic tract-to-arcuate inferior edge of transversus abdominis suture tightening of the internal ring combined with high ligation of the hernia sac can effectively reduces postoperative recurrence when applied to the treatment of large hernias and is safe, making it a technique worthy of promotion.

OBJECTIVE: To explore the genetic basis for a fetus with Cardiac-urogenital syndrome (CUGS). METHODS: A fetus with congenital heart disease identified at the Maternal Fetal Medical Center for Fetal Heart Disease, Beijing Anzhen Hospital Affiliated to Capital Medical University in January 2019 was selected as the study subject. Clinical data of the fetus was collected. Copy number variation sequencing (CNV-seq) and trio-whole exome sequencing (trio-WES) were carried out for the fetus and its parents. Candidate variants were verified by Sanger sequencing. RESULTS: Detailed fetal echocardiographic examination had revealed hypoplastic aortic arch. The results of trio-WES revealed that the fetus has harbored a de novo splice variant of the MYRF gene (c.1792-2A>C), for which both parents were of the wild-type. Sanger sequencing confirmed the variant to be de novo. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic. CNV-seq has identified no chromosomal anomalies. And the fetus was diagnosed with Cardiac-urogenital syndrome. CONCLUSION The de novo splice variant of the MYRF gene probably underlay the abnormal phenotype in the fetus. Above finding has enriched the spectrum of MYRF gene variants.
Female ; Humans ; DNA Copy Number Variations ; Fetal Diseases ; Fetus/abnormalities* ; Heart Defects, Congenital/genetics* ; Mutation ; Transcription Factors/genetics*

We report a fetus presented with complex cardiac malformations, pulmonary atresia with ventricular septal defect, detected by fetal echocardiography at 17 +4 weeks. The pregnancy was terminated after routine counseling and genetic tests were performed on umbilical cord of the induced fetus and peripheral blood samples of the parents. Whole-exome sequencing identified a novel maternally-inherited and likely pathogenic variation hemizygous nonsense variant, c.1651C>T (p.Gln551*) in the OTUD5 gene (NM_017602.3), which was confirmed by subsequent Sanger sequencing. The fetus was finally diagnosed as X-linked multiple congenital anomalies-neurodevelopmental syndrome.

Objective:To investigate the preoperative ascending aorta diameter in patients with acute type A aortic dissection in the Chinese population, compares and analyze the differences in preoperative blood biomarkers, and evaluate the impact of the preoperative ascending aorta diameter in this part of patients on the short-term prognosis of patients.Methods:A collection of 641 patients with acute type A aortic dissection who were enrolled in the " Acute Aortic Syndrome High-Risk Early Warning and Intervention Study" project from January 2018 to January 2020 were collected. Divide the patients into two groups (group Ⅰ<55 mm, group Ⅱ≥55 mm) according to the preventive intervention value of ascending aorta diameter recommended by the guideline for studying preoperative ascending aorta diameter difference in blood biomarkers and the influence of ascending aorta diameter on the short-term prognosis of patients. All patients had CT scans to assess the diameter of the ascending aorta before operation.Results:In this study, all patients with acute type A aortic dissection had a mean preoperative ascending aorta diameter of (46.9±9.7)mm. The preoperative ascending aorta diameter of all patients was less than 55 mm, accounted for 84.1%. Male patients were more likely to have aortic dissection than females; most patients' age was less than 60 years old. The preoperative blood inflammatory index counts were higher in the ascending aorta diameter ≥55 mm group. However, the long-term prognosis of patients with different ascending aorta diameters before surgery was not apparent in this study. The preoperative survival rate and short-term survival rate of patients with ascending aorta diameter <55 mm were higher than those of other groups, but the difference was not statistically significant.Conclusion:In patients with acute type A aortic dissection, the diameter of the ascending aorta is usually less than 55 mm. Moreover, the blood inflammatory index counts are high in the preoperative ascending aorta diameter ≥55 mm group. Meanwhile, patients with smaller ascending aorta diameter have better survival rate and short-term prognosis.

Objective To investigate the correlations between the FBN1 gene mutation types and the clinical phenotype . Methods 87 probands with Marfan or Marfan-like syndromes and their family members were enrolled in this study ( total 300 cases).The clinical manifestations of each patients involving the ocular, cardiovascular system, skeletal system and other im-plicated systems were collected and evaluated .According to the clinical manifestations , these patients were divided into two groups, namely aortic dissection group and aortic root aneurysm group.Blood samples were taken from patients and DNA se-quencing was performed on each patient by the genetic aortic disease gene Panel .The detected single nucleotide variants ( SNVs)/indel were interpreted according to the ACMG guidelines, and the pathogenic variation was confirmed through Sanger sequencing.The aortic wall tissue was obtained from MFS patients who underwent surgery .The correlations between genotypes and clinical phenotypes were further explored by comparing the aortic wall tissue histological specimens of each genotype pa-tient.Results A total of 92 FBN1 mutations(31％) were detected in 300 people with Marfan syndromes or Marfan-like syn-dromes, 18 of which were undiscovered mutations.There were 49 missense mutations(53.26％), 13 splicing mutations (14.13％), 17 frameshift mutations(18.48％), and 13 nonsense mutations(14.13％).In this cohort, 24 cases had aortic dissection and 25 cases were aortic root aneurysm.Statistical analysis revealed that patients with aortic dissection mostly ap-peared in frameshift mutations(29.17％ vs.4.00％, P =0.017).However, patients with aortic root aneurysm mostly ap-peared in missense mutations(72.00％ vs.37.50％, P =0.015), and accompanied with ectopia lentis(41.67％ vs. 8.33％, P=0.008).Pathological specimens staining found that elastic fibers in the aortic wall of patients with frameshift mu-tations are sparser, and the smooth muscle cells are more deficient and more disorganized than patients with missense muta-tions.Conclusion FBN1 gene frameshift mutations result a lack of elastic fibers and disorganized smooth muscle cells in aor-tic wall and are presented more in patients with aortic dissection than aortic root aneurysm .

Objective To explore the genetic mutation spectrum of patients with hypertrophic cardiomyopathy (HCM) and analysis the correlation of genotype phenotype.Methods Collect peripheral venous blood of the 51 cases unrelated HCM patients(35 male and 16 female) in the Beijing Anzhen Hospital of Capital Medical University from 2013 to 2016.Sequence whole exons of human and analysis seven major mutations of HCM including:MYBPC3、MYH7 、TNNT2、TNNI3 、MYL2 、TPM1 and ACTC1.Then compare the results with clinical characteristics.Results 24 patients(47.1％) had 22 kinds of pathogenicity or possibly pathogenicity mutations.The 90.9％ (20/22) of mutations only occurred one time,except MYH7 gene's 663 amino acid and the TNND gene's 157 amino acid which had twice.The mutations of MYBPC3,MYH7,TNNT2,TNNI3,MYL2,TPM1 and ACTC1 accounted for 45.8％ (11/24),20.8％ (5/24),12.5％ (3/24),8.3％ (2/24),8.3％ (2/24),4.2％ (1/24),and 0 respectively.No amphimutation had been found that causes illness or possibly.Through the comparison of clinical features between Genotype positive(24 cases) and negative(27 cases) patients:the incidence of syncope(19.6％ vs.7.8％,P ＜ 0.05),the largest left ventricular wall thickness[(22.8 ± 2.6) mm vs.(20.0 ± 3.4) mm,P ＜ 0.05],family history of HCM(20.8％ vs.0,P ＜0.05),percentage of apical hypertrophy(25.5％ vs.11.8％,P ＜ 0.05);The ratio of left ventricular outflow tract obstruction in MYH7 group was higher than MYBPC3 group (80.0％ vs.18.2％,P ＜ 0.05).Conclusion MYBPC3 is the most common mutation gene in HCM patients.Phenotype is more severe in geuotype positive patients than in genotype negative patients.Relationship between specific gene mutations and clinical phenotype requires further study.