Objective:To investigate the feasibility and safety of perimembranous ventricular septal defects (PmVSD) closure solely by femoral vein approach under transesophageal echocardiography (TEE) guidance.Methods:From January 1,2014 to May 31,2016,26 patients with PmVSD in Second Xiangya Hospital were selected,with age at 3.2-6.0 (4.3±0.7) years old and body weight at 15.0-19.5 (16.7±1.4) kg.The diameter of VSD was 3.5-4.8 (4.1±0.3) mm.All patients were treated by percutaneous PmVSD closure solely by femoral vein approach under TEE guidance.The effect of the procedure was evaluated by TEE and transthoracic echocardiography (TTE).The clinical follow-up study was conducted by TTE at 1,3,6 and 12 month (s) after the procedure.Results:Twenty cases were successfully treated with percutaneous PmVSD closure solely by femoral vein approach under TEE guidance,and the success rate was 76.9％.Six patients were converted to perventricular closure under TEE guidance because the guide wire in two cases or catheter in other cases could not pass through PmVSD.The diameter of symmetrical VSD occluder was 6.0-7.0 (6.2±0.4) mm.The procedural time was 12.0-64.0 (26.8±6.3) min.The residence time at ICU was 1.8-2.4 (26.8±6.3) h.The in-hospital time was 4.0-5.0 (4.4±0.5) d.There were 3 patients with immediate post-operative trivial residual shunt and incomplete right bundle branch block (IRBBB).All patients survived with no peripheral vascular injury or complications such as tricuspid regurgitation,pericardial tamponade and pulmonary infection.The residual shunt disappeared in 3 patients and IRBBB became normal rhythm in 3 patients at 1 month follow-up time point.No patients suffered from occluder malposition,residual shunt,pericardial effusion,arrhythmia (atrio-ventricular block),aortic valve regurgitation and tricuspid regurgitation.Conclusion:TEE-guided percutaneous PmVSD closureby femoral vein approach is safe and effective.

Objective:To evaluate the feasibility and safety of device closure of patent ductus arteriosus (PDA)using only venous access under echocardiography guidance alone.Methods:A total of 102 consecutive pediatric patients underwent transcatheter PDA closure without arterial access,under the guidance of only echocardiography.The patients were followed up by clinical examination,electrocardiogram,and echocardiogram at 1,3,6 12,and 24 months.Results:Transvenous PDA closure under echocardiographic guidance was successful in 99 (97.1％)patients.There were no acute procedural complications or severe adverse events.The duration ranged from 10 to 65 minutes (median,21 minutes).Immediate complete closure of PDA was achieved in 87 patients (87.9％),and 100％ of the patients were completely closed after 24 h.There were no severe adverse events in the period of 1-24 months (median,12 months) follow up.Conclusion:Transvenous PDA closure without fluoroscopy avoids radiation exposure,contrast agent usage and potential arterial complications.It can be used as an alternative procedure,especially for children.

Objective To study the clinical value of enhanced recovery after surgery (ERAS) in the perioperative treatment of type Ⅰ (Todami,1975) biliary dilatation (BD) of children.Methods To retrospectively analyze the data of children with type Ⅰ BD who were treated in the General Surgery Department of Zhengzhou Children's Hospital from June 2014 to May 2018.A total of twenty children with type Ⅰ BD treated with ERAS and 20 children treated with the traditional method in our department were selected in this study using the random number table method.Postoperative indicators (including operation time,first defecation time,changes in amylase in blood and abdominal cavity exudates,length of hospital stay,and hospitalization fee) and relevant postoperative complications (including sore throat,nausea and vomiting,urethral pain,upper respiratory tract infection,incision wound infection,adhesive intestinal obstruction,anastomotic leakage and pancreatic fistula) of the ERAS group and the control group were compared.Results The first defecation time,length of hospital stay and hospitalization fee were significantly lower in the ERAS group than the control group (all P ＜ 0.05) [first defecation time (1.98 ± 0.25) d vs.(2.25 ± 0.31) d;length of hospital stay (6.91 ± 1.25) d vs.(9.95 ± 1.53) d;hospitalization fee (23.32 ± 2.25)thousand yuan vs.(25.99 ±3.10) thousand yuan].Moreover,the incidences of sore throat,nausea and vomiting,urethral pain and upper respiratory tract infection were significantly lower in the ERAS group than the control group (all P ＜ 0.05) [the incidences of sore throat (5.0％ vs.45.0％);the incidences of sickness and vomiting (5.0％ vs.30.0％);the incidences of urethral pain (5.0％ vs.45.0％);the incidences of upper respiratory tract infection (5.0％ vs.40.0％)].On the other hand,there were no significant differences in the mean operation times,changes in amylase levels in the blood or abdominal cavity exudates,incision wound infection,and incidences of adhesive intestinal obstruction,anastomotic leakage and pancreatic fistula (all P ＞ 0.05).Conclusions ERAS for type Ⅰ BD surgery was safe and reliable in children.It effectively promoted recovery of postoperative gastrointestinal function and reduced the incidence of complications.

Objective:To analyze the clinical and genetic characteristics of a child featuring Dias-Logan syndrome.Methods:A child with speech disorders and delayed psychomotor development from childhood who was admitted to the Rehabilitation Medicine Department of Children′s Hospital Affiliated to Zhengzhou University in July 2022 was selected as the research subject. Clinical data of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Potential variant was screened by whole exome sequencing, and candidate variant was verified by Sanger sequencing. This study was approved by the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2023-K-011).Results:The child has presented with global developmental delay, microcephaly, special facial features and behavioral problems. Genetic testing revealed a de novo variant of the BCL11A gene, namely c. 561_567delACACGCA(p.Q187fs*7), which was classified as pathogenic (PVS1+ PS2+ PM2_Supporting). Conclusion:The heterozygous variant of BCL11A gene probably underlay the Dias-Logan syndrome in this child. Above finding has enriched the phenotypic and mutational spectrum of the BCL11A gene and provides a basis for genetic counseling and clinical decision-making.

OBJECTIVE: To retrospectively analyze sex chromosomal abnormalities and clinical manifestations of children with disorders of sex development (DSD). METHODS: A total of 14 857 children with clinical features of DSD including short stature, cryptorchidism, hypospadia, buried penis and developmental delay were recruited from Zhengzhou Children's Hospital from January 2013 to March 2022. Fluorescence in situ hybridization (FISH) and chromosomal karyotyping were carried out for such children. RESULTS: In total 423 children were found to harbor sex chromosome abnormalities, which has yielded a detection rate of 2.85%. There were 327 cases (77.30%) with Turner syndrome and a 45,X karyotype or its mosaicism. Among these, 325 were females with short stature as the main clinical manifestation, 2 were males with short stature, cryptorchidism and hypospadia as the main manifestations. Sixty-two children (14.66%) had a 47,XXY karyotype or its mosaicism, and showed characteristics of Klinefelter syndrome (KS) including cryptorchidism, buried penis and hypospadia. Nineteen cases (4.49%) had sex chromosome mosaicisms (XO/XY), which included 11 females with short stature, 8 males with hypospadia, and 6 cases with cryptorchidism, buried penis, testicular torsion and hypospadia. The remainder 15 cases (3.55%) included 9 children with a XYY karyotype or mosaicisms, with main clinical manifestations including cryptorchidisms and hypospadia, 4 children with a 47,XXX karyotype and clinical manifestations including short stature and labial adhesion, 1 child with a 46,XX/46,XY karyotype and clinical manifestations including micropenis, hypospadia, syndactyly and polydactyly, and 1 case with XXXX syndrome and clinical manifestations including growth retardation. CONCLUSION Among children with DSD due to sex chromosomal abnormalities, sex chromosome characteristics consistent with Turner syndrome was most common, among which mosaicism (XO/XX) was the commonest. In terms of clinical manifestations, the females mainly featured short stature, while males mainly featured external genital abnormalities. Early diagnosis and treatment are particularly important for improving the quality of life in such children.
Humans ; Male ; Female ; Turner Syndrome/genetics* ; In Situ Hybridization, Fluorescence ; Cryptorchidism ; Hypospadias ; Retrospective Studies ; Quality of Life ; Sex Chromosome Aberrations ; Karyotyping ; Mosaicism ; Disorders of Sex Development/genetics*

OBJECTIVE: To analyze the clinical phenotype and genetic variant in a child with Raynaud-Claes syndrome (RCS). METHODS: A child who was diagnosed with RCS at the Children's Hospital Affiliated to Zhengzhou University for delayed language and motor development in August 2022 was selected as the study subject. Clinical data of the child were collected, and potential genetic variant was detected by next-generation sequencing and Sanger sequencing. The pathogenicity of the candidate variant was analyzed. RESULTS: The child, a 4-year-and-4-month-old male, has manifested global developmental delay, speech disorders, special facial features and behavioral abnormalities. Genetic testing revealed that he has harbored a hemizygous c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene, which was not detected in either of his parents. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION The c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene probably underlay the PCS in this child. Above finding has expanded the mutational spectrum of the CLCN4 gene and enabled genetic counseling and prenatal diagnosis for his family.
Female ; Humans ; Male ; Pregnancy ; Chloride Channels/genetics* ; Genetic Counseling ; Genetic Testing ; Genomics ; High-Throughput Nucleotide Sequencing ; Mutation ; Child, Preschool

OBJECTIVE: To explore the clinical characteristics and genetic variants in two children with Tuberous sclerosis complex (TSC). METHODS: Two children who had presented at the Children's Hospital Affiliated to Zhengzhou University respectively in June 2020 and July 2021 were selected as the study subjects. Clinical data of the children were collected, and potential pathogenic variants were screened by whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of their family members. RESULTS: Child 1 was a 7-month-and-29-day-old male, and child 2 was a 2-year-and-6-month-old male. Both children had shown symptoms of epileptic seizures and multiple hypomelanotic macules. Genetic testing revealed that both children had harbored de novo variants of the TSC2 gene, namely c.3239_3240insA and c.3330delC, which were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION This study has uncovered the genetic etiology for two children with TSC. Above findings have also enriched the phenotypic and mutational spectrum of TSC in the Chinese population.
Humans ; Infant ; Male ; Family ; Genetic Testing ; Genomics ; Mutation ; Tuberous Sclerosis/genetics* ; Child, Preschool ; East Asian People

Disturbances of gut microbiota may affect the balance of the host immune system.The metabolism of gut microbiota produces many bioactive molecules interacting with host,typically secondary bile acids(SBAs).SBAs are involved in regulating the energy metabolism and the expression of inflammatory response-related genes by bind-ing to membrane receptors and nuclear receptors,such as takeda G protein-coupled receptor(TGR5)and farnesol X receptor(FXR),which are essential for maintaining host immune homeostasis.