Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex / 中华医学遗传学杂志

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.

Analysis of CLCN4 gene variant in a child with Raynaud-Claes syndrome / 中华医学遗传学杂志

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.

Application of fluorescence in situ hybridization combined with chromosomal karyotyping analysis in children with disorders of sex development due to sex chromosome abnormalities / 中华医学遗传学杂志

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.

Application of enhanced recovery after surgery in perioperative treatment of type biliary dilatation in children / 中华肝胆外科杂志

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.