Phenotypic and mutation analysis of a fetus with Cornelia de Lange syndrome Ⅰ / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic testing for an abortus suspected with Cornelia de Lange syndrome (CdLS).@*METHODS@#History of gestation and the family was taken. Combined with prenatal ultrasonography and the phenotype of the abortus, a diagnosis was made for the proband. Fetal tissue and peripheral blood samples of its parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out to detect mutations related to the phenotype. Suspected mutations were verified in the parents through Sanger sequencing.@*RESULTS@#Prenatal ultrasound found that the forearms and hands of the fetus were anomalous, in addition with poorly formed vermis cerebellum, slight micrognathia, and increased echo of bilateral renal parenchyma. Examination of the abortus has noted upper limb and facial malformations. Whole exome sequencing revealed that the fetus carried a heterozygous c.2118delG (p.Lys706fs) frameshift mutation of the NIPBL gene. The same mutation was not found in either parent.@*CONCLUSION@#The heterozygous c.2118delG (p.Lys706fs) frameshift mutation of the NIPBL gene probably underlies the CdLS in the fetus. Above finding has provided a basis for the genetic counseling for the family.

Diagnosis of a fetus with atelosteogenesis type 2 through combined prenatal ultrasonography and whole exome sequencing / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for fetus with short limbs detected by prenatal ultrasonography.@*METHODS@#Results of clinical imaging of the fetus was collected. Amniotic fluid sample was collected through amniocentesis for the extraction of fetal DNA. Whole exome sequencing was carried out to detect variants related to the clinical phenotypes. Candidate variant was verified by Sanger sequencing.@*RESULTS@#Prenatal ultrasound showed that the fetus had short limbs but no other abnormality. Whole exome sequencing has identified that the fetus carried two heterozygous pathogenic variants c.484G>T and c.1436dupA of the SLC26A2 gene, for which its mother and father were heterozygous carriers, respectively.@*CONCLUSION@#The fetus was diagnosed with atelosteogenesis type 2 by combined prenatal ultrasonography and whole exome sequencing, which may be attributed to the compound heterozygous variants of the SLC26A2 gene. Above findings provided evidence for the diagnosis of the fetus and genetic counseling.

Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome / 中华医学遗传学杂志

OBJECTIVE@#To diagnose a fetus with Papillorenal syndrome by prenatal ultrasonography and genetic testing, and to correlate its genotype with phenotype.@*METHODS@#Ultrasound finding of the fetus was reviewed. Muscle sample of the abortus was taken, and genetic variant related to the clinical phenotype was screened by whole exome sequencing (WES). Suspected pathogenic variant was verified by Sanger sequencing.@*RESULTS@#Prenatal ultrasound revealed severe dysplasia of the fetal kidneys and oligohydramnios. WES revealed that the fetus has carried a c.736G>T (p.Glu246Ter) nonsense variant of the PAX2 gene, which was unreported previously. The result of Sanger sequencing was consistent with that of WES. Both parents of the fetus were of the wild-type, suggesting a de novo origin of the fetal variant.@*CONCLUSION@#The novel heterozygous c.736G>T (p.Glu246Ter) variant of the PAX2 gene probably underlay the Papillorenal syndrome in the fetus. Above finding has provided a basis for genetic counseling and clinical decision-making.

Recovery of cardiac function in patients with frequent premature ventricular contraction after radiofrequcency catheter ablation by noninvasive hemodynamic detection technique / 军事医学

Objective To explore the change in cardiac function in patients with idiopathic frequent premature ventricular contraction(PVC) after radiofrequency catheter ablation(RFCA) and drug control by ultrasound Doppler and noninvasive hemodynamic detection technique.Methods Forty-eight patients with idiopathic frequent PVC were selected as the test group with a total of(16 391.03±10 873.01)beats per day.Another 55 healthy subjects were selected as the control group.Heart ultrasound Doppler and noninvasive hemodynamic detection technique were used in the two groups.Twenty-five patients were selected from the PVC group to receive RFCA,while noninvasive hemodynamic detection technique was adopted 3 days after operation.Results by ultrasound Doppler and noninvasive hemodynamic detection technique were compared between the two groups before and after operation.Results There was no significant difference in left ventricular ejection fraction(LVEF),left ventricular end-diastolic dimension(LVEDD),left ventricular end-systolic dimension (LVESD),left atrial diameter(LA)and the ratios of the peak mitral flow velocity in early diastole (E) to the peak atrial kick velocity (A) between the two groups.HI,SI,CI and C in PVC group were significantly lower than those in control group(P<0.01),but WA,O,WA/C and O/C were significantly higher than those in control group(P<0.01).HI,SI,CI and C obviously increased 3 days after operation(P<0.01),but WA,O,WA/C and O/C significantly decreased (P<0.01).Conclusion The cardiac functio of idiopathic PVC patients in the early stage may have been damaged,and RECA can reverse or delay the damaged cardiac function due to frequent PVC.

The effects of premature atrial contractions on hemodynamics with coronary heart disease and hypertension without basic cardiovascular disease / 重庆医学

Objective To explore the effects of premature atrial contractions on hemodynamics combined with coronary heart disease and hypertension .Methods According to the advance rate ,62 patients with premature atrial contractions were invided into 3 groups : 40% group(n= 24) .All of the patients were performed imped‐ance cardiography .The hemodynamics indexes at different times were compared ,and the variation rates in hemodynamics of the three groups combined with basic diseases were analyzed .Results Stroke volume(SV) ,stroke index(SI) ,aortic compliance(AC) , stroke work(SW) ,stroke work index(SWI) ,and heather index(HI) were smallest when premature atrial contractions ,which were middle when the first sinus beats before premature atrial contractions ,and largest when the first sinus beats after premature atrial contractions(P 40% group(P 40% group(P< 0 .05) .Conclusion The advance rate is relatively large in patients with basic cardiovascular disease .Premature atrial contractions has certain effects on hemodynamics ,and the effects are positively correlated with advance rate .