Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type / 中华医学遗传学杂志

OBJECTIVE@#To delineate the clinical and genetic features of a fetus with micrognathia, low-set ears, microtia, polyhydramnios and anechoic stomach by ultrasonography.@*METHODS@#Whole exome sequencing (WES) was carried out to detect genetic variant in the fetus, for which routine chromosomal karyotyping and chromosomal microarray analysis (CMA) yielded no positive finding. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#WES revealed that the fetus has carried a de novo nonsense c.2302C>T (p.Q768X) variant in exon 23 of the EFTUD2 gene, which was detected in neither parent. The variant was unreported previously and may lead to premature termination of the translation of EFTUD2 protein at the 768th amino acid. Bioinformatic analysis predicted the amino acid to be highly conserved and may alter the structure and function of the EFTUD2 protein.@*CONCLUSION@#The c.2302C>T variant of the EFTUD2 gene probably underlay the mandibulofacial dysostosis Guion-Almeida type in the fetus. Discovery of the novel variant has enriched variant spectrum of the EFTUD2 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.

Comparison of development of gastric insufflation related to different peak inspiratory pressures during facemask ventilation in pediatric patients: ultrasonographic measurement / 中华麻醉学杂志

Objective To compare the development of gastric insufflation related to different peak inspiratory pressures (PIPs) during facemask ventilation in the pediatric patients.Methods Ninety male pediatric patients,aged 2-4 yr,of American Society of Anesthesiologists physical status Ⅰ,scheduled for elective surgery under general anesthesia,were randomly divided into 5 groups (n =18 each) using a random number table:PIP 8 cmH2O group (group P8),PIP 10 cmH2O group (group P10),PIP 12 cm H2O group (groupP12),PIP 14cmH2O group (group P14) and PIP 16 cmH2O group (group P16).Anesthesia was induced with fentanil,propofol and rocuronium in sequence.After loss of eyelash reflex,positive pressure facemask ventilation was performed for a 120 s period in pressure-controlled mode.Gastric insufflation was detected by real-time ultrasonography of the antrum,and cross-sectional antral area was measured using ultrasonography before facemask ventilation and at 120 s of facemask ventilation.The pulse oximetry (SpO2),tidal volume (VT),end-tidal pressure of carbon dioxide (PETCO2) and end-tidal oxygen concentration (ETO2) were recorded at 30,60,90,and 120 s of facemask ventilation.The development of gastric insufflation and hypoventilation was recorded.Results Compared with group P8,the incidence of gastric insufflation was significantly increased in group P16 (P＜0.01),and no significant change was found in the incidence of gastric insufflation in the other groups (P＞0.05),the incidence of hypoventilation was significantly decreased,VT and ETO2 were increased,and PET CO2 was decreased in P12,P14 and P16 groups,and PETCO2 was significantly decreased at 120 s of facemask ventilation (P＜ 0.05 or 0.01),and no significant change was found in the other parameters in group P10 (P＞0.05).Compared with P12 and P14 groups,VT was significantly increased,PEHTCO2 was decreased at 120 s of facemask ventilation (P＜0.05),and no significant change was found in the incidence of hypoventilation and ETO2 in group P16 (P＞0.05).There was no significant difference between group P12 and group P14 in the incidence of hypoventilation,VT,PETCO2 and ETO2 (P＞0.05).The pediatric patients showed a certain CO2 accumulation [PETCO2 (40.6±4.0) mmHg] at 120 s of facemask ventilation in group P8,and the pediatric patients showed excessive ventilation [PETCO2 (23.6± 1.4) mmHg],and cross-sectional antral area was not measured using ultrasonography in three cases because of excessive gastric insufflation in group P16.Conclusion PIP at 12-14 mmHg in pressure-controlled ventilation mode can not only ensure adequate preoxygenation and but also avoid excessive gastric insufflation during facemask ventilation in the pediatric patients.