Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature.

OBJECTIVE: We aimed to identify the genetic cause of one hydrops fetalis with Noonan syndrome (NS) manifestations including increased nuchal translucency (INT) and ascites through prenatal whole exome sequencing (WES). CASE REPORT: The case is a gestational age (GA) 18 fetus of two healthy parents with a normal child. We proceeded the genomic DNA from both fetus amniotic cells and parents to WES and identified a RIT1 mutation (c.268A>G) as the pathogenic cause of the hydrops fetalis by automatic prioritization algorithm after array-comparative genomic hybridization results showing negative. CONCLUSION: Mutations in RIT1 have been reported as the causes for different fetus structural abnormities in the recent years. This case contributes to the summary delineations of the prenatal NS phenotypes related to RIT1 mutation. In addition, the fast WES application, in this case, has demonstrated its advantage in prenatal disorder diagnosis when conventional karyotyping or chromosomal microarray testing result is negative.

Safety study on infusion of PICC intraconazole injection / 中国实用护理杂志

Objective To study the safety of transfusion of itraconazole through PICC and to evaluate the effect of different amount of blood transfusion before and after the infusion. Methods Patients were recruited from January 1, 2014, until December 31, 2015, in the Hematology hematopoietic stem cell transplantation ward. Thiry-two patients were recruited in the control group. Ninety patients wererecruited in the experience group. They were randomly assigned to three groups with 30 cases each, extracting different amounts of itraconazole before infusion, back phlebotomize in group A, B, C respectively was 10.0, 0.5, 1.0 ml. Comparing the phlebitis and obstruction after ten days from the transfusion day on. Results Catheter obstruction was not observed in any case. There was a significant difference between control group (21.9%,7/32) and observation group (0) regarding the incidence of phlebitis (χ2=21.157,P 0.05). Conclusions Drawing a small amount of blood volume before itraconazole injection through PICC can effectively avoid the drug-induced catheterobstruction. What′s more, transfusion through PICC can significantly reduce the incidence of phlebitis compared with peripheral infusion.