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 :< 20% group(n= 18) ,20% - 40% group(n= 20) and > 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< 0 .05) .The variation rates in hemodynamics were smallest in < 20% group ,which were middle in 20% - 40%group ,and largest in > 40% group(P< 0 .05) .The percentage of patients with basic heart diseases was lowest in < 20% group , which was middle in 20% - 40% group ,and highest in > 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 .

Objective:To report on a case of Kabuki syndrome (KS) due to a novel variant of KMT2D gene. Methods:A child diagnosed with KS at the Fujian Children′s Hospital on July 25, 2022 was selected as the study subject. Whole exome sequencing was carried out for the child and her parents. Candidate variant was validated by Sanger sequencing and bioinformatic analysis.Results:The child, a 4-month-old female, had presented with distinctive facial features, growth retardation, cardiac malformations, horseshoe kidney, hypothyroidism, and recurrent aspiration pneumonia. Whole exome sequencing revealed that she has harbored a heterozygous c. 6285dup (p.Lys2096Ter) variant of the KMT2D gene. Sanger sequencing confirmed that neither of her parents had carried the same variant. The variant was previously unreported, and may result in a truncated protein and loss of an enzymatic activity region. The corresponding site of the variant is highly conserved. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+ PS2+ PM2_Supporting). Conclusion:The c. 6285 dup variant of the KMT2D gene probably underlay the KS in this child.

Objective To investigate the effects of MCSO on physiological behavior and antioxidant index in D.melanogaster.Methods One-day-old wild type D.melanogaster was divided into control group,0.25％,0.5％,1％,2％and 4％dose groups,as well as male and female groups.The control group was exposed to the base medium,and each dose group was exposed to the MCSO medium added with 0.25％,0.5％,1％,2％and 4％concentrations,respectively.The optimal dosage concentration and time of administration were investigated by climbing experiment.Then the flies were divided into control group,model group and MCSO group.The model group was established by depriving the flies of sleep through repeated nocturnal light stimulation.Period of drug treatment,appetite test,negative geotaxis ability test,stress test,olfactory memory test,and sleep-wake rhythm detection were used to explore the effects of MCSO on their physiological behavior.The activities of super oxidase dismutase(SOD),catalase(CAT),and malondialdehyde(MDA)were detected by enzyme-linked immunosorbent assay.Results MCSO enhanced the locomotory ability of 30-day-old D.melanogaster(P＜0.01),increased the activity of SOD and CAT(P＜0.01),and decreased the concentration of MDA(P＜0.01).Improve olfactory memory of senile fruit flies.After sleep deprivation,the night sleep time of female Drosophila model group was reduced(P＜0.05),and that of male Drosophila model group was reduced(P＜0.01).After feeding MCSO,the night sleep time of female drosophila model group was extended(P＜0.05),and that of male drosophila model group was extended(P＜0.01).Conclusions MCSO had a certain antioxidant effect,prolonging the sleep time and improving the olfactory memory of sleep-deprived Drosophila.