Objective To investigate the effect of sterol regulating element binding protein (SREBP1c) and its ac-tive form (SREBP1cm) on human protein kinase R-like endoplasmic reticulum kinase (PERK).Methods Re-porter victors of PERK promoter and its truncations were constructed with pGL 3-basic and co-transfected with internal reference pRL-SV40 into cell and luciferase activity was detected .pcDNA3.1 ( -)-SREBP1c or pcDNA3.1 ( -)-SREBP1cm was co-transfected with PERK promoter transcriptional activity core regions and the detection of dual -lu-ciferase reporter gene was used to analyze the regulation of SREBP 1c/1cm on PERK promoter transcriptional activity . The expression level of PERK mRNA and protein were detected by RT-PCR and Western blot .Results PERK pro-moter and truncations were successfully constructed into pGL 3-basic, and PERK promoter core area of transcription-al activity had determined;Dual-luciferase report gene showed that SREBP 1c inhibited PERK promoter transcrip-tional activity and SREBP1cm promoted PERK promoter transcriptional activity .RT-PCR and Western blot showed that SREBP1c decreased PERK mRNA and protein expression , but SREBP1cm increased PERK mRNA and protein expression, which was consistent with the detection of dual-luciferase report gene .Conclusions SREBP1c and SREBP1cm have a opposite regulation effect on PERK promoter transcriptional activity and its expression .

OBJECTIVETo analyze a girl with moderate mental retardation and speech and language disorders with cytogenetics technique and next-generation sequencing (NGS).

METHODSG-banding chromosome analysis was used to ascertain the karyotype of the child and her parents, and NGS was used for determining the size and origin of the abnormal chromosome fragment. Mate-pair and PCR were used to determine its parental origin.

RESULTSThe karyotype of the child was determined to be 46,XX,add(1)(q44)dn, while her parents were both normal. NGS revealed that the child has harbored a partial trisomy of 6q24.3-q27, and the breakpoint was mapped to at 6q24.3q27. In addition, a 2.5 Mb microdeletion at 1q44 was found in the patient.

CONCLUSIONNo recognizable phenotype was associated with 1q44 deletion. The abnormal phenotypes presented by the child may be attributed to the 6q24.3-q27 triplication. Compared with conventional cytogenetic analysis, NGS has a much higher resolution and great accuracy.

Adult ; Child ; Chromosome Banding ; Chromosome Disorders ; genetics ; Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 6 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability ; genetics ; Male ; Monosomy ; genetics ; Trisomy ; genetics

Objective:To explore the assessment value of echocardiogram combined with serum high-sensitivity C-reactive protein(hs CRP)and N-terminal pro brain natriuretic peptide(NT proBNP)levels on cardiac function of patients with coronary heart failure.Methods:A total of 306 patients with coronary heart failure admitted to Beijing Daxing District People's Hospital from November 2021 to November 2022 were selected as the study group.Among of them,144 cases were grade Ⅱ,103 cases were grade Ⅲ and 59 cases were grade Ⅳ as the classification of New York Heart Association(NYHA)for cardiac function.A total of 108 healthy examinees who underwent physical examinations in our hospital during the same period were selected as the healthy control group.All examinees were classified as the NYHA for cardiac function,and left ventricular end diastolic volume(LVEDV),left ventricular end systolic volume(LVESV),left ventricular ejection fraction(LVEF),peak ejection rate(PER)and peak filling rate(PFR)of them were measured by echocardiogram.The NT proBNP and hs CRP levels of all examinees were measured.Receiver operating characteristic(ROC)curve was used to analyze the values of single LVEDV,LVESV,LVEF,PER,PFR,hs CRP and NT-proBNP,and the combination of them.Results:LVEDV(122.69±18.24)ml and LVESV(70.79±10.03)ml of the study group were significantly higher than(92.27±15.22)ml and(33.16±7.22)ml of the healthy control group,and the LVEF(42.26±5.13)％,PER(2.49±0.22)EDV/s and PFR(1.79±0.26)EDV/s of the study group were significantly lower than(69.34±5.27)％,(3.56±0.27)EDV/s,and(2.59±0.23)EDV/s of the healthy control group,with statistical significances(t=15.526,35.837,46.828,40.825,28.302,P<0.05),respectively.The levels of hs CRP and NT proBNP of the study group were significantly higher than those of the healthy control group,with statistical significance(t=88.000,29.099,P<0.05),respectively.The LVEDV and LVESV of grade Ⅱ/Ⅲ patients were significantly lower than those of grade Ⅳ patients,while LVEF,PER and PFR of grade Ⅱ/Ⅲ patients were significantly higher than those of grade Ⅳ patients,with statistically significant differences(t=53.391,92.658,32.140,240.474,116.921,P<0.05),respectively.The levels of hs CRP and NT proBNP of grade Ⅱ/Ⅲ patients were significantly lower than those in grade Ⅳ patients,with statistical significance(t=41.037,5.955,P<0.05),respectively.The results of ROC curve analysis showed that the sensitivities of single LVEDV,LVESV,LVEF,PER,PFR,hs CRP,NT proBNP and the combined examination of them were respectively 45.00％,50.00％,70.00％,70.00％,75.00％,70.00％and 90.00％,and the specificities of them were respectively 76.70％,57.00％,82.60％,44.20％,58.10％,52.30％and 96.50％.The area under curve(AUC)values of LVEDV,LVESV,LVEF,PER,PFR,hs CRP,NT proBNP and the combined examination of them were 0.592(95％CI:0.441-0.743),0.615(95％CI:0.468-0.761),0.766(95％CI:0.634-0.899),0.717(95％CI:0.575-0.860),0.674(95％CI:0.536-0.812),0.734(95％CI:0.592-0.876),0.581(95％CI:0.469-0.694)and 0.978(95％CI:0.947-1.000),respectively.Conclusion:The serum hs CRP,NT proBNP levels and function parameters of left heart in patients with coronary heart failure have occurred corresponding changes,and the above indicators have higher assessment value for the heart function of coronary heart failure,and the value of combined assessment is higher.