Objective To analyze the predictive value of Doppler ultrasound parameters com-bined with serum mitofusin-2 and caveolin-1(Cav-1)levels in pregnant women with preeclampsia for fetal growth restriction.Methods A total of 167 pregnant women with preeclampsia were selected as the study subjects and divided into fetal growth restriction group(n=63)and non-fetal growth re-striction group(n=104).Enzyme-linked immunosorbent assay(ELISA)was used to measure the serum levels of mitofusin-2 and Cav-1 in both groups.Multivariate logistic regression analysis was em-ployed to screen for influencing factors of fetal growth restriction.The receiver operating characteristic(ROC)curve was utilized to evaluate the predictive value of Doppler ultrasound parameters combined with serum mitofusin-2 and Cav-1 levels for fetal growth restriction.Results The gestational age at delivery in the fetal growth restriction group was significantly shorter than that in the non-fetal growth restriction group(P＜0.05).The serum levels of mitofusin-2 and Cav-1 in the fetal growth restriction group were significantly lower than those in the non-fetal growth restriction group(P＜0.05).The Doppler ultrasound parameters[umbilical artery peak systolic velocity/umbilical artery end-diastolic velocity(S/D),resistance index(RI)and pulsatility index(PI)]in the fetal growth restriction group were significantly higher than those in the non-fetal growth restriction group(P＜0.05).Multivariate logistic regression analysis revealed that gestational age at delivery,as well as the levels of mitofusin-2 and Cav-1 were influencing factors for fetal growth restriction(P＜0.05).The area under the curve(AUC)for the combined prediction of fetal growth restriction using S/D,RI,PI,mitofusin-2 and Cav-1 was superior to that of each individual indicator.Conclusion The AUC for predicting fetal growth restriction using Doppler ultrasound parameters combined with serum mitofusin-2 and Cav-1 levels in pregnant women with preeclampsia is 0.960,providing a clinically operable tool for early risk stratification of fetal growth restriction.

OBJECTIVE: To investigate the clinical and genetic characteristics of a patient with STISS syndrome due to variant of PSMD12 gene. METHODS: Clinical data and result of genetic testing of a patient who was admitted to Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine on October 4, 2020 were analyzed, together with a review of relevant literature. RESULTS: The patient was found to harbor a heterozygous c.601C>T (p.Arg201*) nonsense variant of the PSMD12 gene, which was unreported previously. Clinically, the height of the patient has differed significantly from reported in the literature. An extremely rare case of STISS syndrome due to variant of the PSMD12 gene has been diagnosed. CONCLUSION Whether the severely short stature is part of the clinical spectrum for PSMD12 gene variants needs to be further explored, and the efficacy and safety of growth hormone therapy has yet to be determined.
Child ; Humans ; China ; Dwarfism ; Genetic Testing ; Heterozygote ; Syndrome

The clinical data of a case of diabetic ketoacidosis with FOXP3 mutation identified by genetic test were collected and summarized. The follow-up results and clinical characteristics of 18 months after hematopoietic stem cell transplantation were analyzed. The male patient was 3 years and 5 months old. At the age of 5 months, the patient was diagnosed as diabetic ketoacidosis due to mental malaise and vomiting, followed by severe diarrhea, repeated eczema, and nephrotic syndrome, which was confirmed as IPEX syndrome due to FOXP3 gene mutation by genetic test. In August 2018, hematopoietic stem cell transplantation was carried out in the Hematology Department of our hospital. During 18 months of follow-up, the patients′ autoimmune status was ameliorated, no new autoimmune diseases appeared, the blood glucose control was significantly improved, and the insulin dosage was significantly reduced.

OBJECTIVE: To explore the genetic basis for 7 patients with Alström syndrome. METHODS: DNA was extracted from peripheral blood samples of the patients and their parents. Whole exome sequencing was carried out for the patients. Suspected variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Genetic testing revealed 12 variants of the ALMS1 gene among the 7 patients, including 7 nonsense and 5 frameshift variants, which included c.5418delC (p.Tyr1807Thrfs*23), c.10549C>T (p.Gln3517*), c.9145dupC (p.Thr3049Asnfs*12), c.10819C>T (p.Arg3607*), c.5701_5704delGAGA (p.Glu1901Argfs*18), c.9154_9155delCT (p.Cys3053Serfs*9), c.9460delG (p.Val3154*), c.9379C>T (p.Gln3127*), c.12115C>T (p.Gln4039*), c.1468dupA (p.Thr490Asnfs*15), c.10825C>T (p.Arg3609*) and c.3902C>A (p.Ser1301*). Among these, c.9154_ 9155delCT, c.9460delG, c.9379C>T, and c.1468dupA were unreported previously. Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.9379C>T and c.12115C>T variants of the ALMS1 gene were predicted to be likely pathogenic (PVS1+PM2), whilst the other 10 variants were predicted to be pathogenic (PVS1+ PM2+ PP3+PP4). CONCLUSION ALMS1 variants probably underlay the Alström syndrome in the 7 patients, and genetic testing can provide a basis for the clinical diagnosis of this syndrome. The discovery of four novel variants has expanded the mutational spectrum of Alström syndrome.
Alstrom Syndrome/genetics* ; Cell Cycle Proteins/genetics* ; Humans ; Mutation ; Pedigree ; Whole Exome Sequencing

Objective:To explore the value of soluble growth stimulation expression gene 2 protein (soluble suppression of tumorigenicity 2; sST2) and N terminal B type brain natriuretic peptide (N-terminal probrainnatriuretic peptide, NT-proBNP) in evaluating the short-term prognosis of acute organophosphorus pesticide poisoning.Methods:select 228 patients with acute organophosphorus pesticide poisoning in our hospital from October 2017 to March 2020. According to the grade of poisoning degree, it was divided into 82 cases in mild and moderate group and 146 cases in severe group. hs-cTnI、CK-MB、sST2、NT-proBNP、APACHE Ⅱ score and cholinesterase activity were detected 4 h、12 h、24 h after admission. ROC curve was used to evaluate sST2 and NT-proBNP to predict the prognosis of AOPP.Results:4 hours after admission, there was no significant difference in the scores of hs-cTnI, APACHE Ⅱ, cholinesterase and CK-MB between the Severe Group and the mild and moderate Group ( P<0.05) . At 12 and 24 hours after admission, the scores of hs-cTnI, CK-MB and APACHE Ⅱ in severe group were higher than those in mild and moderate group, and the changes of Cholinesterase were more significant than those in 12 hours after Admission ( P<0.05) . 4 hours after admission, SST2 and NT-proBNP levels were significantly higher in severe group than those in mild and moderate Group ( P<0.05) . The level of SST2 and NT-proBNP in the severe group was significantly higher than that in the mild and moderate group 12 and 24 hours after Admission ( P<0.01) , and the level of SST2 and NT-proBNP was significantly higher than that in the mild group 12 hours after Admission ( P<0.05) . Correlation analysis showed that 24 hours after admission, sST2, NT-proBNP were positively correlated with APACHE-Ⅱ scores ( R=0.634, 0.723, P<0.01) . The area under sST2 combined with NT-proBNP was 0.891, higher than that under sST2 and NT-proBNP at 12 h after admission. The 24 h APACHE Ⅱ score after admission area under the curve was 0.838. Conclusion:sST2 and NT-proBNP combined detection can early predict the occurrence of recent complications in AOPP patients.

Objective:To explore the value of soluble growth stimulation expression gene 2 protein (soluble suppression of tumorigenicity 2; sST2) and N terminal B type brain natriuretic peptide (N-terminal probrainnatriuretic peptide, NT-proBNP) in evaluating the short-term prognosis of acute organophosphorus pesticide poisoning.Methods:select 228 patients with acute organophosphorus pesticide poisoning in our hospital from October 2017 to March 2020. According to the grade of poisoning degree, it was divided into 82 cases in mild and moderate group and 146 cases in severe group. hs-cTnI、CK-MB、sST2、NT-proBNP、APACHE Ⅱ score and cholinesterase activity were detected 4 h、12 h、24 h after admission. ROC curve was used to evaluate sST2 and NT-proBNP to predict the prognosis of AOPP.Results:4 hours after admission, there was no significant difference in the scores of hs-cTnI, APACHE Ⅱ, cholinesterase and CK-MB between the Severe Group and the mild and moderate Group ( P<0.05) . At 12 and 24 hours after admission, the scores of hs-cTnI, CK-MB and APACHE Ⅱ in severe group were higher than those in mild and moderate group, and the changes of Cholinesterase were more significant than those in 12 hours after Admission ( P<0.05) . 4 hours after admission, SST2 and NT-proBNP levels were significantly higher in severe group than those in mild and moderate Group ( P<0.05) . The level of SST2 and NT-proBNP in the severe group was significantly higher than that in the mild and moderate group 12 and 24 hours after Admission ( P<0.01) , and the level of SST2 and NT-proBNP was significantly higher than that in the mild group 12 hours after Admission ( P<0.05) . Correlation analysis showed that 24 hours after admission, sST2, NT-proBNP were positively correlated with APACHE-Ⅱ scores ( R=0.634, 0.723, P<0.01) . The area under sST2 combined with NT-proBNP was 0.891, higher than that under sST2 and NT-proBNP at 12 h after admission. The 24 h APACHE Ⅱ score after admission area under the curve was 0.838. Conclusion:sST2 and NT-proBNP combined detection can early predict the occurrence of recent complications in AOPP patients.

Objective:To investigate the clinical value of serum miR-208a in early differential diagnosis of acute coronary syndrome(ACS).Methods:One hundred ACS patients admitted to our department from January 2016 to January 2018 were randomly divided into the non-ST elevation myocardial infarction(NSTEMI)group(n=50)and the unstable angina(UA)group(n=50). Fifty healthy people during the same period were included as the control group(control). Serum levels of miR-208a, cardiac troponin-T(cTnT)and creatine kinase MB isoenzyme(CK-MB)were detected immediately, 4 h, 12 h and 24 h after admission and compared among the three groups of NSTEMI, UA and control.Receiver operating characteristic(ROC)curve was used to analyze the early diagnostic value of above serum indexes in NSTEMI and UA group, and the correlations of miR-208a level with cTnT and CK-MB were analyzed.Results:Serum miR-208a and cTnT levels had significant differences( P<0.05), while serum CK-MB level had no significant difference( P>0.05)among the NSTEMI and UA groups immediately after admission and the control group in the fasting state.There were significant differences in serum miR-208a, cTnT and CK-MB levels between NSTEMI group and UA group at different time points( P<0.05). After further multiple comparisons, the results showed that serum miR-208a and cTnT levels had statistical differences( P<0.05)and serum CK-MB level had no difference( P>0.05)between the NSTEMI group and the UA group immediately after admission.The above three biochemical indexes showed statistically significant differences between the NSTEMI group and the UA group at 4 h, 12 h and 24 h after admission( P<0.05). ROC curve analysis showed that miR-208a had a high diagnostic value in ACS(AUC>0.9, P=0.004), and the best diagnostic cut-off point was 9.278.The cTnT had a medium diagnostic value in ACS(0.70.05). Conclusions:Serum miR-208a has a higher value in early diagnosis of ACS than cTnT and CK-MB, and it has a better differentiation ability of NSTEMI than UA.

Objective:To investigate the value of high-sensitivity cardiac troponin I (hs-cTnI) and soluble suppression of tumorigenicity 2 (sST2) in predicting cardiac complications of severe acute organophosphorus pesticide poisoning (SAOPP) .Methods:All 274 SAOPP patients from September 2014 to February 2019 were selected. According to the results of hs-cTnI detection, the patients were divided into non-elevated troponin group (78 cases) and troponin elevation group (196 cases) at 1 hour after admission. 3 days after admission, there were 109 cases of complication and 165 cases of non-complication according to the presence or absence of cardiac complications. The changes of hs-cTnI, sST2, N-terminal B-type brain natriuretic peptide (NT proBNP) , acute physiology and chronic health (APACHE-Ⅱ) , cholinesterase activity, left ventricular ejection fraction (LVEF) , short axis shortening rate (FS) were observed and analyzed. The predictive value of hs-cTnI and sST2 were evaluated by receiver operating characteristic curve (ROC) analysis.Results:The sST2 level in patients with troponin elevation group was significantly higher than that in non-elevated troponin group ( P<0.05) . Compared with the non-complication and non-elevated troponin group, the patients with non-complication and troponin elevation group had elevated hs-cTnI, sST2 and decreased cholinesterase ( P<0.05) . Compared with other groups, the hs-cTnI, sST2, NT-proBNP, and APACHE-Ⅱ scores in the complication and troponin elevation group were significantly increased, and cholinesterase was significantly reduced ( P<0.05) . In the non-complication group, LVEF and FS were in the normal range, and there was no significant difference between the groups ( P>0.05) . Compared with other groups, the LVEF and FS of patients with elevated troponin in the complications group were significantly decreased ( P<0.05) . Correlation analysis showed that hs-cTnI and sST2 were positively correlated in patients with SAOPP complications ( r=0.725, P<0.01) . hs-cTnI, sST2 and APACHE-Ⅱ scores were positively correlated in the complications group ( r=0.846, 0.885, P<0.01) . ROC results showed that the areas under the curve for predicting SAOPP secondary heart damage of hs-cTnI (1 hour after admission) and sST2 (3 days after admission) were 0.945 and 0.833, respectively. Conclusion:hs-cTnI and sST2 may have important clinical value in the early diagnosis and prognosis evaluation of patients with SAOPP secondary cardiac damage.

Objective:To investigate the value of high-sensitivity cardiac troponin I (hs-cTnI) and soluble suppression of tumorigenicity 2 (sST2) in predicting cardiac complications of severe acute organophosphorus pesticide poisoning (SAOPP) .Methods:All 274 SAOPP patients from September 2014 to February 2019 were selected. According to the results of hs-cTnI detection, the patients were divided into non-elevated troponin group (78 cases) and troponin elevation group (196 cases) at 1 hour after admission. 3 days after admission, there were 109 cases of complication and 165 cases of non-complication according to the presence or absence of cardiac complications. The changes of hs-cTnI, sST2, N-terminal B-type brain natriuretic peptide (NT proBNP) , acute physiology and chronic health (APACHE-Ⅱ) , cholinesterase activity, left ventricular ejection fraction (LVEF) , short axis shortening rate (FS) were observed and analyzed. The predictive value of hs-cTnI and sST2 were evaluated by receiver operating characteristic curve (ROC) analysis.Results:The sST2 level in patients with troponin elevation group was significantly higher than that in non-elevated troponin group ( P<0.05) . Compared with the non-complication and non-elevated troponin group, the patients with non-complication and troponin elevation group had elevated hs-cTnI, sST2 and decreased cholinesterase ( P<0.05) . Compared with other groups, the hs-cTnI, sST2, NT-proBNP, and APACHE-Ⅱ scores in the complication and troponin elevation group were significantly increased, and cholinesterase was significantly reduced ( P<0.05) . In the non-complication group, LVEF and FS were in the normal range, and there was no significant difference between the groups ( P>0.05) . Compared with other groups, the LVEF and FS of patients with elevated troponin in the complications group were significantly decreased ( P<0.05) . Correlation analysis showed that hs-cTnI and sST2 were positively correlated in patients with SAOPP complications ( r=0.725, P<0.01) . hs-cTnI, sST2 and APACHE-Ⅱ scores were positively correlated in the complications group ( r=0.846, 0.885, P<0.01) . ROC results showed that the areas under the curve for predicting SAOPP secondary heart damage of hs-cTnI (1 hour after admission) and sST2 (3 days after admission) were 0.945 and 0.833, respectively. Conclusion:hs-cTnI and sST2 may have important clinical value in the early diagnosis and prognosis evaluation of patients with SAOPP secondary cardiac damage.

Objective To investigate the correlation between myeloperoxidase(MPO)levels and adverse cardiac events in patients undergoing coronary stent implantation.Methods A total of 76 patients undergoing coronary stent implantation from January 2015 to June 2016 in the cardiac surgery department of our hospital were enrolled in this study.Serum levels of MPO,high sensitivity C-reactive protein(hs-CRP),and interleukin 6 (IL-6)were detected by enzyme-linked immunosorbent assays(ELISA).After a one-year follow-up,the receiver operating characteristic(ROC)curve was used to determine the predictive value of the difference in MPO before and after the operation(△MPO)on the long-term prognosis of patients after coronary stent implantation.The correlations of △MPO with the traditional risk factors for coronary heart disease and adverse cardiac events were analyzed using multi factor Logistic regression analysis.Results Serum levels of MPO,hs-CRP and IL 6 increased in patients after coronary stent implantation,compared with those before treatment (P ＜ 0.05).The results of ROC curve analysis showed that the area under the curve(AUC)value of serum △MPO was 0.786,the 95 ％ confidence interval was 0.471～ 1.000 and the predictive value of serum △MPO for adverse cardiac events was significant(P ＜0.05).There was a significant correlation between △MPO and age,and the incidence of adverse cardiac events increased with increased △MPO levels.Logistic regression analysis showed that serum △MPO levels could preliminarily diagnose the cardiovascular risk after coronary stent implantation and independently predict the occurrence of adverse cardiac events.Conclusions MPO levels in peripheral blood are notably elevated in patients after coronary stent implantation when compared with pre-treatment levels.Serum △MPO levels can preliminarily diagnose adverse cardiac events after coronary stent implantation and can be used as a marker to predict adverse cardiac events.