Objective:To investigate the relationship between the level of prolyl 4-hydroxylase subunit alpha 2 (P4HA2) in peripheral blood and the adverse pregnancy outcome in patients with gestational diabetes mellitus (GDM).Methods:A retrospective collection of baseline data was conducted on 120 GDM patients who underwent regular prenatal check ups and deliveries in Wenzhou Central Hospital from March 2022 to March 2024, serving as the GDM group. Baseline data from 120 pregnant women with normal glucose tolerance (NGT) during the same period were collected as the NGT group. Baseline data of blood lipids, blood glucose, and peripheral blood P4HA2 between the two groups were compared, and Pearson correlation test was used to determine the correlation between P4HA2 and some clinical indicators. Statistical analysis was conducted on the pregnancy outcomes of GDM patients, divided into the adverse pregnancy group (32 cases) and the normal pregnancy group(88 cases). Baseline data on blood lipids, blood glucose, and peripheral blood P4HA2 were compared between the two groups. Univariate and multivariate Logistic regression analysis were used to screen for factors affecting adverse pregnancy outcomes in GDM patients. Receiver operating characteristic (ROC) curves were also plotted to analyze the predictive value of peripheral blood P4HA2 for adverse pregnancy outcomes in GDM patients.Results:Compared with the NGT group, the GDM group had higher levels of fasting glucose, 2-h glucose, 1-h glucose, glycosylated hemoglobin (HbA 1c), peripheral blood P4HA2, insulin resistance index, triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), and total cholesterol (TC): (6.26 ± 0.24) mmol/L vs. (4.33 ± 0.15) mmol/L, (9.69 ± 0.18) mmol/L vs. (7.41 ± 0.19) mmol/L, (11.01 ± 0.29) mmol/L vs. (7.10 ± 0.27) mmol/L, (8.54 ± 0.43)% vs. (5.05 ± 0.61)%, (39.03 ± 3.33) μg/L vs. (35.55 ± 3.05) μg/L, 2.50 ± 0.34 vs. 1.95 ± 0.33, (2.56 ± 0.49) mmol/L vs. (2.08 ± 0.37) mmol/L, (3.85 ± 0.25) mmol/L vs. (3.26 ± 0.30) mmol/L, (6.92 ± 0.43) mmol/L vs. (6.25 ± 0.43) mmol/L, and significantly lower levels of high-density lipoprotein cholesterol (HDL)-C: (1.70 ± 0.11) mmol/L vs. (1.87 ± 0.22) mmol/L, there were statistical differences ( P<0.05). Pearson correlation analysis showed that peripheral blood P4HA2 was positively correlated with fasting blood glucose, 2-h blood glucose, 1-h blood glucose, HbA 1c, insulin resistance index, TG, LDL-C, and TC ( r>0, P<0.05); peripheral blood P4HA2 was negatively correlated with HDL-C ( r<0, P<0.05). The fasting blood glucose, 2-h blood glucose, 1-h blood glucose, insulin resistance index, peripheral blood P4HA2, and TC in the adverse pregnancy group were significantly higher than those in the normal pregnancy group:(6.35 ± 0.22) mmol/L vs. (6.23 ± 0.24) mmol/L, (9.78 ± 0.25) mmol/L vs. (9.66 ± 0.14) mmol/L, (11.12 ± 0.33) mmol/L vs. (10.97 ± 0.26) mmol/L, 2.61 ± 0.22 vs. 2.36 ± 0.37, (41.20 ± 3.62) μg/L vs. (38.24 ± 2.85) μg/L, (7.12 ± 0.55) mmol/L vs. (6.84 ± 0.35) mmol/L, there were statistical differences ( P<0.05). Logistic regression analysis showed that fasting blood glucose, 1-h blood glucose, 2-h blood glucose, TC, insulin resistance index, and peripheral blood P4HA2 were related factors affecting pregnancy outcomes in GDM patients ( P<0.05). The ROC curve showed that peripheral blood P4HA2 had good predictive value for adverse pregnancy outcomes in GDM patients, with an area under the curve of 0.729. Conclusions:The high expression of P4HA2 in peripheral blood of GDM patients is closely related to adverse pregnancy, which can provide some reference for clinical prediction of pregnancy outcomes in patients.

Objective:To investigate the relationship between the level of prolyl 4-hydroxylase subunit alpha 2 (P4HA2) in peripheral blood and the adverse pregnancy outcome in patients with gestational diabetes mellitus (GDM).Methods:A retrospective collection of baseline data was conducted on 120 GDM patients who underwent regular prenatal check ups and deliveries in Wenzhou Central Hospital from March 2022 to March 2024, serving as the GDM group. Baseline data from 120 pregnant women with normal glucose tolerance (NGT) during the same period were collected as the NGT group. Baseline data of blood lipids, blood glucose, and peripheral blood P4HA2 between the two groups were compared, and Pearson correlation test was used to determine the correlation between P4HA2 and some clinical indicators. Statistical analysis was conducted on the pregnancy outcomes of GDM patients, divided into the adverse pregnancy group (32 cases) and the normal pregnancy group(88 cases). Baseline data on blood lipids, blood glucose, and peripheral blood P4HA2 were compared between the two groups. Univariate and multivariate Logistic regression analysis were used to screen for factors affecting adverse pregnancy outcomes in GDM patients. Receiver operating characteristic (ROC) curves were also plotted to analyze the predictive value of peripheral blood P4HA2 for adverse pregnancy outcomes in GDM patients.Results:Compared with the NGT group, the GDM group had higher levels of fasting glucose, 2-h glucose, 1-h glucose, glycosylated hemoglobin (HbA 1c), peripheral blood P4HA2, insulin resistance index, triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), and total cholesterol (TC): (6.26 ± 0.24) mmol/L vs. (4.33 ± 0.15) mmol/L, (9.69 ± 0.18) mmol/L vs. (7.41 ± 0.19) mmol/L, (11.01 ± 0.29) mmol/L vs. (7.10 ± 0.27) mmol/L, (8.54 ± 0.43)% vs. (5.05 ± 0.61)%, (39.03 ± 3.33) μg/L vs. (35.55 ± 3.05) μg/L, 2.50 ± 0.34 vs. 1.95 ± 0.33, (2.56 ± 0.49) mmol/L vs. (2.08 ± 0.37) mmol/L, (3.85 ± 0.25) mmol/L vs. (3.26 ± 0.30) mmol/L, (6.92 ± 0.43) mmol/L vs. (6.25 ± 0.43) mmol/L, and significantly lower levels of high-density lipoprotein cholesterol (HDL)-C: (1.70 ± 0.11) mmol/L vs. (1.87 ± 0.22) mmol/L, there were statistical differences ( P<0.05). Pearson correlation analysis showed that peripheral blood P4HA2 was positively correlated with fasting blood glucose, 2-h blood glucose, 1-h blood glucose, HbA 1c, insulin resistance index, TG, LDL-C, and TC ( r>0, P<0.05); peripheral blood P4HA2 was negatively correlated with HDL-C ( r<0, P<0.05). The fasting blood glucose, 2-h blood glucose, 1-h blood glucose, insulin resistance index, peripheral blood P4HA2, and TC in the adverse pregnancy group were significantly higher than those in the normal pregnancy group:(6.35 ± 0.22) mmol/L vs. (6.23 ± 0.24) mmol/L, (9.78 ± 0.25) mmol/L vs. (9.66 ± 0.14) mmol/L, (11.12 ± 0.33) mmol/L vs. (10.97 ± 0.26) mmol/L, 2.61 ± 0.22 vs. 2.36 ± 0.37, (41.20 ± 3.62) μg/L vs. (38.24 ± 2.85) μg/L, (7.12 ± 0.55) mmol/L vs. (6.84 ± 0.35) mmol/L, there were statistical differences ( P<0.05). Logistic regression analysis showed that fasting blood glucose, 1-h blood glucose, 2-h blood glucose, TC, insulin resistance index, and peripheral blood P4HA2 were related factors affecting pregnancy outcomes in GDM patients ( P<0.05). The ROC curve showed that peripheral blood P4HA2 had good predictive value for adverse pregnancy outcomes in GDM patients, with an area under the curve of 0.729. Conclusions:The high expression of P4HA2 in peripheral blood of GDM patients is closely related to adverse pregnancy, which can provide some reference for clinical prediction of pregnancy outcomes in patients.

Objective:To analyze the clinical features of children with refractory N-methyl-D-aspartate (NMDA) receptor antibody encephalitis treated with tocilizumab.Methods:Demographic and clinical manifeatations, immunotherapy and prognosis data of 9 children with refractory NMDA receptor antibody encephalitis who received tocilizumab in the Department of Pediatrics Neurology, XiangYa Hospital of Central South University from August 2021 to September 2023 were collected retrospectively. Prognosis was evaluated using the modified Rankin scale at initial diagnosis, at the initiation of tocilizumab treatment, and at the last follow-up. Treatment related complications, neuroimaging, and electroencephalography data were analyzed.Results:Among the 9 children, 6 were male and 3 were female, with an onset age of 4.2 (2.8, 8.7) years. At the onset of the disease, 9 children had a modified Rankin scale score of 5. When tocilizumab treatment was initiated, 7 children had a score of 5, and 2 children had a score of 4. The interval between the onset and initiation of tocilizumab treatment was 12 (5, 27) months, and the treatment frequency was 8 (5, 13) times. The follow-up time was 2.8 (1.5, 3.7) years. At the last follow-up, the symptoms of 9 children, including movement disorder, sleep disorder, consciousness disorder, silence and autonomic dysfunction, were improved to varying degrees, and none of them had seizures. At the last follow-up, 4 cases with a modified Rankin scale score of 0, 1 case with a score of 1, 2 cases with a score of 3, 1 case with a score of 4 and 1 case with a score of 5. The modified Rankin scale at the last follow-up was significantly different from that at the start of tocilizumab ( Z=-2.56, P=0.014). All children had no serious adverse reactions during the treatment. Conclusions:After treatment with tocilizumab, the symptoms in patients with refractory NMDA receptor antibody encephalitis, including movement disorder, sleep disorder, consciousness disorder, silence and autonomic dysfunction were improved, and none of them had seizures. The modified Rankin scale were improved, and the safety was good.

Objective To observe the changes of plasma gastrointestinal hormones in motion sickness sensitive and insensitive individuals before and after vertical oscillation stimulation,and to construct a susceptibility prediction model for motion sickness.Methods A total of 60 healthy male volunteers were enrolled to receive sinusoidal vertical oscillation stimulation for 45 min.The motion sickness susceptibility questionnaire(MSSQ)was filled out before the experiment.Immediately after motion,the severity of motion sickness was evaluated by Graybiel scale.The motion sickness sensitive(Graybiel score≥8 and MSSQ susceptibility index＞21,n=15)and insensitive(Graybiel score≤2 and MSSQ susceptibility index＜5,n=15)participants were screened.Plasma levels of glucagon-like peptide-1(GLP-1),cholecystokinin(CCK),leptin,ghrelin,neuropeptide Y(NPY)and orexin A(OXA)were detected by enzyme-linked immunosorbent assay before and after vertical oscillation stimulation.Logistic regression model was used to analyze the predictive effect of plasma gastrointestinal hormone levels on susceptibility to motion sickness,and a combined predictive model was established.Receiver operating characteristic(ROC)curve was used to analyze predictive value of the model.Results Ghrelin and CCK levels were significantly increased in the sensitive group after stimulation compared with those before stimulation(both P＜0.01),while NPY and leptin levels were significantly decreased(both P＜0.01).Similar results were also observed when compared with the insensitive group after stimulation.Multivariate logistic regression analysis showed that plasma ghrelin,CCK and NPY were independent predictors of susceptibility to motion sickness.The established susceptibility prediction model for motion sickness was logit(P)=-0.051 ×ghrelin+0.060× NPY-0.169 ×CCK+33.397.ROC curve analysis showed that area under curve(AUC)value of the prediction model was 0.988,the sensitivity and specificity were 100.0％and 93.3％,respectively,and the prediction effect was better than ghrelin,CCK and NPY alone(AUC=0.792,0.880,0.838).Conclusion The changes of peripheral gastrointestinal appetite regulating hormone levels may be related to the susceptibility to motion sickness.The combined use of these indicators can predict the susceptibility to motion sickness.

China prospective multicenter birth cohort (Prospective Omics Health Atlas birth cohort, POHA birth cohort) study was officially launched in 2022. This study, in collaboration with 12 participating units, aims to establish a high-quality, multidimensional cohort comprising 20 000 naturally conceived families and assisted reproductive families. The study involves long-term follow-up of parents and offspring, with corresponding biological samples collected at key time points. Through multi-omics testing and analysis, the study aims to conduct multi-omics big data research across the entire maternal and infant life cycle. The goal is to identify new biomarkers for maternal and infant diseases and provide scientific evidence for risk prediction related to maternal diseases and neonatal health.

Objective:To investigate the susceptibility and incidence of seasickness in navy pilots who had been deployed on ships and its influence on their onboard life and flight operation capability，so as to provide reference for ensuring the flight safety of navy pilots.Methods:A total of 41 navy pilots were surveyed by a questionnaire on body mass index（BMI），results of fitness test，smoking history，seasickness sensitivity of parents，personal seasickness susceptibility index，symptoms and severity of seasickness，and how and to what extent the seasickness had affected their living and training.Results:（1）During the navigations，the incidence of seasickness was 61.90%-71.79%，and 71.43%-87.18% of the pilots felt it had affected their life and flight operation capability. The severity of seasickness was significantly correlated with the severity of its influence on flight operation capability（ P<0.01）；（2）Seasickness affected not only pilots’ onboard life，such as appetite，fitness，attention，sleep，and onboard activity（20.00%-86.67%），but also their flight operation capability（14.71%-26.67%）；（3）The incidence of seasickness was significantly correlated with personal seasickness susceptibility index（ P<0.05），but it had no correlation with BMI，fitness，smoking history，or seasickness sensitivity of parents（ P>0.05）. Conclusion:There is close correlation between pilots’ seasickness severity and their flight operation capability. Therefore，pilots should be screened and trained before undertaking onboard missions.

Objective:To investigate the susceptibility and incidence of seasickness in navy pilots who had been deployed on ships and its influence on their onboard life and flight operation capability，so as to provide reference for ensuring the flight safety of navy pilots.Methods:A total of 41 navy pilots were surveyed by a questionnaire on body mass index（BMI），results of fitness test，smoking history，seasickness sensitivity of parents，personal seasickness susceptibility index，symptoms and severity of seasickness，and how and to what extent the seasickness had affected their living and training.Results:（1）During the navigations，the incidence of seasickness was 61.90%-71.79%，and 71.43%-87.18% of the pilots felt it had affected their life and flight operation capability. The severity of seasickness was significantly correlated with the severity of its influence on flight operation capability（ P<0.01）；（2）Seasickness affected not only pilots’ onboard life，such as appetite，fitness，attention，sleep，and onboard activity（20.00%-86.67%），but also their flight operation capability（14.71%-26.67%）；（3）The incidence of seasickness was significantly correlated with personal seasickness susceptibility index（ P<0.05），but it had no correlation with BMI，fitness，smoking history，or seasickness sensitivity of parents（ P>0.05）. Conclusion:There is close correlation between pilots’ seasickness severity and their flight operation capability. Therefore，pilots should be screened and trained before undertaking onboard missions.

Objective:To investigate the clinical, imaging and genetic features of patients with global developmental delay combined with epilepsy and striatal degeneration caused by POLR3A gene mutations.Methods:A total of three patients from two families with non-consanguineous marriages admitted to the Department of Pediatric Neurology of Xiangya Hospital of Central South University in 2020 were examined in detail. Peripheral blood DNA was extracted, and whole-exome sequencing was performed on the patients, combined with Sanger sequencing for verification. The mutation and protein function predictor softwares were applied to analyze the mutation sites.Results:All three patients presented with global developmental delay, seizures, dystonia. Head magnetic resonance imaging of all patients suggested basal ganglia atrophy and striatal degeneration. All had compound heterozygous mutations of c.1980 G>C; c.1771-6 C>G and c.2044C>T; c.1771-7 C>G in POLR3A gene as indicated by whole-exome sequencing. Sanger sequencing validation confirmed that the compound heterozygous mutations were originated from the parents of probands from the two families, respectively. Bioinformatic analysis suggested pathogenic features of the mutations.Conclusions:Compound heterozygous mutations in POLR3A gene , including a splice site mutation result in global developmental delay combined with epilepsy, striatal degeneration. Clinicians should promote the awareness of POLR3 related spectrum disorders, thus make early recognition and diagnosis.

OBJECTIVE: To determine the frequencies of deafness gene mutations among patients with non-syndromic hearing loss (NSHL) from northern Jiangsu province. METHODS: A total of 117 patients with NSHL were enrolled. The coding region of GJB2 gene, IVS7-2A>G and 2168A>G mutations of SLC26A4 gene, and 1555A>G and 1494C>T mutations of mitochondrial DNA 12S rRNA were subjected to Sanger sequencing. Patients in whom no mutation was detected were further tested by targeted gene capture and high-throughput sequencing. RESULTS: Among the 117 patients, 86 (73.50%) were found to carry mutations. GJB2 gene mutations were found in 61 patients (52.14%), including 22 (18.80%) with homozygous mutations and 39 (33.33%) with heterozygous mutations. SLC26A4 gene mutations were found in 19 patients (16.24%), including 4 (3.42%) with homozygous mutations and 15 with heterozygous mutations (14.53%). Mitochondrial 12S rRNA gene mutation was found in 6 patients (5.13%). Targeted gene capture and high-throughput sequencing of 8 patients identified 4 further cases, including 1 with RDX gene 129_130del and 76_79del compound heterozygous mutations, 1 with OTOF gene 1274G>C homozygous mutation, 1 with SLC26A4 gene 919-2A>G and IVS16-6G>A compound heterozygous mutation, and 1 with SLC26A4 gene 919-2A>G and A1673T compound heterozygous mutation. CONCLUSION The frequency of mutation among patients with NSHL from north Jiangsu was 73.50%, and GJB2 gene was most commonly mutated.
China ; Connexins ; DNA Mutational Analysis ; DNA, Mitochondrial ; Hearing Loss ; genetics ; Humans ; Membrane Proteins ; Mutation ; Sulfate Transporters

Objective To explore the effect of dexmedetomidine on blood coagulation following radical gastrectomy.Methods ASA Ⅰ or Ⅱ patients aged 51-70 years weighing 53-75 kg scheduled for radical gastrectomy were randomly allocated to two groups:dexmedetomidine group (group D)and control group (group C).Dexmedetomidine 0.5 μg/kg was intravenously infused over 10 minutes before anesthesia induction,followed by a rate of 0.5 μg·kg-1 ·h-1 until peritoneal closure in group D and volume-matched normal saline was administrated in group C.Radical gastrectomy was performed under total intravenous anesthesia with propofol and remffentanil.A series of warming measures were implemented and artificial colloid and heparin flushing fluid were not used.Postoperative patient-controlled intravenous analgesia was performed to maintain visual analogue scale≤3.The blood samples were collected for TEG and standard coagulation monitoring before dexmedetomidine and saline administration and 3 h after surgery.Results The temperature and hematocrit in the postoperative period were significantly less than the preoperative period in two groups (P＜0.01).In both groups,the activity of plasma antithrombin Ⅲ was significantly decreased and the concentration of plasma FDP was significantly increased in the postoperative period when compared with the preoperative period (P ＜0.01).In group D,the R time was significantly shortened and MA value was significantly increased in the postoperative period when compared with the preoperative period (P＜0.05) and there were no significant differences in the K time and α angle between the preoperative and postoperative period.In group C,the R and K time were significantly shortened and the value for MA and α angle were significantly increased in the postoperative period compared with the preoperative period (P＜0.01).The platelet counts,PT,APTT,and plasma fibrinogen concentration were comparable between the preoperative and postoperative period in both groups.The requirements of propofol and remifentanil in group D were significantly less than group C (P＜0.05).In the preoperative period,the plasma antithrombin Ⅲ activity,FDP concentration,and the values for all TEG variables were similar in both groups.In the postoperative period,the value for MA and the concentration of plasma FDP in group D were less than that in group C and the value for R and the activity of plasma AT Ⅲ in group D were more than group C (P＜0.05 or P＜0.01) and there were no significant differences in the K time and α angle in both groups.There were no significant differences in the temperature,hematocrit,platelet counts,PT,APTT,and plasma fibrinogen concentration in the preoperative and postoperative periods between the two study groups.Conclusion Adjunctive dexmedetomidine in general anesthesia could inhibit the decrease of R time and raise of the value for MA,inhibit the decrease of plasma an tithrombin Ⅲ activity and raise of FDP concentration,which indicated that dexmedetomidine can improve blood coagulation state after radical gastrectomy.