Objective:To study the phenotypes and genotypes of neonatal nonketotic hyperglycinemia (NKH).Methods:A neonate with severe NKH admitted to our hospital was retrospectively analyzed. Using keywords 'glycine cleavage enzyme', 'glycine decarboxylase', 'nonketotic hyperglycinemia' and 'glycine encephalopathy' (both in Chinese and English), multiple medical databases were searched until December 31, 2022. The clinical phenotypes and genotypes of neonatal NKH were summarized.Results:For our case, the neonate was lethargy and had no appetite on the second day of life, followed by recurrent seizures and irregular breathing, requiring mechanical ventilation. She died at 3 weeks of age. Two compound heterozygous variants were found in GLDC gene from whole exome sequencing , one was c.848C>G(p.A283G) of maternal origin and one was c.1607G>A(p.R536Q) of paternal origin. The former was a novel mutation. A total of 54 cases (including this case) were collected. The main clinical manifestations included poor feeding, decreased muscle tone, hiccups, progressive lethargy, irregular breathing, apnea and neonatal seizures. 42 cases (77.8%) had GLDC gene mutations, 9 cases (16.7%) had AMT gene mutations, 2 cases (3.7%) had LIAS gene mutations and 1 case (1.9%) had GCSH gene mutations. Conclusions:Neurological manifestations are most common in neonatal NKH with wide clinical variations. GLDC gene mutations are the predominant pathogenic mutations.

Objective:To analyze the relationship between preoperative deep vein thrombosis (DVT) and parameters of conventional coagulation tests (CCTs) and thromboelastography (TEG) in patients with acute trauma, and to establish a prediction model to screen out high-risk patients with preoperative DVT.Methods:The clinical data of patients with acute traumatic fracture admitted to the Emergency Intensive Care Unit of Shanghai Sixth People’s Hospital from January 2021 to June 2021 were retrospectively collected. According to whether preoperative DVT occurred, the patients were divided into the DVT group and non-DVT group. The differences of CCTs and TEG parameters at the same time were compared between the two groups. Logistic regression analysis was applied to identify independent risk factors for DVT after trauma. The receiver-operating characteristic curve analysis was employed to analyze the clinical value of those parameters to predict preoperative DVT.Results:Among 123 patients with acute traumatic fracture, 101 patients were treated with anticoagulation before operation, and 51 patients were diagnosed with DVT. There were significant differences in activated partial thromboplastin time, fibrinogen (Fib), D-Dimer, fibrinogen degradation products (FDPs), reaction time, clotting time, α angle, maximum amplitude (MA) and coagulation index between the DVT and non-DVT groups. D-Dimer and MA were independent risk factors for preoperative DVT in patients with traumatic fracture. Logistic regression equation was used to establish a prediction model: the predicting index = 0.101×D-Dimer +0.241×MA + (-18.190). The α angle (AUC=0.833, P<0.001), MA (AUC=0.904, P<0.001), coagulation index (AUC=0.914, P<0.001) of TEG versus Fib (AUC=0.684, P=0.001), D-Dimer (AUC=0.685, P<0.001) and FDPs (AUC=0.656, P=0.003) of CCTs had a higher diagnostic efficacy in developing DVT of lower extremity in patients with traumatic fracture, and of all the coagulation index was the best. However, the predictor of D-Dimer combined with MA had a better predictive value (AUC=0.926, P<0.001), and the best cut-off value was 0.32 with a sensitivity and specificity of 90.2% and 79.8%, respectively. Conclusions:Compared with CCTs, TEG has more advantages in predicting preoperative DVT in patients with traumatic fracture, and the predictor of D-Dimer combined with MA can screen out patients with high risk of DVT, which can be recommended for clinical application.

Objective:To explore the value of stress hyperglycemia ratio (SHR) in predicting the prognosis of patients with acute heart failure (AHF).Methods:AHF patients admitted to the Emergency Department of Shanghai Jiao Tong University Affiliated Sixth People's Hospital from December 2016 to January 2019 were retrospectively included. Clinical data were recorded and SHR was calculated. According to the survival of the patients within 1 year, they were divided into the death group ( n=89) and the survival group ( n=218). Logistic regression analysis was used to analyze the risk factors of mortality. Kaplan-Meier analysis was used to evaluate the correlation between SHR and the prognosis of AHF patients. Results:A total of 307 patients aged 83 ( range 74-87) years old who met the inclusion criteria were included in this study, including 153 males and 104 females. The age, SHR and N-terminal prohormone of brain natriuretic peptide (NT-proBNP) in the death group were higher than those in the survival group [84 (78, 88) vs 82 (72, 86), 1.11 (0.91, 1.51) vs 1.02 (0.86, 1.27), 5 351 (2 098, 14 039)μg/L vs 4 243 (2 294, 7 565)μg/L ]. The left ventricular ejection fraction (LVEF) in the death group was significantly lower than that of the survival group [53 (45, 57) % vs 58 (44, 64) %, P< 0.05]. Logistic regression analysis showed that SHR was an independent risk factor for death in AHF patients ( OR=2.397, 95% CI: 1.285-4.471, P< 0.05). Median SHR was used to draw the survival curve. Patients with high SHR had a lower cumulative survival rate, and the difference was statistically significant ( P<0.05). Conclusion:SHR can identify critically ill patients and is an independent risk factor for death in AHF patients.

Objective To investigate the relationships between serum osteocalcin (OC) levels and glycometabolism markers in nondiabetic post-traumatic male patients.Methods Populaitons were selected at the Department of Emergency Medicine of Shanghai Jiao Tong University Affiliated Sixth People's Hospital from October 2017 to February 2019.The age,injury severity score (ISS),and characteristic indicators were recorded.The inclusion criteria were age ≥ 18 years and blood collection time ＜ 24 h after the injury.The exclusion criteria were emergency surgery,acute brain trauma,and hemoglobin A1c (HbA1c) ≥ 6.0％.The patients were divided into two groups by fasting plasma glucose (FPG):stress hyperglycemia (SH) (FPG＞7.8 mmol/L) and nonstress hyperglycemia (NO-SH) (FPG ≤ 7.8 mmol/L) groups.The fasting venous blood samples were collected and examined.The characteristics and biochemical indicators in the two groups were compared statistically by LSD-t test,rank sum test and ANOVA,and the relationships between serum OC levels and glycometabolism markers were analyzed by partial correlation analysis.Results A total of 395 traumatic patients were enrolled and divided into the SH group (n=182) and NO-SH group (n=213).There were no differences in ISS,fasting insulin (FINS),and C-peptide (C-P) levels between groups.Age,HbAlc and FPG were higher (P=0.041,P=0.037,P＜0.01),while the OC level was lower (P=0.023),in the SH group than those in the NO-SH group.The serum OC level did not correlate with HbAlc,FPG,and FINS,but negatively correlated with C-P by partial correlation analysis (r=-0.262,P=0.008).The multivariate linear regression analysis showed that C-P was an independent factor affecting serum OC levels after trauma (β=-0.655,P=0.043).Conclusion A correlation existed between the serum OC level and glycometabolism markers in nondiabetic post-traumatic male patients.

Subarachnoid hemorrhage (SAH) is a devastating cerebrovascular event that often is followed by permanent brain impairments. It is necessary to explore the pathogenesis of secondary pathological damages in order to find effective interventions for improving the prognosis of SAH. Blockage of brain lymphatic drainage has been shown to worsen cerebral ischemia and edema after acute SAH. However, whether or not there is persistent dysfunction of cerebral lymphatic drainage following SAH remains unclear. In this study, autologous blood was injected into the cisterna magna of mice to establish SAH model. One week after surgery, SAH mice showed decreases in fluorescent tracer drainage to the deep cervical lymph nodes (dcLNs) and influx into the brain parenchyma after injection into the cisterna magna. Moreover, SAH impaired polarization of astrocyte aquaporin-4 (AQP4) that is a functional marker of glymphatic clearance and resulted in accumulations of Tau proteins as well as CD3⁺, CD4⁺, and CD8⁺ cells in the brain. In addition, pathological changes, including microvascular spasm, activation of glial cells, neuroinflammation, and neuronal apoptosis were observed in the hippocampus of SAH mice. Present results demonstrate persistent malfunction of glymphatic and meningeal lymphatic drainage and related neuropathological damages after SAH. Targeting improvement of brain lymphatic clearance potentially serves as a new strategy for the treatment of SAH.
Animals ; Apoptosis ; Aquaporin 4 ; Astrocytes ; Brain ; Brain Ischemia ; Cisterna Magna ; Drainage ; Edema ; Hippocampus ; Lymph Nodes ; Mice ; Neuroglia ; Neurons ; Prognosis ; Spasm ; Subarachnoid Hemorrhage ; tau Proteins

Objective: To investigate the effect of hypertensive disorder complicating pregnancy (HDCP) on the mortality and early complications of premature infants. Methods: The general clinical data of preterm infants with gestational age 24-36^{+ 6} weeks were collected from the cooperative units in the task group from January 1, 2013 to December 31, 2014.According to the severity of HDCP, the infants were divided into 4 groups: HDCP group, preeclampsia group, eclampsia group and non HDCP group, the mortality and major complications of preterm infants were compared, and the influencing factors were analyzed. Results: The mortality rate of preterm in the HDCP group was significantly higher than that of non HDCP group, and there was statistical significance (χ²=9.970, P=0.019). Eclampsia had a highest fatality rate (4.8%) in the early stage, compared with non HDCP group (2.2%), and the difference was statistically significant.Comparison of HDCP group (1.8%) and eclampsia group (3.2%) suggested that there was no statistically significant difference.The incidence of respiratory distress syndrome (RDS) in preterm in HDCP group was significantly higher than that of non HDCP group, and there was statistical significance (χ²=13.241, P=0.004). Eclampsia group showed the highest incidence (35.4%), compared with non HDCP group (16.2%), the difference was statistically significant, but compared with HDCP group (19.9%), preeclampsia group (17.1%), there was no significant diffe-rence.The incidence of bronchopulmonary dysplasia (BPD) in preterm in HDCP group was significantly higher than that of non HDCP group (χ²=9.592, P=0.022), the highest incidence showed up in eclampsia group (9.7%), compared with non HDCP group (2.0%) and HDCP group (1.7%), the difference was statistically significant.But there was no statistically significant difference, compared with preeclampsia group.As the degree of HDCP aggravated, the incidence of BPD gradually rose.There was no significant impact on necrotizing enterocolitis (NEC), retinopathy of prematurity (ROP), intraventricular hemorrhage (IVH) and sepsis of HDCP (χ²=7.054, 7.214, 0.358, 3.852; P=0.070, 0.065, 0.949, 0.278). Considering the overall outcome of the child, that was, whether the child died or survived, he had at least one complication, and HDCP had an effect on it (χ²=15.697, P=0.001), so the incidence increased while the degree of HDCP rose gradually.After adjusting gestational age, birth weight, sex, way of delivery, placental abruption and front placenta, prenatal hormonal, gestational diabetes, neonatal asphyxia and other factors, the results displayed that HDCP was the factor leading to the death of premature baby (OR=2.159, 95%CI: 1.093-4.266), and comparison between preeclampsia and eclampsia showed no statistical difference (P=0.714, 0.389); HDCP had no significant influence on RDS, BDP, ICH, NEC, ROP and sepsis. Conclusions HDCP leads to increased risk of premature death, but also leads to the increased incidence of RDS and BPD, but it had no obvious effect on NEC, ROP, IVH, sepsis and other complications.

Objective To investigate the relationships between serum osteocalcin levels of fasting plasma glucose(FPG),fasting serum insulin(FINS),insulin resistance,β-cell function as well as lipid metabolism in male traumatic patients.Methods A prospective cohort study was carried out in the Emergency Room of Shanghai Sixth People's Hospital from April to October of 2015.The male adult traumatic patients without traumatic brain injury,shock and the medical history such as the fractures,diabetes were enrolled as trauma group,and then patients' age,body mass index(BMI),injury severity score(ISS), admission time after trauma and fluid resuscitation volume before testing(FRVT) were recorded.A total of 80 heathly male adult subjects were enrolled from the physical examination center as control group with matched age and BMI.Comparison of biochemical characteristics were carried out between two groups, and relationships between serum osteocalcin levels and glycolipid metabolism in trauma group were analyzed.Insulin resistance and β-cell function were calculated by Homeostasis model assessment-insulin resistance(HOMA-IR)and Homeostasis model assessment of β-cell function(HOMA-β).Results A total of 102 male adult traumatic patients mostly subjected to traffic accident (56.9%) with FRVT (208.78±98.68)mL and ISS(9.30±3.67)were enrolled in trauma group.Serum OC levels,HOMA-β,total cholesterol(TC),high density lipoprotein(HDL-c)and low density lipoprotein(LDL-c) were lower,but FPG,FINS,C-peptide(C-P),HOMA-IR were higher compared with control group(P<0.05).Serum OC levels wer were negatively correlated with FPG and TC(P<0.05),and positively correlated with FINS,HOMA-IR,and HOMA-β(P<0.05),but there were no correlation of OC with FRVT and ISS.By multiple linear regression analysis after adjusting for age,BMI,FRVT and ISS,serum osteocalcin levels were significantly related to TC in traumatic patients (β=-0.812,P=0.024).Conclusion The glycolipid metabolism may be impacted by the serum level of osteocalcin after trauma.

Objective Objective To evaluate the effects and safety of total glucosides of paeony (TGP) in the treatment of patients with Sjogren syndrome.Methods The Cochrane Library,PubMed,EMBASE,CBM,VIP,CNKI,Wanfang databases were searched from their establishments up to September 30,2015.We used the method recommended by the Cochrane collaboration to perform a meta-analysis of randomized controlled trails (RCTs) of total glucosides of peony in the treatment of patients with Sjogren syndrome.Two reviewers analyzed these data independently.The Cochrane Collaboration's software RevMan 5.3 was used for meta-analysis.Results A total of 573 patients in 10 studies were finally included,and were divided into different subgroups.The results of subgroup-analysis showed that:①Schimer test:TGP group had a higher effective rate than the blank control group [MD=2.41,95%CI (0.08,4.74)],lower effective rate than Chinese herbal medicine [MD=-2.55,95%CI (-3.88,-1.22);②Salivary flow:TGP group had a lower effective rate than the control group [SMD=-0.87,95%CI (-1.20,-0.54)].③Rheumatic factors (RF):TGP group had a higher effective rate than Chinese herbal medicine [SMD=0.44,95%CI (0.06,0.82)] and Chinese patent drug [SMD=0.74,95%CI (0.36,1.12)],lower effective rate than the blank control group [SMD=2.23,95%CI (-2.79,-1.67);④ C-reactive protein (CRP):TGP group had a higher effective rate than the control group [MD=4.51,95%CI (1.75,7.26)];⑤IgG:TGP group had a higher effective rate than Chinese patent drug group [MD=2.73,95%CI (1.63,3.84)],lower effective rate than the blank control group [MD=-3.90,95%CI (-5.67,-2.13),but no statistical difference was noted when compared with Chinese herbal medicine and Western medicine groups;⑥ESR:TGP group had a higher effective rate than Chinese herbal medicine group [MD=12.73,95%CI (3.62,21.84)] and Chinese patent drug group [MD=7.82,95%CI (5.39,10.24)],lower effective rate than the blank control group [MD=-7.13,95%CI (-12.70,-1.56) and Western medicine group [MD=-12.19,95%CI (-24.19,-0.19)];⑦Safety:8 studies reported adverse effects in 41 patients.TGP group had a higher adverse reaction rate than the control group [OR=3.23,95%CI (1.60,6.50)].Conclusion Current evidence demonstrates that TGP can effectively improve CRP,but its effects on Salivary flow,Schimer test,IgG,ESR,RF were not significant.However,the heterogeneity and high risk of bias in the reports involved in this study limits the reliability of this conclusion.

Objective To obtain highly purified astrocytes and identify the cells in each stage to support further studies.Methods The cerebral cortex of a neonatal SD rat was isolated and prepared into single cell suspension.The obtained cells were purified by differential adherence and shook at a constant temperature.By inverted phase contrast microscopy and HE staining,cell morphology was observed.The immunofluorescence staining with anti-mouse GFAP was used to identify the cells.Results The primary cortical cells developed rapidly at 3 d after culture and covered the flasks at 9-12 d.At this time,the cells showed stratification and the astrocytes lay at the lower layer.GFAP positive rate was only about (67.2 ±7.1)%.After the first passage,GFAP positive rate increased obviously (84.0±6.0)%. However, oligodendrocytes and microglias could not be removed completely,and the cells also showed stratification.Through 3 times of passages,we obtained many single species of astrocytes showing satellite shape with 2 or 3 processes,big cell body and round or oval-shaped nuclei leaned to one side.Immunofluorescence staining showed that nearly all of the cells were strong positive and the positive rate reached as high as (97.6 ± 2.4 )%.Conclusion Through differential adherence and shaking at a constant temperature,more astrocytes of high purity and in good state can be obtained.

Objective To investigate the incidence and risk factors of deep vein thrombosis (DVT) in a cohort of Chinese patients with traumatic spinal cord injury (TSCI),and in addition,to evaluate the effect of injury types and concomitant injuries of other parts of body.Method Records of 143 casualties admitted to our institute for TSCI were analyzed retrospectively.Both lower extremities of all casualties were examined routinely with color Doppler ultrasonography (CDUS) before major surgical treatment.None of these casualties received any thromboprophylaxis before CDUS.Logistic regression was used to analyze risk factors of DVT.Results Of the 143 patients,32.2％ (n =46) suffered from DVT (proximal n =15,distal n =31).All casualties were diagnosed within one week after injury (mean 3.35 ± 1.65 days).Risk factors associated with DVT induced complete motor paralysis (odds ratio [OR] 5.05,95％ CI 1.70-14.90),concomitant fracture of lower extremities (OR 4.30,95％ CI 1.34-17.64),and lumbar vertebra injury (OR 4.29.95％ CI 1.50-10.83).Conclusions Clinically detectable DVT in TSCI are not uncommon in the Chinese population.Casualties with multiple risk factors may be benefited from early administration of thromboprophylaxis.