Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Objective:To understand the effect of vitamin B1 on lymphocyte function in simulated microgravity.Methods:Splenocytes of mice were isolated,and the rotatary cell culture system was used to simulate microgravity.Lymphocytes were stimulated with mitotic agents Concanavalin A,and cells were treated with different concentrations of vitamin B1,proliferation indexes of lympho-cytes and levels of cytokines in supernatant were detected.Results:Simulated microgravity could inhibit proliferation of splenic lym-phocytes,and decrease levels of cytokines,while vitamin B1 could promote lymphocyte proliferation and cytokines production in cells cultured in simulated microgravity in a dose dependent manner.Conclusion:Vitamin B1 may attenuate the inhibitory effect of simulated microgravity on lymphocytes by regulating cell proliferation and secretion of cytokines.

【Objective】 To investigate the current situation and related factors of emotional and behavioral problems in children with diurnal urinary incontinence (DUI), in order to provide reference for clinical treatment and psychological intervention. 【Methods】 During Sep.2019 and Mar.2020, a survey was conducted in six primary schools in a county of Henan Province using the method of cluster sampling. The survey included general data and current DUI and urination-related problems, Strengths and Difficulties Scale (SDQ), and Pittsburgh Sleep Quality Index (PSQI). 【Results】 Of the 4 500 questionnaires distributed, 4 120 were collected, and 3 912 were qualified for statistical analysis. The overall prevalence of DUI was 3.6%. The detection rate of abnormal emotion and behavior in the DUI group was 48.2%, which was significantly higher than that in the non-DUI group (12.6%) (P<0.05). The scores of emotional symptoms, conduct problems, hyperactivity, peer communication problems and SDQ were significantly higher in the DUI group than in the control group (P<0.05). The results of multivariate analysis showed that gender, academic achievement, DUI times, caregivers, caregivers’ education level, family education style and sleep disorder were influencing factors of emotional and behavioral problems in DUI children (P<0.05). The total score of SDQ was positively correlated with the total score of PSQI (P<0.05). 【Conclusion】 The detection rate of emotional and behavioral abnormalities is high in DUI children, which is related to gender, academic achievement, DUI times, caregivers, education level of caregivers, family education style and sleep disorders.

Objective To investigate the differences in platelet and platelet parameters between patients with different types and etiologies of acute-on-chronic liver failure (ACLF) and the influence of platelet and its dynamic change on the prognosis of ACLF patients. Methods Clinical data, liver function parameters, platelet, and platelet parameters were collected from 364 patients with ACLF who attended Tianjin Third Central Hospital from January 2014 to December 2018. Platelet level and platelet parameters (platelet distribution width and mean platelet volume) were compared between the patients with different types and etiologies of ACLF, and their influence on the 90-day mortality rate of ACLF patients was analyzed, as well as the association of the dynamic change of platelet at baseline and on days 7 and 14 after admission with the prognosis of patients. The chi-square test was used for comparison of categorical data between groups; the Kruskal-Wallis H test or Mann-Whitney U test was used for comparison of continuous data between groups; the Kaplan-Meier method was used for survival analysis; the univariate and multivariate Cox regression analyses were used to analyze the parameters associated with prognosis; the repeated measures analysis of variance was used to analyze the dynamic change of platelet; receiver operating characteristic (ROC) curve was plotted based on platelet level and overall survival. Results The patients with type C ACLF had a significantly lower platelet level than those with type A/B ACLF (all P < 0.001). Compared with the ACLF patients with hepatitis B, the ACLF patients with autoimmune liver diseases had a significant reduction in mean platelet volume ( P =0.035). Based on the cut-off value obtained by the ROC curve analysis, the patients with a platelet level of < 60.5×10 9 /L had a significantly higher mortality rate than those with a platelet level of ≥60.5×10 9 /L ( P =0.006). Platelet level was an independent protective factor against 90-day death in ACLF patients (hazard ratio=0.995, 95% confidence interval: 0.990-0.999, P =0.026), and the mortality rate increased with the reduction in platelet level. The patients with type C ACLF had a significantly higher mortality rate than those with type A ACLF ( P < 0.05), and the death group tended to have a significantly greater reduction in platelet level ( P < 0.05). Compared with the survival group, the 90-day death group had a significantly greater reduction in platelet ( P =0.032). Conclusion There is a difference in platelet level between ACLF patients with different types. Platelet level is an important indicator for the 90-day prognosis of ACLF patients, and patients with a greater dynamic reduction in platelet tend to have a higher 90-day mortality rate.

Objective:To study the clinical characteristics of purulent meningitis complicated with hydrocephalus in neonates, and to analyze the risk factors of the disease.Methods:Neonates diagnosed with purulent meningitis complicated with hydrocephalus who hospitalized in the department of neonatology of the Second Affiliated Hospital of Wenzhou Medical University from January 2002 to August 2021 were selected as the case group. Neonates with positive pathogen cultures but no hydrocephalus during the same period were assigned by random number table method as the control group. The ratio of the control group and the case group was 2 ∶1. The clinical data such as bacteria distribution, cranial imaging, therapy and prognosis were compared between the two groups. The risk factors for hydrocephalus were predicted. Statistical analysis was conducted using chi-square test and multiple logistic regression analysis.Results:There were 33 cases in the case group and 66 cases in the control group. A total of 27 cases had confirmed pathogen results, of which 20 cases (74.1%) were Gram-negative bacteria and seven cases (25.9%) were Gram-positive bacteria. The time of diagnosis for hydrocephalus were 13.0(5.5, 28.5) days after the onset. Twenty-six cases received non-surgical treatment, while seven cases received surgery. The cure rate of case group was 42.4%(14/33), which was lower than that of control group (72.7%, 48/66), and the difference was statistically significant ( χ2=8.63, P=0.003). Univariate analysis showed that the incidences of protein>3 g/L in cerebrospinal fluid, glucose<2 mmol/L in cerebrospinal fluid, convulsions, central respiratory failure, intracranial hemorrhage and encephalomalacia in the case group were all higher than those in the control group, with statistical significance ( χ2=19.72, 12.04, 19.04, 5.73, 11.85 and 17.48, respectively, all P<0.050). Multivariate logistic regression analysis showed that convulsions (odds ratio ( OR)=4.476, 95% confidence interval ( CI) 1.091 to 18.363, P=0.037), intracranial hemorrhage ( OR=8.031, 95% CI 1.894 to 34.059, P=0.005) and encephalomalacia ( OR=35.189, 95% CI 2.954 to 419.150, P=0.005) were risk factors for neonatal purulent meningitis complicated with hydrocephalus. Conclusions:Gram-negative bacteria are common pathogen of neonatal purulent meningitis complicated with hydrocephalus. Convulsions, intracranial hemorrhage and encephalomalacia are important predictors for neonatal purulent meningitis complicated with hydrocephalus.

Objective:To explore the current status of the time to full enteral feeding (FEFt) in very low birth weight infants (VLBWI) and its influencing factors, so as to provide a reference for shortening FEFt and improving infants' prognosis.Methods:This study was a prospective cohort study. Through the Sina-northern Neonatal Network (SNN) , convenience sampling was used to select the data of 158 premature infants with birth weight less than 1 500 g in the Neonatal Intensive Care Unit of a Class Ⅲ Grade A hospital in Shandong Province from January 1, 2019 to December 31, 2020. The current status of FEFt in premature infants was analyzed. According to the median time of FEFt, premature infants were divided into two groups (short FEFt group and long FEFt group) . Single factor χ 2 test or Fisher exact probability, rank sum test and multivariate Logistic regression model were used to analyze the influencing factors of FEFt of VLBWI. Results:This study finally included 145 cases of VLBWI. Multivariate Logistic regression analysis showed that long fasting time, feeding intolerance (FI) , and long positive pressure ventilation treatment time were independent factors of the long FEFt of VLBWI ( P<0.05) , while gestational diabetes was its protective factor ( P<0.05) . FI was related to the fasting time and positive pressure ventilation treatment time, and it was the main reason leading to the long FEFt ( P<0.01) . Hypertension during pregnancy was an independent influencing factor of FI ( P<0.05) . Conclusions:FEFt of VLBWI is still long enough, which is related to long fasting time, long positive pressure ventilation time and FI. FI is the main reason, and hypertension during pregnancy is the root cause of FI. Medical and nursing staff should pay attention to and strengthen the management of VLBWI FI, shorten fasting time and accelerate the rate of milk feeding during positive pressure ventilation treatment, and strengthen the management of hypertension during pregnancy, so as to shorten FEFt in VLBWI and improve the prognosis.

Objective To evaluate the diagnostic value of fluorescent quantitative polymerase chain reaction(FQ-PCR) assay in human cytomegalovirus (HCMV) infection by detecting quantitatively HCMV DNA in peripheral blood mononuclear cell ( PBMC) of newborns,to evaluate the choice of detection methods for neonatal HCMV infection,and to provide a reasonable diagnosis basis for the clinic. Methods The urina-ry HCMV-DNA levels in 102 neonates with suspected HCMV infection were detected by FQ-PCR. The HCMV-DNA in PBMC was detected by FQ-PCR,and serum HCMV-IgM antibody was detected by chemilu-minescence immunoassay ( CLIA) . Then the sensitivity, specificity, coincidence rate and other indicators in the three kinds of detection methods were compared. Results Among 102 cases of suspected HCMV-infec-ted newborns,56 cases were symptomatic and 46 cases were non-symptomatic. The positive rate of HCMV-DNA in urine[87. 3％(89/102)] was significantly higher than that of PBMC HCMV-DNA [58. 8％ (60/102)] and serum HCMV-IgM antibody [40. 2％ (41/102)](all P<0. 01). For symptomatic HCMV-infec-ted newborns, PBMC HCMV-DNA quantitative detection sensitivity ( 71. 4％) was higher than serum HCMV-IgM antibody (57. 1％), and the specificity (56. 5％) was higher than urine HCMV-DNA quantifi-cation (8. 7％). The area under receiver operating characteristic(ROC) curve of PBMC HCMV-DNA quan-tification and HCMV-IgM antibody detection were 0. 642 (P=0. 014) and 0. 659 (P=0. 006),respectively;therefore PBMC HCMV-DNA and HCMV-IgM antibodies were of great importance in diagnosing symptom-atic HCMV infection in neonates. The area under the ROC curve of urinary HCMV-DNA quantification was 0. 461 ( P =0. 496 ) , and there was no significant difference between symptomatic and non-symptomatic HCMV infections in neonates. Conclusion HCMV-DNA detection in PBMC has higher sensitivity compared with HCMV-DNA detection in urine and higher specificity compared with IgM antibody detection in serum. It can be used to detect the early infection of HCMV in newborns. The rate of detection of HCMV infection can be improved by combination of the three methods.