OBJECTIVE: To assess the association of C677T polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene with autistic behavior and inheritance pattern of children patients. METHODS: Ninety three autism patients were selected as the study group, whilst 93 healthy children were selected as the control group. The C677T genotype of the MTHFR gene was determined, and the correlation between the genotype and the autistic behavior and inheritance pattern were investigated. RESULTS: MTHFR gene C677T locus revealed three genotypes CC, CT and TT. Compared with the control group, the study group had fewer CC genotype but more TT genotype (P<0.05). Individuals with the three genotypes showed a statistically significant difference in the frequencies of four problem behaviors (P<0.05). Regression analysis showed that at least one T allele encoding the degree of 1 and 2 for the 4 problem behaviors that were statistically different. MTHFR gene C677T genotype was associated with autism under the recessive inheritance model and allelic inheritance model (P<0.05). CONCLUSION The C677T polymorphism of the MTHFR gene is associated with autistic behaviors. Children with the TT genotype or T allele are at higher risk of developing autism, particularly direct gaze, complex limb movements, self-injurious behavior and hyperactivity 1 and 2 related with the degree of coding.
Autistic Disorder/genetics* ; Child ; Genetic Predisposition to Disease ; Genotype ; Humans ; Inheritance Patterns ; Methylenetetrahydrofolate Reductase (NADPH2)/genetics* ; Problem Behavior

Objective To investigate the clinical features and autoantibody characteristics of patients with drug-induced liver injury (DILI). Methods A retrospective analysis was performed for the patients with abnormal liver function who were admitted to Beijing Ditan Hospital, Capital Medical University, from September 2014 to September 2018 and were diagnosed with DILI based on RUCAM score, and related data on admission were collected, including baseline liver function, renal function, routine blood test results, five immune indices, autoantibody, and liver biopsy results. The t -test was used for comparison of normally distributed continuous data between two groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups; the chi-square test was used to compare the detection rate of autoantibody between the patients with different sexes or types of liver injury. A logistic regression analysis was used to investigate whether autoantibody had a regression relationship with sex, age, and type of injury, and an ordinal logistic regression analysis was performed with baseline laboratory results as independent variables and anti-nuclear antibody (ANA) titer as the dependent variable. Results A total of 419 patients with DILI were enrolled in the study, with a median age of 47 (35-55) years, among whom male patients accounted for 32.5% (136/419) and female patients accounted for 67.5% (283/419). Among these 419 patients, 88 (21.5%) had hepatocellular-type liver injury, 87 (21.2%) had mixed-type liver injury, and 235 (57.3%) had cholestasis-type liver injury. The detection rate of autoantibodies was 50.6% (212/419), and the detection rate of ANA was 42.9% (180/419), with a titer of mainly 1∶ 100 (104/180). There was no significant difference in the detection rate of autoantibodies between the patients with different sexes ( χ 2 =2.658, P =0.103) or different types of injury ( χ 2 =0.859, P =0.651). The binary logistic regression analysis showed that autoantibody did not have a regression relationship with sex, age, and type of injury (all P > 0.05) There were significant differences in prothrombin time activity (PTA) and international normalized ratio (INR) between the positive autoantibody group and the negative autoantibody group ( t =2.161, P =0.031; Z =-3.010, P =0.003). The ordinal logistic regression analysis showed that INR (odds ratio [ OR ]=3.101, P =0.040) and IgG ( OR =1.043, P =0.014) were associated with ANA grade. Conclusion There is a relatively high detection rate of autoantibodies in patients with DILI, and the detection rate of autoantibodies is not associated with sex, age, or type of injury. There are differences in PTA and INR between autoantibody-positive patients and autoantibody-negative patients, and the levels of INR and IgG are correlated with antibody titer.

Hepatocellular carcinoma (HCC), which makes up the majority of liver cancer, is induced by the infection of hepatitis B/C virus. Biomarkers are needed to facilitate the early detection of HCC, which is often diagnosed too late for effective therapy. The tRNA-derived small RNAs (tsRNAs) play vital roles in tumorigenesis and are stable in circulation. However, the diagnostic values and biological functions of circulating tsRNAs, especially for HCC, are still unknown. In this study, we first utilized RNA sequencing followed by quantitative reverse-transcription PCR to analyze tsRNA signatures in HCC serum. We identified tRF-Gln-TTG-006, which was remarkably upregulated in HCC serum (training cohort: 24 HCC patients vs. 24 healthy controls). In the validation stage, we found that tRF-Gln-TTG-006 signature could distinguish HCC cases from healthy subjects with high sensitivity (80.4%) and specificity (79.4%) even in the early stage (Stage I: sensitivity, 79.0%; specificity, 74.8%; 155 healthy controls vs. 153 HCC patients from two cohorts). Moreover, in vitro studies indicated that circulating tRF-Gln-TTG-006 was released from tumor cells, and its biological function was predicted by bioinformatics assay and validated by colony formation and apoptosis assays. In summary, our study demonstrated that serum tsRNA signature may serve as a novel biomarker of HCC.
Biomarkers ; Biomarkers, Tumor/genetics* ; Carcinoma, Hepatocellular/diagnosis* ; Hepatitis B virus ; Humans ; Liver Neoplasms/diagnosis* ; RNA, Transfer/genetics*

Objective:To understand the current situation of nurses in 52 hospitals in China on mastery of knowledge about skin injury in the elderly based on the background of mixed-mode homogenization training.Methods:Using the convenient sampling method, a total of 1 067 nurses from 52 hospitals in China were selected as the research objects in January 2021. A self-designed questionnaire on knowledge of skin injury in the elderly was used to investigate the nurses through the questionnaire star and univariate analysis was used to analyze the influencing factors. A total of 1 067 questionnaires were distributed and 1 067 valid questionnaires were recovered, and the effective recovery rate was 100%.Results:The knowledge scores of pressure injury, incontinence-associated dermatitis, skin tear and xerosis cutis among 1067 nurses were (95.66±7.37) , (95.65±9.15) , (91.37±15.45) and (87.67±15.91) , respectively. The results of univariate analysis showed that hospital grade was the influencing factor of nurses' knowledge score of pressure injury, skin tear and incontinence-associated dermatitis ( P<0.05) , educational background was the influencing factor of nurses' knowledge score of skin tear ( P<0.05) , professional title was the influencing factor of nurses' knowledge scores of pressure injury, incontinence-associated dermatitis and xerosis cutis ( P<0.05) . Conclusions:Hospitals at all levels need to strengthen the theoretical and practical knowledge training for nurses on skin xerosis and skin tear in the elderly, especially for nurses with primary titles and lower education in grassroots hospitals.

Hepatitis B virus (HBV) is one of the infectious viruses that seriously endanger human health. There are more than 257 million people infected with chronic HBV in the world, and about and about 887 thousand people die of cirrhosis, liver failure and hepatocellular carcinoma caused by chronic HBV infection every year. It has caused serious harm to society and individuals. In China, the main route of transmission of chronic hepatitis B is mother-to-child transmission (MTCT). Therefore, blocking MTCT of HBV is an important measure to prevent the occurrence and development of hepatitis B. This article is to review the related research on blocking HBV MTCT at home and abroad, hoping to provide help for clinical practice.

Objective:To investigate the distribution characteristics and related factors of HBsAb in infants born to women with chronic hepatitis B virus (HBV) infection.Methods:A total of 605 infants born to women with chronic HBV infection who met the requirements for inclusion were selected as the subjects. Information about the mother′s previous HBV infection, biochemical indicators during pregnancy, pregnancy complications, information about delivery, and hepatitis B test result after birth were collected. HBsAg and HBsAb at the age of 1 year were determined, and HBsAg and HBsAb at the age of 7 months were retrospectively collected. The factors influencing HBsAb in infants were analyzed by ordered logistic regression.Results:In 605 infants, the infection rate was about 1%. Among them, 6 infants were positive for HBsAg and HBV DNA at 7 months and 1 year of age. Uninfected infants were divided into groups according to HBsAb titers. The result showed that there were significant differences in prothrombin activity (PTA) ( χ2=11.17, P=0.01), positive rate of HBeAg ( χ2=7.87, P=0.049) and HBsAg positive rate at birth ( χ2=10.52, P=0.02) among different groups. Multivariate ordered Logistic regression analysis showed that HBsAg negative at birth was an independent protective factor for HBsAb at 7 months of age ( OR=1.564, 95% CI 1.092-2.239, P=0.015). Logistic regression analysis of HBsAb at 1 year of age showed maternal gestational diabetes mellitus ( OR=1.578, 95% CI 1.126-2.210, P=0.008), infant enhanced immunization ( OR=81.207, 95% CI 31.202-211.352, P < 0.001) and antibody level at 7 months of age ( OR=42.123, 95% CI 22.824-77.739, P < 0.001) were independently associated with HBsAb at 1 year of age. Conclusions:HBsAg negative in venous blood at birth was an independent protective factor for HBsAb at 7 months of age, and enhanced immunization was an independent protective factor for HBsAb at 1 year of age.

OBJECTIVE: To analyze the prognosis of fetuses with cystic hygroma (CH) or nuchal translucency (NT) or nuchal fold (NF) thickening detected by prenatal echography. METHODS: From January 2014 to December 2015, 124 fetuses with CH and NT/NF thickening on prenatal echography were enrolled from Women's Hospital of Zhejiang University School of Medicine. The basic clinical information, ultrasonic results, pregnancy outcomes and newborn follow-ups were analyzed. The cases were grouped by prognosis and the factors affecting prognosis were analyzed with logistic regression. RESULTS: There were 85 cases of labor induction including one stillbirth and 39 cases delivered. Except one infant who died after birth, all live births survived with good prognosis. Univariate analysis showed that the gestational age at diagnosis of poor prognosis group was earlier than that of good prognosis group (<0.01); and the former group also had higher hydrops fetalis rate and additional structural anomalies rate (all <0.01). Multivariate regression analysis showed that hydrops fetalis (=90.105, <0.05) and additional structural anomalies (=61.854, <0.05) were risk factors of poor prognosis in fetuses with CH and NT/NF thickening. CONCLUSIONS Fetuses with diagnosed CH or NT/NF thickening on prenatal ultrasonography are likely to be associated with chromosomal abnormality. Early gestational weeks, hydrops fetalis and additional structural anomalies may indicate poor prognosis.
Female ; Fetus ; Humans ; Hydrops Fetalis ; etiology ; Infant, Newborn ; Lymphangioma, Cystic ; complications ; diagnosis ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Outcome ; Prognosis ; Ultrasonography, Prenatal

We aimed to obtain the recombinant aminopeptidase encoded by Listeria monocytogenes (L. monocytogenes) gene lmo1711, and characterized the enzyme. First, the amino acid sequences of Lmo1711 from L. monocytogenes EGD-e and its homologues in other microbial species were aligned and the putative active sites were analyzed. The putative model of Lmo1711 was constructed through the SWISS-MODEL Workspace. Then, the plasmid pET30a-Lmo1711 was constructed and transformed into E. coli for expression of the recombinant Lmo1711. The his-tagged soluble protein was purified using the nickel-chelated affinity column chromatography. With the amino acid-p-nitroaniline as the substrate, Lmo1711 hydrolyzed the substrate to free p-nitroaniline monomers, whose absorbance measured at 405 nm reflected the aminopeptidase activity. The specificity of Lmo1711 to substrates was then examined by changing various substrates, and the effect of metal ions on the catalytic efficiency of this enzyme was further determined. Based on the bioinformatics data, Lmo1711 is a member of the M29 family aminopeptidases, containing a highly conserved catalytic motif (Glu-Glu-His-Tyr-His-Asp) with typical structure arrangements of the peptidase family. The recombinant Lmo1711 with a size of about 49.3 kDa exhibited aminopeptidase activity and had a selectivity to the substrates, with the highest degree of affinity for leucine-p-nitroaniline. Interestingly, the enzymatic activity of Lmo1711 can be activated by Cd²⁺, Zn²⁺, and is strongly stimulated by Co²⁺. We here, for the first time demonstrate that L. monocytogenes lmo1711 encodes a cobalt-activated aminopeptidase of M29 family.

Subcutaneous panniculitis-like T cell lymphoma (SPTCL) is a very rare form of peripheral α/β T cell skin lymphoma that is localized primarily in the subcutaneous adipose tissues.It is characterized by single or multiple painful subcutaneous nodules or lumps,often affecting the limbs.The patient presented to the Department of Dermatology,Second Xiangya Hospital,Central South University,who suffered from intermittent fever and erythema on the body,finally was diagnosed as SPTCL after histopathological examinations for twice.

Objective To investigate and evaluate the diagnostic value of transcranial doppler ultrasound (TCD) on brain death in patients with severe craniocerebral injury.Methods Forty-two cases of severe craniocerebral injury from Affiliated Hospital of Jining Medical University were divided into brain death group and survival group,according to the clinical prognosis.TCD was conducted to examine brain blood flow numerical and changed characteristics of the spectrum.Average blood flow velocity (Vm),pulse index (PI),diastolic blood flow in reverse (reverberating flow) and small systolic peaks in early systole (wave of spikes)were documented.TCD parameters were compared between the two groups with t test.Results In the brain death group,frequency of reverberating flow was 86.67％ and frequency of wave of spikes was 13.33％.In survival group,frequency of reverberating flow was 14.81％ and no wave of spikes was recorded.The difference in frequencies of reverberating flow and wave of spikes between the two groups was significant(x2 =28.25,P ＜0.01).The average speed of bilateral middle cerebral artery blood flow in brain death group((20.02±13.96) cm/s) was significantly reduced compared with survival group((56.81± 16.84) cm/s,t=2.30,P＜0.05).Pulse index (PI) values in brain death group (4.02±3.49)were significantly increased compared with survival group (1.24±1.03) (t=2.10,P＜0.05).Conclusion Reverberating flow or wave of spikes is an important marker for brain death in patients with severe craniocerebral injury.TCD may be applied to clinically confirm the diagnosis of brain death.