Objective:To summarize the clinical and genetic characteristics of children with Menkes disease(MD).Methods:The clinical manifestations, auxiliary examinations and genetic testing results of 15 MD children admitted to the Department of Pediatrics of the Third Affiliated Hospital of Zhengzhou University, Children′s Hospital Affiliated of Zhengzhou University and the First Affiliated Hospital of Zhengzhou University from June 2016 to October 2022 were analyzed retrospectively.These children were followed up.Results:All the 15 children were male.The age at onset was ranging from 9 days to 5.5 months.White skin, curly hair, skin laxity, hypotonia and severe developmental delay were found in all children, with epilepsy in 13 children, anemia in 11 children and granulocytopenia in 4 children.The concentration of ceruloplasmin in the serum of MD children was lower than that in healthy children of the same age.The concentration of ceruloplasmin in MD children younger than 3 months was significantly lower than that in healthy children of the same age and MD children older than 3 months.The brain magnetic resonance imaging showed abnormalities in all 15 children.Twelve children showed tortuous intracranial vessels in brain magnetic resonance angiography examinations.All the 15 children had ATP7A gene pathogenic variants, including 4 missense variants(2 cases with c. 2179G>A), 3 frameshift variants, 3 nonsense variants, 3 exon deletions and 2 splice site variants.Among these children, 1 had a novel gene variant that had not been reported so far(c.2968C>T). Conclusions:MD has early onset age and diverse clinical manifestations, but also has characteristic clinical manifestations and applicable auxiliary examinations.Its diagnosis depends on genetic testing.The c. 2179G>A and exon deletions may be hot mutations in Chinese MD patients.

Objective:To explore the implicit bias of body image measurement in young and middle-aged people using implicit relational assessment procedure (IRAP) .Methods:ProQuest, Scopus, EBSCO, Cochrane Library, Web of Science, PubMed, China National Knowledge Infrastructure, WanFang data, and VIP databases were systematically searched to collect articles on the use of IRAP to measure implicit bias in body image in young and middle-aged populations. The retrieval period was from the establishment of the databases to December 15, 2023. Meta-analysis was conducted using Review Manager 5.4 software.Results:A total of 11 articles were included. The results of the Meta-analysis showed that the score of D general (reaction time index of pro-thinness and anti-fat) was 0.09 (95% CI: 0.07~0.11, P<0.01), indicating that compared with overweight/obesity, young and middle-aged people had a strong sense of identification with thinness and a stronger desire for thinness. The score of D thin (reaction time index of pro-thinness) was 0.26 (95% CI: 0.12~0.39, P<0.01), indicating that young and middle-aged people' reaction speed was faster when they agreed with thinness and participants had the desire to be thin. The score of D fat (reaction time index of anti-obesity) was -0.09 (95% CI: -0.21~0.03, P>0.05), indicating that young and middle-aged people had no bias against overweight/obesity. Conclusions:Young and middle-aged people generally have the performance of implicit thinness, with a strong desire for thinness and no implicit bias towards overweight.

Circular RNA(circRNA)represents a unique class of closed-loop structured non-coding RNAs involved in various biological processes such as cell proliferation,differentiation,and apopto-sis.They play a significant role in the development of numerous diseases,and also serve as poten-tial biomarkers and therapeutic targets.To explore the impact of circRNA on viral replication,this study performed an omics measurement and analysis of circRNA differential expression in MC38 cells infected with HY12 enterovirus.It was found that,following HY12 virus infection,the ex-pressionlevels of 570 circRNAs were upregulated,while 381 circRNAs were downregulated.A-mong the upregulated circRNAs,the significantly upregulated circRNA mmu_circ_0001083 was selected for further investigation into its association with HY12 infection and its impact on viral replication.The results indicated that after HY12 virus infection,the expression of host circRNA mmu_circ_0001083 significantly increased,and its expression level was dependent on the virus dos-age and time.Compared to normal MC38 cells infected with the HY12 virus,cells with knocked down expression of circRNA mmu_circ_0001083 showed reduced expression of the 2C protein and significantly lower viral titers.Conversely,after HY12 virus infection in MC38 cells with overexpressed circRNA mmu_circ_0001083,there was an increase in the expression of the 2C pro-tein and a significant rise in viral titers.These results suggest that the upregulation of host cir-cRNA mmu_circ_0001083 is significantly positively correlated with the replication of HY12 virus,meaning mmu_circ_0001083 plays a positive regulatory role in the replication of HY12.This find-ing lays a foundation for future in-depth studies on the regulatory mechanisms of circRNA on viral replication.

A recombinant enzyme-mediated nucleic acid amplification(RAA)technology combined with colloidal gold test strips was developed for the rapid detection of bovine enterovirus(BEV).Using the highly conserved BEV 5'UTR as the target sequence,the primers were designed and screened.Downstream primer labeled with biotin at the 5'end and the probe labeled with 6-FAM at the 5'end were used to establish the RT-RAA method.The test strips were assembled by using mouse-derived anti-6-FAM monoclonal antibody as the gold standard antibody,with a streptavidin encapsulated in the detection line and sheep anti-mouse IgG encapsulated in the quality control line.A RT-RAA-LFD method was established by combing RAA technique with the prepared later-al flow device test strips for the detection of bovine enterovirus nucleic acids.The specificity,sensi-tivity,repeatability,and clinical application of the method are also evaluated.The results showed that the optimal primer concentration of this method was 5 μmol/L,and the amplification of BEV nucleic acids was accomplished by reacting at 35 ℃ for 8 min with the lowest detection limit of 101 copies/μL.No cross-reactivity with bovine viral diarrhea virus,bovine parvovirus,and foot-and-mouth disease virus was observed.The efficacy for the prepared test strips was at least for 90 d kept at 4 ℃.Detection of 74 clinical samples yielded a similar result compared with RT-PCR method.The above results demonstrated that the BEV RT-RAA-LFD method established in this study has high sensitivity,specificity,and more convenient to use,which is suitable for clinical de-tection on-site and provides a new technical tool for the diagnosis and epidemiological investigation of BEV infection.

Objective:In this study, the collected mosquito samples were subjected to viral isolation to identify the species and branch characteristics of arboviruses in five regions of Shanxi Province.Methods:Eight arboviruses in mosquito samples collected from July to September 2020 were detected by real-time fluorescent quantitative PCR, and virus isolation was carried out through cell culture. Virus isolates were identified and analyzed by molecular biology and bioinformatics method.Results:We detected 1 batch of positive samples of Japanese encephalitis virus, 2 batches of positive samples of Culex flavivirus and 8 batches of positive samples of Nam Dinh virus among 121 batches of mosquito samples. Seven virus isolates were isolated, numbered: SX-YJ-Cxp-4、SX-YJ-Ars-2、SX-YJ-Cxp-1、SX-LY-Cxp-10、SX-GP-Ars-5、SX-GP-Cxp-2、SX-GP-Cxp-4, all of which were identified as Nam Dinh virus, and the whole genome sequencing was performed on one of them, and the result showed that Shanxi Nam Dinh virus isolate and Yunnan Nam Dinh virus isolate belonged to the same evolutionary branch.Conclusions:Nam Dinh virus was isolated and identified on the specimen from Shanxi province for the first time.

Objective:To investigate the effect and role of the hepatitis B virus (HBV) on the expression of inhibin (PHB) in the proliferation and survival of hepatocellular carcinoma (HCC) cells.Methods:The expression of PHB in 13 pairs of HBV-infected livers, normal livers and HepG2.2.15 and HepG2 cells was detected by real-time fluorescent quantitative PCR and Western blot. Liver tissues were collected from seven patients with chronic hepatitis B before and after antiviral (tenofovir) treatment, and the expression of PHB was detected by RT-PCR and Western blot. HepG2.2.15 cells were transfected with Pcmv6-AC-GFP-PHB, and control vectors were collected. DNA content was analyzed by flow cytometry. The proliferation level of each cell group was detected using the EdU cell proliferation assay. HepG2.2.15 cells transfected with Pcmv6-AC-GFP-PHB and the control vector were cultured in serum-free medium for 6 days. Apoptosis was measured at the indicated time points using fluorescence-activated cell sorting (FACS)-based Annexin-V/PI double staining.Results:Compared with normal liver tissue, the expression of PHB in HBV-infected liver tissue was down-regulated ( P < 0.01). Compared with HepG2 cells, the expression of PHB in HepG2.2.15 cells was significantly decreased ( P < 0.01). The expression level of PHB in liver tissue after antiviral treatment (tenofovir) was significantly higher than that before treatment ( P < 0.01). Compared with the control vector, the proliferation rate of HepG2.2.15 cells transfected with Pcmv6-AC-GFP-PHB was significantly lower than that of the control vector, and the apoptosis rate of HepG2.2.15 cells transfected with the Pcmv6-AC-GFP-PHB vector was significantly higher than the control vector ( P < 0.01). Conclusion:HBV down-regulates the expression of inhibin to promote the proliferation and survival of hepatocellular carcinoma cells.

As far the current severe coronavirus disease 2019 (COVID-19), respiratory disease is still the biggest threat to human health. In addition, infectious respiratory diseases are particularly prominent. In addition to killing and clearing the infection pathogen directly, regulating the immune responses against the pathogens is also an important therapeutic modality. Sirtuins belong to NAD+-dependent class III histone deacetylases. Among 7 types of sirtuins, silent information regulator type-1 (SIRT1) played a multitasking role in modulating a wide range of physiological processes, including oxidative stress, inflammation, cell apoptosis, autophagy, antibacterial and antiviral functions. It showed a critical effect in regulating immune responses by deacetylation modification, especially through high-mobility group box 1 (HMGB1), a core molecule regulating the immune system. SIRT1 was associated with many respiratory diseases, including COVID-19 infection, bacterial pneumonia, tuberculosis, and so on. Here, we reviewed the latest research progress regarding the effects of SIRT1 on immune system in respiratory diseases. First, the structure and catalytic characteristics of SIRT1 were introduced. Next, the roles of SIRT1, and the mechanisms underlying the immune regulatory effect through HMGB1, as well as the specific activators/inhibitors of SIRT1, were elaborated. Finally, the multitasking roles of SIRT1 in several respiratory diseases were discussed separately. Taken together, this review implied that SIRT1 could serve as a promising specific therapeutic target for the treatment of respiratory diseases.

Parkinson's disease(PD)is the second most common neurodegenerative disease in the world;however,it lacks effective and safe treatments.Ginkgo biloba dropping pill(GBDP),a unique Chinese G.biloba leaf extract preparation,exhibits antioxidant and neuroprotective effects and has a potential as an alternative therapy for PD.Thus,the aims of this study were to evaluate the effects of GBDP in in vitro and in vivo PD models and to compare the chemical constituents and pharmacological activities of GBDP and the G.biloba extract EGb 761.Using liquid chromatography tandem-mass spectrometry,46 GBDP constitu-ents were identified.Principal component analysis identified differences in the chemical profiles of GBDP and EGb 761.A quantitative analysis of 12 constituents showed that GBDP had higher levels of several flavonoids and terpene trilactones than EGb 761,whereas EGb 761 had higher levels of organic acids.Moreover,we found that GBDP prevented 6-hydroxydopamine-induced dopaminergic neuron loss in zebrafish and improved cognitive impairment and neuronal damage in methyl-4-phenyl-1,2,3,6-tetrahydropyridine-induced PD mice.Although similar effects were observed after EGb 761 treatment,the neuroprotective effects were greater after GBDP treatment on several endpoints.In addition,in vitro results suggested that the Akt/GSK3β pathway may be involved in the neuroprotective effects of GBDP.These findings demonstrated that GBDP have potential neuroprotective effects in the treatment of PD.

Objective:To investigate the clinical application value of amplitude-integrated electroencephalogram (aEEG) in evaluating the prognosis of brain function in children with disturbance of consciousness.Methods:A total of 100 children with disturbance of consciousness admitted to the pediatric intensive care unit (PICU) in the Third Affiliated Hospital of Zhengzhou University from October 2018 to September 2019 were enrolled.All patients completed aEEG and video electroencephalogram (vEEG) (monitoring hours≥ 6 h), modified Glasgow coma scale (GCS) rating, peripheral blood brain injury marker S100β protein and neuron-specific enolase (NSE) detection within 48 hours of admission.The prognosis was evaluated based on the above results.The actual prognosis of the children was recorded by telephone follow-up based on the pediatric cerebral performance category score (PCPC) until 6 months of onset or clinical death.The receiver operating characteristic curve (ROC) was used to analyze and compare the clinical efficacy of aEEG, vEEG, improved GCS, S100β protein, and NSE in evaluating the prognosis of brain function in children with disturbance of consciousness. Kappa consistency test was made to evaluate the correlation between the estimated prognosis and the actual prognosis. Results:The area under the ROC curve (AUC) of aEEG, vEEG, improved GCS, S100β protein and NSE was 0.847, 0.810, 0.729, 0.685 and 0.784, respectively, indicating the five methods had statistically significant value in evaluating the prognosis of brain function (all P<0.05). Taking the Z value as the gold standard, the clinical efficacy of aEEG in evaluating the prognosis of brain function was significantly different from that of S100β ( Z>1.96, P<0.05), but showed no significant difference with that of other 3 methods.Using the best cut-off value as the gold standard for evaluating the prognosis, aEEG had the highest sensitivity to evaluate a poor prognosis (90.5%). The Kappa consistency test showed that the prognosis predicted by aEEG was consistent with the actual prognosis ( Kappa=0.550, P<0.01). Conclusions:aEEG has a good evaluation value for the brain function prognosis of children with disturbance of consciousness.aEEG has high sensitivity, and the predicated prognosis is consistent with the actual clinical prognosis, so it can be widely used in the diagnosis and treatment of PICU.

The clinical data of 69 patients with non-HIV-related cryptococcal meningitis admitted in the Second Hospital of Hebei Medical University from January 2013 to May 2019 were analyzed retrospectively.The main presentations of 69 patients are headache,fever,nausea,vomiting, visual impairment, hearing damage.Among them, 36 cases (52%) had underlying diseases, 30 cases (43%) were misdiagnosed, and 38 cases (55%) were complicated with high intracranial pressure. Cerebrospinal fluid examination showed that leukocytes increased in 47 cases, protein increased in 55 cases, chloride decreased in 41 cases, glucose decreased in 34 cases. The imaging findings were cerebral ischemia, hydrocephalus, meningeal or cerebral parenchyma enhancement. During the induction period, 63 cases were treated with combined antifungal drugs and 6 cases were treated with single antifungal drugs. The clinical symptoms were improved in 54 cases, 9 cases were discharged automatically and 6 cases died. The clinical manifestations, routine and biochemical examination of cerebrospinal fluid, imaging findings are not specific for patients with non-HIV-related cryptococcal meningitis.So early and multiple lumbar puncture should be performed to find etiological evidence to reduce misdiagnosis. The combination of antifungal drugs during the induction period is safe and effective.