Objective:To explore the clinical, imaging, and genetic characteristics of an adult patient with sporadic Neuronal intranuclear inclusion disease (NIID).Methods:A patient who had visited the First People′s Hospital of Chenzhou on August 6, 2023 was selected as the study subject. Results of clinical examination, neuroimaging, and genetic testing were retrospectively analyzed along with a literature review. The number of GGC trinucleotide repeats in the 5′-untranslated region of the NOTCH2NLC gene was determined by GC-PCR. Results:The patient had presented with episodic encephalopathy, with enhanced magnetic resonance imaging showing enhancement features of the posterior cerebral cortex during the period of acute episode. Genetic testing revealed an increased number of GGC repeats ( n = 97) in the 5′- untranslated region of the NOTCH2NLC gene, which confirmed the diagnosis of NIID. Conclusion:Clinical attention should be paid to the enhanced MRI findings of patients with adult-onset NIID, for whom posterior cortical enhancement may be characteristic manifestation during the acute phase of encephalopathy-like episode.

Ferroptosis is a novel form of programmed cell death that relies on the accumulation of intracellular iron ions,causing irreversible damage to cell membranes through extensive lipid peroxidation,ultimately leading to cell death.Ferroptosis is closely associated with various neurodegenerative diseases.The ferroptosis of glial cells can regulate neuronal death by inducing neuroinflammation and affecting oxidative stress,thereby exacerbating the progression of neu-rodegenerative diseases.This review summarizes how ferroptosis occurs in different types of glial cells and its impact on neurons,aiming to deeply understand the effects of glial cell ferroptosis on neurodegenerative diseases and explore the po-tential therapeutic applications of inhibiting this process in treatment.

Objective To investigate the safety and feasibility of peripheral vascular intervention via the ipsilateral transulnar access(TUA)due to failure of transradial access(TRA)puncture.Methods The clinical data of 2546 peripheral vascular interventions via TRA,which were performed at authors'hospital between January 2019 and December 2021,were retrospectively analyzed.Among the 2546 interventions,TRA puncture failed in 37 procedures,and in 27 of these patients the ipsilateral TUA puncture had to be adopted.The puncture success rate,surgical success rate and puncture approach-related complications of TUA of the 27 patients receiving ipsilateral TUA puncture were analyzed.Results The success rate of ipsilateral TUA puncture after TRA puncture failed was 96.3％(26/27),and in one patient transfemoral access(TFA)puncture had to be substituted because of the ulnar artery spasm.The total success rate of interventional procedures was 96.3％(26/27).No serious complications occurred,and the incidence of minor complications was 19.2％(5/26).Conclusion Preliminary results indicate that for the experienced TRA operators,using ipsilateral TUA puncture due to failure of TRA puncture is a safe and feasible strategy choice.

Objective:To investigate the knowledge of Sixth Chinese national consensus report on the management of Helicobacter pylori infection ( treatment excluded) (hereinafter referred to as sixth national consensus) and 2022 Chinese national clinical practice guideline on Helicobacter pylori eradication treatment (hereinafter referred to as the guideline)among medical staff from general hospitals in Hainan. Methods:From February 20 to May 7, 2023, a questionnaire survey on the diagnosis and treatment of Helicobacter pylori ( H. pylori) infection was conducted among 1 463 medical staff from 15 general hospitals in Hainan Province. The questionnaire was drawn up according to the sixth national consensus and the guideline, covering knowledge of 6 sections, induding H. pylori related diseases, detection of H. pylori, eradication, prevention and influence factors of eradication of H. pylori, etc. Chi-square test was used for statistical analysis. Results:A total of 1 463 valid questionnaires were collected with the effective responsive rate of 100.00%.The 1 463 subjects included 225 gastroenterologists and 1 238 other medical staff(including 503 physicians from other departments, 264 surgeons and 471 medical technologists and pharmacists). About 78.67%(177/225)of gastroenterologists agreed that the overall infection rate of H. pylori in China was more than 20%, the awareness rate was higher than that of other medical staff (physicians from other departments 65.41%(329/503), surgeons 61.74%(163/264), medical technologists and pharmacists 60.30%(284/471); the following datas were sorted by this position), and the difference was statistically significant ( χ2=30.97, P<0.001). About 51.11%(115/225) of gastroenterologists considered that H. pylori serological antibody test could not be used as a diagnostic method for current infection, the awareness rate was higher than that of other medical staff(22.07%(111/503), 14.02%(37/264), 12.31%(58/471)), and the difference was statistically significant( χ2 =152.66, P<0.001). Proton pump inhibitor and potassium-competitive acid blocker should be discontinued for 2 weeks, and antibiotics and bismuth should be discontinued for 4 weeks before urea breath test, and the awareness rates of gastroenterologists were higher than those of other medical staff (38.67%(87/225) vs. 23.26%(117/503), 19.70%(52/264), 18.47%(87/471); 60.89%(137/225) vs. 26.64%(134/503), 25.76%(68/264), 23.78%(112/471)), and the differences were statistically significant ( χ2 =133.70 and 165.51, both P<0.001). For refractory H. pylori infection, 98.67%(222/225)of gastroenterologists agreed with the individualized diagnosis and treatment of H. pylori infection should be guided by bacterial culture, antibiotic susceptibility test or drug resistance gene test, and the awareness rate was higher than that of other medical staff (91.85%(462/503), 93.56%(247/264), 93.21%(439/471)), and the difference was statistically significant( χ2=20.55, P=0.002). About 70.67% (159/225) of gastroenterologists recommended a bismuth containing quadruple regimen, 80.44% (181/225) supported a 10 to 14 day H. pylori eradication course, and the awareness rates were higher than other medical staff (46.92%(236/503), 33.33%(88/264), 32.91%(155/471); 67.20%(338/503), 59.09%(156/264), 53.93%(254/471)), and the differences were statistically significant ( χ2=111.25 and 59.99, both P<0.001). The understanding rates of the sixth national consensus and the guideline in gastroenterologists was 85.33% (192/225), which was higher than that of other medical staff (64.21%(323/503), 66.67%(176/264), 57.96%(273/471)), and the difference was statistically significant ( χ2=85.47, P<0.001). Conclusions:Gastroenterologists from general hospitals in Hainan Province have a better understanding of the sixth national consensus and the guideline than other medical staff. However, there is still a lack of deep understanding of the sixth national consensus and the guideline, and it is necessary to further strengthen the learning and application of the sixth national consensus and the guideline.

Objective To construct an evaluation index system for the capability of comprehensive control of mountain-type zoonotic visceral leishmaniasis based on the One Health concept, so as to provide insights into the control and elimination of mountain-type zoonotic visceral leishmaniasis using the One Health approach. Methods A preliminary evaluation index system was constructed based on literature review, panel discussions and field surveys. Thirty-three experts were selected from 7 provincial disease control and prevention centers in Beijing Municipality, Hebei Province, Shanxi Province, Henan Province, Sichuan Province, Shaanxi Province and Gansu Province where mountain-type zoonotic visceral leishmaniasis was endemic, and two rounds of expert consultations were conducted to screen the indicators. The positive coefficient, degree of concentration, degree of coordination, and authority of the experts were calculated, and the normalized weights of each index were calculated with the analytic hierarchy process. Results The response rates of questionnaires during two rounds of expert consultation were both 100.00% (33/33), and the authority coefficients of the experts were 0.86 and 0.88, respectively. The coefficients of coordination among experts on the rationality, importance, and operability of the indicators were 0.392, 0.437, 0.258, and 0.364, 0.335, 0.263, respectively (all P values < 0.05). Following screening, the final evaluation index system included 3 primary indicators, 17 secondary indicators, and 50 tertiary indicators. The normalized weights of primary indicators “external environment”, “internal support” and “comprehensive control” were 16.98%, 38.73% and 44.29%, respectively. Among the secondary indicators of the primary indicator “external environment”, the highest weight was seen for natural environment (66.67%), and among the secondary indicators of the primary indicator “internal support”, the lowest weight was seen for the scientific research for visceral leishmaniasis control (8.26%), while other indicators had weights of 12.42% to 13.38%. Among the secondary indicators of the primary indicator “comprehensive control”, the weight was 16.67% for each indicator. Conclusions An evaluation index system has been constructed for the capability of comprehensive control of mountain-type zoonotic visceral leishmaniasis based on the One Health concept. In addition to assessment of the effect of conventional mountain-type zoonotic visceral leishmaniasis control measures, this index system integrates the importance of top-level design, organizational management, and implementation of control measures, and includes indicators related to multi-sectoral cooperation.

Objective In this study，we performed two sampie Mendelian Randomization to infer a causal association between Gastroesophageal reflux(GERD) and Atrial fibrillation(AF)，it can effectively avoid the problems such as reverse causation and confounds in traditional epidemiology. Methods We used the Summary data of GERD and AF from published Genome wide association study(GWAS) of European Individuals. Single Nucleotide Polymorphisms (SNPs) were extracted as Instrumental Variables (IVs).The main MR methods include Inverse Variance [] Weighted(IVW)，Weighted Median(WME)，MR-Egger，Simple Mode，and Weighted Mode.In addition，we used the sensitivity analysis such as MR-PRESSO，Cochran's Q test etc. Results The IVW shows a causal association between GERD and AF(P<0.0001，OR=1.16，95%CI:1.10-1.23).The WME shows P＜0.0001，OR=1.20，95%CI:1.11-1.30；Simple Mode shows P=0.01，OR=1.34，95%CI:1.07-1.69；Weighted Mode shows P=0.02，OR=1.33，95%CI:1.06-1.66. Conclusion This study based on genetic data supports the causal association between GERD and AF. The occurrence of GERD could increase the risk of AF.

Objective:To evaluate the fetal heart shape and function in tetralogy of Fallot (TOF) by fetal heart quantitative analysis (fetal HQ).Methods:A total of 52 fetuses with TOF diagnosed by fetal echocardiography and 200 normal fetuses matched with their gestational weeks from March 2020 to March 2022 at Sir Run Run Shaw Hospital, Zhejiang University were retrospectively evaluated. The basic parameters of fetal cardiac blood vessels in the two groups were measured by fetal HQ technology and conventional M-mode ultrasound technology: aortic valve diameter(AV), pulmonary artery valve diameter(PV), main pulmonary artery diameter (MPA) and Z-score. The overall morphometric measurements including end-diastolic length diameter, transverse diameter, area, and global spherical index (GSI) of the fetal heart in the 4-chamber view(4CV), area and length of the right and left ventricles and their ratios. Measurements of left and right ventricular function included ejection fraction (EF), fraction area change rate (FAC), tricuspid annular plane systolic excursion (TAPSE), left and right ventricular global longitudinal strain (GLS), and left and right ventricular end-diastolic diameter (ED), spherical index (SI), and fractional shortening rate (FS) of 24-segments. The differences of above parameters between TOF group and control group were compared. In addition, the relationships between the absolute value of left and right ventricular GLS of TOF fetus and PV/AV, PV Z-score and MPA Z-score were analyzed. The optimal critical values of GSI, left ventricular EF and left ventricular FAC of TOF fetus were determined by ROC curve, and their corresponding sensitivity and specificity were obtained.Results:Compared with control group, there were significant differences in 4CV end-diastolic length, area, GSI, left ventricular area, left ventricular length, left ventricular EF, left ventricular FAC and left ventricular GLS in TOF group (all P<0.05). There were significant differences in ED between left ventricular 15-24 segments and right ventricular 1-21 segments (all P<0.05). There were significant differences in SI between left ventricular 1-16 segments, 21-24 segments and all segments of right ventricle (all P<0.05). The differences in FS were statistically significant (all P<0.05) when comparing all segments of the left ventricle and 1-2 segments of the right ventricular, and the remaining parameters were not statistically significant (all P>0.05). The left ventricular GLS absolute value of TOF fetuses was positively correlated with PV/AV, PV Z-score and MPA Z-score( rs=0.338, 0.441 and 0.458, all P<0.05), the right ventricular GLS absolute value of TOF fetuses was positively correlated with PV AV, PV Z-score and MPA Z-score( rs=0.418, 0.368 and 0.338, all P<0.05). The optimal critical values of GSI, left ventricular EF, and left ventricular FAC in the diagnosis of fetal TOF were 1.19, 59.05%, and 44.4%, respectively. At this time, the sensitivities of diagnosis of TOF were 0.78, 0.75, and 0.80, respectively. The specificities were 0.88, 0.88 and 0.83, respectively. The areas under ROC curve were 0.89, 0.88 and 0.89, respectively. Conclusions:Fetal HQ technology can provide a simple and reliable quantitative evaluation of fetal heart shape and function, and provide certain theoretical parameters for the study of fetal heart shape and function.

Pulmonary fibrosis (PF) is the pathological structure of incurable fibroproliferative lung diseases that are attributed to the repeated lung injury-caused failure of lung alveolar regeneration (LAR). Here, we report that repetitive lung damage results in a progressive accumulation of the transcriptional repressor SLUG in alveolar epithelial type II cells (AEC2s). The abnormal increased SLUG inhibits AEC2s from self-renewal and differentiation into alveolar epithelial type I cells (AEC1s). We found that the elevated SLUG represses the expression of the phosphate transporter SLC34A2 in AEC2s, which reduces intracellular phosphate and represses the phosphorylation of JNK and P38 MAPK, two critical kinases supporting LAR, leading to LAR failure. TRIB3, a stress sensor, interacts with the E3 ligase MDM2 to suppress SLUG degradation in AEC2s by impeding MDM2-catalyzed SLUG ubiquitination. Targeting SLUG degradation by disturbing the TRIB3/MDM2 interaction using a new synthetic staple peptide restores LAR capacity and exhibits potent therapeutic efficacy against experimental PF. Our study reveals a mechanism of the TRIB3-MDM2-SLUG-SLC34A2 axis causing the LAR failure in PF, which confers a potential strategy for treating patients with fibroproliferative lung diseases.

ObjectiveTo analyze the effects of different feeding patterns on the physical and nutritional status of children aged 6‒12 months， so as to provide reference for promoting scientific feeding and health development of infants and young children. MethodsChildren born between December 2019 and February 2020 and who had completed three follow-up visits at 6‒， 9‒ （8‒10 months） and 12‒ （11‒14 months） months old in all of the 13 communities of Minhang， Shanghai were selected. The subjects’ basic information was investigated by questionnaires. The indicators including feeding pattern， physical development （body weight， body length， head circumference） and nutritional status （the detection rate of overweight， obesity， low body weight， growth retardation， emaciation and iron deficiency anemia） were followed up in the outpatient department， with iron deficiency anemia only monitored at the 6‒ and 12‒ months old. According to different feeding patterns， the groups of 6‒ months old were divided into three groups of exclusive breast feeding （EBF）， mixed feeding （MF） and artificial feeding （AF）， while 9‒ and 12‒ months old were divided into MF and AF groups. The differences of basic information and follow-up results among the groups were analyzed. ResultsA total of 470 children were included， including 130 （27.66%）， 288 （61.28%） and 52 （11.06%） respectively in EBF， MF and AF groups at the 6‒ months old，and 319 （67.87%） and 196 （41.70%） in MF group at the 9‒ and 12‒ months old. There was no significant difference in the other follow-up results among the groups. The detection rate of iron deficiency anemia in 6‒ months old EBF （13.08%） was higher than that in MF group （5.90%） and AF group （1.92%） （χ²=8.40， P=0.010）， while it was still higher in 12‒ months old MF group （9.69%） than in AF group （2.92%） （χ²=9.68， P=0.002）. ConclusionThere is no significant difference in body weight，body length， head circumference， and the detection rates of overweight， obesity， low body weight， growth retardation and emaciation among the groups of different feeding patterns in the children aged 6‒12 months. The detection rate of iron deficiency anemia in the EBF and MF groups is significantly higher than that in the AF groups of children aged 6‒ and 12‒ months old.

A transcriptional regulatory network for wild-type and ATP7B-knockout HepG2 cells exposed to copper was constructed by bioinformatics methods to explore the potential mechanism of key transcription factors in the pathogenesis of hepatolenticular degeneration. The differentially expressed genes (DEGs) for wild-type and ATP7B-knockout HepG2 cell lines without copper and exposed to copper were collected from the gene expression omnibus (GEO) database. Gene ontology (GO) and Kyoto encyclopedia of genes and genomes (KEGG) enrichment analysis were performed for DEGs induced by copper. The key functional modules and genes were identified based on the protein-protein interaction (PPI) network. Moreover, the enrichment analysis of genes in functional modules was performed. Finally, a transcriptional regulatory network was constructed to screen the core transcription factors. A total of 1 034 genes, including 509 down-regulated genes and 525 up-regulated genes, were selected as DEGs. The up-regulated and down-regulated functional modules based on PPI network included 3 785 and 3 931 genes, respectively. Genes in key functional modules were enriched in cell-substrate junction, chromosomal region, spliceosomal complex and ribosome. They were involved in mRNA processing, histone modification, RNA splicing, regulation of DNA metabolic process, protein phosphorylation and other biological processes. Moreover, they were correlated to transcriptional coregulator activity, DNA-binding transcription factor binding, ubiquitin-like protein ligase binding and other molecular functions. KEGG analysis showed that genes in key functional modules were significantly enriched in hepatitis B, MAPK signaling pathway, cellular senescence and apoptosis, neurotrophin signaling pathway and pathways of neurodegeneration-multiple diseases. The transcriptional regulatory network contained 11 differentially expressed transcription factors and 96 DEGs. Among them, U2AF1, NFRKB, FUS, MAX, SRSF1, CEBPA and RXRA were the core transcription factors, which may facilitate the study of the biological function of relevant molecules in transcriptional regulation of hepatolenticular degeneration.
Humans ; Transcriptome ; Gene Expression Profiling/methods* ; Hepatolenticular Degeneration/genetics* ; Copper ; Gene Regulatory Networks ; Computational Biology/methods* ; Transcription Factors/genetics* ; DNA ; DNA-Binding Proteins/genetics* ; Serine-Arginine Splicing Factors/genetics*