Objective:To explore the value of magnetic resonance diffusion tensor imaging (DTI) in evaluating cerebrovascular small vessel disease (CSVD) in patients with systemic lupus erythematosus (SLE).Methods:Eighty-two patients with SLE combined with CSVD treated at Yixing People's Hospital from January to December 2022 were selected. They were divided into acute phase infarction group (16 cases), chronic phase infarction group (26 cases), and chronic ischemic lesion group (40 cases) based on routine MRI examination results. All patients underwent DTI examination to obtain the average diffusion coefficient (DCavg) and anisotropy score (FA) of the affected and contralateral normal white matter areas, and the evaluation value of DTI for CSVD in SLE patients was analyzed.Results:The DCavg value on the affected side of 82 patients was significantly higher than that on the healthy side: (11.10 ± 3.48) 10 -3 mm 2/s vs. (8.18 ± 2.42) 10 -3 mm 2/s, and the FA value on the affected side was significantly lower than that on the healthy side: 0.28 ± 0.05 vs. 0.45 ± 0.08, with a statistical significant differences ( P<0.05). The DCavg values of the acute infarction group, chronic infarction group, and chronic ischemic focus group were (11.88 ± 3.50), (9.69 ± 3.24) and (8.52 ± 2.34) 10 -3 mm 2/s, respectively, with statistical significant differences ( P<0.05). The FA values of the acute infarction group, chronic infarction group, and chronic ischemic focus group were 0.28 ± 0.04, 0.33 ± 0.06 and 0.40 ± 0.07, respectively, with statistical significant differences ( P<0.05). The receiver operating characteristic curve was drawn, and the results showed that the area under the curve (AUC) of the acute phase infarction group and the chronic phase infarction group evaluated by DCavg and FA alone and in combination were 0.757, 0.756, and 0.820, respectively. The AUC of the chronic phase infarction group and the chronic ischemic focus group evaluated by DCavg and FA were 0.772, 0.776, and 0.813, respectively. The AUC value of the combined evaluation was relatively large. Conclusions:DTI has good evaluation value for CSVD in SLE patients and can accurately determine the type of CSVD.

OBJECTIVE To explore the mechanism of steam-processed Polygonatum sibiricum polysaccharides(SPSP) in prophylaxis and treatment of mice with blood deficiency syndrome(BDS) by RNA sequencing(RNA-seq) technology. METHODS The mice were randomly divided into five groups(10 mice in each group), namely normal group, model group, SPSP groups(0.1, 0.4 g·kg−1), Danggui Buxue oral liquid(DOL) group. BDS model was induced in mice by acetylphenyl-hydrazine and cyclophosphamide. Blood routine, body weight and body temperature were tested after a consecutive administration for 14 d. The differential expressed genes(DEGs) related to anti-BDS by SPSP were screened through the transcriptome sequencing of the hepatic tissue in BDS mice. Functional annotation and enrichment analysis were performed to screen out the gene expression signaling pathways related to the treatment of SPSP on BDS mice. Quantitative polymerase chain reaction(qPCR) was used to verify the experiment. RESULTS Compared with the model group, SPSP(0.4 g·kg−1) could elevate the blood routine indexes such as red blood cell, white blood cell, hemoglobin, platelet, mean corpuscular hemoglobin concen-tration(P<0.01), and reverse the body weight and body temperature to normal(P<0.01 or P<0.05). The result of transcriptomic analysis showed that the underlying mechanism was mainly related to hematopoietic cell line, retinol metabolism, steroid hormone biosynthesis, platelet activation, B cell receptor signaling pathway, and leukocyte transendothelial migration, etc. The result of qPCR showed that SPSP(0.4 g·kg−1) could elevate the expression of JAK1, STAT1 and GATA1 mRNA (P<0.01 or P<0.05). CONCLUSION SPSP has therapeutic effects on BDS. The key DEGs in the treatment of BDS by SPSP are mainly related to the restoration of hematopoietic function, regulation of hormone and immune function. The mechanism of SPSP on treatment of BDS might be the regulation of JAK1/STAT1 signaling pathway.

Objective This study aimed to identify PAX9 variants in non-syndromic tooth agenesis families of Chi-na,as well as to analyze the genotype-phenotype of non-syndromic tooth agenesis caused by PAX9 variants,which can provide a basis for the genetic diagnosis of tooth agenesis.Methods We collected the data of 44 patients with non-syn-dromic oligodontia who underwent treatment at Stomatological Hospital of Hebei Medical University between 2018 and 2023.Whole-exome sequencing was performed on the peripheral blood of the proband and its core family members,and the variants were verified by Sanger sequencing.Pathogenicity analysis and function prediction of the variants were per-formed using bioinformatics tools.The correlation between the genotype of PAX9 variant and its corresponding pheno-type was examined by reviewing 55 publications retrieved from PubMed.The studies involved 232 tooth agenesis pa-tients with PAX9 variants.Results A novel PAX9 c.447delG(p.Pro150Argfs*62)and a reported PAX9 c.406C>T(p.Gln136*)were identified in two Chinese families.Through bioinformatics analysis and three-dimensional structural mod-eling,we postulated that the frameshift variant was pathogenic.The outcome was the premature cessation of PAX9 pro-tein,which caused severe structural and functional deficiencies.Summarizing the PAX9 genotype-phenotype relationship revealed that patients carrying the PAX9 variant commonly led to loss of the second molars.Conclusion We identified the novel PAX9 c.447delG(p.Pro150Argfs*62)in a Chinese family of non-syndromic oligodontia,expanding the known variant spectrum of PAX9.The most susceptible tooth position for PAX9 variants of tooth agenesis was the second mo-lars and the deciduous molars during the deciduous dentition.

Clostridium perfringens is a common Gram-positive anaerobic conditioned pathogen,widely existing in nature,which can cause diarrhea,gas gangrene,and other diseases.Antibiotics are used in the clinical treatment of Clostridium perfringens infection,but the bacteria will devel-op resistance through mutation,drug-resistant plasmid transmission,and other ways,so that Clos-tridium perfringens can survive under the environmental pressure of antibiotics.Therefore,it is very important to find and develop new preparations to replace antibiotics or as feed additives to target the removal of Clostridium perfringens from the body or to prevent infection.In this study,a virulent Clostridium perfringens phage vB_CPP_AT was isolated from sewage by double plate method.The morphology of the bacteriophage was observed by transmission electron microscope.The biological characteristics of the bacteriophage were analyzed by lytic spectrum,MOI,pH,and temperature tolerance.The results showed that the vB_CPP_AT belongs to the Podoviridae.It would grow explosively at 60 min with an optimal MOI of 0.1.The vB_CPP_AT only lyse Clos-tridium perfringens and the lytic rate was 40％(8/20).No cleavage reaction occurred with other bacteria tested.The phage had good thermal stability and acid-base tolerance.Genomic analysis re-vealed that the phage had double-stranded DNA with a total length of 16 790 bp,and 20 open read-ing frames.Genomic analysis of vBCPPAT showed that it was a new virulent phage of Clostridi-um perfringens.The results laid a foundation for the clinical treatment of Clostridium perfringens with phage.

Objective:To develop a Beijing norm of Memory and Executive Screening (MES) scale to facilitate its further promotion and application in the future.Methods:Study subjects were selected based on the inclusion and exclusion criteria, including patients who visited the memory clinic of Xuanwu Hospital of Capital Medical University from March 20, 2017 to January 6, 2021, and normal people recruited simultaneously from community, and trained and qualified investigators conducted questionnaire surveys through face-to-face interviews. Then strict quality control, data collection and statistical analysis were performed.Results:A total of 607 participants were included, including 239 normal people, 293 individuals with subjective cognitive decline (SCD), and 75 individuals with mild cognitive impairment (MCI). There was a negative correlation between the scores of MES and age ( r=-0.19, P<0.001), but a positive correlation between scores of MES and education level ( r=0.29, P<0.001). The optimal cut-off value of this scale in Beijing was 86 points, the area under curve (AUC) of the cut-off value to distinguish MCI was 0.847 (normal people vs MCI) and 0.826 (SCD vs MCI), and after adding demographic variables, AUC showed slight increase (0.847 to 0.850 and 0.826 to 0.847), whereas the differences were not statistically significant ( Znormal peoplevsMCI=0.49, ZSCDvsMCI=1.21, P>0.05). And there was no statistically significant difference between MES and Montreal Cognitive Assessment scales in diagnostic power for normal people and people with MCI ( Zscale alone=1.03, Zafter adding demographic variables=1.13, P>0.05). Conclusions:The MES scale has a better distinguishing power for MCI, and its optimal cut-off value in Beijing is 86 points, which is different from previous studies. In the future, the sample size needs to be further expanded to verify this norm.

OBJECTIVE: Utilize high-resolution chromosome analysis and microarray detection to determine the genetic etiology of infertility of a 32-year old female patient. METHODS: The peripheral blood of the patient was cultured for high-resolution chromosome G and C banding karyotype analysis, and then 750K SNP-Array chip detection was performed. RESULTS: Karyotype analysis results showed that the patient's karyotype was 45,XX,-13 [7]/46,XX,r(13) (p13q34) [185]/46,XX,dic r(13;13)(p13q34;p13q34) [14]/ 47,XX,+der(13;13;13;13) (p13q34;p13q34;p13q34; p13q34), dic r(13;13) [1]/ 46,XX [3]. The microarray results showed that the patient had a 3.3 Mb deletion in the 13q34 segment of chromosome 13, which may be related to infertility. CONCLUSION Infertility of the patient reported in this article may be related to the deletion of chromosome segment (13q34-qter).
Adult ; Chimera ; Chromosome Banding ; Chromosome Deletion ; Chromosome Disorders/genetics* ; Dacarbazine ; Female ; Humans ; Infertility/genetics* ; Ring Chromosomes

Objective To study the association between the single nucleotide polymorphism (SNP) of SEPT14 (rs77231105,rs10241628,rs11981883,rs73701167) and sporadic PD in Chinese Han populationin of Southwest Shandong.Methods One hundred and eighty PD patients from Southwest Shandong served as PD patient group and 200 healthy subjects from Southwest Shandong served as control group in this study.The distribution frequencies of alleles and genotypes in SNP of rs77231105,rs10241628,rs11981883 and rs73701167 were compared by PCR and sequencing respectively.Results No significant difference was found in the distribution frequencies of alleles and genotypes in rs77231105,rs10241628,rs11981883 between the two groups (P＞0.05).The distribution frequency of rs73701167 was significantly higher in PD patient group than in control group (31.1％ vs 20.5％,OR=1.75,95％CI=1.261-2.428,P=0.001).Conclusion The SNP of SEPT14 rs77231105,rs10241628 and rs1198188 are not associated with PD,the SNP of rs73701167 is associated with PD in Chinese Han population of Southwest Shandong.The allele C is a risk factor for PD.

Objective To investigate the phenotypes and genetics of an early-onset familial Alzheimer′s disease ( EO-FAD ) family.Methods The clinical manifestations , brain MRI results and neuropathological findings of the proband and pedigree members of the EO -FAD family were evaluated. Autopsy was performed in the proband . Results Fifteen members of this family had a presenilin 1 (PSEN1) p.G378E mutation and nine of them had clinical manifestations or the MRI changes of EO -FAD. Neuropathological findings from autopsy of the proband disclosed moderate cortical atrophy throughout the brain, especially in frontal lobe and temporal lobe .Neuronal loss with gliosis was observed in the cortices of the frontal, temporal and occipital lobes , as well as in parahippocampal gyrus .Numerous senile plaques and neurofibrillary tangles were present in the cerebral cortex .The proband′s younger sister showed similar clinical presentations and MRI changes , and other members of this family demonstrated progressive memory loss.Conclusion A p.G378E mutation in the PSENl gene was identified in a Chinese EO-FAD pedigree.

Objective To investigate the current situation in Chinese rheumatologic physicians' clinical diagnosis and evaluation of Takayasu's arteritis (TA).Methods Nineteen rheumatology experts and three vascular surgery specialists in China were invited to make the nationwide investigation for the first time about the diagnosis and disease activity evaluation of TA in China,through the questionnaire survey on the internet.Weighted average was used to calculate the average scores of corresponding problems.Results Chinese experts mainly adopted 1990 American College of Rheumatology (ACR) classification criteria for clinical diagnosis of TA.In details,symptoms of age,limb claudication and amaurosis,signs including pulselessness or pulse weakening,vascular bruits,increasing bilateral pulse pressure and hypertension and acute phase reactants (APR) were critical to the clinical diagnosis of TA.Besides,noninvasive imaging examinations,such as computed tomography angiography (CTA),magnetic resonance angiography (MRA),vascular ultrasonography,and positron emission tomography (PET) were also of great importance.In the aspect of disease activity assessment,Chinese experts mainly used Kerr scoring tool.APR and noninvasive radiological examinations were considered with vital value.Some TA patients with carotid artery involvement were recommended using vascular ultrasonography,while others with pulmonary artery and thoracic/abdominal aorta trunk involvement were preferred CTA other than MRA.Conclusions APR and noninvasive imaging examinations were thought with great help to make clinical diagnosis and evaluation of TA for Chinese physicians.

Objective To determine the expression profile of serum microRNAs(miRNAs) in early-onset familial Alzheimer's disease (EO-FAD) patients. methods miRNA microarrays were performed to detect the expression profile of serum miRNAs in 2 cases of EO-FAD patients,2 cases of EO-FAD carriers and 2 cases of normal controls.Preliminary bioinformatic analysis was conducted. Result sIt was found that 21 miRNAs were up-regulated and 22 miRNAs were down-regulated in serum of EO-FAD patients,the differences were statistically significant(P<0.05).miR-5704(P=0.0002),miR-4639-3p(P=0.0195),miR-107(P=0.0204) were markedly up-regulated,miR-5572(P=0.0008),miR-204-3p(P=0.0014),miR-542-5p(P=0.0106) and miR-155-5p(P=0.0240) were markedly down-regulated.Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis suggested that the dysregulated miRNAs may be involved in the mechanism of EO-FAD by affecting neurotrophin signaling pathway.Conclusion miR-5704,miR-4639-3p,miR-107,miR-5572,miR-204-3p,miR-542-5p and miR-155-5p may be used as potential biomarkers of EO-FAD,and involved in the mechanism of EO-FAD by affecting neurotrophin signaling pathway.