OBJECTIVE To explore the effects of isorhamnetin on the development of gastric cancer through up-regulation of solute carrier family 25 member 25 antisense RNA 1（SLC25A25-AS1）. METHODS Using BALB/c nude mice as the subjects， the xenograft tumor model was established by subcutaneously inoculating human gastric cancer MKN28 cells into the axillary region. The effects of low and high doses of isorhamnetin （20 and 40 mg/kg） on the tumor volume and mass in nude mice were investigated. MKN28 cells were selected and divided into control group， isorhamnetin group （70 μmol/L， similarly hereinafter）， isorhamnetin+knocking down negative control group， isorhamnetin+knocking down SLC25A25-AS1 group， isorhamnetin+ overexpression negative control group and isorhamnetin+overexpressing SLC25A25-AS1 group. Effects of knocking down/ overexpressing SLC25A25-AS1 on viability， apoptosis， migration and invasion ability of isorhamnetin-treated cells were detected. After verifying the targeting relationships between microRNA-212-3p （miR-212-3p） and SLC25A25-AS1， as well as phosphatase and tensin homologue deleted on chromosome 10 （PTEN）， the effects of knocking down/overexpressing SLC25A25-AS1 on the expression of miR-212-3p， PTEN mRNA， and PTEN protein in isorhamnetin-treated cells were investigated. RESULTS Compared with the model control group， tumor volume and mass of nude mice in the isorhamnetin low-dose and high-dose groups were reduced significantly， and the isorhamnetin high-dose group was significantly lower than the isorhamnetin low-dose group （P＜0.05）. miR-212-3p had targeting relationships with SLC25A25-AS1 and PTEN. Compared with the control group， the cell viability （intervened for 24， 48 h）， migration number， invasion number and miR-212-3p expression of cells in the isorhamnetin group， isorhamnetin+knocking down negative control group and isorhamnetin+overexpressing negative control group were significantly reduced or decreased or down-regulated， while the apoptosis rate， mRNA and protein expressions of PTEN were significantly increased or up-regulated （P＜0.05）. Compared with isorhamnetin group and isorhamnetin+knocking down negative control group， the cell viability， migration number， invasion number and miR-212-3p expression of cells in the isorhamnetin+knocking down SLC25A25-AS1 group were significantly increased or up- regulated， while the apoptosis rate， mRNA and protein expressions of PTEN were significantly reduced or down-regulated （P＜ 0.05）. Compared with isorhamnetin group and isorhamnetin+overexpressing negative control group， the cell viability， migration number， invasion number and miR-212-3p expression of cells in isorhamnetin+overexpressing SLC25A25-AS1 group were significantly reduced or decreased or down-regulated， while the apoptosis rate， PTEN mRNA and protein expressions were significantly increased or up-regulated （P＜0.05）. CONCLUSIONS Isorhamnetin may inhibit the development of gastric cancer by up-regulating the expression of SLC25A25-AS1， down-regulating miR-212-3p， and up-regulating the expression of PTEN， which is a downstream target of miR-212-3p.

Objective To investigate the mechanism of E26 transformation-specific sequence 4(ETV4)affecting the proliferation and migration of colon cancer cells through the nuclear factor-κB(NF-κB)signaling pathway.Methods The expression level of ETV4 in normal colon tissues and cancer tissues was analyzed by the user-friendly interactive cancer transcriptome data analysis resource(UALCAN)database.Reverse transcription quantitative polymerase chain reaction(qRT-PCR)and Western blot were used to detect the expression level of ETV4 in normal intestinal epithelial cells and colon cancer cell lines.After silencing ETV4 in SW480 cells,qRT-PCR and Western blot were per-formed to detect the expression of ETV4 to assess transfection efficiency;colony formation and Tran-swell assays were conducted to explore the effects of ETV4 silencing on the proliferation and migration of colon cancer cells;the Western blot was used to detect the effects of ETV4 silencing on the protein expression of protein 65(p65)and phosphorylated protein 65(p-p65)in the NF-κB pathway.Results The UALCAN database analysis revealed high expression of ETV4 in colon cancer tissues.The qRT-PCR and Western blot showed that ETV4 expression was significantly higher in the colon cancer cell lines SW480,Lovo,Caco-2,and SW620 than in normal intestinal epithelial cells HIEC-6,with the highest expression in SW480 cells(P＜0.001).Colony formation and Transwell assay results indicated that silencing ETV4 significantly inhibited the proliferation and migration of colon cancer SW480 cells(P＜0.001).Western blot results showed that silencing ETV4 significantly inhibited the expression of p-p65 protein in the cells(P＜0.001).Conclusion Silencing ETV4 may inhibit the activation of the NF-κB signaling pathway,thereby inhibiting the proliferation and migration of colon cancer cells.

OBJECTIVE: To explore the clinical features of a child with Lamb-Shaffer syndrome (LAMSHF) due to a variant of SOX5 gene. METHODS: A child who was admitted to Children's Hospital Affiliated to Zhengzhou University in July 2022 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing (WES) was carried out on peripheral blood samples from the child and his parents, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The study has been approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-100). RESULTS: The child, an one-year-and-seven-month-old male, has manifested delayed development in speech and language, intelligence and movement, in addition with mild facial deformities and eye signs. Whole exome sequencing revealed that he has harbored a heterozygous c.1828_1829insGACT (p.Y610fs*1) frameshifting variant of the SOX5 gene. Sanger sequencing confirmed the variant to be de novo in origin. The variant was also unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_supporting). CONCLUSION The c.1828_1829insGACT (p.Y610fs*1) variant of the SOX5 gene probably underlay the pathogenesis of LAMSHF in this child. For children with delayed mental, language, intellectual, and motor development, genetic testing should be conducted to facilitate early diagnosis. Above finding has enriched the mutational spectrum of the SOX5 gene.
Humans ; SOXD Transcription Factors/genetics* ; Male ; Infant ; Exome Sequencing ; Genetic Testing ; Mutation

OBJECTIVE: To explore the clinical features, genetic characteristics in a child with Miller-McKusick-Malvaux syndrome (3MS) type 1 caused by CUL7 gene variant. METHODS: A child diagnosed with 3MS type 1 at the Children's Hospital Affiliated to Zhengzhou University in February 2021 was selected as the subject of this study. Peripheral blood samples were collected from the child and her parents for genomic DNA extraction. Whole exome sequencing (WES) was performed on the child, and Sanger sequencing was used to validate the candidate variants and analyze their pathogenicity. A literature search was conducted using the keywords "3M syndrome" in the China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, and PubMed databases from inception to December 2024. The clinical data of Chinese children with 3MS reported in the literature were summarized. This study was approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-020). RESULTS: The child was a 6-year-old and 2-month-old female with facial dysmorphism, skeletal abnormalities, and growth and developmental delay. WES revealed compound heterozygous variants in the CUL7 gene: c.2686G>T (p.E896*) and c.1200delT (p.R401Gfs66). Sanger sequencing confirmed that these two variants were inherited from the child's father and mother, respectively. According to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants, c.2686G>T (p.E896) was classified as a pathogenic (PVS1+PM2_Supporting+PM3), and c.1200delT (p.R401Gfs*66) was classified as a likely pathogenic (PVS1+PM2_Supporting). Based on the literature search strategy, 18 relevant articles were identified, including a total of 32 Chinese cases of 3MS, of which 8 were fetuses. A total of 32 Chinese 3MS cases were included in the literature review, of which 8 were fetuses. The majority of these cases carried variants in the CUL7 gene (20/32, 62.5%) and OBSL1 gene (12/32, 37.5%). The main clinical manifestations included intrauterine or postnatal growth and developmental delay (32/32, 100.0%), triangular facies (27/32, 84.3%), and skeletal abnormalities (21/32, 65.6%). CONCLUSION The compound heterozygous variants c.2686G>T (p.E896*) and c.1200delT (p.R401Gfs*66) in the CUL7 gene are likely the genetic cause of 3MS type 1 in the child. For children presenting with facial dysmorphism, skeletal abnormalities, and intrauterine or postnatal growth and developmental delay, 3MS should be considered as a differential diagnosis.
Humans ; Cullin Proteins/genetics* ; Female ; Child ; Limb Deformities, Congenital/genetics* ; Exome Sequencing ; Mutation ; Child, Preschool ; Dwarfism ; Muscle Hypotonia ; Spine/abnormalities*

Objective: The main objective of this study was to analyze the efficacy and feasibility of surgical management for patients with thoracic spinal tuberculous spondylitis (STB) by using posterior-only transforaminal debridement and interbody fusion (PTDIF) with preservation of posterior ligamentous complex (PLC) and noninferior of PTDIF compared with conventional posterior-only debridement and interbody fusion (CPDIF). Methods: From January 2019 to January 2022, a prospective, randomized, controlled trial was conducted in which patients with thoracic STB were enrolled and assigned to undergo either the PTDIF group (group A) or CPDIF group (group B) in a 1:1 ratio. The clinical efficacy was evaluated on average operation time, blood loss, hospitalization durations, visual analogue scale, Oswestry Disability Index scores, erythrocyte sedimentation rate (ESR), C-Reactive protein (CRP), and neurological function recovery using the American Spinal Injury Association’s impairment scale and operative complications. Radiological measurements included kyphosis correction, loss of correction. The outcomes were compared between the groups at preoperation, postoperaion, and final follow-up. Results: All 65 patients were completely cured during the follow-up. The intraoperative blood loss and operation time in group B were more than that in group A. All patients were pain-free at the final follow-up visit. ESR, CRP returned to normal limits in all patients 3 months after surgery. All patients had improved neurological signs. No significant difference was found in kyphosis angle correction, loss of correction between the 2 groups. Conclusion PTDIF, with preservation of PLC, achieved debridement, decompression, and reconstruction of the spine’s stability, similar to CPDIF in the surgical treatment of thoracic STB. PTDIF has less surgical trauma with less intraoperative blood loss and operation time.

Objective To investigate the impact of Atractylodin on lung tissue damage in young asthmatic rats by regulating the CXC chemokine ligand 12(CXCL12)/CXC chemokine receptor 4(CXCR4)signaling pathway.Methods Twelve young SD rats were randomly selected from 60 rats as the control group(CON group),while the remaining 48 rats were used to construct asthma models using ovalbumin(OVA).Successfully modeled asthma rats were randomly separated into Model group,Atractylodin group(50 mg/kg Atractylodin),and CXCL-12 group(5 μ g/kg recombinant CXCL-12 protein)and Atractylodin+CXCL-12 group(50 mg/kg Atractylodin+5 μ g/kg recombinant CXCL-12 protein),with 12 in each group,continuously administered for 14 days.The CON and Model groups were given equal amounts of physiological saline.The percentages of neutrophils and eosinophils in bron-choalveolar lavage fluid(BALF)were detected.ELISA method was applied to detect cytokine levels in serum and BALF fluid;HE staining was applied to detect pathological changes in lung tissue;Western blot was applied to detect the levels of CXCL12/CXCR4 pathway related proteins.Results Compared with the CON group,the pathological score of lung tissue,percentage of neutrophils,percentage of eosinophils,the levels of IL-17,IL-4,IL-5,IL-13,IgE,OVA sIgE,and the protein levels of CXCL12 and CXCR4 in Model group were obviously increased(P<0.05);compared with the Model group,the pathological score of lung tissue,percentage of neutro-phils,percentage of eosinophils,the levels of IL-17,IL-4,IL-5,IL-13,IgE,OVA sIgE,and the protein levels of CXCL12 and CXCR4 in the Atractylodin group were obviously reduced(P<0.05),the results in the CXCL-12 group were opposite to those in the Atractylodes group;CXCL-12 eliminated the improvement effect of atractylodes on asthma rats.Conclusion Atractylodin may improve lung tissue damage in asthmatic rats by down-regulating the CXCL12/CXCR4 signaling pathway.

Objective To explore the characteristics of response inhibition of military university students during multitasking operation. Methods Repeated measures of ANOVA as well as distribution test were employed to explore how the performance of 127 military university students in Go/No-Go test was affected by simulated driving task. Results The test results of 127 participants showed that there was a interaction between the interference task and the Go trial proportion on the hit rate and false alarm rate,that is,no significant difference was observed between the 60％ and 40％ of trial proportion without interference task (both P>0.05),but the hit rate and false alarm rate in the 60％ trial proportion condition were significantly higher than those in the 40％ trial proportion condition under interference task (both P<0.01).In addition,significant main effects of interference task were observed on hit rate,false alarm rate,and discrimination index d' (all P<0.01),that is,the interference task reduced the hit rate and discrimination,but increased the false alarm rate.Moreover,individual differences existed in the discrimination index d' changes,and the participants were divided into easily disturbed group (n=23,18.11％),undisturbed group (n=20,15.75％),and intermediate group (n=84,66.14％) by adding or subtracting 1 standard deviation from the mean of the difference. Conclusion The interference tasks increase the psychological load of military university students during multitasking operation,and impair the response inhibition;and individual differences exist in response inhibition.

Frontotemporal dementia (FTD) is a group of dementia diseases mainly characterized by progressive mental-behavioral abnormalities, executive dysfunction, and language impairment. A small number of FTD patients also present with movement disorders at certain disease course. Here the clinical and multimodal positron-emission tomography (PET) imaging manifestations in a patient with frontotemporal lobe dementia and parkinsonian syndrome are reported. 18F-fluorodopa PET showed reduced uptake in the head of the caudate nucleus. 18F-AV-45 PET showed negative amyloid deposition. 18F-AV-1451 PET showed tau deposition in the neocortex. The clinical and neuroimaging features support the underlying frontotemporal lobar degeneration-tau pathology.

Objective: The main objective of this study was to analyze the efficacy and feasibility of surgical management for patients with thoracic spinal tuberculous spondylitis (STB) by using posterior-only transforaminal debridement and interbody fusion (PTDIF) with preservation of posterior ligamentous complex (PLC) and noninferior of PTDIF compared with conventional posterior-only debridement and interbody fusion (CPDIF). Methods: From January 2019 to January 2022, a prospective, randomized, controlled trial was conducted in which patients with thoracic STB were enrolled and assigned to undergo either the PTDIF group (group A) or CPDIF group (group B) in a 1:1 ratio. The clinical efficacy was evaluated on average operation time, blood loss, hospitalization durations, visual analogue scale, Oswestry Disability Index scores, erythrocyte sedimentation rate (ESR), C-Reactive protein (CRP), and neurological function recovery using the American Spinal Injury Association’s impairment scale and operative complications. Radiological measurements included kyphosis correction, loss of correction. The outcomes were compared between the groups at preoperation, postoperaion, and final follow-up. Results: All 65 patients were completely cured during the follow-up. The intraoperative blood loss and operation time in group B were more than that in group A. All patients were pain-free at the final follow-up visit. ESR, CRP returned to normal limits in all patients 3 months after surgery. All patients had improved neurological signs. No significant difference was found in kyphosis angle correction, loss of correction between the 2 groups. Conclusion PTDIF, with preservation of PLC, achieved debridement, decompression, and reconstruction of the spine’s stability, similar to CPDIF in the surgical treatment of thoracic STB. PTDIF has less surgical trauma with less intraoperative blood loss and operation time.

Objective: The main objective of this study was to analyze the efficacy and feasibility of surgical management for patients with thoracic spinal tuberculous spondylitis (STB) by using posterior-only transforaminal debridement and interbody fusion (PTDIF) with preservation of posterior ligamentous complex (PLC) and noninferior of PTDIF compared with conventional posterior-only debridement and interbody fusion (CPDIF). Methods: From January 2019 to January 2022, a prospective, randomized, controlled trial was conducted in which patients with thoracic STB were enrolled and assigned to undergo either the PTDIF group (group A) or CPDIF group (group B) in a 1:1 ratio. The clinical efficacy was evaluated on average operation time, blood loss, hospitalization durations, visual analogue scale, Oswestry Disability Index scores, erythrocyte sedimentation rate (ESR), C-Reactive protein (CRP), and neurological function recovery using the American Spinal Injury Association’s impairment scale and operative complications. Radiological measurements included kyphosis correction, loss of correction. The outcomes were compared between the groups at preoperation, postoperaion, and final follow-up. Results: All 65 patients were completely cured during the follow-up. The intraoperative blood loss and operation time in group B were more than that in group A. All patients were pain-free at the final follow-up visit. ESR, CRP returned to normal limits in all patients 3 months after surgery. All patients had improved neurological signs. No significant difference was found in kyphosis angle correction, loss of correction between the 2 groups. Conclusion PTDIF, with preservation of PLC, achieved debridement, decompression, and reconstruction of the spine’s stability, similar to CPDIF in the surgical treatment of thoracic STB. PTDIF has less surgical trauma with less intraoperative blood loss and operation time.