OBJECTIVE: To investigate the genetic etiology of a fetus diagnosed with Mandibulofacial dysostosis with microcephaly (MFDM). METHODS: A fetus that underwent prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, on May 19, 2025 was selected for analysis. Results of fetal ultrasound findings, chromosomal karyotyping, copy number variation sequencing (CNV-seq), and whole-exome sequencing (WES) were collected. Sanger sequencing was performed for familial validation of the pathogenic variant. The Human Protein Atlas (HPA), STRING, and Simple ClinVar databases were queried to characterize the biological features of the candidate gene. Three-dimensional structures of the wild-type and variant proteins were modeled and analyzed, and the evolutionary conservation of the affected amino acid was assessed using UGENE. Prenatal phenotypes associated with EFTUD2 variants were summarized through a review of the literature. This study was approved by the Ethics Committee of Beijing Obstetrics and Gynecology Hospital, Capital Medical University (Ethics No.: 2025-KY-029-01). RESULTS: At 23⁺² weeks of gestation, ultrasound examination revealed bilateral microtia with low-set ears, mild micrognathia with a reduced mandibular-facial angle, a single umbilical artery, a slightly narrow aortic diameter, and trivial mitral regurgitation. Amniotic fluid karyotyping and CNV-seq showed no abnormalities. WES identified a de novo, previously unreported EFTUD2 variant, c.698dupA (p.V235Gfs*27), in the fetus. This frameshift variant is predicted to alter the structural integrity of the EFTUD2 protein. Literature review indicated that micrognathia and microtia or low-set ears are the most common sonographic features in fetuses with EFTUD2 variants, while secondary findings may include abnormal stomach bubble, cleft palate, single umbilical artery, gastrointestinal atresia, polyhydramnios, and reduced aortic diameter. CONCLUSION The EFTUD2: c.698dupA (p.V235Gfs*27) variant is likely the genetic cause underlying MFDM in this fetus.
Humans ; Mandibulofacial Dysostosis/diagnostic imaging* ; Microcephaly/diagnostic imaging* ; Female ; Pregnancy ; Ribonucleoprotein, U5 Small Nuclear/chemistry* ; Peptide Elongation Factors/chemistry* ; Fetus ; DNA Copy Number Variations/genetics* ; Adult ; Ultrasonography, Prenatal

The aim of this study was to identify the Salmonella strains isolated from an outbreak of foodborne illness in a seafood buffet restaurant and analyze their pathogenic characteristics.Epidemiological data,fecal samples from patients and chefs,and food/environmental samples from the restaurant were analyzed.Research methods included bacterial culture,serotyping,quadruple fluo-rescence PCR identification,whole-genome sequencing and antibiotic susceptibility testing.The results showed that 4 S.Java strains(serotype 1,4,12∶b∶1,2;ST42)were isolated from two outbreak cases and two sporadic cases.All isolates exhibited similar genomic features,harboring 9 virulence islands and 98 virulence genes.Antimicrobial resistance profiling revealed streptomycin monoresis-tance,mediated by aac(6′)-Iy and aac(6′)-Iaa genes.In conclusion,this event was the first reported outbreak of foodborne illness caused by S.Java in China,indicating that S.Java may be prevalent in the surveyed district.The catering industry should optimize food handling and processing procedures and enhance the surveillance of high risk pathogens.Meanwhile,further studies should ad-dress differential diagnosis and pathogenic mechanism differences between S.Java and S.paratyphi B,which will facilitate evidence-based monitoring in China.

Aim To investigate the effects of circ_0071653 targeting miR-197-3p on the proliferation and metastasis of esophageal squamous cell carcinoma(ES-CC)cells.Methods The circular structure of circ_0071653 was confirmed by Sanger sequencing and ribo-nuclease R tolerance experiments.Real-time quantita-tive polymerase chain reaction(RT-qPCR)and tissue fluorescence in situ hybridization assay were performed to detect the circ_0071653 expression levels and ana-lyze its clinical relevance.Cell fluorescence in situ hy-bridization and nuclear cytoplasmic separation assays were used to verify the subcellular localization of circ_0071653 and miR-197-3p.Bioinformatics analysis,dual luciferase reporter gene and RT-qPCR assays were conducted to validate the interactions between circ_0071653 and miR-197-3p.Moreover,the cell counting Kit-8(CCK-8),colony formation,scratch,Transwell invasion and subcutaneous tumor formation in nude mice assays were used to evaluate the effects of circ_0071653 and miR-197-3p on cell viability,prolifera-tion,migration,and invasion and in vivo tumorigenesi-sability.Results Circ_0071653 was a circular RNA,which showed high expression in ESCC cell lines and tissues.The expression of circ_0071653 was signifi-cantly correlated with lymph node metastasis and clini-cal stage of ESCC patients.Circ_0071653 and miR-197-3p were mainly localized in the cytoplasm.The databases predict that circ_0071653 had complementa-ry binding sites with miR-197-3p,and their binding were confirmed by dual luciferase reporter geneand RT-qPCR assays.Moreover,the activity,proliferation,migration,invasion and in vivo tumorigenesis abilities of ESCC cells were significantly reduced after knocking down circ_0071653,and this effect could be reversed by downregulating the expression of miR-197-3p.Con-clusions Circ_0071653 promotes the malignant pro-gression of ESCC through targeted regulation of miR-197-3p.

Objective To analyze the influencing factors of chronic atrophic gastritis diagnosed by gastroscopy based on living habits and cytochrome P4501A1(CYP1A1)gene polymorphism.Methods A total of 118 patients with chronic atrophic gastritis diagnosed by gastroscopy in our hospital from May 2023 to May 2024 were included in the chronic atrophic gastritis group,and another 120 patients with chronic non-atrophic gastritis diagnosed by gastroscopy during the same period were included in the chronic non-atrophic gastritis group.Clinical data,lifestyle,gastroscopy and CYP1A1 gene polymorphism were compared between the two groups.The risk factors of chronic atrophic gastritis diagnosed by gastroscopy were analyzed by multivariate Logistic regression,and the regression equation was established.Receiver operating characteristic curve(ROC curve)was drawn to analyze the predictive value of the regression equation for the diagnosis of chronic atrophic gastritis by gastroscopy.Results Multivariate Logistic analysis showed that Helicobacter pylori infection,family history of gastritis,fast eating,hot eating,insomnia,CYP1A1 genotype G/G were the risk factors for the diagnosis of chronic atrophic gastritis by gastroscopy(P<0.05).The above factors were included in the regression equation:Logit(P)=-8.252+Helicobacter pylori infection×0.741+family history of gastritis×0.636+fast food×0.595+hot food×0.754+insomnia×0.791+CYP1A1 genotype G/G×0.752.According to the regression equation,ROC curve was drawn to predict the occurrence of chronic atrophic gastritis diagnosed by gastroscopy.The results showed that when Logit(P)>0.727,the sensitivity was 87.29%,the specificity was 86.67%,and the area under the curve(AUC)was 0.922.Conclusion The influencing factors of chronic atrophic gastritis diagnosed by gastroscopy include Helicobacter pylori infection,family history of gastritis,fast food,hot food,insomnia,CYP1A1 genotype G/G,the establishment of the regression equation is effective,which can lay a foundation for screening high-risk patients and formulating preventive interventions.

Objective:To observe the application effect of dexmedetomidine in brain tumor resection surgery.Methods:60 patients who underwent brain tumor resection surgery in our hospital from September 2023 to September 2024 were selected,the patients were randomly divided into reference group(conventional anesthesia,n=30)and experimental group(reference group combined with dexmedetomidine,n=30)used random number table method.Neuron specific enolase(NSE),blood glucose,hemodynamic indicators[mean arterial pressure(MAP)and heart rate(HR)]between the two groups were compared,the recovery time,intraoperative opioid use,sedative level,extubation time,and occurrence of adverse reactions between the two groups were observed.Results:Compared with the time point of intubation(T1),MAP in the reference group decreased sequentially from the time point of beginning of surgery(T2)to the time point of skull drilling(T3)(P＜0.05).Compared with the end of surgery(T5),the MAP at time point of after returning to the intensive care unit(T6)in the reference group increased(P＜0.05).MAP in the experimental group decreased sequentially from the time point of before anesthesia induction(T0)to T2(P＜0.05).Compared with the time point of T5,MAP in the experimental group at time point of T6 increased(P＜0.05).MAP in the experimental group at time points of T1-T3 and T6 was lower than that in the reference group(P＜0.05).HR in the reference group at time points of T0～T2 first increased and then decreased(P＜0.05),Compared with HR at time point of T5,HR at time point of T6 in the reference group increased(P＜0.05).Compared with the time point of T1,HR in the experimental group decreased first and then increased from the time point of T2 to T3(P＜0.05).Compared with HR at time point of T5,HR at time point of T6 in the experimental group increased(P＜0.05).HR in the experimental group at time points of T1 to after tumor resection(T4)and T6 were lower than those in the reference group(P＜0.05).NSE levels increased in both groups at time points of T5,but the experimental group was lower than that in the control group(P＜0.05).Compared with the blood glucose at time point of T0 in the same group,the blood glucose at time point of T5 in the reference group increased,while the blood glucose at time point of T5 in the experimental group decreased,and the blood glucose at time point of T5 in the experimental group was lower than that in the reference group(P＜0.05).There was no significant difference in the recovery time,extubation time,and postoperative Ramsay score between the two groups(P＞0.05),but the dosage of remifentanil in the experimental group was lower than that in the reference group(P＜0.05).The overall incidence of adverse reactions in the experimental group was lower than that in the reference group(P＜0.05).Conclusion:The application of dexmedetomidine in patients undergoing brain tumor resection surgery can stabilize the hemodynamics of patients,inhibit the stress response,and significantly reduce the dosage of remifentanil and the risk of adverse reactions.It has good sedative effect and safety.

The aim of this study was to identify the Salmonella strains isolated from an outbreak of foodborne illness in a seafood buffet restaurant and analyze their pathogenic characteristics.Epidemiological data,fecal samples from patients and chefs,and food/environmental samples from the restaurant were analyzed.Research methods included bacterial culture,serotyping,quadruple fluo-rescence PCR identification,whole-genome sequencing and antibiotic susceptibility testing.The results showed that 4 S.Java strains(serotype 1,4,12∶b∶1,2;ST42)were isolated from two outbreak cases and two sporadic cases.All isolates exhibited similar genomic features,harboring 9 virulence islands and 98 virulence genes.Antimicrobial resistance profiling revealed streptomycin monoresis-tance,mediated by aac(6′)-Iy and aac(6′)-Iaa genes.In conclusion,this event was the first reported outbreak of foodborne illness caused by S.Java in China,indicating that S.Java may be prevalent in the surveyed district.The catering industry should optimize food handling and processing procedures and enhance the surveillance of high risk pathogens.Meanwhile,further studies should ad-dress differential diagnosis and pathogenic mechanism differences between S.Java and S.paratyphi B,which will facilitate evidence-based monitoring in China.

Aim To investigate the effects of circ_0071653 targeting miR-197-3p on the proliferation and metastasis of esophageal squamous cell carcinoma(ES-CC)cells.Methods The circular structure of circ_0071653 was confirmed by Sanger sequencing and ribo-nuclease R tolerance experiments.Real-time quantita-tive polymerase chain reaction(RT-qPCR)and tissue fluorescence in situ hybridization assay were performed to detect the circ_0071653 expression levels and ana-lyze its clinical relevance.Cell fluorescence in situ hy-bridization and nuclear cytoplasmic separation assays were used to verify the subcellular localization of circ_0071653 and miR-197-3p.Bioinformatics analysis,dual luciferase reporter gene and RT-qPCR assays were conducted to validate the interactions between circ_0071653 and miR-197-3p.Moreover,the cell counting Kit-8(CCK-8),colony formation,scratch,Transwell invasion and subcutaneous tumor formation in nude mice assays were used to evaluate the effects of circ_0071653 and miR-197-3p on cell viability,prolifera-tion,migration,and invasion and in vivo tumorigenesi-sability.Results Circ_0071653 was a circular RNA,which showed high expression in ESCC cell lines and tissues.The expression of circ_0071653 was signifi-cantly correlated with lymph node metastasis and clini-cal stage of ESCC patients.Circ_0071653 and miR-197-3p were mainly localized in the cytoplasm.The databases predict that circ_0071653 had complementa-ry binding sites with miR-197-3p,and their binding were confirmed by dual luciferase reporter geneand RT-qPCR assays.Moreover,the activity,proliferation,migration,invasion and in vivo tumorigenesis abilities of ESCC cells were significantly reduced after knocking down circ_0071653,and this effect could be reversed by downregulating the expression of miR-197-3p.Con-clusions Circ_0071653 promotes the malignant pro-gression of ESCC through targeted regulation of miR-197-3p.

Objective:To explore the clinical features of Brucellar myelitis and diagnosis and treatment of secondary neuromyelitis optica spectrum disorder (NMOSD), and enhance the awareness of clinicians about this disease.Methods:A retrospective study was performed; 13 patients with Brucellar myelitis admitted to Department of Neurology, Inner Mongolia Autonomous Region People's Hospital from January 2020 to December 2024 were chosen. Clinical data were collected, and MRI images and serological changes during the infection period were observed. Serum and cerebrospinal fluid demyelinating antibody markers and cerebrospinal fluid oligoclonal bands (OCBs) in the suspected secondary inflammatory demyelinating diseases of the central nervous system patients were detected. All patients received standard antibiotic treatment and/or individualized immunotherapy depending on disease severity. The patients were followed up for 24 (12, 42) months. At the last follow-up, the neurological outcomes were evaluated using modified Rankin scale (mRS, scores of 0-2: good prognosis; scores of 3-6: poor prognosis).Results:(1) Among the 13 patients, 12 had motor disorder, 9 had bladder/bowel dysfunction, 7 had sensory abnormality, and 4 had other symptoms such as dizziness, behavioral changes, or unsteady gait. (2) MRI results showed that 8 patients had spinal cord abnormalities, including 2 with long-segment intramedullary high signal at T2-weighted image and 6 with short-segment local intramedullary high signal at T2-weighted image. Enhanced MRI was performed in 11 patients, with 2 showing lesion enhancement, 3 showing meningeal enhancement, and 6 showing no enhancement. (3) Four patients had elevated cerebrospinal fluid pressure (>180 mmH 2O); 9 patients had elevated cerebrospinal fluid protein level (>0.45 g/L). Brucella-specific DNA was detected in the cerebrospinal fluid of 6 patients. One patient was positive for OCB type II. One patient was positive for aquaporin 4 antibody (AQP4-IgG) in both serum and cerebrospinal fluid, and one patient was double positive for myelin oligodendrocyte glycoprotein antibody (MOG-IgG) and AQP4-IgG in serum. (4) All 13 patients received standard antibiotic treatment; 12 patients received immunotherapy. (5) Among the 4 patients with poor prognosis, 3 died and the remaining 9 had a good prognosis. The mRS score decreasing from 4 (3, 4) at admission to 2 (2, 3) at the last follow-up, showing an overall improvement in neurological function. (6) Among the 13 patients, 2 were diagnosed as having Brucellar myelitis secondary NMOSD. On the basis of antibiotic treatment, one AQP4-IgG positive patient was treated with high-dose glucocorticoids only and later died; one MOG-IgG and AQP4-IgG double positive patient was treated with intravenous immunoglobulin combined with high-dose glucocorticoids and sequential rituximab, with mRS score decreasing from 5 at admission to 2 at the last follow-up and good neurological function recovery. Conclusions:The clinical manifestations of Brucellar myelitis are diverse and overlap with the clinical features of NMOSD. For patients with suspected Brucellar myelitis secondary NMOSD, combination of immunosuppressant (such as rituximab) with antibiotics may be an effective individualized treatment.

Objective:To observe the application effect of dexmedetomidine in brain tumor resection surgery.Methods:60 patients who underwent brain tumor resection surgery in our hospital from September 2023 to September 2024 were selected,the patients were randomly divided into reference group(conventional anesthesia,n=30)and experimental group(reference group combined with dexmedetomidine,n=30)used random number table method.Neuron specific enolase(NSE),blood glucose,hemodynamic indicators[mean arterial pressure(MAP)and heart rate(HR)]between the two groups were compared,the recovery time,intraoperative opioid use,sedative level,extubation time,and occurrence of adverse reactions between the two groups were observed.Results:Compared with the time point of intubation(T1),MAP in the reference group decreased sequentially from the time point of beginning of surgery(T2)to the time point of skull drilling(T3)(P＜0.05).Compared with the end of surgery(T5),the MAP at time point of after returning to the intensive care unit(T6)in the reference group increased(P＜0.05).MAP in the experimental group decreased sequentially from the time point of before anesthesia induction(T0)to T2(P＜0.05).Compared with the time point of T5,MAP in the experimental group at time point of T6 increased(P＜0.05).MAP in the experimental group at time points of T1-T3 and T6 was lower than that in the reference group(P＜0.05).HR in the reference group at time points of T0～T2 first increased and then decreased(P＜0.05),Compared with HR at time point of T5,HR at time point of T6 in the reference group increased(P＜0.05).Compared with the time point of T1,HR in the experimental group decreased first and then increased from the time point of T2 to T3(P＜0.05).Compared with HR at time point of T5,HR at time point of T6 in the experimental group increased(P＜0.05).HR in the experimental group at time points of T1 to after tumor resection(T4)and T6 were lower than those in the reference group(P＜0.05).NSE levels increased in both groups at time points of T5,but the experimental group was lower than that in the control group(P＜0.05).Compared with the blood glucose at time point of T0 in the same group,the blood glucose at time point of T5 in the reference group increased,while the blood glucose at time point of T5 in the experimental group decreased,and the blood glucose at time point of T5 in the experimental group was lower than that in the reference group(P＜0.05).There was no significant difference in the recovery time,extubation time,and postoperative Ramsay score between the two groups(P＞0.05),but the dosage of remifentanil in the experimental group was lower than that in the reference group(P＜0.05).The overall incidence of adverse reactions in the experimental group was lower than that in the reference group(P＜0.05).Conclusion:The application of dexmedetomidine in patients undergoing brain tumor resection surgery can stabilize the hemodynamics of patients,inhibit the stress response,and significantly reduce the dosage of remifentanil and the risk of adverse reactions.It has good sedative effect and safety.

To summarize the clinical experience of Professor LIU Shangyi in treating pruritus vulvae. It is believed that women have the physiological characteristics of liver and kidney as the root， and their pubic area is easily attacked by wind-dampness pathogenic qi， so the core mechanism of pruritus vulvae is proposed as wind-dampness accumulation and deficiency of liver and kidney. The core treatment method is to dispel wind-dampness and nourish the liver and kidneys， and modify the Danggui Decoction （当归饮子） to form a self-prescribed Yinyang Formula （阴痒方） as the basic prescription to treat pruritus vulvaen.