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

Objective To establish an analytical strategy covering multi-dataset processing, recursive feature elimination (RFE) screening and multi-model evaluation based on multiple machine learning algorithms, so as to screen radiation-sensitive genes and verify the feasibility of the evaluation strategy. Methods Qualified radiation transcriptome datasets were retrieved from public gene expression databases. Following standardized data preprocessing and feature preselection, 13 machine learning algorithms were adopted to construct models. The performance of each model was compared and validated in independent datasets. Results A total of 38 eligible datasets were included. Sixteen differentially expressed genes unreported in existing literature were screened out, among which ugcrhl, pdcl3, mct4, h2-g2 and fam120aos were correlated with radiation phenotypes. Ensemble learning algorithms including random forest and gradient boosting exhibited the optimal comprehensive performance. Independent dataset verification confirmed that the screened genes overlapped with known radiation-sensitive genes, and the model performance was consistent with the findings. Conclusion The machine learning strategy constructed in this study can effectively explore potential radiation-sensitive genes, and provides methodological support for subsequent relevant studies.

Objective To establish an analytical strategy covering multi-dataset processing, recursive feature elimination (RFE) screening and multi-model evaluation based on multiple machine learning algorithms, so as to screen radiation-sensitive genes and verify the feasibility of the evaluation strategy. Methods Qualified radiation transcriptome datasets were retrieved from public gene expression databases. Following standardized data preprocessing and feature preselection, 13 machine learning algorithms were adopted to construct models. The performance of each model was compared and validated in independent datasets. Results A total of 38 eligible datasets were included. Sixteen differentially expressed genes unreported in existing literature were screened out, among which ugcrhl, pdcl3, mct4, h2-g2 and fam120aos were correlated with radiation phenotypes. Ensemble learning algorithms including random forest and gradient boosting exhibited the optimal comprehensive performance. Independent dataset verification confirmed that the screened genes overlapped with known radiation-sensitive genes, and the model performance was consistent with the findings. Conclusion The machine learning strategy constructed in this study can effectively explore potential radiation-sensitive genes, and provides methodological support for subsequent relevant studies.

Objective To establish an analytical strategy covering multi-dataset processing, recursive feature elimination (RFE) screening and multi-model evaluation based on multiple machine learning algorithms, so as to screen radiation-sensitive genes and verify the feasibility of the evaluation strategy. Methods Qualified radiation transcriptome datasets were retrieved from public gene expression databases. Following standardized data preprocessing and feature preselection, 13 machine learning algorithms were adopted to construct models. The performance of each model was compared and validated in independent datasets. Results A total of 38 eligible datasets were included. Sixteen differentially expressed genes unreported in existing literature were screened out, among which ugcrhl, pdcl3, mct4, h2-g2 and fam120aos were correlated with radiation phenotypes. Ensemble learning algorithms including random forest and gradient boosting exhibited the optimal comprehensive performance. Independent dataset verification confirmed that the screened genes overlapped with known radiation-sensitive genes, and the model performance was consistent with the findings. Conclusion The machine learning strategy constructed in this study can effectively explore potential radiation-sensitive genes, and provides methodological support for subsequent relevant studies.

This study investigated the infection status,drug resistance,and molecular characteristics of Shiga toxin-producing Escherichia coli(STEC)in domestic goats in Chengkou county,Chongqing.In August 2023,283 fecal samples were collected from households in Chengkou county.After enrichment with EC broth and inoculation onto selective media,samples that tested positive for stx1/stx2 were selected for further isolation.The positive strains were investigated with antimicrobial susceptibility testing and whole genome sequencing.According to the whole genomic sequences,the stx subtypes,serotypes,multi-locus sequence types,virulence genes,drug resistance genes,and phylogenetic relationships of the STEC strains were analyzed.Forty-six strains of STEC were isolated from 283 goat fecal samples,thus resulting in a detection rate of 16.25%.The 46 STEC strains were categorized into 12 O∶H serotypes,among which O76∶H19 and O8∶H7 predominated,each represented by 9 strains.Five STEC strains were identified as serotype O157∶H7.The 46 STEC strains were categorized into 11 sequence types(STs),among which ST675 and ST196 predominated,each represented by nine strains,accounting for a 19.57%proportion.The strains were categorized into 7 stx subtypes,among which stx1c(26/46,56.52%),followed by stx2k(9/46,19.57%)predominated.All nine Stx2k-STEC strains were identified as serotype O8∶H7 and sequence type ST196.In antimicrobial susceptibility testing,2 STEC strains were resistant to ampicillin,one strain was resistant to ampicillin/sulbactam,one strain was resistant to cefazolin,and one strain was resistant to cefoxitin.Nine Stx2k-STEC strains were found to carry the beta-lactam resistance gene blaEC-18.Antimicrobial sensitivity tests revealed that the nine Stx2k-STEC strains were sensitive to all 15 tested antibiotics.Moreover,phylogenetic analysis indicated that the 9 Stx2k-STEC strains were remarkably similar but showed high genetic diversity with respect to that of the Stx2k-STEC strains isolated from other regions in China.Goatsare an important animal reservoir for STEC in theChengkou district of Chongqing,and novel sequence type Stx2k-STEC strains distinct from those found in other regions of China were identified in this region.

Objective:To analyze the efficacy of endoscopic nasal surgery for sinonasal squamous cell carcinoma (SNSCC) with orbital invasion, the factors affecting the prognosis of patients, and the treatment strategies for preserving the eyeball.Methods:This was a retrospective cohort study, including 60 cases of SNSCC with orbital invasion treated in the Department of Otolaryngology-Head and Neck Surgery, the Second Affiliated Hospital of Harbin Medical University from October 2009 to October 2019. The cohort comprised 39 males and 21 females, aged 33-72 years. Orbital invasion was graded: Grade Ⅰ (destruction of the orbital bone wall), Grade Ⅱ (involvement of the periorbita/orbital fascia, extraconal fat, or medial lacrimal sac), and Grade Ⅲ (involvement of extraocular muscles, eyeball, orbital apex, or optic nerve). All cases underwent multi-disciplinary treatment (MDT), including otolaryngology, ophthalmology and oncology radiotherapy departments, and endoscopic nasal surgery. Survival curves were calculated by Kaplan-Meier method, Log-rank test and Cox risk model were used for univariate and multivariate analysis, respectively.Results:Primary tumor sites were maxillary sinus in 19 cases (31.7%, including 6 cases of pterygopalatine fossa), ethmoid sinus in 25 cases (41.7%, 5 cases with skull base bone involvement but not dura mater), nasal cavity in 11 cases (18.3%), frontal sinus in 3 cases (5.0%), and sphenoid sinus in 2 cases (3.3%). Clinical stages included stage Ⅲ in 53 (88.3%) and stage Ⅳ in 7 (11.7%). The surgical methods of orbital invasion cases were as follows: 18 cases (30.0%) of grade I underwent orbital bone wall resection with orbital fascia and orbital contents preserved; 36 cases (60.0%) in Grade Ⅱ were resected the involved orbital fascia, extra-cone fat and lacrimal sac and preserved the internal cone structure of extra-ocular muscle. Six cases (10.0%) were grade Ⅲ, of which 2 cases were subjected to selective extraocular muscle resection with preserving eyeballs, and 4 cases were subjected to orbital contents removal. The 3-year and 5-year overall survival (OS) rates of all patients were 76.7% and 63.3%, respectively, and the 5-year survival rate of the local recurrence-free group was significantly higher than that of the recurrence group (69.4% vs. 36.4%, χ2=3.91, P=0.048). The 5-year survival rates were significantly negatively correlated with the degrees of orbital invasions (83.3% for grade Ⅰ, 58.3% for grade Ⅱ and 33.3% for grade Ⅲ, ( χ2=10.49, P=0.005). The effects of T stages (66.7% in stage T3 vs. 33.3% in stage T4, χ2=7.21, P=0.007) and clinical stages (67.9% in stage III vs. 28.6% in stage IV, χ2=11.80, P=0.001) on survival rates were statistically significant. The 5-year survival rate of patients with cervical lymph node metastases was significantly lower than that of patients without metastasis (37.5% vs. 67.3%, χ2=8.32, P=0.004). The tumor-free survival rate was 56.7%. Cox multivariate analysis identified T stage [ HR=3.53 (95% CI: 1.31-9.52)] and clinical stage [ HR=35.14 (95% CI: 1.88-658.62)] as independent prognostic factors (both P<0.05). Conclusions:The outcomes of patients with orbital invasion in SNSCC are associated with T stage and clinical stage. If the muscle cone and the structures within the muscle cone are not invaded, eye-preserving surgery is feasible.

This study investigated the infection status,drug resistance,and molecular characteristics of Shiga toxin-producing Escherichia coli(STEC)in domestic goats in Chengkou county,Chongqing.In August 2023,283 fecal samples were collected from households in Chengkou county.After enrichment with EC broth and inoculation onto selective media,samples that tested positive for stx1/stx2 were selected for further isolation.The positive strains were investigated with antimicrobial susceptibility testing and whole genome sequencing.According to the whole genomic sequences,the stx subtypes,serotypes,multi-locus sequence types,virulence genes,drug resistance genes,and phylogenetic relationships of the STEC strains were analyzed.Forty-six strains of STEC were isolated from 283 goat fecal samples,thus resulting in a detection rate of 16.25%.The 46 STEC strains were categorized into 12 O∶H serotypes,among which O76∶H19 and O8∶H7 predominated,each represented by 9 strains.Five STEC strains were identified as serotype O157∶H7.The 46 STEC strains were categorized into 11 sequence types(STs),among which ST675 and ST196 predominated,each represented by nine strains,accounting for a 19.57%proportion.The strains were categorized into 7 stx subtypes,among which stx1c(26/46,56.52%),followed by stx2k(9/46,19.57%)predominated.All nine Stx2k-STEC strains were identified as serotype O8∶H7 and sequence type ST196.In antimicrobial susceptibility testing,2 STEC strains were resistant to ampicillin,one strain was resistant to ampicillin/sulbactam,one strain was resistant to cefazolin,and one strain was resistant to cefoxitin.Nine Stx2k-STEC strains were found to carry the beta-lactam resistance gene blaEC-18.Antimicrobial sensitivity tests revealed that the nine Stx2k-STEC strains were sensitive to all 15 tested antibiotics.Moreover,phylogenetic analysis indicated that the 9 Stx2k-STEC strains were remarkably similar but showed high genetic diversity with respect to that of the Stx2k-STEC strains isolated from other regions in China.Goatsare an important animal reservoir for STEC in theChengkou district of Chongqing,and novel sequence type Stx2k-STEC strains distinct from those found in other regions of China were identified in this region.

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.

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.