OBJECTIVE: To explore the genetic etiology of two fetuses with Mosaic variegated aneuploidy syndrome (MVA) in a pedigree. METHODS: A 30-year-old pregnant woman, who presented at the Center for Medical Genetics and Prenatal Diagnosis of Shandong Maternal and Child Health Care Hospital on November 16, 2023, was enrolled. Clinical data of the pedigree were collected, and peripheral blood samples from the parents and amniotic fluid samples from the two fetuses were obtained for genomic DNA extraction. Whole exome sequencing (WES) was performed on both fetuses, followed by Sanger sequencing for familial validation and pathogenicity analysis of candidate variants. Chromosomal karyotyping of the parents was conducted to quantify the proportion of premature chromatid separation (PCS). This study was approved by the Medical Ethics Committee of Shandong Maternal and Child Health Care Hospital (Ethics No. 2024-034). RESULTS: Both fetuses exhibited structural brain anomalies and developmental delays during the second trimester. Amniocyte karyotyping revealed low-level mosaic aneuploidy involving multiple chromosomes, while chromosomal microarray analysis (CMA) showed no abnormalities. Pregnancy termination was performed for fetus 1. WES identified compound heterozygous variants in BUB1B, i.e., c.2363_2364del (p.S788Cfs*29) and ss804270619: G>A, in both fetuses. Sanger sequencing confirmed paternal inheritance of c.2363_2364del and maternal inheritance of ss804270619:G>A. According to the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resource (ClinGen) Standards and Guidelines for the Interpretation of Sequence Variants, the c.2363_2364del variant was classified as likely pathogenic (PVS1 + PM2_Supporting). Parental karyotyping demonstrated PCS traits, with a higher proportion of abnormal metaphases in the father. CONCLUSION The compound heterozygous variants c.2363_2364del (p.S788Cfs*29) and ss804270619: G>A in BUB1B may constitute the genetic etiology of the two MVA fetuses in this pedigree.
Humans ; Female ; Pregnancy ; Adult ; Mosaicism ; Protein Serine-Threonine Kinases/genetics* ; Chromosome Disorders/diagnosis* ; Pedigree ; Heterozygote ; Prenatal Diagnosis ; Aneuploidy ; Male ; Fetus ; Karyotyping

Objective To investigate the causal relationships between anxiety disorders and coronary heart disease(CHD),atrial fibrillation(AF),heart failure(HF),stroke and myocardial infarction(MI)risks by using the bidirectional two-sample Mendelian randomization study method.Methods The data were collected from the genome-wide association study(GWAS)conducted within the population-based Danish Lundbeck Foundation Initiative for Integrative Psychiatric Research(iPSYCH)study,as well as from five other databases related to cardiovascular diseases.The inverse variance weighting(IVW)method was used to produce the main results,and four methods,including MR-Egger regression,weighted median method,weighted model,and simple model,supplemented the results.Sensitivity analyses such as heterogeneity,horizontal pleiotropy,and leave-one-out analysis were also performed.Results The IVW and MR-Egger regression showed that anxiety disorders would increase the risk of coronary heart disease(IVW:OR=1.0001,95％CI=1.0001-1.0025,P=0.040;MR-Egger:OR=1.0030,95％CI=1.0009-1.0058,P=0.013).There was no evidence of a causal effect of cardiovascular diseases on anxiety disorders risks.There was no horizontal pleiotropy and heterogeneity in the instrumental variables of this study.The result of sensitivity analysis was robust.Conclusion The study supports the causal effect of anxiety disorders on CHD risk,but no association is found with an increased risk of other cardiovascular diseases,such as AF,HF,stroke,and MI.No reverse causal association effect is observed.

Creutzfeldt-Jakob disease(CJD)is a rapidly progressive and fatal neurodegenerative disorder caused by prions,with certain infectivity and iatrogenic transmission risks.With the rapid progress and application of new dia-gnostic biomarkers and detection methods,as well as the construction and improvement of surveillance and reporting systems,the detection of CJD in patients domestically and internationally has shown an increasing trend year by year.Due to its long incubation period and heterogeneity of early symptoms,early identification and diagnosis of the disease is difficult,increasing the risk of transmission within medical institutions.Currently,there is a lack of con-sensus on the infection prevention and control of CJD.In order to timely identify and diagnose CJD as well as effec-tively block its transmission in medical institutions,this consensus summarizes 15 clinical concerns and formulates 24 specific recommendations based on the latest domestic and international research findings and clinical evidence,as well as combines with clinical practice,aiming to standardize healthcare-associated infection prevention and control measures for CJD and reduce its transmission risk in medical institutions.

Objective To investigate the demand for postoperative follow-up care services among patients after outpatient surgery,to optimize the care service process,and to enhance the quality of outpatient care,so as to ensure timely and effective follow-up care after outpatient surgery and improve their satisfaction and rehabilitation outcomes.Methods A total of 156 patients who underwent outpatient surgical procedures at Navy 971 Hospital from January 2023 to December 2023 were enrolled as research subjects through convenient sampling.A self-designed questionnaire was used to investigate the general information of patients,their demand for postoperative follow-up care,and the recognition of follow-up care forms.The questionnaires were distributed and collected by professional personnel of the outpatient surgery room.The related service items of follow-up care were statistically analyzed using percentages and descriptive analysis.Results Of the 156 questionnaires distributed,all(100%)were returned and valid.Among the patients undergoing outpatient surgery,91.7%required follow-up care services.The follow-up care services with the highest demand among naval vessel personnel were self-observation and care guidance for wounds(90.4%),seeking help for wound discomfort(86.5%),and postoperative follow-up and health education(75.6%).The most recognized forms of follow-up care services were telephone follow-up(88.5%),remote consultation(76.3%),and on-site visits by medical teams(62.2%).Conclusion There is a high demand for follow-up care services among patients after outpatient surgery.Hospitals should establish a complete follow-up care service model and care teams based on the actual needs of patients and the requirements of health education,and formulate personalized follow-up care plans.

Objective To summarize the best evidence concerning the prevention and management of indwelling line complications in patients with hepatocellular carcinoma(HCC)receiving hepatic artery infusion chemotherapy(HAIC),and to standardize the key contents of clinical observation of complications during HAIC treatment.Methods By using the"6S"pyramid model system,the relevant literature was searched in the order from high to low.Two professionals evaluated the quality of the literature,summarized the evidence and conducted the analysis and summarization.Results Ten literature articles were finally enrolled in this study,including one article of guideline,one article of systematic review,five articles of expert consensus,one article of meta-analysis,and two articles of randomized controlled trials.Six complications(catheter displacement or falling off,catheter obstruction,unplanned extubation,arterial spasm or occlusion,infection,puncture site bleeding/local hematoma)and 22 pieces of best evidence for prevention management were summarized.Conclusion This study systematically summarizes 6 complications and their prevention and treatment in patients with HCC receiving HAIC,providing a reliable basis for clinical practice.

Objective To investigate the causal relationships between anxiety disorders and coronary heart disease(CHD),atrial fibrillation(AF),heart failure(HF),stroke and myocardial infarction(MI)risks by using the bidirectional two-sample Mendelian randomization study method.Methods The data were collected from the genome-wide association study(GWAS)conducted within the population-based Danish Lundbeck Foundation Initiative for Integrative Psychiatric Research(iPSYCH)study,as well as from five other databases related to cardiovascular diseases.The inverse variance weighting(IVW)method was used to produce the main results,and four methods,including MR-Egger regression,weighted median method,weighted model,and simple model,supplemented the results.Sensitivity analyses such as heterogeneity,horizontal pleiotropy,and leave-one-out analysis were also performed.Results The IVW and MR-Egger regression showed that anxiety disorders would increase the risk of coronary heart disease(IVW:OR=1.0001,95％CI=1.0001-1.0025,P=0.040;MR-Egger:OR=1.0030,95％CI=1.0009-1.0058,P=0.013).There was no evidence of a causal effect of cardiovascular diseases on anxiety disorders risks.There was no horizontal pleiotropy and heterogeneity in the instrumental variables of this study.The result of sensitivity analysis was robust.Conclusion The study supports the causal effect of anxiety disorders on CHD risk,but no association is found with an increased risk of other cardiovascular diseases,such as AF,HF,stroke,and MI.No reverse causal association effect is observed.

Creutzfeldt-Jakob disease(CJD)is a rapidly progressive and fatal neurodegenerative disorder caused by prions,with certain infectivity and iatrogenic transmission risks.With the rapid progress and application of new dia-gnostic biomarkers and detection methods,as well as the construction and improvement of surveillance and reporting systems,the detection of CJD in patients domestically and internationally has shown an increasing trend year by year.Due to its long incubation period and heterogeneity of early symptoms,early identification and diagnosis of the disease is difficult,increasing the risk of transmission within medical institutions.Currently,there is a lack of con-sensus on the infection prevention and control of CJD.In order to timely identify and diagnose CJD as well as effec-tively block its transmission in medical institutions,this consensus summarizes 15 clinical concerns and formulates 24 specific recommendations based on the latest domestic and international research findings and clinical evidence,as well as combines with clinical practice,aiming to standardize healthcare-associated infection prevention and control measures for CJD and reduce its transmission risk in medical institutions.

Objective To investigate the expression changes and clinical significance of serum pepsinogen(PG)and triggering receptor expressed on myeloid cells-1(TREM-1)in patients with reflux esophagitis(RE).Methods A total of 140 patients with RE who were treated from October 2021 to October 2023 were selected as the observation group,and 140 healthy adults who underwent physical examination during the same period were selected as the control group.Serum PG(PGⅠ and PGⅡ)and TREM-1 were detected by ELISA.Multivariate logistic regression was used to analyze the influencing factors of RE.Receiver operating characteristic(ROC)was used to analyze the diagnostic efficacy of serum PGⅠ,PGⅡ and TREM-1 levels for RE.Results The levels of interleukin(IL)-2,IL-6,Il-1β,PGⅡ,TREM-1 and tumor necrosis factor-α(TNF-α)in the observation group were significantly higher than those in the control group,while the level of PGⅠ was significantly lower than that in the control group(P<0.01).Serum IL-2,IL-6,IL-1β,TNF-α,PGⅡ and TREM-1 were risk factors for RE,while serum PGⅠ was a protective factor for RE(P<0.01).ROC curve analysis showed that the area under the ROC curve(AUC)of combined detection of PGⅠ,PGⅡ and TREM-1 in the diagnosis of RE was significantly higher than that of PGⅠ alone(Z=5.940,P<0.001)and PGⅡ alone(Z=6.764,P<0.001)and TREM-1 alone(Z=6.791,P<0.001).Conclusion The expression levels of serum PGⅡ and TREM-1 in patients with RE are increased,while the expression level of PGⅠ is decreased.The combined detection of the three can improve the diagnostic efficacy of RE.

Objective To evaluate the role of dynamic contrast-enhanced magnetic resonance imaging(DCE-MRI)in the diagnosis of axillary lymph node metastasis(ALNM)in breast cancer patients with low HER-2 expression.Methods A total of 297 breast cancer patients with low HER-2 expression treated at the Affiliated Hospital of Xuzhou Medical University were enrolled and divided into ALNM group(n=71)and non-ALNM group(n=226)according to whether there was ALNM.All patients underwent DCE-MRI,and DCE-MRI derived parameters were collected and analyzed.Logistic regression analysis was used to identify the risk factors for ALNM,and the efficacy of DCE-MRI in diagnosing ALNM was assessed using receiver operating characteristic curve.Results Significant differences were observed between two groups in lesion distribution,TNM staging,vascular invasion,and most DCE-MRI derived parameters including short-to-long axis ratio,Ve,Ktrans,Kep,ADC and SER(all P<0.05).Multivariate regression analysis revealed that the short-to-long axis ratio,Ve,Ktrans,Kep,ADC and SER were significant risk factors for ALNM in breast cancer patients.Comparative analysis demonstrated that the combination of DCE-MRI derived parameters yielded a maximum area under the curve of 0.976,with a sensitivity of 91.5%and a specificity of 92.9%.Conclusion DCE-MRI is an effective tool for determining the presence of ALNM in breast cancer patients with low HER-2 expression,providing significant diagnostic evidence for clinical practice.

Objective To investigate the expression changes and clinical significance of serum pepsinogen(PG)and triggering receptor expressed on myeloid cells-1(TREM-1)in patients with reflux esophagitis(RE).Methods A total of 140 patients with RE who were treated from October 2021 to October 2023 were selected as the observation group,and 140 healthy adults who underwent physical examination during the same period were selected as the control group.Serum PG(PGⅠ and PGⅡ)and TREM-1 were detected by ELISA.Multivariate logistic regression was used to analyze the influencing factors of RE.Receiver operating characteristic(ROC)was used to analyze the diagnostic efficacy of serum PGⅠ,PGⅡ and TREM-1 levels for RE.Results The levels of interleukin(IL)-2,IL-6,Il-1β,PGⅡ,TREM-1 and tumor necrosis factor-α(TNF-α)in the observation group were significantly higher than those in the control group,while the level of PGⅠ was significantly lower than that in the control group(P<0.01).Serum IL-2,IL-6,IL-1β,TNF-α,PGⅡ and TREM-1 were risk factors for RE,while serum PGⅠ was a protective factor for RE(P<0.01).ROC curve analysis showed that the area under the ROC curve(AUC)of combined detection of PGⅠ,PGⅡ and TREM-1 in the diagnosis of RE was significantly higher than that of PGⅠ alone(Z=5.940,P<0.001)and PGⅡ alone(Z=6.764,P<0.001)and TREM-1 alone(Z=6.791,P<0.001).Conclusion The expression levels of serum PGⅡ and TREM-1 in patients with RE are increased,while the expression level of PGⅠ is decreased.The combined detection of the three can improve the diagnostic efficacy of RE.