OBJECTIVE: To explore the genetic etiology for a pregnant woman with a history of multiple adverse pregnancies and assess the phenotype-genotype correlation of 22q11.2 microduplication syndrome in her family. METHODS: Amniotic fluid sample was taken from a pregnant woman for whom non-invasive prenatal screening indicated chromosome 22 abnormalities in the fetus. Peripheral blood samples from the woman, her brother and parents were collected for high-throughput low-depth whole genome sequencing (CNV-seq). A pedigree traceability analysis of the results was conducted in conjunction with analysis of clinical manifestation. Relevant literature (from establishment to March 2025) was systematically searched. This study was approved by the Medical Ethics Committee of Mianyang Maternal and Child Health Care Hospital (Ethics No.: Lun Shen [2024]009). RESULTS: CNV-seq revealed that the fetus had harbored a 6.02 Mb duplication at 22q11.21q11.23. Karyotyping confirmed it as 46,X?dup(22)(q11.2). Pedigree verification demonstrated that the pregnant woman, her brother and mother had all carried the same duplication. Phenotypic analysis of the affected family members showed classic features of 22q11.2 microduplication syndrome, including hypernasal speech, low nasal bridge, congenital heart disease, and cognitive impairment. A total of 44 cases with full information (including three patients from this pedigree) were included in the analysis. The penetrance of 22q11.2 duplication was approximately 29.5% (13/44), and 52.3% (23/44) of the cases had inherited the variant from a phenotypically normal parent. CONCLUSION This study has identified the genetic basis for the woman's recurrent adverse pregnancies and phenotypic abnormalities in her family members. The scoliosis identified in her younger brother has not been previously reported, thereby may enrich the clinical phenotype of this syndrome. For fetuses identified with a 22q11.2 microduplication, detailed fetal imaging is recommended, and genetic counseling should be provided to the couples.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; Chromosome Duplication/genetics* ; Male ; Pedigree ; DiGeorge Syndrome/diagnosis* ; Adult ; Chromosomes, Human, Pair 22/genetics* ; Abnormalities, Multiple

Objective To investigate the correlation between platelet-to-albumin ratio(PAR)and occurrence of cerebral infarction after left atrial appendage closure(LAAC)in patients with non-valvular atrial fibrillation(NVAF).Methods A retrospective study was conducted on 259 NVAF patients undergoing LAAC in our department between 2019 and 2023.According to occurrence of cerebral infarction after LAAC or not,they were divided into a control group(241 cases)and a study group(18 cases).Their general data were collected,and Cox proportional hazards regression model was used to identify the risk factors for cerebral infarction.ROC curve was plotted to assess the predictive value of PAR for cerebral infarction in NVAF patients after LAAC,and the AUC value was calculated.Kaplan-Meier survival curve was drawn to analyze the incidence of cerebral infarction after LAAC in NVAF patients with different PAR values.Results The study group had significantly advanced age,higher SBP at admission,increased WBC,neutrophil,monocyte and platelet counts,longer thrombin time,elevated international normalized ratio(INR)and high-sensitivity C-reactive protein(hs-CRP)level,and higher PAR than the control group(P＜0.05,P＜0.01).Multivariate Cox regression analysis showed that PAR(HR=2.286,95％CI:1.182-4.420,P＜0.05)was an independent risk factor for cerebral infarction in NVAF patients after LAAC.ROC curve indicated that the AUC value of PAR in predicting cerebral infarction after LAAC in NVAF patients was 0.721(95％CI:0.586-0.856,P＜0.01),with an optimal cut-off value of 4.137,a sensitivity of 66.39％,and a specificity of 77.78％.Kaplan-Meier survival curve revealed that the higher the PAR value was,the higher the risk of cerebral infarction was(P＜0.01).Conclusion PAR is significantly correlated with cerebral infarction in NVAF patients after LAAC.The higher the PAR,the higher the risk of cerebral infarction,demonstrating its predictive value and being worthy of clinical promotion.

Objective:To investigate the correlation between vasoactive-inotropic score and 30-day mortality after surgery in acute Stanford type A aortic dissection(ATAAD) patients.Methods:The clinical data of 242 patients with ATAAD who underwent surgical treatment was retrospectively analyzed between November 2015 and May 2024. There were 172 males and 70 females. The average age was(53.1±11.9) years, ranging from 28 to 85 years. Patients were divided into death group(18 cases) and survival group(224 cases) according to the 30-day outcomes after surgery. The VIS at different time points and perioperative indexes of two groups of patients were analyzed, and multivariate logistic regression was used to analyze the risk factors of 30-day mortality after surgery in ATAAD patients. The receiver operating characteristic curve( ROC) was drawn to evaluate the predictive value of vasoactive-inotropic score. Results:Among 242 ATAAD patients, 18 patients died within 30 days after surgery, with a mortality rate of 7.4%. The age, incidence of pericardial tamponade/cardiogenic shock, incidence of malperfusion syndrome, cardiopulmonary bypass time, red blood cell transfusion intraoperative and in 24 hours postoperatively, ventilator assisted time, and incidence of major postoperative complications of patients in the death group were significantly higher than those in the survival group( P<0.05). The VIS of the death group was significantly higher than that of the survival group at all time points( P<0.05). The area under the receiver operating characteristic curve( AUC) of VIS for predicting death at each time point was greater than 0.500( P<0.05), with the highest AUC(0.906) of the second 24 hours(VISmax48h) in ICU. The optimal cut off value was determined to be 9, with a sensitivity of 0.944 and a specificity of 0.821. Logistic regression analysis showed that the VISmax48h of the second 24 hours in ICU was an independent risk factor for 30-day mortality after surgery in ATAAD patients( OR=1.462, 95% CI: 1.230-1.737, P<0.05). Conclusion:When VISmax48h≥9, patients with ATAAD have an increased risk of mortality after surgery. VISmax48h, cardiopulmonary bypass time, and red blood cell transfusion intraoperative in 24 hours postoperatively are independent risk factors for the 30-day mortality of ATAAD patients.

Objective To explore the correlation between systemic inflammatory response index(SIRI)and the prognosis of elderly heart failure(HF)patients.Methods A retrospective study was conducted on 300 elderly HF patients with complete medical records hospitalized in our de-partment from January to December 2022.During the follow-up period for 1 year in different ways,46 of them were lost,and 254 were finally included.Baseline data,complete blood count at admission,and results of auxiliary examinations,and medicine adherence after discharge were col-lected and recorded.According to the occurrence of major adverse cardiovascular events(MACE),the subjected patients were divided into a MACE group(96 cases)and a non-MACE group(158 cases).The baseline data and relevant examination indicators were compared between the two groups,and the relevant factors for the occurrence were analyzed by using logistic regression.ROC curve analysis was employed to assess the predictive value of SIRI for MACE occurrence.Results The MACE group had significantly advanced age,larger proportion of diabetes mellitus,higher neutrophil and platelet counts,and elevated D-dimer level,but lower standardized medication rate when compared with the non-MACE group(P＜0.05,P＜0.01).The SIRI level was obviously higher in the MACE group than the non-MACE group[1.70(1.13,2.33)vs 1.29(0.85,2.06),P=0.002].Multivariate logistic regression analysis showed that atrial fibrillation,standardized medi-cation,mononuclear cells,and SIRI were independent risk factors for the occurrence of MACE in elderly HF patients(P＜0.05,P＜0.01).ROC curve analysis indicated that the AUC value of SIRI in predicting the occurrence of MACE was 0.614(95％CI:0.544-0.683),with a sensitivity of 0.813 and a specificity of 0.437.Conclusion SIRI is significantly correlated with the occurrence of MACE in elderly HF patients,and has a certain predictive value for their prognosis.

Objective:To investigate the correlation between vasoactive-inotropic score and 30-day mortality after surgery in acute Stanford type A aortic dissection(ATAAD) patients.Methods:The clinical data of 242 patients with ATAAD who underwent surgical treatment was retrospectively analyzed between November 2015 and May 2024. There were 172 males and 70 females. The average age was(53.1±11.9) years, ranging from 28 to 85 years. Patients were divided into death group(18 cases) and survival group(224 cases) according to the 30-day outcomes after surgery. The VIS at different time points and perioperative indexes of two groups of patients were analyzed, and multivariate logistic regression was used to analyze the risk factors of 30-day mortality after surgery in ATAAD patients. The receiver operating characteristic curve( ROC) was drawn to evaluate the predictive value of vasoactive-inotropic score. Results:Among 242 ATAAD patients, 18 patients died within 30 days after surgery, with a mortality rate of 7.4%. The age, incidence of pericardial tamponade/cardiogenic shock, incidence of malperfusion syndrome, cardiopulmonary bypass time, red blood cell transfusion intraoperative and in 24 hours postoperatively, ventilator assisted time, and incidence of major postoperative complications of patients in the death group were significantly higher than those in the survival group( P<0.05). The VIS of the death group was significantly higher than that of the survival group at all time points( P<0.05). The area under the receiver operating characteristic curve( AUC) of VIS for predicting death at each time point was greater than 0.500( P<0.05), with the highest AUC(0.906) of the second 24 hours(VISmax48h) in ICU. The optimal cut off value was determined to be 9, with a sensitivity of 0.944 and a specificity of 0.821. Logistic regression analysis showed that the VISmax48h of the second 24 hours in ICU was an independent risk factor for 30-day mortality after surgery in ATAAD patients( OR=1.462, 95% CI: 1.230-1.737, P<0.05). Conclusion:When VISmax48h≥9, patients with ATAAD have an increased risk of mortality after surgery. VISmax48h, cardiopulmonary bypass time, and red blood cell transfusion intraoperative in 24 hours postoperatively are independent risk factors for the 30-day mortality of ATAAD patients.

Objective To explore the correlation between systemic inflammatory response index(SIRI)and the prognosis of elderly heart failure(HF)patients.Methods A retrospective study was conducted on 300 elderly HF patients with complete medical records hospitalized in our de-partment from January to December 2022.During the follow-up period for 1 year in different ways,46 of them were lost,and 254 were finally included.Baseline data,complete blood count at admission,and results of auxiliary examinations,and medicine adherence after discharge were col-lected and recorded.According to the occurrence of major adverse cardiovascular events(MACE),the subjected patients were divided into a MACE group(96 cases)and a non-MACE group(158 cases).The baseline data and relevant examination indicators were compared between the two groups,and the relevant factors for the occurrence were analyzed by using logistic regression.ROC curve analysis was employed to assess the predictive value of SIRI for MACE occurrence.Results The MACE group had significantly advanced age,larger proportion of diabetes mellitus,higher neutrophil and platelet counts,and elevated D-dimer level,but lower standardized medication rate when compared with the non-MACE group(P＜0.05,P＜0.01).The SIRI level was obviously higher in the MACE group than the non-MACE group[1.70(1.13,2.33)vs 1.29(0.85,2.06),P=0.002].Multivariate logistic regression analysis showed that atrial fibrillation,standardized medi-cation,mononuclear cells,and SIRI were independent risk factors for the occurrence of MACE in elderly HF patients(P＜0.05,P＜0.01).ROC curve analysis indicated that the AUC value of SIRI in predicting the occurrence of MACE was 0.614(95％CI:0.544-0.683),with a sensitivity of 0.813 and a specificity of 0.437.Conclusion SIRI is significantly correlated with the occurrence of MACE in elderly HF patients,and has a certain predictive value for their prognosis.

Objective To investigate the correlation between platelet-to-albumin ratio(PAR)and occurrence of cerebral infarction after left atrial appendage closure(LAAC)in patients with non-valvular atrial fibrillation(NVAF).Methods A retrospective study was conducted on 259 NVAF patients undergoing LAAC in our department between 2019 and 2023.According to occurrence of cerebral infarction after LAAC or not,they were divided into a control group(241 cases)and a study group(18 cases).Their general data were collected,and Cox proportional hazards regression model was used to identify the risk factors for cerebral infarction.ROC curve was plotted to assess the predictive value of PAR for cerebral infarction in NVAF patients after LAAC,and the AUC value was calculated.Kaplan-Meier survival curve was drawn to analyze the incidence of cerebral infarction after LAAC in NVAF patients with different PAR values.Results The study group had significantly advanced age,higher SBP at admission,increased WBC,neutrophil,monocyte and platelet counts,longer thrombin time,elevated international normalized ratio(INR)and high-sensitivity C-reactive protein(hs-CRP)level,and higher PAR than the control group(P＜0.05,P＜0.01).Multivariate Cox regression analysis showed that PAR(HR=2.286,95％CI:1.182-4.420,P＜0.05)was an independent risk factor for cerebral infarction in NVAF patients after LAAC.ROC curve indicated that the AUC value of PAR in predicting cerebral infarction after LAAC in NVAF patients was 0.721(95％CI:0.586-0.856,P＜0.01),with an optimal cut-off value of 4.137,a sensitivity of 66.39％,and a specificity of 77.78％.Kaplan-Meier survival curve revealed that the higher the PAR value was,the higher the risk of cerebral infarction was(P＜0.01).Conclusion PAR is significantly correlated with cerebral infarction in NVAF patients after LAAC.The higher the PAR,the higher the risk of cerebral infarction,demonstrating its predictive value and being worthy of clinical promotion.

Free fatty acids, as important energy metabolism substrates for the heart, play an important role in various cardiovascular diseases; ω-3 PUFA, as an important branch of free fatty acids, has been confirmed by more and more researches to be closely related to cardiovascular diseases. Heart failure, as a common cardiovascular problem, seriously affects people's quality of life. Studies have shown that ω-3 PUFA plays a significant role in the development of heart failure. In this paper, we try to review the metabolism, pathogenesis and therapeutic significance of ω-3 PUFA in heart failure.

Objective To establish a nomogram model for efficiently predicting overall survival(OS)and cancer-specific survival(CSS)in patients with CRCHBM.Method 2239 patients from 2010 to 2019 were retrospectively analyzed from the Surveillance,Epidemiology,and End Results Program(SEER)databases and Wuhan Union Hospital Cancer Center.SEER is randomly assigned to the training and internal validation cohorts,and the Wuhan database serves as the external validation.Cox regression analyses were used to determine the independent clinicopathological prognosis factors affecting OS and CSS,and a nomogram was constructed to predict OS and CSS.The clinical utility of columnar plots was assessed using calibration curves,area under the curve(AUC),and decision curve analysis(DCA).Result OS column line graphs were constructed based on nine independent predictors:age,tumor location,degree of differentiation,tumor size,TNM stage,chemotherapy,primary focus surgery,number of lymph nodes sampled,and serum carcinoembryonic antigen(CEA)level.The C-index of the nomogram to predict the 1-,3-,and 5-year OS were 0.764,0.790,and 0.805 in the training group,0.754,0.760,and 0.801 in the internal validation group,and 0.822,0.874,and 0.906 in the external validation group.CSS column line graphs were constructed based on 3 independent predictors of TNM staging,radiotherapy and chemotherapy.The 1-,3-,and 5-year CSS AUROC values of the training group were 0.791,0.757,and 0.782,respectively.0.682,0.709,0.625 in the internal validation group and 0.759,0.702,0.755 in the external validation group,respectively.The results of receiver operating characteristic curve(ROC),ROC and DCA showed that the use of our model was more effective in predicting OS and CSS than other single clinicopathological features.Conclusion In summary,the nomogram based on significant clinicopathological features can be conveniently used to predict OS and CSS individually in patients with CRCHBM.

Objective:To explore the standardization of totally implantable venous power port of nursing process in CT enhancement and application effect of contrast medium injection, so as to provide a safer and more efficient way for contrast medium injection in CT enhanced examination for patients with malignant tumors.Methods:A non-randomized prospective study was conducted, 358 patients with malignant tumors were selected in Sun Yat-sen Memorial Hospital, Sun Yat-sen University who underwent CT enhanced examination from August 1, 2022 to July 31, 2023, 179 patients who had been implanted totally implantable venous power port were selected as the experimental group, and the standardized nursing procedure was given. The other 179 patients were the control group, using radiology routine high-pressure intravenous indwelling needle as the contrast medium access, with routine peripheral venous nursing process. The incidence of contrast medium extravasation during CT enhanced examination was observed and compared between the two groups.Results:All the patients were included. There were 85 males and 94 females, aged (55.50±11.72) years old in the control group. There were 83 males and 96 females, aged (54.50±12.24) years old in the experimental group. The incidence of contrast medium extravasation was 0 in the experimental group and 3.35%(6/179) in the control group. The difference between the two groups was statistically significant (Fisher exact probability, P<0.05). Conclusions:The application of standardized nursing procedure of totally implantable venous power port to the injection of contrast medium in CT enhanced examination of malignant tumor patients, can significantly reduce the incidence of contrast medium extravasation.