OBJECTIVES: To create a mixed valvular heart disease (MVHD)-related age-adjusted comorbidity index (MVACI) model for predicting mortality risk of patients with MVHD. METHODS: A total of 4080 patients with moderate or severe MVHD in the China-VHD study were included. The primary endpoint was 2-year all-cause mortality. A MVACI model prediction model was constructed based on the mortality risk factors identified by univariate and multivariate Cox regression analysis. Restricted cubic splines were used to assess the relationship between MVACI scores and 2-year all-cause mortality. The optimal threshold, determined by the maximum Youden index from receiver operator characteristic (ROC) curve analysis, was used to stratify patients. Kaplan-Meier method was used to calculate 2-year all-cause mortality and compared using the Log-rank test. Univariate and multivariate Cox proportional hazards models were employed to calculate hazard ratios (HR) and 95% confidence intervals (CI), evaluating the association between MVACI scores and mortality. Paired ROC curves were used to compare the discriminative ability of MVACI scores with the European System for Cardiac Operative Risk Evaluation Ⅱ(EuroSCORE Ⅱ) or the age-adjusted Charlson comorbidity index (ACCI) in predicting 2-year clinical outcomes, while calibration curves assessed the calibration of these models. Internal validation was performed using the Bootstrap method. Subgroup analyses were conducted based on etiology, treatment strategies, and disease severity. RESULTS: Multivariate analysis identified the following variables independently associated with 2-year all-cause mortality in patients: pulmonary hypertension, myocardiopathy, heart failure, low body weight (body mass index <18.5 kg/m²), anaemia, hypoalbuminemia, renal insufficiency, cancer, New York Heart Association (NYHA) class and age. The score was independently associated with the risk of all-cause mortality, and exhibited good discrimination (AUC=0.777, 95%CI: 0.755-0.799) and calibration (Brier score 0.062), with significantly better predictive performance than EuroSCORE Ⅱ or ACCI (both adjusted P<0.01). The internal validation showed that the MVACI model's predicted probability of 2-year all-cause mortality was generally consistent with the actual probability. The AUCs for predicting all-cause mortality risk were all above 0.750, and those for predicting adverse events were all above 0.630. The prognostic value of the score remained consistent in patients regardless of their etiology, therapeutic option, and disease severity. CONCLUSIONS The MVACI was constructed in this study based on age and comorbidities, and can be used for mortality risk prediction and risk stratification of MVHD patients. It is a simple algorithmic index and easy to use.
Humans ; Prognosis ; Comorbidity ; Heart Valve Diseases/epidemiology* ; Female ; Male ; Middle Aged ; Aged ; Proportional Hazards Models ; Risk Factors ; China/epidemiology* ; Age Factors ; Risk Assessment ; Adult ; ROC Curve

OBJECTIVE: To investigate the genetic characteristics and clinical utility of Optical genome mapping (OGM) in resolving complex genomic rearrangements in families with recurrent pregnancy loss. METHODS: A recurrent miscarriage family which presented at both the People's Hospital of Qianxinan Buyi and Miao Autonomous Prefecture and the Affiliated Women and Children's Hospital of Ningbo University in September 2024 was selected as the study subject. Relevant clinical information was collected. Peripheral blood samples of the couple were collected for G banding karyotyping analysis, and copy number variation sequencing (CNV-seq) and OGM were used for verification. This study was approved by the Medical Ethics Committee of the Affiliated Women and Children's Hospital of Ningbo University (Ethics No.: EC2024-148). RESULTS: CNV-seq in an external hospital detected a 10.67 Mb deletion in the 16q12.1q21 region, a 142.4 kb deletion in the 5p15.2 region, and a 359.55 kb duplication in the 7p22.2 region. No abnormality was found in the chromosomal karyotype of the male partner, and the initial karyotyping of the female partner suggested 46,XX,?del(16)(q12.1q22). The CNV-seq verification of her indicated only variations in the 5p15.2 and 7p22.2 fragments, and no deletion of 16q was detected. As indicated by precise OGM analysis, multiple intrachromosomal and interchromosomal translocation variations had occurred between chromosomes 10 and 16 in the female partner, with complex balanced rearrangements (including 5 transchromosomal breakpoints). CONCLUSION The complex balanced rearrangements of the female partner's chromosomes had occurred during meiosis, the resultant unbalanced gametes may be the cause of repeated miscarriage in this family. OGM can delineate complex rearrangement breakpoints and directions that are difficult to reveal by conventional karyotyping analysis and provide a basis for accurate reproductive genetic counseling.
Humans ; Abortion, Habitual/etiology* ; Female ; Pregnancy ; Male ; DNA Copy Number Variations/genetics* ; Adult ; Karyotyping ; Pedigree ; Gene Rearrangement ; Chromosome Mapping

OBJECTIVE: To determine the carrier rate for thalassemia mutations in the ethnic Miao population of Qianxinan Prefecture. METHODS: Ethnic Miao people suspected for thalassemia trait at the People's Hospital of Qianxinan Prefecture, Guizhou Province between November 2020 to September 2024 were selected as the study subjects. Gap-PCR technology combined with high-throughput sequencing was used to screen a total of 666 individuals. ArcMap v10.8.2 was used to create a spatial distribution map of thalassemia based on the screening results. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2016-01). RESULTS: In total 254 positive cases were detected, with an overall positive rate of 38.14%. Among these, 173 cases were α-thalassemia (25.98%), 77 cases were β-thalassemia (11.56%), and 4 cases were αβ compound thalassemia (0.60%). The most common genotypes for α-thalassemia were αα/--^SEA (positive rate = 10.06%, accounting for 38.73%), αα/-α^3.7 (positive rate = 8.86%, accounting for 34.10%), and α^CSα/αα (positive rate = 4.95%, accounting for 19.08%). The most common genotypes for β-thalassemia were β^41/42(-TTCT)/β^A (positive rate = 5.11%, accounting for 44.16%) and β^{17 (A>T)}/β^A(positive rate = 4.20%, accounting for 36.36%), with these two genotypes accounting for as much as 80.52%. The spatial distribution map indicated that the highest overall detection rate of thalassemia and α-thalassemia in the Miao population of Qianxinan Prefecture was in Xingyi City. The highest detection rate of β-thalassemia was in Zhenfeng County, and the highest detection rate of αβ compound thalassemia was in Wangmo County. CONCLUSION The detection rate of thalassemia among the ethnic Miaos from Qianxinan Prefecture is relatively high, which primarily consisted of α-thalassemia. Regular monitoring and educational outreach should be conducted.
Humans ; China/ethnology* ; Female ; Male ; Genetic Testing ; Adult ; alpha-Thalassemia/genetics* ; Thalassemia/ethnology* ; Ethnicity/genetics* ; Genotype ; beta-Thalassemia/ethnology* ; Adolescent ; Mutation ; Middle Aged ; Child ; Asian People/genetics* ; Young Adult

Objective:To screen the genes of suspected Mediterranean anemia patients (thalassemia) among the Bouyei in Qianxinan Bouyei and Miao Autonomous Prefecture (referred to as Qianxinan Prefecture) and to learn about the genotype and spatial distribution of thalassemia.Methods:The study subjects were Bouyei suspected thalassemia patients who visited Qianxinan Prefecture People's Hospital from November 2020 to September 2024 ( n = 4 055). Gap polymerase chain reaction (Gap-PCR) and high-throughput sequencing were used to screen for genetic variations in thalassemia. Based on the screening data, ArcMap 10.8.2 software was used to draw a spatial distribution map of thalassemia. Results:A total of 2 467 cases of thalassemia genes were detected, with an overall detection rate of 60.84%. Among them, 1 474 cases of α-thalassemia were detected, with a detection rate of 36.35%; 757 cases of β-thalassemia were detected, with a detection rate of 18.67%; and 236 cases of αβ-combined thalassemia were detected, with a detection rate of 5.82%. The spatial distribution showed that the overall detection rate of thalassemia among Bouyei in Zhenfeng County was the highest (66.83%, 268/401), the detection rate of α-thalassemia in Xingyi City was the highest (39.20%, 305/778), the detection rate of β-thalassemia in Anlong County was the highest (23.71%, 55/232), while the detection rate of αβ-combined thalassemia in Ceheng County was the highest (7.75%, 95/1 226).Conclusions:The detection rate of suspected thalassemia genes in Bouyei patients in Qianxinan Prefecture is relatively high, with α-thalassemia being predominant, and there are significant spatial distribution differences.

Objective:To screen the genes of suspected Mediterranean anemia patients (thalassemia) among the Bouyei in Qianxinan Bouyei and Miao Autonomous Prefecture (referred to as Qianxinan Prefecture) and to learn about the genotype and spatial distribution of thalassemia.Methods:The study subjects were Bouyei suspected thalassemia patients who visited Qianxinan Prefecture People's Hospital from November 2020 to September 2024 ( n = 4 055). Gap polymerase chain reaction (Gap-PCR) and high-throughput sequencing were used to screen for genetic variations in thalassemia. Based on the screening data, ArcMap 10.8.2 software was used to draw a spatial distribution map of thalassemia. Results:A total of 2 467 cases of thalassemia genes were detected, with an overall detection rate of 60.84%. Among them, 1 474 cases of α-thalassemia were detected, with a detection rate of 36.35%; 757 cases of β-thalassemia were detected, with a detection rate of 18.67%; and 236 cases of αβ-combined thalassemia were detected, with a detection rate of 5.82%. The spatial distribution showed that the overall detection rate of thalassemia among Bouyei in Zhenfeng County was the highest (66.83%, 268/401), the detection rate of α-thalassemia in Xingyi City was the highest (39.20%, 305/778), the detection rate of β-thalassemia in Anlong County was the highest (23.71%, 55/232), while the detection rate of αβ-combined thalassemia in Ceheng County was the highest (7.75%, 95/1 226).Conclusions:The detection rate of suspected thalassemia genes in Bouyei patients in Qianxinan Prefecture is relatively high, with α-thalassemia being predominant, and there are significant spatial distribution differences.

Objective:To investigate the feasibility and clinical diagnostic value of rapid arterial spin labeling (ASL) imaging in brain glioma.Methods:Patients with glioma admitted to Beijing Tiantan Hospital, Capital Medical University from May 2021 to December 2022 were prospectively enrolled. All patients received MR rapid ASL (scan time: 1 min) and conventional ASL (scan time: 4 min 30 s), where the cerebral blood flow (CBF) perfusion maps were obtained. The qualitative analysis of CBF signal intensity and quantitative analysis of average CBF values from both tumor solid and edema regions were conducted by two radiologists independently. Kappa test and intraclass correlation coefficient ( ICC) were used to analyze the consistency of qualitative and quantitative results, respectively. Results:A total of 30 patients with brain glioma were included. The 2 physicians used rapid ASL to determine low perfusion, isoperfusion, and hyperperfusion in the tumor area in 1, 6, 23 cases and 0, 5, and 25 cases, respectively; and used conventional ASL to determine low perfusion, isoperfusion, and hyperperfusion in the tumor area in 0, 9, and 21 cases, respectively. The results of qualitative analysis of rapid ASL and conventional ASL were highly consistent within and between groups ( Kappa was 0.830 and 0.850 respectively). The results of quantitative analysis of rapid ASL and conventional ASL were highly consistent within and between groups ( ICC 0.940—0.994). Conclusion:Rapid ASL with shorter scanning time could be applied in assessing tissue perfusion in brain glioma and contribute to the clinical diagnosis of gliomas.

Palliative care is the final link in the whole lifecycle health management and is an important part of promoting a healthy China. In order to further improve service efficiency and the quality of end-of-life care, Shanghai Jiading Yingyuan Hospital has constructed a new interdisciplinary team collaboration model for palliative care from the perspective of integrated medical theory, and applied this model to clinical practice. By elaborating on the theory of team integration, member composition and division of labor, implementation process and preliminary effects, this study aims to provide a theoretical basis and reference for other regions to carry out the integration path and collaborative model of interdisciplinary services in palliative care.

Objective To explore the effect of Yunnan specialty rice products on blood sugar by measuring the glycemic index of 5 Yunnan special rice foods:rice noodles,rice cakes,rice rolls,sour rice noodles and dry rice noodles.Methods Following the national standard method to determine the carbohydrate content of 5 Yunnan specialty rice products,and the target amount of the test substance was calculated.Food Glycemic Index Determination Method was used to determine the glycemic index of 5 Yunnan specialty rice products and observe their impact on blood sugar.Results The GI value of Yunnan specialty food rice noodle is 63,rice cake is 64,rice roll is 46,sour rice noodles is 38,and dry rice noodles is 33.Conclusion Yunnan specialty foods rice noodle and rice cake belong to medium GI foods,and diabetes patients should reduce consumption;rice roll,sour rice noodles,and dry rice noodles belong to low GI foods and can be a better staple food source for diabetes patients.

Objective:To analyze the thalassemia screening and genotyping in Southwest Guizhou Autonomous Prefecture (referred it as Qianxinan Prefecture), this essay provides the theoretical reference for clinical diagnosis of thalassemia and suspicious cases.Methods:The pregnant women, spouses and neonates who were screened for thalassemia gene in Qian Xi Nan People's Hospital from January 2016 to December 2020 were selected as the research subjects, and peripheral blood or umbilical cord blood samples were collected to extract DNA. The gap-polymerase chain reaction (Gap-PCR) and next-generation sequencing (NGS) technology were used to screen thalassemia, and ArcMap 10.8 software was adopted to map the local spatial distribution of thalassemia based on the screening data.Results:A total of 67 185 cases of people from various regions in Qianxinan Prefecture were screened, and 8 202 cases of thalassemia gene carriers were detected, with a total detection rate of 12.21%. Among them, 5 660 cases of α-thalassemia, with a detection rate of 8.42%; 2 132 cases of β-thalassemia, with a detection rate of 3.17%; 410 cases of αβ complex thalassemia, with a detection rate of 0.61%. In the detection of thalassemia genes, 27 genotypes of α-thalassemia were detected, mainly αα/-α 3.7, accounting for 41.13% (2 328/5 660); 33 genotypes of β-thalassemia were detected, mainly β CD17(A>T)/β A, accounting for 44.09% (940/2 132); 55 genotypes of αβ complex thalassemia were detected, and αα/-α 3.7 complexed β CD17(A>T)/β A dominated, accounting for 21.22% (87/410). There were high incidence areas in the spatial distribution of thalassemia, which were Wangmo County and Ceheng County, and the detection rate was 26.76% (1 438/5 374), 24.39% (1 314/5 387), respectively. Conclusions:The detection rate of thalassemia gene in Qianxinan Prefecture is relatively high, mainly αα/-α 3.7 genotype of α-thalassemia. Wangmo County and Ceheng County are high-incidence areas of thalassemia, and screening efforts should be continued.

Objective: To investigate the expression of miR-155 in peripheral blood of type 2 diabetes patients(T2 DM) associated with diabetic foot ulcer(DFU) and its relationship with the onset of DFU. Methods: Sixty newly diagnosed T2 DM patients without DFU(T2 DM group), 112 T2 DM patients with DFU(DFU group), and 60 healthy controls with normal glucose tolerance(NC group) were included. MiR-155 levels were determined by quantitative real-time PCR, while clinical features and risk factors of DFU were explored. Results: A significant decrease in the expression level of miR-155 in peripheral blood was observed in T2 DM group compared with NC group(P<0.05), and a markedly increased miR-155 expression level was noted in DFU group compared with T2 DM group(P<0.01). Moreover, there was a positive correlation between the expression level of miR-155 in peripheral blood and the course of foot ulcer and Wagner grade of foot ulcer(P=0.02,P=0.01) while a negative correlation in the expression level of miR-155 with healing rate of DFU after eight weeks(P=0.04). The multiple stepwise logistic regression analysis confirmed that a high expression of miR-155 was an independent risk factor for DFU(OR=3.98,P=0.002). Conclusion An increased expression of miR-155 in peripheral blood of T2 DM patients is an independent risk factor for DFU and is closely related to the prognosis of DFU.