Zhonghua yi xue za zhi最新文献

Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disorder caused by mutations in the PKLR gene, encoding erythrocyte pyruvate kinase, which affects erythrocyte energy production, and then in turn affects erythrocyte function and longevity. PKD is characterized by chronic hemolytic anemia, and other features include chronic hemolytic complications, such as iron overload, decreased bone mineral density, and cardiopulmonary complications. The treatment of PKD requires individualized approach based on the patient's condition, including red blood cell transfusions, pyruvate kinase activators, and treatment for complications. This consensus focuses on the pathogenesis, clinical characteristics, diagnosis and treatment of PKD, and aims to provide better medical service for clinicians, such as diagnosis, treatment, monitoring, and prevention of complications for PKD patients.

Objective: To assess the efficacy and safety of genicular artery embolization (GAE) in the management of pain secondary to knee osteoarthritis (KOA). Methods: Literature search was conducted on PubMed, Web of Science, Cochrane Library, Embase, and Wanfang databases to collect literatures related to KOA, GAE and therapeutic effects. The search period was from the inception of the databases to July 2024. Literature screening and data extraction were carried out independently by two researchers according to the inclusion and exclusion criteria, and the quality of the included literature was assessed using the methodological index for non-randomized studies. Data extracted included visual analog scale (VAS) scores, total western ontario and mcmaster universities osteoarthritis index (WOMAC) scores, and the incidence of adverse events, followed by a meta-analysis using STATA 15.1 software. Results: A total of 11 papers involving 332 patients (419 knees) from 11 studies were included according to the Na-row criteria. The technical success rate was 100%. The standardized mean differences of VAS scores at 1, 3, 6, and 12 months postoperatively were -2.42(95%CI:-2.89--1.95), -2.44(95%CI:-2.94--1.93), -2.57(95%CI:-3.13--2.01), and -2.60(95%CI:-3.37--1.84), respectively, all showing decreases (all P<0.001); the weighted mean difference of WOMAC total score at 1, 3, 6, and 12 months after surgery were -24.44(95%CI:-29.13--19.75), -28.30(95%CI:-31.47--25.12), -30.66(95%CI:-32.94--28.37), and -34.23(95%CI:-44.39--24.07), all showing decreases (all P<0.001). The incidence of adverse events mainly included skin color changes of 16.4%(95%CI: 5.5%-31.0%, P<0.001) and hematoma at the puncture site 3.8%(95%CI: 1.1%-7.6%, P<0.001), with the majority being mild and self-resolving. Conclusions: GAE treatment for KOA secondary pain has good efficacy and safety, providing a new treatment option for KOA patients as a minimally invasive procedure.

Objective: To explore the effectiveness and safety of direct oral anticoagulant rivaroxaban and low molecular weight heparin (LMWH) in the treatment of tumor patients with venous thromboembolism (VTE). Methods: A retrospective analysis was conducted on 296 patients diagnosed with tumor associated VTE in the Shanghai Pulmonary Thromboembolism Database from December 2020 to September 2022. Patients were grouped according to the prescription of anticoagulant drugs. Thirteen baseline variables [age, gender, smoking history, physical state (PS) score, tumor type, tumor stage, tumor treatment method, hemoglobin, platelets, D-dimer, creatinine, alanine aminotransferase, and VTE site] were matched. After matching, 100 cases were assigned to rivaroxaban group, including 64 males and 36 females, aged [M (Q₁, Q₃)] 70 (62,74) years old; There were 100 cases in the LMWH group, including 69 males and 31 females, aged 68 (60,73) years old. Kaplan-Meier method was used to plot survival curves. The differences between the rivaroxaban group and LMWH group in 6-month cumulative VTE recurrence rate, clinically significant bleeding rate, and all-cause mortality rate were analysed using log-rank test. Results: There were no statistically significant differences between the rivaroxaban group and the LMWH group in the 6-month cumulative VTE recurrence rate [13.5% (95%CI: 6.4%-20.1%) vs 7.5% (95%CI: 2.0%-12.7%), P=0.171], bleeding incidence rate [9.2% (95%CI: 3.3%-14.8%) vs 6.2% (95%CI: 1.3%-10.9%), P=0.438] and all-cause mortality rate [8.0% (95%CI: 2.5%-13.2%) vs 10.0% (95%CI: 3.9%-15.7%), P=0.602]. Conclusion: The anticoagulant efficacy and safety of rivaroxaban and LMWH are comparable in tumor patients with VTE.

Human respiratory syncytial virus (RSV) is a major pathogen causing lower respiratory tract infections in humans. It is particularly a common cause of hospitalization among high-risk groups such as infants, tots, and the old people, imposing a heavy burden on families and society. The standardized treatment and prevention of this disease are increasingly emphasized by healthcare professionals. However, there are currently no standardized guidelines in China for lower respiratory tract infections caused by RSV. Therefore, our group for this guideline has developed the "Guidelines for the treatment and prevention of lower respiratory tract infections caused by human respiratory syncytial virus (2024 edition)" based on the latest evidence-based medical evidence and guideline development methods. The aim is to provide guidance to relevant healthcare professionals and improve prevention and treatment levels.

Objectives: In the 2022 European Society of Cardiology/European Respiratory Society (ESC/ERS) guidelines, the hemodynamic definition of pulmonary hypertension (PH) was revised to mean pulmonary arterial pressure (mPAP)>20 mmHg (1 mmHg=0.133 kPa) at rest. This study aimed to evaluate the impact of the revised hemodynamic definition on the diagnosis of PH. Methods: Patients with dyspnea or highly suspected PH who underwent right heart catheterization (RHC) in Beijing Anzhen hospital affiliated to Capital Medical University from September 2021 to October 2022 were enrolled retrospectively. According to resting hemodynamics, the patients were divided into 3 groups: no-PH (mPAP≤20 mmHg) group, low-pressure PH (20 mmHgmax) and mPAP/cardiac output (CO) slope of multi-point in PH. Results: A total of 117 patients were included for analysis, the age was (53.7±17.5) years, 37 (31.6%) patients were male. According to the 2022 ESC/ERS definition, 99 patients were diagnosed as PH, including 8 patients (6.8%) in the low-pressure PH group and 91 patients (77.8%) in the high-pressure PH group. There were 18 patients (15.4%) in the non-PH group. Comparing to the 2015 ESC/ERS definition, 8 patients were newly diagnosed as PH. Echocardiography indexes pulmonary systolic pressure (sPAP) [(57.6±7.3) vs (38.5±13.6) mmHg], max tricuspid regurgitation velocity (TRV_max) [(360.4±28.9) vs (271.4±52.2) cm/s] and RHC index mPAP [(22.2±1.3) vs (16.1±2.6) mmHg] in low-pressure PH group were higher than those in no-PH group (all P<0.05). However, further analysis of hemodynamics during exercise showed mPAP_max [(42.1±5.6) vs (35.6±4.7) mmHg, P=0.006] and mPAP/CO slope of multi-point [(4.9±1.3) vs (3.6±1.1) mmHg·L^-1·min^-1,P=0.024] in low-pressure PH group were higher than those in no-PH group. The ROC curve cut-off value of mPAP_max for the diagnosis of PH was 39 mmHg, with a sensitivity of 75.0%, a specificity of 76.5%, and the area under the curve (AUC) and 95%CI is 0.816 (0.638-0.994). The ROC curve cut-off value of mPAP/CO slope of multi-point for the diagnosis of PH was 4.44 mmHg·L^-1·min^-1,with a sensitivity of 75.0%, a specificity of 76.5%, and an AUC (95%CI) of 0.794 (0.606-0.983). Conclusion: After the revision of the hemodynamic definition of PH in the 2022 ESC/ERS guidelines, more PH patients with pulmonary vascular disease are detected, thereby facilitating early diagnosis and treatment.

With the increasing age of patients with pulmonary arterial hypertension (PAH) at diagnosis, multiple comorbidities are more and more common in these patients, especially cardiopulmonary diseases. This article introduces the incidence of PAH combined with cardiovascular disease and/or chronic lung disease, elaborates on the impact of cardiopulmonary comorbidities on the diagnosis, prognosis, and targeted drug treatment strategies of PAH, and proposes management recommendations for PAH patients with comorbidities, aiming to further improve the diagnosis and treatment level of pulmonary hypertension.

Objective: To analyze the survival status and prognostic factors of patients with hereditary hemorrhagic telangiectasia-associated pulmonary arterial hypertension (HHT-PAH). Methods: This prospective study included patients diagnosed with HHT-PAH at the Fuwai Hospital of the Chinese Academy of Medical Sciences and Guangdong General Hospital from August 2009 to December 2019. Patients were followed up every 6 months±2 weeks, with all-cause mortality as the study endpoint. Multivariate Cox proportional hazards regression mode was used to further screen and validate the prognostic factors. Survival curves were plotted using the Kaplan-Meier method, and the log-rank test was used to compare the survival time differences between patients with and without hepatic arteriovenous malformations. Results: A total of 18 HHT-PAH patients were included, with 14 females (77.8%) and a median age [M (Q₁, Q₃)] of 39 (32, 45) years. The median follow-up time was 129 (51, 156) months. During the follow-up period, 12 patients (66.7%) died, with a median survival time of 70 (32, 123) months. The 1-year, 3-year, 5-year, and 10-year survival rates were 100.0%, 70.8%(95%CI: 52.3%-96.0%), 53.1%(95%CI: 34.0%-83.0%), and 26.6%(95%CI: 10.6%-66.4%), respectively. HHT-PAH patients with hepatic arteriovenous malformations had a shorter median survival time than those without hepatic arteriovenous malformations [31.0 months (95%CI: 16.6-45.4 months) vs 84.0 months (95%CI: 54.4-113.6 months), P=0.024]. Cox proportional hazards regression analysis showed that hepatic arteriovenous malformation (HR=4.493, 95%CI: 1.064-18.978) was a risk factor for all-cause mortality in HHT-PAH patients. Conclusions: The 10-year survival rate of HHT-PAH patients is poor. The presence of hepatic arteriovenous malformations is a risk factor for mortality in HHT-PAH patients.

Objective: To explore the relevant factors associated with poor prognosis in patients suffering from chronic obstructive pulmonary disease (COPD) combined with pulmonary embolism (PE), and investigate the predictive value of the simplified pulmonary embolism severity index (sPESI) score on adverse outcomes in these patients. Methods: A total of 168 patients with COPD and PE who were treated at West China Hospital of Sichuan University from January 1, 2018, to December 30, 2020 were retrospectively included. Patients were divided into adverse outcome group and control group based on the occurrence of adverse outcomes [any of the following events: in-hospital death, intensive care unit (ICU) admission, and endotracheal intubation]. Correlation factors for poor prognosis were explored using multivariate logistic regression analysis. Receiver operating characteristic (ROC) curve was employed to assess the predictive value of the sPESI score for adverse outcomes in COPD patients with PE. Results: A total of 168 patients were studied, with an age of (73.4±10.4) years and 119 male (70.8%). In the adverse outcome group, there were 18 cases (10.7%), including 12 in-hospital deaths, 6 ICU admission, and 1 endotracheal intubation. The control group comprised 150 cases (89.3%). Statistically significant differences were observed between two groups regarding the proportion of patients with diabetes, nephrotic syndrome, severe pneumonia, respiratory failure and lower extremity edema, and the pulse, diastolic blood pressure, pulse oxygen saturation, lactate dehydrogenase and cholesterol levels (all P<0.05). Multivariate logistic regression analysis revealed that severe pneumonia, respiratory failure, lower extremity edema, and diastolic blood pressure<60 mmHg (1 mmHg=0.133 kPa) are correlative factors of adverse outcomes in patients with COPD complicated by PE [OR (95%CI) were 7.363 (1.053-51.772), 4.077 (1.030-16.133), 4.490 (1.131-17.832), and 8.060 (1.209-53.918), respectively, all P<0.05]. The sPESI score in the adverse outcome group was higher than that in the control group [M (Q₁, Q₃), 2 (2, 2) vs 1 (1, 2) score, P=0.006]; the optimal cutoff value for sPESI score was 2 score, the sensitivity was 77.8%, the specificity was 54.0%, and the area under the curve (AUC) and 95%CI were 0.681 (0.554-0.809) based on the ROC curve analysis. Patients with sPESI≥2 score exhibited a 4.109-fold (95%CI: 1.292-13.063, P=0.017) increased risk of adverse prognosis compared to those with sPESI<2 score. Conclusions: Patients with COPD combined with PE have a higher incidence of adverse prognostic outcomes. Severe pneumonia, respiratory failure, lower limb edema, and diastolic pressure<60 mmHg are associated factors for poor prognosis. The sPESI score has some value in predicting adverse outcomes in COPD patients with PE.

Objective: To analyze the incidence and risk factors of congenital heart disease (CHD) in Qingdao. Methods: A prospective study was adapted, and study participants were pregnant women who underwent prenatal screening in Qingdao from August 2018 to June 2020 and their offspring (the whole population coverage). CHD in neonates was screened by using the pulse oximetry saturation and heart auscultation, and the final diagnosis was determined by the result of echocardiography. Multivariable logistic regression was performed to analyze the risk factors of CHD. Results: The study included 115 238 live births, among which 709 were diagnosed with CHD, with an incidence of 6.15/1 000. Ventricular septal defect, atrial septal defect, as well as ventricular septal defect and atrial septal defect were the main CHD subtypes, with incidences of 2.97/1 000 (342/115 238), 1.01/1 000 (116/115 238), and 0.39/1 000 (45/115 238), respectively, comprising 48.2% (342/709), 16.4% (116/709), and 6.3% (45/709) of the CHD cases. The results of multivariable logistic regression showed that the offspring of women with a graduate degree (compared to junior high school or below) (OR=1.66, 95%CI: 1.15-2.40), pregnancy history of CHD (OR=9.50, 95%CI: 5.37-16.81), pregestational diabetes mellitus (OR=3.40, 95%CI: 1.58-7.32) had a higher risk of having CHD, whereas the offspring of multiparous women was associated with a lower risk of CHD (OR=0.84, 95%CI: 0.71-0.99). In addition, compared with male newborns, female newborns have a higher risk of having CHD (OR=1.18, 95%CI: 1.01-1.39). Conclusions: The incidence of CHD in Qingdao is 6.15/1 000, with ventricular septal defect, atrial septal defect, as well as ventricular septal defect and atrial septal defect being the main subtypes. Maternal education, parity, pregnancy history of CHD, pregestational diabetes mellitus, and offspring gender are associated with CHD occurrence.