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To explore the clinical characteristics of patients with Fabry disease (FD) and the potential influencing factors, as well as to analyze the main factors affecting the quality of life (QOL) of FD patients. The clinical data of 21 adult FD patients who were hospitalized and treated at the University of Hong Kong-Shenzhen Hospital from January 2022 to December 2023 were retrospectively analyzed, including questionnaire data from 17 of these patients. The total score of the Short Form 36 Health Survey (SF-36) was used to determine the QOL. The patient's average age was (42±9) years, including 13 males (61.9%). All patients belonged to 17 families and had a total of 14 gene mutation types. The c.640-801G>A mutation was the most common type, found in 4 patients (19.0%), with cardiac damage as the primary manifestation. The c.901C>T mutation led to lesions in the heart, brain, and kidneys, and early onset and severe phenotypes were detected in female patients. Male patients had lower total SF-36 scores than females (P<0.05). Patients with proteinuria, stroke, hypohidrosis/anhidrosis, and cardiac insufficiency had lower total SF-36 scores compared with those without these symptoms (all P<0.05). The current study indicates that the clinical phenotypes of patients with FD are influenced by a combination of gender, genotype, and non-genetic factors, and gender and clinical symptoms serve as the primary factors affecting patient's QOL.

The diagnosis and treatment of heart failure comorbidities present a significant clinical challenge, as these comorbidities significantly affect patient prognosis. The causes of heart failure comorbidities are complex, and the underlying mechanisms are not fully understood. Moreover, traditional heart failure management methods are inadequate in addressing these issues. Improving the management and treatment of comorbidities can significantly enhance patient quality of life and prognosis. This requires clinicians to have a comprehensive understanding of heart failure and its comorbidities and to be capable of devising effective treatment plans. Multidisciplinary management should be utilized to create individualized treatment plans for heart failure patients to better address the challenges of multiple comorbidities. Clinicians need to have a broad perspective and employ systematic approaches to improve treatment outcomes. This article emphasizes the importance of individualized and multidisciplinary management strategies in the treatment of heart failure comorbidities, aiming to provide a systematic solution to enhance patient quality of life and improve prognosis.

Objective: To investigate the clinical and imaging characteristics of patients with myelin oligodendrocyte glycoprotein antibody (MOG-IgG)-associated disease (MOGAD) with different MOG-IgG seroconversions, and to analyze the factors affecting the conversion. Methods: Retrospective study. Patients diagnosed with MOGAD in the Department of Neurology, Beijing Tongren Hospital, Capital Medical University from January 2019 to April 2023 were included and the follow-up ended in May 2024. The clinical and imaging characteristics of MOG-IgG negative conversion group and non-negative conversion group were compared. A multivariate logistic regression model was used to analyze the influencing factors of MOG-IgG negative conversion. Results: A total of 51 patients were enrolled, including 23 males and 28 females, aged (38.3±16.4) years. There were 14 cases (27.5%) in the negative conversion group and 37 cases (72.5%) in the non-negative conversion group. The proportion of patients with initial serum MOG-IgG titer<1∶100 (10/14) and the proportion of patients with first attack (11/14) at the inception in the negative conversion group were higher than those in the non-negative conversion group [40.5% (15/37), 21.6% (8/37), P<0.05]. The annual relapse rate (ARR) of the negative conversion group was [M(Q₁, Q₃)]0 (0, 0.2) and was significantly lower than that of the non-negative conversion group 0.5(0.1, 1.0) (P=0.001). No spinal cord involvement was found in the clinical classification and imaging of the negative conversion group, and 7/14 of the optic nerve MRI was only involved in the intraorbital segment, which was higher than that of the non-negative conversion group [13.5%, (5/37), P=0.018]. The median follow-up time was 18.1 (14.3, 37.3) months, and the median time from initial onset to serum MOG-IgG negative was 4.5 (2.8, 11.5) months in the negative conversion group, two cases in the negative conversion group relapsed after continuous negative conversion, one case relapsed with MOG-IgG positive and the other with negative. The first attack at the inception (OR=86.788, 95%CI: 1.436-5 244.198, P=0.033) and the low initial serum MOG-IgG titer (OR=10.840, 95%CI: 1.239-94.845, P=0.031), the more likely MOG-IgG seroconversion would be negative. Conclusions: Only the orbital segment of the optic nerve involvement without spinal cord involvement was more common in patients with MOG-IgG negative conversion. MOGAD patients with a first clinical attack and low initial MOG-IgG titer were more likely MOG-IgG seroconversion negative.

This study was to investigate the clinical features of chronic obstructive pulmonary disease (COPD) patients with concurrent acute myocardial infarction (AMI) and analyze the occurrence of in-hospital adverse events. Patients with AMI who were admitted to Beijing Chaoyang Hospital from January 2019 to August 2023 were retrospectively collected. All patients were divided into COPD with concurrent AMI group and simple AMI group according to whether they were with concurrent COPD. All patients received interventional treatment for AMI. The clinical features and the occurrence of in-hospital adverse events were compared between the two groups. A total of 183 AMI patients aged (65.6±13.6) years were enrolled, including 142 males (77.6%). There were 94 patients (51.4%) in simple AMI group and 89 patients (48.6%) in COPD with concurrent AMI group, respectively. Patients in COPD with concurrent AMI group were older, had higher Killip grade, rate of smoking and previous percutaneous coronary intervention history, creatinine and B-type natriuretic peptide levels, and lower albumin, hemoglobin, low-density lipoprotein cholesterol, white blood cell count and cardiac troponin I than those of simple AMI group (all P<0.05). There were no significant differences in echocardiographic parameters between the two groups (all P>0.05). The proportion of β-blockers, angiotensin-converting enzyme inhibitors/angiotensin-blockers used in COPD with concurrent AMI group was lower (P<0.05). Patients in COPD with concurrent AMI group had longer length of hospital stay than those in simple AMI group (P=0.028). The incidence of primary endpoint events in COPD with concurrent AMI group was higher than that in simple AMI group (27.0% vs 18.0%, P=0.002). The current study indicates that COPD patients with concurrent AMI have longer length of hospital stay and higher incidence of in-hospital events, which are worthy of significant attention in clinical practice.

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.