National Medical Journal of China
Volume 105 · Issue 15 · 2025
Natl Med J China
Refractory gout is a challenge in clinical practice. Exogenous uricase, as an enzyme replacement therapy, can break down uric acid into allantoin, rapidly reduce serum levels of uric acid and dissolve tophi. Currently approved uricase drugs include pegloticase and rasburicase. Pegloticase has been approved in the United States for refractory gout, but it is not yet available in China. Rasburicase is approved domestically for controlling serum uric acid levels in pediatric patients with leukemia and lymphoma. This article elaborates on the mechanism of uricase drugs in treating gout, the current status of pegloticas in managing refractory gout, the practical application of rasburicase in refractory gout cases, and the progress in research and clinical practices aimed at reducing anti-uricase antibodies. The aim of this article is to provide a reference for the rational use of uricase drugs in refractory gout and to enhance the therapeutic efficacy for this challenging condition.
Type 2 diabetes mellitus (T2DM) and metabolic dysfunction-associated steatotic liver disease (MASLD) are two common chronic diseases, which are closely interconnected and mutually risk factors. The high prevalence and poor prognosis of T2DM and MASLD have substantially affected the healthcare of the people. They are focuses of public health problems in China, resulting in an increasing burden of medical and healthcare systems. Based on the current management of T2DM combined with MASLD, the paper aims to clarify the necessity of co-management of the two diseases, to introduce the "co-management of diabetes-liver disease" strategy, and to outline future direction.
In recent years, the rapid development of artificial intelligence (AI) has brought innovative opportunities to diabetes management, with significant application potential in various aspects such as prevention, screening, diagnosis, and treatment of diabetes. Through big data analysis, AI can achieve precise diabetes sub-typing and further promote personalized treatment. In terms of complication screening, AI can efficiently identify diabetic retinopathy, aiding in early diagnosis and treatment of complications. Combined with continuous glucose monitoring technology, AI can remotely assist in diabetes management through various novel glucose monitoring metrics and algorithms. The AI-based closed-loop insulin pump can automatically adjust insulin infusion, increasing glucose time in range and reducing the risk of hypoglycemia. However, this technological wave is also accompanied by multiple challenges: data privacy disputes, insufficient algorithm interpretability, and delays in clinical validation, which hinder its widespread clinical applications. While AI demonstrates high efficiency in supporting clinical decision-making, complex case management and psychological care should still be dominated by physicians. In the future, the "physician+AI" collaborative pattern will combine humanistic care with technology to optimize diabetes management together.
The number of elderly diabetes patients is increasing with the population aging, showing significant health complexities and individual variations, often with cognitive impairments, which increases the difficulties in self-management and the risk of hypoglycemia. Recent advances in diabetes technology, such as continuous glucose monitoring, smart insulin pens, needle-free insulin injections, and insulin pumps, have enhanced the precision and convenience of blood glucose management, significantly improving blood sugar control and quality of life for elderly diabetic patients. However, elderly patients face challenges with operational complexity, psychological burden, and economic costs when using these technologies. In the future, with further technological innovations and policy support, these technologies are expected to integrate with smart platforms, promoting comprehensive management of diabetes in the elderly.
The prevalence of diabetes is high in China, and diabetes needs precise management. In view of the complexity and heterogeneity of type 2 diabetes, personalized management should be carried out during anti-diabetic therapy to improve the precision of treatment. The paper aims to explain the factors that need to be considered in the personalized treatment of type 2 diabetes, including medical factors, patient factors, psychosocial factors and technological factors, so as to provide help for the implementation of personalized treatment of type 2 diabetes.
Children with skull defects after decompressive craniectomy face issues such as lack of brain protection and aesthetics during the recovery period, which also affect the recovery of brain structure and function and hinder subsequent rehabilitation. The skull of pediatric patients is still in the growth and development stage, with head circumference changing with age, and there are characteristics such as easy bone hyperplasia and absorption. Therefore, the timing, materials, methods and other problems of skull reconstruction for pediatric patients have always been puzzling clinical practice. The Chinese Congress of Neurological Surgeons of Chinese Medical Doctor Association, the Chinese International Association of Pediatric Neurosurgeons, and the Expert Consensus Collaboration Group on Skull Defect Reconstruction after Decompression Craniectomy for Children jointly organized relevant domestic experts to adopt the Delphi method and combine literature analysis and expert experience to form a total of 27 recommendations on the necessity, timing, materials, surgical precautions, complications and other aspects of reconstruction, hoping to provide important reference for skull defect reconstruction surgery after decompression craniectomy for children.
To evaluate and compare surgical outcomes of orthopedic correction in neuromuscular scoliosis (NMS) patients with or without excessive lumbar lordosis, and to analyze the impact of excessive lumbar lordosis on treatment efficacy.
The case data of 102 patients with severe NMS were retrospectively analyzed, there were 34 males and 68 females. The patients underwent surgical treatment at Nanjing Gulou Hospital from April 2008 to June 2022; the age M(Q1, Q3) was 18(12, 26) years. There were 25 cases of cerebral palsy, 7 cases of spinal cord bulge, 28 cases of myopathy, 12 cases of post-traumatic paraplegia, and 30 cases of poliomyelitis. The patients were divided into 2 groups according to the degree of preoperative lumbar lordosis: 62 patients with lumbar lordosis<70° (non-hyperlordotic group) and 40 patients with lumbar lordosis≥70° (hyperlordotic group). Radiographic parameters were evaluated preoperatively, postoperatively, and at final follow-up, including scoliosis Cobb angle, thoracic kyphosis (TK), lumbar lordosis (LL), pelvic incidence (PI), pelvic tilt (PT), sacral slope (SS), pelvic obliquity (PO), and SVA. Postoperative complications and follow-up outcomes were compared between groups. The Scoliosis Research Society-22 (SRS-22) questionnaire was administered preoperatively and at final follow-up to assess clinical outcomes in both groups.
No statistically significant differences were observed in age and gender distribution between the hyperlordotic and non-hyperlordotic groups (all P>0.05). The hyperlordotic group demonstrated greater preoperative Cobb angles and lumbar lordosis compared to the non-hyperlordotic group (all P<0.01). Operative time was significantly longer in the hyperlordotic group (374±59) min compared to the non-hyperlordotic group (295±42)min (P<0.001), with intraoperative blood loss of (2 018±978) ml and (1 603±805) ml, respectively (P=0.028).Significant postoperative correction was obtained in both coronal and sagittal planes in both groups, and there was a significant difference in coronal Cobb angle and sagittal LL at the last follow-up compared with the immediate postoperative period in both groups (both P<0.05). Complications in the hyperlordotic group included seven cases of malpositioned screws, one postoperative hematoma, two deep surgical site infections, and one case of major intraoperative hemorrhage. The non-hyperlordotic group experienced four cases of screw malposition, two dural tears, and two cases of proximal junctional kyphosis (PJK). The incidence rate of complications in the hyperlordotic group and non-hyperlordotic group was 32.50% (13/40) and 9.68% (6/62), respectively (P=0.004). Preoperative SRS-22 total scores were lower in the hyperlordotic group compared to the non-hyperlordotic group (1.84±0.25 vs 2.65±0.26, P<0.001). Both groups showed significant improvement postoperatively (3.54±0.20 vs 3.45±0.45), with no statistically significant difference between groups (P=0.287).
Compared with patients without lumbar hyperlordosis, orthopedic surgical treatment of NMS patients with hyperlordosis is more difficult than orthopedic treatment of patients with normal lumbar lordosis, greater intraoperative blood loss, and higher complication rates. Nevertheless, spinal corrective surgery effectively improved quality of life in NMS patients with hyperlordosis.
To analyze the clinical phenotype and ATP7B variants characteristics of patients with hepatolenticular degeneration (HLD) from Anhui Province.
A retrospectively analysis was performed on Anhui patients (337 cases) diagnosed with HLD in the First Affiliated Hospital of Anhui University of Chinese Medicine from September 2016 to August 2019. Their onset symptoms, onset age, diagnosis age, serum ceruloplasmin level, corneal K-F ring state, and ATP7B variants information were collected. According to the onset characteristics of the patients, they were divided into hepatic type, cerebral type, asymptomatic type, and other types. The differences in clinical characteristics between the hepatic type and the cerebral type patients, as well as the onset age of common genotype patients were compared.
Among the 337 patients, there were 213 males and 124 females, with an age of onset ranging from 2.0 to 62.6 years[(15.9±9.5) years]. Among them, 89 cases (26.4%) were hepatic type, 171 cases (50.7%) were cerebral type, 68 cases (20.2%) were asymptomatic type, and 9 cases (2.7%) were other types. There were no statistically significant differences in gender ratio, onset age, diagnosis age, ceruloplasmin level, and positive tate of corneal K-F ring between the hepatic type and the cerebral type patients (all P>0.05). A total of 109 types of ATP7B gene variants were detected, among which the most common were c.2333G>T (p.R778L), c.2975C>T (p.P992L), and c.2621C>T (p.A874V), with allele frequencies of 33.1%, 15.7%, and 3.9%, respectively. Among the 296 patients with≥ATP7B gene variants detected, a total of 160 different genotypes were found. Among them, the patients with the p.R778L/p.V1106I genotype in the hepatic type group had the latest age of onset[(31.0±11.8) years], and the patients with the p.R778L/p.A874V genotype in the cerebral type group had the latest age of onset[(29.1±13.5) years].
There are no difference in gender ratio, onset age, diagnosis age, ceruloplasmin level, and positive rate of corneal K-F ring between the hepatic type and the cerebral type patients. p.R778L, p.P992L, and p.A874V are the most common ATP7B variants, with the patients of p.R778L/p.A874V and p.R778L/p.V1106I genotypes exhibiting a later onset age.
To analyze the short-term prognosis and influencing factors of patients with upper gastrointestinal bleeding combined with stable coronary artery disease (CAD).
Retrospective analysis was performed on patients with upper gastrointestinal bleeding admitted to Beijing Anzhen Hospital Affiliated to Capital Medical University for emergency gastroscopy treatment from January 2022 to December 2023. All patients were followed up until 30 days after discharge, and the deadline for follow-up was February 2024. They were divided into the combined group (patients with stable CAD) and the non-combined group according to whether they were complicated with CAD.The difference in clinical characteristics and prognosis of the both groups were compared. Based on whether adverse events occurred, the CAD group was further divided into the poor prognosis group (patients with rebleeding or new cardiovascular and cerebrovascular ischemic events) and the good prognosis group. The differences of the clinical data between the two subgroups were compared. Furthermore, receiver operating characteristic (ROC) curve was used to determine cut-off value. Multivariate logistic regression model was used to analyze the influencing factors of poor prognosis in patients with upper gastrointestinal bleeding combined with stable CAD.
A total of 273 patients were included, including 95 cases in the combinde group [71 males and 24 female, aged (63.4±9.7) years ] and 178 cases in non-combined group [119 males and 59 females, aged (61.5±15.9) years]. Each patient was followed up for 30 days. The patients in the CAD group had higher Glasgow-Blatchford scores [M (Q1, Q3) was 12 (10, 15) vs 8 (7, 11) score] and Rockall scores[6 (5, 7) vs 4 (2, 4) score] than those in the non-combined group; The combined group had a higher incidence of rebleeding [7.4% (7/95) vs 1.1% (2/178)], the incident of new ischemic events [8.4% (8/95) vs 0], the incidence of acute myocardial infarction [6.3% (6/95) vs 0] and morality [3.2% (3/95) vs 0] were higher than those of the non-CAD group (all P<0.05). There were 15 cases in the poor prognosis group, including 10 males and 5 females, aged (65.1±8.4) years. And there were 80 cases in the good prognosis group, including 56 males and 24 females, aged (63.1±10.0) years. The lowest hemoglobin level in the poor prognosis group was lower than that in the good prognosis group [ 65 (59, 73) vs 76 (66, 86) g/L]; The Glasgow-Blatchford score in the poor prognosis group was higher than that in the good prognosis group [16 (15, 17) vs 11 (10, 14) score] (all P<0.05). The area under the ROC curve of the Glasgow-Blatchford score was 0.868 (95%CI: 0.791-0.945), the cut-off value was 13.5 score, and the sensitivity and specificity were 93.3% and 30.0%, respectively. Glasgow-Blatchford score>13.5 score was a risk factor for adverse events in patients with upper gastrointestinal hemorrhage combined with stable CAD (OR=21.372, 95%CI: 2.482-184.007).
The incidence of short-term adverse events in patients with upper gastrointestinal bleeding combined with stable CAD is higher than that in non-combined group. The Glasgow-Blatchford score>13.5 score is a risk factor for short-term adverse events in patients with upper gastrointestinal bleeding combined with CAD.
To evaluate the efficacy of systemic glucocorticoid (GC) on preventing postextubation upper airway obstruction (UAO) in children.
Clinical data were retrospectively collected from the children with an intubation duration of ≥48 hours in the Department of Pediatric Intensive Care Unit (PICU) of Beijing Children′s Hospital, Capital Medical University, from January 1, 2021 to December 31, 2021. The patients were divided into the GC-using group and the non-GC-using group according to whether systemic GC was used within 24 hours before extubation. The incidence of postextubation UAO and extubation failure were compared between the two groups. GC-related adverse effects were recorded. Additionally, the effects of systemic GC administration within 24 hours before extubation on postextubation UAO and extubation failure were evaluated. Multivariable logistic regression analysis was performed to determine the infiuencing factors for postextubation UAO and extubation failure. To further assess the impact of systemic GC administration within 24 hours before extubation on postextubation UAO, subgroup analyses were conducted based on patient characteristics that could influence GC efficacy, including sex, age, intubation reason, and intubation duration.
A total of 206 children were enrolled. There were 109 cases in the GC-using group, including 65 males and 44 females, age [M (Q1, Q3)] was 32 (12, 87) months. There were 97 in the non-GC-using group, including 70 males and 27 females, aged 26 (7, 86) months. The incidence of postextubation UAO [17.4% (19/109) vs 36.1% (35/97), P=0.002] and extubation failure [2.8% (3/109) vs 11.3% (11/97), P=0.015] was lower in the GC-using group compared with the non-GC-using group. The most common GC-related adverse effect was new-onset infections (15.6%, 17/109), followed by upper gastrointestinal bleeding (6.4%, 7/109), hyperglycemia (5.5%, 6/109), and hypertension (2.8%, 3/109). Multivariable logistic regression analysis showed that systemic GC use within 24 hours before extubation was negatively associated with postextubation UAO (OR=0.386, 95%CI: 0.198-0.753) and extubation failure (OR=0.234, 95%CI: 0.063-0.871). Subgroup analysis showed that the efficacy of using systemic GC within 24 hours before extubation in reducing postextubation UAO incidence was not influenced by sex, age, intubation reason or intubation duration (all Pinteraction>0.05).
Systemic GC may be effective in preventing postextubation UAO in children.
This study evaluated the efficacy and safety of Naldemedine, an oral peripheral μ-opioid receptor antagonists (PAMORAs), in cancer patients with opioid-induced constipation (OIC). A single-center, single-arm, prospective real-world trial was conducted, enrolling 12 patients aged 18 years and above who had been on stable opioid analgesic therapy for at least 7 days and met the criteria for OIC. Participants were administered 0.2 mg/d Naldemedine orally for a minimum of 12 weeks (up to 48 weeks). The primary endpoint was the proportion of spontaneous bowel movement (SBM) responders within the first two weeks of treatment. Secondary endpoints included complete SBM (CSBM) responder rates and other efficacy endpoints, as well as safety assessments and quality of life. The results demonstrated SBM and CSBM responder rates of 66.7%(8/12) and 33.3%(4/12), respectively, within the initial two weeks. The mean frequency of SBM/CSBM increased for (3.8±2.7)/(1.3±1.9) times when compared with baseline after 2-week of treatment. Notably, 66.7%(8/12) and 33.3%(4/12) of patients experienced≥1 SBM or CSBM within 24 hours after the first dose, with median times to first SBM and CSBM being 4.0 and 16.6 hours post-administration. Mild treatment-related adverse events were reported in 16.7%(2/12) of patients. Naldemedine improved QoL. Naldemedine shows promising efficacy and manageable safety in cancer pain patients with OIC.
The patient, a 57-year-old male, was seen in Peking Union Medical College Hospital on March 8, 2024 due to "bleeding gums for 3 weeks". The patient's gums bleed, the skin was yellowed, and the skin was visible with ecchymosis. Blood routine indicated thrombocytopenia (6×109/L), severe anemia (51 g/L), more broken red blood cells can be seen in blood smear; No obvious abnormalities were observed in bone marrow puncture. The diagnosis considers the possibility of thrombotic thrombocytopenic purpura, and plasma exchange treatment is given. The results of metalloproteinase and thrombotic reactive protein type 1 repeat 13 (ADAMTS 13) were normal. Combined with the results of patient's coagulation function, prothrombin time was 17.6 s, activated partial thromboplastin time was 28.5 s, fibrinogen was 0.54 g/L, D-dimer fibrinogen equivalent unit (FEU) was 90.09 mg/L, and fibrin (ogen) degradation product was 227.4 μ g/ml, which considered the possibility of diffuse intravascular coagulation; However, no obvious abnormalities were found in immune, infection and enhanced CT examinations. Bone scan suggests extensive bone malignant lesions. The metastatic tumor cells were finally found after multiple bone marrow punctures. Comprehensive examinations, considering the possibility of the source of the digestive tract of the tumor. After gastroscopy, a small ulcer of 0.6 cm was found in the stomach body, and the pathology confirmed that it was gastric signet ring cell carcinoma. Final diagnosis considered gastric signet ring cell carcinoma with bone marrow metastasis. Follow-up until 21 Apr 2024, the patient died due to secondary septic shock.
The patient, a 53-year-old female, was admitted to Wuhan No.1 Hospital on June 1, 2024 due to "recurrent vertigo for more than 1 year and recurrent vertigo for 2 days". After admission, dynamic TCD and CTA indicated that the right vertebral artery was compressed when the patient turned left to the neck. The patient was finally diagnosed with Hunter's Arch Syndrome. After anti-platelet aggregation, lipid-lowering and plaque stabilization, circulation improvement and symptomatic supportive treatment, the symptoms improved and the patient was discharged. Hunter's bow syndrome is relatively rare, and its symptoms lack specificity. Clinicians should improve their understanding of this rare disease and reduce clinical misdiagnosis.
Invasive mycosis is a common fatal infection in children with hematological diseases, but there are limited antifungal drugs available for children; Because the metabolism of drugs in children is different from that in adults, the safety profile is also different. In recent years, the incidence of invasive fungal diseases has gradually increased, the pathogenic strains have changed, and the drug resistance of some strains has become increasingly prominent, which increases the difficulty of antifungal treatment. This article reviews the progress of antifungal therapy in children with hematological diseases, focusing on the efficacy and safety of polyene, echinocandin and azole drugs in empirical therapy, diagnosis-driven therapy and targeted therapy, so as to provide reference for clinical decision-making of Chinese physicians.
Numerous studies have confirmed that adipogenic fibrous progenitor cells are closely related to fat infiltration in rotator cuff tears. In the early stage of rotator cuff injury, adipoblast fibrous progenitor cells and myosatellite cells participate in muscle repair. With the extension of repair time, a large number of adipogenic fibrous progenitor cells accumulated in muscle tissue will differentiate into adipocytes. In this process, a variety of cellular signaling pathways are involved in the regulation, which affects the expression of adipogenic-related transcription factors, thus promoting the differentiation of adipogenic fibrous progenitor cells into adipocytes. This paper summarizes the mechanism of fatty infiltration after rotator cuff injury and the latest research progress in current treatment, aiming to improve clinicians' understanding of fatty infiltration after rotator cuff injury and help to develop cell-targeted therapy for disease.
A 59-year-old female went to the Sports Medicine Department of the Second Affiliated Hospital of Xi' an Jiaotong University because of "prolapse of the lateral left patella for more than 50 years and aggravation of pain for 1 week". More than 50 years ago, the patient had left patella prolapsed laterally due to trauma, accompanied by severe pain in the affected knee and limited flexion and extension movements. After conservative treatment, the symptoms were relieved without attention, and the pain repeated, and the left patella continued to dislocate. 1 week ago, pain was aggravated after exercise, accompanied by walking disorders, and was unable to walk independently, which was not relieved by oral non-steroidal anti-inflammatory drugs. Physical examination showed: left femoral internal rotation deformity, left knee patella extremely external movement, unable to be manually reduced; Circumpatellar tenderness positive; Knee flexion and extension 0-20°; Severe atrophy of medial femoral muscle, quadriceps muscle strength grade 3; The patellar grinding test was positive and the patellar extrapolation test was positive (more than 4/4) (Panel A). X-ray examination of the left knee showed that the patella was invisible on the lateral radiograph, and the lateral dislocation of the patella on the axial radiograph; CT examination of the left knee showed degenerative lesions of the knee joint with osteophyte formation and lateral dislocation of the patella (Figures B and C). Fixed patellar dislocation, osteoarthritis of the knee was diagnosed. Total knee arthroplasty combined with quadriceps myoplasty for repair of patellar dislocation was performed after admission. Postoperative functional exercise was performed by wearing chuck braces. After half-year reexamination, the patient self-complained that he had recovered well, the muscle strength of his left lower limb improved compared with before, the walking function had recovered, and he was able to complete most daily activities. Fixed patellar dislocation is a rare lesion of the knee joint in which the patella is detached from its normal anatomical position for a long time and is fixed in an abnormal position that cannot be reduced by active or passive means. Such dislocations usually develop gradually during developmental stages or due to specific etiologies, rather than due to acute trauma. It is often accompanied by deformities such as femoral internal rotation, tibial external rotation or knee varus/valgus, and is more common in patients with developmental abnormalities or congenital diseases (such as joint laxity and congenital deformities). Due to the long duration of the disease, patients usually have severe decrease in lower extremity muscle strength.
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