National Medical Journal of China
Volume 105 · Issue 35 · 2025
Natl Med J China
Severe knee joint diseases, such as advanced knee osteoarthritis, often require total knee arthroplasty (TKA) for treatment. However, knee osteoarthritis typically affects only one or two compartments of the knee joint, and TKA inevitably involves the resection and reconstruction of healthy joint compartments. Partial knee arthroplasty (PKA) was developed as a targeted alternative, and after decades of advancement, it has become increasingly refined, demonstrating unique advantages in treating unicompartmental and/or bicompartmental knee joint diseases. This paper focuses on the development and current status of PKA, including unicondylar knee arthroplasty, patellofemoral arthroplasty, and bicompartmental knee arthroplasty. It summarizes patient selection criteria, clinical outcomes, and proposes future directions for further advancements.
Chronic inflammatory infiltration in osteoarthritis (OA) suggests the pivotal contribution of immune cells to disease pathogenesis. This review examines the contributions of both innate immune cells (neutrophils, macrophages, mast cells, natural killer cells, dendritic cells, eosinophils and basophils) and adaptive immune cells (T lymphocytes and B lymphocytes) in OA pathogenesis. This article focuses on the activation and differentiation mechanisms of these immune cells, elucidating their roles in driving synovial inflammation, cartilage degradation, subchondral bone remodeling and osteophyte formation. Furthermore, we discuss the limitations of current research and propose potential avenues for future investigations.
In recent years, with the discovery of epidermal growth factor receptor (EGFR) gene and the successful development of tyrosine kinase inhibitors (TKI), the treatment efficacy for non-small cell lung cancer (NSCLC) patients with EGFR gene sensitive mutation has been greatly improved. With the increasing variety of EGFR-TKI approved for marketing subsequently, it brings confusion to clinicians when choosing specific medications, and there is an urgent need to develop relevant treatment guidelines. Hence, based on the "China clinical practice guideline for epidermal growth factor receptor tyrosine kinase inhibitors in stage Ⅳ non-small cell lung cancer (version 2023)", the Medical Oncology Branch of China International Exchange Promotive Association for Medical and Health Care and the Chinese Association for Clinical Oncologists organized experts to integrate the research results of various EGFR-TKI, and proposed the " Chinese expert consensus on epidermal growth factor receptor tyrosine kinase inhibitors for the treatment of non-small cell lung cancer (2025 edition)", the recommendations have been updated and enriched based on the latest clinical evidence to provide reference for better clinical practice.
To analyze the nutritional status of male children with Duchenne muscular dystrophy (DMD).
The male children aged 5-16 years old who were diagnosed with DMD at West China Second Hospital of Sichuan University from August 2023 to August 2024 were retrospectively included (DMD group). The healthy male children of the same age in the same period were classified as the control group. According to age, the two groups were divided into four age groups: 5-7, 7-9, 9-13, and 13-16 years old. General information and body composition analysis data [such as skeletal muscle mass (SMM), body fat, body fat percentage, visceral fat area (VFA), etc.] were collected, and the age-specific height Z-score (HAZ) and age-specific body mass index Z-score (BAZ) of the study subjects were calculated to detect body composition; The differences in general information, Z-score, and body composition analysis indicators were compared between two groups, and the Z-score results, correlation between body composition indicators and age, and differences in body composition indicators between different age groups were also compared between the two groups.
A total of 173 children were included, with 92 in the DMD group, aged (9.2±2.5) years and 81 in the control group, aged (9.5±2.6) years. The height [M(Q1, Q3)] [124 (113, 131) vs 133 (124, 145) cm], weight [28 (22, 33) vs 31 (24, 40) kg], and HAZ [-1.75 (-2.55, -1.10) vs -0.50 (-0.86, 0.08)] of the DMD group were lower than those of the control group, while the body mass index (BMI) [18 (16, 20) vs 17 (15, 19) kg/m2] and BAZ [1.12 (0.33, 1.65) vs 0.21 (-0.73, 0.95)] were higher than those of the control group (all P<0.05); The incidence of growth retardation [42.4% (39/92) vs 1.2% (1/81)], overweight [35.9% (33/92) vs 21.0% (17/81)], obesity [16.3% (15/92) vs 3.7% (3/81)], and malnutrition [75.0% (69/92) vs 30.9% (25/81)] were all higher than those in the control group (all P<0.05). There was statistically significant difference in the incidence of growth retardation among different age groups in the DMD group (both P=0.021). The SMM [9 (8, 10) vs 13 (10, 16) kg] of DMD patients was lower than that of the control group, while body fat [8 (5, 13) vs 4 (3, 7) kg], body fat percentage [29% (23%, 37%) vs 15% (11%, 21%)], and VFA [42 (28, 81) vs 19 (13, 26) cm2] were all higher than those of the control group (all P<0.001). The age of DMD group showed a strong positive correlation with VFA (r=0.70), and a moderate positive correlation with body fat (r=0.68), SMM (r=0.68), and body fat percentage (r=0.55) (all P<0.001); The age of the control group showed a strong positive correlation with SMM (r=0.89), a weak positive correlation with body fat (r=0.37) and VFA (r=0.24) (both P<0.05), and no correlation with body fat percentage (P=0.279). The SMM of all age groups in the DMD group was lower than that of the control group, while body fat, body fat percentage, and VFA were higher than those of the control group (all P<0.05).
DMD patients are accompanied with growth retardation and overweight (obesity); Its body composition has low SMM, high body fat, body fat percentage, and VFA; The incidence of growth retardation varies among different age groups.
To evaluate the efficacy of Telitacicept combined with low-dose mycophenolate mofetil (MMF, 1 g/day) in patients with moderate-to-severe systemic lupus erythematosus (SLE).
In this prospective, open-label, randomized controlled trial, 84 patients with active SLE [Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K)≥10] were enrolled at Shanxi Provincial People′s Hospital from June 2023 to June 2024. The participants were randomized to 2 groups with block randomization sequence: Telitacicept group (the patients were given subcutaneous Telitacicept 160 mg weekly+MMF 1 g/day+prednisone) and the MMF group (the patients were treated with MMF 2 g/day+prednisone). The primary endpoint was non-inferiority in SLEDAI-2K reduction at week 24 (margin Δ=2.0). The secondary endpoints included British Isles Lupus Assessment Group 2004 (BILAG-2004), Physician′s Global Assessment (PGA), complement levels, glucocorticoid-tapering success rate (prednisone≤7.5 mg/d), and adverse events.
A total of 84 patients with moderate-to-severe SLE were enrolled, including 75 females (89.29%), with a mean age of (39.39±10.68) years. There were 43 cases in the Telitacicept group and 41 cases in the MMF group. The Telitacicept group demonstrated non-inferior SLEDAI-2K reduction [(14.77±5.28) vs (17.32±5.99) points, 95%CI of between-group difference:-1.92 to 0.43]. Compared to the MMF group, the Telitacicept group showed a significantly higher achievement rate of prednisone reduction to≤7.5 mg/d [83.72% (36/43) vs 63.41% (26/41), P=0.034], a lower incidence of infections [23.26% (10/43) vs 68.29% (28/41), P<0.001], and a lower anti-dsDNA level [(64.87±44.11) vs (111.92±34.08) U/ml, P=0.001]. In the lupus nephritis subgroup, the 12-week urinary protein remission rate (<0.5 g/24 h) was 90.48% (19/21) in the Telitacicept group, it was higher than that in the MMF group [73.91% (17/23)](P=0.042). The Telitacicept group showed a greater improvement in complement C3 level [(1.03±0.35) vs (0.89±0.29) g/L, P=0.063]. No intergroup differences in BILAG-2004, PGA, or joint symptoms improvement was found between the two groups (all P>0.05).
Telitacicept plus low-dose MMF shows comparable efficacy to high-dose MMF for moderate-to-severe SLE, with superior glucocorticoid sparing and reduced infection risk.
To analyze the risk factors and construct a predictive model for Roux-en-Y stasis syndrome (RSS) after distal gastrectomy for gastric cancer.
A retrospective analysis was conducted on the clinical data of 351 patients who underwent distal gastrectomy for gastric cancer at Suzhou Ninth People Hospital, Affiliated to Soochow University, from January 2012 to December 2023, including 194 males and 157 females, with the age of (60.8±7.9) years. According to the occurrence of RSS, patients were divided into the RSS group (n=36) and the non-RSS group (n=315). Multivariate logistic regression analysis was used to identify risk factors for RSS, and a nomogram prediction model was constructed. The predictive ability, accuracy, and clinical applicability of the model were evaluated using the area under the receiver operating characteristic curve (AUC), calibration curve, and decision curve analysis (DCA).
Patients in the RSS group had higher age, body mass index, proportion with a history of smoking, proportion with diabetes, proportion receiving neoadjuvant chemotherapy, and proportion with delayed postoperative ambulation (>48 h) compared to those in the non-RSS group (all P<0.05). In contrast, patients in the RSS group exhibited lower albumin levels, proportion of tumors located in the gastric body, proportion undergoing laparoscopic surgery, proportion of linear stapler usage, and proportion undergoing duodenal fixation compared to the non-RSS group (all P<0.05). Multivariate logistic regression analysis showed that increased age (OR=1.080, 95%CI: 1.011-1.155), elevated body mass index (OR=1.227, 95%CI: 1.033-1.457), and delayed postoperative ambulation time (>48-72 h: OR=3.042, 95%CI: 1.058-8.747;>72 h: OR=4.152, 95%CI: 1.341-12.852) were risk factors for RSS. In contrast, increased albumin levels (OR=0.821, 95%CI: 0.687-0.981), tumors located in the gastric body (OR=0.237, 95%CI: 0.072-0.788), laparoscopic surgery (OR=0.293, 95%CI: 0.106-0.808), the use of linear staplers (OR=0.224, 95%CI: 0.090-0.557), and duodenal fixation (OR=0.154, 95%CI: 0.033-0.726) were protective factors for RSS. A nomogram prediction model for RSS after distal gastrectomy was constructed based on these parameters. The model achieved an AUC of 0.883 (95%CI: 0.840-0.927), with a sensitivity of 97.2% and specificity of 70.5%. The calibration curve showed good agreement between predicted and observed values, and the Hosmer-Lemeshow goodness-of-fit test indicated good model fit (P=0.425). DCA demonstrated satisfactory clinical net benefit for the model.
Advanced age, elevated body mass index, and delayed postoperative ambulation (>48 h) are risk factors for RSS. Higher albumin level, tumor located in the gastric body, laparoscopic surgery, use of linear stapler, and duodenal stump fixation are protective factors for RSS. The nomogram of the predictive model that incorporates the aforementioned factors demonstrates good predictive capability.
Pediatric patients with arterial ischemic stroke admitted to Beijing Children's Hospital from September 2015 to September 2024 were retrospectively included. According to the COIST classification criteria, 50 cases were attributed to basal ganglia infarction following minor trauma with basal ganglia calcification. The clinical characteristics, including the nature of the trauma, clinical manifestations, imaging findings, and laboratory tests, were analyzed. The modified Rankin Scale (mRS) was used to evaluate the prognosis. Among the 50 cases, 29 were male (58%), and 21 were females (42%), with a median age of 1.2 (0.9, 2.4) years [M (Q1, Q3)]; 84% (42/50) were ≤ 3 years at onset. A clear history of minor trauma was documented in 46 cases (92%), most commonly falls from beds/sofas or tripping; 24 cases developed stroke symptoms within 10 min after trauma, and 13 cases developed symptoms within 1-3 hours. The most common symptoms were hemiparesis, facial palsy , and transient seizures, with incidence rates of 96% (48/50), 72% (36/50), and 30% (15/50), respectively. Bilateral infarcts occurred in 5 cases (10%), unilateral in 45 (90%). All patients had punctate or linear basal ganglia calcification on CT, with 86% (43/50) showing bilateral calcifications; MRI showed basal ganglia infarction in all cases, with periventricular or corona radiata involvement in 38%(19/50) and thalamic involvement in 16%(8/50). Elevated aspartate aminotransferase(AST) was observed in 20 patients (40%). At discharge, mRS score showed that 50% (25/50) had a favorable prognosis; after a mean follow-up of (4.6±2.5)years, 97.8%(45/46) had a good prognosis. Basal ganglia infarction following minor trauma with basal ganglia calcification predominantly occurs in children under 3 years old. The onset occurs after minor trauma, typically presenting with hemiplegia, facial paralysis, and seizures. Head CT scans reveal calcifications in the basal ganglia, and infarcts may involve the basal ganglia, periventricular and corona radiata, and thalamus, with a minority showing bilateral infarcts. The long-term prognosis is favorable.
This study reports on a family with familial hyperaldosteronism type Ⅳ caused by a mutation in the CACNA1H gene. The proband (male, 39 years) presented to the Inner Mongolia Medical University Affiliated Hospital on March 8, 2024, with a 25-year history of episodic weakness and a 5-year history of elevated blood pressure, complicated with hypertension, hypokalemia, elevated urinary potassium excretion, and increased aldosterone-to-renin concentration ratio (ARR), along with a captopril suppression rate of -23.6%. Imaging revealed left adrenal hyperplasia. Genetic sequencing revealed: a heterozygous mutation c.5324-19G>A was identified in the IVS31/IC30 region of the CACNA1H gene. Family screening revealed that 4 family members—his mother, older brother, younger brother, and nephew—carried the variant. Among them, 3 individuals (excluding the nephew) presented with hypertension and elevated ARR, leading to a confirmed diagnosis of familial hyperaldosteronism type Ⅳ. Among 4 cases, including the proband, 3 cases complicated hypokalemia, 3 showed adrenal hyperplasia, and 2 had early-onset cerebrovascular events. Genetic analysis confirmed this intronic variant causes RNA splicing abnormalities. Compared to previously reported pedigrees with exonic missense mutations, this family demonstrated a significantly higher incidence of cerebrovascular complications (50%). Spironolactone treatment effectively normalized blood pressure and serum potassium levels. These findings highlight the necessity of combining ARR assessment, captopril testing, and CACNA1H genetic analysis for familial hyperaldosteronism diagnosis in patients with early-onset hypertension, hypokalemia, and family history of cerebrovascular disease.
A retrospective analysis was conducted on the European Collaboration Against Cancer-Real-time Fluorescence Quantitative polymerase chain reaction (EAC-qPCR) test results of 39 patients diagnosed with PML::RARA-V variant positive acute promyelocytic leukemia (APL) at Hebei Yandalu Daopei Hospital from April 2012 to September 2024. Gene sequence determination was also performed to analyze the sequence characteristics of the PML::RARA-V variant transcript. Based on the sequencing results, new detection primers for the PML::RARA-V variant were designed. A total of 39 patients with the PML::RARA-V variant were included, including 16 males and 23 females, aged 10 to 73 years. Nine cases (23.1%) could not be accurately detected by the EAC-qPCR protocol, among which 4 cases were misclassified and had abnormally low quantitative values, and 5 cases were false negatives; the remaining 30 cases could be accurately detected. Among the 39 patients, 20 completed gene sequence determination. The results showed that 7 cases had no intron sequence insertion, and 13 cases had insertion of the second intron sequence of the RARA gene. The PML gene breaks in 20 patients occurred in exon 6 (with different specific break sites), and the RARA gene of the fusion transcript started from exon 3, and all were in-frame fusions. The new detection primers VNF1 and VNF2 replace the upstream primer for the V variant in the EAC-qPCR protocol and can effectively identify all V variant transcripts. The sequence of the PML::RARA-V variant transcript is highly variable, leading to approximately 23.1% of V variant cases being missed or misidentified by the EAC-qPCR protocol. The new primers can improve the detection accuracy of V variant transcripts.
A 4-year-old and 7-month-old male was seen in Beijing Children's Hospital on October 5, 2024 due to "intermittent vomiting, increased sleep and convulsive attacks for more than 2 months". The main clinical manifestations were vomiting, increased sleep and convulsions. Previous medical history suggests repeated pneumonia. Physical examination showed that the child's reaction and response were slightly slower, and there were no obvious positive signs. MRI of the head showed multiple intracranial lesions with hemorrhage and enhancement; Cerebrospinal fluid examination showed an increase in cell count and a significant increase in protein. After immunotherapy, symptoms improved, but radiographic progression. The genetic test results showed that Xq25 had a 2.49 Mb copy number deletion, and the deleted fragment contained SH2D1A gene, which was finally diagnosed as X-linked lymphoproliferative syndrome type 1 (XLP1). The main treatment for XLP1 is hematopoietic stem cell transplantation, and supportive treatments include immunotherapy and anti-infective treatment. The child's family members refused treatment and were discharged. After 1 month of follow-up, the child died.
The patient was a 39-year-old female with karyotype 46 and XY. She was seen in Peking Union Medical College Hospital on August 2, 2023 due to "primary amenorrhea with abdominal swelling for more than 5 months". Imaging examination revealed a huge cystic mass in the pelvic cavity with irregular cystic wall nodules. Laparoscopic bilateral gonadectomy was performed, and the postoperative pathology showed that the left gonad was serous borderline tumor, and the right gonad was dysplastic testicular tissue with sex cord stromal cell hyperplasia. Complete androgen insensitivity syndrome with serous borderline tumor of the testis was diagnosed. The postoperative recovery was good, and estrogen replacement therapy was given. No recurrence was seen after 14 months of follow-up. Serous borderline tumors of the testis are extremely rare in patients with complete androgen insensitivity syndrome. Early gonadectomy should be performed, and the prognosis of patients with complete lesion resection is good.
A 16-year-old and 11-month-old child was seen in Guangdong Provincial People's Hospital affiliated to Southern Medical University on August 24, 2021 due to "repeated epigastric pain for half a year, recurrent aggravation with fatigue for 1 month". The child was emaciated, the skin and sclera were yellowed, the whole abdomen was obviously tender, the right subcostal liver exceeded the umbilical level, accompanied by tenderness, and the muscle strength of the limbs was weakened. Serum alanine aminotransferase (ALT), aspartate aminotransferase (AST) and creatine kinase were significantly increased, with hypoglycemia and blood lactate increased; Abdominal CT showed hepatomegaly and severe fatty liver; EMG suggested myogenic injury; Blood gas-phase tandem mass spectrometry (GC-MS) indicated elevation of several acyl carnitines; Whole exome sequencing revealed a homozygous mutation in the electron transporter flavin protein dehydrogenase (ETFDH) gene. Delayed-onset multiple acyl-CoA dehydrogenase deficiency (MADD) was confirmed. After high-dose vitamin B2, L-carnitine and coenzyme Q10 treatment, the symptoms of abdominal pain and muscle weakness in children were significantly improved, and all biochemical indexes returned to normal. Follow-up until August 20, 2024 (a total of 3 years), the child still regularly took a large dose of vitamin B2, no further discomfort, good growth and development, and able to live and study normally.
A 29-year-old female was admitted to Suzhou Hospital affiliated to Nanjing Medical University due to "neck pain for 2 days with right limb weakness for 1 day". Digital subtraction angiography (DSA) of total cerebral vasculature confirmed that right vertebral artery dissection combined with anterior spinal artery, radicular artery and bilateral ascending carotid artery dysplasia caused sulcus artery embolism and persistent hypoperfusion, and finally sulcus artery-watershed area infarction. After administration of argatroban anticoagulation combined with aspirin antiplatelet therapy, the symptoms improved and the hospital was discharged. It suggests that diffusion weighted spinal cord imaging (DWI) combined with DSA is necessary for this type of patients, and at the same time strengthen the etiological screening of unexplained spinal cord infarction in young women.
Insomnia disorder and chronic pain are common clinical diseases, and they often exist and affect each other. Combined with the epidemiological status and the relationship between insomnia and chronic pain, this paper clarifies that insomnia has a more significant influence on chronic pain; Focus on analyzing the neurobiological mechanism of chronic pain caused by insomnia, including hypothalamus-pituitary-adrenal axis, inflammation and immune system, monoamine neurotransmitters, adenosine, opioidergic system, melatonin and neural circuit abnormalities. Through the discussion of the mechanism, it provides a new direction and target for the treatment of insomnia disorder and chronic pain comorbidity.
Infantile hypercalcemia type 1 (HCINF1) is a rare autosomal recessive metabolic disease caused by mutations in the CYP24A1 gene, characterized by hypercalcemia, hypercalciuria, and nephrocalcinosis. The 24-hydroxylase encoded by CYP24A1 is active vitamin D [1,25- (OH)2D3] key enzymes of metabolism. Mutations in the CYP24A1 gene can lead to a decrease or loss of 24-hydroxylase activity, trigger disorders in the degradation of active vitamin D, and lead to abnormally elevated blood calcium levels, thus exhibiting a series of clinical symptoms, such as growth retardation, vomiting, nervous system abnormalities, and nephrocalcinosis. In recent years, with the advancement of gene detection technology, the identification of CYP24A1 gene mutations has become more accurate. Studies have found that different types of gene mutations can impair the function of 24-hydroxylase through different mechanisms. Epigenetic regulation also plays an important role in the expression of CYP24A1 gene, and abnormal DNA methylation and histone modification may further exacerbate the phenotypic differences of disease. Animal model studies have confirmed that the deletion of CYP24A1 gene directly leads to the occurrence of hypercalcemia, which provides an important basis for exploring the molecular mechanism and potential therapeutic strategies of HCINF1. This review systematically combs the molecular mechanism, gene mutation types and functional impairment of HCINF1, and explores the regulatory mechanism behind phenotypic heterogeneity in combination with the latest research progress. By summarizing the current research results and clinical practice experience, the challenges and future directions in diagnosis and treatment are pointed out, aiming at providing new ideas for the development of precision medicine for this disease.
Inflammatory bowel disease (IBD) is a non-specific chronic intestinal inflammatory disease. The pathogenesis is still unclear. Impaired intestinal barrier function and intestinal immune dysregulation play an important role in the development of IBD. The existing clinical treatment of IBD still faces risks such as treatment failure and adverse drug reactions, while mesenchymal stem cells and their exosomes, as emerging treatment strategies, have excellent immunomodulatory potential and maintain intestinal immune homeostasis through different mechanisms of action. This paper reviews the immunoregulatory mechanisms of mesenchymal stem cells in the treatment of IBD through regulatory T cells, mononuclear/phagocytic system and intestinal barrier repair. At the same time, it introduces the therapeutic effect of mi-RNA carried by exosomes, summarizes the current clinical application dilemmas and challenges, and emphasizes the broad clinical application prospects of mesenchymal stem cells in the treatment of IBD.
The patient, a 70-year-old female, was admitted to the emergency department of Peking Union Medical College Hospital on October 21, 2024 due to "perianal pain, fever, and blood in the stool for 1 month". One month ago, the patient had a large amount of dry and bulbous stool after using Kaiselu due to constipation, which lasted for 1 h, accompanied by severe perianal pain, and then gradually developed fever and blood in the stool, and the hemoglobin dropped from 106 g/L to 62 g/L. After fasting water and anti-infective treatment, the symptoms were slightly relieved. Previous hypertension for more than 20 years, type 2 diabetes for 5 years, poor blood pressure and blood sugar control, secondary peripheral atherosclerosis, chronic kidney disease (CKD stage 4); Five years ago, deep vein thrombosis of the left lower limb occurred after long-term braking due to work reasons, and interventional thrombectomy was performed. No history of atrial fibrillation.
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