Chinese Medical Journal[JOURNAL]
Sun
200 papers
[Diagnosis and treatment for congenital ossicular chain malformations: current status, challenges, and future prospects].
Gao Z, Chi FL
Zhonghua Yi Xue Za Zhi · 2026 Jun · PMID 42209169 · Publisher ↗
Congenital ossicular chain malformation constitutes a pivotal etiological factor in conductive hearing loss. Despite its relatively low clinical incidence, the diagnosis and management of this condition persist as a form...
Congenital ossicular chain malformation constitutes a pivotal etiological factor in conductive hearing loss. Despite its relatively low clinical incidence, the diagnosis and management of this condition persist as a formidable challenge in contemporary otological practice. In recent years, the expeditious evolution of high-resolution imaging modalities, minimally invasive endoscopic surgical techniques, innovative artificial ossicular prostheses, advanced hearing implant systems, and artificial intelligence (AI)-assisted clinical decision-making frameworks has precipitated a paradigm shift in diagnostic and therapeutic paradigms. This article systematically elaborates on the diagnostic strategies, therapeutic modalities, and future research directions pertaining to congenital ossicular chain malformation, with the overarching goal of advancing the precision and individualization of clinical care for affected populations.
[Clinical practice guideline for renal replacement therapy in critically ill patients with acute kidney injury (2026 edition)].
Chinese Society of Critical Care Medicine, Chinese Medical Association
Zhonghua Yi Xue Za Zhi · 2026 May · PMID 42203644 · Publisher ↗
Acute kidney injury (AKI) is a common and severe complication in critically ill patients, associated with high morbidity and mortality. Renal replacement therapy (RRT) is a vital life-support modality for critically ill...
Acute kidney injury (AKI) is a common and severe complication in critically ill patients, associated with high morbidity and mortality. Renal replacement therapy (RRT) is a vital life-support modality for critically ill patients with AKI. However, there remains a lack of unified clinical standards for core issues including the timing of RRT initiation, treatment modality, anticoagulation strategy, and weaning from RRT.In response, the Chinese Society of Critical Care Medicine organized a multidisciplinary expert panel to develop the"Clinical practice guideline for renal replacement therapy in critically ill patients with acute kidney injury (2026 edition)"in accordance with the Grading of Recommendations Assessment, Development and Evaluation(GRADE) approach for grading evidence quality. This guideline was developed through systematic literature retrieval, meta-analysis, and evidence-based medical evidence synthesis, followed by multiple rounds of manuscript review and revision via online and offline meetings of the working group, and final approval by the Standing Committee of the Society. A total of 34 recommendations were finalized, covering key clinical topics including timing of RRT initiation, establishment and maintenance of vascular access, selection of treatment modalities, application of specialized membrane filters, anticoagulation regimens, replacement fluid formulations, prescribed treatment dose, and RRT weaning strategies. This guideline aims to provide scientific, standardized, and clinically actionable guidance for critical care practitioners in China, promoting standardized RRT management in adult critically ill patients with AKI.
XBP1-mediated mitochondrial damage activates the mtDNA/STING/NLRP3 pathway to delay diabetic wound healing.
Yi M, Yan W, Tu L … +7 more , Ni T, Zhang Q, Li C, Wang Y, Ruan S, Zhou Z, Gao W
Chin Med J (Engl) · 2026 May · PMID 42192237 · Publisher ↗
BACKGROUND: Diabetic wounds (DBW) are characterized by high levels of reactive oxygen species (ROS) and pro-inflammatory factors; reducing inflammation is therefore a key strategy in the treatment of chronic diabetic wou...
BACKGROUND: Diabetic wounds (DBW) are characterized by high levels of reactive oxygen species (ROS) and pro-inflammatory factors; reducing inflammation is therefore a key strategy in the treatment of chronic diabetic wounds. X-box binding protein-1 (XBP1), a crucial transcription factor activated during endoplasmic reticulum stress, has been found to mediate mitochondrial damage, thereby activating the mitochondrial deoxyribonucleic acid/cyclic GMP-AMP synthase/stimulator of interferon genes (mtDNA/cGAS/STING) pathway and inducing Kupffer cell M1 polarization, which leads to excessive secretion of inflammatory cytokine. However, its role in regulating DBW healing remains unclear. Therefore, this study aims to explore the underlying mechanism of XBP1 in diabetic wound healing. METHODS: Human skin samples were collected from diabetic and non-diabetic patients at the First Affiliated Hospital with Nanjing Medical University between January 2021 and December 2023 to evaluate XBP1 expression. A wound model was constructed using macrophage-specific knockout and wild-type diabetic mice. Wound healing rate, inflammatory cytokine levels, macrophage polarization, mitochondrial integrity, and activation of the mtDNA/cGAS/STING/NOD-, LRR- and pyrin domain-containing protein 3 (NLRP3) pathway were assessed. Statistical analyses were performed using GraphPad Prism 10.0 software (GraphPad, La Jolla, USA), and a P value <0.05 was considered statistically significant difference. RESULTS: We found that XBP1 was highly expressed in macrophages within DBW(P <0.0001). Specific deletion of XBP1 in macrophages significantly reduced inflammatory cytokine secretion, increased M2 macrophage polarization, and accelerated wound healing. Further investigation revealed that knocking out Xbp1 in macrophages restored mitochondrial integrity, promoted ROS and mtDNA clearance, and inhibited the cGAS/STING/NLRP3 inflammatory pathway. Additionally, treatment with the XBP1 inhibitor toyocamycin markedly accelerated DBW healing. CONCLUSIONS: In summary, under hyperglycemic stress, XBP1-induced mitochondrial damage and activation of the mtDNA/cGAS/STING/NLRP3 pathway are a key mechanism underlying DBW healing impairment. Thus, XBP1 may serve as a promising therapeutic target for DBW treatment.
Effect of cytoreductive chemotherapy on the incidence of differentiation syndrome in patients with newly diagnosed acute promyelocytic leukemia.
Lou H, Xu H, Zhang H … +11 more , Xia J, Qi Y, Ma Y, Zhang H, Li H, Liu Q, Qi K, Cheng H, Cao J, Li Z, Yan Z
Chin Med J (Engl) · 2026 May · PMID 42192232 · Publisher ↗
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Comparable survival outcomes for secondary and de novo acute myeloid leukemia after haploidentical hematopoietic stem cell transplantation.
Zhang K, Chang Y, Sun Y … +8 more , Mo X, Chen Z, Lv M, Cheng Y, Xu L, Zhang X, Huang X, Wang Y
Chin Med J (Engl) · 2026 May · PMID 42192231 · Publisher ↗
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Amivantamab plus chemotherapy vs. chemotherapy as first-line treatment in Chinese mainland patients with EGFR exon 20 insertion non-small cell lung cancer: Subgroup analysis of the randomized PAPILLON trial.
Tang K, Wu F, Yang F … +18 more , Yao Y, Zhao Y, Zhou J, Sun P, Wang D, Lv D, Wang H, Hu Y, Li Q, Song Y, Gao G, Pan F, Bhattacharya A, Baig M, Lorenzini PA, Wortman-Vayn H, Agrawal T, Zhou C
Chin Med J (Engl) · 2026 May · PMID 42192224 · Publisher ↗
BACKGROUND: First-line amivantamab plus carboplatin-pemetrexed demonstrated efficacy and an acceptable safety profile in the PAPILLON trial (NCT04538664) in patients with advanced non-small cell lung cancer with epiderma...
BACKGROUND: First-line amivantamab plus carboplatin-pemetrexed demonstrated efficacy and an acceptable safety profile in the PAPILLON trial (NCT04538664) in patients with advanced non-small cell lung cancer with epidermal growth factor receptor (EGFR) exon 20 insertions; we report the efficacy and safety results of the Chinese mainland subgroup population from the PAPILLON study. METHODS: PAPILLON was a randomized, open-label, multicenter, phase 3 study comparing amivantamab plus carboplatin-pemetrexed therapy with standard of care carboplatin-pemetrexed, in patients with treatment-naïve, locally advanced, or metastatic non-small-cell lung cancer characterized by EGFR exon 20 insertion mutations. Between March 2021 and October 2022, 87 treatment-naïve patients were randomized in China (amivantamab plus carboplatin-pemetrexed, 39; carboplatin-pemetrexed, 48). The primary endpoint was progression-free survival as assessed by blinded independent central review according to Response Evaluation Criteria in Solid Tumors v1.1. Comparison between treatment groups was conducted using a stratified log-rank test, with hazard ratios estimated from a stratified Cox proportional hazards model. RESULTS: Progression-free survival was longer in the amivantamab plus carboplatin-pemetrexed group than in the carboplatin-pemetrexed group (median, 12.3 months, 95% confidence interval [CI], 7.0 months to not evaluable vs. 6.7 months, 95% CI, 4.2-8.6 months; hazard ratio, 0.47; 95% CI, 0.26-0.85; nominal P = 0.0109). The 18-month progression-free survival rate was 33% with amivantamab plus carboplatin-pemetrexed and 12% with carboplatin-pemetrexed. The objective response rate was 71.8% (95% CI, 55.1-85.0%) with amivantamab plus carboplatin-pemetrexed and 48.9% (34.1-63.9%) with carboplatin-pemetrexed (odds ratio, 2.46; 95% CI, 1.01-5.98; nominal P = 0.0478). Median progression-free survival after first subsequent therapy was not evaluable for amivantamab plus carboplatin-pemetrexed and 18.8 months for carboplatin-pemetrexed (hazard ratio, 0.32; 95% CI, 0.11-0.88; nominal P = 0.0212). Interim overall survival analysis suggests about 42% improved chance of survival with amivantamab plus carboplatin-pemetrexed vs. carboplatin-pemetrexed. The most common adverse events with amivantamab plus carboplatin-pemetrexed were neutropenia, anemia, leukopenia, and rash. No new safety signals were observed. No patients discontinued amivantamab due to related adverse events. CONCLUSION: Results from the PAPILLON Chinese mainland population were consistent with the overall population and support the use of amivantamab plus carboplatin-pemetrexed in first-line treatment of Chinese patients with EGFR exon 20 insertion-mutated non-small cell lung cancer. TRIAL REGISTRATION: https://clinicaltrials.gov/; registration number, NCT04538664.
A novel mucosal lymphatic vessel classification correlating with histopathology of early esophageal squamous cell carcinoma: A proposed system from China.
Zhang Y, Peng T, Ye L … +16 more , Chen L, Yuan X, Yao M, Feng Y, Zeng X, Chen O, Gao Y, Luo Q, Zhu Y, Zhang L, Liu W, Mou Y, He L, Zhou X, Deng Q, Hu B
Chin Med J (Engl) · 2026 May · PMID 42192218 · Publisher ↗
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[Clinical practice guidelines for the application of intelligent technology in spinal surgery (2026 edition)].
Spinal Trauma Group, Chinese Association of Orthopaedic Surgeons, Intelligent Orthopaedics Group, Chinese Association of Orthopaedic Surgeons, Shaanxi Medical Doctor Association Professional Committee on Orthopaedic Minimally Invasive Surgery
Zhonghua Yi Xue Za Zhi · 2026 Jun · PMID 42178936 · Publisher ↗
In response to the challenges of insufficient precision and limited safety associated with traditional techniques in the diagnosis and treatment of complex spinal diseases, intelligent technologies-represented by 3D visu...
In response to the challenges of insufficient precision and limited safety associated with traditional techniques in the diagnosis and treatment of complex spinal diseases, intelligent technologies-represented by 3D visualization, additive manufacturing (3D printing), surgical navigation and robotics, artificial intelligence, and telemedicine-are driving spine surgery into a new era of precision and personalized treatment. However, there is currently a lack of standardized protocols or guidelines for the clinical application of these intelligent technologies in spine surgery. To standardize and promote their clinical use, this guideline was developed through an initiative led by the Spinal Trauma Group of the Chinese Association of Orthopaedic Surgeons (CAOS) and the Intelligent Orthopaedics Group of CAOS, in collaboration with Shaanxi Medical Doctor Association Professional Committee on Orthopaedic Minimally Invasive Surgery. Multidisciplinary experts participated, formulating recommendations based on evidence-based medicine and multi-center Delphi expert consensus. This guideline systematically summarizes the application scope of intelligent technologies in spine surgery, covering six aspects: 3D visualization, 3D printing, surgical navigation and robotics, artificial intelligence, telemedicine, and the implementation of intelligent technologies. It finally forms 15 recommendations, clarifies the applicable scenarios, evidence levels, and recommendation strength for each technology, and aims to promote their scientific, standardized, and efficient application, provide practical suggestions for medical institutions at different levels, and ultimately enhance the overall clinical diagnosis and treatment level and clinical decision-making support capacity in spine surgery.
Targeting copper metabolic homeostasis to enable cuproptosis-based cancer therapy.
Zhang C, Dai X, Li L
Chin Med J (Engl) · 2026 May · PMID 42165518 · Publisher ↗
Cuproptosis, a recently defined form of programmed cell death, provides a new vantage point for cancer therapy. In tumor cells, copper (Cu) metabolic homeostasis is essential to satisfy heightened copper demands while pr...
Cuproptosis, a recently defined form of programmed cell death, provides a new vantage point for cancer therapy. In tumor cells, copper (Cu) metabolic homeostasis is essential to satisfy heightened copper demands while preventing its toxicity. Disruption of this equilibrium, resulting in excessive intracellular copper accumulation, is a prerequisite for initiating cuproptosis. This review systematically synthesizes current knowledge on the dual roles of copper in tumorigenesis, progression, and therapeutic exploitation. It delineates the regulatory network governing copper metabolic homeostasis in cancer cells and summarizes the molecular mechanisms of cuproptosis. Furthermore, the discussion focuses on how disruption of this homeostasis triggers cuproptosis, highlighting key molecular pathways and druggable targets. Emerging therapeutic strategies leveraging copper biology in oncology are also examined. Collectively, targeting copper metabolic homeostasis represents a compelling approach for the advancement of cuproptosis-based tumor therapies, which hold substantial clinical promise.
Tryptophan metabolism: A hidden regulator of female reproductive health beyond fertility.
Wu Q, Zeng F, Qiao J … +1 more , Qi X
Chin Med J (Engl) · 2026 Jul · PMID 42165446 · Full text
Female reproductive health encompasses fertility, safe pregnancy and childbirth, and is vital throughout the entire life of women. Tryptophan, an essential amino acid in humans, is involved in protein synthesis and the g...
Female reproductive health encompasses fertility, safe pregnancy and childbirth, and is vital throughout the entire life of women. Tryptophan, an essential amino acid in humans, is involved in protein synthesis and the generation of bioactive substances related to the health and disorders of multiple systems. An increasing number of studies have shown that tryptophan metabolism is closely related to female reproductive health. Tryptophan metabolism occurs mainly through the kynurenine, serotonin, and indole pathways and yields various bioactive substances. The homeostasis of this metabolism modulates the ovarian function by influencing follicle development and hormone secretion. The regulation of the female reproductive system by tryptophan metabolism may be related to its role in the maternal internal environment and its influence on the reproductive axis systemically. In pregnant women, tryptophan metabolism affects the entire process from embryo implantation to childbirth. Factors involved in tryptophan metabolism may represent new targets for the treatment of female reproductive system-related diseases. Here, we summarize the possible mechanisms by which tryptophan metabolites affect female reproductive health and discuss potential related treatments.
Connexin 43 promotes stemness of leukemia cells and chemoresistance in T-cell acute lymphoblastic leukemia via the RAC1/AKT/GSK3β axis.
Ji R, An H, Liu L … +10 more , Wang X, Yang G, Cheng X, Yang L, Wang M, Liu J, Li C, Dou Y, Yang S, Zhang X
Chin Med J (Engl) · 2026 May · PMID 42165443 · Publisher ↗
BACKGROUND: T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological malignancy that remains a clinical challenge because of drug resistance and relapse, necessitating deeper insights into the mechanism...
BACKGROUND: T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological malignancy that remains a clinical challenge because of drug resistance and relapse, necessitating deeper insights into the mechanism of leukemogenesis and progression. Connexin 43 (CX43) modulates tumor growth and metastasis by regulating cell-extracellular matrix interactions and the tumor microenvironment, but its role in T-ALL remains unclear. The study aims to investigate the changes in the expression of CX43 in the context of T-ALL, its effect on patient prognosis, and the underlying mechanisms. METHODS: To investigate the impact of CX43 on survival and relapse, this study retrieved databases to analyze the differential expression of CX43 between patients with T-ALL and healthy individuals, as well as its prognostic implications. Meanwhile, the CX43-overexpressing (CX43OE) and neurogenic locus notch homolog protein 1 (Notch1)-mutant plasmids were used to develop a primary T-ALL knock-in mouse model and investigate the effects of CX43 on T-ALL in vitro and in vivo. RESULTS: The overexpression of CX43 significantly promoted the development and progression of T-ALL and suppressed apoptosis by increasing the stemness of T-ALL cells through the upregulation of Rac family small GTPase 1 (RAC1) expression and the promotion of the phosphorylation of the protein kinase B (AKT)/glycogen synthase kinase 3 beta (GSK3β) pathway. Targeting the AKT/GSK3β axis attenuated the stemness induced by CX43 overexpression. CONCLUSION: These findings suggest that targeting CX43-mediated pathways may help overcome leukemia stem cell-driven relapse and improve treatment outcomes in patients with T-ALL.
Single-cell sequencing identifies characteristics of disease and bone marrow in concurrent multiple myeloma and myelodysplastic syndrome.
Wang J, Zhong Y, Sun X … +6 more , Fu Y, Xie Y, Guo J, Liu H, Huang W, Liu Z
Chin Med J (Engl) · 2026 May · PMID 42165434 · Publisher ↗
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Preoperative iron status and its association with adverse outcomes in pediatric congenital heart disease.
Shen H, He Q, Zhou S … +4 more , Li W, Liu Y, Zhou Z, Li S
Chin Med J (Engl) · 2026 Jul · PMID 42165424 · Full text
BACKGROUND: Iron imbalance, including iron deficiency and overload, is associated with increased cardiovascular morbidity and mortality. However, the iron status and its association with postoperative adverse outcomes in...
BACKGROUND: Iron imbalance, including iron deficiency and overload, is associated with increased cardiovascular morbidity and mortality. However, the iron status and its association with postoperative adverse outcomes in pediatric patients with congenital heart disease (CHD) is unclear. This study aimed to investigate the preoperative iron status and its correlation with adverse outcomes in pediatric patients with CHD. METHODS: This is a single-center retrospective study. A total of 8065 pediatric patients (aged 1 month to 5 years) who underwent surgical treatment at Fuwai Hospital's Pediatric Cardiac Surgery Center between 2017 and 2022 were consecutively included. All patients had undergone comprehensive preoperative laboratory tests, including iron-related hematology and biochemistry examinations. The association between ferritin and adverse outcomes was examined using restricted cubic splines. A multivariable logistic regression model was used to determine the associations between preoperative iron status and postoperative adverse outcomes. RESULTS: Iron deficiency, anemia, and iron deficiency anemia were observed in 23.0% (1856/8065), 12.0% (969/8065), and 7.0% (564/8065) of patients, respectively. Patients with cyanotic CHD had a higher prevalence of iron deficiency but a lower incidence of anemia compared with patients with acyanotic CHD. A right-skewed U-shaped relationship was observed between ferritin and death and composite adverse events. Multivariable logistic regression analysis demonstrated that patients with high ferritin levels (ferritin ≥100 µg/L) had a significantly higher risk of in-hospital death (odds ratio [OR]: 8.20, 95% confidence interval [CI]: 1.61-41.86]) and composite adverse events (OR: 4.21 [95%CI: 2.65-6.68]) compared with patients with iron repletion (ferritin levels of ≥15 and <33 µg/L). In addition, patients with iron deficiency (OR: 1.80 [95%CI: 1.18-2.73]) and intermediate ferritin levels (ferritin levels of ≥33 and <100 µg/L; OR: 1.64 [95%CI: 1.11-2.44]) had a higher incidence of composite adverse events compared with those with iron repletion. CONCLUSIONS: Iron deficiency and anemia are common concern in children with CHD. Preoperative iron imbalance, including both iron deficiency and high iron load, was significantly associated with postoperative adverse outcomes in pediatric patients with CHD. Assessment of preoperative iron status might facilitate early identification of high-risk patients, and correcting iron imbalance could potentially mitigate adverse outcomes.
Glucose-6-phosphate dehydrogenase deficiency in ischemic stroke: Underlying mechanisms and clinical challenges.
Zhang L, Li J, Cai Y … +3 more , Chen Y, Wei J, Zeng J
Chin Med J (Engl) · 2026 Jul · PMID 42165423 · Full text
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[Value and benefit of basic insulin/GLP-1RA weekly preparation in clinical treatment of type 2 diabetes in adults].
Zhang SC, Zang L, Cheng Y … +2 more , Mu YM, Hu X
Zhonghua Yi Xue Za Zhi · 2026 Jun · PMID 42161872 · Publisher ↗
The prevalence of type 2 diabetes mellitus has been rising continuously in China. However, glycemic control rates remain suboptimal, posing a significant public health challenge. Although traditional intensive insulin st...
The prevalence of type 2 diabetes mellitus has been rising continuously in China. However, glycemic control rates remain suboptimal, posing a significant public health challenge. Although traditional intensive insulin strategies are effective in improving glycemic control, they are often associated with risks such as hypoglycemia and weight gain. Fixed-ratio combinations of basal insulin and glucagon-like peptide-1 receptor agonist (GLP-1RA) offer complementary mechanisms of action, enhancing efficacy and safety while simplifying treatment regimens, making them a key focus of clinical development. Insulin icodec/semaglutide fixed-ratio combination (IcoSema), the first once-weekly dual-component preparation combining a basal insulin and a GLP-1RA, utilizes advanced formulation technology to achieve stable co-formulation of the ultra-long-acting once-weekly basal insulin and the once-weekly GLP-1RA, with the two components acting in a complementary and synergistic manner. The Phase 3 COMBINE clinical trial program demonstrated that, compared with insulin icodec, semaglutide(1.0 mg), or basal-bolus insulin regimens, IcoSema provides superior or equivalent glycemic control, and the risk of clinically significant or severe hypoglycemic events is comparable to that of semaglutide(1.0 mg). Once-weekly administration helps to simplify the treatment regimen and improve treatment adherence. The clinical application of IcoSema is expected to alleviate the dilemma in Chinese type 2 diabetes management of balancing effective glycemic control with safety and simplicity, offering a new therapeutic option for patients requiring insulin intensification that combines efficacy, safety, and convenience.
[Efficacy analysis of the "six-step" robot-assisted subxiphoid extended thymectomy for myasthenia gravis].
Lin JB, Zhuang RZ, Zhuo Y … +3 more , Lin NL, Yu FQ, Lai FC
Zhonghua Yi Xue Za Zhi · 2026 May · PMID 42161616 · Publisher ↗
To evaluate the clinical effect of the"six-step" robot-assisted subxiphoid extended thymectomy for myasthenia gravis. Clinical data of 45 patients with myasthenia gravis were retrospectively collected from the First Affi...
To evaluate the clinical effect of the"six-step" robot-assisted subxiphoid extended thymectomy for myasthenia gravis. Clinical data of 45 patients with myasthenia gravis were retrospectively collected from the First Affiliated Hospital of Fujian Medical University between November 2022 and June 2025, including 22 males and 23 females, with the age of (48.0±12.0) years. Robot-assisted subxiphoid extended thymectomy was performed using a "six-step" approach. Perioperative data were collected, including operative time, intraoperative blood loss, postoperative thoracic drainage time and volume, length of postoperative hospital stay, postoperative complications, pathologic findings, and follow-up outcomes. All 45 procedures were completed without conversion or incision extension. The operation time was (158±26) min, the intraoperative blood loss was 15(8, 20) ml, the thoracic drainage time was 3(2, 3) d, and the postoperative thoracic drainage volume were 180.0(17.5, 400.0) ml on postoperative day 1, 40.0(10.0, 65.0) ml on postoperative day 2, and 15.0(7.5, 35.0) ml on postoperative day 3. The length of postoperative hospital stay was 4(3, 5) d. Postoperative complications occurred in 4 patients, including 1 case of hoarseness, 1 case of myasthenic crisis, and 2 cases of pulmonary infection, all of whom improved or recovered after symptomatic treatment. Pathology showed thymic hyperplasia in 9 cases and thymoma in 36 cases,among which ectopic thymus tissue was identified in 19 cases. Follow-up was conducted up to October 31, 2025, with a follow-up duration of 24.0(14.0, 29.0) months. No recurrence of complications, tumor recurrence or metastasis, or death was observed during follow-up."six-step" robot-assisted subxiphoid extended thymectomy is safe and feasible with favorable short-term outcomes and offers a standardized, generalizable approach for myasthenia gravis surgery.
[Efficacy and safety of eliglustat tartrate in adults with Gaucher disease type 1].
Hu LY, Ren YS, Zhang L … +2 more , Yang R, Meng Y
Zhonghua Yi Xue Za Zhi · 2026 May · PMID 42161615 · Publisher ↗
To evaluate the efficacy and safety of eliglustat tartrate in adult patients with Gaucher disease type 1 (GD1). Adult patients with GD1 confirmed at the First Medical Center of Chinese People's Liberation Army General Ho...
To evaluate the efficacy and safety of eliglustat tartrate in adult patients with Gaucher disease type 1 (GD1). Adult patients with GD1 confirmed at the First Medical Center of Chinese People's Liberation Army General Hospital were prospectively enrolled from October 2023 to June 2024. They received eliglustat tartrate capsules treatment (oral, 84 mg, twice daily) for 52 weeks. The changes in glucosylsphingosine (Lyso-GL1), hemoglobin and platelet count, liver and spleen volumes, multiples of normal (MN) of liver and spleen volumes were observed before and after treatment, and adverse reactions during treatment were recorded. A total of 5 adult patients with GD1 type were included, and all were identified as extensive metabolizers (EMs) via CYP2D6 genotyping. Following 52 weeks of treatment, Lyso-GL1 levels decreased apparently from baseline. Hemoglobin levels and platelet count also increased. Both liver and spleen volumes decreased, with corresponding reductions in MN. One patient reported mild nausea and anorexia, which resolved spontaneously within 2 d without other adverse events. Eliglustat tartrate demonstrates favorable efficacy and safety in these 5 adult GD1patients with EMs.
[Analysis of influencing factors and construction of a predictive model for permanent congenital hypothyroidism in neonates with congenital hypothyroidism].
Luo CW, Zhu XY, Li XL … +3 more , Zhang J, Liu JG, Lyu SB
Zhonghua Yi Xue Za Zhi · 2026 May · PMID 42161614 · Publisher ↗
To analyze the influencing factors and establish a predictive model for permanent congenital hypothyroidism (PCH) in neonates with congenital hypothyroidism (CH). A total of 682 neonates diagnosed with CH between Januar...
To analyze the influencing factors and establish a predictive model for permanent congenital hypothyroidism (PCH) in neonates with congenital hypothyroidism (CH). A total of 682 neonates diagnosed with CH between January and December 2021 at the Third Affiliated Hospital of Zhengzhou University were retrospectively enrolled, including 370 males and 312 females, with the diagnostic age of (17.6±4.3) d. According to the type of CH, the patients were divided into the PCH group (=212) and the transient CH (TCH) group (=470). Differences in various indicators between the two groups were analyzed. Multivariate logistic regression analysis was used to identify the influencing factors of PCH, and a nomogram of the predictive model was constructed. The predictive efficacy, accuracy, and clinical applicability of the model were evaluated using the area under the receiver operating characteristic curve (AUC), calibration curves, and decision curve analysis, respectively. The proportion of maternal thyroid disease history, levels of thyroid-stimulating hormone (TSH) at initial diagnosis, the rate of thyroid ectopia or agenesis, the proportion of pathogenic/likely pathogenic (P/LP) genetic variants, the proportion of biallelic DUOX2/DUOXA2 variants, and the proportion of TPO/TG gene variants were all higher in the PCH group than in the TCH group. In contrast, free thyroxine (FT4) at initial diagnosis, levothyroxine (L-T4) dosage at 1 year of age, and the proportion of normal or enlarged thyroid size were lower in the PCH group than in the TCH group(all <0.05). Multivariate logistic regression analysis showed that increased birth weight (=0.96, 95%: 0.92-0.99), greater gestational age (=0.90, 95%: 0.79-0.98), and higher FT4 at initial diagnosis (=0.79, 95%: 0.73-0.86) were protective factors for PCH. Conversely, maternal history of thyroid disease (=2.14, 95%: 1.52-3.81), elevated TSH at initial diagnosis (=1.12, 95%: 1.08-1.17), higher L-T4 dosage at 1 year of age (=1.94, 95%: 1.45-2.06), abnormal thyroid imaging (=6.83, 95%: 3.92-11.91), and P/LP genetic variants (=2.87, 95%: 1.63-5.06) were risk factors for PCH. Five variables (initial TSH, initial FT4, L-T4 dosage at 1 year of age, thyroid imaging characteristics, and P/LP gene variants) were selected to construct a nomogram prediction model for PCH risk. The AUC of the model for predicting PCH in CH neonates was 0.88(95%: 0.85-0.91), with a sensitivity of 84.0% and a specificity of 80.0%. The calibration curve indicated good calibration of the model, and decision curve analysis showed that the model achieved satisfactory net clinical benefit within the threshold probability range of 0.1-0.7. Higher TSH level at initial diagnosis, lower FT4 level at initial diagnosis, higher L-T4 dosage at 1 year of age, abnormal thyroid imaging, and pathogenic/likely pathogenic (P/LP) genetic variants are factors associated with the prediction of PCH. The nomogram established in this study shows favorable predictive performance and clinical applicability.
[Comparative analysis of the efficacy between endoscopic submucosal dissection combined with low-dose radiotherapy and direct surgical resection for T1a-MM/T1b-SM stage esophageal squamous cell carcinoma].
Geng YQ, Ding Y, Fu CG … +1 more , Shi RH
Zhonghua Yi Xue Za Zhi · 2026 May · PMID 42161613 · Publisher ↗
To compare the efficacy between endoscopic submucosal dissection (ESD) combined with low-dose radiotherapy and direct surgical resection in patients with T1a-MM/T1b-SM stage esophageal squamous cell carcinoma. A retrosp...
To compare the efficacy between endoscopic submucosal dissection (ESD) combined with low-dose radiotherapy and direct surgical resection in patients with T1a-MM/T1b-SM stage esophageal squamous cell carcinoma. A retrospective analysis was performed on the clinical data of 169 patients diagnosed with T1a-MM/T1b-SM stage esophageal squamous cell carcinoma at Zhongda Hospital Affiliated to Southeast University from January 1, 2016 to September 30, 2024. There were 124 males and 45 females, with the age of (65.9±7.9) years. According to different treatment regimens, the patients were divided into the ESD combined with low-dose radiotherapy group (=58) and the direct surgical resection group (=111). Propensity score matching (PSM) was used for 1∶2 matching with respect to lesion length, pathological grade and invasion depth. Follow-up was terminated at the time of patient death or September 30, 2024. The recurrence rate, mortality rate, complication rate and quality-of-life-related indicators were compared between the two groups after PSM. After PSM, a total of 40 patients were included, among whom 18 were in the ESD combined with low-dose radiotherapy group and 22 in the direct surgical resection group. After PSM, there were no statistically significant differences between the two groups in age, lesion length, lesion location, pathological grade, invasion depth, and resection margin status, (all >0.05). The follow-up time was 36.00 (25.75, 41.50) months in the ESD combined with low-dose radiotherapy group and 37.00 (34.25, 48.25) months in the direct surgical resection group, respectively. One death occurred in the ESD combined with low-dose radiotherapy group (due to myocardial infarction), while no deaths occurred in the direct surgical resection group, with no statistically significant difference between the two groups (=0.450). Three recurrences were observed in the ESD combined with low-dose radiotherapy group, whereas no recurrences occurred in the direct surgical resection group, with no statistically significant difference between the two groups (=0.083). The common complication was esophageal stenosis (2 cases in the ESD combined with low-dose radiotherapy group and 1 case in the direct surgical resection group). Complications in the ESD combined with low-dose radiotherapy group were mainly radiotherapy-related, including myelosuppression (4 cases), radiation esophagitis (3 cases), and radiation pneumonitis (2 cases).Complications in the direct surgical resection group mainly included pulmonary infection (4 cases) and anastomotic leakage (1 case). There was no statistically significant difference in the overall complication rate between the two groups (=0.072). The postoperative pain score was lower in the ESD combined with low-dose radiotherapy group than in the direct surgical resection group [(1.17±1.04) vs (2.09±0.81) points, =0.004]. However, there were no statistically significant differences in nutritional status or physical performance score between the two groups (all >0.05). The ESD combined with low-dose radiotherapy group was superior to the direct surgical resection group in all 6 core quality-of-life dimensions: physical function, role physical, bodily pain, general health, vitality, and social functioning(all <0.05). There were no statistically significant differences in role emotional or mental health between the two groups (all >0.05). For patients with T1a-MM/T1b-SM stage esophageal squamous cell carcinoma who have some choose and high-risk factors, ESD combined with low-dose radiotherapy exhibits short-term tumor-control efficacy comparable to that of direct surgical resection. Meanwhile, it demonstrates greater advantages in preserving esophageal function, degree of complications, alleviating postoperative pain and quality of life.
[Relationships of PAI-1 gene polymorphisms with the efficacy of ustekinumab in the treatment of patients with Crohn disease].
Xu JY, Xiong YJ, Lan RT … +3 more , Chen R, Zhu XY, Jiang Y
Zhonghua Yi Xue Za Zhi · 2026 May · PMID 42161612 · Publisher ↗
To explore the relationships of plasminogen activator inhibitor 1 (PAI-1) gene polymorphisms with the efficacy of ustekinumab (UST) in the treatment of patients with Crohn disease (CD). The patients with active CD who r...
To explore the relationships of plasminogen activator inhibitor 1 (PAI-1) gene polymorphisms with the efficacy of ustekinumab (UST) in the treatment of patients with Crohn disease (CD). The patients with active CD who received UST treatment at the Department of Gastroenterology, the Second Affiliated Hospital of Wenzhou Medical University between January 2021 and January 2025 were retrospectively enrolled. Genotypes of PAI-1 gene at loci rs2227631, rs7242 and rs6092 were examined. The clinical response was evaluated based on the Crohn disease activity index (CDAI) at week 8 of follow-up. All the patients were divided into response group (a decline of CDAI≥100 points compared with week 0 or total CDAI<150 points) and non-response group. According to the CDAI and the simplified endoscopic score for Crohn disease (SES-CD), the deep remission was assessed in the patients who had undergone re-examination of colonoscopy at week 32 of follow-up. These patients were divided into deep remission group (CDAI<150 points, plus SES-CD≤2 points or absence of ulcerations) and non-deep remission group. Those patients who achieved clinical response at week 8 and underwent re-examination of colonoscopy at week 32 were further stratified into deep remission subgroup (CDAI<150 points, plus SES-CD≤2 points or absence of ulcerations) and non-deep remission subgroup. The distribution differences of PAI-1 gene polymorphisms were compared between response group and non-response group, deep remission group and non-deep remission group, as well as deep remission subgroup and non-deep remission subgroup. The genotypes or alleles with distribution differences were included into unconditional logistic regression models to explore the relationships of PAI-1 gene polymorphisms with the efficacy of UST treatment in CD patients. A total of 191 CD patients were enrolled, 128 males and 63 females, aged (33±12) years. At week 8 of UST treatment, there were 118 patients in response group and 73 patients in non-response group. The homozygous variant genotype (GG) of locus rs2227631 was less frequent in response group than that in non-response group [36.4% (43/118) vs 54.8% (40/73), =0.039]. The homozygous variant genotype (GG) (=0.48, 95%: 0.26-0.87) of locus rs2227631 was a factor associated with the clinical response at week 8. At week 32, 176 patients received re-examination of colonoscopy, with 52 patients in deep remission group and 124 patients in non-deep remission group. No significant distribution differences of PAI-1 gene polymorphisms existed between both groups (all >0.05). Among the 118 patients who achieved clinical response at week 8, 110 patients completed re-examination of colonoscopy, with 39 patients in deep remission subgroup and 71 patients in non-deep remission subgroup. Compared with non-deep remission subgroup, the homozygous variant genotype (GG) [33.3% (13/39) vs 12.7% (9/71), =0.030] and variant allele (G) [59.0% (46/78) vs 38.7% (55/142), =0.012] of locus rs7242 were more frequent in deep remission subgroup. The homozygous variant genotype (GG) (=2.45, 95%: 1.12-5.37) and variant allele (G) (=1.88, 95%: 1.17-3.03) of locus rs7242 were factors related with the deep remission at week 32 in those patients who achieved clinical response at week 8. The variation of locus rs2227631 may be associated with a reduced clinical response rate at week 8 in CD patients treated with UST. The variation of locus rs7242 may be related to an increased deep remission rate at week 32 in CD patients who achieved clinical response at week 8. However, the variation of locus rs6092 may not affect the efficacy of UST treatment in CD patients.
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