OBJECTIVE: To summarize the clinical features and management of two brothers affected with X-linked inhibitor of apoptosis protein (XIAP) deficiency. METHODS: This study retrospectively analyzed the clinical presentations, treatment, and follow-up of two brothers with XIAP deficiency diagnosed at Shanghai Children's Hospital in 2020, and summarized similar cases recorded in databases such as PubMed, Wanfang, Chinese Medical Association Journals, and WIP from January 2006 to November 2024. This study was approved by the Medical Ethics Committee of our hospital (Ethics No.: 2025R128-E01). RESULTS: Patient 1 was the younger brother, who presented at 8 years of age with growth retardation, folliculitis, erythema nodosum, and perineal abscess. Sequencing revealed that he has carried a hemizygous c.566T>C (p.Leu189Pro) variant of the XIAP gene, which was inherited from his mother. He was allergic to infliximab treatment and underwent allogeneic stem cell transplantation (HSCT) in January 2021. During a follow-up of 3 years and 10 months post-transplantation, he showed no gastrointestinal symptoms and had a good outcome. Patient 2 was the elder brother, who presented at 10 years and 6 months of age with growth retardation, rash, and anal fistula. Genetic testing revealed the same variant. He was treated with oral azathioprine but did not have regular follow-ups. At 14-years-and-6-months of age, he had developed severe gastrointestinal infection and hemophagocytic lymphohistiocytosis, which was alleviated after treatment with antibiotics, glucocorticoids, immunoglobulin, and rituximab. He is currently being prepared for HSCT. A total of 13 publications were retrieved, which involved 64 patients from 23 families, with 23 different variants identified. The main clinical manifestations included splenomegaly (34 cases, 53.1%), hemophagocytic lymphohistiocytosis (27 cases, 42.2%), and inflammatory bowel disease or colitis (20 cases, 31.8%). There were significant phenotypic differences among patients from the same family. Thirteen patients (20.3%) underwent HSCT, with a survival rate of 61.5%. CONCLUSION For male children with early onset, poor treatment response, especially those with unexplained splenomegaly and IBD-like symptoms, early genetic testing is recommended. HSCT is a safe and effective treatment for XIAP deficiency. For patients with developmental delay, early onset, and severe IBD phenotype, early transplantation is recommended.
Humans ; Male ; X-Linked Inhibitor of Apoptosis Protein/deficiency* ; Child ; Genetic Diseases, X-Linked/therapy* ; Phenotype ; Siblings ; Retrospective Studies ; Hematopoietic Stem Cell Transplantation

Background: and Purpose In patients with large vessel occlusion (LVO), intravenous thrombolysis (IVT) frequently alters thrombus location; however, the clinical impact of this phenomenon remains unclear. We aimed to compare post-IVT thrombus dynamics between tenecteplase and alteplase and to evaluate the association between thrombus dynamics and 3-month outcomes. Methods: This retrospective study analyzed prospectively collected, multicenter data from consecutive patients with LVO who underwent bridging therapy between January 2022 and December 2024. Thrombus dynamics were classified as resolution, migration, or stability. Analyses incorporated propensity score matching with weighting to balance baseline characteristics. Results: Of the 806 initially included patients, 746 were included after matching (373 treated with tenecteplase and 373 treated with alteplase). The incidence of thrombus migration was significantly higher in the tenecteplase group than in the alteplase group (19.3% vs. 11.3%; odds ratio [OR]: 1.92; 95% confidence interval [CI] 1.27–2.91). The advantage of tenecteplase over alteplase was restricted to patients with an IVT-to-puncture time of <60 minutes (18.6% vs. 6.2%; p=0.001) and was no longer significant when the interval ≥60 minutes (19.7% vs. 15.0%; p=0.204; pinteraction=0.043). Additionally, thrombus migration was associated with a better functional outcome (OR: 1.62; 95% CI 1.04–2.53). Finally, tenecteplase was associated with improved functional independence compared with alteplase (OR: 1.43; 95% CI 1.04–1.95). Conclusions Tenecteplase demonstrated superior efficacy in inducing thrombus migration compared with alteplase, particularly within 60 minutes of IVT administration. Thrombus migration independently predicted improved functional independence. These findings support the preferential use of tenecteplase for bridging therapy in patients with LVO.

Hepatocellular carcinoma (HCC) is a leading cause of cancer-associated death globally. Liver transplantation (LT) has emerged as a key treatment for patients with HCC, and the Milan criteria have been adopted as the cornerstone of the selection policy. To allow more patients to benefit from LT, a number of expanded criteria have been proposed, many of which use radiologic morphological characteristics with larger and more tumors as surrogates to predict outcomes. Other groups developed indices incorporating biological variables and dynamic markers of response to locoregional treatment. These expanded selection criteria achieved satisfactory results with limited liver supplies. In addition, a number of prognostic models have been developed using clinicopathological characteristics, imaging radiomics features, genetic data, and advanced techniques such as artificial intelligence. These models could improve prognostic estimation, establish surveillance strategies, and bolster long-term outcomes in patients with HCC. In this study, we reviewed the latest findings and achievements regarding the selection criteria and post-transplant prognostic models for LT in patients with HCC.

Objective:To comprehensively analyze the current situation of the policy tools for primary healthcare medication continuity and security in China,and to provide advice for improving the policy system of primary healthcare medication continuity and security.Methods:Based on the theory of policy tools,a two-dimensional analysis framework of"policy tools-policy goals"was constructed.Results:A total of 407 policy text codes were generated from 58 policy texts included in the analysis.Among them,the supply-based policy tools were the most(41.03%),followed by environmental(37.59%)and demand-based(21.38%);the policy goals mainly focused on promoting the equipment and linkage of medication(21.84%),optimizing the types of medication(18.88%),and improving the centralized supply and distribution of medication(18.25%).Conclusions:Significant regional disparities exist in the design and implementation of China's primary healthcare medication continuity and security policies.Certain policy tools are absent,policy objectives lack comprehensive coverage,and coordination remains inadequate.It is suggested to optimize regional policy layouts through differentiated configuration and cross-regional coordination,enhance policy adaptability by refining policy tool combinations,strengthen weak segments and vertical coordination,promote the articulation of primary healthcare medication based on tight medical consortium,and finally build a systematic and dynamically adaptive primary healthcare medication continuity and security policy system.

Objective To explore the variable pressure matress and thermoplastic mold applied to cone beam CT-guided radiotherapy of abdominal and pelvic cancer in terms of translation error,rotation angle error and setup reproducibility of patients with different body mass indexes(BMIs),so as to provide references for the selection of body fixation mode.Methods Totally 70 patients with abdominal and pelvic tumors admitted to some hospital from April 2021 to March 2022 were retrospectively selected,and divided into a variable pressure mattress group and a thermoplastic mold group according to the fixation method,with 35 patients in each group.All the patients in the two groups underwent examinations with cone beam computed tomography(CBCT)at the first radiotherapy treatment and during the course of the treatment,and the image registration was carried out between validation images and planning images.The two groups were compared in terms of rotation angle error and thranlation error at the directoins of x axis(lateral directions),y axis(cranial-caudal)and z axis(ventral-dorsal).Taking the center point image of the initial positioning as the reference,the errors of the center points of the two groups at z and y axes(Δz and Δy)were compared.The setup reproducibility was set as Δz≤5 mm and Δy≤3 mm,and the setup reproducibility rates of the two groups were summarized.All the patients were categorized into non-overweight ones(BMI<25 kg/m2)and overweight ones(BMI≥25 kg/m2),and the setup reproducibility rates of the patients with different BMIs were counted.SPSS 26.0 software was used for statistical analysis.Results The two groups had no significant differences in translation error at the directions of x and y axes(P>0.05).The variable pressure mattress group had the translation error at the direction of z axis statistically lower than that of the thermoplastic mold group(P<0.05).There were no significant differences between the two groups in rotation angle error(P=0.219 3).The two groups had significant differences in setup reproducibility(P=0.033 4).The non-overweight patients had the setup reproducibility rate being 40.00%in the variable pressure mattress group,and 77.14%in the thermoplastic mold group;the overweight patients had the setup reproducibility rate being 25.71%in the variable pressure mattress group and only 2.86%in the thermoplastic mold group,with the differences between the two groups being statistically significant(P=0.002 9).Conclusion The variable pressure mattress and thermoplastic mold both result in low setup errors when applied to fixation during the radiotherapy of abdominal and pelvic cancer,the thermoplastic mold fixation can be used for the patients with BMIs lower than 25 kg/m2 with decreased translation errors at the direction of z axis,and the variable pressure mattress fixation was suitable for the patients with BMIs not lower than 25 kg/m2.[Chinese Medical Equipment Journal,2025,46(7):45-50]

This study systematically summarizes and analyses the current situation and the generation mechanism of overmedication in China based on the uncertainty and information asymmetry of medical services,and then puts forward targeted governance strategies.The study finds that overmedicalization in China is mainly manifested in the overuse of hospitalization,examinations,and surgical procedures,with the problem being particularly severe in primary healthcare institutions.The study concludes that the formation of overmedicalization in China is the product of the combined effect of multiple factors including the interest-driven mechanism,the supply of medical resources,the cognitive bias of patients,the payment method of medical insurance and the regulatory mechanism of medical behaviour.Based on these analyses,we propose five governance measures:deepening the reform of public hospital compensation systems,strengthening the planning of medical and health insurance resources,optimizing the health insurance benefit system and payment methods,establishing a disease-based medical behavior regulation system,and enhancing public health education.The coordinated implementation of these measures could suppress the overmedicalization effectively,improve the efficiency of healthcare services and achieve the high-quality development of China's healthcare system.

Objective To design a VR-based air evacuation training system for simulating the on-board medical treatment process during air evacuation.Methods A VR-based air evacuation training system was developed which used 3D modeling technology to construct models of the medical aircraft cabin,medical devices and virtual characters to achieve scene interaction.The hardware part of the system included server computers,training terminal computers,VR equipment,3D fusion projection equipment,motion capture equipment,etc.The software of the system was developed using C++,UE4 Blueprint and C# programming languages,including two modules for medical treatment unit and medical treatment training process evaluation.The efficacy of the system was verified by the trials in air evacuation.Results The system developed successfully simulated the scenarios of tracheal tube dislodgement and increased intracranial pressure in the scenario model of open severe craniocerebral injury.The expert evaluation showed that the system gained advantages in training efficiency,low cost,safety,sense of immersion and recorded the operation data in real time to optimize the follow-up training.Conclusion The system developed delivers a virtual training environment with high-fidelity replication of real-mission conditions,enabling whole-course and immersive air evacuation drills.[Chinese Medical Equipment Journal,2025,46(3):15-20]

Objectives:To explore the relationship between carboxymethyl lysine (CML) and type 2 diabetes (T2DM) with myopenia, so as to provide some clinical reference for clinical prevention and early intervention of myopenia.Methods:A case-control study was conducted, selecting 142 T2DM patients admitted to the Endocrinology Department of the Affiliated Hospital of North China University of Science and Technology from November 2022 to November 2023. According to the diagnostic criteria of the 2019 consensus of experts on the diagnosis and treatment of sarcopenia, the patients were divided into a case group (T2DM with sarcopenia, 58 cases) and a control group (T2DM without sarcopenia, 84 cases). Collect and compare general information, serological data, and body composition data of two groups of patients. Two independent sample t-test is used for inter group comparison of metric data that conforms to normal distribution; Non parametric tests are used for inter group comparisons of non normally distributed quantitative data; The comparison of count data between groups is conducted using χ2 test. Multivariate logistic regression analysis was used to analyze the relationship between carboxymethyl lysine and type 2 diabetes with myopenia. Draw receiver operating characteristic (ROC) curves and analyze the efficacy of carboxymethyllysine in diagnosing T2DM with muscle atrophy. Results:Univariate analysis showed the BMI ((21.59±3.04) kg/m 2), FINS (4.49 (1.85,9.03) U/L), and FCP ((1.45±0.96) mg/L) levels of the patients in the case group were lower than those in the control group(27.32±3.74) kg/m 2, 6.91 (3.74, 11.99) U/L, (2.64±1.23) mg/L), while age, ((64.67±6.75) years old) of disease duration(12.16±6.69) years, and CML (5.70±2.14 μg/L) were higher than those in the control group ((62.23±7.33) years old, (8.70±8.01) years, (2.38±0.73) μg/L), and the differences were statistically significant (Statistical values were t=9.66, Z=2.86, t=6.46, t=2.02, t=2.70, t=13.17; P values were <0.001, 0.004, <0.001, 0.046, 0.008, <0.001). Multifactorial binary logistic regression analysis showed that CML ( OR(95%CI):3.242 (1.933-5.437)) and BMI ( OR(95%CI):0.636 (0.505-0.801)) were associated with T2DM combined with sarcopenia (all P<0.001). The results of the ROC curve showed that the area under the curve (AUC) of CML was 0.934, and the corresponding optimal cut-off value was 3.038 μg/L. The diagnostic efficacy of CML for the diagnosis of T2DM combined with myasthenia gravis was high, and the diagnostic results were in good agreement with the actual results. Conclusions:Carboxymethyl lysine is associated with T2DM combined with muscle atrophy. CML has a high diagnostic efficacy in diagnosing T2DM combined with muscle atrophy, and it has certain practical value in diagnosing T2DM combined with muscle atrophy.

Objective:To systematically analyze the impact of various physician payment methods on medical service delivery behavior and outcomes.Methods:Based on the scoping review method,2 255 documents related to"physician","compensation","payment method",and"physician behavior"were retrieved from Web of Science,CNKI,VIP,and WanFang databases,and finally 70 studies were included based on scientific screening standards and process.Results:Fee-for-service encourages physicians to deliver an adequate volume of services but is susceptible to overtreatment;salary and capitation assist in controlling costs but can lead to insufficient service provision;the advantages of DRG/DIP in the quantity and quality of medical services weaken as the patient's condition worsens.Mixed payment methods can effectively balance the quantity and cost of medical services,while pay-for-performance is generally outstanding in improving quality.Conclusions:It is difficult for a single payment method to achieve the optimization of medical service delivery behavior and outcomes.A mixed payment system that integrates multiple payment methods with quality incentives must be established urgently.At the same time,it is recommended to deepen the reform of the mechanism for converting medical insurance balance into physician compensation,fully implement the allocation autonomy of public hospitals,and accelerate the establishment of a mixed physician payment method that is coordinated with medical insurance payment and performance appraisal.

Objective:To compare the efficacy of neuroendoscopy-assisted small bone window craniotomy and large bone flap craniotomy for acute subdural hematoma (ASDH) evacuation in elderly patients.Methods:A retrospective cohort study was conducted to analyze the clinical data of 57 elderly patients with ASDH admitted to Chongqing University Fuling Hospital from November 2020 to November 2023, including 27 males and 30 females, aged 65-89 years [(75.0±7.0)years]. The preoperative Glasgow coma scale (GCS) ranged 8-15 points [11.0(11.0, 12.0)points]. Among them, 27 patients were treated with neuroendoscopy-assisted small bone window craniotomy to evacuate ASDH (small bone window group) and 30 received large bone flap craniotomy to evacuate ASDH (large bone flap group). The following parameters were compared between the two groups: surgical duration, intraoperative blood loss, and length of hospital stay; residual subdural hematoma volume before surgery and at 1 day after surgery; GCS before surgery, at 1 and 3 days after surgery; good rate of Glasgow outcome scale (GOS) at 7 days and 6 months after surgery; and postoperative complication rate.Results:All the patients were followed up for 6 months. The surgical duration, intraoperative blood loss, and length of hospital stay were 89.0(85.0, 96.0)minutes, 65.0(55.0, 85.0)ml, and 15.0(14.0, 16.0)days, respectively in the small bone window group, which were shorter or less than 135.0(127.5, 150.0)minutes, 332.0(308.0, 367.5)ml, and 18.5(16.0, 20.0)days in the large bone flap group ( P<0.01). There was no statistically significant difference in the residual subdural hematoma volume between the two groups before surgery and at 1 day after surgery ( P>0.05). No statistically significant difference was found in GCS scores between the two groups before surgery ( P>0.05), while the GCS scores in the small bone window group at 1 and 3 days after surgery [12.0(12.0, 13.0)points and 15.0(14.0, 15.0)points] were higher than 11.5(11.0, 12.0)points and 13.0(12.8, 14.0)points in the large bone flap group ( P<0.01). The good rate of GOS in the small bone window group at 7 days after surgery was 100% (27/27), higher than 77% (23/30) in the large bone flap group ( P<0.05), but no statistically significant difference was found in the good rate of GOS between the two groups at 6 months after surgery ( P>0.05). Two patients in the small bone window group had pulmonary infection after surgery, with a complication rate of 7% (2/27), while in the large bone flap group, four patients had pulmonary infection, two epidural hematoma, one intracranial infection, one delayed wound healing, one subcutaneous fluid accumulation, and one epilepsy after surgery, with a complication rate of 33% (10/30) ( P<0.05). Conclusion:Compared with the conventional large bone flap craniotomy, neuroendoscopy-assisted small bone window craniotomy can shorten the surgical duration and length of hospital stay, reduce the intraoperative bleeding volume, promote early functional recovery, improve prognosis, and reduce the complication rate in elderly patients with ASDH.