OBJECTIVE: To summarize the clinical and genetic characteristics of children with Silver-Russell syndrome (SRS) and improve the recognition of this disease. METHODS: A retrospective analysis was conducted on the clinical manifestations and genetic testing results of 29 children with SRS diagnosed at the Children's Hospital Affiliated to Zhengzhou University between March 2016 and June 2025. RESULTS: The 29 children had included 18 boys and 11 girls, with the age ranging from 2 months to 16 years. Their primary clinical manifestations included postnatal growth retardation (100%), small for gestational age (SGA) (100%), characteristic facial features (90%), limb asymmetry (83%), feeding difficulties (76%), ulnar deviation of the fifth finger (69%), body mass index (BMI) of < -2 SD (62%), and abnormal bone age (55%), including 15 cases with delayed bone age for an average of 1.5 years and 1 case with advanced bone age for 2.5 years. Additional manifestations included abnormal sexual development in 11 cases (38%), dental malocclusion in 11 cases (38%), allergic diseases in 10 cases (34%), cardiac diseases in 9 cases (31%), skeletal abnormalities in 7 cases (24%), renal hypoplasia in 5 cases (17%), and abnormal cranial MRI findings in 5 cases (17%). Twenty children were treated with recombinant human growth hormone (rhGH) at a dose of 0.1 ~ 0.15 U/(kg.d). Among them, 7 cases achieved annual height increase of ≥ 10 cm, 11 cases achieved annual height increase of ≥ 5 ~ 9 cm, and 2 cases achieved annual height increase < 5 cm. Twenty three children exhibited hypomethylation of imprinted genes in the chromosome region of 11p15, 4 presented maternal uniparental disomy of chromosome 7 [UPD(7)mat], and 2 had harbored nonsense variants of the HMGA2 gene. CONCLUSION SRS patients may present with diverse clinical manifestations including postnatal growth retardation, SGA, characteristic facial features, limb asymmetry, feeding difficulties, and ulnar deviation of the fifth finger. Most patients may exhibit abnormal methylation in the 11p15 region. rhGH therapy can improve the height of these patients.
Humans ; Silver-Russell Syndrome/diagnosis* ; Male ; Female ; Child ; Child, Preschool ; Infant ; Adolescent ; Retrospective Studies

Neurocritical care involves complex pathophysiological mechanisms, and its incidence is higher, injuries are more severe, and treatment is more challenging in high-altitude environments. This consensus, based on the latest domestic and international evidence-based medical data, establishes a standardized, goal-oriented framework for neurocritical care management applicable in high-altitude regions and nationwide. The consensus was developed following international standards for evidence quality assessment and underwent two rounds of Delphi expert consultation, resulting in 32 recommendation statements covering three parts: management systems, monitoring and assessment, and core strategies. Key updates include: advocating for the establishment of independent neurocritical care units and implementing precise tiered diagnosis and treatment based on the "Five Differences in Critical Care" concept; constructing a "trinity" multimodal brain monitoring system centered on cerebral blood flow, cerebral oxygenation, and brain function, emphasizing routine bedside transcranial Doppler ultrasound, cerebral oximetry, and continuous electroencephalography monitoring; shifting management strategies from mild hypothermia therapy to targeted temperature management, and defining the "446" target management pathway for the supercritical stage; emphasizing the assessment of static and dynamic cerebrovascular autoregulation functions through multimodal methods to achieve individualized optimal mean arterial pressure management; elevating cerebrospinal fluid management goals to the level of "glymphatic system" function maintenance; implementing a multidisciplinary collaborative, whole-process management model focusing on patients' long-term neurological functional outcomes; de-escalation criteria include multidimensional indicators such as recovery of brain structure, restoration of cerebrovascular autoregulation, improvement in cerebrospinal fluid dynamics, and reduction in biomarker levels; and integrating cutting-edge technologies like artificial intelligence into post-critical care management and rehabilitation planning. This consensus systematically integrates the entire process of neurocritical care management, reflecting the modern connotation of goal-oriented, dynamic, and multimodal integration in neurocritical care medicine. It aims to adapt to new trends such as deepening understanding of pathophysiological mechanisms, the integration of medicine and engineering, and the empowerment of artificial intelligence, thereby further advancing the discipline of critical care medicine.

ObjectiveTo investigate the mechanism by which Jianpi Xiao'ai prescription （JPXAP） inhibits colorectal cancer progression by regulating the inducible nitric oxide synthase-arginase 1 （iNOS-ARG1） metabolic axis and inducing mitochondrial reactive oxygen species （mito-ROS）-mediated mitochondrial structural and functional impairment. MethodsAn arginine metabolism disorder model of human colorectal cancer HCT116 cells was established by combined treatment with recombinant human interferon-γ （IFN-γ， 10 μg·L^-1） and N（ω）-hydroxy-L-arginine （Nor-NOHA， 200 μmol·L^-1） for 24 h， followed by intervention with 5%， 10%， or 20% JPXAP-containing serum. Cell proliferation was assessed using cell counting kit-8 （CCK-8）， 5-ethynyl-2′-deoxyuridine （EdU） staining， and colony formation assays. Cell invasion and migration were evaluated using Transwell chamber and wound healing assays. Mitochondrial membrane potential （MMP） and ROS levels were assessed by JC-1 and MitoSOX staining， respectively. Mitochondrial ultrastructure was observed by transmission electron microscopy （TEM）. The expression of iNOS， ARG1， and mitochondrial dynamics-related proteins， including mitofusin 2 （MFN2） and dynamin-related protein 1 （DRP1）， was analyzed by Western blot and immunofluorescence. The levels of L-arginine， citrulline， and urea were determined by colorimetric methods and enzyme-linked immunosorbent assay （ELISA）. ResultsCompared with the blank group， the model group exhibited significantly upregulated iNOS expression， downregulated ARG1 expression， a decreased ARG1/iNOS ratio， reduced L-arginine and urea levels， and increased citrulline levels （P<0.05）. Meanwhile， mito-ROS accumulation was significantly increased， the JC-1 red/green fluorescence ratio was decreased， and mitochondria showed swelling and cristae disruption， indicating that metabolic disorder induced mitochondrial injury. Compared with the model group， all JPXAP-treated groups further decreased the ARG1/iNOS ratio， enhanced nitric oxide （NO） and reactive nitrogen species accumulation， further reduced L-arginine and urea levels， and increased citrulline levels （P<0.01）. EdU-positive rate， colony formation rate， wound healing rate， and Transwell invasion number all decreased significantly with increasing serum concentration （P<0.01）. Mito-ROS levels were further elevated， and the JC-1 red/green ratio further decreased. TEM revealed aggravated mitochondrial swelling and vacuolization. MFN2 expression was downregulated and DRP1 expression was upregulated （P<0.01），in a dose-dependent manner. ConclusionJPXAP further activates NO-mediated oxidative/nitrosative stress under arginine metabolism imbalance， inducing mito-ROS accumulation， MMP collapse， and mitochondrial dynamics imbalance， thereby inhibiting colorectal cancer cell proliferation and migration. These findings reveal an antitumor mechanism of JPXAP based on coordinated targeting of the "metabolism-mitochondria" axis.

Objective:In order to effectively educate students on tooth defect diseases and restoration techniques, the teaching and research team at the School of Stomatology of Qingdao University developed an integrated course operative dentistry. This course is specifically designed to align with the undergraduate curriculum reform requirements of "Three Early, Two Multiple and One Integration".Methods:The teaching practice of operative dentistry was conducted with the stomatology undergraduates of grade 2020 and 2021. The course group redesigned the curriculum by reorganizing teaching content, rebuilding teaching resources, reconstructing teaching mode, and reshaping the evaluation system. Evaluation of the curriculum design included test scores, satisfaction questionnaires, and teacher self-evaluation. Statistical analysis was performed using SPSS 27.0 software, including independent sample t-tests for numerical variables and Fisher's exact test or Wilcoxon rank sum test for categorical variables. Results:Through the integrated course learning, 92.68% (38/41) of the students of grade 2020 and 97.44% (38/39) of the students of grade 2021 can basically or completely master various dental defect repair schemes and understand the importance of preserving natural tooth. 82.93% (34/41) of the students of grade 2020 and 100.00% (39/39) of the students of grade 2021 could basically or completely master the key points of various dental defect restorations.Conclusions:Through the practice of teaching, it has been confirmed that the integrated course of operative dentistry is beneficial to students' mastering the knowledge and skills of dental defect diseases and their restoration in a more comprehensive way, and is conducive to the cultivation of clinical thinking, hands-on ability and the patient-centered, comprehensive problem-solving thinking, which is in line with the guidance on the innovation and development of medical education.

Mitochondrial diabetes mellitus(MDM)is a genetically heterogeneous disorder caused by mitochondrial DNA(mtDNA)or nuclear DNA mutations,characterized by multi-system involvement and diverse clinical phenotypes.We report a pediatric case presenting with growth retardation followed by subsequent development of diabetes mellitus.Systematic evaluation revealed concurrent bilateral sensorineural hearing loss,bilateral basal ganglia calcification,and electroencephalographic abnormalities.A post-exercise lactate test demonstrated significant elevation of serum lactate levels immediately after physical exertion.Genetic analysis identified a large-scale mitochondrial DNA deletion spanning from m.8649 to m.16084.This case re-port is complemented by a literature review focusing on the pathogenesis,genetic characteristics,and therapeu-tic approaches of mitochondrial diabetes,with particular emphasis on mitochondrial disorders exhibiting large-scale mtDNA deletions alongside diabetic manifestations.Our comprehensive analysis aims to enhance clinical understanding and inform diagnostic strategies for this complex disease entity.

Objective To explore the barriers to postoperative self-management behaviors in patients with pituitary adenoma and provide a theoretical basis for developing nursing intervention strategies.Methods Using a purposive sampling method,16 postoperative pituitary adenoma patients admitted to a tertiary hospital in Zhengzhou from July 2024 to January 2025 were selected for semi-structured interviews.The interview data were analyzed and refined through Colaizzi's phenomenological analysis method.Results A total of 4 themes and 12 subthemes were extracted,including postoperative physiological dysfunction(sensory dysfunction,difficulty in managing diabetes insipidus,fatigue syndrome),psychosocial adaptation barriers(self-image distress,fear of disease recurrence,restricted information delivery),challenges in maintaining health behaviors(environment-behavior conflicts,insufficient adherence to medication and activity guidelines,inadequate complication management),deficiencies in support systems(non-specific postoperative guidance,poor communication channels,insufficient coordination of medical resources).Conclusion Postoperative self-management behaviors in pituitary adenoma patients are influenced by multidimensional factors,necessitating comprehensive intervention strategies addressing physiological,psychological,behavioral,and systemic support levels.

Objective:To construct a medical quality evaluation index system for inpatients in public hospitals based on the life cycle theory,starting from the entire process of medical treatment.Method:A comprehensive study was conducted on the screening of medical quality evaluation indicators for hospitalized patients using literature analysis,key informant interviews,and expert inquiry methods.Results:The effective recovery rate of the two rounds of expert consultation was 100%,with high enthusiasm from the experts.The authority coefficient was above 0.7,and Kendall's W coordination coefficient was 0.267(P＜0.05).The evaluation indicators for medical quality of hospitalized patients,including 3 primary indicators,10 secondary indicators,and 51 tertiary indicators,were determined.Conclusions:The medical quality evaluation index system for inpatients in public hospitals based on the life cycle theory has certain scientificity and reliability.However,the weight analysis of the index system has not been carried out and is still in the theoretical exploration stage.Further empirical research is needed for verification and improvement.

Objective To observe the association of the changes in monocyte to high density lipo-protein cholesterol ratio(MHR)and thromboxane B2(TXB2)with risk of left atrial appendage thrombus(LAAT)in elderly patients with atrial fibrillation(AF).Methods A retrospective study was conducted on 152 elderly AF patients admitted in our hospital from May 2022 to May 2024.According to the results of transesophageal echocardiography,they were divided into thrombus group(46 cases)and non-thrombus group(106 cases).Blood MHR and TXB2 levels were measured and calculated,and the predictive efficacy of MHR and TXB2 levels for the risk of LAAT was analyzed.Results The thrombus group had older age,larger left atrial diameter(LAD),higher monocyte count,and larger proportion of persistent AF(P＜0.01),while lower LVEF and HDL-C levels when compared with the non-thrombus group(P＜0.05,P＜0.01).The MHR and TXB2 level were significantly higher in the thrombus group than those in non-thrombus group(P＜0.01).Multivariate logistic regression analysis indicated that age(OR=1.244,95％CI:1.022-1.466,P=0.028),persistent AF(OR=29.290,95％CI:4.573-187.610,P=0.000),LAD(OR=1.502,95％CI:1.203-1.876,P=0.000),MHR(OR=1.115,95％CI:1.055-1.178,P=0.000)and TXB2(OR=1.064,95％CI:1.031-1.097,P=0.000)were risk fac-tors for LAAT in elderly AF patients,and LVEF(OR=0.813,95％CI:0.707-0.935,P=0.004)was a protective factor.ROC curve analysis suggested that the AUC value of MHR and TXB2 in evaluating the risk of LAAT in elderly AF patients was 0.767 and 0.829,respectively.Conclusion MHR and TXB2 are abnormally elevated in elderly AF patients with LAAT.They are risk factors affecting the occurrence of LAAT,and have certain predictive value for the risk of LAAT.

OBJECTIVE To analyze the characteristics of imported malaria cases in West China Hospital of Sichuan University in recent years and to provide reference for the prevention and control of imported infectious diseases.METHOD A retrospective analysis of 62 cases of imported malaria from abroad reported in West China Hospital of Sichuan University from 2012 to 2023 were retrospectively analyzed.RESULTS From 2012 to 2023,62 cases of imported malaria were reported,including 49 cases(79.03％)of falciparum malaria,10 cases(16.13％)of vivax malaria,and 3 cases(4.84％)of ovale malaria.Among the imported malaria cases,9 cases were severe malaria,with 8(16.33％,8/49)severe cases caused by falciparum malaria,of which 6 cases(75.00％,6/8)were cere-bral malaria.The cases were mainly Chinese citizens and young-to-middle-aged adults,with the highest concentra-tion in the 40-49 age group(37.10％,23/62).There were more males than females,with a male-to-female sex ratio of 11.4∶1;the predominant occupation was worker(38.71％,24/62).The primary region of importation was Africa(90.32％,56/62).There was importation throughout the year,with no distinct seasonal distribution pattern.Two of the admitted cases died(severe cases of falciparum malaria,which developed into cerebral malari-a),while the rest were improved and discharged from the hospital after standardized treatment.CONCLUSIONS Cases of imported malaria from abroad are characterized by Chinese nationality,males,young adults and workers.The type of malaria is mainly falciparum malaria,and the prognosis for most cases is relatively good.It is necessary to strengthen the construction of joint prevention and control systems and other long-term mechanisms,and to continuously and scientifically implement various strategies and measures to prevent the re-emergence of malaria through imported ca-ses,in order to avoid the occurrence of secondary cases resulting from imported infections.

Objective To investigate the distribution and antimicrobial resistance profiles of common pathogens isolated from cerebrospinal fluid(CSF)in CHINET program from 2015 to 2021.Methods The bacterial strains isolated from CSF were identified in accordance with clinical microbiology practice standards.Antimicrobial susceptibility test was conducted using Kirby-Bauer method and automated systems per the unified CHINET protocol.Results A total of 14 014 bacterial strains were isolated from CSF samples from 2015 to 2021,including the strains isolated from inpatients(95.3％)and from outpatient and emergency care patients(4.7％).Overall,19.6％of the isolates were from children and 80.4％were from adults.Gram-positive and Gram-negative bacteria accounted for 68.0％and 32.0％,respectively.Coagulase negative Staphylococcus accounted for 73.0％of the total Gram-positive bacterial isolates.The prevalence of MRSA was 38.2％in children and 45.6％in adults.The prevalence of MRCNS was 67.6％in adults and 69.5％in children.A small number of vancomycin-resistant Enterococcus faecium(2.2％)and linezolid-resistant Enterococcus faecalis(3.1％)were isolated from adult patients.The resistance rates of Escherichia coli and Klebsiella pneumoniae to ceftriaxone were 52.2％and 76.4％in children,70.5％and 63.5％in adults.The prevalence of carbapenem-resistant E.coli and K.pneumoniae(CRKP)was 1.3％and 47.7％in children,6.4％and 47.9％in adults.The prevalence of carbapenem-resistant Acinetobacter baumannii(CRAB)and Pseudomonas aeruginosa(CRPA)was 74.0％and 37.1％in children,81.7％and 39.9％in adults.Conclusions The data derived from antimicrobial resistance surveillance are crucial for clinicians to make evidence-based decisions regarding antibiotic therapy.Attention should be paid to the Gram-negative bacteria,especially CRKP and CRAB in central nervous system(CNS)infections.Ongoing antimicrobial resistance surveillance is helpful for optimizing antibiotic use in CNS infections.