To analyze the treatment strategy for a 78-year-old female patient with mismatch repair deficient (dMMR) gastric cancer who achieved long-term survival. After third-line chemotherapy failed, gene testing showed ARID1A p.Gln748fs, c.2733-1G＞T variation, with PD-L1 TPS 30%, CPS 60%. The nivolumab was employed, and two weeks later, the best response was partial response (PR). During the fourth-line immunotherapy maintenance treatment, progression of left adrenal metastasis was observed. The expression of human epidermal growth factor receptor-2 (HER-2) was positive, and the antibody drug conjugate disitamab vedotin (RC48) was chosen for treatment. After 10 months of treatment with nivolumab combined with RC48, the best efficacy was assessed as stable disease (SD), with a progression free survival (PFS) of up to 12 months. Radiotherapy was employed, and immunotherapy was maintained, allowing the patient to achieve a PFS of 18 months again. During immunotherapy, a clinical pharmacist developed a personalized pharmaceutical care plan for this patient. At the last follow-up, this patient achieved 78 months of long-term survival.

Objective: To analyze the association between altitudes and nutritional status of children and adolescents, and to explore the moderating effects of dietary behaviors and physical activity, so as to provide a scientific basis for developing lifestyle interventions tailored to local conditions. Methods: From September to November 2023, physical examinations and questionnaire surveys were conducted among children and adolescents aged 7-17 in two autonomous regions, Inner Mongolia and Xizang, with a final sample of 156 511 participants by the stratified cluster random sampling method. Height and weight were measured to calculate body mass index (BMI). Sociodemographic characteristics, dietary behaviors, and physical activity were collected via questionnaires, while the altitude of each participant s school was obtained using Amap. Logistic regression was performed to examine the relationship between altitudes and nutritional status. Interaction terms and stratified analyses were applied to assess the moderating effects of dietary behaviors and physical activity. Restricted cubic spline (RCS) were used for visualization. Results: In 2023, the prevalence of wasting and overweight/obesity among children and adolescents in Xizang were 9.7% and 9.0%, respectively, compared to 2.9% and 22.0% in Inner Mongolia. Logistic regression analysis results showed that for every 1 km increase in altitude, the risk of wasting increased, while the risk of overweight/obesity decreased ( OR =1.43, 0.19, both P <0.05). The results of the stratified analysis showed that compared to those living at altitudes <1 km, children and adolescents with healthy diets showed no significant association between altitudes (1-<2 and 2-<3 km) and wasting ( OR =1.22, 0.75, both P >0.05), whereas significant associations were observed at 3-<4 and ≥4 km altitudes ( OR =2.25, 2.89, both P <0.05). In contrast, unhealthy dietary groups showed statistically significant associations across altitudes ( OR =1.18-4.04, all P <0.05), consistent with RCS results. No moderating effects were observed for physical activity on the altitude wasting association or for dietary behaviors and physical activity combined on the altitude overweight/obesity association ( P interaction =0.63, 0.10, 0.53). Conclusion Healthy dietary behaviors play a critical role in improving the nutritional status of children and adolescents and reducing regional disparities, providing a scientific foundation for public health policy formulation and implementation.

Objective: To explore the distribution of traditional Chinese medicine (TCM) syndromes in patients with interstitial lung disease (ILD) and its influencing factors. Methods: This cross-sectional study included 385 patients with ILD admitted to the First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Chinese Medicine) from January 2018 to June 2022. Data on sex, age, body mass index, smoking history, respiratory rate, hospitalization time, treatment cost, whether velcro rales can be heard, comorbidities with rheumatic immune diseases, TCM four examination information, and clinical examination results, including CT imaging, D-dimer level, and lung function-related indicators, were collected. The distribution pattern of TCM syndromes in patients with ILD and the association between TCM syndromes and clinical indicators were analyzed using the cluster analysis and binary Logistic regression analysis. Results: Among the 385 patients with ILD, sticky phlegm (59.74%) and shortness of breath (56.10%) were common symptoms, while greasy tongue coating (55.32%), red tongue (52.73%), and slippery and rapid pulse (25.71%) were common tongue and pulse manifestations. The patients were divided into five syndromes using cluster analysis: syndrome of phlegm-heat stagnation in the lung (36.62%), syndrome of turbid phlegm obstructing lung (29.35%), syndrome of deficiency of both qi and yin (12.99%), syndrome of qi deficiency of lung and kidney (11.95%), and syndrome of phlegm and blood stasis obstructing lung (9.09%). The D-dimer level was lower in patients with syndrome of phlegm-heat stagnation in the lung, syndrome of turbid phlegm obstructing lung, syndrome of deficiency of both qi and yin, and syndrome of qi deficiency of lung and kidney than in those with syndrome of phlegm and blood stasis obstructing lung (P<0.05). The percentage of predicted forced vital capacity (FVC%pred) of patients with syndrome of phlegm-heat stagnation in the lung, syndrome of turbid phlegm obstructing lung, syndrome of deficiency of both qi and yin, and syndrome of phlegm and blood stasis obstructing lung was higher than in those with syndrome of qi deficiency of lung and kidney (P<0.05). Among patients aged 60 and above, those with syndrome of phlegm-heat stagnation in the lung, syndrome of phlegm and blood stasis obstructing lung, and syndrome of deficiency of both qi and yin containing dual pathogenic syndrome elements were more likely to experience moderate to severe pulmonary diffusion impairment than those with syndrome of turbid phlegm obstructing lung and syndrome of qi deficiency of lung and kidney containing single pathogenic syndrome elements (P<0.05). The Logistic regression showed that the FVC%pred was an influential factor for syndrome of qi deficiency of lung and kidney, and the area under the receiver operating characteristic (ROC) curve (AUC) between FVC%pred and the formation of syndrome of qi deficiency of lung and kidney was 0.676 (95%CI: 0.598-0.755), P=0.002. The sensitivity was 0.431, the specificity was 0.966, and the best threshold on the ROC curve of 0.397 was 79.1%. The D-dimer level was an influential factor in the formation of syndrome of phlegm and blood stasis obstructing lung. The AUC between D-dimer level and the formation of syndrome of phlegm and blood stasis obstructing lung was 0.729 (95%CI: 0.655-0.802), P<0.001. The sensitivity was 0.914, the specificity was 0.523, and the best threshold on the ROC curve of 0.437 was 0.675 mg/L. Conclusion syndrome of phlegm-heat stagnation in the lung and syndrome of turbid phlegm obstructing lung are common among patients with ILD. Complex pathological syndromes are more likely to exacerbate pulmonary diffusion dysfunction. The FVC%pred can assist in differentiating syndrome of qi deficiency of lung and kidney, whereas the D-dimer level can assist in differentiating syndrome of phlegm and blood stasis obstructing lung.

Objective To analyze the incidence,colonization pathways,and predictive factors of bacterial colonization of epidural analgesia catheters in patients with chronic pain.Methods A total of 150 patients with chronic pain who underwent continuous epidural catheterization(catheter in-dwelling time of 7 to 10 days)were selected as study subjects.Samples from three sites were collect-ed for bacterial culture.Clinical data of the patients were collected,and the positive rate of bacterial culture,characteristics of bacterial species distribution,and bacterial colonization pathways were ana-lyzed.The efficacy of predictive factors was assessed using the receiver operating characteristic(ROC)curve.Results The positive rates of bacterial culture in samples from the skin swabbing fluid around the puncture site,the subcutaneous segment of the catheter,and the catheter tip were 22.0％,7.3％,and 8.7％,respectively.Staphylococcus epidermidis was the predominant colonizing bacterial species.Spearman correlation coefficient analysis showed a significant correlation between the results of bacterial culture from the skin around the puncture site and catheter tip colonization(r=0.47,P＜0.01).ROC curve analysis revealed that the area under the curve of bacterial culture results from the skin around the puncture site in predicting catheter tip bacterial colonization was 0.843,with a sensitivity of 84.9％and a specificity of 84.6％.Conclusion Bacterial migra-tion along the catheter is the main pathway for catheter tip bacterial colonization,and the results of bacterial culture from the skin around the puncture site are an effective predictive factor for the risk of bacterial colonization.

OBJECTIVE: To explore the clinical features of a child with Lamb-Shaffer syndrome (LAMSHF) due to a variant of SOX5 gene. METHODS: A child who was admitted to Children's Hospital Affiliated to Zhengzhou University in July 2022 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing (WES) was carried out on peripheral blood samples from the child and his parents, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The study has been approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-100). RESULTS: The child, an one-year-and-seven-month-old male, has manifested delayed development in speech and language, intelligence and movement, in addition with mild facial deformities and eye signs. Whole exome sequencing revealed that he has harbored a heterozygous c.1828_1829insGACT (p.Y610fs*1) frameshifting variant of the SOX5 gene. Sanger sequencing confirmed the variant to be de novo in origin. The variant was also unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_supporting). CONCLUSION The c.1828_1829insGACT (p.Y610fs*1) variant of the SOX5 gene probably underlay the pathogenesis of LAMSHF in this child. For children with delayed mental, language, intellectual, and motor development, genetic testing should be conducted to facilitate early diagnosis. Above finding has enriched the mutational spectrum of the SOX5 gene.
Humans ; SOXD Transcription Factors/genetics* ; Male ; Infant ; Exome Sequencing ; Genetic Testing ; Mutation

OBJECTIVE: To explore the clinical features, genetic characteristics in a child with Miller-McKusick-Malvaux syndrome (3MS) type 1 caused by CUL7 gene variant. METHODS: A child diagnosed with 3MS type 1 at the Children's Hospital Affiliated to Zhengzhou University in February 2021 was selected as the subject of this study. Peripheral blood samples were collected from the child and her parents for genomic DNA extraction. Whole exome sequencing (WES) was performed on the child, and Sanger sequencing was used to validate the candidate variants and analyze their pathogenicity. A literature search was conducted using the keywords "3M syndrome" in the China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, and PubMed databases from inception to December 2024. The clinical data of Chinese children with 3MS reported in the literature were summarized. This study was approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-020). RESULTS: The child was a 6-year-old and 2-month-old female with facial dysmorphism, skeletal abnormalities, and growth and developmental delay. WES revealed compound heterozygous variants in the CUL7 gene: c.2686G>T (p.E896*) and c.1200delT (p.R401Gfs66). Sanger sequencing confirmed that these two variants were inherited from the child's father and mother, respectively. According to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants, c.2686G>T (p.E896) was classified as a pathogenic (PVS1+PM2_Supporting+PM3), and c.1200delT (p.R401Gfs*66) was classified as a likely pathogenic (PVS1+PM2_Supporting). Based on the literature search strategy, 18 relevant articles were identified, including a total of 32 Chinese cases of 3MS, of which 8 were fetuses. A total of 32 Chinese 3MS cases were included in the literature review, of which 8 were fetuses. The majority of these cases carried variants in the CUL7 gene (20/32, 62.5%) and OBSL1 gene (12/32, 37.5%). The main clinical manifestations included intrauterine or postnatal growth and developmental delay (32/32, 100.0%), triangular facies (27/32, 84.3%), and skeletal abnormalities (21/32, 65.6%). CONCLUSION The compound heterozygous variants c.2686G>T (p.E896*) and c.1200delT (p.R401Gfs*66) in the CUL7 gene are likely the genetic cause of 3MS type 1 in the child. For children presenting with facial dysmorphism, skeletal abnormalities, and intrauterine or postnatal growth and developmental delay, 3MS should be considered as a differential diagnosis.
Humans ; Cullin Proteins/genetics* ; Female ; Child ; Limb Deformities, Congenital/genetics* ; Exome Sequencing ; Mutation ; Child, Preschool ; Dwarfism ; Muscle Hypotonia ; Spine/abnormalities*

BACKGROUND: Spicy food consumption has been reported to be inversely associated with mortality from multiple diseases. However, the effect of spicy food intake on the incidence of vascular diseases in the Chinese population remains unclear. This study was conducted to explore this association. METHODS: This study was performed using the large-scale China Kadoorie Biobank (CKB) prospective cohort of 486,335 participants. The primary outcomes were vascular disease, ischemic heart disease (IHD), major coronary events (MCEs), cerebrovascular disease, stroke, and non-stroke cerebrovascular disease. A Cox proportional hazards regression model was used to assess the association between spicy food consumption and incident vascular diseases. Subgroup analysis was also performed to evaluate the heterogeneity of the association between spicy food consumption and the risk of vascular disease stratified by several basic characteristics. In addition, the joint effects of spicy food consumption and the healthy lifestyle score on the risk of vascular disease were also evaluated, and sensitivity analyses were performed to assess the reliability of the association results. RESULTS: During a median follow-up time of 12.1 years, a total of 136,125 patients with vascular disease, 46,689 patients with IHD, 10,097 patients with MCEs, 80,114 patients with cerebrovascular disease, 56,726 patients with stroke, and 40,098 patients with non-stroke cerebrovascular disease were identified. Participants who consumed spicy food 1-2 days/week (hazard ratio [HR] = 0.95, 95% confidence interval [95% CI] = [0.93, 0.97], P <0.001), 3-5 days/week (HR = 0.96, 95% CI = [0.94, 0.99], P = 0.003), and 6-7 days/week (HR = 0.97, 95% CI = [0.95, 0.99], P = 0.002) had a significantly lower risk of vascular disease than those who consumed spicy food less than once a week ( Ptrend <0.001), especially in those who were younger and living in rural areas. Notably, the disease-based subgroup analysis indicated that the inverse associations remained in IHD ( Ptrend = 0.011) and MCEs ( Ptrend = 0.002) risk. Intriguingly, there was an interaction effect between spicy food consumption and the healthy lifestyle score on the risk of IHD ( Pinteraction = 0.037). CONCLUSIONS Our findings support an inverse association between spicy food consumption and vascular disease in the Chinese population, which may provide additional dietary guidance for the prevention of vascular diseases.
Humans ; Male ; Female ; Prospective Studies ; Middle Aged ; Aged ; Vascular Diseases/etiology* ; Risk Factors ; China/epidemiology* ; Adult ; Proportional Hazards Models ; Cerebrovascular Disorders/epidemiology* ; East Asian People

BACKGROUND: Whether adherence to a healthy lifestyle is associated with a lower risk of developing pneumonia and a better long-term prognosis remains unclear. This study aimed to investigate associations of individual and combined lifestyle factors (LFs) with the incidence risk and long-term prognosis of pneumonia hospitalization. METHODS: Using data from the China Kadoorie Biobank study, we used the multistate models to investigate the role of five high-risk LFs, including smoking, excessive alcohol drinking, unhealthy dietary habits, physical inactivity, and unhealthy body shape, alone or in combination in the transitions from a generally healthy state at baseline to pneumonia hospitalization or cardiovascular disease (CVD, regarded as a reference outcome), and subsequently to mortality. RESULTS: Most of the five high-risk LFs were associated with increased risks of transitions from baseline to pneumonia and from pneumonia to death, but with different risk estimates. The greater the number of high-risk LFs, the higher the risk of developing pneumonia and long-term mortality risk after pneumonia, with the strength of associations comparable to that of LFs and CVD. Compared to participants with 0-1 high-risk LF, the adjusted hazard ratios (HRs) and 95% confidence intervals (CIs) for transitions from baseline to pneumonia and from pneumonia to death in those with five high-risk LFs were 1.43 (1.28-1.60) and 1.98 (1.61-2.42), respectively. Correspondingly, the respective HRs (95% CIs) for transitions from baseline to CVD and from CVD to death were 2.00 (1.89-2.11) and 1.44 (1.30-1.59), respectively. The risk estimates changed slightly when further adjusting for the presence of major chronic diseases. CONCLUSION In this Chinese population, unhealthy LFs were associated with an increased incidence and long-term mortality risk of pneumonia.
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Cardiovascular Diseases/etiology* ; China/epidemiology* ; Life Style ; Pneumonia/etiology* ; Prognosis ; Risk Factors ; Smoking