Jansen-de Vries syndrome, also known as intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, is a rare autosomal dominant disorder characterized by multisystem involvement. This article reports the case of a young child who presented with global developmental delay, gastrointestinal dysfunction, intellectual disability, and short stature. Distinct facial features included a broad forehead, low nasal bridge, thin upper lip, and widely spaced and misaligned teeth. Additional phenotypic findings involved small hands and feet, as well as digital anomalies. Through whole-exome sequencing (WES) and copy number variation (CNV) analysis, a pathogenic variant was identified in the PPM1D gene: c.1281G > A (p.Trp427Ter). This report also reviews the current literature on the clinical characteristics, diagnostic approaches, and therapeutic advances related to this condition, aiming to provide valuable insights for its clinical diagnosis and management.

Objective: To investigate the prevalence of Dengue virus (DENV) infection among voluntary blood donors in Xishuangbanna Dai Autonomous Prefecture, and to evaluate the necessity of implementing nucleic acid testing (NAT) for blood donors during the rainy season (May-October). Methods: Prior to initiating donor screening, the Xishuangbanna Central Blood Center conducted in-house validation of reagent performance and participated in external quality assessment (EQA) organized by the National Center for Clinical Laboratories (NCCL). During the surveillance period (August-October 2024), a total of 2 919 donor samples were screened using a 6-sample mini-pool NAT strategy. Daily internal quality controls were recorded. Samples that tested positive in pooled screening were deconvoluted and retested in duplicate; only those reactive in both replicate wells were sent to the NCCL for confirmatory testing. At NCCL, samples underwent re-testing using five domestic NAT reagents, as well as serological assays for NS1 antigen and DENV-specific IgG/IgM. Confirmed positive samples were further characterized by serotyping, envelope (E) gene sequencing, and phylogenetic analysis using the maximum likelihood method. Results: The DENV NAT reagent demonstrated consistent detection of 40 copies/mL controls in individual donor (ID)-NAT test (mean CT: 35.61±0.40). During the 63-day quality control monitoring, DENV detection remained stable (mean CT: 22.53±0.72). The center achieved full marks in EQA assessments for 2023 and 2024. Three reactive pools were identified in initial screening, and subsequent individual testing confirmed three DENV RNA-positive donors (sample numbers: 2401, 2402, and 2403). The confirmatory test results from NCCL were: all five NAT platforms consistently detected DENV RNA in the three samples; for serological tests, 2 samples (2402, 2403) were positive for NS1 antigen, while all three samples were negative for both IgG and IgM antibodies. DENV serotyping reagents identified DENV-2 in all cases, which were further confirmed as DENV-2 Genotype Ⅱ-Cosmopolitan by E gene sequencing. Phylogenetic analysis indicated that samples 2401 and 2402 clustered with Southeast Asian strains (Thailand/MZ636802.1, Laos/PQ775621.1), while sample 2403 closely matched a previously reported local Yunnan strain (PV544686.1). Conclusion: DENV-2 infection was detected among blood donors in Xishuangbanna during the rainy season, indicating concurrent risks of imported and local transmission. We recommend implementing pooled NAT screening for blood donors in high-risk areas during dengue epidemic seasons, along with strengthened laboratory quality control, to enhance blood safety.

Objective To investigate the potential mechanism by which dihydromyricetin(DHM)ameliorates diabetic nephropathy(DN),and to screen and validate its possible key molecular targets.Methods A DN model was established using db/db mice,and 100 mg/(kg·d)DHM was administered via gavage 5 d per week for totally 10 weeks.Renal morphological changes were observed after staining to evaluate the effects of DHM.GSE161885 and GSE270526 datasets were obtained from the Gene Expression Omnibus(GEO)database and analyzed in combination with the GeneCards database to screen for DN-related differentially expressed genes(DEGs).Protein-protein interaction(PPI)network and molecular docking were employed to predict potential DHM targets.Western blotting and immunofluorescence staining were performed to detect the effects of DHM on pyroptosis-related pathways in the renal tissues of db/db mice and in high glucose(HG)-induced human renal tubular epithelial cells(HK-2).The specific NLR family pyrin domain containing protein 3(NLRP3)inhibitor MCC950 was also used to validate the predicted mechanism.Results In vivo experiments showed that DHM significantly ameliorated renal pathological damage in db/db mice,alleviated glomerular hypertrophy and mesangial expansion,and markedly reduced Paller scores(P<0.001).Immunofluorescence staining revealed significantly weakened fluorescence signals for α-smooth muscle actin(α-SMA),fibronectin,and collagen Ⅰ in renal tissues.Western blot results showed that the expression levels of collagen Ⅰ,collagen Ⅲ,α-SMA,and transforming growth factor beta 1(TGF-β1)were significantly decreased(P<0.05).A total of 16 DN-related DEGs were identified.Enrichment analysis revealed that these genes were primarily enriched in pathways such as viral protein interactions,cytokine-cytokine receptor interaction,and the AGE-RAGE signaling pathway in diabetic complications,and were primarily involved in gene functions such as the positive regulation of lymphocyte-mediated immunity,positive regulation of adaptive immune response,and chemokine activity.Molecular docking confirmed NLRP3 as a potential target of DHM.In vivo validation showed that DHM significantly down-regulated gasdermin-D(GSDMD)fluorescence signals and inhibited the expression of pyroptosis-related proteins including NLRP3,Caspase 1,Cleaved-Caspase 1,interleukin 18(IL-18),and GSDMD(P<0.05).In vitro studies further confirmed that both DHM and the specific NLRP3 inhibitor MCC950 alleviate high glucose-induced fibrosis and pyroptosis in HIC-2 cells.Conclusion DHM can ameliorate the progression of DN,and its mechanism is related to inhibiting NLRP3 inflammasome-mediated pyroptosis,thereby alleviating renal inflammation and fibrosis.

Linxian County in Henan Province, Northern China is known as the region with the highest incidence and mortality rate of esophageal cancer worldwide. Since 1959, the Henan medical team has conducted field work on esophageal cancer prevention and treatment in Linxian. Through three generations of effort exerted by oncologists over 65 years of research on esophageal cancer prevention and treatment in Linxian, the incidence rate of esophageal squamous cell carcinoma in this area has dropped by nearly 50%, and the 5-year survival rate has increased to 40%, reaching the international leading level. This article aims to summarize the history, present opportunities and new challenges, and explore the experience of esophageal cancer prevention and treatment in Linxian (referred to as the “Linxian experience”), providing reference and guidance to cancer prevention and treatment research in China.

Objective:To explore the relationship between 23S rRNA domain V locus mutations in mycoplasma pneumoniae (MP) and the clinical characteristics plus macrolide resistance in pediatric MP pneumonia.Methods:A retrospective analysis was conducted on 220 children with MP pneumonia admitted to the Xi′an Central Hospital from January 2021 to June 2024. Patients were divided into a mutation group and a non-mutation group according to the presence or absence of point mutations at positions 2063, 2064, 2067 and 2617 within the 23S rRNA domain V. General data, clinical features [disease course, fever duration, length of hospital stay, time to resolution of chest X-ray infiltrates, pleural effusion, pulmonary parenchymal lesions, white blood cell count (WBC), lactate dehydrogenase (LDH), MP-DNA load] and macrolide resistance were compared between the two groups.Results:Among the 220 enrolled patients, 114 were assigned to the mutation group and 106 to the non-mutation group. Mutations detected in the 23S rRNA domain V were A2063 ( n=107), C2617 ( n=2), A2064 ( n=2) and A2067 ( n=0); three patients had combined A2063+ A2064 mutations. The proportion of severe pneumonia was higher in the mutation group ( P<0.05). Compared with the non-mutation group, the mutation group exhibited longer disease course, fever duration, hospital stay and time to resolution of chest X-ray infiltrates; higher rates of pleural effusion; and higher LDH levels and MP-DNA loads (all P<0.05). Both groups showed the highest resistance to first-generation macrolides (erythromycin, erythromycin ethylsuccinate, erythromycin stearate) and the highest sensitivity to third-generation macrolides (telithromycin, josamycin). Resistance rates to first-and second-generation macrolides were significantly higher in the mutation group (all P<0.05). Conclusions:Mutations in the 23S rRNA domain V of MP are closely associated with clinical severity in pediatric MP pneumonia, and patients harboring these mutations display higher rates of macrolide resistance.

Objective To investigate the correlation between serum amyloid A(SAA)level and disease se-verity in children infected with severe acute respiratory syndrome coronavirus 2(COVID-19).Methods A to-tal of 116 children infected with COVID-19 admitted to the Department of Pediatrics of the hospital from De-cember 2022 to April 2023 were included and divided into asymptomatic/mild group and moderate/severe group according to the severity of the disease.In addition,65 healthy children who received health examination during the same period were selected as the control group.Serum SAA levels in children in acute stage and convalescent stage were detected by enzyme-linked immunosorbent assay.Results Compared with the control group,the serum SAA level in the children infected with COVID-19 was significantly increased in the acute stage(P＜0.05).The area under the receiver operating characteristic(ROC)curve(AUC)of SAA levels in the acute stage for diagnosing children with COVID-19 infection was 0.926(95％CI:0.886-0.966).In SARS-CoV-2 infected children,the SAA levels in the acute stage in the asymptomatic/mild group and the moderate/severe group were 2.71(1.29-10.86)mg/L and 37.78(18.58-92.62)mg/L,the differences were statistically significant between the two groups(Z=5.782,P＜0.001).In addition,serum SAA was pos-itively correlated with severity of SARS-CoV-2 by Spearman analysis(r=0.657,P＜0.001).Serum SAA lev-els were also significantly positively correlated with C-reactive protein(CRP),immunoglobulin(Ig)M,IgG,IgA and neutralizing antibody(NAb)in acute stage(P＜0.05).The AUC of serum SAA level in acute stage for diagnosing the moderate/severe children with SARS-CoV-2 was 0.889(95％CI:0.842-0.955),which was higher than that of CRP(P＜0.05).Compared with serum antibodies(IgM,IgG,IgA and NAb),the rate of serum SAA positive(≥5.55 mg/L)in children in acute stage was significantly higher(P＜0.05).The positive rate of serum SAA in convalescent children was significantly lower than that of serum antibody(P＜0.05).Conclusion Elevated serum SAA in acute phase is associated with increased risk of SARS-CoV-2 infec-tion and disease severity in children.Serum SAA is promising as a good biomarker for monitoring SARS-CoV-2 infection and severity in children.

Objective To investigate the impact of new-onset atrial fibrillation(AF)on all-cause mortality in elderly patients with hypertension having no previous history of AF.Methods A retrospective study was conducted on 1352 elderly hypertensive inpatients who had no history of AF and received long-term follow-up in Chinese PLA General Hospital from January 2014 to June 2017.According to having newly developed AF or not,they were divided into a new-set AF group(191 cases)and a control group(1161 cases).Kaplan-Meier survival curve was plotted for survival analysis and multivariate Cox survival analysis was performed to identify risk factors for all-cause mortality.Results Compared with the control group,the new-onset AF group exhibited significantly advanced age,higher urea level,lower diabetes ratio,and decreased hemoglobin level(P＜0.05,P＜0.01).Kaplan-Meier survival curve analysis showed that the cumulative mortality of the new-onset AF group was significantly higher than that of the control group(P＜0.01).Multivariate Cox regression analysis revealed that age＞75 years(HR=4.562,95％CI:3.104-6.705,P＜0.01),anemia(HR=2.543,95％CI:1.939-3.334,P＜0.01),new-onset AF(HR=1.494,95％CI:1.185-1.884,P＜0.01),eGFR＜60 mL/(min·1.73 m2)(HR=1.729,95％CI:1.389-2.151,P＜0.01),and heart failure(HR=1.539,95％CI:1.173-2.019,P＜0.01)were risk factors for all-cause mortality in elderly hypertensive patients without a history of AF.Conclusions New-onset AF is closely associated with an increased risk of all-cause mortality in elderly hypertensive patients without a previous history of AF.

Objective To investigate the impact of new-onset atrial fibrillation(AF)on all-cause mortality in elderly patients with hypertension having no previous history of AF.Methods A retrospective study was conducted on 1352 elderly hypertensive inpatients who had no history of AF and received long-term follow-up in Chinese PLA General Hospital from January 2014 to June 2017.According to having newly developed AF or not,they were divided into a new-set AF group(191 cases)and a control group(1161 cases).Kaplan-Meier survival curve was plotted for survival analysis and multivariate Cox survival analysis was performed to identify risk factors for all-cause mortality.Results Compared with the control group,the new-onset AF group exhibited significantly advanced age,higher urea level,lower diabetes ratio,and decreased hemoglobin level(P＜0.05,P＜0.01).Kaplan-Meier survival curve analysis showed that the cumulative mortality of the new-onset AF group was significantly higher than that of the control group(P＜0.01).Multivariate Cox regression analysis revealed that age＞75 years(HR=4.562,95％CI:3.104-6.705,P＜0.01),anemia(HR=2.543,95％CI:1.939-3.334,P＜0.01),new-onset AF(HR=1.494,95％CI:1.185-1.884,P＜0.01),eGFR＜60 mL/(min·1.73 m2)(HR=1.729,95％CI:1.389-2.151,P＜0.01),and heart failure(HR=1.539,95％CI:1.173-2.019,P＜0.01)were risk factors for all-cause mortality in elderly hypertensive patients without a history of AF.Conclusions New-onset AF is closely associated with an increased risk of all-cause mortality in elderly hypertensive patients without a previous history of AF.

Objective:To explore the relationship between 23S rRNA domain V locus mutations in mycoplasma pneumoniae (MP) and the clinical characteristics plus macrolide resistance in pediatric MP pneumonia.Methods:A retrospective analysis was conducted on 220 children with MP pneumonia admitted to the Xi′an Central Hospital from January 2021 to June 2024. Patients were divided into a mutation group and a non-mutation group according to the presence or absence of point mutations at positions 2063, 2064, 2067 and 2617 within the 23S rRNA domain V. General data, clinical features [disease course, fever duration, length of hospital stay, time to resolution of chest X-ray infiltrates, pleural effusion, pulmonary parenchymal lesions, white blood cell count (WBC), lactate dehydrogenase (LDH), MP-DNA load] and macrolide resistance were compared between the two groups.Results:Among the 220 enrolled patients, 114 were assigned to the mutation group and 106 to the non-mutation group. Mutations detected in the 23S rRNA domain V were A2063 ( n=107), C2617 ( n=2), A2064 ( n=2) and A2067 ( n=0); three patients had combined A2063+ A2064 mutations. The proportion of severe pneumonia was higher in the mutation group ( P<0.05). Compared with the non-mutation group, the mutation group exhibited longer disease course, fever duration, hospital stay and time to resolution of chest X-ray infiltrates; higher rates of pleural effusion; and higher LDH levels and MP-DNA loads (all P<0.05). Both groups showed the highest resistance to first-generation macrolides (erythromycin, erythromycin ethylsuccinate, erythromycin stearate) and the highest sensitivity to third-generation macrolides (telithromycin, josamycin). Resistance rates to first-and second-generation macrolides were significantly higher in the mutation group (all P<0.05). Conclusions:Mutations in the 23S rRNA domain V of MP are closely associated with clinical severity in pediatric MP pneumonia, and patients harboring these mutations display higher rates of macrolide resistance.

To analyze the correlation of ADH4 exon rs1126671 and ADH7 exon rs971074 polymorphisms with risky drinking behaviors and alcoholic liver disease. The patients with alcoholic liver disease diagnosed in the Gastroenterology Department of the People′s Hospital of Hechi from November 2021 to June 2022, including 52 cases of alcoholic liver disease with positive risky drinking behaviors, 103 cases of non-alcoholic liver disease with positive risky drinking behaviors of the same gender and age, and 105 healthy subjects with no risky drinking behaviors as control groups were retrospectively analyzed. The serum total protein and albumin are detected by immunoturbidimetry and globulin is calculated by the difference method; the serum total bilirubin and direct bilirubin are detected by the nitrite oxidation method and indirect bilirubin is calculated by the difference method; alkaline phosphatase, aspartate aminotransferase, alanine aminotransferase and γ-glutamyl transferase are detected by the substrate method. The results revealed that all 52 patients with alcoholic liver disease were male. The non-parametric independent sample Kruskal-Wallis test was adopted to analyze the baseline of twelve liver functions among the alcoholic liver disease group, the risky drinking behavior group and the healthy control group, and it was found there was statistical significance in ten major liver function indicators in the difference comparison among the three groups like serum total protein (g/L) 65.0 (60.1, 71.4), 73.4 (70.3, 76.3), 72.4 (69.2, 76.2) ( H=37.130, P<0.001); albumin (g/L) 36.1 (28.6, 42.9), 47.2 (45.0, 49.2), 47.5 (45.9, 49.5) ( H=14.503, P=0.001); direct bilirubin (μmol/L) 10.1 (35.6, 34.0.1), 3.8 (3.1, 5.45), 4.2 (2.9, 6.0) ( H=26.608, P<0.001); alkaline phosphatase (U/L) 106.0 (71.0, 164.0), 68.0 (57.5, 82.0), 70.0 (59.0, 87.0) ( H=27.904, P<0.001); albumin to globulin 1.34 (0.91, 1.88), 1.82 (1.65, 2.00), 1.89 (1.68, 2.07) ( H=11.047, P=0.004); direct bilirubin to indirect bilirubin 0.91 (0.69, 1.91), 0.41 (0.35, 0.54), 0.42 (0.34, 0.54) ( H=19.478, P<0.001); serum total bilirubin (μmol/L) 23.9 (13.7, 51.0), 13.8 (10.2, 17.9), 13.0 (10.1, 17.4) ( H=18.375, P<0.001); aspartate aminotransferase (U/L) 74.0 (39.0, 122.0), 22.0 (19.0, 28.0), 23.0 (19.0, 30.0) ( H=76.365, P<0.001); alanine aminotransferase (U/L) 37.0 (25.0, 55.0), 23.0 (17.0, 30.0), 24.0 (17.0, 33.8) ( H=57.041, P<0.001); γ-glutamyl transferase (U/L) 135.0 (45.0, 364.0), 33.0 (23.5, 49.5), 32.0 (19.0, 49.0) ( H=82.558, P<0.001); however, there were no statistical significance in the pairwise comparisons between risky drinking and healthy groups. The two loci of ADH4 and ADH7 were in genetic linkage equilibrium. In the three groups of samples, the ADH4 gene rs1126671 locus was comprised primarily of the CC homozygous genotype, and there was no TT genotype. The ADH7 gene rs971074 genotype had statistical difference in the comparison of the three groups ( χ2=9.370, P<0.05). Compared with the CC genotype, the CT genotype had no statistical difference in the pairwise comparison between the risky drinking behavior group and alcoholic liver disease group, and the healthy group and alcoholic liver disease group. There was a statistical difference in that between the healthy group and the risky drinking behavior group ( χ2=6.372, P=0.012). The analysis display of mode of inheritance between RD group and HA group was statistically significant in the difference of the superdominance inheritance mode ( OR=2.92, 95% CI:1.22-6.98; P=0.012), the dominant inheritance mode ( OR=2.90, 95% CI:1.26-6.64; P=0.008), the co-dominant inheritance mode ( OR=2.96, 95% CI:1.24-7.08; P=0.032) and the additive mode ( OR=2.46, 95% CI:1.16-5.22; P=0.013). In general, the CT genotype of ADH7 gene rs971074 is a risk factor for positive risky drinking behavior, and the ADH family may still increase the susceptibility of people with a potential alcoholic liver disease protection background through the correlation between ADH7 and risky drinking behavior.