AIM To investigate the protective effect of Sanfeng Tongqiao Dropping Pills against house dust mite(HDM)-induced allergic asthma in mice.METHODS Compared to the intact BALB/c mice in the blank control group,the BALB/c mice randomly assigned into the model group,the dexamethasone group(0.67 mg/kg),and the low-dose,medium-dose,and high-dose Sanfeng Tongqiao Dropping Pills groups(15,30 and 60 mg/kg),were induced into acute allergic asthma models via weekly intraperitoneal sensitization with 0.1 mL HDM solution(0.5 mg/mL)for three weeks followed by three consecutive daily intranasal challenges with 10 μL HDM solution(2.5 mg/mL)starting in the third week.The drug administered continuously 7 days after the last excitation.The mice had their airway reactive Penh value detected,their pulmonary pathological changes observed by HE staining,their blood eosinophils(EOS)counted,their Th2 cytokines in lung tissue and serum IgE levels detected by ELISA,and their number of peripheral blood mononuclear cells(PBMC)and pulmonary Th2 cells detected by flow cytometry.Chronic allergic asthma was induced in grouped BALB/c mice through repeated intranasal challenges with 10 μL HDM solution(2.5 mg/mL)administered five times weekly for five consecutive weeks.Drug treatment continued for 14 days following the final challenge.After the final treatment,the mice had their pulmonary pathological changes observed by HE staining,and their levels of Th2 cytokines in B ALF and lung tissue and serum IgE detected by ELISA.RESULTS Compared to the blank control group,the acute allergic asthma model group exhibited increases in Penh value,EOS count and IgE level in serum,IL-4 and IL-5 levels in lung tissue(P＜0.01);obvious pulmonary inflammatory cells infiltration,and thickened airway wall;and increase in pulmonary number of Th2 cells(P＜0.01).Compared to the model group,the groups intervened with Sanfeng Tongqiao Dropping Pills demonstrated decreased Penh value,serum EOS count,IgE level and IL-5 level in lung tissue(P＜0.05,P＜0.01);reduced pulmonary inflammatory infiltration and alleviated airway wall thickening;and decreased number of pulmonary Th2 cells.Compared to the blank group,the chronic allergic asthma model group showed obvious pulmonary inflammatory infiltration and airway wall thickening;and increased EOS count and IgE level in serum,IL-4 and IL-13 in lung tissue and IL-14 in BALF(P＜0.05,P＜0.01).Compared to the model group,the groups intervened with either medium-dose or high-dose Sanfeng Tongqiao Dropping Pills demonstrated reduced pulmonary inflammatory infiltration;and decreased serum EOS count,IgE level,IL-13 in lung tissue and IL-14 in BALF(P＜0.05,P＜0.01).CONCLUSION Sanfeng Tongqiao Dropping Pills reduce Th2 cells in peripheral blood and lung tissue,suppress type 2 inflammation,and thereby alleviate allergic asthma.

Widespread utilization of glyphosate has led to environmental residues,posing potential threats to ecological systems and human health.Traditional methods for detection of glyphosate are limited by specialized equipment and operational techniques,resulting in inefficient responses.Therefore,it is urgent to develop a convenient,sensitive and accurate detection method for detection of glyphosate.Herein,a new naphthalenesulfonamide-based"Turn-on"fluorescent probe was synthesized using 2-chloroaniline and dansyl chloride as raw materials through a one-step process,which showed a good linear relationship between the glyphosate concentration in concentration range of 0.003-70 μmol/L and the fluorescence intensity(R2=0.995),with a detection limit of 2.73 nmol/L(S/N=3).Analytical techniques such as nuclear magnetic resonance(NMR)spectroscopy and high-resolution mass spectrometry(HRMS)were used to investigate the interaction mechanism between the fluorescent probe and glyphosate.The results indicated that a nucleophilic substitution reaction occurred between the probe and the secondary amine(—NH—)of glyphosate,inducing a photoinduced electron transfer(PET)effect which enhanced the fluorescence intensity by 11.2 times.The probe showed good anti-interference ability towards coexisting metal ions,anions and pesticides in water.When applied to determination of glyphosate in the samples such as tap water,river water(Xiangxi River Reservoir),soil,soybeans,and corn,the spiking recoveries ranged from 94.7％to 109.9％,demonstrating the high accuracy and broad applicability of this detection method.A portable test strip based on this fluorescent probe was developed for rapid semi-quantitative analysis of glyphosate.The developed method was rapid,sensitive,and portable,providing theoretical and technical support for on-site measurement of environmental contaminants.

Objective:To investigate whether killer immunoglobulin-like receptor(KIR)genotypes and haplotype are associated with the dry eye disease(DED)in a Chinese Han population.Methods:Polymerase chain reaction with sequence-specific primers(PCR-SSP)method was used to genotype KIR genes in 106 DED patients and 220 healthy controls.Results:A total of 23 KIR geno-types were found in DED patients and healthy controls,including 10 newly discovered KIR genotypes.The genotype G and haplotype 4 were associated with respectively increased risk of DED(P=0.025,P=0.004);while the haplotype 2 appeared to have an inverse asso-ciation with the disease(P=0.016).The frequency of KIR genotype B/B in DED patients was also significantly higher than that in con-trol group(P=0.027).KIR haplotype A and B had distinctive centromeric(Cen)and telomeric(Tel)gene-content motifs,and the Cen-B/B was associated with increased risk of DED(P=0.037).Conclusion:There may be an association between KIR genotype and hap-loid type with DED in Han population.

Creutzfeldt-Jakob disease(CJD)is a rapidly progressive and fatal neurodegenerative disorder caused by prions,with certain infectivity and iatrogenic transmission risks.With the rapid progress and application of new dia-gnostic biomarkers and detection methods,as well as the construction and improvement of surveillance and reporting systems,the detection of CJD in patients domestically and internationally has shown an increasing trend year by year.Due to its long incubation period and heterogeneity of early symptoms,early identification and diagnosis of the disease is difficult,increasing the risk of transmission within medical institutions.Currently,there is a lack of con-sensus on the infection prevention and control of CJD.In order to timely identify and diagnose CJD as well as effec-tively block its transmission in medical institutions,this consensus summarizes 15 clinical concerns and formulates 24 specific recommendations based on the latest domestic and international research findings and clinical evidence,as well as combines with clinical practice,aiming to standardize healthcare-associated infection prevention and control measures for CJD and reduce its transmission risk in medical institutions.

Objective:To summarize the clinical and genetic characteristics of pseudoachondroplasia and multiple epiphyseal dysplasia caused by COMP gene variants in pediatric patients.Methods:This retrospective study concluded 15 pediatric patients with COMP-related pseudoachondroplasia and multiple epiphyseal dysplasia at Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine from July 2013 to August 2024. This paper analyzed clinical manifestations, laboratory findings and genetic testing.Results:This cohort comprised 15 pediatric patients (8 males and 7 females) with a diagnostic age of 5.3 (1.8,9.3) years. The major clinical presentations included abnormal gait (15/15), brachydactyly (11/15), genu varum (12/15), irregular metaphyseal changes (14/14) and epiphyseal dysplasia (14/14). Genetic analysis revealed 13 cases of pseudoachondroplasia and 2 multiple epiphyseal dysplasias cases associated with COMP gene variants. Fifteen variants were identified (8 pathogenic and 7 likely pathogenic), including 2 novel variants (c.1223A>G, c.1378G>C). Thirteen of these patients had variations clustered in exons 8-14 encoding the calmodulin-like domains, with c.1414_1419dupGACGAC emerging as a hotspot variant.Conclusions:COMP-related pseudoachondroplasia and multiple epiphyseal dysplasia predominantly manifest with gait abnormalities and skeletal deformities. COMP gene pathogenic variations were mainly located in calmodulin-like domains.

Objective:To compare the cardiac size，morphology，and function between anemic and normal fetuses using a hybrid artificial intelligence（AI）model，and to evaluate the utility of AI in quantitatively assessing fetal cardiac function in cases of anemia.Methods:A retrospective study was conducted by collecting data from 2018 to 2024 at the Seventh Affiliated Hospital of Sun Yat-sen University，including 15 cases of anemic fetuses（anemia group）diagnosed through umbilical venous puncture and 32 cases of normal fetuses（control group）. Four-chamber fetal cardiac ultrasound videos and left/right ventricular segments were included，with 44 videos and 1 056 segments in the anemia group，and 46 videos and 1 104 segments in the control group. Based on dynamic four-chamber heart images，the hybrid AI model was employed to extract heart measurement parameters，including basal-apical length（BAL），transverse width（TW），global sphericity index（GSI），end-diastolic area（EDA），24-segment left and right ventricular end-diastolic diameter（LVEDD，RVEDD），segmental sphericity index（LVSI，RVSI），global longitudinal strain（LVGLS，RVGLS），fractional area change（LVFAC，RVFAC），segmental fractional shortening（LVFS，RVFS），along with their corresponding Z-scores. The differences in cardiac size，morphology，and function parameters between the two groups were compared. Pearson correlation analysis was performed for the parameters of the control group（BAL，TW，EDA，GLS，LVGLS，RVGLS，LVFAC，and RVFAC）against gestational age. The measurement consistencies of AI technology and fetal HQ technology in normal and anemia groups were evaluated.Results:No significant differences were found in BAL，TW，EDA，or GSI between groups（all P>0.05）. RVEDD in segments 3-24 was significantly larger in the anemia group（all P<0.05），with significantly higher Z-score abnormality rates for LVEDD and RVEDD across 24 segments（both P<0.001）. LVSI in segments 7-10，12，14-15 and RVSI in segments 1-23 were lower in the anemia group（all P<0.05），with significantly higher Z-score abnormality rates for LVSI and RVSI across 24 segments（both P<0.001）. The absolute values of LVGLS and LVFAC were significantly reduced in the anemia group（both P<0.05），while the absolute values of RVGLS and RVFAC showed no significant differences（both P>0.05）. Segmental LVFS values were significantly lower in the anemia group for segments 2，5-8，11-13（all P<0.05）. In the control group，BAL，TW，and EDA positively correlated with gestational age（ r=0.913，0.947，0.907；all P<0.001），while GSI，LVGLS，RVGLS，LVFAC and RVFAC showed no or weak correlations（ r=-0.221，0.353，0.515，-0.409，-0.425）. The intraclass correlation coefficient（ICC）between AI-based and conventional fetal HQ evaluations were 0.788 for the control group and 0.837 for the anemia group，indicating good consistency. Conclusions:AI offers a reliable approach for quantitatively evaluating fetal cardiac size，shape，and systolic function. Fetal anemia primarily affects right ventricular morphology and left ventricular systolic performance，characterized by spherical remodeling of the right ventricle and reductions in LVGLS，LVFAC，and segmental LVFS. The hybrid AI model holds potential value in fetal cardiac function assessment.

[Objective]To analyze the clinical characteristics,efficacy of growth hormone(GH)therapy,and follow-up of a child with Rauch-Steindl syndrome(RAUST)caused by NSD2 gene mutation,aiming to enhance pediatricians'understanding of this disorder.[Methods]We summarized the clinical features,gene test results,outcomes of GH therapy,and follow-up data of a child with RAUST syndrome caused by NSD2 mutation admitted to the Pediatric Endocrinology Department of Sun Yat-sen Memorial Hospital in April 2017,and then conducted a comparative analysis with relevant literature.[Results]The 2.9-year-old boy at initial visit was born prematurely at 36 weeks of gestation,with a birth weight of 1.7 kg and a body length of 42.0 cm.Clinical manifestations included intrauterine growth retardation,delayed language and motor development,extreme short stature(82.0 cm,-3.7 SD),emaciation,and distinctive facial features(triangular face,narrow jaw,prominent forehead,arched eyebrows,sparse eyebrows,high anterior hairline,crowded dentition),accompanied by bilateral cryptorchidism.Bone age was delayed by 1.4 years.Karyotyping and chromosomal microarray analysis were normal.GH therapy initiated at 3.8 years old yielded annual growth rates of 4.9-6.6 cm/year.When the treatment was discontinued at the age of 8.0,the boy's height was 113.7 cm(-3.0 SD),with subsequent decline in growth velocity.Whole exome sequencing in July 2024 identified a frameshift variant c.4028del(p.Pro1343Glnfs*49)in NSD2,which was confirmed as de novo pathogenic variation by parental Sanger sequencing.[Conclusions]This study reports the clinical features of RAUST syndrome caused by NSD2 mutation and explores the long-term efficacy of GH therapy.The findings contribute to a better understanding of this rare syndrome and further optimize its diagnosis and management.

AIM To investigate the protective effect of Sanfeng Tongqiao Dropping Pills against house dust mite(HDM)-induced allergic asthma in mice.METHODS Compared to the intact BALB/c mice in the blank control group,the BALB/c mice randomly assigned into the model group,the dexamethasone group(0.67 mg/kg),and the low-dose,medium-dose,and high-dose Sanfeng Tongqiao Dropping Pills groups(15,30 and 60 mg/kg),were induced into acute allergic asthma models via weekly intraperitoneal sensitization with 0.1 mL HDM solution(0.5 mg/mL)for three weeks followed by three consecutive daily intranasal challenges with 10 μL HDM solution(2.5 mg/mL)starting in the third week.The drug administered continuously 7 days after the last excitation.The mice had their airway reactive Penh value detected,their pulmonary pathological changes observed by HE staining,their blood eosinophils(EOS)counted,their Th2 cytokines in lung tissue and serum IgE levels detected by ELISA,and their number of peripheral blood mononuclear cells(PBMC)and pulmonary Th2 cells detected by flow cytometry.Chronic allergic asthma was induced in grouped BALB/c mice through repeated intranasal challenges with 10 μL HDM solution(2.5 mg/mL)administered five times weekly for five consecutive weeks.Drug treatment continued for 14 days following the final challenge.After the final treatment,the mice had their pulmonary pathological changes observed by HE staining,and their levels of Th2 cytokines in B ALF and lung tissue and serum IgE detected by ELISA.RESULTS Compared to the blank control group,the acute allergic asthma model group exhibited increases in Penh value,EOS count and IgE level in serum,IL-4 and IL-5 levels in lung tissue(P＜0.01);obvious pulmonary inflammatory cells infiltration,and thickened airway wall;and increase in pulmonary number of Th2 cells(P＜0.01).Compared to the model group,the groups intervened with Sanfeng Tongqiao Dropping Pills demonstrated decreased Penh value,serum EOS count,IgE level and IL-5 level in lung tissue(P＜0.05,P＜0.01);reduced pulmonary inflammatory infiltration and alleviated airway wall thickening;and decreased number of pulmonary Th2 cells.Compared to the blank group,the chronic allergic asthma model group showed obvious pulmonary inflammatory infiltration and airway wall thickening;and increased EOS count and IgE level in serum,IL-4 and IL-13 in lung tissue and IL-14 in BALF(P＜0.05,P＜0.01).Compared to the model group,the groups intervened with either medium-dose or high-dose Sanfeng Tongqiao Dropping Pills demonstrated reduced pulmonary inflammatory infiltration;and decreased serum EOS count,IgE level,IL-13 in lung tissue and IL-14 in BALF(P＜0.05,P＜0.01).CONCLUSION Sanfeng Tongqiao Dropping Pills reduce Th2 cells in peripheral blood and lung tissue,suppress type 2 inflammation,and thereby alleviate allergic asthma.

Constipation is a common functional gastrointestinal disorder with a global prevalence of approximately 10％to 20％.Its causes include functional disorders,organic diseases,and drug factors,with the majority being functional constipation.In recent years,driven by advancements in biomedicine,artificial intelligence(AI),and microbiome research,significant progress has been made in the diagnosis and treatment of constipation.This review systematically explores the latest developments in constipation treatment,including the role of the gut microbiota in constipation,the metabolic regulatory effects of short-chain fatty acids(SCFAs),the impact of mental factors on intestinal motility.Additionally,it discusses future development directions such as AI-assisted diagnosis,AI-based consultation systems,personalized microbiota transplantation,and minimally invasive neuromodulation,providing new insights for precision medicine in constipation.

Objective:To establish a TaqMan-MGB probe-based method for detecting the polymorphic loci C677T and A1298C of the MTHFR gene.Methods:Specific primers and TaqMan-MGB probes targeting the C677T and A1298C polymorphic loci of the MTHFR gene were designed and optimized based on the gene sequence information.A real-time quantitative PCR detection system was established.Gradient dilution experiments were conducted to determine the limit of detection,and reproducibility experiments were performed to evaluate detection consistency.Specificity was validated using wild-type and mutant plasmid templates.The method was applied to detect 56 clinical samples,and its accuracy and practicality were assessed through comparison with traditional Sanger sequencing.Results:The TaqMan-MGB probe method demonstrated high specificity for detecting the C677T and A1298C loci,with no cross-reactivity between wild-type and mutant probes,enabling accurate genotype differentiation.Sensitivity experiments revealed detection limits of 1.13 × 103 copies/μL for C677T and 8.39 × 101 copies/μL for A1298C.Reproducibility experiments showed coefficients of variation below 1％,indicating stable and reliable results.Among the 56 clinical samples,the overall detection rate for the C677T locus was 86.99％,and for the A1298C locus,it was 97.92％.The TaqMan-MGB method exhibited good concordance with Sanger sequencing results.Conclusion:The TaqMan-MGB method exhibits high specificity,sensitivity,and excellent reproducibility in detecting the polymorphic loci C677T and A1298C of the MTHFR gene,making it suitable for rapid detection in large-scale clinical samples.This method provides an effective molecular diagnostic tool for the early diagnosis and prevention of folate-related diseases.