Objective:To analyze the efficacy of enzyme replacement therapy and anti-drug antibody production in children with Fabry disease.Methods:The clinical data of 7 children with Fabry disease treated with enzyme replacement therapy for more than 1 year at Children′s Hospital of Zhejiang University School of Medicine from July 2021 to June 2024 were retrospectively analyzed. The basic information and the changes of related clinical indicators before and after treatment were collected. Paired sample t test was used to compare renal function, left heart mass index, pain score and other related indexes before and after treatment. The anti-drug antibodies were detected by enzyme-linked immunosorbent assay. Results:A total of 6 boys and 1 girl were included. The age of diagnosis was (12.2±1.8) years. After 1 year of enzyme replacement therapy, the abnormal substrate globotriaosylsphingosine and brief pain inventory scores of all children were significantly lower than those before treatment ((16±11) vs. (63±42) μg/L, 22±19 vs. 45±29, t=3.88, 3.43, both P<0.05). There were no significant differences in glomerular filtration rate, urinary microalbumin to creatinine and left heart mass index before and after treatment ((124±35) vs. (136±26) ml/(min·1.73 m 2), (9.3±8.3) vs. (3.8±2.5) mg/g, (38±9) vs. (33±6) g/m 2.7, t=1.33, 1.74, 1.19, all P>0.05). Patients 4, 5 and 6 developed anti-drug antibodies at 1 month, 4 months and 1 month after medication, respectively. Patient 4 had persistently high anti-drug antibody titers (absorbance 3.65-3.73) accompanied by urticaria, elevated globotriaosylsphingosine and worsening clinical symptoms. Conclusions:The enzyme replacement therapy can effectively improve the clinical symptoms and reduce the level of globotriaosylsphingosine in children with Fabry disease. The anti-drug antibody is common in patients after long-term enzyme replacement therapy and may diminish the efficacy, which needs dynamic monitoring.

ObjectiveTo establish a geographical origin identification model for Foeniculi Fructus from Haiyuan， providing a new technical reference for the protection of Haiyuan's geo-authentic medicinal materials and its designation as a national geographical indication agricultural product. MethodsSamples of Foeniculi Fructus were collected from eight producing areas， including Minqin （Gansu）， Bozhou （Anhui）， Qingdao （Shandong）， Dezhou （Shandong）， Urumqi （Xinjiang）， Nujiang （Yunnan）， Gutuo （Inner Mongolia）， and Haiyuan （Ningxia）. Gas chromatography-ion mobility spectrometry （GC-IMS） was used to detect the volatile organic compounds （VOCs） in samples from these geographic origins. VOCs were qualitatively analyzed through dual matching with the National Institute of Standards and Technology （NIST） mass spectral database and the IMS drift time database. Using the Reporter module and Gallery Plot visualization tools within the LAV analytical platform， VOC fingerprint profiles characterizing geographic origins were constructed. A non-targeted analytical strategy was adopted， and 97 VOCs detected via GC-IMS were subjected to principal component analysis （PCA） and partial least squares discriminant analysis （PLS-DA） based on their differential distribution patterns to construct an origin identification model for Foeniculi Fructus from Haiyuan region. Key discriminative markers were screened using variable importance in projection （VIP） values greater than 1. ResultsA total of 97 VOCs were identified， including alcohols， aldehydes， ketones， esters， organic acids， terpenoids， ethers， alkenes， and benzenes. The PLS-DA model， based on VOCs data obtained by GC-IMS， effectively distinguished Foeniculi Fructus in Haiyuan region from those of other origins. During cross-validation， the model achieved a prediction parameter （Q²） of 0.976 and a goodness-of-fit parameter （R²） of 0.936， with no overfitting observed in permutation testing. Twelve key flavor markers with VIP > 1 were identified as characteristic indicators of Haiyuan origin. ConclusionA stable and highly predictive origin identification model for Foeniculi Fructus from Haiyuan was successfully established using GC-IMS technology， PLS-DA， and VIP-based marker screening. This model provides a novel technical strategy for accurately distinguishing Foeniculi Fructus in Haiyuan region from other regional varieties and offers new technical support for its protection as a geo-authentic medicinal material and a nationally designated geographical indication agricultural product in China.

ObjectiveTo establish a geographical origin identification model for Foeniculi Fructus from Haiyuan， providing a new technical reference for the protection of Haiyuan's geo-authentic medicinal materials and its designation as a national geographical indication agricultural product. MethodsSamples of Foeniculi Fructus were collected from eight producing areas， including Minqin （Gansu）， Bozhou （Anhui）， Qingdao （Shandong）， Dezhou （Shandong）， Urumqi （Xinjiang）， Nujiang （Yunnan）， Gutuo （Inner Mongolia）， and Haiyuan （Ningxia）. Gas chromatography-ion mobility spectrometry （GC-IMS） was used to detect the volatile organic compounds （VOCs） in samples from these geographic origins. VOCs were qualitatively analyzed through dual matching with the National Institute of Standards and Technology （NIST） mass spectral database and the IMS drift time database. Using the Reporter module and Gallery Plot visualization tools within the LAV analytical platform， VOC fingerprint profiles characterizing geographic origins were constructed. A non-targeted analytical strategy was adopted， and 97 VOCs detected via GC-IMS were subjected to principal component analysis （PCA） and partial least squares discriminant analysis （PLS-DA） based on their differential distribution patterns to construct an origin identification model for Foeniculi Fructus from Haiyuan region. Key discriminative markers were screened using variable importance in projection （VIP） values greater than 1. ResultsA total of 97 VOCs were identified， including alcohols， aldehydes， ketones， esters， organic acids， terpenoids， ethers， alkenes， and benzenes. The PLS-DA model， based on VOCs data obtained by GC-IMS， effectively distinguished Foeniculi Fructus in Haiyuan region from those of other origins. During cross-validation， the model achieved a prediction parameter （Q²） of 0.976 and a goodness-of-fit parameter （R²） of 0.936， with no overfitting observed in permutation testing. Twelve key flavor markers with VIP > 1 were identified as characteristic indicators of Haiyuan origin. ConclusionA stable and highly predictive origin identification model for Foeniculi Fructus from Haiyuan was successfully established using GC-IMS technology， PLS-DA， and VIP-based marker screening. This model provides a novel technical strategy for accurately distinguishing Foeniculi Fructus in Haiyuan region from other regional varieties and offers new technical support for its protection as a geo-authentic medicinal material and a nationally designated geographical indication agricultural product in China.

Objective To establish a personalized Stanford type B aortic dissection numerical simulation model, and using computational fluid dynamics (CFD) numerical simulation to obtain the hemodynamic behavior and law of the type B aortic dissection at different stages of development. Methods Based on the theory of three-dimensional model reconstruction, we used CT images of a patient with type B aortic dissection in the Xiamen Cardiovascular Hospital of Xiamen University, relevant medical image processing software to reconstruct a personalized aortic three-dimensional model, and CFD to reconstruct the model which was simulated in fluid mechanics. Results The three-dimensional reconstruction model could intuitively observe the changing trend of the false cavity at different stages of the dissection development. Through fluid mechanics simulation, the blood flow rate, pressure, wall shear stress, vascular wall Von Mises stress and other parameters at different stages of the dissection development were obtained. Conclusion The hemodynamic behavior and law of relevant parameters in the development stage of aortic dissection are analyzed. The combination of the values of relevant parameters and clinical medical detection and diagnosis can well predict the development of the disease, and finally provide more theories and methods for the scientific diagnosis of aortic dissection.

OBJECTIVE To establish a database of rational drug use for children in our hospital， and to provide reference for ensuring the safety of drug use in children. METHODS The construction and filling of the knowledge base of rational drug use for children were performed by establishing the basic structure of the knowledge base， formulating reference standards for the quality level of pediatric medication evidence， and refining evidence-based evidence of pediatric medication. The rule base of rational drug use for children was designed and built from four aspects： preliminary determination rules for patient information， basic drug information rules， prescription suitability review rules， result labeling and post-processing rules. The database was embedded into prescription review system of our hospital and was applied online to test its effectiveness. RESULTS A set of database containing 672 commonly used pediatric medicines and more than 15 000 rules for rational drug use for children was initially constructed. The average interception rate of unreasonable medical orders for hospitalized children after database application（from December 2021 to May 2022）was 2.03%， and was higher than 0.80% before database application（from June 2021 to November 2021）（χ 2＝5 784.389， P＜0.001）； after post-sampling and prescription review， the average qualified rate of medication orders in discharged medical records for children after the application of the database was 99.10%， and was higher than 94.58% before the application of the database （χ 2＝301.237， P＜0.001）. CONCLUSIONS Self-constructed evidence-based rational drug use database for children is close to the actual clinical needs of pediatrics in medical institutions， which can effectively reduce clinical irrational drug use behaviors in pediatrics， improve the pass rate of prescriptions， and ensure the safety of children’s drug use.

Objective:To conduct quality evaluation and content analysis of adult postoperative nausea and vomiting (PONV) guidelines, so as to provide reference for management of clinical PONV.Methods:Web of Science, Embase, PubMed, UpToDate, SinoMed, Wanfang Database, China National Knowledge Infrastructure, VIP, domestic and foreign clinical practice guidelines and related professional association websites were systematically searched, and the search period was from database establishment to May 6, 2022. Four researchers independently evaluated the guidelines that met the inclusion and exclusion criteria using a clinical guideline research and evaluation system, and summarized the recommendations of the guidelines.Results:Finally, a total of 15 guidelines were included in this study. The overall quality evaluation of the guide was 3 A-level recommendations and 12 B-level recommendations. The average standardization percentages for 6 areas were 81.57% for scope and purpose, 49.91% for participants, 65.38% for rigor, 89.54% for clarity, 34.86% for applicability and 55.42% for independence. A total of 18 recommendations were summarized from five aspects, such as team and organizational management, PONV risk assessment, baseline risk reduction, multimodal prevention of PONV and effectiveness evaluation and monitoring.Conclusions:The guidelines for PONV management mainly come from foreign countries. It is recommended that clinical personnel should learn from foreign guidelines and combine them with domestic clinical situations to localize the recommended opinions and guide the development of clinical practice.

Objective:To analyze the safety and efficacy of left atrial appendage closure(LAAC)with Watchman in patients ≥85 years with atrial fibrillation(AF).Methods:515 elderly patients with atrial fibrillation, including 73 patients aged 85 years or older(85~91), who had undergone Watchman LAAC at Zhoupu Hospital affiliated to Shanghai Health Medical College from August 2016 to December 2020, were retrospectively analyzed.Of those ≥85 years, 44(60.3%)with transesophageal echocardiography records were assigned to the elderly group.Fifty-three patients aged 60 to 65 were selected as the control group.Differences in baseline data, intraoperative conditions, antithrombotic treatment plans and 1-year follow-up prognosis were compared between the two groups.Results:Compared with the control group, there was no difference in AF types, history of ischemic stroke/transient ischaemic attack(all P>0.05), but there were higher incidences of coronary heart disease and renal insufficiency, more severe heart failure, higher CHA 2DS 2-VASC(6.0±1.5 vs.3.6±1.5), HAS-BLED(3.2±1.2 vs.2.3±1.3)scores( t values were 7.682 and 3.871, respectively, P<0.05), and a lower one-stop surgery rate(6 cases or 13.6% vs. 27 cases or 50.9%, χ2=10.517, P<0.05)in the advanced age group.There was no difference in the diameter of the Watchman device, rate of device replacement, compression percentage and residual flow between the two groups during the perioperative period.The incidences of device-related thrombosis were 4.5%(2/44)and 3.8%(2/53)for the advanced age group and the control group, respectively, but the difference was not statistically significant( P>0.05). During the 12-month follow-up, there were no cases of ischemic stroke or intracerebral hemorrhage.Three died of heart failure and 1 died of cancer. Conclusions:LAAC with Watchman is safe and effective for patients over 85 years with AF, but the decision on the procedure should be based on careful assessment of patients' cardiac and renal function and general health.

Autophagy is a highly conserved intracellular catabolic process used to degrade cytoplasmic components. In recent years, it has attracted much attention because of its importance in the pathogenesis and targeted therapy of acute and chronic kidney disease. Autophagy plays an important role in maintaining renal homeostasis under physiological and pathological conditions. The study of conditional autophagy related gene knockout specific to various renal cells has gradually revealed the role of autophagy in renal diseases. Recent studies have found that autophagy deficiency may play a key role in different pathological states of the kidney. Activated autophagy shows cytoprotective function in both glomerulus and renal tubulointerstitium, suggesting that the up regulation of autophagy may become a potential therapeutic strategy. However, there is also contrary evidence that autophagy may be harmful, which poses a great challenge to the development of therapeutic strategies for up-regulated autophagy.

OBJECTIVE: To explore the genotype-phenotype correlation of Cardio-facio-cutaneous syndrome (CFCS) caused by MAP2K1 gene variants. METHODS: Genomic DNA was extracted from peripheral blood sample from a child patient and his parents. Whole exome sequencing (WES) was carried out for the patient. Suspected variant was verified by Sanger sequencing. RESULTS: The patient was a 1-year-8-month old Chinese male who manifested short stature, psychomotor retardation, relative macrocephaly, distinctive facial features, and congenital heart disease. WES test revealed a heterozygous missense c.389A>G (p.Tyr130Cys) variant in the MAP2K1 gene. Sanger sequencing has confirmed the variant as de novo. According to ACMG/AMP guidelines, the variant was classified as pathogenic. CONCLUSION Compared with previously reported CFCS cases due to MAP2K1 variants. The patient showed obvious behavioral problems, good appetite and tricuspid regurgitation, which may to be novel features for CFCS.
China ; Ectodermal Dysplasia ; genetics ; Facies ; Failure to Thrive ; genetics ; Genetic Association Studies ; Genetic Variation ; Heart Defects, Congenital ; genetics ; Heterozygote ; Humans ; Infant ; MAP Kinase Kinase 1 ; genetics ; Male ; Mutation ; Whole Exome Sequencing