Objective To build the early predictive model for chronic kidney disease(CKD)in hypertension and diabetes patients in the community.Methods The CKD patients were recruited from 4 health care centers in 4 urban areas in Kunming.The control group was residents without hypertension and diabetes(n = 1267).The disease group was residents with hypertension and/or diabetes(n = 566).The questionnaire survey,physical examination,laboratory testing,and 5 SNPs gene types in the PVT1 gene.The risk factors,which were filtered with logistics regression,were used to build predictive models.Four machine learning algorithms were built:support vector machine(SVM),random forest(RF),Na?ve Bayes(NB),and artificial neural network(ANN)models.Results Thirteen indicators included in the final diagnostic model:age,disease type,ethnicity,blood urea nitrogen,creatinine,eGFR from MDRD,ACR,eGFR from EPI2009,PAM13 score,sleep quality survey,staying-up late,PVT1 SNP rs11993333 and rs2720659.The accuracy,specificity,Kappa value,AUC of ROC,and PRC of ANN are greater than those of the other 3 models.The sensitivity of RF is the highest among 4 types of machine learning.Conclusions The ANN predictive model has a good ability of efficiency and classification to predict CKD with hypertension and/or diabetes patients in the community.

Cerebral hyperperfusion syndrome (CHS) is a rare but serious complication after cerebral revascularization, which may lead to catastrophic consequences. The mechanism of CHS is not fully understood, and it may be related to cerebral autoregulation dysfunction and the increase of blood pressure after operation. Timely detection and treatment of cerebral hyperperfusion can avoid CHS. This article reviews the pathogenesis, diagnosis, clinical manifestations, prevention and treatment of CHS.

Objective:To survey the child health service capacity of community health service institutions in Shenzhen city.Methods:This was a cross-sectional study. An online survey was conducted among 559 community health service centers, stations and clinics in Shenzhen from January 23, 2024 to February 3, 2024. The questionnaire contents included the development of child health management, vaccination, diagnosis and treatment of common diseases in children, management of children′s chronic diseases, appropriate technology, availability of children′s special drug dosage forms, provision of special Chinese patent medicine and appropriate technology of traditional Chinese medicine for children, referral and remote consultation in 2019 and 2023. The reasons of unavailable service items were asked in the questionnaire and the questionnaire also contained an open-ended question about the suggestions for improving the capacity of child health services.Results:A total of 559 valid questionnaires were collected, accounting for 64.48% (559/867) of the community health service centers, stations and health clinics in Shenzhen in 2023. Compared to 2019, there was a significant increase in the rate of pediatric health services provided in 2023, including the diagnosis and treatment of common diseases in children under 6 years (96.06%, 537 institutions), nebulized inhalation therapy (96.60%, 540 institutions), influenza and other respiratory pathogen detection (90.70%, 507 institutions), rotavirus and other intestinal pathogen detection (34.53%, 193 institutions), allergen detection (81.75%, 457 institutions), blood oxygen saturation monitoring (84.44%, 472 institutions), pediatric-specific formulations of Western medicine (90.52%, 506 institutions), pediatric-specific formulations of traditional Chinese medicine (89.27%, 499 institutions), appropriate Chinese medicine techniques (88.19%, 493 institutions), relatively fixed referral hospitals (95.17%, 532 institutions), and remote consultation service (19.14%, 107 institutions); and the differences were statistically significant ( P<0.01). The reasons for unavailable service items were lack of space and personnel for the basic public health services, lack of space, personnel and a deficiency in knowledge and technical capabilities for diagnostic tests, and lack of equipment and personnel for remote consultation service. Suggestions made by 394 respondent institutions (70.48%) for further improvement included: conducting and strengthening various training (44.42%, 175/394), consultation and teaching by expert visiting (18.53%, 73/394), increasing the space and equipment (9.39%, 37/394), and further study at higher-level units (98.88%, 35/394). Conclusions:The child health services have been greatly improved in community health service institutions in Shenzhen, but there are still rooms for further improvement such as the ability of child health management, vaccination, chronic disease managements and provision of remote consultation.

Objective:To evaluate the efficacy and safety of a China-made disposable peroral cholangioscope in animal cholangioscopy.Methods:Six healthy Bama minipigs underwent the domestic disposable peroral cholangioscopy after anesthesia. The operation performance and image quality of the products were evaluated, and intraoperative and postoperative complications were recorded.Results:All 6 animals received the domestic disposable peroral cholangioscopy. The cholangioscope showed good operating performance and could smoothly enter the biliary tract through the duodenoscope. The water injection, suction and instrument channels were unobstructed. The cholangioscopic image was clear, the color resolution was good, and there was no image distortion. The lumen and the mucosal surface could be accurately assessed. During the examination, there was no operative injuries such as bleeding, perforation, or adverse events such as respiratory depression or cardiac arrest. All pigs survived the operation with no adverse reaction.Conclusion:The China-made disposable peroral cholangioscope is safe, with good operability and high-quality image.

OBJECTIVE: To analyze the clinical and genetic features of three patient diagnosed with Kleefstra syndrome. METHODS: Whole exome sequencing (WES) was carried out for the probands and their parents. Suspected variants were validated by Sanger sequencing. Copy number variations (CNV) were detected by CNV-seq and validated by real-time PCR. RESULTS: Proband 1 was found to carry a de novo heterogeneous variant (c.823+1G>T) of the EHMT1 gene, which may affect its expression. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS2+PM2). Proband 2 was found to carry a de novo missense variant c.439C>G (p.L147V) of the EHMT1 gene, which was predicted to be likely pathogenic (PS2+PM1+PM2+PP3). Proband 3 was found to carry a heterozygous 520 kb deletion at 9q34.3 by CNV-seq. The deletion has encompassed the whole of the EHMT1 gene. Real-time PCR has detected no CNV of this region in her parents. CONCLUSION Variants of the EHMT1 gene probably underlay the disease in these patients. Genetic testing has provided a basis for their clinical diagnosis.
Chromosome Deletion ; Chromosomes, Human, Pair 9 ; Craniofacial Abnormalities ; DNA Copy Number Variations ; Female ; Genetic Testing ; Heart Defects, Congenital ; Humans ; Intellectual Disability/genetics* ; Mutation

Objective:To investigate the influence of Covid-19 epidemic on the number of acute ischemic stroke patients with intravenous thrombolytic therapy in Dalian in 2020, the way to hospital, onset to door time (ODT), door to needle time(DNT), onset to needle time(ONT), and the National Institute of Health Stroke Scale (NIHSS) before and after intravenous thrombolytic therapy.Methods:This was a retrospective descriptive study on 13 map-participating hospitals in Dalian from August 2020 to December 2020. The number of acute ischemic stroke patients with intravenous thrombolytic therapy, ODT, DNT, ONT, modes of transport to hospital, the NIHSS score before and after intravenous thrombolytic therapy, etc were analyzed. Data were collected from August 1, 2020 to December 31, 2020, and compared with the baseline data from the same period in 2019.Results:SPSS 22.0 statistical software and Data Analysis ToolPak were used for statistical analysis of the obtained data, and T tests statistic was used for data analysis. In 2020,the number of acute ischemic stroke patients with intravenous thrombolytic therapy increased (681 cases vs 416 cases), and DNT increased [50 minutes vs 45 minutes P = 0.01]. In 2020, 83.55% of patients indicated self-visit as their main mode of transport to the hospital. In 2020, among the self-visit patients with NIHSS score<15 scores,the number of the patients with the NHISS score unchanged or decreased after intravenous thrombolytic therapy was more (562 scores vs. 535 scores, P<0.001), and the patients with NIHSS score ≥15 scores were more willing to call ambulances to hospital. Conclusions:During the Covid-19 epidemic period of 2020, the number of acute ischemic stroke patients receiving intravenous thrombolytic therapy increased, DNT increase; the patients withNIHSS score<15 scores are more willing to choose to visit the hospital using their own transportation and benefit from intravenous thrombolytic therapy. The patients with NIHSS ≥15 scores prefer to call ambulances to hospital.

Objective:To explore the application of ArcCheck system in the validation of Helical and Direct tomotherapy plans for esophageal cancer and summarize relevant experience.Methods:The Helical and Direct tomotherapy verification plans were established for 32 patients with esophageal cancer at different positions according to the doctor′s instructions, which were verified by the ArcCHECK system to compare the passing rate of the results.The correlation between the volume of the target area and the passing rate of the planned verification was analyzed. The therapeutic verification plan with a small target volume was made. The target area was placed at the center of ArcCHECK phantom and the area of detectors to statistically compare the verification passing rates.Results:Helical plan showed a significantly higher passing rate than the Direct plan ( P<0.01). The correlation coefficients between the target volume and the passing rate of the Helical and Direct plans were -0.364 and -0.042, and the P values were 0.041 and 0.819, respectively. For the Helical plan, when the 3%/2mm criterion was adopted, there was significant difference between placing the high-dose area at the center of the phantom and the area of detectors ( P=0.005), and the passing rate of the latter was higher. There was no significant difference in the other cases (all P>0.05). Conclusions:The passing rate of the Helical plan is generally higher than that of the Direct plan, which may be related to the angular response of the ArcCHECK detector and the fact that more reference points are not included for calculation due to low-dose radiation. In addition, it may also be related to the higher requirements of Direct plan for tomotherapy dose control system. In the Helical verification plan, when the 3%/3mm criterion is adopted, the larger the target volume, the higher the possibility of lower passing rate, whereas the correlation coefficient between them is relatively low. The high-dose area can be verified by the plans at the center of the phantom or the detection point. With the comprehensive consideration, we suggest putting it at the center of the phantom.

Objective: To sequence the 3′UTR of enterovirus 71 strains, investigate its foundation and impact in virulence by constructing a 3′UTR-replaced recombinant cDNA infectious clone. Methods: Viral RNA of EV-A71 isolated viruses were extracted, and the nucleotide analysis was performed after sequencing. The 3′UTR of a full-length infectious clone of SDLY107 strain was replaced by its corresponding part of SDLY1 strain, and then the recombinant virus was constructed and identified. Results: The nine isolated strains were classified into sub-genotype C4a of enterovirus (EV)-A71 by analysis, and nucleotide sequence homology for 3′UTR were 94%-100%. 3′UTR of EV-A71 strains may be associated with its pathogenicity. Identification of the rescued virus by sequencing and indirect immunofluorescence confirmed the successful construction of infectious recombinant virus. Conclusions Sequence analysis indicated that the 3′UTR may be involved in the pathogenicity of EV-A71. The recombinant virus SDLY107(1-3′UTR) was rescued successfully. Our study may provide evidence for further research on the influence of 3′UTR on the virulence of enterovirus 71.

Objective To investigate the expression of thymidylate synthase (TS) in breast cancer and its relationship with fluorouracil sensibility and patients' prognosis.Methods TS expression in 80 cases of breast cancer was measured by RT-QPCR.The chemotherapy (CAF) was given.Relationship between TS and fluorouracil sensibility was studied,as well as the relation between TS expression and prognosis of breast cancer.Result Positive expression of TS gene was detected by Q-PCR 1n 27.5％ of the breast cancer specimens.The expression of TS had no relation with age,lymphatic metastasis,histological grade or clinical stage,while it was obviously correlated with HER2 (P＜0.01).The expression of TS had negative correlation with the antitumor effect of fluorouracil.The five-year survival rate of TS positive patients was lower than that of TS negative patients (P＜0.01).Conclusions Breast cancer patients with low expression of TS may benefit from fluorouracil.TS can be used as a molecule marker for predicting efficacy of breast cancer chemotherapy.

Enterovirus 71 (EV71) is one of the important pathogens of hand, foot and mouth disease (HFMD) in infants and young children. It is also a very important and common virus after poliovirus which is associated with severe acute neurological disease. Mutations or spatial structure changes in untranslated regions (UTRs) may affect the ability of the virus to translate and replicate, as well as the affinity of the virus for cellular tissue, and even lead to changes in virulence. At present, the pathogenic mechanism of EV71 is still unknown, and the study of untranslated regions is an indispensable part. Here we briefly review the development of the study of basic structure and function of EV71 untranslated regions in recent years.