This case report presents a 16-year-old male patient with deficiency of adenosine deaminase 2(DADA2). The patient had a history of Raynaud′s phenomenon with digital ulcers since childhood. As the disease progressed, the patient developed retinal vasculitis, intracranial hemorrhage, skin necrosis, severe malnutrition, refractory hypertension, and gastrointestinal bleeding. Genetic testing revealed compound heterozygous mutations in the ADA2 gene (paternal c.1072G > A pathogenic mutation + maternal c.1065C > A variant of unknown clinical significance). ADA2 enzyme activity was significantly reduced (0.1 U/L). A multidisciplinary treatment team developed an individualized plan to address key issues, including nutritional support, blood pressure control, rehabilitation, pain management, and balancing anticoagulation/bleeding risks. After systematic intervention, the patient′s condition showed partial improvement. This case reveals clinical challenges such as anticoagulation decisions and nutritional support of DADA2. It also emphasizes the importance of early molecular diagnosis, tumor necrosis factor-α inhibitor targeted therapy, and multidisciplinary collaboration in management, underlining the core value of precision medicine in rare disease management.

Objective: To investigate the characteristics and HIV confirmed positive status among individuals attending HIV voluntary counseling and testing (VCT) clinics in Inner Mongolia Autonomous Region, so as to provide the basis for enhancing interventions targeting high-risk populations for AIDS. Methods: Demographic information, reasons for consultation, consulting institutions, and HIV antibody testing data of individuals attending VCT clinics in Inner Mongolia Autonomous Region from 2019 to 2023 were collected through the VCT database of the Chinese Center for Disease Control and Prevention. The characteristics of individuals attending VCT were described. Factors affecting HIV confirmed positive among VCT clinic attendees were analyzed using a multivariable logistic regression model. Results: A total of 249 919 individuals attended VCT clinics in Inner Mongolia Autonomous Region from 2019 to 2023, including 128 069 males (51.24%) and 121 850 females (48.76%). The majority of attendees were aged 25-<35 years, accounting for 92 445 cases (36.99%). Among them, 785 cases were confirmed as HIV positive, with a positivity rate of 0.31%. Multivariable logistic regression analysis revealed that males (OR=4.787, 95%CI: 3.562-6.434), 45-<65 years of age (45-<55 years, OR=7.723, 95%CI: 1.786-33.406; 55-<65 years, OR=7.689, 95%CI: 1.757-33.653), being unmarried (OR=2.143, 95%CI: 1.580-2.906), junior high school education or below (OR=1.147, 95%CI: 1.042-2.430), having the history of high-risk behaviors or exposure risks (commercial heterosexual behaviors, OR=2.717, 95%CI: 1.707-4.324; non-commercial non-fixed heterosexual behaviors, OR=5.421, 95%CI: 3.763-7.809; homosexual behaviors, OR=70.774, 95%CI: 48.409-103.473; having an HIV-positive spouse/fixed partner/mother, OR=100.024, 95%CI: 62.490-160.100; drug injection, OR=5.366, 95%CI: 2.213-13.014), and seeking general hospitals or traditional Chinese medicine hospitals (OR=1.973, 95%CI: 1.650-2.360) were associated with a higher risk of HIV confirmed positive. Conclusions HIV confirmed positive among individuals attending VCT clinics in Inner Mongolia Autonomous Region is associated with gender, age, marital status, educational level, reasons for consultation, and consulting institutions. It is recommended to strengthen health education and targeted interventions for high-risk populations to reduce the risk of HIV infection.

Objective　Exploring the risk factors and degree of influence on treatment regression of patients with etiologically positive pulmonary tuberculosis in Bijie city, so as to provide reference for the precise prevention and treatment of pulmonary tuberculosis epidemic. Methods　The medical records of registration, treatment and management of pulmonary tuberculosis patients in Bijie City with positive etiology from 2017 to 2022 were derived from the Tuberculosis Monitoring Report Information Management System. Statistically significant variables were screened using binary logistic regression. Revealing interdependencies between factors and conditional probabilities by constructing Bayesian network models. 　Results　A total of 21 662 cases of etiologically positive pulmonary tuberculosis were registered in Bijie City from 2017 to 2022, with etiologically positive rate of 48.60% and a successful treatment rate of 89.52%, both of which were on the rise overall (χ2trend=2 618.15, P<0.001; χ2trend=102.84, P<0.001). A multifactorial analysis showed that gender, age, ethnicity, occupation, patient origin, HIV test results, migrating population, and treatment classification were influencing factor for the successful treatment rate (P<0.05). The Bayesian network model showed that age and treatment classification were the direct factors affecting the treatment outcome, while gender, occupation and patient origin were the indirect factors. Conditional probability showed that patients<20 years of age and initial treatment had the highest rate of successful treatment (96.75%), with a 3.25% probability of having an adverse outcome; Patients≥80 years of age who were retreated had the lowest rate of successful treatment (58.70%), with a 41.30% probability of having an adverse outcome. Conducting causal effect speculation, when preventing tuberculosis in older persons aged 60 years and over, and the other patients are newly treated patients, the successful treatment rate increased from 89.50% to 93.10%, with an increase of 3.60%; Nearly 50.00% fewer farmers are without tuberculosis, and the source of the other patients is active detection (health check-ups and proactive screening), with an increase in the successful treatment rate from 89.50% to 91.70%, with a change in the conditional probability value of 2.20%. Conclusions　Consultation and management of male, elderly, re-treatment, farmer, HIV-positive pulmonary tuberculosis patients in Bijie should be strengthened. Meanwhile, causal correlation effect inference using Bayesian networks is important for precise prevention, control and treatment of diseases.

OBJECTIVE To optimize the water extraction technology for Kaixin granules. METHODS UPLC-MS/MS method was established for the simultaneous determination of ginsenoside Rg1， ginsenoside Re， ginsenoside Rb1， tenuifolin， polygalaxanthone Ⅲ and 3， 6′-disinapoyl-sucrose. An orthogonal test was designed with extraction times， extraction duration， and the volume of added water as factors. Using the contents of the aforementioned six indicator components and the extract yield as evaluation indexes， analytic hierarchy process-entropy weight method was employed to determine the combined weights of each indicator. Subsequently， process optimization and validation were conducted by integrating grey relational analysis （GRA） and back propagation （BP） neural network. RESULTS The water extraction technology optimized by the orthogonal test and GRA was 10- fold water for the first decoction and 8-fold water for the subsequent two， extracting 3 times，extracting for 1 h each time； the average comprehensive score of the validation experiment was 91.10 （RSD＝0.31%， n＝3）. The water extraction technology optimized by BP neural network was extracting 3 times with 10-fold water added each time， extracting for 1.5 h each time； the average comprehensive score of the validation experiment was 95.89 （RSD＝0.73%， n＝3）. Considering practical production requirements， the optimal water extraction technology was extraction performed three times， with 10-fold water for the first decoction and 8-fold water for the subsequent two extractions， with an extraction time of 1 h each. CONCLUSIONS The optimized water extraction technology for Kaixin granules is stable and feasible.

ObjectiveTo investigate the effect and mechanism of modified Guizhi Fulingwan in preventing colorectal adenoma （CRA） in mice by regulating mitochondrial apoptosis pathway through the regulation of the phosphatase and tensin homolog （PTEN）/phosphatidylinositol 3-kinase （PI3K）/protein kinase B （Akt） pathway. MethodSixty SPF-grade male C57BL/6 mice were randomly divided into six groups： Normal group， model group， low， medium， and high dose groups of modified Guizhi Fulingwan （13， 26， 52 g·kg^-1·d^-1）， and positive control aspirin group （0.015 g·kg^-1·d^-1）. A mouse model of CRA was chemically induced using azoxymethane （AOM） and dextran sulfate sodium （DSS）. During the modeling process， mice received modified Guizhi Fulingwan or aspirin. Body weight of mice was measured weekly during the treatment. After 9 weeks， the number of adenomas formed was observed. Serum levels of tumor necrosis factor-α （TNF-α）， interleukin-6 （IL-6）， and interleukin-1β （IL-1β） were determined by enzyme-linked immunosorbent assay （ELISA）. Hematoxylin-eosin （HE） staining was used to observe the histopathologic changes in adenoma tissues. The expression of Cyclin D₁ and proliferative nuclear antigen （Ki67） was detected by immunohistochemistry （IHC）. Terminal deoxynucleotidyl transferase dUTP nick end labeling （TUNEL） was used to assess the apoptosis in adenoma tissues. Real-time fluorescence quantitative polymerase chain reaction （Real-time PCR） and Western blot were used to observe the mRNA and protein expression levels of PTEN， PI3K， Akt， phosphorylated PI3K （p-PI3K）， phosphorylated Akt （p-Akt）， B-cell lymphoma-2 （Bcl-2）， Bcl-2 associated X protein （Bax）， cytochrome C （Cyt C）， Caspase-9， and caspase-3. ResultCompared with the normal group， the model group showed no significant change in body weight from week 1 to week 2， but a significant decrease from week 3 to week 9 （P<0.05，P<0.01）. The colorectal length was significantly shortened， and the colorectal weight increased with visible varying sized tumor-like protrusions on the mucosal surface （P<0.01）. Serum levels of TNF-α， IL-6， and IL-1β were elevated （P<0.01）. Histopathology showed disordered epithelial gland structure， elongated nuclei with pathological mitosis， and numerous lymphocytic infiltrations in the lamina propria. The positive expression rates of Cyclin D₁ and Ki67 were significantly increased （P<0.01）， while the apoptosis rate of adenoma cells was significantly decreased （P<0.01）. Expression levels of PI3K， Akt， Bcl-2 mRNA and proteins， as well as p-PI3K and p-Akt proteins， were significantly increased （P<0.01）， whereas PTEN， Bax， Cyt C， Caspase-9， and Caspase-3 mRNA and protein levels were significantly decreased （P<0.05， P<0.01）. Compared with the model group， all drug treatment groups showed an increase in body weight （P<0.01）， decreased intestinal weight， increased colorectal length， reduced number of adenomas significantly （P<0.05， P<0.01）， and significantly lowered serum levels of TNF-α， IL-6， and IL-1β （P<0.01）. Histopathology indicated improved glandular structure and reduced neutrophil infiltration in the mucosal lamina propria. The positive expression rates of Cyclin D₁ and Ki67 significantly decreased （P<0.01）， while the apoptosis rate of adenoma cells significantly increased （P<0.05， P<0.01）. Expression levels of PI3K， Akt， Bcl-2 mRNA and proteins， and p-PI3K and p-Akt proteins were significantly reduced （P<0.05， P<0.01）， while PTEN， Bax， Cyt C， Caspase-9， and Caspase-3 mRNA and protein levels significantly increased （P<0.05， P<0.01）. The high-dose modified Guizhi Fulingwan group exhibited the most significant intervention effects. ConclusionModified Guizhi Fulingwan may prevent CRA in mice by regulating the PTEN/PI3K/Akt signaling pathway and inducing the mitochondrial apoptosis pathway.

The objective of this study was to examine the effects of electroacupuncture on the expression of ATP-binding cassette transporter A1(ABCA1),ATP-binding cassette transporter G1(ABCG1),and class B type Ⅰ scavenger receptor(SR-B Ⅰ)genes and proteins in peritoneal macrophages of atherosclerotic rabbits.The study aimed to explore the mechanism underlying the treatment of atherosclerosis(AS)with electroacupuncture.Methods Twenty-six male New Zealand rabbits were randomly divided into the negative control group(n=7)and the modeling group(n=19)using a random number table method.The negative control group rabbits were fed a regular diet,while the modeling group was induced with a combination of high-fat feed and common carotid artery balloon injury surgery to create an AS model.After successful modeling,the rabbits in the modeling group were further divided into the model group,the electroacupuncture group,and the atorvastatin group,with 6 rabbits in each group.The rabbits in the electroacupuncture group received electroacupuncture at"'Neiguan'(PC6)","'Zusanli'(ST36)",and"'Guanyuan'(ST25)"acupoints,using a density wave,a current of 1 mA,and a frequency of 4 Hz/20 Hz,once a day.The needle was retained for 20 minutes each time,and a total of 4 courses of treatment were conducted,with 6 days per course.The rabbits in the atorvastatin group were administered atorvastatin calcium tablet suspension(1 mg/kg)orally once a day,for 6 days per course,with a total of 4 courses.After the interventions,HE staining was performed to observe the morphological changes in the common carotid artery tissue of the rabbits.Peritoneal macrophages were collected from the rabbits,and the mRNA expression levels of ABCA1,ABCG1,and SR-B Ⅰ were measured using real-time fluorescence PCR.The protein expression levels of ABCA1,ABCG1,and SR-B Ⅰ were detected using Western blotting.Results The negative control group exhibited smooth intima of common carotid artery in rabbits,while the model group displayed damaged intima of common carotid artery,thickened artery walls,and the formation of atherosclerotic plaques.The electroacupuncture group and atorvastatin group showed significant improvements in wall thickening and a reduction in plaque area.Compared with the negative control group,the mRNA and protein expressions of ABCA1,ABCG1,and SR-B Ⅰ in peritoneal macrophages of rabbits in the model group were reduced(P＜0.01).Compared with the model group,the electroacupuncture group and atorvastatin group exhibited increased mRNA and protein expressions of ABCA1,ABCG1,and SR-B Ⅰ in abdominal macrophages of rabbits(P＜0.01).Furthermore,the atorvastatin group demonstrated increased mRNA levels of ABCG1 and SR-B Ⅰ,as well as increased protein expressions of ABCA1,ABCG1,and SR-B Ⅰ in peritoneal macrophages of rabbits,in comparison to the electroacupuncture group(P＜0.01).Conclusion Electroacupuncture can enhance the expressions of ABCA1,ABCG1,and SR-B Ⅰ mRNA and protein in abdominal macrophages of AS rabbits,thereby promoting the process of cholesterol reverse transport.This may be one of the mechanisms underlying the effectiveness of acupuncture in the treatment of AS.

Objective:To investigate the relationship between intramuscular adipose tissue index (IATI) calculated from computed tomography images at transverse process of the first lumbar and all-cause mortality in maintenance dialysis patients, and to provide a reference for improving the prognosis in these patients.Methods:It was a multicenter retrospective cohort study. The clinical data of patients who received maintenance hemodialysis or peritoneal dialysis treatment from January 1, 2017 to December 31, 2019 in 4 grade Ⅲ hospitals including Zhongda Hospital Affiliated to Southeast University, Taizhou People's Hospital Affiliated to Nanjing Medical University, Affiliated Hospital of Yangzhou University, and the Third Affiliated Hospital of Soochow University were retrospectively collected. IATI was calculated by low attenuation muscle (LAM) density/skeletal muscle density. The receiver-operating characteristic curve was used to determine the optimal cut-off value of IATI, and the patients were divided into high IATI group and low IATI group according to the optimal cut-off value. The differences of baseline clinical data and measurement parameters of the first lumbar level between the two groups were compared. The follow-up ended on December 23, 2022. The endpoint event was defined as all-cause mortality within 3 years. Kaplan-Meier survival curve and log-rank test were used to analyze the survival rates and the differences between the two groups. Multivariate Cox regression analysis models were used to analyze the association between IATI and the risk of all-cause mortality in maintenance dialysis patients. Multivariate logistic regression analysis model was used to analyze the influencing factors of high IATI.Results:A total of 478 patients were eligibly recruited in this study, with age of (53.55±13.19) years old and 319 (66.7%) males, including 365 (76.4%) hemodialysis patients and 113 (23.6%) peritoneal dialysis patients. There were 376 (78.7%) patients in low IATI (<0.42) group and 102 (21.3%) patients in high IATI (≥0.42) group. The proportion of age ≥ 60 years old ( χ2=24.746, P<0.001), proportion of diabetes mellitus ( χ2=5.570, P=0.018), fasting blood glucose ( t=-2.145, P=0.032), LAM density ( t=-3.735, P<0.001), LAM index ( t=-7.072, P<0.001), and LAM area/skeletal muscle area ratio ( Z=-9.630, P<0.001) in high IATI group were all higher than those in low IATI group, while proportion of males ( χ2=11.116, P<0.001), serum albumin ( Z=2.708, P=0.007) and skeletal muscle density ( t=12.380, P<0.001) were lower than those in low IATI group. Kaplan-Meier survival analysis showed that the 3-years overall survival rate of low IATI group was significantly higher than that in high IATI group (Log-rank χ2=19.188, P<0.001). Multivariate Cox regression analysis showed that IATI<0.42 [<0.42/≥0.42, HR(95% CI): 0.50 (0.31-0.83), P=0.007] was an independent protective factor of all-cause mortality, and age ≥60 years old [ HR (95% CI): 2.61 (1.60-4.23), P<0.001], diabetes mellitus [ HR (95% CI): 1.71 (1.06-2.78), P=0.029] and high blood neutrophil/lymphocyte ratio [ HR (95% CI): 1.04 (1.00-1.07), P=0.049] were the independent risk factors of all-cause mortality in maintenance dialysis patients. Stepwise Cox regression analysis showed that IATI<0.42 was still an independent protective factor of all-cause mortality in maintenance dialysis patients [<0.42/≥0.42, HR (95% CI): 0.45 (0.27-0.76), P=0.003]. Multivariate logistic regression analysis showed that low skeletal muscle density [ OR (95% CI): 0.84 (0.81-0.88), P<0.001] and high serum triglyceride [ OR (95% CI): 1.39 (1.07-1.82), P=0.015] were the independent influencing factors of IATI≥0.42. Conclusion:IATI<0.42 of the first lumbar level is an independent protective factor of all-cause mortality in maintenance dialysis patients. Localized myosteatosis within high-quality skeletal muscle may reduce the risk of all-cause mortality in these patients.

ObjectiveKey microRNAs （miRNAs） of colorectal adenoma （CRA） were identified and analyzed by bioinformatics methods， and differentially expressed genes （DEGs） were screened to construct regulatory relationships. The mechanism of Xiezhuo Jiedu recipe in preventing CRA was speculated and verified by animal experiments. MethodThe miRNAs dataset GSE50194 was obtained from the Gene Expression Omnibus （GEO） database of intestinal mucosal tissue of CRA patients， and the differentially expressed miRNAs were screened by GEO2R and Excel. TargetScan， miRTarbase， and miRDB databases were used to predict the target genes of the differentially expressed miRNAs， and an intersection was obtained. Key DEGs were screened through the STRING database and Cytoscape software， and the TRRUST database was used to predict downstream binding transcription factors （TFs）. The mRNA intersection was enriched by gene ontology （GO） and Kyoto encyclopedia of genes and genomes （KEGG） in the Metascape database. DIANA TOOLS were applied to perform KEGG enrichment analysis of key miRNAs， and the key signaling pathways were selected for animal experiments. In animal experiments， the CRA mice model was established by using sodium glycan sulfate （DSS） drinking combined with intraperitoneal injection of azomethane oxide （AOM）， and Xiezhuo Jiedu recipe and aspirin were given by intragastric administration at the same time. The experiment lasted for nine weeks. The pathological changes in intestinal tissue were observed by hematoxylin-eosin （HE） staining. Real-time fluorescence quantitative polymerase chain reaction （Real-time PCR） was used to detect the mRNA expression of miR-34a-5p in adenoma tissue. Protein expression levels of phosphatidylinositol 3-kinase （PI3K）， protein kinase B （Akt）， phosphoryl-PI3K （p-PI3K）， phosphoryl-Akt （p-Akt）， and B cell lymphoma （Bcl）-2 were detected by Western blot. The expression of Cyclin D1 （CCND1） was detected by immunohistochemistry （IHC）. In situ terminal transferase labeling （TUNEL） was used to detect apoptosis of adenoma tissue cells. ResultThe GEO database screened the GSE50194 dataset， and miR-34a-5p was selected as the research object from CRA and normal tissue. A total of 93 DEGs were selected. Among them， GO and KEGG enrichment analyses were closely related to biological processes such as transcriptional regulatory complex， RNA polymerase Ⅱ transcriptional regulatory complex， enzyme-linked receptor protein signaling pathway， and DNA-binding transcriptional activator activity， cancer pathway， PI3K/Akt pathway， etc. miR-34a-5p is mainly enriched in PI3K/Akt， cell cycle， and colorectal cancer pathways. Five key DEGs were screened out through the Matescape database， among which Bcl-2 and CCND1 were the key DEGs of miR-34a-5p. Further screening of the TFs of key DEGs revealed that E2F transcription factor 1 （E2F1） and tumor protein P53 （TP53） were the main TFs of Bcl-2 and CCND1. Animal experiments showed that Xiezhuo Jiedu recipe could effectively up-regulate mRNA level of miR-34a-5p， down-regulate the expression of PI3K， Akt， Bcl-2， p-PI3K， and p-Akt proteins in the intestinal tissue of CRA mice， down-regulate the positive expression rate of CCND1， and increase the apoptosis rate of intestinal epithelial cells. ConclusionIt is speculated that Xiezhuo Jiedu recipe may inhibit the abnormal proliferation and promote the apoptosis of intestinal epithelial cells in CRA mice by regulating the miR-34a-5p/PI3K/Akt signaling pathway， thus playing a role in the prevention of CRA.

Objective To understand the internal quality control(IQC)situation of routine biochemical projects in Guizhou Province from 2020 to 2022,and to use the analysis batch length sigma rule to select the appropriate IQC strategy for routine biochemical projects.Methods A sum of 41,41 and 52 laboratories were selected from the laboratories participating in the first external quality assessment(EQA)program of the routine biochemical project in the Guizhou Provincial Center for Clinical Laboratory from 2020 to 2022,which uniformly used two concentration levels of internal quality control products produced by Randox Company in the UK.The coefficient of variation(CV)was calculated based on their IQC information,and then these CV values were used to compare with imprecise performance specifications such as WS/T403-2012 standards.The IQC situation of routine biochemical projects of Guizhou Province in recent years was analyzed.Randomly 15 laboratories were selected each year to report the results of the triglyceride project,and their σ values were calculated.Based on the Westgard sigma rule flowcharts of the analysis batch length,appropriate quality control strategies were selected and the quality goal index(QGI)was calculated to evaluate analytical performance of laboratory detection system.Results In the current monthly CV,the proportion of laboratories that met the WS/T403-2012 standards for Ca and TP projects was relatively low,while the pass rates for 7 projects(P,CK,LDH and other projects)were all above 80%,showing an increasing trend year by year.The proportion of laboratories with the 7 projects(P,CK,LDH and other projects)meeting the performance specifications for biomedical variation(appropriate)all reached 90%,while the proportion of laboratories with 5 projects(Na,Ca,Cl and other projects)was relatively low.The proportion of 10 projects such as P,CK,and LDH in cumulative CV of laboratories that met the performance specifications for biomedical variation(appropriate)was over 90%.For the triglyceride project,from 2020 to 2022,there were 2,5 and 13 laboratories that reached 6 σ horizontal.Compared to values of 2020 and 2021 years,the trend of σ values changes of 2022 was increasing(t=3.855,3.511,P≤0.001),indicating that the analytical performance of these laboratories was getting better and better.Conclusion The IQC levels of routine biochemical projects in Guizhou Province were increasing year by year.The Westgard sigma rule of the analysis batch length is designed with personalized quality control rules for various laboratories in Guizhou Province,thus improving laboratory testing capabilities and better severing clinics.

This study searched the clinical researches on traditional Chinese medicine （TCM） for cardiovascular diseases registered in Chinese Clinical Trial Registry and the US Clinical Trial Registry， the cardiovascular disease-related studies funded by the National Natural Science Foundation of China， as well as those published in China National Knowledge Infrastructure （CNKI）， Wanfang database， VIP.com， China Biology Medicine disc （CBMdisc）， Embase， Medline， Cochrane Library， and other databases published cardiovascular disease-related studies from 1 January 2021 to 30 June 2023. In order to analyse and evaluate the research progress of TCM treatment for coronary heart disease， hypertension， heart failure， and arrhythmia， this study aimed at recent research hotspots and research direction. It is found that the research on TCM for cardiovascular diseases was gradually deepening and the high-quality evidence continued to emerge. It is believed that studies related to the prevention and treatment of common cardiovascular diseases by TCM reflected the multi-angle integration of modern technology and pattern differentiation and treatment， closer integration of clinical and basic research， and further optimisation of pattern identification and interventions. On this basis， the research programme and implementation process should be further standardized， and the translation of research results should be emphasized to promote the standardized application and promotion of TCM diagnosis and treatment of cardiovascular diseases.