BACKGROUND:There are differentially expressed genes in acute intracerebral hemorrhage,which are related to the occurrence and development of intracerebral hemorrhage. OBJECTIVE:To screen differentially expressed genes and key genes in brain tissue of a rat model with acute intracerebral hemorrhage,to validate them through qPCR,and to analyze the relationships between key genes and the neurological function and brain tissue water content after intracerebral hemorrhage. METHODS:Seventy-eight Sprague-Dawley rats were randomly divided into two groups:in intracerebral hemorrhage group,a rat model of acute intracerebral hemorrhage was made using collagenase injection at the right caudate nucleus;and in sham-operated group,rats were injected with equal amount of saline at the same site.RNA was extracted from rat brain tissues of both groups using the TRIzol method and transcriptome sequencing technology was used to identify differentially expressed genes in brain tissues of acute intracerebral hemorrhage,which were then verified by qPCR and analyzed for the relationships between the genes and neurological function and brain tissue water content after intracerebral hemorrhage.And the key genes were analyzed by GO and KEGG functional enrichment analysis in combination with bioinformatics. RESULTS AND CONCLUSION:Ten key genes were identified,including CXCL8,SERPINE1,TFPI2,CXCR4,GDA,KCNQ5,ERICH3,SCN3B,CACNA1E,and CCL20.The contents of GDA,KCNQ5,ERICH3,SCN3B,and CACNA1E in the intracerebral hemorrhage group were lower than those in the sham-operated group(P＜0.05).The contents of CXCL8,SERPINE1,TFPI2,CXCR4 and CCL20 in the intracerebral hemorrhage group were higher than those in the sham-operated group(P＜0.05).The contents of GDA,KCNQ5,ERICH3,SCN3B,and CACNA1E were positively correlated with brain tissue water content and neurologic deficit score(P＜0.05),while the contents of CXCL8,SERPINE1,TFPI2,CXCR4 and CCL20 were negatively correlated with brain tissue water content and neurologic deficit score(P＜0.05).GO analysis indicated that differentially expressed genes were mainly enriched in two biological processes(leukocyte chemotaxis and chemokine-mediated signaling pathways),two cell components(cation channel complexes and ion channel complexes),and two molecular functions(gated channel activity and ion channel activity).KEGG analysis indicated that differentially expressed genes were concentrated in tumor necrosis factor signaling pathway,glutamatergic synapses and GABAergic synapses.To conclude,the differentially expressed genes in intracerebral hemorrhage include CXCL8,SERPINE1,TFPI2,CXCR4,GDA,KCNQ5,ERICH3,SCN3B,CACNA1E,and CCL20,and these genes are related to brain tissue water content and neurological function after intracerebral hemorrhage.These genes are mainly enriched in cell components,binding functions,cellular protrusions,and other related biological functions.

It is believed that retention due to deficient qi is an important pathogenesis of endometriosis （EMs）. Deficient qi is the root of the disease， mainly manifested as spleen deficiency， while retention is the branch pathogenesis of the disease， mainly with blood stasis， complicated with constraint， phlegm， heat， toxin and other pathological factors. Therefore， it is proposed to follow the treatment principle of supplementing deficiency and unblocking stagnation， and take the methods of replenishing qi and fortifying the spleen， removing stasis and eliminating concretions. Self-made Fuzheng Huayu Formula （扶正化瘀方） is taken as the basic formula， and can be modified with the symptoms in menstrual and non-menstrual periods. Additionally， the methods of moving qi， dispelling phlegm， clearing heat， relieving toxin and others can be combined， and it is recommended to treat the root and the branch simultaneously.

Objective To investigate the dietary patterns of rural residents in the high-incidence areas of esophageal cancer (EC), and to explore the clustering and influencing factors of risk factors associated with high-incidence characteristics. Methods A special structured questionnaire was applied to conduct a face-to-face survey on the dietary patterns of rural residents in Yanting county of Sichuan Province from July to August 2021. Univariate and multivariate logistic regression models were used to analyze the influencing factors of risk factor clustering for EC. Results There were 838 valid questionnaires in this study. A total of 90.8% of rural residents used clean water such as tap water. In the past one year, the people who ate fruits and vegetables, soybean products, onions and garlic in high frequency accounted for 69.5%, 32.8% and 74.5%, respectively; the people who ate kimchi, pickled vegetables, sauerkraut, barbecue, hot food and mildew food in low frequency accounted for 59.2%, 79.6%, 68.2%, 90.3%, 80.9% and 90.3%, respectively. The clustering of risk factors for EC was found in 73.3% of residents, and the aggregation of two risk factors was the most common mode (28.2%), among which tumor history and preserved food was the main clustering pattern (4.6%). The logistic regression model revealed that the gender, age, marital status and occupation were independent influencing factors for the risk factors clustering of EC (P<0.05). Conclusion A majority of rural residents in high-incidence areas of EC in Yanting county have good eating habits, but the clustering of some risk factors is still at a high level. Gender, age, marital status, and occupation are influencing factors of the risk factors clustering of EC.

Background::Breast cancer (BC) risk-stratification tools for Asian women that are highly accurate and can provide improved interpretation ability are lacking. We aimed to develop risk-stratification models to predict long- and short-term BC risk among Chinese women and to simultaneously rank potential non-experimental risk factors.Methods::The Breast Cancer Cohort Study in Chinese Women, a large ongoing prospective dynamic cohort study, includes 122,058 women aged 25-70 years old from the eastern part of China. We developed multiple machine-learning risk prediction models using parametric models (penalized logistic regression, bootstrap, and ensemble learning), which were the short-term ensemble penalized logistic regression (EPLR) risk prediction model and the ensemble penalized long-term (EPLT) risk prediction model to estimate BC risk. The models were assessed based on calibration and discrimination, and following this assessment, they were externally validated in new study participants from 2017 to 2020.Results::The AUC values of the short-term EPLR risk prediction model were 0.800 for the internal validation and 0.751 for the external validation set. For the long-term EPLT risk prediction model, the area under the receiver operating characteristic curve was 0.692 and 0.760 in internal and external validations, respectively. The net reclassification improvement index of the EPLT relative to the Gail and the Han Chinese Breast Cancer Prediction Model (HCBCP) models for external validation was 0.193 and 0.233, respectively, indicating that the EPLT model has higher classification accuracy.Conclusions::We developed the EPLR and EPLT models to screen populations with a high risk of developing BC. These can serve as useful tools to aid in risk-stratified screening and BC prevention.

Objective:To study the clinical characteristics，diagnosis，treatment and prognosis of neonatal appendicitis.Methods:From January 2019 to December 2022，19 neonates with appendicitis（appendicitis group）and 38 neonates with sepsis（sepsis group）admitted to the Neonatal Department of Xi'an Children's Hospital Affiliated to Xi'an Jiaotong University were studied.The characteristics of clinical manifestation，imaging，treatment and prognosis of neonates in two groups were analyzed,retrospectively.Results:Among 19 neonates with appendicitis，31.6% were premature，the mean birth weight was（2 927.9±796.2）g，male∶female=2.17∶1.Abdominal distention（8/19，42.1%）and fever（8/19，42.1%）were the first symptoms of appendicitis，and the first symptoms of sepsis were mainly fever（20/38，52.6%）and poor reaction（7/38，18.4%）.In the appendicitis group，the proportions of abdominal distension（89.5% vs. 5.3%），vomiting（36.8% vs. 2.6%），breast resistance（84.2% vs. 39.5%），mental reaction changing（94.7% vs. 71.1%）and abdominal positive signs（84.2% vs. 5.3%）were significantly higher than those in sepsis group（ P<0.05）.C-reactive protein（CRP）was elevated in 16 neonates with appendicitis and 13 neonates with sepsis，and elevated gradually in 14 neonates with appendicitis. Compared with sepsis group，CRP was higher in appendicitis group（ P<0.05）.Fifteen（78.9%）neonates with appendicitis were diagnosed only by ultrasound，mainly manifested as low echo area or liquid dark area in the right abdomen，thickening of the appendix wall or effusion in the cavity，and liquid exudation.Three（15.8%）neonates with appendicitis were diagnosed by ultrasound and CT.Eight（42.1%）neonates with appendicitis were complicated appendiceal perforation.Fifteen neonates with appendicitis were treated by conservative treatment，four cases were treated by operation，and all of them were cured and discharged. Conclusion:Abdominal ultrasonography should be improved as soon as possible in neonates with fever and septicemia，especially those with abdominal symptoms or signs，or CRP increased during treatment，and CT or surgical exploration if necessary,to confirm the diagnosis of neonatal appenditis and early treatment.

OBJECTIVE To study the effects of disodium cantharidinate on the pharmacokinetic behavior of capecitabine in rats. METHODS Rats were randomly divided into two control groups and two experimental groups with 6 rats in each group. Two control groups were intraperitoneally injected with normal saline， and two experimental groups were intraperitoneally injected with Disodium cantharidinate injection of 0.5 mL/kg， for 7 consecutive days. Eight days after medication， control group 1 and experimental group 1 were given capecitabine 5 mg/kg intragastrically， while control group 2 and experimental group 2 were given capecitabine 5 mg/kg intravenously. Blood samples were collected at different time points after administration. After extraction with ethyl acetate， the concentration of capecitabine in rat plasma was determined by UPLC-MS/MS method using tolbutamide as the internal standard. The pharmacokinetic parameters were calculated by DAS 2.0 software. RESULTS Compared with control group 1， MRT0－∞， cmax， AUC0－30 h， AUC0－∞ and F of experimental group 1 were increased significantly， while CLz/F was decreased significantly （P＜0.01）. Compared with control group 2， t1/2， MRT0－30 h， MRT0-∞， AUC0－30 h and AUC0－∞ of experimental group 2 were increased significantly （P＜0.01）. CONCLUSIONS Disodium cantharidinate can increase the plasma exposure of capecitabine in rats， improve its oral bioavailability， prolong the average residence time， and reduce its clearance rate.

Objective:To study the clinical and genetic characteristics of Wiskott-Aldrich syndrome (WAS) in neonates.Methods:From January 2016 to August 2022, neonates with WAS admitted to the neonatal department of our hospital were studied.Their clinical features, laboratory findings, genetic characteristics and clinical outcomes were retrospectively analyzed.Results:A total of 11 neonates(all male) were included. The mothers of 3 neonates had thrombocytopenia during pregnancy. The presenting symptoms included isolated bloody stool (4 cases), jaundice (3 cases), bloody stool with petechiae, bloody stool with hematemesis, cough and fever(1 case each). Eczema appeared from 6 d to 3 months after birth and in 6 cases during the neonatal period. None of the 11 cases had serious infection during the neonatal period. 9 cases had infection from 8 d to 5 months and 2 cases had not been infected until the last follow-up. Genetic sequencing showed four frameshift variants(c.30dupC, c.205dupT, c.1340_1343dupC and c.673_674delA), four nonsense variants(c.37C>T, c.295C>T, c.889C>T and c.823G>T) and three missense variants(c.134C>T, c.397G>A and c.341T>C). Pedigree verification of variants found 10 cases were inherited from their mothers and 1 case was de novo variant.Conclusions:WAS is characterized by bloody stool and eczema in the neonatal period, mostly without serious infections and lacking specific manifestations. Genetic screening for early identification of unexplained thrombocytopenia in male newborns should be performed as early as possible.

Objective:To explore the effect of educational intervention based on timing theory on mothers of premature infants.Methods:Using the convenience sampling method, 80 mothers of premature infants hospitalized in the Neonatology Department of Affiliated Hospital of Youjiang Medical University for Nationalities from May 2019 to October 2020 were included in this study. According to the time of admission, they were divided into the control group (42 cases) and the observation group (38 cases). The mothers in the control group were given routine educational guidance during the hospitalization of premature infants, while the mothers in the observation group were given comprehensive educational intervention based on timing theory on the basis of the control group. The mothers′ caring ability during the transition period, breastfeeding self-efficacy and breastfeeding rate at a month after discharge, and mother′s coping ability at 3 months after discharge were compared between the two groups.Results:There were 35 cases in each group completed the study. The observation group scored (100.86 ± 6.22) on the maternal care ability of premature infants in transition period, and the control group scored (89.51 ± 4.17), the difference between the two groups was statistically significant ( t=-8.97, P<0.05). The breastfeeding self-efficacy score of the observation group a month after discharge from hospital was (47.83 ± 2.54) points, which was higher than (41.20 ± 1.97) points of the control group, and the difference was statistically significant ( t=-12.21, P<0.05). The breastfeeding rate a month after discharge in the observation group was 62.9% (22/35), which was higher than 37.1% (13/35) in the control group, and the difference was statistically significant ( χ2=4.63, P<0.05). The maternal coping ability scores of the premature infants in the observation group and control group 3 months after discharge were (119.29 ± 6.03) and (113.66 ± 6.59) points respectively, and the difference between the two groups was statistically significant ( t=-3.73, P<0.05). Conclusions:The educational intervention based on timing theory can help mothers of premature infants master the nursing knowledge and skills, strengthen the mother′s transitional care ability and post-discharge coping ability, improve the breastfeeding self-efficacy and breastfeeding rate of premature infants, promote and development the growth of premature infants, worthy of clinical application.

Congenital hypothyroidism usually has no specific clinical symptoms in the neonatal period, which can be detected early through newborn screening, and early thyroid hormone replacement therapy can improve the prognosis.Congenital hypothyroidism is associated with the thyroid hypoplasia, thyroid hormone synthesis disorder, low response of thyroid or target organs and central hypothyroidism.With the development of genomics and second-generation gene sequencing, more and more monogenic mutations have been reported to be associated with this disease.The review of CH caused by monogenic mutation is aimed at comprehensively assessing the condition of neonates with CH, providing individualized treatment, guiding long-term follow-up and improving prognosis.

Objective:To investigate the relationship between single nucleotide polymorphism (SNPs) of Zeste homolog enhancer 2 (EZH2) gene and the risk of breast cancer.Methods:Recruiting 1 039 breast cancer patients and 1 040 controls at 22 referral hospitals nationwide in China, the genotype distribution of 3 SNPs loci of EZH2 genes was observed to detect the correlation between different genotypes and the risk of breast cancer genotypes EZH2 expression in breast cancer tissues and its correlation with patient prognosis were analyzed using breast cancer data from the database.Results:EZH2 rs6464926 CC genotype was compared with TT genotype (TT vs. CC: OR=1.362, 95% CI: 1.063-1.746, P=0.015) and dominant model (TC+TT vs .CC: OR=1.22, 95% CI: 1.004-1.483, P=0.045) .In women with BMI ≥24 kg/m 2, the TC genotype ( P=0.050), TT genotype ( P=0.025) and dominant model (TC+TT, P=0.021) of rs6464926 locus were significantly different from CC genotype in cancer risk. rs6464926 was correlated with EZH2 gene expression ( P=6.89E-47). EZH2 gene is highly expressed in breast cancer tissues, and patients with high expression were associated with shorter OS ( HR=1.27, P=0.013), DMFS ( HR=1.37, P<0.01), and RFS ( HR=1.44, P<0.01). Conclusions:The polymorphism rs6464926 of EZH2 gene is associated with breast cancer susceptibility in Chinese women. rs6464926 might regulate breast cancer risk and prognosis by changing EZH2 expression.