Objective:To evaluate the diagnostic value of gene testing in familial hypercholesterolemia (FH) in patients with premature myocardial infarction(PMI).Methods:This study was a single center cross-sectional study. A retrospective analysis was made on PMI patients who visited the People′s Hospital of Peking University from May 1, 2015 to March 31, 2017. Clinical data of patients was collected and gene testing of FH related genes low density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type 9 (PCSK9), apolipoprotein B(APOB) and low density lipoprotein receptor adaptor protein 1(LDLRAP1) was carried out. Clinical diagnosis of FH patients was performed using Simon Broome criteria, DLCN criteria, and FH Chinese expert consensus.Results:There were 188 males (83.6%) among 225 PMI patients, and the age of the first myocardial infarction was (46.6±7.2) years old. Ten patients carried FH pathogenic or possibly pathogenic mutations (4.4%). Compared with Simon Broome standard, DLCN standard and FH Chinese expert consensus, gene testing increased the diagnostic rate of FH by 53.3%, 33.3% and 42.1% respectively.Conclusion:Gene testing is helpful to improve the diagnosis of FH, and it is important to start the standard treatment of FH as early as possible in patients with premature myocardial infarction.

Objective:To investigate the clinical diagnostic value of MRI retention enema cannula enhanced scanning in the high complex anal fistula.Methods:The clinical data of 60 anal fistula patients underwent surgery treatment from May 2020 to May 2022 in Affiliated Hospital of Shanxi University of Traditional Chinese Medicine were retrospectively analyzed. All patients underwent MRI plain scanning and enhanced scanning before operation. Compared with the surgical results, the difference between MRI plain scanning and enhanced scanning in the diagnosis of high complex anal fistula was compared.Results:All of the 60 patients successfully completed surgical treatment, and 58 cases internal orifices, 55 cases complex anal fistulas and 53 cases high anal fistulas were found intraoperatively. MRI plain scanning results showed 32 cases internal orifices, 46 cases complex anal fistulas and 42 cases high anal fistulas were found. MRI enhanced scanning results showed 54 cases internal orifices, 53 cases complex anal fistulas and 50 cases high anal fistulas were found. Based on surgical results, the coincidence rates of internal orifice, complex anal fistula and high anal fistula in MRI enhanced scanning were significantly higher than those in MRI plain scanning: 93.10% (54/58) vs. 55.17% (32/58), 96.36% (53/55) vs. 83.64% (46/55) and 94.34% (50/53) vs. 79.25% (42/53), and there were statistical differences ( χ2 = 21.76, 4.95 and 5.27; P<0.01 or <0.05). Conclusions:The MRI retention enema cannula enhanced scanning has obvious advantages in the diagnosis of high complex anal fistula, which provides scientific reference value for the diagnosis and operation of high complex anal fistula in clinic.

Objective: To explore the delay in the first diagnosis of tuberculosis patients in Macheng City from 2016 to 2018 and its influencing factors, so as to provide scientific basis for tuberculosis control. Methods A retrospective survey (face-to-face interview) was conducted on 372 new smear positive TB patients registered in the TB special report system of China's disease prevention and control information system from 2016 to 2018, Then the influencing factors of first visit delay were analyzed by single factor analysis and multi factor Logistic regression analysis. Results Among the 372 TB patients, 230 were delayed in the first diagnosis, the delay rate of the first diagnosis was 61.83%, the median delay time of the first diagnosis was 17.0d, and the average delay time was 37.74d.Multivariate logistic regression analysis showed that family financial difficulties (OR = 31.609, 95% CI: 7.240-138.010), no time (OR= 9.597, 95% CI: 2.014-45.729), not care (OR= 13.232, 95% CI: 2.978-58.804), Far away from the clinic (OR= 15.374, 95% CI: 2.896-81.616), non-agricultural occupational (OR = 31.4439, 95% CI: 4.398-224.8049), first visit in township (OR = 0.171, 95% CI: 0.037-0.785), the difference was statistically significant (P < 0.05) ,However, there was no significant difference in the first visit delay rate between different genders (P > 0.05). Conclusion The first diagnosis delay rate of tuberculosis patients in Macheng City is high, some effective measures should be taken to minimize the first visit of TB patients.

Objective:To screen the differentially expressed exosomal miRNAs derived from liver cancer stem cells (LCSCs) and its effect on the malignant biological characteristics of liver cancer cells.Methods:miRNA expression profile chip was used to analyze the differentially expressed exosomal miRNA derived from LCSCs. The effects of miRNA on malignant phenotypes of LCSCs were identified. The cells were further treated with doxorubicin at different concentrations (0, 150, 300 μmol/L), and the expression level of miR-196a was detected by quantitative real-time PCR (qRT-PCR). The apoptosis of liver cancer cells cultured by exosomes derived from LCSCs (Exo-NC group) and exosomes derived from miR-196a inhibited LCSCs (Exo-Inhibitor group) and the activity of caspase3/7 under the action of exosomes from LCSCs were detected. Nude mice were randomly divided into Do-PBS group, Do-Exo-Inhibitor group and Do-Exo-NC group using random number table method, with 5 mice in each group, and the effect of miR-196a on nude mice xenograft tumor model with liver cancer cells was analyzed.Results:In this study, exosomes were isolated and purified from CD133 + Huh7 stem cell culture supernatant. miR-7162-3p, miR-1910-5, miR-3613-3p, miR-196a and miR-155-5p were up-regulated, while miR-1246 and miR-3613-5p were down-regulated. miR-7162-3p, miR-196a and miR-155-5p in exosomes had important effects on the self-renewal ability of LCSCs. miR-1910-5p, miR-196a and miR-155-5p had important effects on the invasion ability of liver cancer stem cells, among which miR-196a had the most significant inhibitory effect. Treatment for 24 h, the miR-196a expression level of the 0, 150 and 300 μmol/L doxorubicin was 0.96±0.05, 1.23±0.05 and 2.33±0.03 respectively, with a statistically significant difference ( F=996.90, P<0.001). Treatment for 48 h, the miR-196a expression level of the 0, 150 and 300 μmol/L doxorubicin were 1.02±0.07, 2.35±0.05 and 2.89±0.55 respectively, with a statistically significant difference ( F=303.00, P<0.001). When the concentration of doxorubicin was 0 and 300 μmol/L, the apoptosis rates of the Exo-NC group were 9.37%±0.19% and 11.64%±0.27%, and those of the Exo-Inhibitor group were were 18.80%±1.91% and 22.79%±1.57%, with statistically significant differences ( t=4.41, P=0.048; t=4.96, P=0.038). When doxorubicin was not used, the ratios of caspase3/7 in the Exo-NC group at 24 h and 48 h were 0.94±0.08 and 0.97±0.09, and those in the Exo-Inhibitor group were 1.56±0.01 and 1.58±0.01, with statistically significant differences ( t=11.41, P=0.008; t=6.07, P=0.026). Under 300 μmol/L doxorubicin, the ratios of caspase3/7 in the Exo-NC group at 24 h and 48 h were 0.95±0.07 and 1.36±0.08, and those in the Exo-Inhibitor group were 2.84±0.08 and 3.20±0.14, with statistically significant differences ( t=24.20, P=0.002; t=15.78, P=0.004). The results of xenograft tumor in nude mice showed that the tumor volumes of Do-PBS, Do-Exo-Inhibitor and Do-Exo-NC groups increased successively, which were (1 051.86±89.90) mm 3, (1 310.91±86.66) mm 3 and (2 185.14± 352.34) mm 3 respectively, with a statistically significant difference ( F=30.28, P<0.001). The weights of the transplanted tumors in the 3 groups increased successively, which were (0.36±0.10) g, (0.39±0.12) g and (0.76±0.16) g respectively, with a statistically significant difference ( F=11.81, P=0.002). The expression of miR-196a in tumors was significantly decreased after miR-196a inhibitor transfection. The expression levels of the 3 groups were 1.05±0.16, 0.38±0.08 and 2.17±0.26, with a statistically significant difference ( F=48.93, P<0.001). Conclusion:The exosomal secreted by LCSCs can enhance the resistance of liver cancer cells to doxorubicin by miR-196a.

Objective To compare the clinical effect of whole brain radiotherapy (WBRT) for brain metastases from lung adenocarcinoma between patients with and without epithelial growth factor receptor (EGFR) mutations.Methods A retrospective analysis was performed for 89 patients with brain metastases from lung adenocarcinoma who were treated in our hospital from August 2010 to May 2015.EGFR testing was performed in all patients.WBRT (6-MV external X-ray beam) was performed at 30 Gy in 10 fractions or 40 Gy in 20 fractions;for patients with ≤3 brain metastases, simultaneous integrated boost intensity-modulated radiotherapy was performed at 40-45 Gy in 10 fractions or 50-60 Gy in 20 fractions.The response rate, intracranial progression-free survival (IPFS), and overall survival (OS) were compared between patients with EGFR mutations and patients with wild-type EGFR.The Kaplan-Meier method was used to calculate IPFS and OS, the log-rank test was used for survival difference analysis and univariate prognostic analysis, and the Cox model was used for multivariate prognostic analysis.Results For these 89 patients, the overall response rate was 62%, the median IPFS was 7.0 months (95%CI:6.060-7.940), and the median OS was 12.0 months (95%CI:9.539-14.465).The univariate and multivariate analyses showed that the response rate was associated with Karnofsky Performance Scale (KPS) score and EGFR mutation status (P=0.009 and 0.035);KPS score and EGFR mutation status were significant prognostic factors for IPFS (P=0.048 and 0.000);KPS score and primary tumor control were significant prognostic factors for OS (P=0.000 and 0.031).Conclusions After WBRT for brain metastases from lung adenocarcinoma, the patients with EGFR mutations have a higher response rate and a longer IPFS compared with those with wild-type EGFR, but there is no significant in OS between the two groups of patients.

Objective: To investigate the relationship between the status of epidermal growth factor receptor (EGFR) mutations and brain metastases in patients with lung adenocarcinoma. Methods: From August 2010 to May 2015, a total of 1 063 lung adenocarcinoma patients with identified status of EGFR mutations in Shanxi Cancer Hospital were enrolled, of which 456 patients had EGFR mutations. Multivariate Logistic regression model was used to analyze the correlation between EGFR mutation status and brain metastases in patients with lung adenocarcinoma. Results: In 125 patients with brain metastases before initial treatment, 65 patients had EGFR mutations, including 36 patients with deletion mutations in exon 19. The frequency of EGFR 19 exon mutation was 28.8% (36/125). Among 456 patients with EGFR mutations, 65(14.3%) patients were with brain metastases, in which 36(55.0%) had deletion mutations in exon 19. The multivariate analysis showed that age, Eastern Cooperative Oncology Group (ECOG) score, EGFR mutations and N staging were associated with brain metastases(P<0.05). Further subgroup multivariate analyses showed that age, ECOG score, mutation status in exon 19 and N staging were associated with brain metastases (P<0.05). Conclusions EGFR mutation status is related to brain metastases. Mutations in EGFR exon 19 is an independent risk factor for brain metastases.

Objective To determine the influencing factors on informed consent associated with decline or delay of primary percutaneous coronary intervention (PCI) in patients with acute ST-segment elevation myocardial infarction(STEMI).Methods This study was conducted in Peking University People′s Hospital from 1 August, 2014 to 31 March, 2016, with 229 consecutive cases of acute STEMI enrolled in the study.Data were collected by reviewing medical records and STEMI treatment time records.180 patients with ischemic symptoms ≤12 hours were included in the final analysis.Patients were divided into the consent group and the refusal group according to the final decision.For patients who received primary PCI, they were further categorized into two groups based on the 30min cut-off time.Results Among the 180 STEMI patients reviewed, 139 patients agreed to primary PCI and the remaining 41 patients refused primary PCI.Multivariate logistic analysis showed that symptom relief (OR 5.532, 95% CI 1.165-26.278, P=0.031) and history of chronic kidney disease (OR 4.786, 95% CI 1.346-17.011, P=0.016) were predictors of dissent of primary PCI.Self-rated symptoms severity (OR 0.094, 95% CI 0.034-0.260, P<0.001)was predictor of consent to primary PCI.106 patients had complete time point records of informed consent in the consent group (n=139).Among these patients, the median informed consent delay was 24 min.64 patients made a decision within 30 minutes, and the other 42 patients had their decision made beyond 30 minutes.Symptom-to-door time ≥4 hours (OR 4.563,95% CI 1.682-12.385, P=0.003) was independent predictor of informed consent delay.Conclusions Patients with resolved symptoms, self-rated mild symptoms or renal insufficiency were more inclined to refuse primary PCI.For patients who eventually received primary PCI, symptom-to-door time ≥4 hours was the independent predictor of informed consent delay.

In recent years , there are increasing articles concerning Epstein-Barr virus associated lymphoproliferative disorder (EBV+LPD), and the name of EBV +LPD is used widely.However,the meaning of EBV+LPD used is not the same , which triggered confusion of the understanding and obstacles of the communication.In order to solve this problem.Literature was reviewed with combination of our cases to clarify the concept of EBV +LPD and to expound our understanding about it .In general, it is currently accepted that EBV +LPD refers to a spectrum of lymphoid tissue diseases with EBV infection , including hyperplasia , borderline lesions , and neoplastic diseases .According to this concept , EBV+LPD should not include infectious mononucleosis ( IM ) and severe acute EBV infection ( EBV +hemophagocytic lymphohistiocytosis, fatal IM, fulminant IM, fulminant T-cell LPD), and should not include the explicitly named EBV+lymphomas ( such as extranodal NK/T cell lymphoma , aggressive NK cell leukemia , Burkitt lymphoma, and Hodgkin lymphoma , etc.) either.EBV +LPD should currently include: ( 1 ) EBV +B cell-LPD:lymphomatoid granulomatosis , EBV +immunodeficiency related LPD , chronic active EBV infection-B cell type, senile EBV +LPD, etc.(2) EBV +T/NK cell-LPD:CAEBV-T/NK cell type, hydroa vacciniforme, hypersensitivity of mosquito bite, etc.In addition, EBV+LPD is classified, based on the disease process , pathological and molecular data , as 3 grades:grade1, hyperplasia ( polymorphic lesions with polyclonal cells ); grade 2, borderline ( polymorphic lesions with clonality ); grade 3, neoplasm (monomorphic lesions with clonality).There are overlaps between EBV +LPD and typical hyperplasia, as well as EBV+LPD and typical lymphomas .However , the most important tasks are clinical vigilance , early identification of potential severe complications , and treating the patients in a timely manner to avoid serious complications , as well as the active treatment to save lives when the complications happened .

objective To investigate the recurrence of stroke,clinical prognosis and vascular changes in patients with ischemic stroke due to middle cerebral artery stenosis. Methods The ischemic stroke patients with symptomatic middle cerebral artery stenosis were enrolled continuously and followed up prospectively for six months. The recurrence of ipsilateral stroke,clinical prognosis and dynamic changes of vessels were analyzed. Results Eighty patients were included,and 20.0% of the patients(16 cases)presented with recurrence of ipsilateral ischemic stroke and 56 cases (70.0%)with a good outcome(modified Rankin scale[mRS]≤1)during the 6 months follow-up;38.6% patients (27 cases) presented with significant vascular changes with progression in 12 cases (17.1%)and regression in 15 cases (21.4%). Conclusion The patients with simple symptomatic middle cerebral artery stenosis have an high rate recurrence of ipsilateral stroke but have good prognosis;Lesioned artery of the majority of patients in the short period after stroke was stable,but vascular stenosis in some patients could appear progression or remission.