BACKGROUND: The angiotensin-converting enzyme (ACE) is the important component of the renin-angiotensin-aldosterone system (RAS). The ACE gene has, in fact,insertion/deletion polymorphism in intron 16, consisting of a 287-base pair Alu repeat sequence. ACE gene heterozygotes insertion/deletion (I/D) polymorphism is correlated with cardiovascular disease and IgA nephropathy and other diseases. OBJECTIVE: To investigate the distribution of ACE gene I/D polymor-phism in Chinese Han population in comparison with other known ethnic populations. DESIGN: Observation study on healthy individuals of Han nationality. SETTING: Key Laboratory of Clinical Immunology of Jiangsu Province; Department of Laboratory Medicine, First Hospital Affiliated to Soochow University; Department of aboratory Medicine, College of Medical Technology of Jiangsu University PARTICIPANTS: Totally 241 healthy individuals who received the healthy examination in the First Hospital of Soochow University between December 2005 and January 2006 were recruited in the experiment. They were 152 male and 89 female , with mean age of (27±8)years. All the participants without blood relationship were Han nationality from Suzhou region in China, free from disorder of hepatic, renal, endocrine and cardio- cerebrovascular diseases which were confirmed by clinical and experimen- tal examination. METHODS: Genotype of ACE gene I/D polymorphism allele of 241 healthy individuals of Han nationality was detected with polymerase chain reaction (PCR). PCR purified products with genotype of deletion/deletion (DD) and insertion/insertion (Ⅱ) polymorphism were performed DNA sequencing with fluorescence-labeled end termination method. MAIN OUTCOME MEASURES: Genotype and allele frequency of ACE gene I/D, as well as the comparison between them and those of other ethnic population. RESULTS: All the 241 subjects participated in final result analysis. ① The genotypes of ACE were DD, Ⅱ and ID. Compared with allele Ⅰ, allele D lost 287-base pair Alu repeat sequence. ②The frequencies of genotype Ⅱ, ID and DD were 46.1％, 41.5％ and 12.4％ respectively, with an allelic frequency of 66.8％ for allele Ⅰ and 33.2％ for allele D. ③The distribution of ACE genotype was similar between Japanese and Han nationality crowd, both presenting that type Ⅱ was commonly seen and type DD was the least; ID was mostly found in European and American crowd, but Ⅱ was little found. There was racial diversify of frequency of the distribution of ACE genotype among individuals of Han nationality and Japanese as well as Europeans and Americans. Compared with other nationalities, allele Ⅰ of individuals of Han nationality was significantly higher than that of above nationalities (χ2=105.55,P ＜ 0.01), but allele D was obviously lower (χ2=87.54,P ＜ 0.01). CONCLUSION: ACE gene polymorphism has racial diversify. To know genetic features of ACE gene polymorphism of individuals of different na tionalities is the basis and prerequisite to study the correlation of ACE gene I/D polymorphism with diseases.

Background and purpose:The incidence of hepatoma is high. The outcome of treatment on hepatoma is poor.So we investigated the effect and mechanism of a selective cyclooxygenase-2 inhibitor celecoxib on the proliferation and apoptosis of SMMC-7721 hepatoma cell line. Methods:MTT assay was used to study the inhibitive effect of celecoxib on the growth of SMMC-7721 hepatoma cell. The effect of celecoxib on cell cycle and apoptosis on cells was studied by flow cytometry(FCM).Transmission electron microscopy (TEM) was used to display the morphological change of the SMMC-7721 hepatoma cell . The biochemical character of apoptosis was viewed on the agarose gel electrophoresis.The expression of bax gene and bcl-2 gene were measured by immunohistochemistry.Results:The SMMC-7721 cells were cultured in media that contained 25,50,75,100 ?mol/L celecoxib,by means of MTT, the inhibition rate was(15?3)%,(34.6?2.4)%,56.8?1.0)%,(86.2?0.4)% respectively after 24 hours; but the inhibition rate was (33.4?0.7)%,(66.7?1.8)%,(76.1?2.4)%,(97.3?0.8)% respectively after 48 hours(P

Objective: Non-small-cell lung cancer (NSCLC) patients with epidermal growth factor receptor (EGFR)-activating mutations have higher response rate and more prolonged survival following treatment with single-agent EGFR tyrosine kinase inhibitor (EGFR-TKI) compared with patients with wild-type EGFR. However, all patients treated with reversible inhibitors develop acquired re-sistance over time. The mechanisms of resistance are complicated. The lack of established therapeutic options for patients after a failed EGFR-TKI treatment poses a great challenge to physicians in managing this group of lung cancer patients. This study evaluates the in-fluence of EGFR-TKI retreatment following chemotherapy after failure of initial EGFR-TKI within at least six months on NSCLC pa-tients. Methods:The data of 27 patients who experienced treatment failure from their initial use of EGFR-TKI within at least 6 months were analyzed. After chemotherapy, the patients were retreated with EGFR-TKI (gefitinib 250 mg qd or erlotinib 150 mg qd), and the tumor progression was observed. The patients were assessed for adverse events and response to therapy. Targeted tumor lesions were as-sessed with CT scan. Results:Of the 27 patients who received EGFR–TKI retreatment, 1 (3.7%) patient was observed in complete re-sponse (CR), 8 (29.6%) patients in partial response (PR), 14 (51.9%) patients in stable disease (SD), and 4 (14.8%) patients in progres-sive disease (PD). The disease control rate (DCR) was 85.2%(95%CI=62%-94%). The median progression-free survival (mPFS) was 6 months (95%CI=1-29). Of the 13 patients who received the same EGFR-TKI, 1 patient in CR, 3 patients in PR, 8 patients in SD, and 2 patients in PD were observed. The DCR was 84.6%, and the mPFS was 5 months. Of the 14 patients who received another EG-FR-TKI, 0 patient in CR, 6 patients in PR, 6 patients in SD, and 2 patients in PD were observed. The DCR was 85.7%, and the mPFS was 9.5 months. Significant difference was found between the 2 groups in progression-free survival but not in response rate or disease control rate. Conclusion:Retreatment of EGFR-TKIs can be considered an option after failure of chemotherapy for patients who were
previously controlled by EGFR-TKI treatment.

Objective:To evaluate the safety and efficacy of sequential consolidation thoracic radiotherapy after first-line chemotherapy combined with immunotherapy for extensive-stage small cell lung cancer (SCLC).Methods:A retrospective analysis of patients with extensive-stage SCLC admitted to Jiangsu Cancer Hospital from January 2019 to September 2022 was conducted. Patients who achieved effective chemotherapy combined with immunotherapy received sequential consolidation thoracic radiotherapy. The safety was evaluated according to the common terminology criteria for adverse events (CTCAE) 5.0 standard, and the overall survival (OS) and progression-free survival (PFS) were analyzed by Kaplan-Meier method.Results:A total of 33 patients were enrolled, with a median age of 66 years (range, 50-79 years). The median follow-up time was 20 months (range, 3-33 months). Fifteen patients (46%) had disease progression, and 12 patients (36%) died. The toxicities mainly included leukopenia, thrombocytopenia, radiation esophagitis, anorexia, and fatigue, etc. Six patients (18%) had grade 4 hematological toxicity, mainly leukopenia. One patient (3%) had grade 3 radiation pneumonitis, and 3 patients (9%) had grade 1-2 radiation pneumonitis. No grade 5 toxicity was observed in all patient groups. The median PFS was 12 months (95% CI=3.9-20.1). The 6-month, 1-year, and 2-year PFS rates were 78%, 49.6%, and 35.6%, respectively. The median OS was 23 months (95% CI=15.98-30.01). The 6-month, 1-year, and 2-year OS rates were 86.2%, 74.5%, and 47.2%, respectively. Conclusions:Sequential consolidation thoracic radiotherapy after first-line chemotherapy combined with immunotherapy is a safe protocol for extensive-stage SCLC. It brings survival benefits to patients by increasing PFS and OS rates.

Objective:To study the genetic profile of neonatal hyperbilirubinemia with unknown etiology in Guangdong Province and the clinical significance of jaundice-related genetic screening.Methods:From July to September, 2021, neonates with hyperbilirubinemia of unknown etiology born in different hospitals in Guangdong Province were studied. 24 neonatal jaundice-related exons were sequenced using targeted capture and high-throughput sequencing technology. The pathogenic variants were analyzed.Results:A total of 331 cases, 139 (42.0%) cases showed positive screening results with five diseases, including 65 (19.6%) cases of Gilbert syndrome, 48 (14.5%) cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency,18 (5.4%) cases of sodium taurocholate cotransporting polypeptide deficiency, 4 (1.2%) cases of Citrin deficiency and 4 (1.2%) cases of Dubin-Johnson syndrome. 149 (45.0%) cases carried one or more genetic variants and 43 (13.0%) cases showed no clinically significant variants. The 8 high-frequency mutation loci (carrier rate >1%) are UGT1A1 gene c.211G>A and c.1091C>T, G6PD gene c.1466G>T and c.1478G>A, SLC10A1 gene c.800C>T, SLC25A13 gene c.852_855del TATG, HBB gene c.126_129delCTTT and c.316-197C>T.Conclusions:Genetic factors are important for neonatal hyperbilirubinemia with unknown etiology in Guangdong. The common pathogenic genes are UGT1A1, G6PD, SLC10A1, and SLC25A13 and the population carries high-frequency mutation loci. Therefore, genetic screening in neonates with hyperbilirubinemia of unknown etiology has important clinical significance.