1.Study on the Clinical Significance of Serum Interleukin-6 Levels in the Patients of Respiratory Infection and Cancer
Weimin WANG ; Yuyin PANG ; Weitong MA
Journal of Chinese Physician 2002;0(S1):-
Objective To understand the clinical significance and diagnosis value of serum interleukin-6(IL-6) levels in the patients with respiratory infection and non-small cell lung cancer(NSCLC).Methods The serum levels of IL-6 in 61 patients with NSCLC,and 36 patients with respiratory infection and 30 of the healthy was measured by enzyme-linked immunosorbent assay(ELISA).Results The data showed that mean serum IL-6 levels in patients with NSCLC was higher than in the healthy( P 0 05).Conclusion We consider that increased IL-6 level could be used as one of differential diagnostic marker of NSCLC;Serum IL-6 levels may be a reference of judging each stage of NSCLC and predicting prognosis.
2.Effect of di-(2-ethylhexyl)phthalate and its metabolite mono(2-ethylhexyl)phthalate on spermatogenic cell apoptosis in young male Wistar rats.
Junjie YANG ; Hong MA ; Jing LI ; Hong LIU ; Weitong ZHANG ; Yongzheng ZHOU ; Peng ZHAO
Journal of Southern Medical University 2012;32(12):1758-1763
OBJECTIVETo explore the influences of di-(2-ethylhexyl)phthalate (DEHP) and its principle metabolite mono(2-ethylhexyl)phthalate (MEHP) on spermatogenic cell apoptosis in young male Wistar rats.
METHODSNinety-eight 2-week-old male Wistar rats were randomly divided into 14 equal groups to receive daily intragastric administration of 0.2 ml/kg normal saline for 3 weeks (normal control), 100 mg/kg cyclophosphamide (CTX) for 1 week (positive control), 100, 200, and 300 mg/kg DEHP or MEHP for 1 week, or 100 mg/kg DEHP or MEHP for 1, 2, and 3 weeks. After the treatments, the pathological changes of the testicular tissues were examined, spermatogenic cell apoptosis was detected, and serum sex hormones levels were measured using TUNEL assay or radioimmunoassays.
RESULTSCTX, DEHP, and MEHP all caused shrinkage, development retardation and quantitative reduction of spermatogenic cells with and mitochondrial swelling vacuolar changes. The damage of spermatogenic cells increased significantly with the increment of DEHP and MEHP doses and exposure time. Both DEHP and MEHP treatments resulted in significantly increased cell apoptosis index (AI) in close correlation with the exposure doses and duration (P<0.01). DEHP and MEHP treatments also significantly increased serum levels of follicle stimulating hormone and luteinizing hormone and decreased testosterone levels in a dose- and time-dependent manner (P<0.05).
CONCLUSIONDEHP and MEHP can induce obvious apoptosis of spermatogenic cells in young male rats with a dose- and time-dependent effect.
Animals ; Apoptosis ; drug effects ; Diethylhexyl Phthalate ; analogs & derivatives ; toxicity ; Dose-Response Relationship, Drug ; Environmental Exposure ; Male ; Rats ; Rats, Wistar ; Spermatozoa ; cytology ; drug effects
3.Analysis of clinical characteristics and genetic variants in two pedigrees affected with Autosomal dominant intellectual developmental disorder 49
Yuqiang LYU ; Yanqing ZHANG ; Ning LI ; Kaihui ZHANG ; Min GAO ; Jian MA ; Weitong GUO ; Yi LIU ; Zhongtao GAI
Chinese Journal of Medical Genetics 2024;41(11):1296-1301
Objective:To explore the clinical and genetic features of two Chinese pedigrees affected with Autosomal dominant intellectual developmental disorder 49 (MRD49).Methods:Two MRD49 pedigrees which were admitted to the Children′s Hospital Affiliated to Shandong University respectively on January 28, 2021 and November 10, 2022 were selected as the study subjects. Clinical data of the two pedigrees were collected and analyzed. Genomic DNA was extracted from peripheral blood samples of the probands and their family members. The probands were subjected to mutational analysis by high-throughput sequencing. Candidate variants were validated using real-time fluorescence quantitative PCR (q-PCR) or Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethics Committee of the Children′s Hospital Affiliated to Shandong University (No. SDFE-IRB/T-2022002).Results:Proband 1 had presented with language delay, motor retardation and intellectual disability, and his maternal grandmother, mother, aunt and cousin all had various degrees of intellectual disability. Sequencing results showed that proband 1 had deletion of exons 3 ~ 7 of the TRIP12 gene. q-PCR verification showed that his mother, aunt, maternal grandmother and cousin had all harbored the same deletion. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+ PM2_Supporting+ PP1). Proband 2, who had mainly presented with language delay, motor retardation and intellectual disability, and was found to harbor a heterozygous c.3010C>T (p.Arg1004*) variant of the TRIP12 gene, which was verified to be de novo in origin. Based on the guidelines from the ACMG, the variant was classified as pathogenic (PVS1+ PS2+ PM2_Supporting). Conclusion:This study had diagnosed two MRD49 families through high-throughput sequencing. Above findings have enriched the phenotypic and mutational spectrum of MRD49 in China, which has also facilitated genetic counseling for the two pedigrees.