ABSTRACT
Objective@#To explore the relationship between the clinical and genetic features of a short-statured azoospermia male with the karyotype of 45,X.@*METHODS@#Using GTG-banded chromosome analysis, we performed karyotyping for a 150 cm-high infertile male with azoospermia and investigated the presence and location of the genes on the Y chromosome by FISH and PCR.@*RESULTS@#GTG-banded chromosome analysis showed the karyotype of the patient to be 45,X,add(14)(p11). The results of PCR manifested the deletion of AZFa, AZFb, AZFc, and AZFd in the SRY gene. FISH revealed the translocation of the short arm of the Y chromosome to that of chromosome 14 and deletion of most proportions of its long arm, with the disruption site close to the centromere region. The karyotype of the patient was 45,X,der(Y)t(Y;14)(q11;q11.2), 14.ish (SRY+, CEP Y+ , DYZ1－).@*CONCLUSIONS@#The karyotype of the patient was unbalanced Y/14 translocation. The SRY gene is the key to maleness. The deletion of AZFa－ d induces spermatogenic disturbance, and the deletion of the q arm of the Y chromosome may be related with short stature.
Subject(s)
Humans , Male , Azoospermia , Genetics , Chromosome Banding , Chromosome Deletion , Chromosomes, Human, Pair 14 , Genetics , Chromosomes, Human, Y , Genetics , Gonadal Dysgenesis , Genetics , Infertility, Male , Genetics , Karyotyping , Methods , Polymerase Chain Reaction , SOXB1 Transcription Factors , Genetics , Translocation, Genetic , GeneticsABSTRACT
Objects To explore the association of ulcerative colitis (UC) with the imbalance between Th1,Th 2 and Th17 cells in the colonic tissues.Methods A total of 41 UC patients and 52 controls was recruited in the present study.The real-time fluorescent quantitative PCR was applied for detecting the mRNA levels of Thl,Th2 and Th 17 cells-associated transcription factors T-bet,GATA-3 and RORγt and cytokines IFN-γ,IL-4 and IL-17A in the colonic tissues.Simultaneously,the expressions of IFN-γ,IL-4 and IL-17A in the colonic tissues were also examined by an immunohistochemical staining method.Results Compared with the controls,the mRNA expressions of GATA-3,RORγt and IL-17A were more significantly enhanced in UC patients (0.84 ± 0.24 vs.0.69 ± 0.22,P=0.002;0.99 ± 0.29 vs.0.83 ± 0.23,P=0.004;1.59 ± 0.65 vs.1.35 ± 0.43,P=0.035).According to the ＂Truelove and Witts Severity Index＂,those patients were divided into different subgroups.The mRNA expressions of GATA-3,RORγt,and IL-17A were shown to be higher in patients with moderate and severe UC than in those with mild UC (0.90 ± 0.18 vs.0.78 ± 0.16,P=0.030;1.11 ± 0.31 vs.0.87 ± 0.26,P=0.011;1.83 ± 0.64 vs.1.34 ± 0.66,P=0.020).Moreover,the immunohistochemistry results demonstrated that the IL-17A positive cells were positioned mainly in the intestinal epithelial layer and lamina propria.Compared to the controls,the mean integral optic density of IL-17A was significantly increased in the colonic tissues of UC patients (0.25 ± 0.07 vs.0.13 ± 0.03,P＜0.001).The similar results were obtained for IL-17A in patients with moderate and severe UC when compared to those with mild UC (0.31 ± 0.07 vs.0.19 ± 0.06,P＜0.001).In contrast to the controls,the mRNA ratios ofGATA-3/T-bet,RORγt/ T-bet and RORγt/GATA-3 were significantly higher in the tissues of colonic UC patients (1.12 ± 0.30 vs.0.96 ± 0.31,P=0.014;1.33 ± 0.37 vs.1.15 ± 0.33,P=0.015;1.44 ± 0.45 vs.1.20 ± 0.42,P=0.009),and in the patients,the mRNA ratios for GATA-3/T-bet,RORγt/T-bet and RORγt/GATA-3 were significantly higher in the patients with moderate and severe UC than in those with mild UC (1.27 ± 0.35 vs.1.00 ± 0.32,P＜0.001;1.45 ± 0.37 vs.1.19 ± 0.36,P=0.028;1.59 ± 0.43 vs.1.28 ± 0.46,P=0.031).Conclusions These findings suggest that the imbalance between Thl,Th2 and Th17 cells in the colonic tissues may be implicated in UC.
ABSTRACT
In the present study, two new cyclic bisbibenzyls (1, 2) co-occuring with a known compound, isoplagiochins C (3) were isolated from Hebertus dicranus. The structures were determined mainly by extensive 1D and 2D NMR experiments, and the absolute configurations of 1 and 2 were established by the circular dichroism spectrum. Furthermore, all these three rare compounds were tested in vitro for inhibitory activity against the growth of human cancer cell lines (A549, HCT116, MDA-MB-231, and BEL7404) by the MTT assay, and compound 2 exhibited moderately inhibitory activity with IC50 values ranging from 13.89 to 31.62 μmol·L(-1). In conclusion, our results provided a basis for future development and modification of these compounds for cancer therapy.