Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter's syndrome patients with and without spermatogenesis

BACKGROUND: Mutations of the androgen receptor (AR) gene give rise to a wide array of phenotypic abnormalities. A systematic analysis of the AR gene in patients with 47,XXY has not previously been performed. METHODS: Mutations of the AR gene and expansion of the CAG repeats in exon 1 of the AR gene were studied in 13 patients with Klinefelter's syndrome either with (n = 1) or without (n = 12) spermatogenesis. RESULTS: No abnormalities in the AR gene were detected by single strand conformational polymorphism analysis. The CAG lengths ranged from 17 to 27 (mean +/- SD 22.8 +/- 3.3, median 23) for Klinefelter patients or from 17 to 28 (mean +/- SD 23.2 +/- 2.6, median 23) for control subjects. X-inactivation analysis for the methylation status of the AR gene was performed in seven patients who were heterozygous for CAG repeats of different length, showing that the longer CAG repeat alleles underwent random but more frequent inactivation in five patients and skewed inactivation in two. CONCLUSIONS: An AR gene abnormality does not constitute an important factor for impaired spermatogenesis in patients with Klinefelter's syndrome.     

Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study

BACKGROUND: Recent data emphasized the implication of polymerase gamma (POLG) CAG repeats in infertility, making it a very attractive gene for study. A comparison of POLG CAG repeats in infertile and fertile men showed a clear association between the absence of the usual 10-CAG allele and male infertility, excluding azoospermia. It has also been suggested that the POLG gene polymorphism should be considered as a possible contributing factor in unexplained couple infertility where semen parameters are normal. In this study, we investigated the POLG CAG repeats, in a well-defined population of patients with severe male factor infertility. METHODS: We conducted a large study of POLG CAG repeats in 433 infertile and 91 fertile, normozoospermic and healthy males. In all subjects, phenotypic data, including semen parameters, hormonal status and clinical profiles, were available. RESULTS: Thirteen 'homozygous mutants' (3%) were found among the 433 idiopathic infertile patients. The follow-up of the 13 'homozygous mutant' resulted in pregnancy for more than half of the couples, through assisted reproductive techniques or even spontaneously. In addition, one 'homozygous mutant' was identified in 91 fertile men (1.1%) CONCLUSION: Under our conditions, our study does not confirm any relationship between the polymorphic CAG repeat in the POLG gene and male infertility.     

A patient homozygous for the SCA6 gene with retinitis pigmentosa

The present authors studied a 55-year-old-patient homozygous for the SCA6 gene who experienced frequent attacks of positional vertigo at 37 years of age with subsequent staggering gait and night blindness. Retinitis pigmentosa (RP), as well as cerebellar ataxia and vertical antidirectional nystagmus, were detected. The subject's parents were first cousins, and two of his three male cousins, whose parents were also first cousins, had RP without ataxia or nystagmus. The numbers of CAG repeats in the expanded alleles of the SCA6 gene found by molecular analysis were 21 and 21. The genetic results were negative for SCA1, SCA2, SCA3, SCA7 and dentatorubral pallidoluysian atrophy. The retinal degeneration in this patient is most likely to be secondary to a genetic disorder of autosomal or X-linked recessive inheritance rather than SCA6. Other reported cases of patients homozygous for the SCA6 gene are also reviewed.     

颈动脉超声与动态心电图试验对冠心病的诊断价值

目的探讨颈动脉超声与动态心电图与冠心病的相关性。方法研究对象经CAG分为冠心病组和非冠心病组,超声观察颈动脉IMT及动态心电图试验结果,与CAG结果对照。结果非冠心病组、冠心病组不同分支病变组患者颈动脉IMT和冠状动脉记分随CAG严重程度的增加显著增加(P<0.05H或0.01),颈动脉IMT对冠心病诊断有较高的敏感性、特异性和Kappa值;动态心电图结果对冠心病诊断有较高的敏感性、特意性Kappa值。结论颈动脉超声和动态心电图是冠心病诊断的重要的辅助检查手段。     

CAG方案治疗急性髓细胞性白血病的护理

目的探讨CAG方案治疗急性髓细胞性白血病的疗效及护理。方法对42例AML患者随机分为CAG方案(集落刺激因子、阿糖胞苷和阿克拉霉素)治疗组和DA方案(柔红霉素和阿糖胞苷)治疗组化疗,同时配合支持治疗和对症护理。结果CAG方案治疗组13例达到完全缓解,4例部分缓解,7例无效,完全缓解率54.2%;DA方案治疗组4例完全缓解,3例部分缓解,8例无效,3例死亡,完全缓解率22.2%。两组有效率和完全缓解率比较有显著性差异(P<0.05)。结论CAG方案对治疗急性髓细胞性白血病有较好的效果,针对化疗药物不良反应给予良好的护理是取得治疗成功的重要保证。     

仁术健胃颗粒对慢性萎缩性胃炎脾气虚证大鼠血清MTL、SS和GAS水平的实验研究

目的:通过观察仁术健胃颗粒对慢性萎缩性胃炎(CAG)脾气虚证大鼠胃泌素(GAS)、生长抑素(SS)和胃动素(MTL)的影响,探讨仁术健胃颗粒预防和治疗慢性萎缩性胃炎脾气虚证的机制。方法:采用N-甲基-N-硝基-N-亚硝基胍(MNNG)和40%乙醇灌胃建立大鼠慢性萎缩性胃炎(CAG)模型,同时以破气苦降,饥饱失常和疲劳训练进一步建立CAG脾气虚证大鼠模型。将CAG脾气虚证大鼠随机分为模型组、胃复春组和仁术健胃颗粒3个剂量组。给予相应的药物连续治疗5周,正常组给予等量NS。实验末检测各组大鼠血清中GAS、SS和MTL水平。结果:CAG脾气虚证模型组大鼠GAS和SS水平与正常组比较明显降低;MTL水平显著升高(P0.05、P0.01)。经仁术健胃颗粒治疗后,6g/kg和12g/kg剂量组可显著降低MTL水平;升高GAS和SS水平。结论:仁术健胃颗粒治疗CAG脾气虚证与调节GAS、MTL、SS等胃肠激素水平,改善胃黏膜的炎症反应,促进局部胃黏膜的修复和腺体的再生有关。这可能是其治疗萎缩性胃炎的重要机制之一。     

半夏泻心汤加减治疗慢性萎缩性胃炎60例

目的:观察半夏泻心汤加减治疗慢性萎缩性胃炎的临床疗效。方法:将120例慢性萎缩性胃炎患者随机分为观察组及对照组各60例,对照组采取西药三联疗法口服治疗,观察组采取半夏泻心汤加减治疗,两组疗程均为8周。观察两组患者临床疗效、幽门螺杆菌(helicobacter pylori,Hp)清除率、治疗前后炎性细胞因子及免疫指标变化。结果:观察组有效率为91.67%,明显优于对照组的78.33%(P0.05);观察组Hp清除率为91.07%,明显优于对照组的72.73%(P0.05);两组患者治疗后IL-6、IL-8及TNF-α水平均较本组治疗前明显下降(P0.01,P0.05),观察组下降幅度显著优于对照组(P0.01);治疗后观察组CD3+、CD4+/CD8+水平较本组治疗前及对照组治疗后显著下降(P0.01),对照组治疗后各指标与治疗前比较差异无统计学意义(P0.05)。结论:半夏泻心汤加减治疗慢性萎缩性胃炎疗效显著,其治疗机制可能与其有效控制炎性反应及提高免疫功能有关。     

大鼠CAG证病结合模型舌肌超微结构观察

本实验观察大鼠慢性萎缩性胃炎 (CAG)证病结合模型的舌肌超微结构。雌性大鼠 ,分为对照组、CAG组、脾虚CAG组、肝郁CAG组、肾虚CAG组。CAG模型采用脱氧胆酸钠和阿斯匹林水溶液交替饮用加免疫损伤法 ;脾虚证模型采用耗气破气加饥饱失常法 ;肝郁证模型采用夹尾加肾上腺素注射法 ;肾虚证模型采用MTU溶液饮用法。总造模期 3 5周。造模结束后 ,从舌背面取舌肌 ,透射电镜观察。结果 ,与对照组比较 ,各实验组舌肌纤维线粒体有不同程度的异常 ,包括线粒体肿胀 ,膜结构破坏 ;嵴肿胀、模糊 ,断裂或消失 ,排列紊乱 ,出现髓鞘样改变 ;基质电子密度降低。各组中 ,CAG组和肝郁CAG组变化较轻 ,脾虚CAG组和肾虚CAG组较严重。舌肌超微结构在一定程度上反映了证、病和证病结合病理规律     

慢性萎缩性胃炎证型-证候分布及用药规律研究

目的:分析中医药治疗慢性萎缩性胃炎(CAG)验案中的中药用药规律,为临床上中医药治疗CAG提供参考.方法:基于中医传承辅助平台(V2.5),运用高级数据挖掘方法,对所收集处方中的药物信息、临床症状进行统计,并结合临床症状进一步分析治疗CAG的中药用药规律.结果:共收集CAG验案141个,包含中药处方141首,涉及中药1...