Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome

BACKGROUND: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. The aim of the present study was to investigate the role of CALPAIN-5 (CAPN5) gene in PCOS susceptibility. METHODS: We analysed four intronic polymorphisms of the CAPN5 gene in 148 well-characterized women with PCOS and 606 unrelated controls. We performed a case-control study and an intracohort analysis of clinical characteristics associated with PCOS. RESULTS: Analysis of haplotypes distribution between PCOS population compared to controls showed a strong deviation (P = 0.00029). The haplotypes GGCA and GGTG were overrepresented in PCOS patients (P = 0.009 and P = 0.001, respectively). In addition, we identified several CAPN5 haplotypes associated with phenotypic differences observed between PCOS patients, such as the presence of obesity (P = 0.02), cardiovascular complications (P = 0.02), familial antecedents of obesity (P = 0.003) and of hypertension (P = 0.007) and type 2 diabetes mellitus aggregation (P = 0.04). CONCLUSIONS: These results suggest a role of CAPN5 gene in PCOS susceptibility in humans. Moreover, novel candidate risk alleles have been identified, within CAPN5 gene, which could be associated with important phenotypic and prognosis differences observed in PCOS patients.     

The transient but not resident (TBNR) microbiome: a Yin Yang model for lung immune system

Abstract

The concept of microbial content of the lung is still controversial. What make this more complicated are controversial results obtaining from different methodologies about lung microbiome and the definition of “lung sterility”. Lungs may have very low bacteria but are not completely germ-free. Bacteria are constantly entering from the upper respiratory tract, but are then quickly being cleared. We can find bacterial DNA in the lungs, but it is much harder to ask about living bacteria. Here, we propose that if there is any trafficking of the microorganisms in the lung, it should be a “Transient But Not Resident (TBNR)” model. So, we speculate a "Yin Yang model" for the lung immune system and TBNR. Despite beneficial roles of microbiome on the development of lung immune system, any disruption and alteration in the microbiota composition of upper and lower airways may trigger or lead to several diseases such as asthma, chronic obstructive pulmonary disease and mustard lung disease.     

不孕症治疗中超声监测卵泡发育的临床应用

目的观测卵泡生长发育和排卵在不孕症治疗中的临床价值。方法腹部超声对103例不孕症患者的卵泡生长情况进行监测,采用克罗米芬及HCG治疗。结果排卵障碍不孕症患者中有优势卵泡且最终排卵的63例,妊娠56例。先有优势卵泡后逐渐萎缩27例,包括多囊卵巢综合症11例,卵泡不破裂黄素化6例,未见优势卵泡13例。结论超声可对卵泡行动态观察,在治疗中选择有效剂量,可准确预报排卵时间进行人工受精,指导患者掌握受孕机会,是治疗不孕症不可缺少的重要手段。     

Biogenic amine receptor gene expression in the ovarian tissue of the honey bee Apis mellifera

In the honey bee Apis mellifera loss of the queen from a colony induces increased levels of the biogenic amine dopamine in the brain of workers, and this elevation is correlated with ovary activation. In the present study we use real-time quantitative PCR to investigate expression of five biogenic amine receptor genes. We show that biogenic amine receptors are expressed in ovarian tissue, and that their expression is strongly influenced by the presence or absence of a queen in the colony. In contrast to the brain, where all three dopamine receptors are expressed, only two dopamine receptors are expressed in the ovaries, and their expression is strongly correlated with the reproductive status of workers. We conclude that biogenic amine receptors are expressed in the ovaries and are likely to be directly influential in the regulation of worker sterility in honey bees.     

630例遗传咨询者的细胞遗传学研究

本文自1988年1月至1992年12月，对遗传咨询者疑有染色体异常进行了外周血染色体核型分析，检出染色体异常63例，占受检人数的10%。其中常染色体数目异常4例，占异常染色体6.3％；常染色体结构异常20例，占31.7%；性染色体数目异常26例，占41．3%；常染色体结构异常同时伴有性染色体数目异常1例，占1．6％；染色体变异5例，占7．9％；大Y染色体7例，占11.1％。异常核型涉及的染色体有2、3、4、5、7、8、9、11、12、13、14、15、17、18、21、22、X、Y，共18条。     

Cytotoxic Activity of Endometrial Immunocompetent Cells Determines the Outcome of Embryo Implantation

The data on the formation of blastocysts in culture during therapeutic cycles of extracorporeal fertilization and on cytotoxic index of the endometrium in women with different clinical pathogenetic variants of sterility are presented. Analysis of correlations of these parameters with the incidence of effective implantation and pregnancy revealed a strict correlation between cytotoxic activity of endometrial immunocompetent cells and human embryo implantation.     

A triallelic system of S5 is a major regulator of the reproductive barrier and compatibility of indica-japonica hybrids in rice

Hybrid sterility is a major form of postzygotic reproductive isolation. Although reproductive isolation has been a key issue in evolutionary biology for many decades in a wide range of organisms, only very recently a few genes for reproductive isolation were identified. The Asian cultivated rice (Oryza sativa L.) is divided into two subspecies, indica and japonica. Hybrids between indica and japonica varieties are usually highly sterile. A special group of rice germplasm, referred to as wide-compatibility varieties, is able to produce highly fertile hybrids when crossed to both indica and japonica. In this study, we cloned S5, a major locus for indica-japonica hybrid sterility and wide compatibility, using a map-based cloning approach. We show that S5 encodes an aspartic protease conditioning embryo-sac fertility. The indica (S5-i) and japonica (S5-j) alleles differ by two nucleotides. The wide compatibility gene (S5-n) has a large deletion in the N terminus of the predicted S5 protein, causing subcellular mislocalization of the protein, and thus is presumably nonfunctional. This triallelic system has a profound implication in the evolution and artificial breeding of cultivated rice. Genetic differentiation between indica and japonica would have been enforced because of the reproductive barrier caused by S5-i and S5-j, and species coherence would have been maintained by gene flow enabled by the wide compatibility gene.