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Genetics of Equine Reproductive Diseases.

马生殖疾病的遗传学。

  • 影响因子:1.07
  • DOI:10.1016/j.cveq.2020.03.013
  • 作者列表:"Raudsepp T
  • 发表时间:2020-08-01
Abstract

:Reproductive disorders are genetically heterogeneous and complex; available genetic tests are limited to chromosome analysis and 1 susceptibility gene. Cytogenetic analysis should be the first test to confirm or rule out chromosomal aberrations. No causative genes/mutations are known. The only available genetic test for stallion subfertility is based on a susceptibility gene FKBP6. The ongoing progress in equine genomics will improve the status of genetic testing. However, because subfertile phenotypes do not facilitate collection of large numbers of samples or pedigrees, and clinical causes of many cases remain unknown, further progress requires constructive cross-talk between geneticists, clinicians, breeders, and owners.

摘要

: 生殖疾病具有遗传异质性和复杂性; 可用的基因检测仅限于染色体分析和1个易感基因。细胞遗传学分析应该是确认或排除染色体畸变的第一个测试。没有已知的致病基因/突变。种马亚生育力唯一可用的遗传测试基于易感基因fkbp6。马基因组学的进展将改善基因检测的现状。然而,由于低生育表型不能促进大量样本或家系的收集,并且许多病例的临床原因仍然未知,进一步的进展需要遗传学家、临床医生、育种者和所有者之间的建设性串扰。

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影响因子:1.79
发表时间:2020-03-01
DOI:10.1080/00498254.2019.1616850
作者列表:["Hekim N","Gure MA","Metin Mahmutoglu A","Gunes S","Asci R","Henkel R"]

METHODS::1. Glutathione S-transferases (GST) and cytochrome P450s (CYPs) are xenobiotic metabolizing enzymes participating in the protection of cell. The present study aimed to investigate the relationship between polymorphisms of glutathione S-transferase M1 (GSTM1) null, glutathione S-transferase T1 (GSTT1) null, glutathione S-transferase P1 (GSTP1) Ile105Val, cytochrome P450 1A2 (CYP1A2) 734 C→A, cytochrome P450 2D6 (CYP2D6) 1934 G→A and male infertility.2. A total of 306 azoospermic or oligozoospermic infertile men and 129 normozoospermic or fertile controls were enrolled in the study. Multiplex polymerase chain reaction (PCR) or PCR-restriction fragment length polymorphism methods were used for genotyping. There was a significant relationship between male infertility and CYP2D6 GG genotype (p < 0.001). CYP1A2 AA genotype was slightly higher in the infertile group (p = 0.056).3. There was no association between GSTT1 null polymorphisms and male infertility (p = 0.068), GSTM1 null (p = 0.843) and GSTP1 Ile105Val (p = 0.192) genes. GSTM1 null genotype frequency was higher in azoospermic men (p = 0.009). Men carrying CYP1A2 AA genotype had higher risk of infertility risk (OR = 3.14; %95 CI = 1.16-8.54) in the smoker group.4. Our results demonstrated that polymorphisms of CYP2D6 and CYP1A2 may play a role in idiopathic male infertility in our sample population.

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影响因子:1.27
发表时间:2020-01-01
DOI:10.1111/ppc.12392
作者列表:["Safaei Nezhad A","Ebrahimi L","Vakili MM","Kharaghani R"]

METHODS:PURPOSE:This study evaluated the effect of counseling based on the choice theory on irrational parenthood cognition (IPC)- and marital quality in infertile women. DESIGN AND METHODS:This randomized controlled trial was conducted on 50 primary infertile women in Zanjan, Iran. Stratified block randomization was used to allocate participants to groups. The intervention group received counseling, but the control group received routine care. Data were collected using the IPC and marital relationships quality based on the Glasser's choice theory. FINDINGS:A statistically significant difference was found between the groups in IPC (P = 0.005), but the difference in marital quality was not statically significant ( P = 0.085). PRACTICE IMPLICATIONS:Counseling can be used for decreasing IPC, but more interventions are needed to increase marital quality.

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影响因子:2.14
发表时间:2020-02-01
DOI:10.1007/s11427-019-9526-2
作者列表:["Liu D","Yan J","Qiao J"]

METHODS::A decrease in cancer deaths has resulted in the possibility of child bearing for many young adult cancer survivors. Most antitumor treatment modalities are detrimental to female fertility, and methods for fertility preservation before gonadotoxic treatment, including cryopreservation of oocytes, embryos and ovarian tissue, have therefore been developed. This review focuses on the ovarian function of cancer patients, the safety and efficacy of fertility preservation methods, and the pregnancy outcomes of these patients. Breast cancer and hematological tumors constitute the majority of cancers in reproductive-aged female oncology patients. Ovarian function may not be impacted by breast cancer cells, while in patients with hematological malignancies, decreases in anti-Müllerian hormone and antral follicle counts have been demonstrated. In most cases, patients can undergo ovarian stimulation without delaying treatment, and a new stimulation protocol known as dual stimulation, which may be more efficient, has now been developed. Birth outcomes are also acceptable in cancer patients.

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不孕症方向

不孕症分为男性不育和女性不孕,其首要病因诊断依次是:排卵障碍、精液异常、输卵管异常、不明原因的不孕、子宫内膜异位症和其他如免疫学不孕。

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