Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China

我们进行了 Kallmann 症候群的分析 1 (KAL-1 ) 在有 Kallmann 症候群(KS ) 的 17 个病人的遗传型，有 normosmic 的 9 个病人自发的 hypogonadotropic 性腺机能减退(nIHH ) 和在西北的中国的 20 个匹配年龄的正常的人。做这，我们与胁腹 exon 教材使用了复合 PCR 分析并且自动化了与外部血 DNA 样品定序技术。Intragenic 删除在二个 KS 病人在 KAL-1 地点被发现。有 atrial 的一个盒子氏族的缺点展出了 exon 的 intragenic 删除 6。有 cryptorchidism 的另一个 KS 病人有 exons 的 intragenic 删除 5 和 6。为 nIHH 病人，没有畸形在 exonic 和 KAL-1 的 flanking 序列被观察。这份报告在二个 KS 病人描述 KAL-1 的二 intragenic 删除并且建议那 KAL-1 删除可能比从西北的中国在另外的系列以前描述的那些在有另外的先天的机关畸形的 KS 病人是更流行的。

Genetic polymorphism of glutathione S-transferase T1 gene and susceptibility to idiopathic azoospermia or oligospermia in northwestern China

瞄准：在西北的中国人口与自发的精子缺乏或 oligospermia 在病人调查谷胱甘肽 S-transferase T1 (GSTT1 ) 基因多型性的协会。方法：在盒子控制学习， GSTT1 遗传型被复合聚合酶链反应(PCR ) 与血 DNA 与正常精子集中和活动性与自发的精子缺乏，有自发的 oligospermia 的 103 个病人和 156 匹配年龄的控制从 78 个病人取样的外设识别，根据从世界健康组织指南改编的标准。所有病人和控制来自西北的中国。结果：在有自发的精子缺乏风险的 GSTT1 空遗传型之间有一个重要协会(机会比率[或] ：2.36， 95% 信心间隔[CI ] ：1.33-4.20， P= 0.003 ) 或自发的 oligospermia 风险(或：2.00， 95% CI：1.17-3.27， P= 0.010 ) 。结论：GSTT1 空遗传型在西北的中国是为分散的自发的精子缺乏或 oligospermia 的一个预先安排的风险因素。

Comprehensive treatment for primary right renal diffuse large B-cell lymphoma with a renal vein tumor thrombus:A case report

BACKGROUND Renal involvement in lymphoma is commonly associated with widespread nodal or extranodal lymphoma.Primary renal diffuse large B-cell lymphoma is an extremely rare extranodal lymphoma,accounting for fewer than 1%of all renal masses.Interestingly,the patient in this study had a renal vein tumor thrombus that was observed after laparoscopic radical nephrectomy.CASE SUMMARY We report the case of a 56-year-old female patient with primary renal lymphoma and a renal vein tumor thrombus whose first symptom was right pain in the back and gross hematuria.Histopathology revealed primary renal diffuse large B-cell lymphoma.The patient received 8 standard cycles of rituximab with cyclophosphamide,doxorubicin,vincristine,and prednisone chemotherapy after surgery,and no obvious signs of recurrence were observed during the one-year follow-up.CONCLUSION We evaluated comprehensive treatment of primary renal diffuse large B-cell lymphoma and multidisciplinary management of this malignancy.

Glutathione S-transferase genetic polymorphisms and fluoride-induced reproductive toxicity in men with idiopathic infertility

Male infertility caused by idiopathic oligoasthenospermia(OAT)is known as idiopathic male infertility.Glutathione S-transferase(GST)and fluoride may play important roles in idiopathic male infertility,but their effects are still unknown.Our study examined the relationship between GST polymorphisms and fluoride-induced toxicity in idiopathic male infertility and determined the underlying mechanism.Sperm,blood,and urine samples were collected from 560 males.Fluoride levels were measured by a highly selective electrode method,and GST genotypes were identified using polymerase chain reaction(PCR)and PCR-restriction fragment length polymorphism(PCR-RFLP).Semen parameters,DNA fragmentation index(DFI),mitochondrial membrane potential(MMP),and oxidative stress(OS)biomarkers were statistically assessed at the P<0.05 level.Compared with healthy fertile group,semen parameters,fluoride levels,OS biomarkers,sex hormone levels,and MMP and DFI levels were lower in the idiopathic male infertility group.For glutathione S-transferase M1(GSTM1[-])and glutathione S-transferase T1(GSTT1[-])or glutathione S-transferase P1(GSTP1)mutant genotypes,levels of semen fluoride,OS,MMP,and DFI were considerably higher,and the mean levels of sperm parameters and testosterone were statistically significant in GSTM1(+),GSTT1(+),and GSTP1 wild-type genotypes.Both semen and blood fluoride levels were associated with oxidative stress in idiopathic male infertility patients.Elevated fluoride in semen with the genotypes listed above was linked to reproductive quality in idiopathic male infertility patients.In conclusion,GST polymorphisms and fluorine may have an indicative relationship between reproductive quality and sex hormone levels,and OS participates in the development of idiopathic male infertility.

Effects of mild/asymptomatic COVID-19 on semen parameters and sex-related hormone levels in men:a systematic review and meta-analysis

Coronavirus disease 2019(COVID-19)has yet to be proven to alter male reproductive function,particularly in the majority of mild/asymptomatic patients.The purpose of this study was to explore whether mild/asymptomatic COVID-19 affects semen quality and sex-related hormone levels.To find suitable comparative studies,a systematic review and meta-analysis was done up to January 22,2022,by using multiple databases(Web of Science,PubMed,and Embase).Preferred Reporting Items for Systematic Reviews and Meta-Analyses(PRISMA)guidelines were used to identify and choose the studies.Meta-analysis was used to examine the semen parameters and sex-related hormones of mild/asymptomatic COVID-19 patients before and after infection.The effects of semen collection time,fever,and intensity of verification on semen following infection were also investigated.A total of 13 studies(n=770)were included in the analysis,including three case-control studies,six pre-post studies,and four single-arm studies.A meta-analysis of five pre-post studies showed that after infection with COVID-19,sperm concentration(I^(2)=0;P=0.003),total sperm count(I^(2)=46.3%;P=0.043),progressive motility(I^(2)=50.0%;P<0.001),total sperm motility(I^(2)=76.1%;P=0.047),and normal sperm morphology(I^(2)=0;P=0.001)decreased.Simultaneously,a systematic review of 13 studies found a significant relationship between semen collection time after infection,inflammation severity,and semen parameter values,with fever having only bearing on semen concentration.Furthermore,there was no significant difference in sex-related hormone levels before and after infection in mild/asymptomatic patients.Mild/asymptomatic COVID-19 infection had a significant effect on semen quality in the short term.It is recommended to avoid initiating a pregnancy during this period of time.

CYP2D6*10基因多态性对他莫昔芬联合十一酸睾酮治疗特发性少精男性不育症的疗效影响(英文)

目的:探讨细胞色素P450 2D6*10(CYP2D6*10)基因遗传多态性,并评估其对他莫昔芬联合十一酸睾酮治疗特发性少精男性不育症患者血清性激素、精液参数及自然妊娠率的影响。方法:该病例对照研究包括230例特发性少精男性不育患者和147例正常对照。病例组服用枸橼酸他莫昔芬20 mg/d和十一酸睾酮40 mg/d,疗程共6个月。采用Hph I内切酶对CYP2D6*10基因聚合酶链式反应(PCR)产物进行内切后,从而对其分型。分别于研究开始时、3月及6月分别检测研究对象性激素水平、精液参数及配偶自然妊娠率。结论:CYP2D6*10基因突变型特发性少精男性不育患者接受他莫昔芬联合十一酸睾酮疗效较基因野生型组差。

Metabolic enzyme gene polymorphisms predict the effects of antioxidant treatment on idiopathic male infertility

To explore the relationship between genetic polymorphisms of metabolic enzymes such as CYP1A1,CYP2D6,GSTM1,GSTT1,and GSTP1 and idiopathic male infertility.By observing the efficacy of antioxidants in the treatment of idiopathic male infertility,the effect of metabolic enzyme gene polymorphisms on antioxidant therapy in patients with idiopathic male infertility was prospectively studied.This case-control study included 310 men with idiopathic infertility and 170 healthy controls.The cytochrome P4501A1(CYP1A1),cytochrome P4502D6(CYP2D6),glutathione S-transferase M1(GSTM1),glutathione S-transferase T1(GSTT1),and glutathione S-transferase P1(GSTP1)genotypes in peripheral blood samples were analyzed by polymerase chain reaction(PCR)and PCR-restriction fragment length polymorphism(PCR-RFLP).The idiopathic male infertility group was treated with vitamin C,vitamin E,and coenzyme Q10 for 3 months and followed up for 6 months.GSTM1(-),GSTT1(-),and GSTM1/T1(-/-)in the idiopathic male infertility groups were more common than those in the control group.The sperm concentration,motility,viability,mitochondrial membrane potential(MMP),and seminal plasma total antioxidant capacity(T-AOC)level in patients with GSTM1(-),GSTT1(-),and GSTM1/T1(-/-)were lower than those in wild-type carriers,and the sperm DNA fragmentation index(DFI),8-hydroxy-2'-deoxyguanosine(8-OH-dG),and malondialdehyde(MDA)and nitric oxide(NO)levels were higher.Therefore,oxidative damage may play an important role in the occurrence and development of idiopathic male infertility,but antioxidant therapy is not effective in male infertility patients with GSTM1 and GSTT1 gene deletions.