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Natural transmission of AZFb Y-chromosomal microdeletion from father to his three sons. AZFb y染色体微缺失从父亲自然传播给他的三个儿子。
Pub Date : 2006-11-01 DOI: 10.1080/01485010600822655
H Samli, M Murat Samli, M Solak

Microdeletions of the so-called azoospermia factor (AZF) locus of the Y chromosome long arm (Yq) are an etiological factor of severe oligozoospermia or azoospermia. Patients affected are infertile unless assisted reproductive techniques are used. We report the case of an azoospermic patient (proband) and three brothers who inherited a Yq microdeletion from their father through a spontaneous pregnancy. Leukocyte DNA was extracted using a commercially available kit. A total of 15 pairs of sequence-tagged site (STSs) based primers, spanning the AZFa, b and c regions, were used for screening. All brothers and their father carried a Yq microdeletion of the AZFb subregion where the RNA-binding motif (RBM) gene is located. The proband carried additional deletions of the AZFa and AZFb subregions. RBM deletion can be associated with oligozoospermia allowing natural conception and therefore natural transmission of this genetic anomaly.

Y染色体长臂(Yq)上所谓的无精子症因子(AZF)位点的微缺失是严重少精症或无精子症的病因。除非使用辅助生殖技术,否则患者无法生育。我们报告一例无精子患者(先证者)和三个兄弟谁继承了一个Yq微缺失从他们的父亲通过自然怀孕。使用市售试剂盒提取白细胞DNA。共筛选了15对基于序列标记位点(STSs)的引物,涵盖AZFa、b和c区。所有兄弟和他们的父亲都携带rna结合基序(RBM)基因所在的AZFb亚区Yq微缺失。先证者携带AZFa和AZFb亚区额外的缺失。RBM缺失可能与少精症有关,允许自然受孕,因此自然传播这种遗传异常。
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引用次数: 10
Y chromosome microdeletion in a case with Klinefelter's Syndrome. 克氏综合征Y染色体微缺失1例。
Pub Date : 2006-11-01 DOI: 10.1080/01485010600840780
H Samli, M M Samli, A Azgoz, M Solak

In male infertility, the frequency of genetic factors is high. Klinefelter's Syndrome is the most frequent sex chromosomal abnormality detected in male infertility. In this study we report a patient diagnosed with Klinefelter's Syndrome with a deletion of the Yq interval. The patient was 24-years old with primary infertility. Semen analyses carried out in triplicate indicated azoospermia. The plasma leutenizing hormone (LH) and follicle stimulating hormone (FSH) levels were abnormally high and the testosterone level was lower than the usual range. Each of his testes had a volume of 3 cc. Peripheral blood karyotype analysis showed Klinefelter's Syndrome (47, XXY) pattern. Polymerase chain reaction amplification of DNA was performed using the following primers; AZFa (sY81, sY82, sY84), AZFb (sY127, sY142, sY164, RBM1), AZFc (CDY, BPY, sY254, sY255, sY277), AZFd (sY152, sY145, sY153). Analysis revealed a single deletion of AZFa region (sY84). Deletion of the AZFa region may be an additional factor for absolute azoospermia in men with Klinefelter's Syndrome. For individuals with Klinefelter's Syndrome who plan to undergo assisted reproduction techniques, Y chromosome microdeletion screening can diagnostically be convenient.

在男性不育症中,遗传因素的频率很高。克氏综合征是男性不育症中最常见的性染色体异常。在这项研究中,我们报告了一位被诊断为Klinefelter综合征的患者,其Yq间隔缺失。患者24岁,原发不孕症。精液分析在三个重复进行表明无精子症。血浆促卵泡激素(FSH)、促黄体生成素(LH)水平异常高,睾酮水平低于正常范围。每只睾丸体积为3cc,外周血核型分析显示Klinefelter综合征(47,XXY)型。使用以下引物进行DNA的聚合酶链反应扩增;AZFa (sY81、sY82、sY84)、AZFb (sY127、sY142、sY164、RBM1)、AZFc (CDY、BPY、sY254、sY255、sY277)、AZFd (sY152、sY145、sY153)。分析显示AZFa区(sY84)存在单个缺失。AZFa区域的缺失可能是Klinefelter综合征男性绝对无精子症的另一个因素。对于计划接受辅助生殖技术的克氏综合征患者,Y染色体微缺失筛查可以方便地进行诊断。
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引用次数: 8
The effect of chymotrypsin on the determination of total alpha-glucosidase activity in seminal plasma and the correlation between alpha-glucosidase level and semen parameters. 乳凝胰蛋白酶对精浆中总α -葡萄糖苷酶活性测定的影响及α -葡萄糖苷酶水平与精液参数的相关性。
Pub Date : 2006-11-01 DOI: 10.1080/01485010600822689
H-R Xu, J-C Lu, F Chen, Y-F Huang, B Yao, N-Q Lu

To evaluate the effect of chymotrypsin on the examination of alpha-glucosidase activity in seminal plasma, thirty-nine samples of fresh liquefied semen with or without chymotrypsin and forty-eight samples of fresh un-liquefied semen with chymotrypsin were determined for the total alpha-glucosidase activity in seminal plasma. The total alpha-glucosidase level of each sample was assayed by the method of glucose oxidase. The correlations between alpha-glucosidase level and semen parameters, including semen volume, pH, sperm concentration, grade a and b motility and total motility, were analyzed with SPSS 11.0 software. The results showed that chymotrypsin had no effect on seminal alpha-glucosidase activity determination. Chymotrypsin could improve the liquefaction for un-liquefied semen, and there was no significant difference of alpha-glucosidase activity between liquefied and un-liquefied semen samples. There were significantly positive correlations between seminal alpha-glucosidase activity (U/ml) and sperm concentration (r = 0.338, p = 0.015) and between total alpha-glucosidase activity (U/ejaculate) and semen volume (r = 0.677, p = 0.000). However, there was no significant correlation between alpha-glucosidase level (U/ml) and semen volume, pH, sperm motility or grade a and b motility (r = -0.234 approximately 0.077, p = 0.099 approximately 0.993). The data indicated that chymotrypsin could be added into the un-liquefied semen samples for alpha-glucosidase activity determination, and there were different correlations between seminal alpha-glucosidase level and various semen parameters.

为评价凝乳胰蛋白酶对精浆α -葡萄糖苷酶活性的影响,分别对39份含或不含凝乳胰蛋白酶的新鲜液化精液和48份含凝乳胰蛋白酶的新鲜未液化精液进行了精浆α -葡萄糖苷酶总活性测定。用葡萄糖氧化酶法测定各样品的总α -葡萄糖苷酶水平。采用SPSS 11.0软件分析α -葡萄糖苷酶水平与精液体积、pH、精子浓度、a级、b级活力和总活力的相关性。结果表明,胰凝乳酶对种子α -葡萄糖苷酶活性测定无影响。乳糜蛋白酶能促进未液化精液的液化,且液化与未液化精液样品α -葡萄糖苷酶活性无显著差异。精液α -葡萄糖苷酶活性(U/ml)与精子浓度呈显著正相关(r = 0.338, p = 0.015),总α -葡萄糖苷酶活性(U/射精)与精液体积呈显著正相关(r = 0.677, p = 0.000)。而α -葡萄糖苷酶水平(U/ml)与精液体积、pH、精子活力、a级和b级活力无显著相关(r = -0.234约0.077,p = 0.099约0.993)。结果表明,在未液化的精液样品中添加胰凝乳酶可用于测定α -葡萄糖苷酶活性,且精液α -葡萄糖苷酶水平与精液各参数之间存在不同的相关性。
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引用次数: 6
Antisperm antibodies in prepubertal boys with cryptorchidism. 青春期前隐睾男孩的抗精子抗体。
Pub Date : 2006-11-01 DOI: 10.1080/01485010600822747
Alina Domagala, Anna Havryluk, Andrij Nakonechnyj, Marzena Kamieniczna, Valentina Chopyak, Maciej Kurpisz

The presence of antisperm antibodies in male individuals before puberty is controversial due to the lack of finally differentiated male germ cells. It was questioned whether the pathologic conditions of the male gonad may influence antisperm antibody formation in individuals before puberty. Sera samples of 76 individuals and 10 healthy boys with testicular failure (mainly uni- or bilateral cryptorchidism) were examined by means of indirect immunobead-binding test (IDIBT). The presence of antisperm antibodies was found in 3.95% of the studied subjects. Antibodies recognizing antigenic determinants present on the surface of mature sperm cells may be produced before puberty in individuals suffering from cryptorchidism or the other gonadal disorders. Antisperm antibodies that did develop in a minority of the studied male population may be proof for individual predispositions to autoimmune reactions.

由于缺乏最终分化的男性生殖细胞,在青春期前男性个体中存在抗精子抗体是有争议的。人们质疑男性性腺的病理状况是否会影响青春期前个体抗精子抗体的形成。本文采用间接免疫珠结合试验(IDIBT)对76例和10例睾丸功能衰竭(以单侧或双侧隐睾为主)的健康男孩进行了血清检测。3.95%的研究对象存在抗精子抗体。在患有隐睾症或其他性腺疾病的个体中,识别存在于成熟精子细胞表面的抗原决定因子的抗体可能在青春期前产生。在少数被研究的男性人群中确实产生了抗精子抗体,这可能是个体易患自身免疫反应的证据。
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引用次数: 12
Standardization and quality control for the determination of alpha-glucosidase in seminal plasma. 精浆中α -葡萄糖苷酶测定的标准化和质量控制。
Pub Date : 2006-11-01 DOI: 10.1080/01485010600822705
J-C Lu, H-R Xu, F Chen, Y-F Huang, N-Q Lu

We attempted to provide an instruction for the standardization of alpha-glucosidase level determination and quality controls within the same laboratory and among different laboratories. Each of 51 semen samples was divided into two aliquots, centrifuging at 1000 g for 10 min or 3000 g for 15 min. The alpha-glucosidase level and sperm concentration of each sample were assayed. The alpha-glucosidase level in seminal plasma obtained at 3000 g for 15 min centrifugation was significantly lower than that at 1000 g for 10 min (p = 0.001). An additional 6 samples of seminal plasma with or without phenylmethylsulfonyl fluoride (PMSF), obtained at 3000 g for 15 min centrifugation, were frozen for 20 days, and each of 6 samples was determined for their alpha-glucosidase levels after thawing every other day. There was no significant difference between alpha-glucosidase levels in seminal plasma regardless of the presence of PMSF. The alpha-glucosidase level increased with the length of abstinence period. In conclusion, centrifugal velocity and abstinence time should be standardized in the alpha-glucosidase determination. Frozen seminal plasma may serve as the sample for quality control among clinical laboratories.

我们试图为同一实验室和不同实验室间α -葡萄糖苷酶水平测定和质量控制的标准化提供指导。将51份精液样本分成两份,1000 g离心10 min或3000 g离心15 min,检测每份样本的α -葡萄糖苷酶水平和精子浓度。3000 g离心15 min时精浆α -葡萄糖苷酶水平显著低于1000 g离心10 min时(p = 0.001)。另外6份含或不含苯基甲基磺酰氟(PMSF)的精浆样品,在3000 g离心15分钟后冷冻20天,每隔一天解冻后检测6份样品的α -葡萄糖苷酶水平。无论PMSF是否存在,精浆中α -葡萄糖苷酶水平均无显著差异。α -葡萄糖苷酶水平随戒断时间的延长而升高。综上所述,在α -葡萄糖苷酶测定中,离心速度和停药时间应标准化。冷冻精浆可作为临床实验室质量控制的样本。
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引用次数: 7
Sex hormone status in male rats after exposure to 50 Hz, 5 mTesla magnetic field. 暴露于50hz, 5mtesla磁场后雄性大鼠的性激素状况。
Pub Date : 2006-09-01 DOI: 10.1080/01485010600667092
R M Mostafa, Y M Moustafa, F M Ali, A Shafik

The question of whether extremely low frequency magnetic fields can affect biological system has attracted attention. The theoretical possibility of such an interaction is often questioned and the site of interaction is unknown. The influence of extremely low frequency magnetic field of 50 Hz, 5 mTesla on sex hormone status was studied. 60 male albino rats were divided into 6 groups and were continuously exposed to 50 Hz, 5 mTesla magnetic field generated by magnetic field chamber for periods of 1, 2 and 4 weeks. For each experimental point, sham treated group was used as a control. Assay of serum testosterone LH, FSH, and prolactin were performed. Serum testosterone showed no significant changes. FSH showed significant increase than sham exposed group after 1 week magnetic field exposure. LH showed significant increase than sham exposed group only after 4 weeks magnetic field exposure, while serum prolactin hormone level showed a significant increase in all magnetic field exposed groups than sham exposed animals. Exposure to 50 Hz, 5 mTesla magnetic field for periods of 1, 2 and 4 weeks has no effect on testosterone level, some changes on FSH and LH serum levels and increase in serum prolactin level.

极低频磁场是否会对生物系统产生影响的问题引起了人们的关注。这种相互作用的理论可能性经常受到质疑,相互作用的地点也是未知的。研究了50 Hz, 5 mTesla的极低频磁场对性激素状态的影响。将60只雄性白化大鼠分为6组,连续暴露于磁场室产生的50 Hz、5 mTesla磁场中,时间为1、2、4周。每个试验点均以假手术组为对照。测定血清睾酮、黄体生成素、卵泡刺激素和催乳素。血清睾酮无明显变化。磁场暴露1周后,FSH明显高于假暴露组。磁场暴露4周后,LH均较假暴露组显著升高,而血清催乳素水平各磁场暴露组均较假暴露组显著升高。暴露于50 Hz, 5 mTesla磁场1、2和4周对睾酮水平无影响,血清FSH和LH水平有一定变化,血清催乳素水平升高。
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引用次数: 15
Localization of SNAREs, NSF and Caveolin 1 in human spermatozoa: relationship with seminal parameters. 人类精子中SNAREs、NSF和Caveolin 1的定位:与精子参数的关系。
Pub Date : 2006-09-01 DOI: 10.1080/01485010600667050
A P M Sousa, C S S Gomes-Santos, J Ramalho-Santos

Membrane fusion is a very important process in gametes. The mechanism of membrane fusion during the AR has been proposed to involve SNAREs. Our aim is to quantify patterns of localization of Caveolin 1, SNAREs (Syntaxin 1A, Syntaxin 2 and VAMP 1) and NSF on human sperm, to determine how the differential distribution of these proteins might be interdependent and to evaluate if this distribution is related with seminal parameters. These proteins are present in different regions of the head of human sperm: anterior, equatorial and posterior regions and that Syntaxin 2 and Syntaxin 1A had a slightly different pattern of labelling. The presence and localization of SNAREs, NSF and Caveolin 1 do not correlate with seminal parameters. There is significant correlation between NSF and SNAREs, which may indicate a cooperation of these proteins in membrane fusion mechanisms of human sperm.

膜融合是配子中一个非常重要的过程。在AR过程中膜融合的机制被认为涉及到SNAREs。我们的目的是量化Caveolin 1、SNAREs (Syntaxin 1A、Syntaxin 2和VAMP 1)和NSF在人类精子上的定位模式,以确定这些蛋白质的差异分布如何相互依赖,并评估这种分布是否与精液参数有关。这些蛋白质存在于人类精子头部的不同区域:前、赤道和后区域,Syntaxin 2和Syntaxin 1A的标记模式略有不同。SNAREs、NSF和Caveolin 1的存在和定位与种子参数无关。NSF与SNAREs之间存在显著的相关性,这可能表明这两种蛋白在人类精子膜融合机制中存在合作关系。
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引用次数: 9
Comparison of timing of IUI in ovarian stimulated cycles. 卵巢刺激周期中人工授精时机的比较。
Pub Date : 2006-09-01 DOI: 10.1080/01485010600692751
Y-C Wang, Y-C Chang, I-C Chen, H-H Cnien, G-J Wu

This study was conducted to compare pregnancy rates following two different timings of intrauterine insemination (IUI) in ovarian stimulated cycles. This retrospective study included 135 couples undergoing treatment for infertility. IUI was performed at either 24 hr or 36 hr after hCG injection. Pregnancy rates did not differ between the two groups or in subgroups receiving different methods of ovarian stimulation. Pregnancy rates were similar when IUI was performed at either 24 or 36 hr after hCG injection in ovarian stimulated cycles.

本研究旨在比较卵巢刺激周期中两种不同时间的宫内人工授精(IUI)的妊娠率。这项回顾性研究包括135对接受不孕症治疗的夫妇。在hCG注射后24小时或36小时进行IUI。妊娠率在两组之间或接受不同卵巢刺激方法的亚组之间没有差异。在卵巢刺激周期注射hCG后24或36小时进行IUI时,妊娠率相似。
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引用次数: 15
Evaluation of sperm nuclear morphology in specimens with abnormal sperm chromatin structural assays. 评价异常精子染色质结构分析标本的精子核形态。
Pub Date : 2006-09-01 DOI: 10.1080/01485010600692694
J H Check, D Summers-Chase, K Swenson, M L Check, C Amadi

Two recent tests have claimed to identify the subfertile male even when other semen parameters were normal: the sperm chromatin structure assay (SCSA) and abnormal sperm nuclear morphology using much higher magnification. The present study attempted to determine if having a high (> 30%) DNA fragmentation index (DFI), thus resulting in an abnormal SCSA test, is associated with a greater likelihood of sperm with abnormal nuclei. Four males with high DFI scores (57.6%, 65.4%, 31.0%, and 35.3%) had their nuclei evaluated by a complex microscope set-up that magnifies the sperm at least 6000x. The corresponding % of normal nuclei was 0%, 20.0%, 23.7% and 40.0%. The mean and median % of normal nuclei was 20.9+/-16.43 and 21.8, respectively. More studies of similarly matched refractory in vitro fertilization cases, where males have normal DFI scores, are needed to determine if having a high DFI index is associated with a lower percentage of normal nuclei.

最近的两项测试声称,即使在其他精液参数正常的情况下,也能识别出不育男性:精子染色质结构分析(SCSA)和使用更高倍率的异常精子核形态。本研究试图确定DNA片段化指数(DFI)高(> 30%),从而导致SCSA检测异常,是否与精子核异常的可能性较大有关。4名DFI评分较高的男性(57.6%,65.4%,31.0%和35.3%)通过将精子放大至少6000倍的复杂显微镜装置对其细胞核进行评估。相应的正常细胞核百分比分别为0%、20.0%、23.7%和40.0%。正常细胞核的平均值和中位数分别为20.9+/-16.43和21.8。需要对相似匹配的难固性体外受精病例进行更多的研究,其中男性DFI评分正常,以确定高DFI指数是否与较低的正常细胞核百分比相关。
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引用次数: 1
Estrogen receptor beta type in the rat urinary bladder. 大鼠膀胱雌激素受体β型。
Pub Date : 2006-09-01 DOI: 10.1080/01485010600666821
M Eliçevik, S Horasanli, E Okaygün, S Badur, S Celayir

This study was conducted to localize estrogen receptor beta (ERbeta) in the rat urinary bladder respect to gender. The bladder dome and trigone of 16 Sprague Dawley rats (Male: 8, Female: 8) were evaluated utilizing the reverse transcriptase-polymerase chain reaction technique (RT-PCR) to detect ERbeta signal. Chi square test was used for statistical analysis. ERbeta was present in the bladder of 13 rats and absent in 3. The side of expression was bladder trigone in 13 rats and besides ERbeta (M: 1, F: 2) was also present in the bladder dome of 3. The relationship between the distribution of ERbeta in the bladder and gender was not different. ERbeta is present in the bladder trigone of rats independent of gender. Estrogen action in the bladder trigone is also important in males besides females.

本研究对大鼠膀胱中雌激素受体β (erβ)在性别上的定位进行了研究。采用逆转录聚合酶链反应技术(RT-PCR)检测ERbeta信号,对16只Sprague Dawley大鼠(雄性8只,雌性8只)膀胱穹丘和膀胱三角区进行了检测。采用卡方检验进行统计分析。13只大鼠膀胱中存在ERbeta, 3只大鼠膀胱中不存在ERbeta。13只大鼠的表达面为膀胱三角区,3只大鼠的膀胱穹窿中也有ERbeta (M: 1, F: 2)的表达。膀胱内erβ的分布与性别无明显关系。erβ存在于与性别无关的大鼠膀胱三角区。雌激素在膀胱三角区的作用除了对女性外,对男性也很重要。
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引用次数: 5
期刊
Archives of andrology
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