scholarly journals Aneuploidy in sperm of fertile men and patients with impaired fertility

2021 ◽  
Vol 22 (4) ◽  
pp. 27-35
Author(s):  
A. O. Sedova ◽  
A. I. Martemyanova ◽  
V. B. Chernykh

The review presents generalized current data on sperm aneuploidy in healthy (fertile) men and infertile male patients with a normal karyotype and with chromosomal abnormalities. The mechanisms of aneuploidy in germ cells, factors affecting of its level, the relationship with defects of spermatogenesis, meiosis, decreased sperm parameters, as well as the effect of sperm aneuploidy on male fertility, embryo development and gestation are discussed.

Andrologia ◽  
2014 ◽  
Vol 47 (8) ◽  
pp. 847-860 ◽  
Author(s):  
A. Chatziparasidou ◽  
N. Christoforidis ◽  
G. Samolada ◽  
M. Nijs

Reproduction ◽  
2001 ◽  
pp. 655-666 ◽  
Author(s):  
Q Shi ◽  
RH Martin

Reproductive difficulties are associated intimately with cytogenetic abnormalities. This article reviews multicolour fluorescence in situ hybridization studies on spermatozoa from men with constitutional chromosomal abnormalities and the consequences for spermatozoa, and on chromosomal abnormalities in the spermatozoa of infertile men who have normal somatic karyotypes. In 47,XYY men, the frequencies of 24,XY and 24,YY spermatozoa appear to be < or = 1%. Klinefelter (47,XXY) and mosaic Klinefelter patients had sperm aneuploidy frequencies of 2-25% and 1.5-7.0%, respectively. Robertsonian translocation carriers had 3-27% spermatozoa unbalanced for the chromosomes involved in the translocation, with a possible modest interchromosomal effect, but none of the increased frequencies of chromosomal disomy approached 1%. The frequency of chromosomally unbalanced spermatozoa in reciprocal translocations averages 50%, is strongly dependent on the chromosomes involved in the individual translocation, and may be slightly increased as a result of a small interchromosomal effect. Infertile men with a normal karyotype and low sperm concentration or certain types of morphologically abnormal spermatozoa have a significantly increased risk of producing aneuploid spermatozoa, particularly for the sex chromosomes. An increased risk of sperm aneuploidy was not observed in infertile men with poor sperm motility or in those with a normal karyotype and normal semen parameters.


2020 ◽  
Vol 16 (5) ◽  
pp. 935-945
Author(s):  
I.A. Zaikova

Subject. The working time of workers at any stage of economic development is a value reflecting the level of labor productivity. Any progress in productivity contributes to changes in the volume of labor costs and the number of employed. Depending on the relationship between the total volume of labor costs and the number of employed, the duration of working time per one worker may change (it may increase, decrease, or remain unchanged). Objectives. The study aims to confirm the importance of such a macroeconomic indicator as the number of employed in varying working hours. Methods. The study rests on the comparative analysis of countries with developed economies based on some indicators like dynamics of the working time fund, dynamics of the number of employed, average number of hours worked during the year per employee, etc. The analyzed timespan is 25 years (from 1991 to 2016). Results. The comparative analysis revealed that in the non-production sphere and the economy as a whole the macroeconomic determinants correlate so that the length of working time per worker reduces. When considering the analysis results for the manufacturing sector, no single trend was identified. Conclusions. One of the key factors affecting the change in working hours is the number of employed. The relationship between the working time fund and the number of employed directly determines the dynamics of working time per worker.


Author(s):  
N.P. Veropotvelyan, A.A. Bondarenko

Objective. To evaluate the pre- and postnatal outcomes of euploid fetuses with aplasia/hypoplasia of the nasal bones (NB). Methods. We have made the catamnestic monitoring of children with a normal karyotype, who had been prenatally detected NB aplasia or hypoplasia (less than 5 perentile) at 11–24 weeks of gestation at ultrasound screening in the period between 2006–2015 years. Our study included a selection of 242 fetuses with NB aplasia or hypoplasia, in 128 (52.8 %) of them the NB was not visualized or appeared as an echogenic dot only. Results. Among all 63 fetuses with NB aplasia (absence or looks as an echogenic dot) in the 1st trimester in 24 (38 %) cases chromosomal abnormalities (CA) were found (including T21 — 15 (62.5 %) cases). Other 39 (61.9 %) fetuses had a normal karyotype. Among 65 fetuses with NB aplasia, examined in the 2nd trimester of gestation 12 (18.4 %) cases of CA were detected (one fetus with T21 had the only one ultrasound marker – isolated NB aplasia), 53 (81.5 %) fetuses had a normal karyotype. 62 mothers of the euploid fetuses with NB aplasia had been surveyed. We have received and analyzed 31 (50 %) responses. In 16 cases of euploid fetuses with NB, aplasia pregnancy outcome was adverse or relatively unfavorable, only 5 (31.2 %) fetuses of them had isolated NB aplasia. In other cases healthy full-term infants were born, who showed normal height and weight indexes, physical and psychomotor development observed in age from 0 to 10. Conclusion. In 51.6 % fetuses and children prenatally had aplasia of the nasal bone was marked by unfavorable pre- or postnatal outcome, according to the survey of their mothers.


Author(s):  
Miyoung Lee ◽  
Yeon-Suk Kim ◽  
Mi-Kyoung Lee

Prenatal depression is an important factor in predicting postpartum depression. Most studies have assessed factors affecting prenatal depression by focusing on pregnant wives. However, the emotional and psychological aspects of both expectant parents need to be considered. Therefore, the purpose of this study was to examine the effect of spouse-related stress in expectant couples on prenatal depression and investigate the mediating effects of marital intimacy on this relationship. A total of 120 expectant couples from two cities in Korea at more than 15 weeks of completed pregnancy participated in the study. Using a structured questionnaire, we assessed the general characteristics of the participants, spouse-related stress, prenatal depression, and marital intimacy. The results revealed that four actor effects and one partner effect were significant. Marital intimacy and prenatal depression among expectant parents were affected by spouse-related stress. Moreover, spouse-related stress in the husbands completely mediated marital intimacy in pregnant wives, demonstrating partner effects on prenatal depression in pregnant wives. Therefore, it was observed that paternal factors affect prenatal depression in pregnant wives. This warrants the inclusion of husbands in marital interventions and strategies to improve marital intimacy in pregnant wives.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yufang Xiang ◽  
Yuanyuan Zheng ◽  
Shaobo Liu ◽  
Gang Liu ◽  
Zhi Li ◽  
...  

AbstractWestern blotting (WB) is one of the most widely used techniques to identify proteins as well as post translational modifications of proteins. The selection of electroblotted membrane is one of the key factors affecting the detection sensitivity of the protein which is transferred from gel to membrane in WB. The most common used membranes are polyvinylidene fluoride (PVDF) and nitrocellulose (NC) membranes. Which membrane of these two is more suitable for WB has not been reported so far. Here, by incubating proteins which were transferred to PVDF or NC membranes with a series of antibodies and different types of lectins, we investigated the relationship between the binding ability of these two membranes to proteins or glycoproteins and the molecular weight of the target protein. The antibody re-probed ability of the two membranes was also explored. Moreover, we verified the above results by directly incubating proteins having different molecular weights onto PVDF or NC membranes. Bound proteins were stained with direct blue-71, and the staining intensity was quantitated by scanning and densitometry.


2020 ◽  
Author(s):  
Antonio Dono ◽  
Victor Lopez-Rivera ◽  
Ankush Chandra ◽  
Cole T Lewis ◽  
Rania Abdelkhaleq ◽  
...  

Abstract Background Pleomorphic xanthoastrocytomas (PXA) are circumscribed gliomas that typically have a favorable prognosis. Limited studies have revealed factors affecting survival outcomes in PXA. Here, we analyzed the largest PXA dataset in the literature and identify factors associated with outcomes. Methods Using the Surveillance, Epidemiology, and End Results (SEER) 18 Registries database, we identified histologically confirmed PXA patients between 1994 and 2016. Overall survival (OS) was analyzed using Kaplan-Meier survival and multivariable Cox proportional hazard models. Results In total, 470 patients were diagnosed with PXA (males = 53%; median age = 23 years [14-39 years]), the majority were Caucasian (n = 367; 78%). The estimated mean OS was 193 months [95% CI: 179-206]. Multivariate analysis revealed that greater age at diagnosis (≥39 years) (3.78 [2.16-6.59], P &lt; .0001), larger tumor size (≥30 mm) (1.97 [1.05-3.71], P = .034), and postoperative radiotherapy (RT) (2.20 [1.31-3.69], P = .003) were independent predictors of poor OS. Pediatric PXA patients had improved survival outcomes compared to their adult counterparts, in which chemotherapy (CT) was associated with worse OS. Meanwhile, in adults, females and patients with temporal lobe tumors had an improved survival; conversely, tumor size ≥30 mm and postoperative RT were associated with poor OS. Conclusions In PXA, older age and larger tumor size at diagnosis are risk factors for poor OS, while pediatric patients have remarkably improved survival. Postoperative RT and CT appear to be ineffective treatment strategies while achieving GTR confer an improved survival in male patients and remains the cornerstone of treatment. These findings can help optimize PXA treatment while minimizing side effects. However, further studies of PXAs with molecular characterization are needed.


Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1286
Author(s):  
Junya Sato ◽  
Kazunari Nakahara ◽  
Yosuke Michikawa ◽  
Ryo Morita ◽  
Keigo Suetani ◽  
...  

Endoscopic transpapillary gallbladder drainage (ETGBD) for acute cholecystitis is challenging. We evaluated the influence of pre-procedural imaging and cystic duct cholangiography on ETGBD. Patients who underwent ETGBD for acute cholecystitis were retrospectively examined. The rate of gallbladder contrast on cholangiography, the accuracy of cystic duct direction and location by computed tomography (CT) and magnetic resonance cholangiopancreatography (MRCP), and the relationship between pre-procedural imaging and the technical success of ETGBD were investigated. A total of 145 patients were enrolled in this study. Gallbladder contrast on cholangiography was observed in 29 patients. The accuracy of cystic duct direction and location (proximal or distal, right or left, and cranial or caudal) by CT were, respectively, 79%, 60%, and 58% by CT and 68%, 55%, and 58% by MRCP. Patients showing gallbladder contrast on cholangiography underwent ETGBD with a significantly shorter procedure time and a lower rate of cystic duct injury. No other factors affecting procedure time, technical success, and cystic duct injury were identified. Pre-procedural evaluation of cystic duct direction and location by CT or MRCP was difficult in patients with acute cholecystitis. Patients who showed gallbladder contrast on cholangiography showed a shorter procedure time and a lower rate of cystic duct injury.


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