scholarly journals Balanced Reciprocal Translocation t(17;22)(p11.2;q11.2) and 10q23.31 Microduplication in a Infertility Male Suffering from Teratospermia

2021 ◽  
Author(s):  
Shan Huang ◽  
Huiling Wu ◽  
Yunwei Qi ◽  
Liqiang Wei ◽  
Xiaodan Lv ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
Developmental Disorder ◽  
Sperm Morphology ◽  
Chromosomal Abnormalities ◽  
Semen Quality ◽  
Factors Affecting ◽  
New Genes ◽  
Abnormal Sperm ◽  
First Case ◽  
Translocation Breakpoints

Abstract We describe the first case of two chromosomal abnormalities, balanced reciprocal translocation t(17;22)(p11.2;q11.2) and a microduplication in the region 10q23.31, in an infertility man suffering from teratospermia. Several genes located on the translocation breakpoints or the region of duplication show rich expression in the tissue of testis. They have been reported to be associated with developmental disorder and retardation, which might also be the risk factors affecting in spermatogonial differentiation and spermatogenesis. More studies should be carried out for identifification of new genes associated with semen quality. Our case might support the opinion that haploinsufficiency of the testis-expressed gene could be the cause of sperm immotility and abnormal sperm morphology. The two chromosomal abnormalities that carry additional reproductive risks, is apparently harmful with regard to the male infertility, and could contribute to the genomic instability resulting in disease.

scholarly journals Logistic Regression Analysis Factors Affecting Sperm Motility and Abnormal Sperm Morphology in Boars

Animals ◽  
2019 ◽  
Vol 9 (12) ◽  
pp. 1004
Author(s):  
Yinghui Wu ◽  
Chao Wang ◽  
Jiajian Tan ◽  
Hong-kui Wei ◽  
Haiqing Sun ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Sperm Motility ◽  
Seminal Plasma ◽  
Inductively Coupled Plasma ◽  
Sperm Morphology ◽  
Semen Quality ◽  
Factors Affecting ◽  
Logistic Regression Models ◽  
Inductively Coupled ◽  
Abnormal Sperm

Logistic regression models, including variables of boar breed, age, serum, and seminal plasma elements, were used to identify the influencing factors of sperm motility and morphology in this study. Sperm motility degree was classified as grade 0: ≤85% and grade 1: >85%. Abnormal sperm morphology was classified as grade 0: ≤10%, grade 1: 10–20%, and grade 2: >20%. Element concentration of 385 boars was detected by inductively coupled plasma mass spectrometry. Results showed that boars with serum Cu ≥ 2.5 mg/L had lower sperm motility (odds ratio (OR): 0.496; 95% confidence interval (CI): 0.285–0.864) and higher abnormal sperm morphology (OR: 2.003; 95% CI: 1.189–3.376) than those with serum Cu ≤ 2.0 mg/L. Boars with serum Fe ≥ 1.5 mg/L had lower abnormal sperm morphology than those with serum Fe ≤ 1.0 mg/L (OR: 0.463; 95% CI: 0.255–0.842). The presence of Pb in seminal plasma increased abnormal sperm morphology. The probability of abnormal sperm morphology >20% from boars with seminal plasma Pb increased with a range of 5.78–15.30% than that from boars without seminal plasma Pb among three breeds. In conclusion, serum Cu excess, serum Fe deficiency, and seminal plasma Pb are risk factors for poor semen quality in boars.

scholarly journals Factors affecting the semen quality of breeding bulls

2019 ◽  
Vol 35 (1-2) ◽  
pp. 32-39
Author(s):  
S Tohura ◽  
A Parvin ◽  
AB Siddique ◽  
M Assaduzzaman ◽  
BF Zohara ◽  
...  
Keyword(s):  
Sperm Morphology ◽  
Semen Quality ◽  
Body Condition Score ◽  
Semen Parameters ◽  
Subtropical Climate ◽  
Factors Affecting ◽  
Bull Semen ◽  
Scrotal Circumference ◽  
Holstein Friesian ◽  
Mass Activity

This study aimed to investigate the effects of breed, age, scrotal circumference, Body Condition Score (BCS), season and nutrition on bull semen quality at breeding bull station of Ejab Alliance Limited, Thakurgaon, Bangladesh. A total of 777 ejaculates were collected from 25 bulls (Holstein-Friesian-10; Sahiwal-15). All semen parameters were significantly (P<0.05) higher in Sahiwal bulls than in Holstein-Friesian. The volume, individual motility, mass activity and sperm morphology were significantly (P<0.05) higher in bulls aged >3.5 - 4.5 years than in younger (2.5 - 3.5 years) and older bulls (>4.5 years). Scrotal circumference significantly (P<0.05) affected all the parameters of semen quality. The highest values were observed in bulls with scrotal circumference 31.1 - 33.0 cm and the lowest in bulls with scrotal circumference of 33.1 cm and less. The volume, individual motility, mass activity and sperm morphology were higher (P<0.05) in bulls with BCS of 4 to 4.5 than in bulls with BCS of >4.5 to 5. Significantly (P<0.05) highest values regarding semen quality were in winter and the lowest in summer. Vitamin ADE supplementation significantly (P<0.05) improved the semen quality. It is suggested that Sahiwal breeds may be reared at the bull station in the subtropical climate of Bangladesh. Semen should be collected during winter in bulls of >3.5 to 4.5 years of age with moderate scrotal circumference and BCS. The Bangladesh Veterinarian (2018) 35(1&2): 32-39

scholarly journals Expression of Apoptosis-Related Genes in Cat Testicular Tissue in Relation to Sperm Morphology and Seasonality—A Preliminary Study

Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 489
Author(s):  
Sylwia Prochowska ◽  
Agnieszka Partyka ◽  
Wojciech Niżański
Keyword(s):  
Sperm Morphology ◽  
Semen Quality ◽  
Testicular Tissue ◽  
Reproductive Season ◽  
Tissue Samples ◽  
Protein Levels ◽  
Expression Of Genes ◽  
Testicular Regression ◽  
Preliminary Study ◽  
Apoptotic Genes

Apoptosis is a crucial process in spermatogenesis, responsible for the elimination of abnormal sperm cells and testicular regression out of breeding season. The aim of this study was to assess if the expression of apoptosis-related genes in testicular tissue of domestic cats differed: (1) between normozoospermic and teratozoospermic donors, and (2) between reproductive and non-reproductive season. The expression of genes: BCL2L1, BCL2, BAX, BAD, FAS, FASLG, and caspases (CASP3, CASP8, CASP9, and CASP10) was analyzed by qRT-PCR in testicular tissue samples. During non-reproductive season significantly higher expression of two anti-apoptotic genes (BCL2L1 and BCL2) was observed. Additionally, there was a significant higher expression of CASP10 in teratozoospermic cats during non-reproductive than during reproductive season. No differences were noted between normozoospermic and teratozoospermic groups. Upregulation of some genes during the non-reproductive season indicates engagement of apoptotic mechanisms in the seasonal changes of semen quality in cats, however further studies on protein levels and analysis of changes on distinct testicular germinal layers are required. At the same time, teratozoospermia in the general population of cats seems to be not connected with dysregulation of apoptosis in the testes.

scholarly journals Hemophagocytic Lymphohistiocytosis Complicating Erythroleukemia in a Child with Monosomy 7: A Case Report and Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Samin Alavi ◽  
Maryam Ebadi ◽  
Alireza Jenabzadeh ◽  
M. T. Arzanian ◽  
Sh. Shamsian
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Chromosomal Abnormalities ◽  
Bone Marrow Aspiration ◽  
Review Of The Literature ◽  
Monosomy 7 ◽  
Persistent Fever ◽  
First Case ◽  
Erythroid Precursors

Herein, the first case of childhood erythrophagocytosis following chemotherapy for erythroleukemia in a child with monosomy 7 is reported. A 5-year-old boy presented with anemia, thrombocytopenia, and hepatosplenomegaly in whom erythroleukemia was diagnosed. Prolonged pancytopenia accompanied by persistent fever and huge splenomegaly and hepatomegaly became evident after 2 courses of chemotherapy. On bone marrow aspiration, macrophages phagocytosing erythroid precursors were observed and the diagnosis of HLH was established; additionally, monosomy 7 was detected on bone marrow cytogenetic examination. In conclusion, monosomy 7 can lead to erythrophagocytosis associated with erythroid leukemia and should be considered among the chromosomal abnormalities contributing to the association.

scholarly journals A Triad of Congenital Diaphragmatic Hernia, Meckel’s Diverticulum, and Heterotopic Pancreas

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Parkash Mandhan ◽  
Amer Al Saied ◽  
Mansour J. Ali
Keyword(s):  
Case Report ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Chromosomal Abnormalities ◽  
Meckel’S Diverticulum ◽  
Pancreatic Tissue ◽  
Meckel's Diverticulum ◽  
Developmental Anomaly ◽  
Heterotopic Pancreatic Tissue ◽  
First Case

Congenital diaphragmatic hernia is a common developmental anomaly encountered by paediatric surgeons. It is known to be associated with extradiaphragmatic malformations, which include cardiac, renal, genital, and chromosomal abnormalities. Herein, we report a newborn born with concurrent congenital diaphragmatic hernia, Meckel’s diverticulum, and heterotopic pancreatic tissue. This is the first case report of such a triad with description of possible mechanisms of the development.

scholarly journals Relationship of arctic fox (Alopex lagopus L.) sperm morphology with age of males, sperm concentration, ejaculate volume and acrosin activity

2018 ◽  
Vol 18 (3) ◽  
pp. 741-752 ◽  
Author(s):  
Karolina Stasiak ◽  
Stanisław Kondracki ◽  
Maria Iwanina
Keyword(s):  
Sperm Morphology ◽  
Semen Quality ◽  
Morphological Changes ◽  
Sperm Concentration ◽  
Arctic Fox ◽  
Young Males ◽  
Arctic Foxes ◽  
Relationship Of ◽  
Acrosin Activity ◽  
Sperm Acrosome

Abstract The aim of the study was to determine the relationship of sperm morphology with age of males, ejaculate concentration and volume, as well as with acrosin activity determined in sperm acrosome extracts. The study used manually collected ejaculates from 9 male arctic foxes, including 6 young males aged one year and 3 older males (between 3 and 5 years of age). All of the 39 ejaculates used in the study were classified as normal based on motility exceeding 70%. The ejaculates collected from the foxes were evaluated for volume, sperm concentration and frequency of morphological changes including primary and secondary defects. The spermiograms of the male arctic foxes were classified according to a six-grade subjective scale. In addition, acrosin activity was determined in the sperm acrosome extracts. The data were analysed using the criteria of male age, sperm concentration, ejaculate volume, and acrosin activity. The morphology of arctic fox spermatozoa was dependent on the age of the male. A greater number of morphologically altered spermatozoa tended to occur in the ejaculates of young foxes, which were in their first breeding season. In addition, statistical analysis revealed positive relationships between the frequency of morphological changes in sperm and their ejaculate concentration. In contrast, there were no significant correlations between the percentages of morphologically changed spermatozoa and the ejaculate volume and the content of acrosin, which is an indicator of acrosomal integrity. Semen quality is dependent on the number of sperm in ejaculate with morphological defects which prevent oocyte fertilization. Therefore, morphological assessment of semen, which covers both the number and type of morphological changes, is highly useful when selecting appropriate males for reproduction.

scholarly journals The Tug1 Locus is Essential for Male Fertility

2019 ◽  
Author(s):  
Jordan P. Lewandowski ◽  
Gabrijela Dumbović ◽  
Audrey R. Watson ◽  
Taeyoung Hwang ◽  
Emily Jacobs-Palmer ◽  
...  
Keyword(s):  
Male Fertility ◽  
Sperm Morphology ◽  
Sperm Count ◽  
Initial Study ◽  
Genomic Region ◽  
Complete Penetrance ◽  
Abnormal Sperm ◽  
Lncrna Locus ◽  
Mammalian Genomes ◽  
Taurine Upregulated Gene 1

ABSTRACTBackgroundSeveral long noncoding RNAs (lncRNAs) have been shown to function as central components of molecular machines that play fundamental roles in biology. While the number of annotated lncRNAs in mammalian genomes has greatly expanded, their functions remain largely uncharacterized. This is compounded by the fact that identifying lncRNA loci that have robust and reproducible phenotypes when mutated has been a challenge.ResultsWe previously generated a cohort of 20 lncRNA loci knockout mice. Here, we extend our initial study and provide a more detailed analysis of the highly conserved lncRNA locus, Taurine Upregulated Gene 1 (Tug1). We report that Tug1 knockout male mice are sterile with complete penetrance due to a low sperm count and abnormal sperm morphology. Having identified a lncRNA loci with a robust phenotype, we wanted to determine which, if any, potential elements contained in the Tug1 genomic region (DNA, RNA, protein, or the act of transcription) have activity. Using engineered mouse models and cell-based assays, we provide evidence that the Tug1 locus harbors three distinct regulatory activities – two noncoding and one coding: (i) a cis DNA repressor that regulates many neighboring genes, (ii) a lncRNA that can regulate genes by a trans-based function, and finally (iii) Tug1 encodes an evolutionary conserved peptide that when overexpressed impacts mitochondrial membrane potential.ConclusionsOur results reveal an essential role for the Tug1 locus in male fertility and uncover three distinct regulatory activities in the Tug1 locus, thus highlighting the complexity present at lncRNA loci.

scholarly journals Whole-Exome Sequencing Analysis of Human Semen Quality in Russian Multiethnic Population

2021 ◽  
Vol 12 ◽  
Author(s):  
Semyon Kolmykov ◽  
Gennady Vasiliev ◽  
Ludmila Osadchuk ◽  
Maxim Kleschev ◽  
Alexander Osadchuk
Keyword(s):  
Exome Sequencing ◽  
Ethnic Groups ◽  
Whole Exome Sequencing ◽  
Complex Traits ◽  
Semen Quality ◽  
Population Sample ◽  
Sperm Concentration ◽  
Sequencing Analysis ◽  
New Genes ◽  
Whole Exome

The global trend toward the reduction of human spermatogenic function observed in many countries, including Russia, raised the problem of extensive screening and monitoring of male fertility and elucidation of its genetic and ethnic mechanisms. Recently, whole-exome sequencing (WES) was developed as a powerful tool for genetic analysis of complex traits. We present here the first Russian WES study for identification of new genes associated with semen quality. The experimental 3 × 2 design of the WES study was based on the analysis of 157 samples including three ethnic groups—Slavs (59), Buryats (n = 49), and Yakuts (n = 49), and two different semen quality groups—pathozoospermia (n = 95) and normospermia (n = 62). Additionally, our WES study group was negative for complete AZF microdeletions of the Y-chromosome. The normospermia group included men with normal sperm parameters in accordance with the WHO-recommended reference limit. The pathozoospermia group included men with impaired semen quality, namely, with any combined parameters of sperm concentration &lt;15 × 106/ml, and/or progressive motility &lt;32%, and/or normal morphology &lt;4%. The WES was performed for all 157 samples. Subsequent calling and filtering of variants were carried out according to the GATK Best Practices recommendations. On the genotyping stage, the samples were combined into four cohorts: three sets corresponded to three ethnic groups, and the fourth set contained all the 157 whole-exome samples. Association of the obtained polymorphisms with semen quality parameters was investigated using the χ2 test. To prioritize the obtained variants associated with pathozoospermia, their effects were determined using Ensembl Variant Effect Predictor. Moreover, polymorphisms located in genes expressed in the testis were revealed based on the genomic annotation. As a result, the nine potential SNP markers rs6971091, rs557806, rs610308, rs556052, rs1289658, rs278981, rs1129172, rs12268007, and rs17228441 were selected for subsequent verification on our previously collected population sample (about 1,500 males). The selected variants located in seven genes FAM71F1, PPP1R15A, TRIM45, PRAME, RBM47, WDFY4, and FSIP2 that are expressed in the testis and play an important role in cell proliferation, meiosis, and apoptosis.

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