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Azoospermia

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https://www.readbyqxmd.com/read/28642479/a-genetically-enhanced-sterile-insect-technique-against-the-fruit-fly-bactrocera-dorsalis-hendel-by-feeding-adult-double-stranded-rnas
#1
Muhammad Waqar Ali, Wenping Zheng, Summar Sohail, Qingmei Li, Weiwei Zheng, Hongyu Zhang
RNAi based sterile insect technique (SIT) is an authentic insect management approach but requires proper target genes. During this study, spermless males were developed by interfering with germ cell differentiation and azoospermia related genes. Data demonstrates significant reductions in the target genes expressions (boul, zpg, dsx (M) , fzo and gas8) after oral dsRNAs administration. Knock down of target genes significantly affected the reproductive ability of males and reduced egg-hatching as compared to the control group...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28635411/single-nucleotide-polymorphisms-in-the-human-rad21l-gene-may-be-a-genetic-risk-factor-for-japanese-patients-with-azoospermia-caused-by-meiotic-arrest-and-sertoli-cell-only-syndrome
#2
Gaku Minase, Toshinobu Miyamoto, Yasushi Miyagawa, Masashi Iijima, Hiroto Ueda, Yasuaki Saijo, Mikio Namiki, Kazuo Sengoku
Genetic mechanisms are implicated in some cases of male infertility. Recently, it was demonstrated that male mice lacking the gene for RAD21L exhibited azoospermia caused by meiotic arrest. Mouse RAD21L is a functionally relevant meiotic α-kleisin that is essential for male fertility. Therefore, we hypothesized that RAD21L mutations or polymorphisms may be associated with male infertility, especially azoospermia secondary to meiotic arrest. To determine if RAD21L defects are associated with azoospermia in groups of patients with meiotic arrest, we performed direct sequencing of the RAD21L coding regions in 38 Japanese patients with meiotic arrest and in 200 normal controls...
February 21, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28627638/meiotic-defects-and-decreased-expression-of-genes-located-around-the-chromosomal-breakpoint-in-the-testis-of-a-patient-with-a-novel-46-x-t-y-1-p11-3-p31-translocation
#3
Guangyuan Li, Furhan Iqbal, Liu Wang, Zhipeng Xu, Xiaoyan Che, Wen Yu, Liang Shi, Tonghang Guo, Guixiang Zhou, Xiaohua Jiang, Huan Zhang, Yuanwei Zhang, Dexin Yu
Balanced translocations are known to be associated with infertility, spontaneous abortions and birth defects in mammals. Spermatocyte spreading and immunostaining were applied to detect meiotic prophase I progression, homologous chromosome pairing, synapsis and recombination in an azoospermic reciprocal translocation 46,X,t(Y;1)(p11.3;p31) carrier. Histological examination of testicular sections revealed a severely reduced number of germ cells with no spermatids or sperm in the carrier. A significant reduction in XY recombination was observed in the patient...
June 14, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28614535/should-azoospermic-patients-with-varicocele-disease-undergo-surgery-to-recover-fertility
#4
Leonardo de Souza Alves, Francisco Batista de Oliveira
Introduction: Varicocele disease is well-known cause of infertility in men. The presence of spermatic varices veins create a hostile environment to spermatogenesis. It results in reduced quality of the sperm production and in some cases can determine a total absence of sperm. The varicocelectomy procedure in patients with non-obstructive azoospermia (NOA) can raise the rates of sperm in the semen analysis. A positive rate for sperm, even if very low, may be sufficient to enable the capture of sperm intended for in-vitro fertilization without the use of donor sperm...
April 2017: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/28611373/is-there-any-clinical-relevant-difference-between-non-mosaic-klinefelter-syndrome-patients-with-or-without-androgen-receptor-variations
#5
Umberto Valente, Cinzia Vinanzi, Savina Dipresa, Riccardo Selice, Massimo Menegazzo, Massimo Iafrate, Carlo Foresta, Andrea Garolla
Klinefelter Syndrome (KS) is the most common chromosomal disorder in men leading to non-obstructive azoospermia. Spermatozoa can be found by TESE in about 50% of adults with KS despite severe testicular degeneration. We evaluated AR variations and polymorphism length in 135 non-mosaic KS patients, aimed to find possible correlation with clinical features, sex hormones and sperm retrieval. Among 135 KS patients we found AR variations in eight subjects (5.9%). All variations but one caused a single amino acid substitution...
June 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28611019/mechanisms-in-endocrinology-aberrations-of-the-x-chromosome-as-cause-of-male-infertility
#6
Albrecht Röpke, Frank Tüttelmann
Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or azoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistently with Ohno's law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno's law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis...
June 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28601348/genetic-diagnostics-of-male-infertility-in-clinical-practice
#7
REVIEW
Ryan Flannigan, Peter N Schlegel
Approximately 15% of couples are infertile. Male factors contribute to infertility in over 50% of cases. Identifiable genetic abnormalities contribute to 15%-20% of the most severe forms of male infertility, azoospermia. In this chapter, we explore known genetic causes of male infertility such as Klinefelter syndrome, XYY men, Kallmann syndrome, y-microdeletions, Robertsonian translocations, autosomal inversions, mixed gonadal dysgenesis, x-linked and autosomal gene mutations, and cystic fibrosis transmembrane conductance regulator abnormalities...
May 10, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28597829/urogenital-infection-as-a-risk-factor-for-male-infertility
#8
Hans-Christian Schuppe, Adrian Pilatz, Hamid Hossain, Thorsten Diemer, Florian Wagenlehner, Wolfgang Weidner
BACKGROUND: Infections of the genital tract are considered common causes of male fertility disorders, with a prevalence of 6-10%. Most of the affected men are asymptomatic. The diagnostic evaluation is based mainly on laboratory testing. Inconsistent diagnostic criteria have been applied to date, and this may explain the controversial debate about the role of infection and inflammation in the genital tract as a cause of infertility. The risk of an irreversible fertility disorder should not be underestimated...
May 12, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28569117/testicular-ultrasensitive-doppler-preliminary-experience-a-feasibility-study
#9
Laurence Rocher, Jean-Luc Gennisson, Sophie Ferlicot, Aline Criton, Laurence Albiges, Vincent Izard, Marie France Bellin, Jean-Michel Correas
Background Ultrasensitive Doppler is a novel non-invasive ultrasound (US) Doppler technique that improves sensitivity and resolution for the detection of slow flow. Purpose To investigate the feasibility of ultrasensitive Doppler (USD) for testicular disease diagnosis, using both qualitative and quantitative results. Material and Methods This prospective study was conducted in 160 successive men referred for scrotal US including B-mode and conventional Color-Doppler. A new USD sequence and algorithm dedicated to academic research were implemented into the US system...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28559344/viral-and-cellular-mrna-specific-activators-harness-pabp-and-eif4g-to-promote-translation-initiation-downstream-of-cap-binding
#10
Richard W P Smith, Ross C Anderson, Osmany Larralde, Joel W S Smith, Barbara Gorgoni, William A Richardson, Poonam Malik, Sheila V Graham, Nicola K Gray
Regulation of mRNA translation is a major control point for gene expression and is critical for life. Of central importance is the complex between cap-bound eukaryotic initiation factor 4E (eIF4E), eIF4G, and poly(A) tail-binding protein (PABP) that circularizes mRNAs, promoting translation and stability. This complex is often targeted to regulate overall translation rates, and also by mRNA-specific translational repressors. However, the mechanisms of mRNA-specific translational activation by RNA-binding proteins remain poorly understood...
May 30, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28557008/influence-of-tnf-alpha-inhibitors-and-fumaric-acid-esters-on-male-fertility-in-psoriasis-patients
#11
F Heppt, A Colsman, A Maronna, U Uslu, M V Heppt, F Kiesewetter, M Sticherling
OBJECTIVE: Is there any influence of a therapy with TNF alpha inhibitors or fumaric acid esters and of disease activity status on male fertility and sperm quality in psoriasis patients?. METHODS: In this monocentric, open-label, prospective study, semen samples were collected from patients receiving either TNF alpha inhibitors or fumaric acid esters for moderate to severe plaque psoriasis. Semen was analysed at baseline before onset of the systemic therapy and monitored every three months under therapy...
May 30, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28554943/spink2-deficiency-causes-infertility-by-inducing-sperm-defects-in-heterozygotes-and-azoospermia-in%C3%A2-homozygotes
#12
Zine-Eddine Kherraf, Marie Christou-Kent, Thomas Karaouzene, Amir Amiri-Yekta, Guillaume Martinez, Alexandra S Vargas, Emeline Lambert, Christelle Borel, Béatrice Dorphin, Isabelle Aknin-Seifer, Michael J Mitchell, Catherine Metzler-Guillemain, Jessica Escoffier, Serge Nef, Mariane Grepillat, Nicolas Thierry-Mieg, Véronique Satre, Marc Bailly, Florence Boitrelle, Karin Pernet-Gallay, Sylviane Hennebicq, Julien Fauré, Serge P Bottari, Charles Coutton, Pierre F Ray, Christophe Arnoult
Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic brothers allowed the identification of a homozygous splice mutation in SPINK2, encoding a serine protease inhibitor believed to target acrosin, the main sperm acrosomal protease. In accord with these findings, we observed that homozygous Spink2 KO male mice had azoospermia. Moreover, despite normal fertility, heterozygous male mice had a high rate of morphologically abnormal spermatozoa and a reduced sperm motility...
May 29, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28553232/integrated-analysis-of-dna-methylation-and-mrna-expression-profiles-to-identify-key-genes-in-severe-oligozoospermia
#13
Zhiming Li, Xuan Zhuang, Jinxiong Zeng, Chi-Meng Tzeng
Severe oligozoospermia (SO) is a complex disorder, whose etiology is the combined effect of genetic factors and epigenetic conditions. In this study, we examined DNA methylation and mRNA expression status in a set of testicular tissues of SO patients (n = 3), and compared methylated data with those derived from obstructive azoospermia (OA) patients (n = 3) with normal spermatogenesis phenotype. We identified 1,960 differentially methylated CpG sites showing significant alterations in SO vs. OA using the Illumina Infinium HumanMethylation450 bead array...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28552346/ubiquitination-deficient-mutations-in-human-piwi-cause-male-infertility-by-impairing-histone-to-protamine-exchange-during-spermiogenesis
#14
Lan-Tao Gou, Jun-Yan Kang, Peng Dai, Xin Wang, Feng Li, Shuang Zhao, Man Zhang, Min-Min Hua, Yi Lu, Yong Zhu, Zheng Li, Hong Chen, Li-Gang Wu, Dangsheng Li, Xiang-Dong Fu, Jinsong Li, Hui-Juan Shi, Mo-Fang Liu
Genetic studies have elucidated critical roles of Piwi proteins in germline development in animals, but whether Piwi is an actual disease gene in human infertility remains unknown. We report germline mutations in human Piwi (Hiwi) in patients with azoospermia that prevent its ubiquitination and degradation. By modeling such mutations in Piwi (Miwi) knockin mice, we demonstrate that the genetic defects are directly responsible for male infertility. Mechanistically, we show that MIWI binds the histone ubiquitin ligase RNF8 in a Piwi-interacting RNA (piRNA)-independent manner, and MIWI stabilization sequesters RNF8 in the cytoplasm of late spermatids...
June 1, 2017: Cell
https://www.readbyqxmd.com/read/28540245/can-we-reliably-predict-sperm-recovery-in-semen-of-nonobstructive-azoospermia-men-after-varicocele-repair-answers-are-awaited
#15
EDITORIAL
Taha Abo-Almagd Abdel-Meguid
No abstract text is available yet for this article.
April 2017: Translational Andrology and Urology
https://www.readbyqxmd.com/read/28540237/serum-testosterone-levels-and-other-determinants-of-sperm-retrieval-in-microdissection-testicular-sperm-extraction
#16
Sultan A Althakafi, Osama M Mustafa, Raouf M Seyam, Naif Al-Hathal, Said Kattan
BACKGROUND: Microdissection testicular sperm extraction (microTESE) has become the standard of care for sperm retrieval in non-obstructive azoospermia (NOA) patients. Understanding the significant determinants of microTESE outcomes may result in improvements in sperm retrieval rates and provide better-informed clinical decisions. METHODS: This is a clinical retrospective study conducted through chart review of 421 NOA patients who underwent microTESE between August 2009 and July 2015 in a tertiary-care referral hospital...
April 2017: Translational Andrology and Urology
https://www.readbyqxmd.com/read/28540235/improvement-of-motility-after-culture-of-testicular-spermatozoa-the-effects-of-incubation-timing-and-temperature
#17
Akram Hosseini, Mohammad Ali Khalili
BACKGROUND: Sperm motility is the reliable parameter that roles in success of intracytoplasmic sperm injection (ICSI), especially in azoospermia. Selection of appropriate culture duration, temperature and media for enhancing the sperm motility is an important issue in assisted reproduction program. The aim was to evaluate the sperm motion characteristics after culturing of testicular sperm extraction (TESE) samples at different temperatures and time intervals. METHODS: In this prospective study, 27 TESE samples were collected from young azoospermic patients...
April 2017: Translational Andrology and Urology
https://www.readbyqxmd.com/read/28536242/mutation-in-tdrd9-causes-non-obstructive-azoospermia-in-infertile-men
#18
Maram Arafat, Iris Har-Vardi, Avi Harlev, Eliahu Levitas, Atif Zeadna, Maram Abofoul-Azab, Victor Dyomin, Val C Sheffield, Eitan Lunenfeld, Mahmoud Huleihel, Ruti Parvari
BACKGROUND: Azoospermia is diagnosed when sperm cells are completely absent in the ejaculate even after centrifugation. It is identified in approximately 1% of all men and in 10%-20% of infertile males. Non-obstructive azoospermia (NOA) is characterised by the absence of sperm due to either a Sertoli cell-only pattern, maturation arrest, hypospermatogenesis or mixed patterns. NOA is a severe form of male infertility, with limited treatment options and low fertility success rates. In the majority of patients, the cause for NOA is not known and mutations in only a few genes were shown to be causative...
May 23, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28534947/research-and-progress-on-clc%C3%A2-2-review
#19
Hongwei Wang, Minghui Xu, Qingjie Kong, Peng Sun, Fengyun Yan, Wenying Tian, Xin Wang
Chloride channel 2 (ClC-2) is one of the nine mammalian members of the ClC family. The present review discusses the molecular properties of ClC‑2, including CLCN2, ClC‑2 promoter and the structural properties of ClC‑2 protein; physiological properties; functional properties, including the regulation of cell volume. The effects of ClC‑2 on the digestive, respiratory, circulatory, nervous and optical systems are also discussed, in addition to the mechanisms involved in the regulation of ClC‑2. The review then discusses the diseases associated with ClC‑2, including degeneration of the retina, Sjögren's syndrome, age‑related cataracts, degeneration of the testes, azoospermia, lung cancer, constipation, repair of impaired intestinal mucosa barrier, leukemia, cystic fibrosis, leukoencephalopathy, epilepsy and diabetes mellitus...
July 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28522219/racial-variation-in-semen-quality-at-fertility-evaluation
#20
Yash S Khandwala, Chiyuan A Zhang, Shufeng Li, Barry Behr, David Guo, Michael L Eisenberg
OBJECTIVE: To identify racial differences in semen quality among men living in the same geographic area seeking fertility evaluation. METHODS: Men obtaining a semen analysis for infertility evaluation or treatment between 2012 and 2016 at a single center were identified and demographic data including height, weight, BMI and age were described. Mean semen parameters and the proportions of men with suboptimal parameters based on the WHO 5(th) edition criteria were also compared based on race...
May 15, 2017: Urology
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