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Human infertility

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https://www.readbyqxmd.com/read/29152903/reproductive-endocrine-phenotypes-relating-to-chd7-mutations-in-humans
#1
REVIEW
Ravikumar Balasubramanian, William F Crowley
Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi-organ syndromic disorder. Gonadal defects are common in individuals with CHARGE syndrome (seen in ∼60-80% of cases) and represent the letter "G" in the CHARGE syndrome acronym. The gonadal defect in CHARGE syndrome results from congenital deficiency of the hypothalamic hormone Gonadotropin-releasing hormone (GnRH), which manifests clinically as pubertal failure and infertility, and biochemically as hypogonadotropic hypogonadism (low sex steroid hormone levels with inappropriately normal or low gonadotropin levels)...
November 20, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29150651/comprehensive-functional-enrichment-analysis-of-male-infertility
#2
Seyed Morteza Razavi, Marjan Sabbaghian, Mahdi Jalili, Adeleh Divsalar, Olaf Wolkenhauer, Ali Salehzadeh-Yazdi
Spermatogenesis is a multifactorial process that forms differentiated sperm cells in a complex microenvironment. This process involves the genome, epigenome, transcriptome, and proteome to ensure the stability of the spermatogonia and supporting cells. The identification of signaling pathways linked to infertility has been hampered by the inherent complexity and multifactorial aspects of spermatogenesis. Systems biology is a promising approach to unveil underlying signaling pathways and genes and identify putative biomarkers...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29149327/focused-time-lapse-analysis-reveals-novel-aspects-of-human-fertilization-and-suggests-new-parameters-of-embryo-viability
#3
G Coticchio, M Mignini Renzini, P V Novara, M Lain, E De Ponti, D Turchi, R Fadini, M Dal Canto
STUDY QUESTION: Can focused application of time-lapse microscopy (TLM) lead to a more detailed map of the morphokinetics of human fertilization, revealing novel or neglected aspects of this process? SUMMARY ANSWER: Intensive harnessing of TLM reveals novel or previously poorly characterised phenomena of fertilization, such as a cytoplasmic wave (CW) preceding pronuclear formation and kinetics of pronuclear chromatin polarization, thereby suggesting novel non-invasive biomarkers of embryo quality...
November 15, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29148520/an-in-vitro-prototype-of-a-porcine-biomimetic-testis-like-cell-culture-system-a-novel-tool-for-the-study-of-reassembled-sertoli-and-leydig-cells
#4
Iva Arato, Giovanni Luca, Francesca Mancuso, Catia Bellucci, Cinzia Lilli, Mario Calvitti, Barbara C Hansen, Domenico Milardi, Giuseppe Grande, Riccardo Calafiore
At present, there is no reliable in vitro assembled prepubertal testis-like biomimetic organ culture system designed to assess the functional effects of human gonadotropins on Sertoli and Leydig cells. Spermatogenesis is regulated by endocrine, paracrine, and juxtacrine factors (testicular cross-talk), mainly orchestrated by gonadotropins such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH) that play a pivotal role by stimulating Leydig and Sertoli cells, respectively. The aim of our study was to set up an in vitro prepubertal porcine bioengineered construct as a new model for experimental studies on reassembled Sertoli and Leydig cells...
November 10, 2017: Asian Journal of Andrology
https://www.readbyqxmd.com/read/29147461/the-role-of-antioxidant-enzymes-in-the-ovaries
#5
REVIEW
Shan Wang, Guolin He, Meng Chen, Tao Zuo, Wenming Xu, Xinghui Liu
Proper physiological function of the ovaries is very important for the entire female reproductive system and overall health. Reactive oxygen species (ROS) are generated as by-products during ovarian physiological metabolism, and antioxidants are indicated as factors that can maintain the balance between ROS production and clearance. A disturbance in this balance can induce pathological consequences in oocyte maturation, ovulation, fertilization, implantation, and embryo development, which can ultimately influence pregnancy outcomes...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29146461/resveratrol-supports-and-alpha-naphthoflavone-disrupts-growth-of-human-ovarian-follicles-in-an-in-vitro-tissue-culture-model
#6
Jie Hao, Astrud R Tuck, Marcus O D Sjödin, Johan Lindberg, Anna Sand, Boel Niklasson, Maria Argyraki, Outi Hovatta, Pauliina Damdimopoulou
Infertility is a global health problem with an estimated incidence of 15%. Exposure to chemicals is a potential causal factor, and there is a lack of studies examining the effects on female germ cells. Here, we have studied the impact of different aryl hydrocarbon receptor (AHR) modulators on human ovarian follicles using a human ovarian tissue culture model. Expression of AHR was analyzed in tissue samples, and effects of the selected ligands resveratrol (RSVL), 6-formylindolo(3,2-b)carbazole (FICZ), and alpha-naphthoflavone (aNF) on AHR transactivation studied in a granulosa cell tumor line...
November 13, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29145898/making-gametes-from-alternate-sources-of-stem-cells-past-present-and-future
#7
REVIEW
Deepa Bhartiya, Sandhya Anand, Hiren Patel, Seema Parte
Infertile couples including cancer survivors stand to benefit from gametes differentiated from embryonic or induced pluripotent stem (ES/iPS) cells. It remains challenging to convert human ES/iPS cells into primordial germ-like cells (PGCLCs) en route to obtaining gametes. Considerable success was achieved in 2016 to obtain fertile offspring starting with mouse ES/iPS cells, however the specification of human ES/iPS cells into PGCLCs in vitro is still not achieved. Human ES cells will not yield patient-specific gametes unless and until hES cells are derived by somatic cell nuclear transfer (therapeutic cloning) whereas iPS cells retain the residual epigenetic memory of the somatic cells from which they are derived and also harbor genomic and mitochondrial DNA mutations...
November 16, 2017: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/29145645/waddlia-chondrophila-a-chlamydia-related-bacterium-has-a-negative-impact-on-human-spermatozoa
#8
D Baud, N Vulliemoz, A Ammerdorffer, J Gyger, G Greub, V Castella, M Stojanov
STUDY QUESTION: What is the impact of Waddlia chondrophila, an emerging Chlamydia-related bacterium associated with miscarriage, on human spermatozoa? SUMMARY ANSWER: W. chondrophila had a negative impact on human spermatozoa (decrease in viability and mitochondrial membrane potential) and was not entirely removed from infected samples by density gradient centrifugation. WHAT IS KNOWN ALREADY: Bacterial infection or colonization might have a deleterious effect on male fertility...
November 14, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29142450/autologous-intrauterine-platelet-rich-plasma-instillation-for-suboptimal-endometrium-in-frozen-embryo-transfer-cycles-a-pilot-study
#9
Sunita R Tandulwadkar, Manasi V Naralkar, Akash D Surana, M Selvakarthick, Avinash H Kharat
Introduction: This pilot study was to evaluate the effectiveness of intrauterine infusion of autologous platelet-rich plasma (PRP) in infertile women undergoing frozen embryo transfer cycles with suboptimal endometrium. Material and Methods: Intrauterine instillation of autologous PRP was done in 68 women between 22 and 40 years, over 8 months, with suboptimal endometrial growth, and patients with repeated cycle cancellations, in addition to Estradiol valerate. Frozen embryo transfer was performed when the endometrium reached an optimal pattern in terms of thickness, appearance, and vascularity...
July 2017: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/29142448/expression-of-the-bone-morphogenetic-protein-2-bmp2-in-the-human-cumulus-cells-as-a-biomarker-of-oocytes-and-embryo-quality
#10
Sirin B Demiray, Ozlem Yilmaz, Ege N T Goker, Erol Tavmergen, Nilufer Calimlioglu, Ugur Sezerman, Huseyin O Soykam, Gulperi Oktem
Background: The members of the transforming growth factor-B superfamily, as the bone morphogenetic proteins (BMPs) subfamily and anti-Müllerian hormone (AMH), play a role during follicular development, and the bone morphogenetic protein-2 (BMP2), AMH, and THY1 are expressed in ovaries. Aim: This study was designed to define whether or not the expressions of these proteins in human cumulus cells (CCs) can be used as predictors of the oocyte and embryo competence...
July 2017: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/29142445/a-study-of-controlled-ovarian-stimulation-with-clomiphene-citrate-or-letrozole-in-combination-with-gonadotropins-and-iui-in-unexplained-infertility
#11
Madhusmita Hembram, Ratna Biswas, Anju Jain
Aim: To compare the effect of clomiphene citrate (CC) + human menopausal gonadotropin (hMG) with letrozole + hMG on size, number of follicles, endometrial thickness, serum levels of oestradiol and progesterone and pregnancy rate. Settings and Design: Non-randomised interventional study. Patients and Methods: A total number of 60 patients in the age group of 20-35 years with unexplained infertility were divided into two groups, 30 in each. Group A received CC + hMG and group B received letrozole + hMG...
July 2017: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/29136189/serum-omega-3-fatty-acids-and-treatment-outcomes-among-women-undergoing-assisted-reproduction
#12
Y-H Chiu, A E Karmon, A J Gaskins, M Arvizu, P L Williams, I Souter, B R Rueda, R Hause, J E Chavarro
STUDY QUESTION: Are serum polyunsaturated fatty acids (PUFA) concentrations, including omega-3 (ω3-PUFA) and omega-6 (ω6-PUFA), related to ART outcomes? SUMMARY ANSWER: Serum levels of long-chain ω3-PUFA were positively associated with probability of live birth among women undergoing ART. WHAT IS KNOWN ALREADY: Intake of ω3-PUFA improves oocyte and embryo quality in animal and human studies. However, a recent cohort study found no relation between circulating ω3-PUFA levels and pregnancy rates after ART...
November 10, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29134181/pregnancy-and-live-birth-after-follicle-stimulating-hormone-treatment-for-an-infertile-couple-including-a-male-affected-by-sertoli-cell-only-syndrome
#13
Gianni Paulis, Luca Paulis, Gennaro Romano, Carmen Concas, Marika Di Sarno, Renata Pagano, Antonio Di Filippo, Maria Luisa Di Petrillo
In males with nonobstructive azoospermia, one of the main histopathologic patterns of the testis is Sertoli cell-only syndrome (SCOS), in which no germ cells are present and only Sertoli cells are contained in the seminiferous tubules. There is not any formal treatment for this pathological condition. However, several studies reported the possibility to perform testicular sperm extraction in patients with SCOS, although, according to some authors, sperm retrieval is possible only in the presence of focal spermatogenesis...
2017: Research and Reports in Urology
https://www.readbyqxmd.com/read/29131013/a-new-baltic-population-specific-human-genetic-marker-in-the-pmca4-gene
#14
Janis Stavusis, Inna Inashkina, Baiba Lace, Dita Pelnena, Svetlana Limborska, Andrey Khrunin, Vaidutis Kucinskas, Astrida Krumina, Linda Piekuse, Branko Zorn, Violeta Fodina, Margus Punab, Juris Erenpreiss
OBJECTIVES: The PMCA gene family consists of 4 genes and at least 21 splice variants; among these, the Ca2+ ATPase 4 (PMCA4) gene encodes a plasma membrane protein abundantly expressed in several tissues, including the kidney, heart, and sperm. Knockout of PMCA4 causes infertility due to immotile sperm in mouse models. We therefore investigated variants in this gene for potential association with infertility in groups of Estonian (n = 191) and Latvian (n = 92) men with reduced sperm motility...
November 2, 2017: Human Heredity
https://www.readbyqxmd.com/read/29129796/comprehensive-profiling-of-prostaglandins-in-human-ovarian-follicular-fluid-using-mass-spectrometry
#15
Bruce Pier, Johnathan W Edmonds, Landon Wilson, Alireza Arabshahi, Ray Moore, G Wright Bates, Jeevan K Prasain, Michael A Miller
Prostaglandins are formed by enzymatic and non-enzymatic mechanisms. They have been detected in human ovarian follicular fluid (HFF), a medium rich in growth factors and nutrients important for oocyte growth and fertility. However, the comprehensive identification of HFF prostaglandins has not been addressed. Here we use hybrid triple quadrupole time-of-flight and triple quadrupole mass spectrometers to comprehensively analyze prostaglandins in HFF. We identified PGE1, PGE2, PGF2α, and other prostaglandins synthesized via prostaglandin-endoperoxide synthase (i...
November 9, 2017: Prostaglandins & Other Lipid Mediators
https://www.readbyqxmd.com/read/29126233/endothelin-1-promotes-human-germinal-vesicle-stage-oocyte-maturation-by-downregulating-connexin-26-expression-in-cumulus-cells
#16
Long Cui, Jiajie Shen, Li Fang, Xiaodan Mao, Hanzhi Wang, Yinghui Ye
STUDY QUESTION: Does endothelin-1 (ET-1) promote human oocyte maturation and by what mechanism? SUMMARY ANSWER: Addition of ET-1 to the medium in which human germinal vesicle (GV)-stage immature oocytes are cultured enhances the GV breakdown (GVBD) rate; the resumption of meiosis may be initiated by ET-1 downregulating the expression of connexin-26 (Cx26) in cumulus cells via endothelin receptor type B (ETRB), leading to decreased cAMP levels in the oocyte. WHAT IS KNOWN ALREADY: The paracrine factor ET-1 is secreted by ovarian somatic cells in pre-ovulatory follicles and regulates oocyte maturation in mice...
November 8, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/29126187/med12-regulates-ovarian-steroidogenesis-uterine-development-and-maternal-effects-in-the-mammalian-egg
#17
Xinye Wang, Priya Mittal, Carlos A Castro, Gabriel Rajkovic, Aleksandar Rajkovic
The transcriptional factor MED12 is part of the essential mediator transcriptional complex that acts as a transcriptional coactivator in all eukaryotes. Missense gain of function mutations in human MED12 are associated with uterine leiomyomas, yet the role of MED12 deficiency in tumorigenesis and reproductive biology has not been fully explored. We generated a Med12 reproductive conditional knockout mouse model to evaluate its role in uterine mesenchyme, granulosa cells, and oocytes. Mice heterozygous for Med12 deficiency in granulosa cells and uterus (Med12fl/+ Amhr2-Cre) were subfertile, while mice homozygous for Med12 deficiency in granulosa cells and uterus (Med12fl/fl Amhr2-Cre) were infertile...
November 8, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/29125118/research-advances-of-calcium-and-integrin-binding-protein-1-in-tumors
#18
Ling Hui, Fang Wang
Calcium-and integrin-binding protein 1(CIB1),a member of calcium binding protein containing EF-hand domain,has been shown to bind a variety of signaling proteins. Interaction of CIB1 with its various binding partners provides valuable insight into potential mechanisms by which CIB1 may regulate diverse tumors characteristic biological process that range from adhesion,migration,cell survival,proliferation,and angiogenesis. CIB1 has also been implicated in both the increase and decrease of cell proliferation...
October 30, 2017: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/29124782/the-effect-of-cigarette-smoking-on-human-seminal-parameters-sperm-chromatin-structure-and-condensation
#19
R M Mostafa, Y S Nasrallah, M M Hassan, A F Farrag, A Majzoub, A Agarwal
Considerable debate still exists regarding the effects of cigarette smoking on male fertility. This work aimed to explore effects of cigarette smoking on semen parameters and DNA fragmentation on 95 infertile patients who were divided into infertile male nonsmokers (45) and infertile male smokers (50). Smokers were subdivided according to a number of cigarettes smoked per day into mild (≤10), moderate (11-20) and heavy smokers (≥21). Semen analysis, sperm chromatin condensation integrity with aniline blue staining and sperm viability were compared between the study groups...
November 9, 2017: Andrologia
https://www.readbyqxmd.com/read/29121862/human-papillomavirus-in-semen-and-the-risk-for-male-infertility-a-systematic-review-and-meta-analysis
#20
Zhangyan Lyu, Xiaoshuang Feng, Ni Li, Wei Zhao, Luopei Wei, Yuheng Chen, Wenjing Yang, Hongxia Ma, Bing Yao, Kai Zhang, Zhibin Hu, Hongbing Shen, Dong Hang, Min Dai
BACKGROUND: Human papillomavirus (HPV) is one of the most prevalent sexually transmitted viruses. Despite the increasing evidence of HPV prevalence in semen, the worldwide distribution of HPV types in semen and risk for male infertility remain inconclusive. METHODS: Four electronic databases were searched for English language studies conducted between January 1990 and December 2016 that reported HPV DNA prevalence in semen. Based on the PRISMA guidelines, HPV prevalence was estimated among general population and fertility clinic attendees, respectively, and heterogeneity testing was performed using Cochran's Q and I (2) statistics...
November 9, 2017: BMC Infectious Diseases
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