Search results for "Infertility"
showing 10 items of 295 documents
Prevalence of pathogenic copy number variants among children conceived by donor oocyte.
2021
AbstractDevelopment of assisted reproductive technologies to address infertility has favored the birth of many children in the last years. The majority of children born with these treatments are healthy, but some concerns remain on the safety of these medical procedures. We have retrospectively analyzed both the fertilization method and the microarray results in all those children born between 2010 and 2019 with multiple congenital anomalies, developmental delay and/or autistic spectrum disorder (n = 486) referred for array study in our center. This analysis showed a significant excess of pathogenic copy number variants among those patients conceived after in vitro fertilization with donor …
Telomeres as a molecular marker of male infertility
2018
In recent years, male infertility has become a growing social problem. Standard diagnostic procedures, based on assessing seminological parameters, are often insufficient to explain the causes of male infertility. Because of this, new markers with better clinical application are being sought. One of the promising markers seems to be an assessment of telomere length of sperm. Sperm telomeres, in contrast to somatic cells, are elongated as men age. The results of some studies suggest that telomere length may be relevant in the case of fertilization and normal embryo development. Literature reports indicate that there is a correlation between telomere length of sperm and abnormal sperm paramet…
Nandrolone decanoate interferes with testosterone biosynthesis altering blood-testis barrier components
2017
Abstract The aim of this study was to investigate whether nandrolone decanoate (ND) use affects testosterone production and testicular morphology in a model of trained and sedentary mice. A group of mice underwent endurance training while another set led a sedentary lifestyle and were freely mobile within cages. All experimental groups were treated with either ND or peanut oil at different doses for 6 weeks. Testosterone serum levels were measured via liquid chromatography–mass spectrometry. Western blot analysis and quantitative real‐time PCR were utilized to determine gene and protein expression levels of the primary enzymes implicated in testosterone biosynthesis and gene expression leve…
Interference of antisperm antibodies with the induction of the acrosome reaction by zona pellucida (ZP) and its relationship with the inhibition of Z…
1997
Abstract Objective: To determine whether antisperm antibodies can interfere with the induction of the acrosome reaction (AR) by the zona pellucida (ZP) and whether this interference also can occur in the absence of an inhibitory effect on ZP binding. Design: Prospective in vitro study. Setting: A tertiary care center, the Andrologic Clinic, University of L'Aquila. Patient(s): Sera from 12 infertile patients with high titers of circulating antibodies directed against the sperm head were studied. Intervention: None Main Outcome Measure(s): The effect of antisperm antibodies on ZP binding was evaluated by matching antibody-exposed and nonexposed donor sperm suspensions labeled with fluorescein…
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting…
2020
Abstract Background PADI6 is a component of the subcortical maternal complex, a group of proteins that is abundantly expressed in the oocyte cytoplasm, but is required for the correct development of early embryo. Maternal-effect variants of the subcortical maternal complex proteins are associated with heterogeneous diseases, including female infertility, hydatidiform mole, and imprinting disorders with multi-locus imprinting disturbance. While the involvement of PADI6 in infertility is well demonstrated, its role in imprinting disorders is less well established. Results We have identified by whole-exome sequencing analysis four cases of Beckwith-Wiedemann syndrome with multi-locus imprintin…
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational researc…
2019
Limited translational genomic research data have been reported on the application of exome sequencing and parallel gene testing for preconception carrier screening (PCS). Here, we present individual-level data from a large PCS program in which exome sequencing was routinely performed on either gamete donors (5,845) or infertile patients (8,280) undergoing in vitro fertilization (IVF) treatment without any known family history of inheritable genetic conditions. Individual-level data on pathogenic variants were used to define conditions for PCS based on criteria for severity, penetrance, inheritance pattern, and age of onset. Fetal risk was defined based on actual carrier frequency data accou…
Successful in vitro fertilization and embryo transfer after limited surgical treatment for tubal adenocarcinoma.
1989
A 29-year-old woman with tubal adenocarcinoma stage IA was treated only with bilateral salpingectomy, pelvic lymphadenectomy, and omentectomy. Two years later the patient successfully underwent in vitro fertilization and embryo transfer, and at 39 weeks gave birth to a healthy son by cesarean section. The result of oncologic follow-up 3 years after surgery is negative.
Metformin and health outcomes:An umbrella review of systematic reviews with meta-analyses
2021
Background:\ud \ud The objective was to capture the breadth of outcomes that have been associated with metformin use and to systematically assess the quality, strength and credibility of these associations using the umbrella review methodology.\ud \ud Methods:\ud \ud Four major databases were searched until 31 May 2020. Meta‐analyses of observational studies and meta‐analyses of randomized controlled trials (RCTs) (including active and placebo control arms) were included.\ud \ud Results:\ud \ud From 175 eligible publications, we identified 427 different meta‐analyses, including 167 meta‐analyses of observational studies, 147 meta‐analyses of RCTs for metformin vs placebo/no treatment and 11…
Effects of different kinds of essentiality on sequence evolution of human testis proteins
2016
We asked if essentiality for either fertility or viability differentially affects sequence evolution of human testis proteins. Based on murine knockout data, we classified a set of 965 proteins expressed in human seminiferous tubules into three categories: proteins essential for prepubertal survival (“lethality proteins”), associated with male sub- or infertility (“male sub-/infertility proteins”), and nonessential proteins. In our testis protein dataset, lethality genes evolved significantly slower than nonessential and male sub-/infertility genes, which is in line with other authors’ findings. Using tissue specificity, connectivity in the protein-protein interaction (PPI) network, and mul…
Meiosis in translocation heterozygotes in the mosquito Culex pipiens.
1971
Adult Culex pipiens males irradiated with both X-rays and neutrons were crossed to untreated females and F1-egg rafts were checked for dominant lethality. F1-progenies were outcrossed with normal individuals in order to obtain lines with inherited semisterility. From a total of 120 lines that showed a certain amount of sterility 12 lines were studied cytologically. 10 lines showed reciprocal chromosome exchanges.—At late pachytene and diplotene cross configurations with large asynaptic regions at the center of the cross are obligatory. Bivalents, chains of three, chains of four, and ring configurations are present at metaphase and anaphase I. The different frequencies of the occurrence of s…