A5025451661- Sperm and Testicular Function
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Reproductive Biology and Fertility
- Sexual Differentiation and Disorders
- Reproductive Health and Technologies
- Ovarian function and disorders
- Extracellular vesicles in disease
- MicroRNA in disease regulation
- Prenatal Screening and Diagnostics
- Congenital Anomalies and Fetal Surgery
- Reproductive System and Pregnancy
- COVID-19 and healthcare impacts
- Hormonal and reproductive studies
- BRCA gene mutations in cancer
- Epigenetics and DNA Methylation
- Chromosomal and Genetic Variations
- Urological Disorders and Treatments
- Male Reproductive Health Studies
- Health, Environment, Cognitive Aging
- COVID-19 Impact on Reproduction
- Birth, Development, and Health
- SARS-CoV-2 and COVID-19 Research
- Urologic and reproductive health conditions
- Metabolism and Genetic Disorders
- Cancer-related molecular mechanisms research
Puigvert Foundation
2008-2025
Hospital de Sant Pau
2024
Universitat de Barcelona
1993
Male sterility due to abnormal sperm morphology or motion has been widely reported, although relatively little published on the nuclear protein abnormalities. We report first cases worldwide of infertile patients having a complete selective absence protamine P2 in nucleus. This provides phenotype that will aid understanding mechanisms synthesis, processing, function protamines. In addition, it is marked immediate relevance medicine as allows diagnosis this type human male and opportunity...
Although it is specific for prostatic tissue, serum prostate-specific antigen (PSA) screening has resulted in an over-diagnosis of prostate cancer (PCa) and many unnecessary biopsies benign disease due to a well-documented low specificity, thus improvement required. We profiled the expression level miRNAs contained semen exosomes from men with moderately increased PSA levels assess their usefulness, either alone or addition marker, as non-invasive biomarkers, early efficient diagnosis...
Epigenetic changes are involved in a wide range of common human diseases. Although DNA methylation defects known to be associated with male infertility mice, their impact on deficiency sperm production has yet determined. We have assessed the global genomic profiles infertile patients spermatogenic disorders by using Infinium Human Methylation27 BeadChip. Three populations were studied: conserved spermatogenesis, failure due germ cell maturation defects, and Sertoli cell-only syndrome...
Biomedical science is rapidly developing in terms of more transparency, openness and reproducibility scientific publications. This even important for all studies that are based on results from basic semen examination. Recently two concordant documents have been published: the 6th edition WHO Laboratory Manual Examination Processing Human Semen, International Standard ISO 23162:2021. With these tools, we propose authors should be instructed to follow laboratory methods order publish...
Abstract Infertility is one of the main sequelae cancer and its treatment in both children adults reproductive age. It is, therefore, essential that oncologists haematologists provide adequate information about risk infertility possibilities for preservation before starting treatment. Although many international clinical guidelines address this issue, document first Spanish multidisciplinary guideline paediatric adult oncological patients. Experts from Society Medical Oncology, Fertility...
Abstract STUDY QUESTION Do the genetic determinants of idiopathic severe spermatogenic failure (SPGF) differ between generations? SUMMARY ANSWER Our data support that component SPGF is impacted by dynamic changes in environmental exposures over decades. WHAT IS KNOWN ALREADY The form has a multifactorial etiology wherein an interaction genetic, epigenetic, and factors leads to disease onset progression. At level, genome-wide association studies (GWASs) allow analysis millions variants across...
Severe spermatogenic failure (SpF) represents the most extreme manifestation of male infertility, as it decreases drastically semen quality leading to either severe oligospermia (SO, <5 million spermatozoa/mL semen) or non-obstructive azoospermia (NOA, complete lack spermatozoa in ejaculate without obstructive causes).The main objective present study is analyze Iberian population effect 6 single-nucleotide polymorphisms (SNPs) previously associated with NOA Han Chinese through genome-wide...
Abstract We conducted a genome-wide association study in large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions associated with the most severe histological pattern SPGF, defined by Sertoli cell-only (SCO) phenotype, namely MHC class II gene HLA-DRB1 (rs1136759, P = 1.32E-08, OR 1.80) an upstream locus...
Abstract Study question Do the genetic factors associated with idiopathic severe spermatogenic failure (SPGF) differ across age groups due to evolving environmental exposures over generations? Summary answer Dynamic changes in have potential reshape predisposition SPGF. What is known already Accumulating evidence suggests that form of SPGF may represent a complex trait multifactorial aetiology, wherein influence and development disease through their interaction polymorphisms. In recent...
Despite that the SARS-CoV-2 pandemic has been controlled, it affected a large proportion of population, raising some concerns about potential sequelae in men at reproductive age. To contribute to clarification this issue, we performed retrospective study comparing semen parameters values before and after confirmed infection cohort infertile men, compared control group did not undergo infection. Wilcoxon test on paired samples general linear regression model showed detrimental effect volume...
We aimed to analyze the role of common genetic variants located in PIN1 locus, a relevant prolyl isomerase required control proliferation spermatogonial stem cells and integrity blood-testis barrier, risk developing male infertility due severe spermatogenic failure (SPGF). Genotyping was performed using TaqMan genotyping assays for three taggers (rs2287839, rs2233678 rs62105751). The study cohort included 715 males diagnosed with SPGF classified as suffering from non-obstructive azoospermia...