LINE-1-Induced Retrotransposition Affects Early Preimplantation Embryo DNA Integrity and Pluripotency.

Retrotransposable elements are implicated in genome rearrangements and gene expression alterations that result in various human disorders. In the current study, we sought to investigate the potential effects of long interspersed elements-1 (LINE-1) overexpression on the integrity and methylation of DNA and on the expression of three major pluripotency factors (OCT4, SOX2, NANOG) during the preimplantation stages of human embryo development. Human MI oocytes were matured in vitro to MII and transfected through intracytoplasmic sperm injection (ICSI) either with an EGFP vector carrying a cloned active human LINE-1 retroelement or with the same EGFP vector without insert as control.

A 46,XX Karyotype in Men with Infertility: Two New Cases and Review of the Literature.

46,XX male sex reversal syndrome is a rare genetic cause of male infertility. We report on two new cases of this syndrome in men presenting with hypogonadism and infertility. Cytogenetic and molecular analysis was performed in both patients.

The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients.

Purpose: To investigate whether preimplantation genetic testing for aneuploidy (PGT-A) improves the clinical outcome in patients with advanced maternal age (AMA), recurrent miscarriages (RM), and recurrent implantation failure (RIF).

Methods: Retrospective cohort study from a single IVF center and a single genetics laboratory. One hundred seventy-six patients undergoing PGT-A were assigned to three groups: an AMA group, an RM group, and a RIF group.

"Lock-down'' for COVID-19 has ''locked up'' Urological emergencies in Greece.

Over the last couple of months physicians world wide are struggling to prevent the novel coronavirus (COVID-19) spread all over the world. It has become obvious that our health care systems should under go modifications in order to successfully confront similar pandemics, since this is considered the ''century of pandemics'', due to the high incidence of new virus attacks with expressly high virulence (Hong Kong flu in 1968, AIDS, SARS in 2002, H1N1 pandemic in 2009, MERS in 2012 and COVID-19 in 2020) (1).

Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous Deletion Detected by High-Resolution aCGH.

Coffin-Siris Syndrome 4 is an autosomal dominant congenital malformation syndrome caused by heterozygous mutations in the gene with its main features being intellectual disability, developmental delay, behavioral abnormalities, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Here, we report a young woman with developmental delay, moderate intellectual disability, and bilateral sensorineural hearing loss, referred for genetic testing. High-resolution chromosomal microarray analysis identified a 428-kb deletion in chromosome 19 which included the gene.