Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review.

Early-onset epileptic encephalopathies (EOEE) affect cognitive, sensory, and motor development. Genetic variations are among the identifiable primary causes of these syndromes. However, some patients have been reported to be affected by EOEE without any other clinical symptoms and signs.

A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.

Intellectual disability (ID) affects 1-3% of the general population worldwide. Genetic factors play an undeniable role in the etiology of Non-Syndromic Intellectual disability (NS-ID). Nowadays, whole-exome sequencing (WES) technique is used frequently to identify the causative genes in such heterogeneous diseases.

Aspects of psychosocial development in infertile versus fertile men.

Background: Infertility is one of the most difficult life experiences that a couple might encounter. Infertility as a bio-psycho-social phenomenon, could influence all aspects of life. While paying special attention to the psychological aspects of infertility in couples; many studies have investigated the non-clinical aspects of infertility, however, they rarely have evaluated the psychosocial development of infertile versus fertile men.

Study of body image in fertile and infertile men.

Background: Body Image as a multidimensional entity is related to both physical and psychological aspects of the image one has of his or her own body. Lack/absence of an acceptable body image is one of the reasons of mental distress in infertile individuals.

Methods: In this study, an equal number (No=120) of fertile and infertile men attending Avicenna Infertility Clinic (AIC) were enrolled.

Relationship between sperm chromatin status and ICSI outcome in men with obstructive azoospermia and unexplained infertile normozoospermia.

This study was done to evaluate the effect of sperm source on chromatin integrity and ICSI outcomes. One hundred and thirteen samples containing epididymal aspirates of 57 obstructive azoospermic men and 56-ejaculated semen of normozoospermic men were included in this study. Sperm chromatin status was evaluated by Chromomycin A3 (CMA3), Aniline Blue (AB) and Toluidine Blue (TB).