Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.

De novo sequence variants, including truncating and splicing variants, in the additional sex‑combs like 3 gene (ASXL3) have been described as the cause of Bainbridge‑Ropers syndrome (BRS). This pathology is characterized by delayed psychomotor development, severe intellectual disability, growth delay, hypotonia and facial dimorphism. The present study reports a case of a girl (born in 2013) with severe global developmental delay, central hypotonia, microcephaly and poor speech.

Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.

The TRPS1 protein is a potent regulator of proliferation, differentiation, and apoptosis. The TRPS1 gene aberrations are strongly associated with rare trichorhinophalangeal syndrome (TRPS) development. We have conducted MLPA analysis to capture deletion within the crucial 8q24.

Seminal plasma homocysteine, folate and cobalamin in men with obstructive and non-obstructive azoospermia.

Purpose: The aim of this study was to analyze homocysteine, folate and cobalamin in men with normozoospermia, obstructive and non-obstructive azoospermia.

Methods: Analysis of plasma and seminal plasma homocysteine, folate and cobalamin in 72 azoospermic and 62 normozoospermic men. Evaluation of the azoospermic patient included testicular biopsy, endocrine, urological and ultrasound examination.

[Long-term experience with MESA, TESE techniques in the University Hospital (FN) in Brno].

Authors evaluated the experience of application MESA, TESE and ICSI techniques during 9 years long cooperation between Department of Urology University Hospital Brno and Institulions of reproductive Medicine University Hospital Brno. 104 surgical procedures were performed during this time period and as result 24 children were born.