Publications by authors named "E G Chronopoulou"
TANGO2 deficiency disorder, a rare autosomal recessive genetic disorder characterised by biallelic loss-of-function variants in the TANGO2 gene, was first described in 2016. This disorder involves the transport and Golgi organisation homologue, impacting Golgi membrane redistribution into the endoplasmic reticulum. Clinically, affected individuals exhibit a multiorgan phenotype, with prominent neurological manifestations such as developmental delay and regression.
View Article and Find Full Text PDFPurpose: Adrenocortical carcinoma (ACC) poses a significant challenge in healthcare due to its aggressive nature and rarity. Prior reports suggest a poorer prognosis associated with hormone-secreting neoplasms. This study aims to assess the impact of ACC hormonal status on patients' oncologic survival.
View Article and Find Full Text PDFPrimary mitochondrial diseases (PMDs) are among the most common inherited neurological disorders. They are caused by pathogenic variants in mitochondrial or nuclear DNA that disrupt mitochondrial structure and/or function, leading to impaired oxidative phosphorylation (OXPHOS). One emerging subcategory of PMDs involves defective phospholipid (PL) metabolism.
View Article and Find Full Text PDFArticle Synopsis
- Intrauterine insemination (IUI) is a common fertility treatment, but the ways it's done can be very different at different clinics, and there are extra methods that might help it work better.
- This study looked at many previous trials to see which add-on methods are actually helpful and safe for IUI treatments.
- They found that using vaginal progesterone and endometrial scratch techniques might increase the chances of getting pregnant, but the proof isn't very strong for all methods.
Impact of double trophectoderm biopsy on reproductive outcomes following single euploid blastocyst transfer.
Eur J Obstet Gynecol Reprod Biol
July 2024
Objectives: To study the effect of double trophectoderm biopsy on clinical outcomes following single euploid blastocyst transfer.
Study Design: Retrospective cohort study of 2046 single euploid frozen-thawed blastocyst transfers from January 2015 to June 2022 in a single centre. All patients undergoing a frozen-thawed embryo transfer (FTET) cycle with euploid blastocysts, biopsied for any indication, were included.