Velho RV

BACKGROUND: Given the challenges in early detection and diagnosis, understanding the molecular underpinnings of endometrioid ovarian cancer (EOC) is crucial for improving patient outcomes. This multi-level study provides a new perspective o…

Endometriosis is one of the most common causes of chronic pelvic or lower-abdominal pain, yet mechanisms, predictors, and patient-centered treatment pathways remain insufficiently defined. This article summarizes the situation in Germany an…

The LYSET gene encodes the LYSET transmembrane protein, which regulates lysosome biogenesis by activating the mannose-6-phosphate (M6P) pathway. This is an autosomal recessive, ultrarare, and severe progressive skeletal dysplasia with coars…

Endometriosis (EM), defined as the presence of endometrial-like tissue with surrounding smooth muscle cells outside the uterus, is a disregarded gynecological disease reported to affect 6-10% of women of reproductive age, with 30-50% of the…

Mucolipidosis II and III (MLII and MLIII) are autosomal recessive diseases caused by pathogenic variants in GNPTAB and GNPTG genes that lead to defects in GlcNAc-1-phosphotransferase. This enzyme adds mannose 6-phosphate residues to lysosom…

OBJECTIVE: This study aimed to characterize Sox-2 in sentinel lymph nodes and randomly obtained lymph nodes from endometriosis (EM) patients for the first time. STUDY DESIGN: This prospective study analyzed tissue samples from surgical spe…

Endometriosis (EM) is an estrogen-dependent disease characterized by the presence of epithelial, stromal, and smooth muscle cells outside the uterine cavity. It is a chronic and debilitating condition affecting ~10% of women. EM is characte…