Publications by authors named "N M Passoni"
Introduction: Spina bifida (SB) occurs in 3.5/10,000 live births and is associated with significant long-term neurologic and urologic morbidity. We explored the characteristics and outcomes of pediatric patients with SB and the facilities that treat them in Texas.
View Article and Find Full Text PDFArticle Synopsis
- Prune belly syndrome (PBS), or Eagle-Barret syndrome, is a rare condition mostly affecting males, characterized by urinary tract dilation, abdominal muscle deficiency, and undescended testes.
- Researchers found a genetic link to PBS through a variant in the PIEZO1 gene, which plays a role in how cells respond to mechanical pressure.
- Functional analysis showed that the PIEZO1 mutation leads to loss-of-function in certain channel activities, but the issue can potentially be fixed using Yoda1, a compound that activates PIEZO1, suggesting new treatment avenues for PBS.
LUMBAR syndrome is rare with a multitude of features that requires a high index of suspicion for timely diagnosis and appropriate management. We present on a newborn female whose untreated segmental infantile hemangioma lead to poor healing of her bladder exstrophy closure. The objective of this report is to describe bladder exstrophy as a urogenital anomaly in patients with LUMBAR syndrome and the importance of balancing management of infantile hemangioma and time to surgery.
View Article and Find Full Text PDF