Prune belly syndrome (PBS) is a rare congenital disease that predominantly occurs in males and is identified by its classic triad of abdominal wall musculature deficiencies, cryptorchidism, and urinary tract abnormalities. However, numerous anomalies involving the kidneys, heart, lungs, and muscles have also been reported. A multitude of chromosomal abnormalities have been implicated in its pathogenesis.
View Article and Find Full Text PDFThe estimated incidence of pediatric testis tumor is 0.5-2.0 per 100,000 children, accounting for 1-2% of all pediatric tumors.
View Article and Find Full Text PDFIntroduction: Long-term continence outcomes in patients undergoing complete primary repair of exstrophy (CPRE) have shown that a subset of patients do not achieve continence until after puberty. We aim to update the continence outcomes as well as describe gynecological outcomes for females having undergone CPRE.
Materials And Methods: This was a retrospective review between 1989 and 2019 at a single institution.
Introduction: Limited data exist on patient-reported outcomes in adults with bladder exstrophy (BE). We partnered with the Association for the Bladder Exstrophy Community (A-BE-C) using social media to survey adult females with BE. The aim of the study was to assess long-term patient-reported sexual, reproductive and continence outcomes.
View Article and Find Full Text PDFPurpose: We aim to report outcomes and safety with hormonal suppression to facilitate gonadal preservation in a select group of patients with 46,XY differences in sex development (DSD) who are raised and identify as female yet have diagnoses with potential for androgenization at puberty.
Methods: We performed a retrospective review of the past 10 years of DSD patients treated by a multidisciplinary program. Inclusion criteria were 46,XY DSD, female sex of rearing, risk of androgenization at puberty, and plan for hormonal suppression at puberty.
Adv Med Educ Pract
June 2020
There has been a major shift from the old paradigm of 'see one, do one, teach one' in medical training due in large part to resident work-hour restrictions and required oversight in the operating room. In response to this, advancements in technology have allowed for the introduction of more objective measures to assess the skill competency and proficiency of surgical trainees. Patient safety and trainee well-being are important drivers for this new model, and so surgical training programs are adopting simulation into their curriculum.
View Article and Find Full Text PDFMenkes disease, or Kinky Hair Syndrome, is a rare disorder of copper metabolism that causes fatal neurodegenerative disease in infancy. This X-linked disorder results from mutations in the ATP7A gene. Along with neurological decline, characteristic coarse appearance of the hair is seen.
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