• Anatomy and Cell Biology
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• v.55 no.4
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• pp.475-482
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• 2022

Solitary distal vaginal atresia is generally caused by a transverse septum or an imperforate hymen. We found a novel type of distal vaginal atresia in a late-term fetus (gestational age approximately 28 weeks) in our histology collection. This fetus had a vaginal vestibule that was closed and covered by a thick subcutaneous tissue beneath the perineal skin in the immediately inferior or superficial side of the imperforate hymen. The uterus, uterine tube, anus, and anal canal had normal development. The urethral rhabdosphincters were well-developed and had a normal topographical relationship with the vagina, but the urethrovaginal sphincter was absent. Thus, vaginal descent seemed to occur normally and form the vestibule. However, the external orifice of the urethra consisted of a highly folded duct with hypertrophied squamous epithelium. Notably, the corpus cavernosum and crus of the clitoris had poor development and were embedded in the subcutaneous tissue, distant from the vestibule. Normally, the cloacal membrane shifts from the bottom of the urogenital sinus to the inferior aspect of the thick and elongated genital tubercle after establishment of the urorectal septum. Therefore, we speculate there was a failure in the transposition of the cloacal membrane caused by decreased elongation of the genital tubercle. The histology of this anomaly strongly suggested that the hymen does not represent a part of the cloacal membrane, but is instead a product that appears during the late recanalization of the distal vagina after vaginal descent. The transverse septum was also likely to form during this recanalization.

• Anatomy and Cell Biology
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• v.56 no.4
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• pp.421-427
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• 2023

Bladder exstrophy is a rare congenital condition of the pelvis, bladder, and lower abdomen that opens the bladder against the abdominal wall, produces aberrant growth, short penis, upward curvature during erection, wide penis, and undescended testes. Exstrophy affects 1/30,000 newborns. The bladder opens against the abdominal wall in bladder exstrophy, a rare genitourinary condition. This study is vital to provide appropriate therapy choices as a basis to improve patient outcomes. This study may explain bladder exstrophy and provide treatment. Epispadias, secretory placenta, cloacal exstrophy, and other embryonic abnormalities comprise the exstrophy-spades complex. The mesenchymal layer does not migrate from the ectoderm and endoderm layers in the first trimester, affecting the cloacal membrane. Embryological problems define the exstrophy-aspidistra complex, which resembles epimedium, classic bladder, cloacal exstrophy, and other diseases. Urogenital ventral body wall anomalies expose the bladder mucosa, causing bladder exstrophy. Genetic mutations in the Hedgehog cascade pathway, Wnt signal, FGF, BMP4, Alx4, Gli3, and ISL1 cause ventral body wall closure and urinary bladder failure. External factors such as high maternal age, smoking moms, and high maternal body mass index have also been associated to bladder exstrophy. Valproic acid increases bladder exstrophy risk; chemicals and pollutants during pregnancy may increase bladder exstrophy risk. Bladder exstrophy has no identified cause despite these risk factors. Exstrophy reconstruction seals the bladder, improves bowel function, reconstructs the vaginal region, and restores urination.

• Childhood Kidney Diseases
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• v.25 no.2
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• pp.112-116
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• 2021

Hyperammonemia is mainly caused by diseases related to liver failure. However, there are also non-hepatic causes of hyperammonemia, such as urinary tract infection (UTI) due to urease-producing organisms. Urease production by these bacteria induces a hydrolysis of urinary urea into ammonia that can cross the urothelial cell membrane and diffuse into blood vessels, leading to hyperammonemia. Delayed diagnosis and treatment of hyperammonemia can lead to lethal encephalopathy that can cause brain damage and life-threatening conditions. In the presence of obstructive uropathy, UTI by urease-producing bacteria can lead to more severe hyperammonemia due to enhanced resorption of ammonia into the systemic circulation. In this report, we present a case of acute severe hyperammonemic encephalopathy leading to brain death due to accumulation of ammonia in blood caused by Morganella morganii UTI in a 10-year-old girl with cloacal anomaly, causing obstructive uropathy even after multiple corrections.