Early B-cell factor 3 (EBF3)-related syndrome, also known as hypotonia, ataxia, and delayed development syndrome (HADDS), is a recently recognized neurodevelopmental disorder frequently associated with bladder dysfunction. Despite bladder dysfunction possibly caused by detrusor sphincter dyssynergia, previous studies reported relatively accepted bladder compliance in patients with HADDS. We present the first case of bladder augmentation, in the English literature, in a girl with EBF3-related syndrome due to poor bladder compliance with clean intermittent catheterization and anticholinergic medication.
View Article and Find Full Text PDFPolycystic Ovary Syndrome (PCOS) is a prevalent endocrine disorder in women of reproductive age, affecting 5-15% globally with a large proportion undiagnosed. This review explores the multifaceted nature of PCOS and its impact on pregnancy, including challenges in fertility due to hormonal imbalances and insulin resistance. Despite restoring ovulation pharmacologically, women with PCOS face lower pregnancy rates and higher risks of implantation failure and miscarriage.
View Article and Find Full Text PDFFront Cell Dev Biol
January 2024
Despite the development of various in vitro differentiation protocols for the efficient derivation of specific cell types, human induced pluripotent stem cell (hiPSC) lines have varing ability to differentiate into specific lineages. Therefore, surrogate markers for accurately predicting the differentiation propensity of hiPSC lines may facilitate cell-based therapeutic product development and manufacture. We attempted to identify marker genes that could predict the differentiation propensity of hiPSCs into neural stem/progenitor cells (NS/PCs).
View Article and Find Full Text PDFWe report an exceedingly rare case of Klippel-Feil syndrome (KFS), compounded by ipsilateral absence of the vas deferens, renal agenesis, and diaphragmatic hernia. Unilateral absence of the vas deferens was found incidentally during orchidopexy. To the best of our knowledge, no case of unilateral absence of the kidney and vas deferens has been reported in children with KFS.
View Article and Find Full Text PDFWe report a case of a solitary kidney and a single-system ectopic ureter draining into the vestibule in an infant with a Müllerian duct defect. Due to the absence of the upper vagina and uterus, an extremely underdeveloped bladder masqueraded as the vagina, and bladder agenesis was suspected preoperatively. Urinary continence was achieved using staged bladder surgery without augmentation or urinary diversion.
View Article and Find Full Text PDFA long diffuse giant umbilical cord (GUC), caused by umbilical cord edema associated with a patent urachus, is an extremely rare anomaly. While patients with diffuse GUC appear to experience no significant complications and a good prognosis, little is known about their etiology and prenatal course. Here, we report the first case of prenatally diagnosed diffuse GUC resulted from patent urachus in a monochorionic diamniotic twin with selective intrauterine growth restriction.
View Article and Find Full Text PDFNihon Hinyokika Gakkai Zasshi
January 2023
(Objective) The etiology of acute epididymitis in children remains poorly understood. Several studies have demonstrated that urine tests are negative in the majority of children with acute epididymitis, and the condition is self-limiting. The need for radiological evaluation of the urinary tract in children with acute epididymitis is still debatable.
View Article and Find Full Text PDFNihon Hinyokika Gakkai Zasshi
January 2023
Mitochondrial respiratory chain disorders (MRCD) constitute a highly heterogeneous group both with regard to clinical manifestations and underlying genetic/biochemical defects. Management of urological complications such as vesicoureteral reflux (VUR) has not been discussed in cases with MRCD. We report a pediatric case of MRCD with recurrent urinary tract infections (UTI) due to primary and secondary VUR.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
May 2022
Background: In recent years, certain prepubertal cases of asymmetric enlargement of the labium majus came to be recognized as a physiological condition in response to hormonal stimulation. However, there exist only scattered case reports or a few case series on this entity, with different terminology.
Case: We present 3 cases of unilateral asymptomatic swelling of the labium majus in otherwise healthy pre- and early pubertal girls.
Background: Because it is unclear whether lower urinary tract symptoms (LUTS) are associated with cardiovascular disease (CVD) in the Japanese population, we explored the association in general Japanese men aged 55-75 years.
Methods and results: The cross-sectional study included male participants who had both national health checkup data and the International Prostate Symptom Score (IPSS) in the same calendar year between 2009 and 2017. LUTS severity was evaluated by IPSS.
Congenital anterior urethrocutaneous fistula (CAUF) is a rare anomaly, commonly observed in the mid-shaft or more distal position of the penis. It can be seen in the perineum in anorectal anomalies or in cases of duplicated urethra. However, isolated CAUF opening into the perineum has not been reported.
View Article and Find Full Text PDFNihon Hinyokika Gakkai Zasshi
September 2021
A 9-month-old boy, having a history of cardiac surgery in neonatal period, was referred to our department for evaluation of genital anomalies. The antenatal course was uneventful, except for unknown gender. His family history was unremarkable.
View Article and Find Full Text PDFObjective: To describe the gonadal features of patients with 45,X/46,XY mosaicism, and to evaluate the prevalence of gonadal tumor in different phenotypes.
Materials And Methods: The medical records of consecutive patients with 45,X/46,XY karyotype or its variants who had undergone gonadal biopsy or gonadectomy at a single institute between 1996 and 2017 were retrospectively reviewed.
Results: Of 34 patients with 45,X/46,XY mosaicism, a unilateral dysgenetic testis and a contralateral streak gonad was detected in 20 patients (59%), bilateral streak gonads in 9 (26%), and bilateral dysgenetic testes in 5 (15%).
Clinical applications of human induced pluripotent stem cells (hiPSCs) are expected, but hiPSC lines vary in their differentiation propensity. For efficient selection of hiPSC lines suitable for differentiation into desired cell lineages, here we identify SALL3 as a marker to predict differentiation propensity. SALL3 expression in hiPSCs correlates positively with ectoderm differentiation capacity and negatively with mesoderm/endoderm differentiation capacity.
View Article and Find Full Text PDFCell-processed therapeutic products (CTPs) derived from human pluripotent stem cells (hPSCs) have innovative applications in regenerative medicine. However, undifferentiated hPSCs possess tumorigenic potential; thus, sensitive methods for the detection of residual undifferentiated hPSCs are essential for the clinical use of hPSC-derived CTPs. The detection limit of the methods currently available is 1/10 (0.
View Article and Find Full Text PDFEndocrinol Diabetes Metab
January 2019
Context: Cryptorchidism is common in Prader-Willi syndrome (PWS) males, but the testicular histology in childhood remains uncertain. The association between testicular histology and long-term gonadal function in PWS males is also unknown.
Objectives: To evaluate the relationship between testicular histology in childhood and long-term gonadal function in PWS males.
Nihon Hinyokika Gakkai Zasshi
January 2019
Localized cystic disease of the kidney (LCDK) is a rare, non-hereditary, non-progressive benign cystic renal condition. It is found primarily in adults, and is rarely reported in children. To date, only 5 prepubertal cases of LCDK have been reported in the literature.
View Article and Find Full Text PDFNihon Hinyokika Gakkai Zasshi
January 2018
Stent encrustation is one of the most serious complications of using double J stents. The management of encrusted stent is challenging, especially in children. To date, only two pediatric cases of stent encrustation, at the expected timing of removal after pyeloplasty, have been reported.
View Article and Find Full Text PDFHuman pluripotent stem cells (hPSCs) are leading candidate raw materials for cell-based therapeutic products (CTPs). In the development of hPSC-derived CTPs, it is imperative to ensure that they do not form tumors after transplantation for safety reasons. Because cellular immortalization is a landmark of malignant transformation and a common feature of cancer cells, we aimed to develop an in vitro assay for detecting immortalized cells in CTPs.
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