Fetal lower urinary tract obstruction (LUTO) is a congenital condition in which the bladder fails to excrete urine through the urethra. The primary goal of prenatal treatment for LUTO is the prevention of renal impairment and pulmonary hypoplasia. Vesico-amniotic shunt (VAS) has been the fetal intervention of choice; however, VAS has some limitations, including excretion of urine through an unphysiologic bypass and the need for postnatal corrective reoperation. In this study, we present a novel fetal intervention, a “retro-cystoscopic urethral approach,” performed on a male fetus at 20 weeks gestation diagnosed with enlarged bladder and bilateral hydronephrosis. This approach aims to dilate the narrowed urethra by inserting a urinary catheter using guidewire through a fetal cysto scope. The whole procedure was monitored under real-time ultrasonographic guidance. Despite prenatal intervention, the fetus required multiple cystocenteses, and the bladder dilation persisted.Postnatally, he was diagnosed with megacystis microcolon intestinal hypoperistalsis syndrome, a non-obstructive condition which is relatively rare in male infants. Our case emphasizes the compl exity of diagnosing LUTO during the prenatal period. Further studies exploring novel prenatal interven tions should pay more attention to candidate selection. Additionally, a thorough evaluation of organ systems beyond the urinary tract is necessary.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Fetal lower urinary tract obstruction (LUTO) is a congenital condition in which the bladder fails to excrete urine through the urethra. The primary goal of prenatal treatment for LUTO is the prevention of renal impairment and pulmonary hypoplasia. Vesico-amniotic shunt (VAS) has been the fetal intervention of choice; however, VAS has some limitations, including excretion of urine through an unphysiologic bypass and the need for postnatal corrective reoperation. In this study, we present a novel fetal intervention, a “retro-cystoscopic urethral approach,” performed on a male fetus at 20 weeks gestation diagnosed with enlarged bladder and bilateral hydronephrosis. This approach aims to dilate the narrowed urethra by inserting a urinary catheter using guidewire through a fetal cysto scope. The whole procedure was monitored under real-time ultrasonographic guidance. Despite prenatal intervention, the fetus required multiple cystocenteses, and the bladder dilation persisted.Postnatally, he was diagnosed with megacystis microcolon intestinal hypoperistalsis syndrome, a non-obstructive condition which is relatively rare in male infants. Our case emphasizes the compl exity of diagnosing LUTO during the prenatal period. Further studies exploring novel prenatal interven tions should pay more attention to candidate selection. Additionally, a thorough evaluation of organ systems beyond the urinary tract is necessary.

Fetal lower urinary tract obstruction (LUTO) is a congenital condition in which the bladder fails to excrete urine through the urethra. The primary goal of prenatal treatment for LUTO is the prevention of renal impairment and pulmonary hypoplasia. Vesico-amniotic shunt (VAS) has been the fetal intervention of choice; however, VAS has some limitations, including excretion of urine through an unphysiologic bypass and the need for postnatal corrective reoperation. In this study, we present a novel fetal intervention, a “retro-cystoscopic urethral approach,” performed on a male fetus at 20 weeks gestation diagnosed with enlarged bladder and bilateral hydronephrosis. This approach aims to dilate the narrowed urethra by inserting a urinary catheter using guidewire through a fetal cysto scope. The whole procedure was monitored under real-time ultrasonographic guidance. Despite prenatal intervention, the fetus required multiple cystocenteses, and the bladder dilation persisted.Postnatally, he was diagnosed with megacystis microcolon intestinal hypoperistalsis syndrome, a non-obstructive condition which is relatively rare in male infants. Our case emphasizes the compl exity of diagnosing LUTO during the prenatal period. Further studies exploring novel prenatal interven tions should pay more attention to candidate selection. Additionally, a thorough evaluation of organ systems beyond the urinary tract is necessary.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Fetal lower urinary tract obstruction (LUTO) is a congenital condition in which the bladder fails to excrete urine through the urethra. The primary goal of prenatal treatment for LUTO is the prevention of renal impairment and pulmonary hypoplasia. Vesico-amniotic shunt (VAS) has been the fetal intervention of choice; however, VAS has some limitations, including excretion of urine through an unphysiologic bypass and the need for postnatal corrective reoperation. In this study, we present a novel fetal intervention, a “retro-cystoscopic urethral approach,” performed on a male fetus at 20 weeks gestation diagnosed with enlarged bladder and bilateral hydronephrosis. This approach aims to dilate the narrowed urethra by inserting a urinary catheter using guidewire through a fetal cysto scope. The whole procedure was monitored under real-time ultrasonographic guidance. Despite prenatal intervention, the fetus required multiple cystocenteses, and the bladder dilation persisted.Postnatally, he was diagnosed with megacystis microcolon intestinal hypoperistalsis syndrome, a non-obstructive condition which is relatively rare in male infants. Our case emphasizes the compl exity of diagnosing LUTO during the prenatal period. Further studies exploring novel prenatal interven tions should pay more attention to candidate selection. Additionally, a thorough evaluation of organ systems beyond the urinary tract is necessary.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Fetal lower urinary tract obstruction (LUTO) is a congenital condition in which the bladder fails to excrete urine through the urethra. The primary goal of prenatal treatment for LUTO is the prevention of renal impairment and pulmonary hypoplasia. Vesico-amniotic shunt (VAS) has been the fetal intervention of choice; however, VAS has some limitations, including excretion of urine through an unphysiologic bypass and the need for postnatal corrective reoperation. In this study, we present a novel fetal intervention, a “retro-cystoscopic urethral approach,” performed on a male fetus at 20 weeks gestation diagnosed with enlarged bladder and bilateral hydronephrosis. This approach aims to dilate the narrowed urethra by inserting a urinary catheter using guidewire through a fetal cysto scope. The whole procedure was monitored under real-time ultrasonographic guidance. Despite prenatal intervention, the fetus required multiple cystocenteses, and the bladder dilation persisted.Postnatally, he was diagnosed with megacystis microcolon intestinal hypoperistalsis syndrome, a non-obstructive condition which is relatively rare in male infants. Our case emphasizes the compl exity of diagnosing LUTO during the prenatal period. Further studies exploring novel prenatal interven tions should pay more attention to candidate selection. Additionally, a thorough evaluation of organ systems beyond the urinary tract is necessary.

Sepsis, one of the most fatal diseases in the world, is known to culminate in multiple organ failure due to an uncontrolled inflammatory response. Hence, the use of animal models in sepsis research is very important to study complex immune responses. The current study was undertaken to compare commercial stocks with KFDA stocks of DBA/2 mice as an animal model for sepsis study. To compare responses of DBA/2 mice to lipopolysaccharides (LPS)-induced sepsis, we measured altered characteristics of various factors associated with sepsis, including survival curves, organ failure and inflammatory response, in DBA/2Korl stock and two commercial stocks (DBA/2A and DBA/ 2B). Survival rates after LPS exposure were similar for DBA/2Korl and DBA/2B; however, for times over 20 h, survival rates were reduced and concentration dependent in DBA/2A. In order to evaluate multiple organ failure caused by sepsis, H&E stains were evaluated for liver and spleen tissues obtained in the early (2 h) and later (20 h) stages after exposure to LPS; no significant differences were observed between the three stocks. mRNA and protein levels of proinflammatory cytokines were assessed for evaluating inflammatory reactions, and were found to increase in a dose-dependent manner in most DBA/2 mice after LPS treatment. However, no changes were observed in the mRNA levels of proinflammatory cytokines at 20 h after LPS exposure in the DBA/2A stock. The induction of inflammation-mediated factors by LPS exposure did not induce alterations in the mRNA levels of COX-2 and iNOS in all three DBA/2 stocks. Our results indicate that response of DBA/2Korl to LPS-induced sepsis is similar to the two commercial DBA/2 stocks, thus representing its potential as a useful biological resource established in Korea.

Sepsis, one of the most fatal diseases in the world, is known to culminate in multiple organ failure due to an uncontrolled inflammatory response. Hence, the use of animal models in sepsis research is very important to study complex immune responses. The current study was undertaken to compare commercial stocks with KFDA stocks of DBA/2 mice as an animal model for sepsis study. To compare responses of DBA/2 mice to lipopolysaccharides (LPS)-induced sepsis, we measured altered characteristics of various factors associated with sepsis, including survival curves, organ failure and inflammatory response, in DBA/2Korl stock and two commercial stocks (DBA/2A and DBA/ 2B). Survival rates after LPS exposure were similar for DBA/2Korl and DBA/2B; however, for times over 20 h, survival rates were reduced and concentration dependent in DBA/2A. In order to evaluate multiple organ failure caused by sepsis, H&E stains were evaluated for liver and spleen tissues obtained in the early (2 h) and later (20 h) stages after exposure to LPS; no significant differences were observed between the three stocks. mRNA and protein levels of proinflammatory cytokines were assessed for evaluating inflammatory reactions, and were found to increase in a dose-dependent manner in most DBA/2 mice after LPS treatment. However, no changes were observed in the mRNA levels of proinflammatory cytokines at 20 h after LPS exposure in the DBA/2A stock. The induction of inflammation-mediated factors by LPS exposure did not induce alterations in the mRNA levels of COX-2 and iNOS in all three DBA/2 stocks. Our results indicate that response of DBA/2Korl to LPS-induced sepsis is similar to the two commercial DBA/2 stocks, thus representing its potential as a useful biological resource established in Korea.