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2. Addition of temsirolimus to chemotherapy in children, adolescents, and young adults with intermediate-risk rhabdomyosarcoma (ARST1431): a randomised, open-label, phase 3 trial from the Children's Oncology Group

Author

Gupta, Abha A, Xue, Wei, Harrison, Douglas J, Hawkins, Douglas S, Dasgupta, Roshni, Wolden, Suzanne, Shulkin, Barry, Qumseya, Amira, Routh, Jonathan C, MacDonald, Tamara, Feinberg, Shari, Crompton, Brian, Rudzinski, Erin R, Arnold, Michael, and Venkatramani, Raj

Published
2024
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17. Majority of females with a life-long experience of CAH and parents do not consider females with CAH to be intersex

Author

Braga, Luis H., Donahue, Kelly L., Eugster, Erica A., Fleming, Louise K., Frady, Heather M., Fuqua, John S., Geffner, Mitchell E., Hensel, Devon J., Kim, Mimi S., Kokorowski, Paul, Lekarev, Oksana, Leland, Brian D., Lin-Su, Karen, Meyer-Bahlburg, Heino F.L., Nebesio, Todd D., Poppas, Dix P., Speiser, Phyllis W., Szymanski, Konrad M., Rink, Richard C., Routh, Jonathan C., Whittam, Benjamin, Talib, Rashida, and Yasuda, Patrice M.

Published
2021
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33. Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux

Author

Elahi, Shan, Homstad, Alison, Vaidya, Himani, Stout, Jennifer, Hall, Gentzon, Wu, Guanghong, Conlon, Peter, Routh, Jonathan C., Wiener, John S., Ross, Sherry S., Nagaraj, Shashi, Wigfall, Delbert, Foreman, John, Adeyemo, Adebowale, Gupta, Indra R., Brophy, Patrick D., Rabinovich, C. Egla, and Gbadegesin, Rasheed A.

Subjects
Bladder diseases -- Research -- Risk factors -- Development and progression -- Care and treatment, Chronic kidney failure -- Research -- Risk factors, Health
Abstract

Background Primary vesicoureteral reflux (PVUR) is the most common malformation of the kidney and urinary tract, and reflux nephropathy is a major cause of chronic kidney disease in children. Recently, we reported mutations in the tenascin XB gene (TNXB) as a cause of PVUR with joint hypermobility. Methods To define the role of rare variants in tenascin genes in the etiology of PVUR, we screened a cohort of patients with familial PVUR (FPVUR) and non-familial PVUR (NFPVUR) for rare missense variants inTNXB and the tenascin C gene (TNC) after excluding mutations in ROBO2 and SOX17. Results The screening procedure identified 134 individuals from 112 families with PVUR; two families with mutations in ROBO2 were excluded from further analysis. Rare missense variants in TNXB were found in the remaining 110 families, of which 5/55 (9 %) families had FPVUR and 2/55 (4 %) had NFPVUR. There were no differences in high-grade reflux or renal parenchymal scarring between patients with and without TNXB variants. All patients with TNXB rare variants who were tested exhibited joint hypermobility. Overall we were able to identify causes of FPVUR in 7/57 (12 %) families (9 % in TNXB and 3 % in ROBO2). Conclusions In conclusion, the identification of a rare missense variant in TNXB in combination with a positive family history of VUR and joint hypermobility may represent a non-invasive method to diagnose PVUR and warrants further evaluation in other cohorts., Author(s): Shan Elahi[sup.1] , Alison Homstad[sup.1] [sup.2] , Himani Vaidya[sup.1] [sup.2] , Jennifer Stout[sup.1] , Gentzon Hall[sup.2] [sup.3] , Guanghong Wu[sup.2] [sup.3] , Peter Conlon[sup.1] , Jonathan C. Routh[sup.1] [sup.4] [...]

Published
2016
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47. Robot-assisted laparoscopic anterior urethral diverticulectomy.

Author

O'Shea, Michele, Routh, Jonathan C., and Siddiqui, Nazema Y.

Subjects
*URETHRA, *SURGICAL robots, *URINATION disorders, *DIVERTICULUM, *MAGNETIC resonance imaging, *LAPAROSCOPIC surgery, *BRAIN abscess, TUMOR surgery
Abstract

Introduction and hypothesis: A 31-year-old patient with a history of fetal sacrococcygeal teratoma requiring tumor resection and pelvic reconstruction in infancy presented with a 3-year history of recurrent vulvar abscesses and voiding dysfunction. Magnetic resonance imaging demonstrated a fluid collection posterior to the pubic bone and inferior to the bladder. The objective was to demonstrate the key steps in the resection and repair of an anterior urethral diverticulum via robot-assisted laparoscopic approach. Methods: Cystoscopy followed by robot-assisted laparoscopic retropubic dissection was used for resection of an anterior urethral diverticulum followed by urethral reconstruction. Results: Cystoscopy revealed a large anterior cavity at the midpoint of the urethra consistent with an anterior urethral diverticulum. This likely tracked inferiorly toward her vulva during repeated episodes of infection expressing through her recurrent abscesses. Retropubic space exploration revealed dense fibrotic tissue adherent to the underside of the pubic tubercule contiguous with the anterior urethral diverticulum, which was successfully resected. Conclusions: Female anterior urethral diverticulum is a rare entity. A robot-assisted laparoscopic approach can be safely utilized to identify and resect an anterior urethral diverticulum. Key points include optimization of port placement, use of a council-tip catheter to facilitate bladder drainage in the setting of distorted pelvic anatomy, and multi-layered tension-free urethral closure with flap placement. [ABSTRACT FROM AUTHOR]

Published
2023
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48. Medical management of neurogenic bladder in patients with spina bifida: A scoping review.

Author

Fairchild, Rebecca J., Aksenov, Leonid I., Hobbs, Kevin T., Krischak, Madison K., Kaplan, Samantha J., Purves, J. Todd, Wiener, John S., and Routh, Jonathan C.

Abstract

Neurogenic bladder is a common source of morbidity in patients with spina bifida and can cause renal damage. Medical management may include imaging, urodynamic studies (UDS), laboratory testing, clean intermittent catheterization (CIC), and medication. There is ongoing debate regarding the optimal management regimen. Approaches are described by two paradigms: proactive and expectant management. In a proactive approach, invasive interventions like CIC and UDS are initiated before the onset of renal abnormalities. In expectant management, UDS, CIC, and medications are started after abnormalities are identified. In this scoping review, we aim to comprehensively review existing literature on outcomes of proactive and expectant management of neurogenic bladder in patients with spina bifida. We searched multiple databases and screened articles for inclusion using PRISMA-ScR guidelines. Included studies reported clinical outcomes of any aspect of proactive or expectant neurogenic bladder management in patients with spina bifida. Ultimately, 74 articles were included for review including 67 cohort studies, 4 cross-sectional studies, 2 sequential cohort studies, and 1 randomized control trial. Eleven studies directly compared management strategies. There was substantial heterogeneity in study designs, management protocols, and reported outcomes. Most studies addressed multiple simultaneous aspects of management without specifically analyzing individual aspects. However, some commented on individual aspects of management including UDS (13), CIC (32), imaging (7), and medication (5). Although there was no consensus about optimal management, all direct comparisons of paradigms supported a proactive approach. Our review identified a broad body of literature about optimal management of neurogenic bladder. Existing studies vary greatly in terms of treatment protocols, measured outcomes, and management recommendations. Overall, studies that directly compare management are scarce but favor proactive management. Given the implications on clinical outcomes, it is crucial to focus future work on directly comparing management strategies and isolating the effects of different individual management elements. [ABSTRACT FROM AUTHOR]

Published
2023
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