Results 101 to 110 of about 85,673 (365)

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio, Margherita Scarpato, Margherita Russo, Maria Elena Onore, Giulio Piluso, TUDP Study Group, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Manuela Morleo, Nicola Brunetti Pierri, Giancarlo Parenti, Carmine Spampanato, Giulio Piluso, Michele Pinelli, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Domizia Pasquetti, Federica L. Erario, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Vincenzo Nigro, Gioacchino Scarano, Annalaura Torella   +52 more
wiley   +1 more source

Two cases of immunoglobulin G4‐related disease diagnosed by transvaginal urethral needle biopsy

IJU Case Reports, 2021
Introduction Immunoglobulin G4‐related disease is a systemic disease characterized by multifocal systemic involvement. We report two cases of women diagnosed with immunoglobulin G4‐related disease in the urethra.
Shiori Murata, Koji Inoue, Noriyuki Makita, Issei Suzuki, Masashi Kubota, Yoichiro Tohi, Yoshio Sugino, Mutsushi Kawakita   +7 more
doaj   +1 more source

Urethral duplication in children: Experience of twenty cases

Journal of Indian Association of Pediatric Surgeons, 2019
Background and Objective: Urethral duplication is a rare congenital anomaly having multiple anatomical variants and varied presentations. Multiple surgical techniques have been described for this anomaly, and no surgical technique is ideal.
Sajad Ahmad Wani, Narendra Babu Munianjana, Viney Jadhav, S Ramesh, B C Gowrishankar, J Deepak   +5 more
doaj   +1 more source

Open urethroplasty versus endoscopic urethrotomy - clarifying the management of men with recurrent urethral stricture (the OPEN trial) : study protocol for a randomised controlled trial [PDF]

, 2015
Peer reviewedPublisher ...
Barclay, Stewart, Brown, Robbie, Carnell, Sonya, Cook, Jonathan A, Goulao, Beatriz, Jackson, Matthew, Johnson, Nicola, MacLennan, Graeme, McColl, Elaine, McPherson, Gladys, Mundy, Anthony, N'Dow, James, Norrie, John, Payne, Steven, Pickard, Robert, Rapley, Tim, Rees, Rowland, Shen, Jing, Sinclair, Andrew, Stephenson, Rachel, Vale, Luke, Watkin, Nick, Wilkinson, Jennifer   +22 more
core   +4 more sources

Diagnostic Application of Flexible Cystoscope in Pelvic Fracture Urethral Distraction Defects

Urology Journal, 2006
Introduction: The aim of this study was to evaluate the diagnostic value of antegrade flexible cystoscopy in pelvic fracture urethral distraction defects (PFUDD).
Navid Reza Simaei, Amir Haji-Mohammadmehdi-Arbab, Mojtaba Mohammad Hosseini, Mohammad Jabbari, Ali Kaviani, Seyed Jalil Hosseini   +5 more
doaj  

Superglue self-insertion an unusual case of foreign body into the male urethra – A case report

Caspian Journal of Internal Medicine, 2020
Background: Foreign body insertion in the urethra and bladder are relatively rare. These patients usually insert foreign body in urethra for eroticism, inquisitiveness, or as a consequence of disinhibited or disturbed behavior. Case presentation: Herein,
Mohsen Khalili-Fomeshi, Forough Ebrahimtabar, Mohammad Reza Aghagani, Parvaneh Mirabi, Mohammad Darzi   +4 more
doaj  

Female urethral diverticulum presenting with acute urinary retention: Reporting the largest diverticulum with review of literature

Indian Journal of Urology, 2012
Female urethral diverticulum is a rare entity with diverse spectrum of clinical manifestations. It is a very rare cause of bladder outlet obstruction and should be considered as a differential diagnosis in females presenting with acute urinary retention ...
Manas Ranjan Pradhan, Priyadarshi Ranjan, Rakesh Kapoor   +2 more
doaj   +1 more source

Law of Urination: all mammals empty their bladders over the same duration [PDF]

arXiv, 2013
Many urological studies rely upon animal models such as rats and pigs whose urination physics and correlation to humans are poorly understood. Here we elucidate the hydrodynamics of urination across five orders of magnitude in animal mass. Using high-speed videography and flow rate measurement at Zoo Atlanta, we discover the "Law of Urination," which ...
arxiv  

Leiomyoma of the Female Urethra [PDF]

Urologia Internationalis, 1995
Benign smooth muscle tumors of the female urethra are rare. A case of urethral leiomyoma which had been present for 18 years before surgical removal is reported. The pathogenesis and the clinical aspects of this unusual clinical condition are discussed.
SELLI, CESARE, DAL CANTO M, CAMPANI, DANIELA, BARTOLETTI, RICCARDO, DE BENEDETTO A.   +4 more
openaire   +5 more sources

Ethnomedicinal uses, phytochemistry, pharmacological activities, and toxicology of the subfamily Gomphrenoideae (Amaranthaceae): A comprehensive review

Chemistry &Biodiversity, Accepted Article.
The subfamily Gomphrenoideae is composed of about 480 accepted species, many of which have been historically used as medicinal plants, reason why they have been studied in terms of chemical profile, biological activity, and safety. This review consolidates the advances in research on this subfamily over the past 47 years, emphasizing its promising ...
Dayanna Isabel Araque Gelves, Giulia Cristina Andreoli de Souza, Alvaro Jose Hernandez Tasco, Marcos Jose Salvador   +3 more
wiley   +1 more source