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urethral duplication

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https://www.readbyqxmd.com/read/28018807/urethral-duplication-with-two-hypospadic-meati-an-unusual-variant
#1
Joseph Rutherford Davidson, Naomi Jane Wright, Massimo Garriboli
Duplication of the urethra is a rare congenital anomaly, with approximately 300 cases reported in the literature. We report a unique case of this condition in a male infant. This case differs from the classical Effman type II-A2 duplication because of the presence of two hypospadic urethral meati, as opposed to a ventral or dorsal accessory meatus with a normally positioned distal urethra. The patient underwent a single-stage repair consisting of a proximal urethra-urethral anastomosis and distal urethral tubularization at 21 months of age with excellent results in terms of both function and cosmesis...
December 2016: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/27989796/altered-sox9-genital-tubercle-enhancer-region-in-hypospadias
#2
REVIEW
Rajini Sreenivasan, Christopher T Gordon, Sabina Benko, Robb de Iongh, Stefan Bagheri-Fam, Stanislas Lyonnet, Vincent Harley
Human mutations in the SOX9 gene or its regulatory region can disrupt testicular development, leading to disorders of sex development (DSDs). Our previous work involving the genomic analysis of isolated DSD patients revealed a 78kb minimal sex determining region (RevSex) far upstream of SOX9 that was duplicated in 46,XX and deleted in 46,XY DSDs. It was postulated that RevSex contains a gonadal enhancer. However, the most highly conserved sub-region within RevSex, called SR4, was neither responsive to sex determining factors in vitro nor active in the gonads of transgenic mice, suggesting that SR4 may not be functioning as a testicular enhancer...
October 28, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27912972/fate-of-males-with-urethral-y-duplication-40-year-long-follow-up-in-8-patients
#3
Mario Lima, Francesca Destro, Neil Di Salvo, Tommaso Gargano, Giovanni Ruggeri
PURPOSE: The spectrum of male urethral duplication is heterogeneous and it includes the Y-duplication. The malformation is rare and there is only a few case series reported in the literature. The management of Y-forms remains challenging for the surgeon and the long-term follow-up is still scarcely investigated. We report our 40-year experience in the management of patients with Y-duplication. MATERIALS AND METHODS: We conducted a restrospective analysis collecting information of patients with urethral Y-duplication treated at our department from April 1975 to April 2015...
November 17, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27890404/incomplete-urethral-duplication-associated-with-a-dermoid-cyst-in-a-dog-with-urinary-obstruction
#4
F Thierry, S Drew, J Del-Pozo, N Fernandez-Salesa, S Woods, G Stanzani, T Liuti
A 20-month-old male miniature dachshund was evaluated for a 10-week history of intermittent stranguria, pollakiuria, haematuria and obstructive urolithiasis. Retrograde urethrocystography revealed a subcutaneous saccular structure in the perineal area connected to the intrapelvic urethra associated with urolithiasis. After excision of the perineal saccular structure, microscopical examination confirmed the presence of transitional epithelium lining the diverticulum, with isolated submucosal smooth muscle bundles...
November 24, 2016: Journal of Comparative Pathology
https://www.readbyqxmd.com/read/27887914/practical-and-functional-classification-of-the-double-urethra-a-variable-complex-and-fascinating-malformation-observed-in-20-patients
#5
M Lima, F Destro, M Maffi, D Persichetti Proietti, G Ruggeri
INTRODUCTION: Urethral duplication is a rare and variable malformation of the urinary tract, with non-univocal and complex management. In addition, different classification schemes have been proposed, but none have considered all the possible variants. OBJECTIVE: To report experience with the management of 20 urethral duplication patients and propose a classification of this anomaly. MATERIALS AND METHODS: A retrospective analysis collecting information regarding 20 patients (Table) with urethral duplication treated at a single institution over the past 40 years...
November 3, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27814383/adult-gli2-gli3%C3%AE-699-male-and-female-mice-display-a-spectrum-of-genital-malformation
#6
Fei He, Pedram Akbari, Rong Mo, Jennifer J Zhang, Chi-Chung Hui, Peter C Kim, Walid A Farhat
Disorders of sexual development (DSD) encompass a broad spectrum of urogenital malformations and are amongst the most common congenital birth defects. Although key genetic factors such as the hedgehog (Hh) family have been identified, a unifying postnatally viable model displaying the spectrum of male and female urogenital malformations has not yet been reported. Since human cases are diagnosed and treated at various stages postnatally, equivalent mouse models enabling analysis at similar stages are of significant interest...
2016: PloS One
https://www.readbyqxmd.com/read/27695215/coexisting-urogenital-anomaly-and-duodenal-atresia-in-two-atypical-holt-oram-syndrome
#7
Tuncer Ahmet Ali, Karavelioğlu Afra, Baskin Embleton Didem, Elmas Muhsin
Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature.
October 2016: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/27695207/scrotal-abscess-varied-etiology-associations-and-management
#8
Raghu S Ramareddy, Anand Alladi
AIM: To report a series of scrotal abscess, a rare problem, their etiology, and management. MATERIALS AND METHODS: A retrospective study of children who presented with scrotal abscess between January 2010 and March 2015, analyzed with respect to clinical features, pathophysiology of spread and management. RESULTS: Eight infants and a 3-year-old phenotypically male child presented with scrotal abscess as a result of abdominal pathologies which included mixed gonadal dysgenesis (MGD) [1]; three anorectal malformations with ectopic ureter [1], urethral stricture [1], and neurogenic bladder [1]; meconium peritonitis with meconium periorchitis [2], ileal atresia [1], and intra-abdominal abscess [1]; posturethroplasty for Y urethral duplication with metal stenosis [1] and idiopathic pyocele [1]...
October 2016: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/27614119/urological-findings-in-beckwith-wiedemann-syndrome-with-chromosomal-duplications-of-11p15-5-evaluation-and-management
#9
Carmen C Tong, Kelly A Duffy, David I Chu, Dana A Weiss, Arun K Srinivasan, Douglas A Canning, Jennifer M Kalish
Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder with various congenital anomalies. Although the most classic constellation includes macrosomia, macroglossia, and omphalocele, nephrourological findings are commonly associated with BWS. Clinical presentation is highly variable because of its complex molecular heterogeneity, which involves changes in DNA methylation and disruption of growth regulatory genes. We report 3 pediatric patients, ages 13 months to 3 years old, who presented with clinical features consistent with BWS...
September 7, 2016: Urology
https://www.readbyqxmd.com/read/27522318/male-and-female-aphallia-associated-with-severe-urinary-tract-dysplasia
#10
Ariella A Friedman, Paul F Zelkovic, Edward F Reda, Israel Franco, Lane S Palmer
INTRODUCTION: Aphallia is exceedingly rare (1/30 million births). Previous reports have provided limited detail on associated urinary tract findings. OBJECTIVE: We reviewed urinary tract anomalies in two boys with aphallia (patients 1 and 2) and a girl with urinary tract dysplasia, a similar external appearance and lack of corporal tissue (patient 3), also consistent with aphallia. CASE REPORTS (FIGURE): Patients 1 and 2 both had a 46XY karyotype, bilateral descended testes in well-formed scrotums, and posterior skin tags containing rudimentary urethras...
August 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27351325/reproducibility-of-leak-point-pressure-in-female-stress-urinary-incontinence
#11
Eu Chang Hwang, Sun Ouck Kim, Dong Deuk Kwon
PURPOSE: To assess the reproducibility of the Valsalva leak point pressure (VLPP) based on urodynamics in females with stress urinary incontinence (SUI). MATERIALS AND METHODS: From October 2008 to December 2009, 65 consecutive women with urodynamically confirmed SUI underwent duplicate VLPP measurements. The intra-individual reproducibility of the VLPP recording obtained by one urologist was determined. The two observations were separated by a 10-min interval. RESULTS: The differences between the repeated measurements were not significant (initial vs...
2016: Urology Journal
https://www.readbyqxmd.com/read/27317623/results-of-distal-hypospadias-repair-after-pediatric-urology-fellowship-training-a-comparison-of-junior-surgeons-with-their-mentor
#12
N C Bush, T D Barber, D Dajusta, J C Prieto, A Ziada, W Snodgrass
BACKGROUND: Teaching and learning hypospadias repair is a major component of pediatric urology fellowship training. Educators must transfer skills to fellows, without increasing patient complications. Nevertheless, few studies report results of surgeons during their first years of independent practice. PURPOSE: To review outcomes of distal hypospadias repairs performed during the same 2-year period by consecutive, recently matriculated, surgeons in independent practice, and to compare them to results by their mentor (with >20 years of experience)...
June 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27307964/complete-urethral-duplication-in-children-a-case-report
#13
Fatollah Roshanzamir, Alireza Mirshemirani, Javad Ghoroubi, Alireza Mahdavi, Leily Mohajerzadeh, Mehdi Sarafi
INTRODUCTION: Urethral duplication (UD) is a rare congenital anomaly with multiple anatomical variants. CASE PRESENTATION: In this article we present a four year-old child with complete UD. The patient was admitted for hypospadias repair, in evaluation we found type IIA1 UD according to Effmann classification. Patient underwent hypospadias repair saving complete UD. CONCLUSIONS: After one year follow-up he has normal and continent urination...
April 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/27282422/quadrivalent-vaccine-targeted-human-papillomavirus-genotypes-in-heterosexual-men-after-the-australian-female-human-papillomavirus-vaccination-programme-a-retrospective-observational-study
#14
Eric P F Chow, Dorothy A Machalek, Sepehr N Tabrizi, Jennifer A Danielewski, Glenda Fehler, Catriona S Bradshaw, Suzanne M Garland, Marcus Y Chen, Christopher K Fairley
BACKGROUND: Australia introduced a national quadrivalent human papillomavirus (4vHPV) vaccination programme for girls and young women in April, 2007. The HPV genotypes targeted by the female vaccine could also affect the protection afforded to heterosexual men. We examined the prevalence of 4vHPV targeted vaccine genotypes and the nine-valent HPV (9vHPV)-targeted vaccines genotypes among sexually active, predominantly unvaccinated heterosexual men from 2004 to 2015. METHODS: We did a retrospective, observational study of urine and urethral swab specimens from heterosexual men aged 25 years or younger attending the Melbourne Sexual Health Centre between July 1, 2004, and June 30, 2015, who tested positive for Chlamydia trachomatis...
January 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/27267991/urethral-duplication-in-girls-three-cases-associating-an-accessory-epispadiac-urethra-and-a-main-hypospadiac-urethra
#15
A Bouty, Y Lefevre, L Harper, E Dobremez
INTRODUCTION: Urethral duplication is extremely rare in girls, with less than 40 cases reported so far. Most of them present as a prepubic sinus. Literature is scare regarding aetiology, classification and management in other forms. This study presents three cases of sagittal urethral duplication in girls presenting a main hypospadiac urethra and an accessory epispadiac urethra. PATIENTS AND METHODS: Medical records were retrospectively reviewed of three girls with urethral duplication managed over a 30-year period at a single institution...
August 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27261184/genetic-basis-of-posterior-urethral-valves-inheritance
#16
Cinzia Chiaramonte, Denisia Bommarito, Elisa Zambaiti, Vincenzo Antona, Giuseppe Li Voti
OBJECTIVE: To highlight genetic pattern of posterior urethral valves (PUVs), we performed a genetic study on 2 siblings affected. PUVs are the most common congenital cause of lower urinary tract obstruction and an important cause of renal failure in infants (50% progress to end-stage renal disease in 10 years). PUVs occur in 1 of 5000-8000 male infants, but real incidence is arduous to determine because of the wide spectrum of possible clinical presentation. A different recurrence rate is reported in African Americans and children with Down syndrome, although usually PUVs are not found in syndromic conditions but constitute an isolated disorder...
September 2016: Urology
https://www.readbyqxmd.com/read/27127361/urethral-duplication-with-unusual-cause-of-bladder-outlet-obstruction
#17
Vivek Venkatramani, Arun Jacob Philip George, J Chandrasingh, Arabind Panda, Antony Devasia
A 12-year-old boy presented with poor flow and recurrent urinary tract infections following hypospadias repair at the age of 3 years. The evaluation revealed urethral duplication with a hypoplastic dorsal urethra and patent ventral urethra. He also had duplication of the bladder neck, and on voiding cystourethrogram the ventral bladder neck appeared hypoplastic and compressed by the dorsal bladder neck during voiding. The possibility of functional obstruction of the ventral urethra by the occluded dorsal urethra was suspected, and he underwent a successful urethro-urethrostomy...
April 2016: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/27019911/-the-comparison-of-real-time-pcr-and-direct-immunofluorescence-in-laboratory-diagnostics-of-chlamydiosis-in-patients-of-department-of-dermatology-and-venereology-medical-university-of-warsaw
#18
COMPARATIVE STUDY
Ewa Skulska, Beata Młynarczyk-Bonikowska, Szymon Walter de Walthoffen, Grażyna Młynarczyk, Magdalena Malejczyk, Sławomir Majewski
INTRODUCTION: Chlamydial infection is one of the most common bacterial sexually transmitted diseases. The aim of the study was to compare Real Time PCR and Direct Immunofluorescence (DIF) in laboratory diagnostics of Chlamydia trachomatis infection in patients of Department of Dermatology and Venereology in Warsaw. METHODS: We investigated the urethral, cervical, anal and pharyngeal specimens from 152 patients of Department of Dermatology and Venereology in Warsaw...
2015: Medycyna Doświadczalna i Mikrobiologia
https://www.readbyqxmd.com/read/26965407/idiopathic-female-pseudohermaphroditism-with-urethral-duplication-and-female-hypospadias
#19
Aureen Ruby D'Cunha, Jujju Jacob Kurian, Tarun John K Jacob
Female hypospadias is a rare anomaly of the female urethra where it opens on the anterior vaginal wall anywhere between the introitus and the fornix. It is often associated with other genitourinary anomalies such as Cloacal malformation, female pseudohermaphroditism, nonneurogenic neurogenic bladder and urethral duplication. Idiopathic female pseudohermaphroditism is extremely rare, and most cases occur secondary to adrenogenital syndrome or maternal androgen exposure. We report a unique case of a 1-year and 4-month-old girl who presented with ambiguous genitalia and renal failure secondary to a non-neurogenic neurogenic bladder...
March 10, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/26904349/management-of-urinary-incontinence-in-complete-bladder-duplication-by-injection-of-bulking-agent-at-bladder-neck-level-into-the-proximal-urethra
#20
Reza Khorramirouz, Seyedeh Sanam Ladi Seyedian, Sorena Keihani, Abdol-Mohammad Kajbafzadeh
Bladder duplication is a rare entity in children. The term encompasses a wide spectrum of anomalies from isolated bladder duplication in coronal or sagittal planes to duplicated bladder exstrophy and associated musculoskeletal and visceral anomalies. Given this wide variability, the treatment of these patients is not standardized. We hereby present a female patient with chief complaint of long-standing urinary incontinence who had complete bladder and urethral duplication and pubic diastasis. The patient was treated with bulking agent injection at the incompetent bladder neck and proximal urethra with resolution of incontinence, obviating the need for extensive surgeries...
2016: Case Reports in Surgery
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