Challenges in the Diagnosis and Management of Acquired Nontraumatic Urethral Strictures in Boys in Yaoundé, Cameroon

Introduction. Urethral strictures in boys denote narrowing of the urethra which can be congenital or acquired. In case of acquired strictures, the etiology is iatrogenic or traumatic and rarely infectious or inflammatory. The aim of this study was to highlight the diagnostic and therapeutic difficulties of acquired nontraumatic urethral strictures in boys in Yaoundé, Cameroon. Methodology. The authors report five cases of nontraumatic urethral strictures managed at the Pediatric Surgery Department of the YGOPH over a two-year period (November 2012–November 2014). In order to confirm the diagnosis of urethral stricture, all patients were assessed with both cystourethrography and urethrocystoscopy. Results. In all the cases the urethra was inflammatory with either a single or multiple strictures. The surgical management included internal urethrotomy (n=1), urethral dilatation (n=1), vesicostomy (n=2), and urethral catheterization (n=3). With a median follow-up of 8.2 months (4–16 months) all patients remained symptoms-free. Conclusion. The authors report the difficulties encountered in the diagnosis and management of nontraumatic urethral strictures in boys at a tertiary hospital in Yaoundé, Cameroon. The existence of an inflammatory etiology of urethral strictures in boys deserves to be considered

Implication for Functions of the Ectopic Adipocyte Copper Amine Oxidase (AOC3) from Purified Enzyme and Cell-Based Kinetic Studies

AOC3 is highly expressed in adipocytes and smooth muscle cells, but its function in these cells is currently unknown. The in vivo substrate(s) of AOC3 is/are also unknown, but could provide an invaluable clue to the enzyme's function. Expression of untagged, soluble human AOC3 in insect cells provides a relatively simple means of obtaining pure enzyme. Characterization of enzyme indicates a 6% titer for the active site 2,4,5-trihydroxyphenylalanine quinone (TPQ) cofactor and corrected kcat values as high as 7 s−1. Substrate kinetic profiling shows that the enzyme accepts a variety of primary amines with different chemical features, including nonphysiological branched-chain and aliphatic amines, with measured kcat/Km values between 102 and 104 M−1 s−1. Km(O2) approximates the partial pressure of oxygen found in the interstitial space. Comparison of the properties of purified murine to human enzyme indicates kcat/Km values that are within 3 to 4-fold, with the exception of methylamine and aminoacetone that are ca. 10-fold more active with human AOC3. With drug development efforts investigating AOC3 as an anti-inflammatory target, these studies suggest that caution is called for when screening the efficacy of inhibitors designed against human enzymes in non-transgenic mouse models. Differentiated murine 3T3-L1 adipocytes show a uniform distribution of AOC3 on the cell surface and whole cell Km values that are reasonably close to values measured using purified enzymes. The latter studies support a relevance of the kinetic parameters measured with isolated AOC3 variants to adipocyte function. From our studies, a number of possible substrates with relatively high kcat/Km have been discovered, including dopamine and cysteamine, which may implicate a role for adipocyte AOC3 in insulin-signaling and fatty acid metabolism, respectively. Finally, the demonstrated AOC3 turnover of primary amines that are non-native to human tissue suggests possible roles for the adipocyte enzyme in subcutaneous bacterial infiltration and obesity

E-consultation for DSD: a global platform for access to expert advice

Electronic consultation (e-consultation) has been used for some years to facilitate communication between patients and their doctors, but it is also emerging as a valuable tool aiding communication between clinicians, both primary care and specialists, about a patient's care. Telehealth systems are being developed to provide video consultations to support diagnosis and management, as well as supporting clinical networks and health professional education. In some world regions, it seems increasingly likely that most rare diseases will be managed through a network of centres of expertise, and e-consultation systems may become a vital component of the service provided by these networks. Long-distance consultation across geographical and national boundaries has been used between colleagues in DSD for many years. However, the development of a robust and secure e-consultation service within the international DSD community appears to be timely. It will extend the current database and e-learning facilities, and should be achieved with the objective of providing expert opinion on a worldwide basis. It is proposed to install a steering committee to oversee the various practical, legal and cultural issues setting standards on data collection and exchange. The opportunity to broaden access to healthcare for all DSD patients and to widen discussion across the DSD community is valuable, and it is the view of the authors that this should be pursued and developed

Malformations des organes génitaux masculins issus du canal de Wolff (epididyme, deferent, vesicule seminale, canal ejaculateur). [Malformations of Wolffian duct derived male genital organs (epididymis, vas deferens, seminal vesicules, ejaculatory ducts)]

OBJECTIVES: To analyse embryological phenomena, in order to define a practical approach to management. METHODS: The authors reviewed the files of eight boys with an abnormality of Wolffian duct derived genital organs, consisting of three cases of vas deferens agenesis, two of which were accompanied by homolateral renal agenesis, one case of ectopic vas deferens with contralateral renal agenesis, three cases of duplicated vas deferens and one congenital seminal vesicle cyst with renal agenesis. DISCUSSION: Congenital malformations of the epididymis consist of cysts and agenesis or partial atresia. Cysts essentially raise a problem of differential diagnosis. Treatment is only required in the case of severe discomfort. Vas deferens agenesis is the commonest lesion, an incidental finding in children. An experimental treatment is proposed in adults. Duplications, interdeferential communications and deferentomegaly are much rarer lesions. Seminal vesicle cysts are well visualized by transrectal ultrasonography and should be treated surgically. Lastly, ejaculatory ducts may present urethroseminal reflux or may be ectopic. CONCLUSION: The possibility of absent or ectopic vas deferens should be considered in the case of unilateral renal agenesis. Vas deferens agenesis justifies examination of the contralateral side and investigation to exclude renal agenesis. Congenital cysts of the epididymis only require surgery when they are symptomatic. The presence of ipsilateral renal agenesis should be investigated in the case of cystic dilatation of the seminal vesicle

Long-term results of bladder neck reconstruction for incontinence in children with classical bladder exstrophy or incontinent epispadias.

To review the long-term results of bladder neck reconstruction (BNR) in patients with classical bladder exstrophy or epispadias, and to review the concept of continence surgery in these two groups, stressing the difficulty in finding an adequate balance between urine storage (which implies high outlet resistance and low storage pressure) and complete bladder emptying (which implies low outlet resistance and a transient increase in bladder pressure); surgery cannot achieve 'continence' (which implies active mechanisms) but only 'dryness' (which implies passive mechanisms). Eighty patients with classical bladder exstrophy (52 male, 28 female) and 25 with incontinent epispadias (17 male, 18 female) had their bladder neck reconstructed after a Young-Dees-Leadbetter procedure, subsequently modified by Mollard. The treatment is detailed and results reviewed after a mean follow-up of 11 years. All patients were treated and followed in the same institution. In the exstrophy group, 36 (45%) patients presented with a dry interval of > 3 h, with urethral emptying after one BNR; 52 (65%) presented with recurrent urinary tract infections, 19 (24%) with urinary stones, 21 (26%) with dilated upper urinary tracts, 13 (16%) with bladder perforations and one with an adenocarcinoma of the bladder. Thirty-eight patients (48%) required further surgery; 51% of all patients required an endoscopic procedure within 3 months after the BNR and 26% had endoscopic procedures for late (> 3 months) urine retention. In the epispadias group, 13 (52%) patients presented with a dry interval of > 3 h with urethral emptying after one BNR; 12 (48%) had recurrent urinary tract infections, five (20%) upper tract dilatation, two (8%) bladder stones, one (4%) bladder perforation and one an adenocarcinoma of the bowels after a ureterosigmoidostomy. Ten (40%) children required further surgery. We compared the present results for continence with those in other published series; most complications encountered were related to the obstructive pattern of bladder emptying and the abnormal bladder urodynamic behaviour caused by BNR. We consider that BNR is unpredictable and the roles of the other factors in urinary continence are discussed. Alternative procedures are detailed. The concept of continence surgery in exstrophy and incontinent epispadias is reviewed, stressing the importance of favouring bladder development and limiting obstructive patterns of bladder emptying that cause severe and recurrent complications

Tumoral and pseusotumoral processes of the vagina in the pediatric population: A 26-YEAR retrospective study

International audienceBACKGROUND: Vaginal lesions are rare and of various types in children. Clinical presentation is generally undifferenciated. Histological examination is fundamental to ascertain the nature of the lesion. Regarding tumoral lesions, histological subtypes encountered are radically different from those seen in adults, dominated by stromal benign lesions. OBJECTIVE: The aim of this retrospective study was to describe characteristics and pathological aspects of pediatric vaginal lesions, diagnosed in a single pediatric experienced center. STUDY DESIGN: A database analysis was performed on all vaginal samples of patients under 18 years old received in a pediatric-specialized pathology laboratory of an academic hospital, over a 26-year period. RESULTS: Among 36 vaginal tissue samples reported, a total of 15 tumoral or pseudotumoral processes was recorded. Primitive malignant tumors included embryonal rhabdomyosarcoma (n = 3) and germ-cell tumors, yolk-sac type (n = 2). Benign tumoral or pseudotumoral processes included inflammatory stromal polyps (n = 8), epidermic cyst (n = 1), and benign Müllerian papilloma (n = 1). DISCUSSION: Over 15 primitive vaginal tumors, 1/3 was malignant with embryonal rhabdomyosarcoma being the most common. The remaining 2/3 specimens were benign, with stromal inflammatory lesions being the most commonly observed. Fibro-epithelial polyp is a debated entity, which covers a wide histological spectrum, with varying inflammation and stromal cellularity, raising sometimes the question of the differential diagnosis with rhabdomyosarcoma. Stromal cells morphology along with their immunohistochemical profile suggest their reactive myofibroblastic nature. Pseudotumoral inflammatory lesions display very similar histological findings with these entities. A common pathogenesis beginning with an inflammatory process, potentially accelerated by chronic traumatic factors, could be discussed. CONCLUSION: We confirmed the rarity and the diversity of vaginal lesions in children. Vaginoscopy and biopsy sample should be systematic, given the non-specific presentation of tumoral processes. Myogenin immunostain must be systematic in case of vaginal polypoid mass, in order to rule out malignancy

Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases

Mixed gonadal dysgenesis is characterised by unilateral chromosomal abnormality, which is probably the result of anaphase lag during mitosis. The 45, XO/46, XY karyotype is the most common form of mosaicism involving the Y chromosome. It is a rare clinical entity with a worldwide incidence of 1.5/10,000 live births. Its epidemiology in Sub-Saharan Africa is not known. This study reports experience in the management of 3 cases at the Yaounde Gynecologic-Obstetric and Paediatric Hospital. From November 2009 to November 2014, 3 cases were successfully managed at our institution. Results: All patients presented with asymmetrical gonadal differentiation. On one side of the body, a poorly-developed testicular gonad and on the other side a gonadal streak. A persistent Mόllerian remnant was equally found in the 3 cases. Management of mixed gonadal dysgenesis should be done in tertiary health care centres. A multidisciplinary team approach is recommended

A case report of Cowper′s syringocele in an 18-months old infant at the Yaoundé Gynaeco-Obstetric and Pediatric Hospital

Syringocele or dilatation of the duct of the bulbo-urethral (Cowper′s) gland is usually of congenital origin but can be acquired. It is a very rare deformity, <10 cases have been reported in literature. The main objective is to describe an additional case of syringocele of Cowper′s glands and review the literature. An 18-month-old infant presented with a history of acute urinary retention 3 days after birth and a cystostomy was done. Voiding cystourethrogram was normal and cystourethroscopy showed a syringocele. Endoscopic incision was performed in our patient with satisfactory results. No complications were noted. Syringocele or cystic dilatation of Cowper′s gland duct usually has a congenital aetiology. Diagnosis is confirmed by endoscopy. Treatment is by marsupialisation in the urethra by endoscopy. Syringocele is a rare pathology usually congenital. It should be suspected in all case of lower urinary tract obstruction in children