[Genetic origin of non-syndromic cleft lip and palate. TWIST, a candidate gene? Research protocol]. / L'origine génétique des fentes labio-palatines non syndromiques. TWIST, gène candidat? Protocole de recherche.

Non syndromic cleft lip and palate (CLP) is the most frequent human malformation. CLP is of complex inheritance and at least twenty contributing chromosomal regions have been identified by linkage studies. On the other hand, mutations in several genes such as TWIST and FGFR2 result in syndromic cranio-facial abnormalities of highly variable range. It is our hypothesis that some mutations at TWIST might contribute to CLP in absence of other dysmorphic features. Thus, DNA biopsies of patients with non syndromic CLP are collected and prepared to search for allelic variations or mutations at TWIST. This study should contribute to improve the classification of facial malformations relative to gene, to help to a better understanding of the inheritance pattern of this pathology, to help to genetic counselling for some cases aiming at the prevention of genetic disease. This project is based on a close cooperation between the Orthodontic Department, the Paediatric Surgery Department and the Center for Clinical Investigation (University Hospital in Strasbourg), in a joint project with an academic research laboratory, expert in molecular biology and genetics.

[Original dorsal plasty of the glans in distal hypospadias]. / Plastie dorsale originale du gland dans l'hypospadias distal "Restitutio".

UNLABELLED: The long-term follow-up of patients operated for hypospadias often reveals progressive recession of the neo-meatus, even when it is initially correctly situated. MATERIAL AND METHOD: To overcome this disadvantage, we decided to prolong the glanular groove by longitudinally incising the distal quarter of the dorsal surface of the glans. Transverse suture then defines the margins of the neo-meatus, creates or deepens the glanular groove and promotes the formation of a thick anterior wall which deeply covers a short triangular Mathieu flap. The foreskin is systematically reconstructed. Bladder drainage is ensured by an urethral stent attached to the glans for 7 days. Treatment can now be performed as an outpatient procedure. From 1992 to June 2002, 374 children, with a mean age of 25 months (range: 10 to 129 months) were treated by this technique, with foreskin reconstruction in 307 cases. The preoperative position of the meatus was posterior glanular in 31 cases (83%), peno-glanular in 191 cases (52%) and anterior penile in 152 cases (40.7%). RESULTS: All patients were reviewed with a mean follow-up of 19 months (range: 1 to 123 months). The position of the meatus was normal apical in 309 cases (82.6%): glanular: middle: 41 cases (11%); posterior: 14 cases (17%), peno-glanular: 1 case, dorsal: 6 cases (1.6%), not specified: 3 cases (tight phimosis). COMPLICATIONS: 25 fistulas (6.7%), 4 stenoses (1.1%). DISCUSSION: The usual glanular urethroplasty, by simple suture of the margins, often results in a large meatus situated in the middle of the glans. When the meatus is placed below the glans, recession can lead to an anterior penile meatus. Dorsal glanuloplasty, by elongating and deepening the glanular groove, while preserving the urethral plate, allows the construction of a solid wall around the neourethra, reducing the risks of recession and enlargement of the meatus which retains a split-like appearance and ensures a good stream. Systematic foreskin reconstruction probably also plays a role in the quality of healing. CONCLUSION: This dorsal glanuloplasty, which corrects the penis and urinary stream in more than 80% of cases without any major disadvantages, is a useful technique in hypospadias repair.

Is one-stage ureterocele repair possible in children?

AIM: To determine the long-term results of ureterocele repair, bearing in mind the relative rarity of the malformation, its very polymorphic appearance and the diversity of treatments. MATERIALS AND METHODS: Long-term results were assessed by postoperative follow-up of 126 children with 131 ureteroceles between 1970-2000. RESULTS: With a mean follow-up of 72 months, only 64.2% of children were cured after a one-stage procedure. According to the anatomical type, favourable results were obtained in 81.6% of cases with a single ureter and 57.9% of cases with a duplicated ureter. Treatment success rates for single or duplicated ureters were 73% in the case of intravesical implantation and only 53.9% (34/63 children) in ectopic forms. According to the technique, cure rates were 67.6% after distal incision in 34 children, 61.9% after total nephrectomy or upper pole nephrectomy in 42 children, 50% after ureterocele repair and ureterovesical reimplantation in 20 patients, 75% after total resection of the pathological ureter, parietal reconstruction and ipsilateral and/or contralateral reimplantation in another 20 patients. CONCLUSIONS: A one-stage procedure is only able to cure 2/3 of patients. In view of the tendency to progressive regression of often monstrous distensions during the neonatal period, first-line treatment should consist of a distal incision, followed, in the case of recurrent infections, by partial or total nephrectomy, while reserving the intravesical approach to cases with recurrent pyelonephritis. When this surgery is performed on older children or adolescents, the ureteroceles will be smaller with a lower risk of sphincter damage.

[Is one-stage ureterocele repair possible in children?]. / Peut-on corriger en un seul temps les urétérocèles de l'enfant?

AIM: To determine the long-term results of ureterocele repair, bearing in mind the relative rarity of the malformation, its very polymorphic appearance and the diversity of treatments. MATERIAL AND METHODS: Long-term results were assessed by postoperative follow-up of 126 children with 131 ureteroceles between 1970-2000. RESULTS: With a mean follow-up of 72 months, only 64.2% of children were cured after a one-stage procedure. According to the anatomical type, favourable results were obtained in 81.6% of cases with a single lumen and 57.9% of cases with a double lumen. Treatment success rates for single or double lumens were 73% in the case of intravesical implantation and only 53.9% (34/63 children) in ectopic forms. According to the technique, cure rates were 67.6% after distal incision in 34 children, 61.9% after total nephrectomy or superior pole nephrectomy in 42 children, 50% after ureterocele repair and ureterovesical reimplantation in 20 patients, 75% after total resection of the pathological lumen, parietal reconstruction and ipsilateral and/or contralateral reimplantation in another 20 patients. CONCLUSIONS: A one-stage procedure is only able to cure 2/3 of patients. In view of the tendency to progressive regression of often monstrous distensions during the neonatal period, first-line treatment should consist of a distal incision, followed, in the case of recurrent infections, by partial or total nephrectomy, while reserving the intravesical approach to cases with recurrent pyelonephritis. When this surgery is performed on older children or adolescents, the ureteroceles will be smaller with a lesser risk of sphincter damage.