[Imaging strategy for children after a first episode of pyelonephritis]. / Explorations morphologiques après un premier épisode de pyélonéphrite chez l'enfant.

Pyelonephritis is a common bacterial disease in young children and is a serious infection because of its potential to produce renal scarring. One of the concerns of physicians is therefore the diagnosis of uropathy at risk for recurrence of pyelonephritis, especially high-grade reflux. There are no French recommendations on imaging evaluation after a first episode of pyelonephritis. Voiding cystography was systematically proposed years ago and recommended by the American Academy of Pediatrics until 1999. This systematic strategy exposed all children to a painful, irradiating exam, and exposed them to urinary tract infection. The American recommendations changed in 2011 and cystography is now only proposed to children with recurrence of pyelonephritis or with ultrasound abnormalities. A collaborative review of the literature involving the Pediatric Emergency, Nephrology and Surgery Departments at Necker-Enfants-Malades Hospital led us to propose an algorithm for imaging after the first episode of pyelonephritis in children. This algorithm was based on data from the past medical history (results of prenatal ultrasonography or recurrence of pyelonephritis), the results of the ultrasound exam at the time of diagnosis, and the procalcitonin concentration, to limit the indications for voiding cystography, limiting risk for delaying high-grade reflux diagnosis. Children with low risk for high-grade reflux can be followed up with an ultrasound exam 6 months after acute infection.

[Anorectal malformations]. / Malformations ano-rectales.

Anorectal malformations (ARM) are the result of an abnormal development of the terminal part of the digestive tract interesting anus and/or rectum that occur early between the sixth and tenth week of embryonic development. They carry a malformation spectrum of severity depending on the level of disruption of the anorectal canal and of the associated caudal malformations (sacrum and spine). ARM are associated in over half the cases with other malformations that can be integrated in some cases in known syndromes. If surgical treatment to restore anatomy as normal as possible is indispensable, post-operative care is essential for these patients whose defecation mechanisms are altered, to reach if not continence, at least a socially acceptable cleanliness.

Outcome of continence procedures after failed endoscopic treatment with dextranomer-based implants (DEFLUX®).

PURPOSE: To evaluate outcome of further continence procedures after failure of endoscopic injections of dextranomer-based bulking agent. MATERIALS AND METHODS: From 1997, 89 children (3-18 years) and one young adult were treated for incontinence with 145 endoscopic injections of dextranomer. On evaluation, each patient was classified as: dry, significantly improved, or treatment failure. Eighty-five patients had at least 12 months of follow up. Out of 34 (40%) treatment failures, 24 patients had a subsequent bladder neck procedure: artificial urinary sphincter (7), bladder neck plasty (9), bladder neck closure (1), fascial sling (3). Six patients had further endoscopic treatment (including 2 after bladder neck plasty). RESULTS: At surgery, Deflux(®) paste was easily identified with minimal surrounding tissue inflammatory reaction. Artificial urinary sphincter: all 7 dry; bladder neck plasty: 7 dry, 1 improved and 1 still incontinent; 1 bladder neck closure patient dry; fascial sling: 1 significantly improved and 2 dry. Repeated endoscopic treatment: 1 dry, 1 improved and 4 failed. Eleven of the 21 (52%) patients who are either dry or improved have voiding abilities. CONCLUSION: Endoscopic injections with dextranomer do not adversely affect the outcome of further surgical procedures. Repeated injections after a previous endoscopic treatment failure have a low success rate.

Foxl-2 in gonad development and pathology.

The Foxl-2 gene is involved in eyelid and ovary development. Mutations can lead to a shortened protein and malformations such as BPES associated or not to POF. Forkhead point mutation C134W is a marker of adult type granulosa cell tumors only. Foxl-2 dysregulation is also present in DSD and DSD associated tumors such as Gonadoblastoma and gonadoblastoma like intratubular undetermined germ cell neoplasia. A similar spectrum of pathology involvement is also found for WT1 and RET and gives a new insight into the relationship between development, malformations and oncogenesis.

Hypospadias: surgery and complications.

The aim of this review is to summarize the various steps of the surgical procedures to treat a hypospadias. Hundreds of procedures have been described but most of them follow the same principles. They include correction of a ventral curvature, the urethroplasty itself and penile skin reconstruction. Most of the affected children may be treated with a one-stage procedure. Each hypospadias surgeon has to know a variety of techniques and tailor the procedure used for each individual child. Complications are frequent after the hypospadias correction. Fistulas are the more frequent of these complications occurring in less than 5% of anterior cases, but up to 50% in posterior cases. Long-term follow-up is mandatory to evaluate the sexual outcome of the adults operated on during childhood for a posterior hypospadias, even if the available data seem reassuring.

Keyhole sign: how specific is it for the diagnosis of posterior urethral valves?

OBJECTIVES: Posterior urethral valves (PUV) are the most common cause of renal impairment in boys during early childhood. Although antenatal suspicion of this pathology has become quite common in recent years, prenatal diagnosis remains challenging. The aim of this study was to evaluate the predictive value of different ultrasound criteria currently used to diagnose PUV. METHODS: We reviewed the antenatal and postnatal files of 54 male patients referred to our center from 2000 to 2006 after detection of fetal bilateral hydronephrosis. The following ultrasound criteria were evaluated in relation to the postnatal diagnosis of PUV: amniotic fluid volume, bladder wall thickness, bladder dilatation and the presence of the 'keyhole sign'. RESULTS: Forty-two fetuses (77.8%) were suspected to have PUV on prenatal examination. Out of these, 29 (69.0%) had PUV confirmed postnatally. The sensitivity and specificity of the antenatal diagnosis of PUV were 94% and 43%, respectively. Increased bladder wall thickness and bladder dilatation were highly associated with the diagnosis of PUV (P < 0.001). However, a thick-walled bladder was observed in 39.1% and a dilated bladder in 47.8% of the infants with a postnatal diagnosis other than PUV. The presence of the keyhole sign was not found to predict a diagnosis of PUV (P = 0.27). CONCLUSION: In this series the use of classical prenatal ultrasound signs to diagnose PUV showed high sensitivity but low specificity. The best diagnostic indicators were increased bladder wall thickness and dilatation of the bladder. The keyhole sign was not found to be a reliable predictor of PUV.

Artificial urinary sphincter in children--voiding or emptying? An evaluation of functional results in 44 patients.

PURPOSE: We evaluated functional results with an artificial urinary sphincter in children and adolescents in terms of complications, continence and voiding ability through followup. MATERIALS AND METHODS: A total of 44 patients (39 males and 5 females, age 8.6 to 29.5 years, median 14) underwent implantation of a pericervical AMS 800trade mark artificial urinary sphincter, primarily for severe urinary incontinence of neuropathic origin, between 1986 and 2005. Of the patients 25 had undergone augmentation cystoplasty previously (8), simultaneously (7) or after implantation (10). Median followup was 5.5 years (range 1 to 18). Complications included dysuria and/or urinary retention (24 cases), worsening of bladder function (13), urethral erosion (2), scrotal erosion (5), mechanical dysfunction (7), infection of the artificial urinary sphincter (2) and accidental puncture of the tubes (2). These complications resulted in 9 removals, 5 deactivations, 6 revisions and 5 total replacements. RESULTS: Of 44 patients 9 (20%) were incontinent after removal of the artificial urinary sphincter. Among the remaining patients 32 (73%) were dry and 3 (7%) were incontinent with a deactivated device. Of the 35 patients with an artificial urinary sphincter in place 17 (48.6%) voided to completion with spontaneous voiding, 9 (25.7%) performed post-void clean intermittent catheterization and 9 (25.7%) emptied exclusively with clean intermittent catheterization. The ability to maintain voiding to completion after implantation was significantly decreased when the artificial urinary sphincter was implanted before puberty (p = 0.0025) or in conjunction with an augmented bladder (p = 0.01). CONCLUSIONS: The artificial urinary sphincter provides a good rate of continence. However, complications are frequent, leading to removal in 20% of the cases. In time only a limited number of patients can empty the bladder without clean intermittent catheterization.

Voiding ultrasonography: evaluation of the detection of vesicoureteral reflux based on the review of digital ultrasound clips.

PURPOSE: To evaluate the accuracy of voiding urosonography (VUS) compared to X-ray voiding cystoureterography (VCUG) for the detection and grading of vesicoureteral reflux (VUR) by standardised reading of digital clips obtained from VUS and digital images from VCUG. MATERIALS AND METHODS: Approval by the ethics committee was obtained, and written, informed consent was given. 130 children (94 girls and 36 boys, mean age of 4.4 years) underwent VUS using Levovist (Schering, Germany) prior to VCUG. Digital VUS clips and digital VCUG images were reviewed by two groups of two radiologists. Results were mainly analysed in terms of reno-ureteral units (RUUs). Intra and interobserver reproducibility was estimated by calculation of kappa coefficient. Calculation of sensitivity and specificity of VUS was made in comparison with VCUG. RESULTS: Intraobserver reproducibility was good to moderate for the detection of VUR using VUS (kappa = 0.67 and 0.53 for each reviewer respectively) and good for the grading of reflux (kappa = 0.64 and 0.70). Interobserver reproducibility was excellent for the detection and grading of VUR using VCUG (kappa = 0.89 and 0.91) but good to moderate for VUS (kappa = 0.73 and 0.51). Compared to VCUG, sensitivity and specificity of VUS for the detection of VUR were 62.7 % and 83.4 %. Concordance for grading was moderate, with a higher grading using VUS. CONCLUSION: Real-time evaluation and diagnosis based on the review of VUS digital clips is achievable. However, there is a need for standardisation of digital records if a second reading by another radiologist or consideration by urologists is needed. Recent advances in US technology and the use of second-generation contrast agents would be promising to improve the feasibility, reproducibility and accuracy of the method.

Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.

Deletions of distal chromosome 9p24 are often associated with 46,XY gonadal dysgenesis and, depending on the extent of the deletion, the monosomy 9p syndrome. We have previously noted that some cases of 46,XY gonadal dysgenesis carry a 9p deletion and exhibit behavioural problems consistent with autistic spectrum disorder. These cases had a small terminal deletion of 9p with limited or no somatic anomalies that are characteristic of the monosomy 9p syndrome. Here, we present a new case of 46,XY partial gonadal dysgenesis and autistic spectrum disorder associated with a de novo deletion of 9p24 that was detected by ultra-high resolution oligo microarray comparative genomic hybridization. The deletion included the candidate sex-determining genes in the region DMRT1 and DMRT3. These data suggest that a gene responsible for autistic spectrum disorder is located within 9p24. It remains to be determined if the gonadal dysgenesis and autistic spectrum disorder are caused by a single gene or if they are caused by distinct genetic entities at 9p24.

The long-term followup of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery.

PURPOSE: Little is known about long-term outcomes of conservative gonadal surgery in true hermaphroditism. We present our experience with evaluation and treatment of a large series of children with this rare form of ambiguous genitalia, focusing on gonadal structure and function before and after conservative gonadal surgery. MATERIALS AND METHODS: We retrospectively reviewed 33 consecutive patients with histologically confirmed true hermaphroditism treated at the Hopital des Enfants-Malades between 1965 and 2005. RESULTS: The most common karyotype of true hermaphrodites was 46,XX, constituting 82% of our series. The frequency of finding the SRY gene in 46,XX cases was 35%. Ovotestis was the most frequent finding (65%) and testis the rarest (9%). Ovarian tissue was more often found on the left side, and testicular tissue on the right side (p <0.05). Proper gonadal tissue was preserved in 28 cases. No gonadal tumors were detected during followup. Ovarian tissue remained normal, while testicular tissue gradually developed signs of dysgenesis in all biopsied cases, confirmed by endocrinological studies. However, testosterone production remained satisfactory in the majority of cases during followup. CONCLUSIONS: Diagnosis of true hermaphroditism is well defined and the condition can be recognized even prenatally. Conservative gonadal surgery is the procedure of choice after a diagnosis of true hermaphroditism. Continued followup is necessary because of the multiple psychological, gynecological and urological problems encountered postpubertally by these patients.

Antenatal isolated hydronephrosis associated with urinoma.

Two cases of prenatally identified urinoma associated with an isolated hydronephrosis are presented, and the pathophysiology and prognosis of this rare condition are discussed. The presence in utero of a peri-renal collection associated with an isolated hydronephrosis seems to be a sign of significant renal dysplasia. These urinomas disappear spontaneously, thus drainage is not necessary, except in the case of compression of surrounding structures. The functional prognosis of these kidneys seems to be most unfavourable.

Quality of life and continence in patients with spina bifida.

PURPOSE: Spina bifida (SB) is the most common congenital cause of incontinence in childhood. This study attempts to determine the relationships between urinary/faecal incontinence, methods of management, and Health Related Quality of Life (HRQoL) in people with SB. PATIENTS AND METHOD: A total of 460 patients (300 adults and 160 adolescents) from six centres in France have taken part in this cross-sectional study. Clinical outcome measures included walking ability, urinary/faecal continence, and medical management. HRQoL was assessed using the SF36 in adults and the VSP in adolescents and their parents. Univariate and multivariate analysis was used to determine the relationships between clinical parameters and HRQoL. RESULTS: HRQoL were significantly lower than in the general population. Adult women had significantly lower scores than men, and adolescent females had significantly lower scores for psychological well being. We did not found strong relationship between incontinence and HRQoL in this population. Moreover patients surgically managed for urinary/fecal incontinence did not show significantly higher scores of HRQoL. CONCLUSION: Using generic HRQoL measures, urinary/faecal incontinence and their medical management may not play a determinant role in HRQoL of persons with SB. However many other factors affect HRQoL in these patients. A longitudinal study design is recommended to assess whether incontinence management is associated with improved HRQoL.

Long-term effects of dextranomer endoscopic injections for the treatment of urinary incontinence: an update of a prospective study of 61 patients.

PURPOSE: To treat sphincteric deficiency in children endoscopic bladder neck injections may avoid or salvage more complex procedures. A prospective study to assess the efficacy of bladder neck injections of dextranomer based implants (Deflux(R)) was done in a 7-year period in 61 patients. MATERIALS AND METHODS: From September 1997 to September 2004 we enrolled in the study 41 males and 20 females 5 to 18 years old with severe sphincteric incompetence, including exstrophy-epispadias in 26, neuropathic bladder in 27, bilateral ectopic ureters in 5, and miscellaneous in 3. Preoperative evaluation consisted of medical history, urine culture, urinary tract ultrasound and videourodynamics. This evaluation was repeated 6 months and 1 year after treatment, and yearly thereafter. Of the patients 17 underwent 2 and 4 underwent 3 treatment sessions to achieve a definitive result. At each evaluation the case was considered cured-a dryness interval of 4 hours between voids or CIC, significantly improved-minimal incontinence requiring no more than 1 pad daily and no further treatment required, and treatment failure-no significant, long lasting improvement. Videourodynamics were mainly useful to study the evolution of bladder capacity, activity and compliance. Followup after the last injection was 6 to 84 months (mean 28). RESULTS: Mean injected volume per session was 3.9 cc (range 1.6 to 12). Postoperative complications were temporary dysuria in 2 patients nonfebrile urinary tract infection in 10, orchid-epididymitis in 1 and urinary retention with pyelonephritis in 1. The incidence of dryness or improvement during followup was 79% (48 of 61 patients) at 1 month, 56% (31 of 55) at 6 months, 52% (24 of 46) at 1 year, 51% (18 of 35) at 2 years, 52% (16 of 31) at 3 years, 48% (12 of 25) at 4 years, 43% (9 of 21) at 5 years, 36% (4 of 11) at 6 years and 40% (2 of 5) at 7 years. The success rate according to pathological condition was similar in cases of neuropathic bladder and the exstrophy-epispadias complex (48% and 53%, respectively). The success rate in re-treated cases was 38%. After treatment a contracted bladder developed in 6 patients. Also, of the 35 patients with at least 2 years of followup an increase in capacity of at least 50% was observed in 12 of 18 with an initially small bladder. No side effects related to the substance were observed. CONCLUSIONS: Endoscopic treatment for pediatric severe sphincteric deficiency with dextranomer implant, a nontoxic, nonimmunogenic, nonmigratory synthetic substance, was effective up to 2 years in half of the patients. Subsequently at up to 7 years of followup a slow decrease in efficacy was observed and treatment remained beneficial in 40% of the patients.

Long-term effects of dextranomer endoscopic injections for treatment of urinary incontinence: an update of a prospective study of 31 patients.

PURPOSE: A prospective study was initiated 7 years previously to assess the efficacy of endoscopic dextranomer based implants for pediatric structural incontinence. Preliminary results revealed that at 3 years 50% of the patients were either dry or significantly improved. We report long-term results in the same cohort of patients. MATERIALS AND METHODS: A total of 33 children and adolescents 5 to 18 years old with severe incontinence due to sphincteric incompetence (exstrophy-epispadias complex in 13, neuropathic bladder in 16, bilateral ectopic ureter in 4) were enrolled. Of the patients 13 underwent 2 and 4 underwent 3 treatment sessions to achieve a definitive result. Mean injected volume was 3.9 ml (range 1.6 to 12) per session. At each evaluation patients were considered cured (dryness interval 4 hours), significantly improved (minimal incontinence requiring no more than 1 pad daily and no further treatment required) or treatment failures (no significant improvement). Videourodynamics were used to study the evolution of the bladder capacity, activity and compliance. A total of 31 patients were followed 3 to 7 years after the last injection. RESULTS: At 3 years after treatment 15 of 30 patients (50%) were dry or improved. One patient who had leakage after 3 years of dryness due to bladder deterioration subsequently underwent ileocystoplasty. At 4 years 12 of 25 patients (48%) were dry or improved. At 5 years 9 of 21 patients (43%) were dry, as were 4 of 11 (36%) at 6 years and 2 of 5 (40%) at 7 years of followup. The success rate according to pathological evaluation was comparable in neuropathic bladders (7 of 14, or 50%), exstrophy (3 of 6, or 50%) and epispadias (3 of 7, or 43%). Of 12 patients who underwent bladder neck plasty before the injection of bulking agent 7 (58%) were either dry or improved. The success rate was higher in males (13 of 23, or 57%) than in females (3 of 8, or 38%). Also, at puberty 2 males who were improved became dry. Bladder capacity increased in 12 of 18 initially small bladders and remained normal and stable in 9, while 4 initially dry patients had development of recurrent leakage secondary to bladder deterioration and underwent augmentation. Otherwise, there were no long-term side effects observed related to the injection of the bulking agent. CONCLUSIONS: Endoscopic treatment of severe organic urinary incontinence with dextranomer is durable for up to 7 years of followup in 40% of the patients.

Control of an ACC-1-producing Klebsiella pneumoniae outbreak in a physical medicine and rehabilitation unit.

This article describes an outbreak of ACC-1-producing Klebsiella pneumoniae involving 40 patients. These were mainly men under 40 years old with a spinal cord injury, in a physical medicine and rehabilitation unit. The main risk factors were prolonged hospital stay, multiple-bed rooms, tracheostomy care and assisted defaecation. The outbreak was only controlled after the introduction of rigorous patient placement (i.e. single rooms or cohorting in the same room), while allowing the patients to have free access to the various technical services (e.g. physiotherapy and occupational therapy) and living spaces necessary for re-education.

A multicenter evaluation of urinary incontinence management and outcome in spina bifida.

PURPOSE: We describe urinary continence management and outcome in patients with spina bifida to identify the procedures that are most successful. MATERIALS AND METHODS: In a multicenter retrospective cohort study medical charts were studied. At the same time in a cross-sectional survey sociodemographic characteristics, orthopedic features and urinary continence were described based on the frequency of leakage from the viewpoint of patients or close relatives using a Likert scale of 5 items, namely 1-leakage permanent to 5-leakage never. RESULTS: A total of 421 patients were included, of whom 191 (45%) had been medically treated with a normal voiding pattern according to the patient viewpoint in 21%, clean intermittent catheterization in 61% and no specific bladder emptying method in 18%. The mean leakage score +/- SD was 2.74 +/- 1.55. On the other hand, 230 patients (55%) were surgically treated. Except for 23 patients who underwent noncontinent urinary diversion 207 were considered for treatment and continence description. The mean leakage score was 3.45 +/- 1.60. An artificial urinary sphincter in male and females, and a sling or Kropp technique in females were satisfactory when bladder enlargement was not required. In cases of bladder augmentation without continent diversion an artificial urinary sphincter in males and a bladder neck sling or cinch, Kropp and Young-Dees procedures in females have provided the best results. In cases of bladder enlargement with continent urinary diversion bladder neck closure or a wrap have provided the best results whatever the patient sex. CONCLUSIONS: Many factors may influence the choice of a technique, such as patient sex, bladder characteristics or orthopedic conditions. However, since to our knowledge no randomized, controlled study has been yet performed, definitive conclusions on the best way to achieve urinary continence in patients with spina bifida cannot be established.

A multicentre study of the management of disorders of defecation in patients with spina bifida.

Patients with spinal dysraphism may have severe constipation and faecal incontinence. The impact of antegrade colonic enema (ACE) in the management of patients with spina bifida (SB) is analysed. In a multicentre cross-sectional study, constipation, faecal incontinence and faecal management were described. Cases surgically treated were identified. Data were collected from 423 patients, of whom 230 did not use any manoeuvre or laxatives to assist evacuation. Conventional treatment was used in 193 patients, including digital extraction in 39%, retrograde enema in 21% and oral laxatives in 52%. For intractable constipation and overflow of faecal incontinence, 47 patients were treated with ACE, of whom 41 used the method at a mean time of interview of 4.1 +/- 1.9 years after ACE operation; six abandoned ACE for conventional management. With ACE, faecal continence was significantly improved compared with conventional management, and neither retrograde rectal enema nor digital extraction were required. The conduit was fashioned to the right colon in 32 cases and to the left colon in nine cases. This study provides information on a multicentre experience in bowel management in SB patients. Whatever the technique used, ACE has improved faecal status compared with conventional therapy.

Idiopathic male pseudohermaphroditism: variations in presentation and management.

UNLABELLED: Male pseudohermaphroditism (MPH) is the abnormal development of genitalia in an individual with a 46,XY chromosome complement and testicular tissue. The etiology of MPH is unknown in most cases, which are defined as idiopathic. OBJECTIVE: To analyze the data for cases of idiopathic MPH. PATIENTS AND METHODS: A retrospective study of 29 patients with idiopathic MPH and no uterus. RESULTS: Four patients had a family history of abnormal sexual development and five had low birth weight. The initial manifestations were sexual ambiguity (26), microphallus and hypospadias (2), and primary amenorrhea (1). Basal and/or stimulated testosterone concentrations showed insufficient testosterone secretion in three patients. Genitography showed a vagina in 13 patients. Male genitoplasties were performed on 21 out of the 24 patients reared as males and female genitoplasties on five patients. Histological studies of the gonads of these showed streak gonads in one, normal gonads in one and signs of testicular dysgenesis in three others. Molecular studies on the SRY gene (17) showed no mutation. CONCLUSIONS: Idiopathic male pseudohermaphroditism is a heterogeneous condition, even within families with a history of this condition. We propose a set of guidelines for the management of these patients.

[Routine screening of antibiotic-resistant bacteria in acute rehabilitation units]. / Intérêt du dépistage actif des bactéries multirésistantes dans les services de médecine physique et réadaptation.

OBJECTIVES: The objective of this study was to evaluate the epidemiology of antibiotic-resistant bacteria among motor impaired patients admitted to an acute rehabilitation unit. METHODS: From January 2000 to December 2002, the acute rehabilitation units of R. Poincare Hospital have screened patients for methicillin-resistant Staphylococcus aureus (MRSA) and extended-spectrum beta-lactamase enterobacteria (ESBL-EB) carriage by nasal and rectal swab at admission, every month and exit. RESULTS: Finally, MRSA was isolated form screening or diagnosis samples of 360 patients and ESBL-EB from screening or diagnosis samples of 170 patients, corresponding respectively to an incidence of 3.6 for 1000 days of hospitalization (DH) and 1.7 for 1000 DH. 66% (236/360) of MRSA carriers and 58% of ESBL-EB carriers were identified only by screening samples. Carriage origin was identified for year 2002: Cases were imported for 40% (26/65) of MRSA carriers and 43% (18/42) of ESBL-EB carriers. The median acquisition delays were of 31 days [3-154] for MRSA and 19 days [3-317] for ESBL-EB. CONCLUSION: This allowed to set up contact precautions for more than 2 fold patients that would have allowed diagnosis samples alone.