Autologous adipocyte graft in endoscopic treatment of vesico-renal reflux in children: a preliminary study

No bulking agent is ideal for endoscopically treating vesico-renal reflux in children. Many teams have tried to find a safe and efficient material, ideally an autologous material. We describe here a protocol for the use of autologous viable fat in the treatment of primary vesico-renal reflux in children aged from 3 to 15 years. Fat harvesting was done from the medial side of the thigh by manual aspiration. Samples were centrifuged to purify the graft from blood and lipid. Lastly fat was injected beneath the pathologic ureter by a conventional endoscopic technique. A voiding cystourethrography (VCUG) closed the procedure. Follow-up included renal ultrasonography the day after surgery, and one and three months later. A VCUG was performed systematically at three months and, in cases of acute pyelonephritis, during the survey

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Background In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. Methods We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents. Clinicians filled in a structured questionnaire on genetic and clinical findings to enable correlations between genotype and phenotype. Clinical photographs and specialist reports were gathered. Parents were interviewed to complement the written questionnaires. Results We report on the detailed clinical characterization of a large cohort of individuals with an ADNP mutation and demonstrate a distinctive combination of clinical features, including mild to severe intellectual disability, autism, severe speech and motor delay, and common facial characteristics. Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common comorbidities. Strikingly, individuals with the recurrent p.Tyr719* mutation were more severely affected. Conclusions This overview defines the full clinical spectrum of individuals with ADNP mutations, a specific autism subtype. We show that individuals with mutations in ADNP have many overlapping clinical features that are distinctive from those of other autism and/or intellectual disability syndromes. In addition, our data show preliminary evidence of a correlation between genotype and phenotype.This work was supported by grants from the European Research Area Networks Network of European Funding for Neuroscience Research through the Research Foundation–Flanders and the Chief Scientist Office–Ministry of Health (to RFK, GV, IG). This research was supported, in part, by grants from the Simons Foundation Autism Research Initiative (Grant No. SFARI 303241 to EEE) and National Institutes of Health (Grant No. R01MH101221 to EEE). This work was also supported by the Italian Ministry of Health and ‘5 per mille’ funding (to CR). For many individuals, sequencing was provided by research initiatives like the Care4Rare Research Consortium in Canada or the Deciphering Developmental Disorders (DDD) study in the UK. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (Grant No. HICF-1009–003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (Grant No. WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South Research Ethics Committee, and GEN/284/12 granted by the Republic of Ireland Research Ethics Committee). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network

The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design

Abstract Background Posterior urethral valves (PUV) account for 17% of paediatric end-stage renal disease. A major issue in the management of PUV is prenatal prediction of postnatal renal function. Fetal ultrasound and fetal urine biochemistry are currently employed for this prediction, but clearly lack precision. We previously developed a fetal urine peptide signature that predicted in utero with high precision postnatal renal function in fetuses with PUV. We describe here the objectives and design of the prospective international multicentre ANTENATAL (multicentre validation of a fetal urine peptidome-based classifier to predict postnatal renal function in posterior urethral valves) study, set up to validate this fetal urine peptide signature. Methods Participants will be PUV pregnancies enrolled from 2017 to 2021 and followed up until 2023 in >30 European centres endorsed and supported by European reference networks for rare urological disorders (ERN eUROGEN) and rare kidney diseases (ERN ERKNet). The endpoint will be renal/patient survival at 2 years postnatally. Assuming α = 0.05, 1–β = 0.8 and a mean prevalence of severe renal outcome in PUV individuals of 0.35, 400 patients need to be enrolled to validate the previously reported sensitivity and specificity of the peptide signature. Results In this largest multicentre study of antenatally detected PUV, we anticipate bringing a novel tool to the clinic. Based on urinary peptides and potentially amended in the future with additional omics traits, this tool will be able to precisely quantify postnatal renal survival in PUV pregnancies. The main limitation of the employed approach is the need for specialized equipment. Conclusions Accurate risk assessment in the prenatal period should strongly improve the management of fetuses with PUV

Intérêt de la radiographie de l'abdomen sans préparation dans le diagnostic des douleurs abdominales aigües chez l'enfant (à propos de 166 clichés.)

STRASBOURG-Medecine (674822101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Le reflux vésico-urétéral de l'enfant (étude rétrospective à propos de 72 cas.)

STRASBOURG-Medecine (674822101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Syndrome appendiculaire chez l'enfant et hospitalisation (évaluation d'un score dans une étude prospective.)

STRASBOURG-Medecine (674822101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

La rate baladeuse (A propos d'un cas chez un enfant de cinq ans)

STRASBOURG-Medecine (674822101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Laparoscopic pyeloplasty for repair of pelviureteric junction obstruction in children

Purpose: The aim of this study was to report our initial experience with laparoscopic pyeloplasty (LP) in children with pelviureteric junction (PUJ) obstruction and describe the evolution and evaluate the results. Materials and Methods: We retrospectively reviewed the records of 32 consecutive infants and children with unilateral ureteropelvic junction obstruction and deterioration of renal function on isotope renography, who underwent LP (19 on the right, 13 on the left) between May 2003 and January 2007. Twenty-three were males and 9 females. The mean age was 7.7 years old (range, 2 months to 17 years); the patient was placed in a three quarter lateral position and three ports were used. The PUJ was resected and the anastomosis was made by using absorbable sutures. A JJ stent was inserted by laparoscopy in most patients. Follow-up included clinical and ultrasound assessment, followed by isotopic renography at 6 months. Results: LP was feasible in 29 of 32 patients (91). The procedure could not be completed by laparoscopy in 3 patients; the main reason was difficulty in completing the anastomosis. Only 1 patient with a big redundant renal pelvis underwent a reduction. Stent insertion was successful in all, except 1 patient. An aberrant crossing vessel was found in 12 patients. We held up the aberrant crossing vessel and PUJ with two- or three-point - not absorbable - sutures, without the needed pyeloplasty in 2 of them. The other 10 underwent a LP enabled ureteric transposition. Three patients presented with postoperative complications: pyelonephritis in 2 patients and PUJ leakage in 1 who underwent nephrostomy with a further uneventful course. Mean operative time was 152 minutes (range, 120-270), and average hospital stay was 4.7 days (range, 1-8). In 1 patient, cystoscopy showed that the JJ stent was not in the bladder at the time of removal, and ureteroscopy was used to retrieve it. Mean follow-up was 22 months (range, 2-56). A total of 29 patients (91) were asymptomatic after removal of the double JJ stent, showing a reduction of the degree of hydronephrosis in all patients, and had also improved PUJ drainage on isotope renography or sonography. Conclusions: LP is effective and safe in children with minimal morbidity and gives excellent short-term results. The feasibility is also excellent in patients younger than 1 year. The transabdominal approach revealed good exposition without disadvantages for the patient. © 2009 Mary Ann Liebert, Inc. 2009

Cecostomy button for antegrade enemas: survey of 29 patients

Objective: This study evaluated the Trap-door button use (Cook Medical, Bloomington, IL) for antegrade enemas in children. Methods: Since 2002, patients with fecal incontinence or encopresis and constipation underwent percutaneous cecostomy under laparoscopy using a button. Technical details are described. Age at surgery, operative time, hospital stay, diagnosis, indications for cecostomy, and duration of follow-up were recorded. A survey was proposed via a questionnaire that was sent to the patients. Patients wearing the button for less than 1 month were excluded from this evaluation. The survey concerned volume and frequency of enemas, difficulties encountered, benefits and disadvantages of this method, and assessment of the antegrade enemas in continence. Results: Twenty-nine patients, 18 males and 11 females, aged 3 to 21 years (mean, 8.5 years) underwent laparoscopic Trap-door button placement. The indications for all the patients were intractable fecal incontinence in 24 cases and constipation with encopresis in 5 cases. Incontinence was because of myelomeningocele (n = 10), anorectal malformations (n = 11), caudal regression syndrome (n = 1), 22q11 syndrome (n= 1), and Hirschsprung disease with encephalopathy with convulsions (n = 1). Constipation with encopresis was because of sacrococcygeal teratoma (n = 1), cerebral palsy (n = 1), and acquired megarectum with psychiatric and social disorders (n = 3). A total of 26 cecostomy button placements and 3 sigmoidostomy button placements were successful with no intraoperative complication. The mean operative time was 25 minutes (10-40 minutes), and the hospital stay was 2.5 days (1-4 days). Twenty-two parents or patients answered the questionnaire. At the time of this survey, 2 patients had improved their fecal continence and had had the button removed. A mean of 4 weekly enemas was enough to improve fecal continence troubles (range, 1 daily to 1 for 2 weeks). The volume for enemas was 250 to 1000 mL (mean, 700 mL). The time required for the irrigation of the bowel by gravity took from 5 to 60 minutes (mean, 25 minutes) for 20 patients. Before surgery, 14 patients needed a diaper, day and night, and 6 needed sanitary protection. Soiling was a very significant inconvenience for all the patients. After surgery, only 5 patients needed a diaper (cerebral palsy, 22q11, cloacal malformation, myelomeningocele, bladder exstrophy) because of moderate results or urinary incontinence and continued soiling. Patients were asked to give an assessment (null = 0, bad = 1, fair = 2, good = 3, very good = 4). None of the patients felt there had been no changes or a bad result. There were 5 patients who felt they had an average result, 5 a good result, and 12 a very good result. The mean grade was 3.44 (17.2/20). A total of 3 patients had hypertrophic granulation tissue formation around the cecostomy button, and 12 had tiny leakage. Conclusion: Percutaneous placement of a cecostomy button under laparoscopic control is an easy and major complication-free procedure. The use of the Trap-door device by the patients or with the help of the parents for antegrade enemas is effective and satisfactory. It improves the quality of life and is reversible. © 2008