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International audience; Polytetrafluoroethylene (PTFE) is a ubiquitous material used for implants and medical devices in general because of its high biocompatibility and inertness: blood vessel, heart, table jawbone, nose, eyes, or abdominal wall can benefit from its properties in case of disease or injury. Its expanded version, ePTFE is an improved version of PTFE with better mechanical properties, which extends its medical applications. A material as frequently used as ePTFE with these exceptional properties deserves a review of its main uses, developments, and possibility of improvements. In this systematic review, we examined clinical trials related to ePTFE-based medical devices from the literature. Then, we excluded all trials using ePTFE as a control to test other devices. ePTFE-coated stents, hemodialysis and bypass grafts, guided bone and tissue regeneration membranes, hernia and heart repair and other devices are reviewed. The rates of success using these devices and their efficiency compared to other materials used for the same purposes are reported. ePTFE appears to be more or just as efficient compared to them. Some success rates remain low, suggesting the need of improvement ePTFE for medical applications.

International audience; Managing the risks arising from the actions and conditions of the various elements that make up an operating room is a major concern during a surgical procedure. One of the main challenges is to define alert thresholds in a non-deterministic context where unpredictable adverse events occur. In response to this problematic, this paper presents an architecture that couples a Multi-Agent System (MAS) with Case-Based Reasoning (CBR). The possibility of emulating a large number of situations thanks to MAS, combined with analytical data management thanks to CBR, is an original and efficient way of determining thresholds that are not defined a priori. We also compared different similarity calculation methods ( retrieve phase of CBR). The results presented in this article show that our model can manage alert thresholds in an environment that manages data as disparate as infectious agents, patient's vitals and human fatigue. In addition, they reveal that the thresholds proposed by the system are more efficient than the predefined ones. These results tend to prove that our simulator is an effective alert generator. Nevertheless, the context remains a simulation mode that we would like to enrich with real data from, for example, monitoring sensors (bracelet for human fatigue, monitoring, etc).

Summary Introduction Wilms’ tumor (WT) is the most common type of malignant kidney tumor in children. Three-dimensional reconstructions can be performed pre-operatively to help surgeons in the planning phase. Objectives The main objective of this study was to determine the variability of WT segmentation and 3D reconstruction. The secondary objectives were to assess the usefulness of these 3D reconstructions in the surgical planning phase and in the selection of patients for nephron-sparing surgery (NSS). Methods 14 scans from 12 patients were manually or semi-automatically segmented by 2 teams using 3D Slicer software. Inter-individual variability of 3D reconstructions was measured based on the Dice index. The utility of 3D reconstructions for the surgical planning was evaluated by 4 pediatric surgeons using a 5-point Likert scale. The possibility of undertaking NSS was evaluated according to the criteria defined in the Umbrella SIOP-RTSG 2016 protocol. Results Segmentation of the WT, healthy kidney, pathological kidney, arterial and venous vascularization could be performed for all of the patients in this study. Urinary cavities segmentation could only be performed for 5 out of 14 scans that had a delayed acquisition phase. The mean time required to carry out these segmentations was 8.6 h [3–15 h]. The mean Dice index for all of the scans was good (mean: 0.87; range [0.83–0.91]). Considering each anatomical structure, the Dice index was very good for the WT (mean: 0.95; range [0.91–0.97]) and the healthy kidney (mean: 0.95; range [0.93–0.96]), good for the pathological kidney (mean: 0.87; range [0.69–0.96]) and arterial vascularization (mean: 0.84; range [0.74–0.91]). The Dice index was lower than 0.8 for venous vascularization only (mean: 0.77; range [0.58–0.86]). All the surgeons who were interviewed agreed that the 3D reconstructions were realistic representations and useful for the surgical planning phase. The images reconstructed in 3D allowed most of the criteria defined by the Umbrella SIOP-RTSG 2016 protocol to be evaluated regarding the selection of patients who could benefit from NSS. Download : Download high-res image (316KB) Download : Download full-size image Summary Figure . Segmentation of kidneys (A) and vessels (C) using a thresholding method. Segmentation of the renal tumor (B) using a contouring method. A merge of the different segmentations (D). 3D reconstruction of segmented structures (E). Conclusion The inter-individual variability of 3D reconstructions of WT is acceptable. Three-dimensional representation appears to assist surgeons with the surgical planning phase by allowing them to better anticipate the operative risks. 3D reconstructions can also be an additional tool to better select patients for NSS. However, the manual or semi-automatic method used is very time-consuming, making it difficult for a routinely use. Developing techniques to automate this segmentation process, therefore, appears to be essential if surgeons and radiologists are to use it in daily practice.

Managing risks related to the actions and conditions of the various elements that make up an operating room is a major concern during surgery. Determining alert thresholds is one of the main challenges. In this document, we propose to focus on the causes that lead to incidents as well as their prediction, which are essential elements in the determination of alerts. For that purpose, we have designed an architecture that couples a Multi-Agent System (MAS) with Case-Based Reasoning (CBR). The ability to emulate a large number of situations thanks to MAS, combined with analytical data management thanks to CBR is an efficient way of analyzing the state of the system and predicting its evolution. Beyond this architecture, decision support tools have been integrated in order to classify the behavior of entities and predict their evolution. This paper presents and analyzes the performance of our original cluster-based method (similVar) dedicated to the determination of unpredefined alert thresholds and risk prediction in surgery rooms. The obtained results prove the ability of our approach to analyze and predict the evolution of variables as disparate as the constants of a patient (“CAPNIA”, “HYPOTHERMIA”, “FeCO2”, “SpO2” etc.) or human fatigue.

The original version of this article unfortunately contained a mistake. The presentation and legends of Figs. 4 and 5 were incorrect. The corrected versions are given below. The original article has been corrected.

International audience; Objective: To identify predictors of and factors associated with the performance of antireflux surgery during the first year of life in children born with esophageal atresia.Study design: All patients were included in a French registry for esophageal atresia. All 38 multidisciplinary French centers completed questionnaires about perinatal characteristics and one-year outcome for children born with esophageal atresia.Results: Of 835 infants with esophageal atresia born in France from 2010 to 2014, 682 patients, excluding those with long-gap esophageal atresia, were included. Three patients had type I, 669 had type III, and 10 had type IV esophageal atresia. Fifty-three children (7.8%) received fundoplication during the first year of life. The median age at the time of the end-to-end esophageal anastomosis was 1.1 day (range 0-15). Multivariate analysis identified three perioperative factors that predicted the need for early antireflux surgery: anastomotic tension (P = .004), associated malformations (P = .019), and low birth weight (P = .018). Six other factors, measured during the first year of life, were associated with the need for antireflux surgery: gastroesophageal reflux (P < .001), anastomotic stricture (P < .001), gastrostomy (P < .001), acute life-threatening event (P = .002), respiratory complications (P = .045), and poor nutritional status (P < .001).Conclusions: Gastroesophageal reflux disease, low birth weight, poor nutrition, and surgical anastomosis difficulties predicted the performance of antireflux surgery in the first year of life in infants with esophageal atresia.

Introduction Long-gap esophageal atresia (LGEA) leads to multifactorial morbidity. The aim of this study is to analyze midterm gastrointestinal and respiratory morbidities with special assessment of feeding difficulties. Secondary goals were to determine risk factors of malnutrition and the impact of surgical techniques on morbidity. Methods We conducted a prospective observational national study. Using French national database, we reviewed medical charts of every patient treated for LGEA between 2008 and 2010 in France. Phone contact was proposed to assess orality disorders using Functional Oral Intake Scale (FOIS). Patients with complete data were included. We compared conservative management with esophageal replacement. Results We included 31 cases with a median age of follow-up of 9 years [7–10]. Median z-score for weight was −0.97 [−3.52–2.50], Conclusion Midterm morbidity in LGEA concerns 80% of our population. Gastrointestinal morbidity includes mainly dysphagia, GER, and orality disorders. This study suggests that conservative management provides more orality disorders. Other studies are mandatory to confirm it.

Objectives and Study The aim of our study is to assess the risk factor of mortality and morbidity in a large population-based registry in a population of type III/C esophageal atresia (EA). Methods Under the umbrella of the national plan for rare disease, a population based register was set up in 2008 recording the data of all the live newborns with EA in France. Based on the registry data, survival and morbidity at 1 year were studied. Morbidity was approached by calculating the rate of full oral autonomy and the hospital length of stay during the first year. Multivariate analysis was performed via multinomial logistic regression to evaluate independent predictors of overall survival and morbidity items among all significant category variables identified on univariate analysis. Results A total of 1008 patients with type III EA were extracted from the national database born from January first 2008 till 31 December 2014. Mean birth weight was 2610 g (2060 to 3075). Right lateral thoracotomy was used in 93% of cases and primary anastomosis was possible in 95% of cases. Associated abnormalities were present in 53% of patients, VACTERL in 19%, and CHARGE syndrome in 3%. Mortality at 3 months was at 5% and at one year at 6% and was correlated to prenatal diagnosis (odd ratio (OR):2.96 (1.08 to 8.08)), low birth weight (OR: 0.52 (0.38 to 0.72)), and heart defect (OR: 6.09 (1.96 to 18.89)). Length of hospitalization was correlated to birth weight (OR: 0.83 (0.61–1.13)), the difficulty of the anastomosis (OR: 1.59 (0.71–3.55)) and associated abnormalities (OR: 1.93(0.65–5.68)), the prenatal diagnosis is correlated only to the rate of full oral autonomy and not with the length of hospitalization. Conclusions Surgical procedure or difficulties did not seem to affect survival in this group of patients. In addition to the continuous need to improve care of low weight neonates, our results clearly identify that efforts should be focused on the small group of EA with prenatal diagnosis and/or severe cardiac malformation to reduce even more mortality and morbidity in EA patients.

Objectives and study Anastomotic stricture (AS) is a frequent complication of the surgery for œsophageal atresia (OA) during the first year of life. The primary objective of this study was to evaluate the prevalence of AS before 1 year old in infants with type A and C OA who were operated on. Secondary objectives were to determine risk factors for AS in OA, for recurrent and refractory AS, and to establish if AS is associated with antireflux surgery. Methods A prospective national multicentric study was conducted including all infants born with OA between 2008 and 2015. Patients deceased before one year old, OA types B and E, and patients for whom data about AS were missing were excluded from the study. Data were collected at birth and at 12 months of age. Anastomosis under tension was defined by the surgeon and a delayed anastomosis was defined by an anastomosis after 15 days of life. Recurrent stricture was defined by the need of ≥3 dilations and refractory stricture was defined by the need of ≥5 dilations. Univariate and multivariate statistical analyses were conducted. Results Of the 1258 eligible patients (84%), 1054 were included in the study from 38 centers. The prevalence of AS in the first year of life was 23.3% [20.7–28.9]. Anastomosis under tension (AUT) and delayed anastomosis (DA) were found to be independent risk factors for AS (respectively 2.5 [1.73–3.45] and 3.7 [1.95–7.2] (OR [CL 95%])) in the total population. Neither sex, birth weight, prematurity, intrauterine growth retardation, associated malformations, type A OA, nor the type of surgical approach was a risk factor for AS. In type C OA, DA was the only risk factor for AS (OR: 3.1 [1.65–5.86]). The group with AS had 2.5-fold more fundoplication compared to the patients without AS (P = 0.0005) in the total population and in type C OA. AUT and DA were found to be independent risk factors for recurrent stricture (OR: 2.4 [1.47–3.9] and 4.7 [2.2–10.4], respectively) and DA was the only risk factor for refractory stricture (OR: 6.23 [2.4–16.2]). Conclusion Surgical factors at the time of first repair of OA are the only risk factors for AS.

Polytetrafluoroethylene (PTFE) is a ubiquitous material used in implants and medical devices in general due to its high biocompatibility and inertness; blood vessels, heart, jawbone, nose, eyes, or abdominal wall can benefit from its properties in the case of disease or injury. Its expanded version, ePTFE, is an improved version of PTFE with better mechanical properties, which extend its medical applications. However, ePTFE implants often lack improvement in properties such as antibacterial, antistenosis, or tissue integration properties. Improvements in these properties by several strategies of functionalization for medical purposes are discussed in this review. Covalent and non-covalent bonding are reviewed, including more specifically chemical impregnation, chemical surface modification, autologous vascularization, and cell seeding, which are strategies mainly used for improving the properties of ePTFE and are described in this review.

Previous clinical studies have shown the effectiveness of bone repair using two-stage surgery called the induced membrane (IM) technique. The optimal wait before the second surgery is said to be 1 month. We have been successfully performing the IM technique while waiting an average of 6 months to carry out the second stage. We hypothesised that the IM maintains its beneficial capabilities, even at a later second stage, and that there is no relation between the speed of bone union and the wait between the first and second stage. We sought to explore the biological properties of ‘older’ IMs sampled to substantiate our clinical observations. Thirty-four patients with a critical size defect were treated with the IM technique. In seven of these patients, pieces of the IM were collected 4.2–14.7 months after the first surgery. IM-derived cell phenotype and osteogenic potential were investigated using in vitro studies (n = 4) while IM nature and function were investigated by histology and immunohistochemistry (n = 3). The median wait before the second surgery was 5.8 months [range 1.2–14.7] and bone healing occurred at 7.6 months [range 2.5–49.9] for 26 patients. IMs aged 4.2–14.7 months contained mesenchymal stromal cells with in vitro osteogenic potential and corresponded to a multipotent tissue with osteogenic and chondrogenic capabilities contributing to osteogenesis over time. This preliminary study suggests the IM retains its powerful osteogenic properties over time and that waiting longer between the two surgeries does not delay bone union.

We report on the case of two digestive malformations in dizygotic/dichorionic/diamniotic twins born at 31 weeks of gestation. The mother (gravida 1 para 0) was treated by hydroxychloroquine for systemic lupus erythematosus during pregnancy. Twin A presented an arch-like dilatation on antenatal ultrasounds, characteristic of segmental volvulus. After birth, twin B presented repeated vomiting on feeding, leading us to diagnose ileal atresia despite normal antenatal ultrasounds. Both twins underwent surgery and the postoperative period was uneventful. After 1 year of follow-up, the twins are in excellent health without digestive sequelae. Genetic testing for cystic fibrosis was negative. The placenta showed diffuse signs of hypoxia and ischaemia, indicating that the root cause was vascular. The pathophysiology of intestinal atresia is hypothesised to derive from a vascular incident during fetal development. We are therefore led to believe that an intrauterine vascular event is the most likely cause of the dual malformation.

International audience; INTRODUCTION: Thoracotomy as surgical approach for esophageal atresia treatment entails the risk of deformation of the rib cage and consequently secondary thoracogenic scoliosis. The aim of our study was to assess these thoracic wall anomalies on a large national cohort and search for factors influencing this morbidity.MATERIALS AND METHODS: Pediatric surgery departments from our national network were asked to send recent thoracic X-ray and operative reports for patients born between 2008 and 2010 with esophageal atresia. The X-rays were read in a double-blind manner to detect costal and vertebral anomalies.RESULTS: Among 322 inclusions from 32 centers, 110 (34.2%) X-rays were normal and 25 (7.7%) displayed thoracic malformations, including 14 hemivertebrae. We found 187 (58.1%) sequelae of surgery, including 85 costal hypoplasia, 47 other types of costal anomalies, 46 intercostal space anomalies, 21 costal fusions and 12 scoliosis, with some patients suffering from several lesions. The rate of patients with these sequelae was not influenced by age at intervention, weight at birth, type of atresia, number of thoracotomy or size of the center. The rate of sequelae was higher following a classical thoracotomy (59.1%), whatever the way that thoracotomy was performed, compared to nonconverted thoracoscopy (22.2%; p=0.04).CONCLUSION: About 60 % of the patients suffered from a thoracic wall morbidity caused by the thoracotomy performed as part of surgical treatment of esophageal atresia. Minimally invasive techniques reduced thoracic wall morbidity. Further studies should be carried out to assess the potential benefit of minimally invasive approaches to patient pulmonary functions and on the occurrence of thoracogenic scoliosis in adulthood.LEVELS OF EVIDENCE: Level III retrospective comparative treatment study.

Resume Objectifs Le volvulus du grele est une cause rare d’occlusion prenatale. Les objectifs de notre travail etaient d’evaluer le pronostic du volvulus prenatal du grele. Patients et methodes Nous avons mene une etude retrospective sur les volvulus prenatals operes entre mai 2004 et mai 2010. Les volvulus avec ou sans cause identifiable et dont la survenue prenatale ne faisait aucun doute ont ete inclus. Les elements diagnostiques, les donnees neonatales, le bilan lesionnel peroperatoire, la conduite therapeutique et l’evolution ont ete analyses. Resultats Dix cas ont ete identifies. Un diagnostic prenatal de dilatation intestinale ou de peritonite meconiale avait ete porte dans 3 cas sans signe specifique de volvulus. Il s’agissait d’un volvulus primitif dans 5 cas. Pour les 5 autres, il existait une cause : une breche mesenterique isolee, 2 atresies intestinales primitives, un mesentere etroit et une malrotation. Un nouveau-ne avec volvulus total du grele sur malrotation est decede. Les 9 autres enfants ont survecu. Le delai median d’autonomie digestive a ete de 29 j (6–667 j). La majorite des patients enfants avaient un etat nutritionnel normal a 3 et 12 mois. A l’issu d’un suivi median de 16 mois, aucun des enfants vivants n’avait de sequelle digestive ou neurologique. Conclusion Malgre une grande gravite a court terme en cas de volvulus total sur malrotation, nos resultats suggerent que le pronostic a long terme des volvulus prenatals est bon.

Resume But Etudier l’efficacite et la morbidite de la voie lombaire posterieure (VLP) horizontale dans les nephro-ureterectomies polaires (NUP) pour duplication pyelo-ureterale chez le nourrisson. Materiel et methodes Trente-trois NUP pour duplication pyelo-ureterale ont ete realisees par VLP chez 31nourrissons, âges de 6.7 ± 5.5 mois (1-26) entre Janvier 1994 et Decembre 2005. Resultats La duree operatoire moyenne etait de 121 ± 35 minutes (60-19). Il n’y a pas eu de complication per-operatoire. Les pertes sanguines etaient minimales dans tous les cas ( Conclusion La VLP horizontale a ete une technique sure et reproductible, offrant un benefice esthetique par rapport a la voie classique antero-laterale. Elle peut representer une voie d’abord privilegiee dans la chirurgie ouverte des NUP pour duplication pyelo-ureterale chez le nourrisson, dans une tranche d’âge pour laquelle la videochirurgie reste encore peu evaluee.

International audience; OBJECTIVE: Evaluate neonatal management and outcome of neonates with either a prenatal or a post-natal diagnosis of EA type III.STUDY DESIGN: Population-based study using data from the French National Register for EA from 2008to 2010. We compared children with prenatal versus post-natal diagnosis in regards to prenatal, maternal and neonatal characteristics. We define a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and mortality at 1year.RESULTS: Four hundred and eight live births with EA type III were recorded with a prenatal diagnosis rate of 18.1%. Transfer after birth was lower in prenatal subset (32.4% versus 81.5%, PCONCLUSION: Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity related to the EA type (longer gap). Even if it does not modify neonatal management and 1-year outcome, prenatal diagnosis allows antenatal parental counseling and avoids post-natal transfer.; ObjectifÉvaluer l’impact du diagnostic anténatal sur la prise en charge néonatale et le devenir à 1an des nouveaux-nés suivis pour atrésie de l’œsophage (AO) de type III.Matériel et méthodesÉtude de population issue du registre national des atrésies de l’œsophage avec inclusion de tous les cas d’AO de type III entre 2008et 2010. Deux groupes ont été constitués: les cas ayant bénéficié d’un dépistage anténatal et ceux dont l’atrésie de l’œsophage a été découverte à la naissance. Une variable composite de morbidité (lâchage de suture, fuite de l’anastomose, sténose œsophagienne) et de mortalité à 1an a été définie.RésultatsQuatre cent huit cas d’atrésie de l’œsophage de type 3ont été inclus avec un taux de dépistage anténatal de 18,1%. Le taux de transfert après la naissance était plus faible dans le groupe DAN (32,4% versus 81,5%, pConclusionLes cas diagnostiqués en anténatal ont une morbidité plus élevée liée au type d’atrésie de l’œsophage (défects plus longs). Même si le diagnostic anténatal ne modifie pas la prise en charge néonatale et la survie à 1an, il permet une information des parents et une préparation de la naissance dans un centre de néonatologie adapté.

International audience; OBJECTIVE: Our study aimed at (1) evaluating neonatal treatment and outcome of neonates with either a prenatal or a postnatal diagnosis of esophageal atresia (EA) and (2) analyzing the impact of prenatal diagnosis on outcome based on the type of EA.STUDY DESIGN: We conducted a population-based study using data from the French National Register for infants with EA born from 2008-2010. We compared prenatal, maternal, and neonatal characteristics among children with prenatal vs postnatal diagnosis and EA types I and III. We defined a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and death at 1 year.RESULTS: Four hundred sixty-nine live births with EA were recorded with a prenatal diagnosis rate of 24.3%; 82.2% of EA type I were diagnosed prenatally compared with 17.9% of EA type III (P < .001). Transfer after birth was lower in case of prenatal diagnosis (25.6% vs 82.5%; P < .001). The delay between birth and first intervention did not differ significantly among groups. The defect size was longer among the prenatal diagnosis group (2.61 vs 1.48 cm; P < .001). The composite variables were higher in prenatal diagnosis subset (44% vs 27.6%; P = .003) and in EA type I than in type III (58.1% vs 28.3%; P < .001).CONCLUSION: Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity rate related to the EA type (type I and/or long gap). Even though it does not modify neonatal treatment and the 1-year outcome, prenatal diagnosis allows antenatal parental counselling and avoids postnatal transfers.

Background The aim of the present national prospective population-based study was to assess the early morbidity of esophageal atresia (EA). Methods All 38 multidisciplinary French centers that care for patients with EA returned a specific questionnaire about the 1-year outcome for each patient. This information was centralized, checked, and entered into a database. Results From the total population of 307 EA patients born in 2008 and 2009, data about the 1-year outcome were obtained from 301 (98%) patients, of whom 4% were lost to follow-up and 5% died. Medical complications occurred in 34% of the patients: anastomotic leaks (8%), recurrent tracheoesophageal fistula (4%), and anastomotic stenosis (22%); all of the latter group needed dilation (median, 2 dilations/patient). A new hospitalization was required for 59% of patients (2.5 hospitalizations/patient) for digestive (52%) or respiratory (48%) reasons. Twelve percent of patients required antireflux surgery at a median age of 164 days (range, 33–398 days), and 1% underwent an aortopexy for severe tracheomalacia. The weight/age Z-score was −0.8 (range, −5.5 to 3.7 months) at 12 months. Fifteen percent of patients were undernourished at 12 months of age, whereas 37% presented with respiratory symptoms and 15% had dysphagia at the last follow-up. Significant independent factors associated with medical complications were anastomotic esophageal tension (p = .0009) and presence of a gastrostomy (p = .0002); exclusive oral feeding at discharge was associated with a decreased risk of complications (p = .007). Conclusions Digestive and respiratory morbidities remain frequent during the first year of life and are associated with difficult anastomosis and lack of full oral feeding. Electronic supplementary material The online version of this article (doi:10.1186/s13023-014-0206-5) contains supplementary material, which is available to authorized users.

Background Congenital esophageal stenosis (CES) is a rare condition frequently associated with esophageal atresia (EA). There are limited data from small series about the presentation, treatment, and outcomes of CES. Methods Medical records of all patients with CES included in the French Network on Esophageal Malformations and Congenital Diseases were reviewed retrospectively with regard to diagnosis, treatment, and outcome. Results Over 18 years, 61 patients (30 boys) had CES, and 29 (47%) of these patients also had EA. The mean age at diagnosis was 24 months (1 day to 14 years) and was younger in patients with CES and EA than in those with isolated CES (7 vs. 126 months, p Conclusions CS diagnosis can be delayed when associated with EA. Dilation may be effective for treating patients with FMS and MS, but surgical repair is often required for those with TBR. Our results show clearly that, regardless of the therapeutic option, dysphagia occurs frequently, and patients with CES should be followed over the long term.

OBJECTIVE: Our study aimed at (1) evaluating neonatal treatment and outcome of neonates with either a prenatal or a postnatal diagnosis of esophageal atresia (EA) and (2) analyzing the impact of prenatal diagnosis on outcome based on the type of EA. STUDY DESIGN: We conducted a population-based study using data from the French National Register for infants with EA born from 2008-2010. We compared prenatal, maternal, and neonatal characteristics among children with prenatal vs postnatal diagnosis and EA types I and III. We defined a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and death at 1 year. RESULTS: Four hundred sixty-nine live births with EA were recorded with a prenatal diagnosis rate of 24.3%; 82.2% of EA type I were diagnosed prenatally compared with 17.9% of EA type III (P CONCLUSION: Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity rate related to the EA type (type I and/or long gap). Even though it does not modify neonatal treatment and the 1-year outcome, prenatal diagnosis allows antenatal parental counselling and avoids postnatal transfers.

Nephrotic patients are at risk of developing venous and arterial thrombotic complications. Pulmonary embolism due to affected deep leg veins is by far the most common event. Renal or cerebral vein thromboses have been described. Thrombosis of arterial vessels is less frequent. Mesenteric infarction is a rare but severe complication in patients with nephrotic syndrome (NS). We report a 7-year-old boy with a steroid-dependent (SD) NS and a homozygous mutation of methylenetetrahydrofolate reductase, increasing the risk of thromboembolic events. He developed a thrombosis of his superior mesenteric artery during his ninth relapse, which was responsible for a necrosis of 240 cm of his small bowel, necessitating resection of necrotic parts and double external ostomy diversion. Remission was achieved with pulse prednisolone therapy. Corticoids were reduced over 4 months progressively. Oral cyclosporin A (CyA) was initiated for long-term treatment. Due to a short bowel syndrome with severe malabsorption, even oral administration of 22.5 mg/kg per day CyA did not lead to sufficient plasma levels. Intravenous cyclophosphamide pulse therapy over 6 months led to a complete remission. No relapse occurred over a period of more than 5 months after the last cyclophosphamide pulse. Anticoagulation and screening for increased susceptibility for thrombotic events are necessary in every nephrotic patient. Intravenous cyclophosphamide pulse therapy is a useful alternative in SDNS with impaired intestinal absorption of applied immunosuppressive drugs.

International audience; PURPOSE: A prospective national register was established in 2008 to record all new cases of live-birth newborns with esophageal atresia (EA). This epidemiological survey was recommended as part of a national rare diseases plan.METHODS: All 38 national centers treating EA participated by completing for each patient at first discharge a questionnaire validated by a national committee of experts. Data were centralized by the national reference center for esophageal anomalies. Quantitative and qualitative analyses were performed, with P-values of less than 0.05 considered statistically significant. Results of the 2008-2009 data collection are presented in this report.RESULTS: Three hundred seven new living cases of EA were recorded between January 1, 2008, and December 31, 2009. The male/female sex ratio was 1.3, and the live-birth prevalence of EA was 1.8 per 10,000 births. Major characteristics were comparable to those reported in the literature. Survival was 95%, and no correlation with caseload was noted.CONCLUSIONS: Epidemiologic surveys of congenital anomalies such as EA, which is a rare disease, provide valuable data for public health authorities and fulfill one important mission of reference centers. When compared with previous epidemiological data, this national population-based registry suggests that the incidence of EA remains stable.

We report a case of a sacrococcygeal teratoma (SCT) diagnosed at 22 weeks with a substantial intrapelvic cystic extension leading to bladder outlet obstruction and hydronephrosis at 27 weeks. Prenatal percutaneous shunting of the cystic teratoma was performed at 28 weeks to avoid prolonged fetal pelvic compression by the tumour that could have adverse effects by stretching the pelvic plexus and sacral nerves. Urinary dilatation resolved completely after shunting and a 3880 g baby girl was delivered at 39 weeks. The potential benefits of in utero shunting to avoid urological complications of SCTs with intrapelvic extension are discussed.

Objectives To evaluate the frequency of ovarian torsion in neonates with ovarian cysts (OCs) and to analyze the outcome after surgical treatment. Methods A retrospective review of all infants with OCs managed in our institution during 20 years, was conducted. Our management included a follow-up (FU) of prenatal serial ultrasound (US) scan without prenatal cyst aspiration and early postnatal US scan. Neonatal surgery was indicated for cysts that appeared complex regardless of size and for simple cysts larger than 20 mm. Results Sixty-seven OCs detected through prenatal diagnosis were identified. Cysts were detected at a median gestational age (GA) of 33 weeks. At diagnosis, median size of the OCs was 40 mm, and 18% were complex. On the postnatal US scan, 55% were complex. Neonatal surgery was performed for 64 OCs : 56% were torsed, 6% were hemorrhagic, and 38% were uncomplicated. Proportions of complex- and simple-appearing cysts on prenatal or postnatal US scan were the only significantly different parameters found between infants with torsed or not torsed OC. Conclusion Our study demonstrated that OC bears a high risk of ovarian loss. These findings have implications regarding information and treatment offered to pregnant women bearing an affected fetus. Copyright © 2008 John Wiley & Sons, Ltd.

To study the safety and effectiveness of heminephroureterectomy by horizontal lumbar posterior approach for duplicated systems in infants.Thirty-three heminephroureterectomies by lumbar posterior approach were performed in 31 infants at a mean age of 6.7 +/- 5.5 months (range: 1 to 26 months) from January 1994 to December 2005.The mean operative time was 121 +/- 35 minutes (range: 60 to 190 minutes). No intra-operative complication was observed. Blood loss was minimal (20 ml) in all cases. The mean hospital stay was 4.6 days (range: 2 to 7 days). No postoperative complication (urinoma, infection or haemotoma) occurred. No atrophy or major functional loss of the remaining moiety was observed. The mean follow-up was 52.6 +/- 40 months (range: 1 to 151 months).The lumbar posterior approach is safe and reproducible and provides an obvious cosmetic benefit in comparison to the standard anterolateral lumbotomy. It represents a procedure of choice for open heminephroureterectomy in infants.

The current report describes the case of an 11-year-old girl with Down syndrome who was admitted because of sudden abdominal pain and vomiting. Her symptoms were secondary to severe gastric volvulus associated with congenital diaphragmatic hernia.

The study of the gonads of 8 cases of Drash syndrome (6 ambiguous males, 2 females) and of 2 Frasier syndrome shows that WT1 mutations gives a dysgenetic testis which is the cause of the genital ambiguity observed at birth. By contrast the same mutations have no effect on ovary development giving normal females. However intron mutations in KTS with isoforms imbalance of WT1 proteins cause streak gonads with a female phenotype in XY patients. In consequence WT1 mutations are the cause of a spectrum of male genital malformations associated with glomerulonephritis and tumors. The absence of WT1 protein detection in sertoli cells shown by immunohistochemistry for 3 cases suggests an imprinting effect of the normal WT1 allele promotor rather than a low level of protein production. A caryotype is mandatory for a correct diagnosis.

The objective of this retrospective study was to assess the value of one-stage testicular descent without spermatic vessel ligation for intraabdominal impalpable testis.This study was based on 90 children with 98 impalpable testes. Laparoscopic exploration was performed in each case. Forty-three testes were intra-abdominal and 55 were absent. One-stage surgical descent with vertical opening of the conjoined tendon and without spermatic vessel ligation was performed for 22 testes and two-stage descent (Fowler-Stephens two-stage technique) was performed for 16 testes. Three testes in bilateral forms are still waiting for treatment.With a mean follow-up of 17 months (range: 1 month to 8 years), 18 of the 22 testes (81%) were situated in the scrotum and were viable in the one-stage treatment group, versus 10 out of 16 (62.5%) in the two-stage group. Two poor results, including one case of necrosis, were observed after one-stage testicular descent. Six poor results, including two cases of necrosis, were observed after the Fowler-Stephens two-stage technique.One-stage testicular descent, without spermatic vessel ligation, after laparoscopic assessment of the presence and position of the testis, can be performed in the majority of cases of impalpable testis. The risks of failure due to secondary atrophy or incomplete testicular descent are minimal with this technique. One-stage surgical descent, when possible, appears to be preferable to the Fowler-Stephens two-stage procedure.

A small omphalocele was diagnosed and followed up prenatally. Ultrasonography examinations and clinical examination at birth were all consistent with an isolated, small omphalocele. Immediate surgical exploration at birth found an associated type I intestinal atresia. This rare association and the need for immediate postnatal management of omphalocele are discussed, and the literature is reviewed.

La mortalite liee a la hernie de coupole diaphragmatique (HCD) est souvent secondaire aux consequences de l’hypertension arterielle pulmonaire persistante et de l’hypoplasie pulmonaire. En France, les resultats de l’utilisation de l’oxygenation extra corporelle sur oxygenateur a membrane (ECMO) pour ces patients ont rarement ete rapportes, et le benefice est controverse. Il s’agit d’une analyse retrospective de 31 patients avec HCD et ayant necessite un recours a l’ECMO pour une evaluation a court terme de la morbidite et de la mortalite dans notre etablissement entre 2007 et 2012. La mortalite precoce a ete evaluee a 61%, le plus souvent par arret cardiaque hypoxemique. Le diagnostic prenatal avait ete realise pour 25 cas. Six patients dont 3 survivants avaient une hernie droite. Quinze cas ont ete operes sous ECMO. L’intervention a ete realisee a J2 du debut du traitement pour 8 cas dont 4 survivants. Vingt-trois patients ont eu une prothese dont 10 survivants. La morbidite etait evaluee a 58% au niveau pulmonaire, 45% au niveau neurologique et 26% au niveau digestif. Malgre une hypoxemie refractaire aux techniques de ventilations conventionnelles, le recours a l’ECMO nous semble ameliorer la survie dans ce groupe a risques malgre une morbidite precoce importante.

Introduction l’incidence de l’atresie de l’œsophage (AO) est mal connue et varie entre 1/2500 a 1/4600 naissances. Le but de ce travail est de presenter les donnees 2008 du registre national de l’AO (metropole plus DOM TOM). Methodes des fiches d’inclusion ont ete remplies par tous les centres prenant en charge une AO et saisies et analysees par le centre de reference. Les DIM de chaque centre ont ete contactes ainsi que 4 registres regionaux de malformations pour augmenter le nombre et l’exhaustivite des sources. Resultats 142 nouveaux cas ont ete declares pour l’annee 2008 (incidence = 1/5824 naissances). Il existait une predominance de garcons ( n = 83), le poids de naissance moyen etait de 2527 g avec un terme de 37 SA. Un diagnostic antenatal etait possible dans 17 % des cas. Il y avait 15 atresies de type I et 123 de type III. Le diagnostic etait pose dans les 24h dans 89 % des cas et la chirurgie initiale realisee avant 48h dans 94 % pour le type III. Le taux des malformations associees etait de 53 % et la mortalite globale de 5 %. Conclusions Ces premiers resultats montrent une incidence de l’AO similaire a celle observee par le registre Europeen des malformations. Le diagnostic antenatal reste rare mais la prise en charge dans notre pays est precoce et la mortalite faible.