Infantile hepatic hemangioma (IHH) and mesenchymal hamartoma (MH) form the first and second most common benign hepatic tumors in children. In this case report, we present a newborn child in whom a growing hepatic mass was discovered at the age of 7 days. She suffered also from anemia, respiratory and renal failure. No signs of heart disease or cutaneous lesions were detected. Alpha-fetoprotein was elevated for her age (3562.2 ng/ml). Imaging studies showed multifocal large cystic lesions associated with heterogeneous small solid lesions with arterial enhancement of the liver. Non-anatomical liver resection was performed initially and synchronous MH and IHH GLUT-1 positive were discovered in the pathological analysis. Segmental IV hepatic resection and later on selective cysts excision were done for persistent hepatic lesion despite medical treatment. After 14 months of beta-blockers treatment, clinical follow-up shows a healthy child with no residual cystic lesions.

Synovial sarcoma (SS) is a rare high-grade malignant mesenchymal tumor affecting children, adolescents, and young adults. Cytogenetically, more than 90% of SS is characterized by the t (X;18)(p11.2;q11.2), translocation resulting in two chimeric fusion genes SYT-SSX1 and SYT-SSX2, confirming histological diagnosis. Pediatric SS arises most often in soft tissues of the extremities (66% of cases), and is a localized tumor without spreading to regional lymph nodes (96% of cases) nor to metastatic sites (94% of cases). Although clinical and radiologic presentation, histologic analysis and tumor biology appear similar in pediatric and adolescent SS, outcome seems better in children than in adolescents, respectively 84% vs 60% of 5 years overall survival (OS). If complete resection is the gold standard in SS, other therapeutic modalities differ between pediatric and adult populations, considering SS as an intermediate chemosensitive tumor more frequently by pediatric oncologists. Prognostic factors evaluation (tumor size, site of primary and IRS group) is necessary to establish optimal treatment strategies, with multimodal therapeutic approach in children and adolescents. Thus, recent results about the European prospective EpSSG NRSTS 05 study for children and adolescent patients with localized SS showed a 5 years OS > 90%. Moreover, recent somatic genetic data about SS open the debate on an appropriate strategy based and stratified on tumor genomic. Multinational prospective pediatric, adolescent and young adult study is necessary to improve optimal and appropriate approach in this rare tumor.

Patients under 5 years were not evaluated in the phase-3 study for enzyme replacement therapy (ERT) in MPS IV A. Here we describe the evolution of a severe Morquio A pediatric patient who was diagnosed at 19 months old and treated by ERT at 21 months old for the next 30 months.Applying the standard ERT protocol on this very young patient appeared to reduce his urinary excretion of glycosaminoglycans (GAGs); the improvements in both the 6 minute-walk test (6MWT) and the stair climb test, however, were no different than those reported in the nature history study. Additionally, this young patient experienced many ERT-associated side effects, and as a result a specific corticosteroid protocol (1 mg/kg of betamethasone the day before and 1 h before the ERT infusion) was given to avoid adverse events. Under these treatments, the height of this patient increased during the first year of the ERT although no more height gain was observed thereafter for 18 months. However, despite of ERT, his bone deformities (including severe pectus carinatum) actually worsened and his medullar cervical spine compression showed no improvement (thus needed decompression surgery).Conclusion: early ERT treatment did not improve the bone outcome in this severe MPS IV A patient after the 30 months-long treatment. A longer term follow up is required to further assess the efficacy of ERT on both the motor and the respiratory function of the patient. (C) 2016 The Authors. Published by Elsevier Inc.

Visual attention of young children with autism spectrum disorder (ASD) has been well documented in the literature for the past 20 years. In this study, we developed a Decision Support System (DSS) that uses machine learning (ML) techniques to identify young children with ASD from typically developing (TD) children. Study participants included 26 to 36 months old young children with ASD (n = 61) and TD children (n = 72). The results showed that the proposed DSS achieved up to 87.5% success rate in the early assessment of ASD in young children. Findings suggested that visual attention is a unique, promising biomarker for early assessment of ASD. Study results were discussed, and suggestions for future research were provided.

Depuis la supplémentation en vitamine D recommandée chez le nourrisson, le rachitisme carentiel a quasiment disparu des pays développés. Les causes génétiques occupent depuis lors une place beaucoup plus importante dans l'étiologie du rachitisme. En 1994, Casella et al. décrivent deux patients suspects de rachitisme pseudo-carentiel présentant des taux faibles de 25-hydroxyvitamine D sans carence ; il faudra attendre dix ans pour que Chang et al. identifient chez ces patients une mutation du gène codant pour la 25-hydroxylase (CYP2R1). Nous rapportons deux familles avec déficit en activité 25-hydroxylase repérées sur les déformations osseuses et la symptomatologie musculaire (hypotonie et fatigabilité). Sous traitement par Dédrogyl®, l'ensemble des symptômes cliniques et biologiques s'est corrigé pour les enfants âgés de moins de 3 ans, alors qu'une chirurgie correctrice du genu valgum sera nécessaire pour les deux enfants plus grand, et ce malgré la normalisation du statut phosphocalcique. La confirmation diagnostique a été apportée par l'étude du gène CPY2R1. L'efficacité du traitement substitutif d'un cout modeste, souligne l'intérêt du diagnostic moléculaire précis de ces pathologies rares dont le diagnostic reste souvent méconnu.

L'arthroplastie totale de hanche assistée par ordinateur repose notamment sur l'utilisation du plan pelvien antérieur (PPA) comme référentiel. EOS est une nouvelle méthode qui permet une analyse tridimensionnelle du bassin en position de fonction avec une faible dose d'irradiation. Le but de cette étude était d'analyser la fiabilité du PPA pour l'implantation de la cupule d'une prothèse totale de hanche (PTH) assistée par ordinateur par EOS. Le PPA présente une fiabilité limitée pour l'implantation de la cupule lors d'une PTH assistée par ordinateur. Il s'agit d'une étude prospective monocentrique sur 44 patients basée sur une imagerie EOS en position debout 3 mois après une PTH assistée par ordinateur (Orthopilot). La reproductibilité des mesures EOS réalisée sur le logiciel SterEOS et la fiabilité des données de la navigation sur le positionnement de la cupule étaient analysées. La reproductibilité intra- et inter-observateur des mesures de l'orientation de la cupule par EOS était bonne avec des coefficients de corrélation supérieurs à 93 % et des intervalles de confiance à 95 % inférieur à ± 5°. L'inclinaison et l'antéversion acétabulaire étaient respectivement en moyenne de 41,3° en per-opératoire et de 44,3° en postopératoire et 20,9° en per-opératoire et 29,5° en postopératoire. Ces différences entre les données d'orientation de la cupule en per-opératoire par la navigation et les mesures postopératoire par EOS étaient significatives (p < 0,05) avec un coefficient de corrélation inférieur à 40 %. Notre étude confirme le manque de précision du PPA pour positionner l'implant acétabulaire, surtout pour son antéversion. Longtemps confondu au repère global, il est soumis en réalité à d'importantes variations inter-individuelles et lors des changements de position. Associées aux difficultés de sa détermination en per-opératoire, ces facteurs expliquent le manque de fiabilité du PPA. L'appréciation préopératoire par EOS de l'orientation du PPA et leur intégration dans la navigation pourrait aider l'opérateur positionner ces implants. Étude prospective diagnostique cas témoin niveau III.

Introduction: Computer navigated total hip arthroplasty is mostly based on the use of the anterior pelvic plane (APP) as a reference. EOS is a new imaging system that provides three-dimensional analysis of the pelvis in a functional position with a low dose of radiation. The aim of this study was to evaluate the reliability of the APP for placement of the cup during computer navigated THA using EOS.Hypothesis: The reliability of the APP is limited for the placement of the acetabular cup during computer navigated THA.Materials and methods: This was a prospective monocentric study using the EOS imaging system evaluating 44 patients in the standing position three months after computer navigated THA (Orthopilot (TM)). Reproducibility of EOS measurements were analyzed using SterEOS software and the reliability of the navigation data for the position of the cup were assessed.Results: Intra and interobserver reproducibility of the measurements of the orientation of the cup by EOS were good with correlation coefficients above 93% and 95% and confidence intervals of less than perpendicular to 5 degrees. Mean cup inclination and anteversion were 41.3 degrees and 20.9 degrees and 44.3 degrees and 29.5 degrees respectively in operatively and post-operatively. The differences between measurements of operative cup inclination using computer assisted navigation and the post-operative EOS measurements were significant (13< 0.05) with a correlation coefficient of less than 40%.Discussion: Our study confirms the lack of precision of the APP as a reference for positioning of the acetabular component, especially in relation to anteversion. Although for many years the APP was considered to be a global reference, in fact, it is subject to significant inter-individual variations and variations during changes in position. These factors, associated with the difficulty of determining the preoperative APP, explain the lack of reliability of this reference. Preoperative evaluation of the orientation of APP by EOS and its integration into the navigation system could help the operator position these components.Level of evidence: Level III Prospective diagnostic case controlled study. (C) 2014 Elsevier Masson SAS. All rights reserved.

Introduction: Children affected by obstetric brachial plexus palsy have an internal rotation contracture of the shoulder and a deformed glenohumeral joint. In 2003, Pearl proposed doing an arthroscopic release of the shoulder to restore external rotation and allow the glenohumeral joint to remodel. The goal of the current study was to evaluate the active and passive shoulder external rotation range of motion and glenohumeral joint remodelling in children treated with arthroscopic-directed release.Materials and methods: Between 2004 and 2010, 18 children with passive external rotation under 10 degrees were treated with shoulder arthroscopy to release the anterior capsule and ligaments and perform a subscapularis tenotomy; no tendon transfer was performed. The average age was 4 years, 2 months. Nine children had an injury at C5C6, four had an injury at C5C6C7 and five had a complete injury. The average follow-up was 4.5 years. The clinical evaluation consisted of active and passive external rotation (ER) with elbow at the side, active internal rotation, and the modified Mallet score. One child who required an external rotation osteotomy of the proximal humerus was excluded from the clinical outcomes. An MRI was performed on both shoulders to assess glenoid retroversion, glenoid type, degree of posterior subluxation (measured by the percentage of humeral head anterior to the middle glenoid fossa) and humeral head hypoplasia.Results: At the latest follow-up, passive ER was 58 degrees on average and active ER was 42 degrees. Eleven children had regained more than 30 degrees of active ER. The average internal rotation had decreased after the release. The MRI assessment showed that the glenohumeral joint had remodelled in 66% of cases; the glenoid type had improved, the glenoid retroversion had diminished and the humeral head was recentred. Humeral head hypoplasia was found in 28% of cases.Discussion and conclusion: Arthroscopic release of the shoulder results in more external rotation and allows for glenohumeral joint remodelling. Tendon transfer is not always necessary to restore active external rotation.

Les enfants victimes de paralysie obstétricale du plexus brachial présentent une raideur de l’épaule en rotation interne et une déformation glénohumérale. En 2003, Pearl a proposé l’arthrolyse de l’épaule par voie arthroscopique afin de restaurer une rotation externe et permettre un remodelage glénohuméral. Le but de cette étude est d’évaluer la rotation externe passive et active ainsi que le remodelage glénohuméral de l’épaule chez les enfants ayant eu une arthrolyse arthroscopique. Entre 2004 et 2010, 18 enfants ont eu une arthroscopie de l’épaule avec arthrolyse capsuloligamentaire antérieure et ténotomie du subscapularis, sans transfert tendineux lorsque la rotation externe passive était inférieure à 10°. L’âge moyen était de quatre ans et deux mois. Neuf enfants avaient une atteinte C5C6, quatre avaient une atteinte C5C6C7, et cinq enfants présentaient une atteinte complète. Ils ont été revus avec un recul moyen de quatre ans et demi. L’évaluation clinique comportait : la mesure de la rotation externe coude au corps (RE) passive et active, la rotation interne active, le score de Mallet modifié. Un enfant, ayant subit une dérotation humérale, a été exclu des résultats cliniques. Une IRM des deux épaules a été réalisée avec analyse de la rétroversion de la glène, du type de glène, du degré de subluxation postérieure par le percentage of the humeral head anterior (PHHA) et de l’hypoplasie de la tête humérale. Au plus long recul, la RE était en moyenne de 58° en passif et de 42° en actif. Onze enfants avaient retrouvé une RE active supérieure à 30°. La rotation interne moyenne post arthrolyse était diminuée. Sur l’analyse IRM, on notait un remodelage glénohuméral dans 66 % des cas avec amélioration du type de glène, diminution de la rétroversion glénoïdienne et recentrage de la tête humérale. Une hypoplasie de la tête humérale était retrouvée dans 28 % des cas. L’arthrolyse arthroscopique de l’épaule permet une libération de la rotation externe en même temps qu’un remodelage glénohuméral. Son association à un transfert musculaire pour réanimer une rotation externe active n’est pas systématique. IV étude rétrospective.

Introduction: There are several possible options to treat focal articular cartilage defects of the knee. The aim of this study was to evaluate the results and prognostic factors cartilage defects of the knee treated by autologous osteochondral mosaicplasty after more than five years of follow-up.Patients and methods: One hundred forty-two cases were included in this retrospective multicenter study. Etiologies included osteochondral fractures (n = 79), and osteochondritis dissecans (n = 61). Mean age of patients was 31. There was a majority of men (76%). Mean BMI was 25 (range: 21-41). Fifty-three percent of the knees had a history of surgery. Mean delay between the accident and surgery was 2.5 years. Mean area of the defect was 2.29 cm(2) (range: 0.3-12.25 cm(2)). The depth of the defect was 3 or 4 on the ICRS score in 97% of cases. An additional surgical procedure was associated with mosaicplasty in 14% of the cases. The follow-up evaluation was based on the Hughston score, the ICRS score, the IKDC subjective score, and the IKDC radiological score. Evaluation of control MRI was based on a modified MOCART score. Results: The mean follow-up was 96 +/- 28 months. There were complications in 19 patients. Patients were able to begin athletic activities again after a mean 35 weeks. Most patients (81.8%) were satisfied or very satisfied. There was a significant improvement (p < 0.001) in the ICRS, IKDC function and Hughston scores at follow-up. The factors for a good prognosis were: male gender, medial femoral condyle defects, osteochondritis dissecans, deep, small defects, and the shortest possible delay to surgery. Obesity, smoking, work-related accidents, the level of sports practiced, the percentage of coverage of the defect, the number of plugs, and associated lesions did not have a statistically significant effect on the functional results in the final follow-up.Discussion: Autologous osteochondral mosaicplasty seems to be a reliable technique in the short and intermediate term. It has the advantage of being less expensive than reconstructive techniques, is a one-step surgical procedure and results in immediate restoration of cartilage surface. Nevertheless, this is a difficult technique, which may result in complications and requires articular harvesting. This technique is limited by the size of the defect to be treated. The primary indication is deep, small defects on the medial femoral condyle. Level of evidence: Level IV. Retrospective study. (C) 2011 Elsevier Masson SAS. All rights reserved.

As the anode materials for lithium ion batteries, manganese-based oxides draw great attention due to the abundant mineral reserves and high specific capacity. Nonetheless, severe volume expansion and structural collapse during the charging/discharging process hindered their commercial application. To solve these problems, the heterogeneous Mn2O3/Fe2O3 composite are designed in this study and structure influence on the lithium ion storage performance is studied. As anode material for lithium ion batteries, heterogeneous structured Mn2O3/Fe2O3 composites have a superior specific capacity (750 mAh·g−1 at 1 A g−1), excellent cycling stability (85.2% after 500 cycles), and outstanding rate capability (435 mAh g−1 at 2.0 A g−1). Additionally, this article also verified the feasibility of full lithium ion battery with heterostructure Mn2O3/Fe2O3 as anode and LiFePO4 as cathode, and the full battery display great performance. The results show that the heterogeneous structured Mn2O3/Fe2O3 plays a vital role in improving the electrochemical properties.

Plusieurs options sont envisageables pour traiter une lésion cartilagineuse focale du genou. Le but de ce travail était d'évaluer les résultats et les facteurs pronostiques du traitement des lésions cartilagineuses du genou traitées par greffes en mosaïque à plus de 5 ans de recul. Une étude rétrospective multicentrique a permis d'inclure 142 dossiers. Les étiologies étaient représentées par des fractures ostéochondrales (n = 79) et par des ostéochondrites disséquantes (n = 61). L'âge moyen était de 31 ans. Il existait une prépondérance d'homme (76 %). Le BMI moyen était de 25 (extrêmes : 21–41). On note que 53 % des genoux avaient des antécédents chirurgicaux. Le délai accident chirurgie fut en moyenne de 2,5 ans. La surface moyenne des lésions était de 2,29 cm2 (extrême : 0,3–12,25 cm2). Il s'agissait de lésion d'une profondeur International Cartilage Repair Society (ICRS) 3 ou 4 dans 97 %. Un autre geste chirurgical a été associé à la greffe en mosaïque dans 14 % des cas. L'analyse au recul a utilisé le score de Hughston, le score ICRS, le score International Knee Documentation Committee (IKDC) subjectif et le score IKDC radiologique. Les IRM de contrôle ont été analysées grâce à un score de Mocart modifié. Le recul moyen fut de 96 ± 28 mois. Des complications sont survenues dans 19 cas. Le délai moyen de reprise du sport fut de 35 semaines. Les patients satisfaits ou très satisfaits (81,8 %) furent largement majoritaires. Une amélioration des scores ICRS, IKDC fonctionnel et Hughston (p < 0,001) au recul furent constatés. Les facteurs de meilleur pronostic ont été : le sexe masculin, les lésions situées sur le condyle médial, les lésions d'ostéochondrite disséquante, les lésions profondes et de petites tailles et un délai opératoire le plus court possible. L'obésité, le tabagisme, les accidents de travail, le niveau sportif, le pourcentage de couverture, le nombre de plots, mais aussi les lésions associées n'ont pas influencé, de façon statistiquement significative, le résultat fonctionnel au recul. La greffe en mosaïque semble être une technique fiable à court et à plus long terme. Elle a l'avantage d'être moins onéreuse que les techniques reconstructives, réalisées en une seule étape chirurgicale et d'offrir une restauration immédiate de la surface cartilagineuse. Néanmoins, il s'agit d'une technique difficile, non dépourvue de complications qui nécessitent un prélèvement articulaire. La limite de la technique est représentée par la taille de la lésion à traiter. L'indication de choix est représentée par les lésions profondes et de petites tailles situées sur le condyle médial. Level IV. Étude rétrospective.

Incidental hepatic regenerating nodules rarely occur after haematopoietic SCT (HSCT). Focal nodular hyperplasia (FNH) is one of these unusual benign tumors with characteristic imaging features. To determine the incidence and the outcome of FNH of the liver and improve the understanding of its pathogenesis, we prospectively surveyed a total of 138 patients who had undergone serial prospective pre- and post-transplantation evaluations of iron biomarkers, including ferritin and liver iron concentration assessed by magnetic resonance imaging (MRI). Seventeen patients with a median delay of 6.4 years (2.2-13.6) developed FNH of the liver. All were children at the time of transplantation. MR images were typical for FNH in 16 patients; only one patient needed a confirmatory biopsy. Sixteen had received a myeloablative conditioning; six received a BU-based preparation and 10 TBI. Three patients experienced sinusoidal obstruction syndrome. Neither complication nor malignant transformation has been reported to date. FNH of the liver seems to be a frequent delayed benign complication following HSCT, probably of iatrogenic vascular origin. Basic clinical and diagnostic imaging follow-up is warranted.