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1. UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking

Author

Rémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, Fabienne Charbit-Henrion, Ophelie Nicolle, Céline Revenu de Courtils, Stephanie Waich, Taras Valovka, Anis Khiat, Marion Rabant, Caroline Racine, Ida Chiara Guerrera, Júlia Baptista, Maxime M. Mahe, Michael W. Hess, Béatrice Durel, Nathalie Lefort, Céline Banal, Mélanie Parisot, Cecile Talbotec, Florence Lacaille, Emmanuelle Ecochard-Dugelay, Arzu Meltem Demir, Georg F. Vogel, Laurence Faivre, Astor Rodrigues, Darren Fowler, Andreas R. Janecke, Thomas Müller, Lukas A. Huber, Fernando Rodrigues-Lima, Frank M. Ruemmele, Holm H. Uhlig, Filippo Del Bene, Grégoire Michaux, Nadine Cerf-Bensussan, and Marianna Parlato

Subjects
Gastroenterology, Medicine
Abstract

Variants in the UNC45A cochaperone have been recently associated with a syndrome combining diarrhea, cholestasis, deafness, and bone fragility. Yet the mechanism underlying intestinal failure in UNC45A deficiency remains unclear. Here, biallelic variants in UNC45A were identified by next-generation sequencing in 6 patients with congenital diarrhea. Corroborating in silico prediction, variants either abolished UNC45A expression or altered protein conformation. Myosin VB was identified by mass spectrometry as client of the UNC45A chaperone and was found misfolded in UNC45AKO Caco-2 cells. In keeping with impaired myosin VB function, UNC45AKO Caco-2 cells showed abnormal epithelial morphogenesis that was restored by full-length UNC45A, but not by mutant alleles. Patients and UNC45AKO 3D organoids displayed altered luminal development and microvillus inclusions, while 2D cultures revealed Rab11 and apical transporter mislocalization as well as sparse and disorganized microvilli. All those features resembled the subcellular abnormalities observed in duodenal biopsies from patients with microvillus inclusion disease. Finally, microvillus inclusions and shortened microvilli were evidenced in enterocytes from unc45a-deficient zebrafish. Taken together, our results provide evidence that UNC45A plays an essential role in epithelial morphogenesis through its cochaperone function of myosin VB and that UNC45A loss causes a variant of microvillus inclusion disease.

Published
2022
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2. Management of Central Venous Catheters in Children and Adults on Home Parenteral Nutrition: A French Survey of Current Practice

Author

Julien Gotchac, Florian Poullenot, Dominique Guimber, Emmanuelle Ecochard-Dugelay, Stéphane Schneider, Noël Peretti, Lore Billiauws, Corinne Borderon, Anne Breton, Emilie Chaillou Legault, Cécile Chambrier, Aurélie Comte, Marie-Edith Coste, Djamal Djeddi, Béatrice Dubern, Claire Dupont, Lucile Espeso, Philippe Fayemendy, Nicolas Flori, Ginette Fotsing, Swellen Gastineau, Olivier Goulet, Emeline Guiot, Adam Jirka, Jeanne Languepin, Sabrina Layec, Didier Quilliot, Laurent Rebouissoux, David Seguy, Isabelle Talon, Anne Turquet, Marjolaine Vallee, Stéphanie Willot, Thierry Lamireau, and Raphael Enaud

Subjects
chronic intestinal failure, venous thrombosis, central venous catheter thrombosis, catheter obstruction, Nutrition. Foods and food supply, TX341-641
Abstract

Although central venous catheter (CVC)-related thrombosis (CRT) is a severe complication of home parenteral nutrition (HPN), the amount and quality of data in the diagnosis and management of CRT remain low. We aimed to describe current practices regarding CVC management in French adult and pediatric HPN centers, with a focus on CVC obstruction and CRT. Current practices regarding CVC management in patients on HPN were collected by an online-based cross-sectional survey sent to expert physicians of French HPN centers. We compared these practices to published guidelines and searched for differences between pediatric and adult HPN centers’ practices. Finally, we examined the heterogeneity of practices in both pediatric and adult HPN centers. The survey was completed by 34 centers, including 21 pediatric and 13 adult centers. We found a considerable heterogeneity, especially in the responses of pediatric centers. On some points, the centers’ responses differed from the current guidelines. We also found significant differences between practices in adult and pediatric centers. We conclude that the management of CVC and CRT in patients on HPN is a serious and complex situation for which there is significant heterogeneity between HPN centers. These findings highlight the need for more well-designed clinical trials in this field.

Published
2022
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3. Impact of chest radiography for children with lower respiratory tract infection: a propensity score approach.

Author

Emmanuelle Ecochard-Dugelay, Muriel Beliah, Caroline Boisson, Francis Perreaux, Jocelyne de Laveaucoupet, Philippe Labrune, Ralph Epaud, Hubert Ducou-Lepointe, Jean Bouyer, and Vincent Gajdos

Subjects
Medicine, Science
Abstract

BACKGROUND: Management of acute respiratory tract infection varies substantially despite this being a condition frequently encountered in pediatric emergency departments. Previous studies have suggested that the use of antibiotics was higher when chest radiography was performed. However none of these analyses had considered the inherent indication bias of observational studies. OBJECTIVE: The aim of this work was to assess the relationship between performing chest radiography and prescribing antibiotics using a propensity score analysis to address the indication bias due to non-random radiography assignment. METHODS: We conducted a prospective study of 697 children younger than 2 years of age who presented during the winter months of 2006-2007 for suspicion of respiratory tract infection at the Pediatric Emergency Department of an urban general hospital in France (Paris suburb). We first determined the individual propensity score (probability of having a chest radiography according to baseline characteristics). Then we assessed the relation between radiography and antibiotic prescription using two methods: adjustment and matching on the propensity score. RESULTS: We found that performing a chest radiography lead to more frequent antibiotic prescription that may be expressed as OR = 2.3, CI [1.3-4.1], or as an increased use of antibiotics of 18.6% [0.08-0.29] in the group undergoing chest radiography. CONCLUSION: Chest radiography has a significant impact on the management of infants admitted for suspicion of respiratory tract infection in a pediatric emergency department and may lead to unnecessary administration of antibiotics.

Published
2014
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4. An acidosis not so basic

Author

Apolline Imbard, Alexis Mosca, Jean-François Benoist, Jean-Pierre Hugot, Emmanuelle Ecochard-Dugelay, and Bertrand Lefrère

Subjects
Short Bowel Syndrome, medicine.medical_specialty, Urinary system, Context (language use), Urine, Urinalysis, Gas Chromatography-Mass Spectrometry, Diagnosis, Differential, Internal medicine, medicine, Humans, Lactic Acid, Coma, Acidosis, Acid-Base Equilibrium, chemistry.chemical_classification, Metabolic acidosis, General Medicine, medicine.disease, Short bowel syndrome, Enzyme, Endocrinology, chemistry, Child, Preschool, Acidosis, Lactic, Female, medicine.symptom, Blood Chemical Analysis, Organic acid
Abstract

We present the case of a four-year-old girl, who was hospitalized in intensive care unit for a coma resulting from metabolic acidosis with increased anion gap. The patient was treated for short bowel syndrome, following necrotising enterocolitis, which occurred 51 days after birth. In our initial evaluation of the patient's metabolic acidosis, we were unable to identify the cause of the increased anion gap. Urinary organic acids chromatography identified a large peak of lactate (quantified at 15 mmol/mol of creatiniuria), as well as its metabolites. The discrepancy between normal blood lactate concentration assayed by enzymatic assay, and the large amount of lactate found by gas-chromatography/mass spectrometry (GC/MS) in urine highlights the limit of the stereospecificity of enzymatic assays. Indeed, most lactates assay use enzymatic assays that are specific for L-lactate, whereas organic acids chromatography, whose column is mostly achiral, can detect both stereoisomers, D- and L-lactate. Organic acids in urine analysis, in addition to the clinical context, suggested a diagnosis of D-lactic acidosis. Following a review of the physiopathology and treatment of short bowel syndrome, we will discuss the mechanism and diagnosis of the D-lactic acidosis in our patient. This case highlights the need to perform an organic acid profile in urine in the presence of any unexplained increased anion gap to determine its cause.

Published
2020

5. Pediatric Home Parenteral Nutrition in France: A six years national survey

Author

Marie-Edith Coste, Béatrice Dubern, Cécile Lambe, Anne Breton, Irène Loras-Duclaux, Dominique Guimber, Olivier Goulet, Emmanuelle Ecochard-Dugelay, Elie Nader, Evelyne Marinier, Noël Peretti, CarMeN, laboratoire, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU), Pôle Maladies de l'appareil digestif [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de référence des maladies digestives rares/Reference center for rare digestive diseases [Hôpital R. Debré APHP] (MaRDi), Hôpital Robert Debré, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de référence pour les maladies rares de l'intestin/Reference Center for Intestinal Rare Disease [HCL, Lyon] (MaRDi), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre de référence des maladies rares digestives/Reference center for rare digestive diseases [CHU Necker - Enfants Malades AP-HP] (MaRDI), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
Home parenteral nutrition, Pediatrics, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], Disease, Short bowel syndrome, Critical Care and Intensive Care Medicine, Intestinal Failure, chemistry.chemical_compound, Children, Cholestasis, medicine, Intestinal failure, Humans, Child, Intestinal transplantation, Nutrition and Dietetics, business.industry, Mortality rate, Taurolidine lock procedure, Disease Management, Infant, Taurolidine, medicine.disease, Home Care Services, Quality Improvement, Chronic intestinal failure, [SDV] Life Sciences [q-bio], Transplantation, Intestinal Diseases, Parenteral nutrition, Cross-Sectional Studies, chemistry, Child, Preschool, France, business, Parenteral Nutrition, Home
Abstract

International audience; BACKGROUND AND AIMS: Home Parenteral Nutrition (HPN) is the cornerstone management for children suffering from chronic intestinal failure (CIF). In France, HPN is organized from a network of 7 certified centers located in University Hospitals spread across the national territory. This study aims to review the data involving children on HPN over a 6-years period in France to outline the global and continuous improvement in care. PATIENTS AND METHODS: This cross-sectional study included all children enrolled in any of the 7 French HPN certified centers from January 1st, 2014 to December 31st, 2019. Data was recorded from annual databases provided by each center regarding: age at inclusion, indication and duration of HPN, type of intravenous lipid emulsion (ILE), outcome [PN weaning off, transfer to adult center, death, intestinal transplantation (ITx)], rate of catheter-related bloodstream infections (CRSBIs) for 1000 days of HPN, Taurolidine lock procedure (TLP) use and prevalence of cholestasis defined as conjugated bilirubin ≥20 μmol/l. RESULTS: The number of patients increased by 43.6% from 268 in 2014 to 385 in 2019. According to the year of follow up, the indications for HPN were short bowel syndrome (SBS) (42.3-46.6%), congenital enteropathies (CE) (18.5-22.8%), chronic intestinal pseudo-obstruction syndrome (CIPOS) (13.0-16.3%), long segment Hirschsprung's disease (LSHD) (9.7-13.3%), Crohn's disease (CD) (1.6-2.6%) and other non-primary digestive diseases (NPDD) such as immune deficiency, cancer or metabolic disease (4.0-9.2%). The median age at discharge on HPN decreased from 11.7 months in 2014 to 8.3 months in 2019 (p \textless .001). By December 31st, 2019, 44.8% of children had left the HPN program after a median duration ranging between 39.9 and 66.4 months. Among these patients, 192 (74.2%) were weaned off PN (94.7% SBS), 41 (15.8%) were transferred to adult centers for CIPOS (42%), SBS (31%) or CE (27%), 21 died (8.1%) - mostly in relation to cancer or immune deficiency - and 5 were transplanted (1.9%): 4 underwent combined liver-intestine transplantation for LSHD (n = 2), SBS, CE and one multivisceral Tx for CIPOS. The use of a composite fish-oil based ILE increased from 67.4% in 2014 to 88.3% in 2019 (p \textless 0.001). CRBSIs dropped from 1.04 CRSBIs per 1000 days HPN in 2014 to 0.61 in 2019 (p \textless 0.001) while meantime, the percentage of children receiving TLP increased from 29.4% to 63.0% (p \textless 0.001). The prevalence of cholestasis (conjugated bilirubin ≥ 20 μmol/l) was low and stable between 4.1 and 5.9% of children during the study period. CONCLUSION: In France, the number of children enrolled in a HPN program continuously increased over a 6 years period. SBS is the leading cause of CIF requiring HPN. The rate of CRBSIs dropped dramatically as the use of TLP increased. Mortality rate was low and mainly in relation to the underlying disease (cancer, immune deficiency). Cholestasis and intestinal Tx remained very rare.

Published
2021

6. Combined use of creatinine and cystatin C improves the detection of renal dysfunction in children undergoing home parenteral nutrition

Author

Lucie Matrat, Anne-Laure Sellier-Leclerc, Emmanuelle Ecochard-Dugelay, Mathias Ruiz, Laurence Dubourg, Noël Peretti, Sophie Heissat, Irène Loras-Duclaux, Pierre Poinsot, Stéphanie Marotte, Justine Bacchetta, Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Service de Gastroentérologie, d'hépatologie et nutrition pédiatrique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Robert Debré, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Edouard Herriot [CHU - HCL], and ROSSI, Sabine

Subjects
medicine.medical_specialty, measured glomerular filtration rate, Adolescent, estimated glomerular filtration rate, pediatrics, 030309 nutrition & dietetics, Urology, Medicine (miscellaneous), Renal function, Context (language use), urologic and male genital diseases, home parenteral nutrition, Nephropathy, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, intestinal failure, medicine, Humans, Cyst, Cystatin C, Renal Insufficiency, Chronic, Child, Retrospective Studies, 0303 health sciences, Creatinine, Nutrition and Dietetics, biology, business.industry, Retrospective cohort study, medicine.disease, 3. Good health, [SDV.AEN] Life Sciences [q-bio]/Food and Nutrition, Parenteral nutrition, chemistry, Child, Preschool, biology.protein, 030211 gastroenterology & hepatology, Female, Kidney Diseases, business, Parenteral Nutrition, Home, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, chronic kidney disease, Glomerular Filtration Rate
Abstract

International audience; Background Renal dysfunction can complicate home parenteral nutrition (HPN). The aims were, in the context of pediatric HPN, to assess renal function using the measured glomerular filtration rate (mGFR), determine the most accurate formula(s) to estimate GFR, and identify possible underlying mechanisms of renal impairment.Methods A retrospective study was performed in 2 centers. Patients receiving HPN and aged 2-16 years without medical history of nephropathy were included. GFR was measured using iohexol clearance. Estimated GFR (eGFR) was calculated using creatinine, cystatin C-based, and combined (eGFR(cr+cyst)) Schwartz formulas.Results A total of 36 patients (18 females) were included; they received HPN for 8 (2-16) years. The primary digestive disease was short-bowel syndrome for 16 (44%) patients, gastrointestinal motility disorder for 10 (28%), or congenital diarrhea for 10 (28%). The median (range) mGFR was 99 (33-136) ml/min/1.73 m(2); 9 (25%) patients had mildly decreased mGFR (= 60 ml/min/1.73 m(2)), and 2 (6%) had mildly to severely decreased mGFR (

Published
2021

7. Biopsy-Induced Duodenal Hematoma Is Not an Infrequent Complication Favored by Bone Marrow Transplantation

Author

Marc Bellaiche, Bogdana Tilea, Anaïs Sierra, Emmanuelle Ecochard-Dugelay, Hélène Cavé, and Jérôme Viala

Subjects
Male, Abdominal pain, medicine.medical_specialty, Adolescent, Duodenum, Biopsy, Perforation (oil well), Conservative Treatment, Endoscopy, Gastrointestinal, 03 medical and health sciences, Postoperative Complications, 0302 clinical medicine, Hematoma, Risk Factors, medicine, Humans, Duodenal Diseases, Child, Bone Marrow Transplantation, Retrospective Studies, medicine.diagnostic_test, business.industry, Gastroenterology, medicine.disease, Magnetic Resonance Imaging, Surgery, Case-Control Studies, Child, Preschool, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Vomiting, Acute pancreatitis, Female, 030211 gastroenterology & hepatology, medicine.symptom, Tomography, X-Ray Computed, Complication, business, Intestinal Obstruction
Abstract

Objectives Intraduodenal hematoma (IDH) is an uncommon complication of endoscopic duodenal biopsy that can cause severe obstruction of the digestive, biliary, or pancreatic tracts. We aimed to analyze the risk factors and outcomes of biopsy-induced IDH in our series. Methods Between 2010 and 2014, a retrospective chart review was conducted for all children younger than 18 years of age treated for IDH. We collected their data in our tertiary pediatric center and compared them to those of controls matched for age, sex, and pathology. Results Among 2705 upper nontherapeutic endoscopies and 1163 duodenal biopsies, 7 IDH occurred in 6 children suspected of developing graft-versus-host disease (GVHD) after bone marrow transplantation (BMT) and in 1 patient with Noonan syndrome. The IDH prevalence was significantly higher after BMT compared to children who did not undergo grafting (7% vs 0.1%; P = 7.9 × 10; odds ratio = 82). After a median delay of 48 hours, patients developed intestinal obstruction with abdominal pain and vomiting. The diagnosis was confirmed by using ultrasonography or computed tomography scans. Acute pancreatitis was determined in 3 out of 7 patients. Conservative treatment allowed complete resolution in all patients. Conclusions IDH is not an infrequent complication of endoscopic duodenal biopsy, especially in patients who undergo BMT. Endoscopists should be especially careful during the duodenal biopsy procedure in these patients. With no early perforation due to post-biopsy IDH reported, the prognosis is good and conservative management generally leads to resolution of the symptoms in 2 to 3 weeks.

Published
2016

8. Chronic Recurrent Multifocal Osteomyelitis in Pediatric Crohn Disease, A Paradoxical Effect to Antitumor Necrosis Factor Alpha

Author

Jean-Pierre Hugot, Nadia Belarbi, Christine Martinez-Vinson, Jérôme Viala, Isabelle Melki, Emmanuelle Ecochard-Dugelay, Anne Cordesse, and Marion Caseris

Subjects
medicine.medical_specialty, Necrosis, business.industry, Crohn disease, Internal medicine, Chronic recurrent multifocal osteomyelitis, Alpha (ethology), Medicine, medicine.symptom, business, medicine.disease, Gastroenterology
Published
2020

9. Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Author

Ludmila Francescatto, Catherine Guettier-Bouttier, Jean-Baptiste Rivière, Evelyne Marinier, Olivier Goulet, Philippe Gauchez, Alexandre Fabre, Yves Rimet, Jean-Pierre Hugot, Aurélie Bourchany, Laurence Faivre, Catherine Badens, Arnauld Delarue, Emmanuel Gonzales, Frédéric Huet, Raphaelle Maudinas, Arnaud Blanchard, Nicholas Katsanis, Céline Brochier-Armanet, Christel Thauvin-Robinet, Sabine Sigaudy, Julien Thevenon, Caroline Lacoste, Karin Mazodier, Ange-Line Bruel, Emmanuelle Ecochard-Dugelay, Nicolas Lévy, Cécile de Leusse, Mina Komuta, Géraldine Hery, Yannis Duffourd, Jacques Sarles, Bertrand Roquelaure, Xavier Stéphenne, Patrice Bourgeois, Perciliz L. Tan, Clothilde Esteve, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Department of Pediatric Gastroenterology, Université Paris Diderot - Paris 7 (UPD7)-PRES Sorbonne Paris Cité-Assistance Publique-Hopitaux de Paris-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Neuro-Oncologie [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Bioinformatique, phylogénie et génomique évolutive (BPGE), Département PEGASE [LBBE] (PEGASE), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Hôpital de la Timone [CHU - APHM] (TIMONE), Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM], Centre Européen de Recherche en Imagerie médicale (CERIMED), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-École Centrale de Marseille (ECM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Centre National de la Recherche Scientifique (CNRS), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Signalisation calcique et interactions cellulaires dans le foie, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Génétique Moléculaire [Hôpital de la Timone - APHM], Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie multidiciplinaire, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Pédiatrie Multidisciplinaire, Centre de référence maladie rare Thalassémie, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Origine, structure et évolution de la biodiversité (OSEB), Muséum national d'Histoire naturelle (MNHN)-Centre National de la Recherche Scientifique (CNRS), Center for Human Disease Modeling, Duke University [Durham], Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille medical genetics - Centre de génétique médicale de Marseille ( MMG ), Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Lipides - Nutrition - Cancer [Dijon - U1231] ( LNC ), Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris Diderot - Paris 7 ( UPD7 ) -PRES Sorbonne Paris Cité-Robert Debré Hospital-Assistance Publique-Hopitaux de Paris-Centre National de la Recherche Scientifique ( CNRS ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Laboratoire de Biométrie et Biologie Evolutive ( LBBE ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique ( Inria ) -Centre National de la Recherche Scientifique ( CNRS ), Génétique des Anomalies du Développement ( GAD ), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne ( UB ), Hôpital de la Timone [CHU - APHM] ( TIMONE ), Centre Européen de Recherche en Imagerie médicale ( CERIMED ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) -Ecole Centrale de Marseille ( ECM ) -Institut Paoli-Calmettes-Centre National de la Recherche Scientifique ( CNRS ), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) -Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) -Aix Marseille Université ( AMU ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) -Aix Marseille Université ( AMU ), Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Origine, structure et évolution de la biodiversité, Centre National de la Recherche Scientifique ( CNRS ), Duke university [Durham], UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - SSS/IREC/GAEN - Pôle d'Hépato-gastro-entérologie, UCL - (SLuc) Service d'anatomie pathologique, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Université Paris Diderot - Paris 7 (UPD7)-PRES Sorbonne Paris Cité-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance Publique-Hopitaux de Paris-Centre National de la Recherche Scientifique (CNRS), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), and Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)

Subjects
0301 basic medicine, Diarrhea, Male, Candidate gene, Adolescent, Bone fragility, Article, Bone and Bones, 03 medical and health sciences, Young Adult, Cholestasis, Loss of Function Mutation, GCUNC-45, Myosin, Genetics, Medicine, Animals, Humans, Family, Lymphocytes, [ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics, Hearing Loss, Gene, Genetics (clinical), Loss function, Zebrafish, business.industry, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Syndrome, Fibroblasts, medicine.disease, 3. Good health, Pedigree, 030104 developmental biology, Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Concomitant, Child, Preschool, Immunology, Female, medicine.symptom, business, Gastrointestinal Motility
Abstract

International audience; Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Whole-exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A) as a likely driver for this disorder. Subsequent in vitro and in vivo functional studies of the candidate gene indicated a loss-of-function paradigm, wherein mutations attenuated or abolished protein activity with concomitant defects in gut development and function.

Published
2018

10. Portopulmonary Hypertension in Liver Disease Presenting in Childhood

Author

Emmanuel Jacquemin, Jean-Marc Schleich, Mathieu Duché, Virginie Lambert, Olivier Bernard, and Emmanuelle Ecochard-Dugelay

Subjects
Adult, Male, Cardiac Catheterization, Pulmonary Circulation, medicine.medical_specialty, Pediatrics, Cirrhosis, Adolescent, Hypertension, Pulmonary, medicine.medical_treatment, Young Adult, Liver disease, Hypertension, Portal, medicine, Humans, Portasystemic Shunt, Surgical, Pulmonary Wedge Pressure, Young adult, Child, Intensive care medicine, Cardiac catheterization, Portopulmonary hypertension, Portal Vein, business.industry, Liver Diseases, Incidence (epidemiology), Gastroenterology, medicine.disease, Echocardiography, Pediatrics, Perinatology and Child Health, Female, Complication, business, Hepatopulmonary Syndrome
Abstract

Portopulmonary hypertension (POPH) is a known complication of cirrhosis in adults, but there is little information on its incidence and outcome in children with liver disease. We report 14 patients with POPH and present a synthesis of the medical literature.Diagnosis of POPH in the 14 patients was based on right-sided heart catheterization displaying mean pulmonary artery pressure (mPAP)25 mmHg, indexed pulmonary vascular resistances3 Wood units · m, and pulmonary wedge pressure15 mmHg. A literature review added 84 patients.In our unit, POPH was found in 0.5% of the children with portal hypertension, 0.9% of the children with end-stage liver disease awaiting transplantation, and 3 children with congenital portosystemic shunts (CPSSs). Analysis of 98 reported patients, including the 14 presented here, showed the cause of liver disease to be chronic liver disease or portal cavernoma in 76 instances (34 with a history of surgical portosystemic shunt) and CPSS in 22 instances. There was a precession with proven hypoxemia caused by hepatopulmonary syndrome in 6 patients. Median survival was 3 months in 56 untreated patients. An 80% 5-year probability of survival in 42 patients was treated by CPSS closure, pulmonary vasodilators, and/or liver transplantation. Mean pretransplant mPAP was 34 and 49 mmHg in transplant survivors and nonsurvivors, respectively.POPH is a rare but extremely severe complication of childhood liver disease. Portosystemic shunts, whether congenital or acquired, likely play an important causative role. Early diagnosis is crucial and requires systematic screening by echocardiography in children at risk.

Published
2015

11. Comparison of Real-Time Three-Dimensional Speckle Tracking to Magnetic Resonance Imaging in Patients With Coronary Heart Disease

Author

Delphine Hayat, Pascal Gueret, Martin Kloeckner, Pascal Lim, Jean-Luc Dubois-Randé, Emmanuelle Ecochard-Dugelay, Deux Jean-François, and Julien Nahum

Subjects
Male, medicine.medical_specialty, 3d strain, Magnetic Resonance Imaging, Cine, Coronary Disease, Tracking (particle physics), Severity of Illness Index, Ventricular Function, Left, Speckle pattern, Imaging, Three-Dimensional, Computer Systems, Internal medicine, medicine, Humans, Circumferential strain, In patient, Ejection fraction, medicine.diagnostic_test, business.industry, Reproducibility of Results, Stroke Volume, Magnetic resonance imaging, Middle Aged, Coronary heart disease, Disease Progression, Cardiology, Female, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
Abstract

This study compared strain values from 2-dimensional (2D) and real-time 3-dimensional (3D) speckle tracking with hyperenhancement transmural extent by magnetic resonance imaging (MRI). The study included 18 control subjects (mean age 51 ± 10 years) and 25 patients (20 men, mean age 62 ± 16 years) with ischemic left ventricular (LV) dysfunction (mean LV ejection fraction 41 ± 9%) referred for viability assessment using MRI. Longitudinal, radial, and circumferential strain values were computed using 2D speckle tracking. From analysis of 3D speckle tracking, conventional strain markers (longitudinal, radial, and circumferential) and 2 new 3D strain indexes (area and 3D strains) were obtained from apical view 3D datasets. A hyperenhancement transmural extent segment (16-segment model) was defined as delayed contrast enhancement50%. Overall, 661 of 688 segments (96%) were analyzable by MRI and 3D speckle tracking. All 3D strain components in hyperenhancement transmural extent segments (n = 154) were lower than in nontransmural necrosis (n = 219) and control (n = 288) segments. Longitudinal strain by 3D, but not by 2D, differentiated nontransmural segments with scar25%. All 3D global strain indexes correlated with LV ejection fraction (r(2) = 0.67 to 0.26, p0.05 for all comparisons), whereas only area, longitudinal, and circumferential 3D strains correlated with global scar extent. The best reproducibility was provided by 3D longitudinal (6%) and area (8%) strains. In conclusion, longitudinal and area strains by 3D speckle tracking provide an accurate and reproducible measurement of myocardial deformation that correlate with infarct size in patients with ischemic LV dysfunction.

Published
2012

12. Impact of Chest Radiography for Children with Lower Respiratory Tract Infection: A Propensity Score Approach

Author

Jocelyne de Laveaucoupet, Emmanuelle Ecochard-Dugelay, Caroline Boisson, Muriel Beliah, Jean Bouyer, Hubert Ducou-le-Pointe, Philippe Labrune, Ralph Epaud, Francis Perreaux, Vincent Gajdos, Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Service de pédiatrie [Béclère], AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de radiologie et imagerie [Béclère], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11), Université Paris-Sud - Paris 11 (UP11), Université Paris-Est (UPE), Service de Pédiatrie [Créteil], CHI Créteil, Université Pierre et Marie Curie - Paris 6 (UPMC), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart]

Subjects
Pediatrics, Pulmonology, Epidemiology, Radiography, Respiratory System, Antibiotics, lcsh:Medicine, Diagnostic Radiology, Hospitals, Urban, 0302 clinical medicine, Medicine and Health Sciences, Medicine, Prospective Studies, 030212 general & internal medicine, lcsh:Science, Pediatric Epidemiology, Prospective cohort study, Respiratory Tract Infections, Acute respiratory tract infection, Multidisciplinary, Radiology and Imaging, Anti-Bacterial Agents, 3. Good health, medicine.anatomical_structure, Research Design, Child, Preschool, Radiography, Thoracic, Emergency Service, Hospital, Research Article, Pediatric Critical Care, medicine.medical_specialty, Clinical Research Design, medicine.drug_class, Pediatric Pulmonology, Research and Analysis Methods, Sensitivity and Specificity, 03 medical and health sciences, Diagnostic Medicine, 030225 pediatrics, Lower respiratory tract infection, Humans, Propensity Score, business.industry, lcsh:R, Infant, Reproducibility of Results, medicine.disease, Health Care, Propensity score matching, lcsh:Q, Observational study, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, Respiratory tract
Abstract

Background Management of acute respiratory tract infection varies substantially despite this being a condition frequently encountered in pediatric emergency departments. Previous studies have suggested that the use of antibiotics was higher when chest radiography was performed. However none of these analyses had considered the inherent indication bias of observational studies. Objective The aim of this work was to assess the relationship between performing chest radiography and prescribing antibiotics using a propensity score analysis to address the indication bias due to non-random radiography assignment. Methods We conducted a prospective study of 697 children younger than 2 years of age who presented during the winter months of 2006–2007 for suspicion of respiratory tract infection at the Pediatric Emergency Department of an urban general hospital in France (Paris suburb). We first determined the individual propensity score (probability of having a chest radiography according to baseline characteristics). Then we assessed the relation between radiography and antibiotic prescription using two methods: adjustment and matching on the propensity score. Results We found that performing a chest radiography lead to more frequent antibiotic prescription that may be expressed as OR = 2.3, CI [1.3–4.1], or as an increased use of antibiotics of 18.6% [0.08–0.29] in the group undergoing chest radiography. Conclusion Chest radiography has a significant impact on the management of infants admitted for suspicion of respiratory tract infection in a pediatric emergency department and may lead to unnecessary administration of antibiotics.

Published
2014

13. [Strategies to prevent home accidents in children]

Author

Emmanuelle, Ecochard-Dugelay and Bertrand, Chevallier

Subjects
Accident Prevention, Accidents, Home, Humans, Health Promotion, Child
Abstract

Child injury prevention strategy can either be passive, statutory and legislative, in which case it concerns large populations, or active, with multiple vectors and adaptation to specific environmental conditions. Community program, with population and risks beforehand defined, allows limited cost and specific response to the needs of the population, whereas global strategy concerns all the population and all types of injuries. The WHO Safe Communities concept, based on the right to live in a safe environment, is a model of prevention strategy for a community. The best efficacy is obtained by a combination of legislative strategy, health education and promotion of a healthy environment.

Published
2009

14. Clinical predictors of radiographic abnormalities among infants with bronchiolitis in a paediatric emergency department

Author

Vincent Gajdos, Emmanuelle Ecochard-Dugelay, Ralph Epaud, Muriel Beliah, Philippe Labrune, Francis Perreaux, Jean Bouyer, Jocelyne de Laveaucoupet, Hubert Ducou-le-Pointe, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie [Béclère], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Intercommunal Créteil, CHI Créteil, Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Université Paris-Sud - Paris 11 (UP11), Université Pierre et Marie Curie - Paris 6 (UPMC), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)

Subjects
Male, Pediatrics, medicine.medical_specialty, Radiographic pneumonia, Exacerbation, Fever, Chest radiography, medicine, Humans, Otitis, Respiratory sounds, Prospective Studies, Pediatrics, Perinatology, and Child Health, Prospective cohort study, Intensive care medicine, Bronchitis, Hypoxia, Respiratory Sounds, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, medicine.diagnostic_test, Respiratory distress, business.industry, Clinical decision rule, Infant, Feeding Behavior, medicine.disease, Conjunctivitis, 3. Good health, Radiography, Bronchiolitis, Pediatrics, Perinatology and Child Health, Multivariate Analysis, Crackles, Female, medicine.symptom, business, Emergency Service, Hospital, Respiratory Insufficiency, Research Article
Abstract

International audience; BackgroundAcute viral respiratory exacerbation is one of the most common conditions encountered in a paediatric emergency department (PED) during winter months. We aimed at defining clinical predictors of chest radiography prescription and radiographic abnormalities, among infants with bronchiolitis in a paediatric emergency department.MethodsWe conducted a prospective cohort study of children less than 2 years of age with clinical bronchiolitis, who presented for evaluation at the paediatric emergency department of an urban general hospital in France. Detailed information regarding historical features, examination findings, and management were collected. Clinical predictors of interest were explored in multivariate logistic regression models.ResultsAmong 410 chest radiographs blindly interpreted by two experts, 40 (9.7%) were considered as abnormal. Clinical predictors of chest radiography achievement were age (under three months), feeding difficulties, fever over 38°C, hypoxia under than 95% of oxygen saturation, respiratory distress, crackles, and bronchitis rales. Clinical predictors of radiographic abnormalities were fever and close to significance hypoxia and conjunctivitis.ConclusionOur study provides arguments for reducing chest radiographs in infants with bronchiolitis. For infants with clinical factors such as age less than three months, feeding difficulties, respiratory distress without hypoxia, isolated crackles or bronchitis rales, careful clinical follow-up should be provided instead of chest radiography.

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