21 results on '"C. Jacquier"'
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2. Effect of reduced-calcium and high-calcium cheddar cheese consumption on the excretion of faecal fat: a 2-week cross-over dietary intervention study
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Emma L. Feeney, Aisling Daly, Simone Dunne, Victoria Dible, Rebecca Barron, Sanja Seratlic, J. C. Jacquier, Michael O’Sullivan, Tom Beresford, Søren Krogh Jensen, and Eileen R. Gibney
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Nutrition and Dietetics ,Medicine (miscellaneous) - Abstract
Purpose Studies show that dairy fat consumed in the form of cheese reduce LDL-cholesterol concentration (LDL-c) compared to butter and mechanistic suggestions include the calcium content of cheese leading to enhanced faecal fat excretion. The aim of this study was to test the effect of varying the calcium content within a cheese, on faecal fat excretion as a primary outcome, and blood lipid markers, fasting glucose and calcium excretion as secondary outcomes. Methods 7 healthy males (BMI 18–25) participated in this randomized, cross-over control intervention, of 3 × 2 week periods. Diets contained 240 g/day cheese; a High Calcium Cheese (HCC) diet, a Reduced Calcium Cheese (RCC) diet, and a control arm: Reduced Calcium Cheese + CaCO3 Supplement (RCC + Supp) diet. Diets differed in calcium content and form but were otherwise controlled for energy and key macronutrients. Blood and 5-day faecal samples were collected. Results There was no significant difference in faecal fat excretion (g/day) between the diets (P = 0.066). Percent fat of faecel excretion was higher after RCC + Supp (P = 0.016). None of the individual fatty acids were different. Fasting LDL-c was significantly lower following the HCC diet vs. the other arms (P = 0.002). Faecal Ca was different across all diets (P = 0.001), lowest after RCC, and greatest after RCC + Supp. No differences were observed for fasting blood parameters or changes in anthropometry. Conclusion Varying the calcium content within a cheese matrix significantly affected fasting LDL-c values. Results did not support higher faecal fat excretion as an underlying mechanism, but the high attrition rate was a limitation. Trial registerer Trial Registered at ISRCTN.org, registration number ISRCTN11663659 on 12.07.2022. Retrospectively registered.
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- 2023
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3. Une tumeur glomique de localisation atypique
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A. Mlynski, M. Aletti, M. Billhot, C. Jacquier, S. Madec, L. Borrini, S. Lecoules, J.M. Cournac, P. Duhamel, and C. Doutrelon
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Surgical resection ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Limp ,Magnetic resonance imaging ,medicine.disease ,Resection ,Glomus tumor ,03 medical and health sciences ,0302 clinical medicine ,030220 oncology & carcinogenesis ,medicine ,030212 general & internal medicine ,Radiology ,medicine.symptom ,Cardiology and Cardiovascular Medicine ,business - Abstract
Glomous tumors are rare and benign, generally affecting the fingers. Other localizations have nevertheless been described. We report the case of a patient who presented a supra-patellar glomous tumor provoking a pain-induced limp. Magnetic resonance imaging confirmed the diagnosis. The patient underwent complete surgical resection of the tumor followed by total resolution of the pain. Glomous tumors in an atypical localization may go unnoticed, with the risk of late or erroneous diagnosis. Symptoms are easily resolved with simple resection.
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- 2019
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4. Tratamiento quirúrgico de las anomalías del conducto peritoneovaginal infantiles
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P Y Rabattu, Y Teklali, B Boillot, S Antoine, S Sibai, C Piolat, C Jacquier, and Y Robert
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03 medical and health sciences ,0302 clinical medicine ,030220 oncology & carcinogenesis ,030232 urology & nephrology - Abstract
El tratamiento quirurgico de las anomalias del conducto peritoneovaginal (CPV) infantiles es una de las intervenciones mas frecuentes en cirugia pediatrica. Sin embargo, este procedimiento no debe trivializarse, porque conlleva un riesgo para la gonada que no es nulo, debido a la diseccion del cordon espermatico en los varones. En este articulo, se describen sucesivamente las tres anomalias principales relacionadas con la persistencia de todo o de una parte del CPV. Se trata de las hernias inguinales, los hidroceles y los quistes del cordon espermatico. El tratamiento varia entre los distintos cuadros y es sustancialmente distinto al del adulto.
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- 2017
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5. DOZ047.39: Respiratory morbidity at the age of one year in children with esophageal atresia: data from the French National Esophageal Atresia Register
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F Schmitt, Laurent Michaud, A Schneider, Rony Sfeir, Christophe Laplace, P. Buisson, V Rousseau, Cecilia Tolg, T. Lamireau, S. Geiss, Corinne Borderon, P De Vries, T Gelas, J Boubnova, E Habonimana, Olivier Jaby, F Auber, Cécile Pelatan, H Allal, A Bonnard, J.L. Michel, S Irtan, Marie Laurence Polimerol, V Fouquet, M Pouzac-Arnould, M Lopez, C. Jacquier, H Lardy, Z Sapin, F Elbaz, C Grosos, A Ranke, G Levard, J Breaud, Audrey Guinot, Caroline Thumerelle, Elodie Drumez, Frédéric Gottrand, S El Mourad, A Breton, T Petit, and Stéphanie Lejeune
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Pediatrics ,medicine.medical_specialty ,Register (music) ,business.industry ,Atresia ,Respiratory morbidity ,Gastroenterology ,medicine ,General Medicine ,business ,medicine.disease - Abstract
Summary Respiratory diseases are common in children with esophageal atresia (EA), leading to an increased morbidity and mortality in the first months of life. Objective Assess the prevalence of hospitalizations linked to a respiratory disease and of maintenance inhaled therapy at the age of 1 year in French children. Methods Population based-study using data from the French national EA register. We included all children born between 2010 and 2015 with data available at birth and at follow-up at one year of age. Results A total of 981 patients born with EA were included in the register, 75 of them (8%) being deceased at the age of 1 year. Data were missing for 60 patients, thus 846 children (86%) were retained for analysis. EAs were type III of Ladd classification in 89% and type I in 7%. Rate of prematurity was 37% while 51% presented associated malformations. At 1 year of age, 1297 hospitalizations were reported for 508 patients (60%), at least one hospitalization for a respiratory disease for 251 children (51%). Factors significantly associated with respiratory hospitalizations were longer median length of oxygen supplementation (P Conclusion This study shows a high rate of respiratory problems responsive of frequent hospitalizations and inhaled maintenance treatment in children born with EA in the first year of life.
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- 2019
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6. Exercice physique et vascularite : des chaussettes hors pair
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M. Aletti, C. Li, C. Jacquier, J.M. Cournac, Magali Billhot, and C. Doutrelon
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Gastroenterology ,Internal Medicine - Abstract
Introduction Les purpuras vasculaires sont des affections systemiques ou localisees dues a des lesions de la paroi des vaisseaux cutanes. Chez le sujet jeune, les etiologies sont dominees par les infections virales (Parvovirus B19, VIH, hepatites) ou bacteriennes (meningocoque, pneumocoque), les maladies inflammatoires et auto-immunes tel que le purpura rhumatoide, ou les vascularites a ANCA. Les causes locales, moins connues, restent neanmoins une etiologie frequente et un motif regulier de consultation chez le jeune adulte, comme le purpura d’effort ou vascularite induite par l’exercice, dont nous allons presenter un cas. Observation Nous rapportons le cas d’un homme de 22 ans, engage dans l’armee depuis 9 mois, adresse en consultation de medecine interne pour un purpura de presentation atypique faisant evoquer une dermite ocre avec suspicion de vascularite cutanee. L’histoire commencait au debut de sa preparation militaire initiale, par l’apparition de lesions maculaires, pigmentees, non prurigineuses, localisees au niveau des malleoles internes et remontant progressivement jusqu’aux deux tiers superieurs des deux jambes. Ces lesions non douloureuses au repos s’accompagnaient de legers œdemes prenant le godet (prenant la marque des chaussettes et des rangers en l’occurrence) et de douleurs lors des marches prolongees avec charges lourdes ; elles evoluaient parallelement a l’effort de marche. L’examen clinique retrouvait un patient en parfait etat general, apyretique. L’examen des jambes retrouvait une eruption maculaire non infiltree, declive au niveau des membres inferieurs partant du coup de pied, a contours flous, pigmentee de couleur brune, non douloureuse, non prurigineuse, sans autres lesions cutanees. Il n’y avait pas d’œdeme associe. Il n’y avait pas de syndrome inflammatoire biologique. Le bilan infectieux (VIH, VHB, VHC, syphilis…) et auto-immun (FAN, complement, cryoglobuline…) etaient negatifs. L’echographie doppler ne retrouvait pas d’incontinence des troncs veineux profonds et superficiels. Le diagnostic de vascularite induite par l’exercice etait retenu sur les elements cliniques et biologiques. Les lesions disparaissaient rapidement apres application de dermocorticoides et le port de bas de contention lors des stations debout prolongees. Discussion Le purpura d’effort, ou vascularite du golfeur, dermite des marcheuses… sont en fait une seule et meme entite dont il convient de garder le terme plus exact de vascularite induite par l’exercice. Cette vascularite cutanee benigne survient lors de circonstance stereotypees, la plupart du temps chez des femmes d’âge mur de plus de 50 ans , lors d’efforts intenses, comme une marche prolongee. La chaleur et l’insuffisance veineuse semblent etre des facteurs favorisants. La presentation est souvent identique, avec une eruption siegeant principalement aux chevilles et aux jambes, avec une limite nette au bord des chaussettes ou un emiettement en haut de la jambe. C’est une eruption non infiltree, erythemateuse ou purpurique, qui disparait en une dizaine de jours apres arret de l’effort sans laisser de sequelles. Dans notre cas, nous avons eu affaire a un homme jeune, sans comorbidite, mais qui a en effet effectue des efforts intenses et prolonges durant plusieurs mois dans le cadre de sa formation militaire. La presentation restait identique mise a part une coloration brunâtre plutot que rouge vive. Le port de Angers quotidiennement n’a pas permis une regression complete des lesions. L’affection est totalement benigne mais peut etre invalidante par prurit d’une part, sensation de douleur et de chaleur d’autre part, ou simplement par son aspect esthetique. Les rechutes sont frequentes (77 % des cas). La biopsie n’est pas necessaire au diagnostic, mais si elle est realisee, l’histologie montre une vascularite leucocytoclasique dans 95 % des cas avec des depots de C3 ou d’IgM. Les explorations biologiques notamment auto-immunes sont toujours negatives. Cette pathologie semble etre favorisee par la stase veineuse induite d’une part par une defaillance de la pompe musculaire et d’autre part par un deficit des mecanismes impliques dans la thermoregulation survenant apres l’effort. Le traitement n’est pas codifie, mais on peut proposer en prevention le port de chaussettes de contention, et les corticoides locaux pourraient permettre d’ameliorer les symptomes. La necessite d’un bon chaussage est egalement essentielle. Conclusion La vascularite induite par l’exercice doit etre evoquee devant une eruption erythemateuse ou purpurique des jambes au cours d’un effort intense. Le diagnostic se fait essentiellement grâce a l’anamnese et a l’examen clinique, et interessera tout autant le medecin de premier recours que le specialiste de medecine interne, le dermatologue ou le medecin vasculaire.
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- 2021
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7. Une localisation rare de lymphome intravasculaire
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H. Nielly, O. Berets, E. Zinc, J. Konopacki, A. Le Roy, M. Aletti, J.M. Cournac, and C. Jacquier
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Gastroenterology ,Internal Medicine - Abstract
Introduction Le lymphome intravasculaire (LIV) est une entite rare appartenant au groupe des lymphomes diffus a grandes cellules B de la classification de l’OMS. Sa presentation proteiforme en fait une pathologie a connaitre par l’interniste. Observation Une patiente de 75 ans aux antecedents d’HTA, de tuberculose probable durant l’adolescence et porteuse d’une prothese de hanche gauche etait hospitalisee pour alteration de l’etat general avec fievre, frissons depuis 15 jours et prurit depuis 2 mois. Elle ne possedait pas d’animaux. L’examen clinique etait sans particularite. A la biologie on notait une CRP a 64 mg/L, une hyperferritinemie a 2000 microg/L, sans hyperleucocytose, avec une anemie normocytaire. Les LDH etaient tres elevees a 2500 UI/L (N Le scanner thoraco-abdomino-pelvien etait normal, sans argument pour une tuberculose. L’ETT ne retrouvait pas d’argument pour une endocardite infectieuse. Le myelogramme retrouvait une dyserythropoiese isolee sans envahissement tumoral ni infectieux, ni image d’hemophagocytose. La biopsie osteo-medullaire (BOM) etait sans particularite, ainsi que les biopsies cutanees realisees de maniere aleatoire. Le TEP scanner retrouvait une fixation heterogene du corps uterin. L’echographie et l’IRM pelvienne retrouvaient des myomes, et un endometre atrophique avec un epanchement intracavitaire contenant des debris sanguins. Une biopsie de l’uterus mettait en evidence un LIV B a grandes cellules. On ne retrouvait pas de cellules tumorales a la ponction lombaire. La patiente recevait une chimiotherapie par R-CHOP associee a 4 injections intrathecales de cytarabine, methotrexate et depomedrol. Discussion Le LIV est le plus souvent localise dans les vaisseaux de petit et moyen calibre. Un deficit en proteine de homing ou l’expression de proteines d’adhesion endotheliale pourrait empecher les cellules de quitter les vaisseaux. Les LIV representent 0,24 % des lymphomes non hodgkiniens. Leurs circonstances de decouverte sont aussi variees que l’ensemble des organes qu’ils peuvent toucher. De maniere non specifique on retrouve frequemment anemie et LDH et beta2microglobuline augmentees. Le diagnostic positif repose sur la mise en evidence de lymphocytes B tumoraux au rapport nucleo-cytoplasmique eleve, situes dans les vaisseaux des organes biopsies. Le TEP scanner peut aider a cibler l’organe a biopsier comme dans notre cas, mais l’absence d’hypermetabolisme n’elimine pas le diagnostic. Des biopsies cutanees en zone saine (notamment sur les cuisses) ou une BOM peuvent alors permettre le diagnostic. Parfois les cellules lymphomateuses peuvent etre retrouvees dans le sang circulant, d’ou l’interet d’un frottis sanguin. Les LIV uterins sont rares : une revue systematique des references en francais et en anglais sur les bases PUBMED, EMBASE et WILEY avec les termes « intravascular lymphoma » et « uterus » ne retrouve que 10 articles decrivant 13 cas ; s’y ajoute 1 article decrivant 1 cas non reference dans ces bases de donnees. Pour les 10 cas dont les donnees individuelles sont disponibles, on note un âge moyen de 60 ans (43–71), une fievre prolongee inexpliquee pour 5 cas, un amaigrissement pour 3 cas, des metrorragies pour 3 cas, un syndrome inflammatoire biologique pour 3 cas ; un cas avait des LDH normales. Dans 3 cas le TEP scanner revele l’uterus comme organe a biopsier. Le diagnostic est apporte par la biopsie endometriale dans 4 cas, et sur piece d’hysterectomie dans 6 cas. Dans une meta-analyse a partir d’une revue systematique de la litterature des LIV, les facteurs de bon pronostic sont un âge inferieur a 70 ans, l’absence d’atteinte du systeme nerveux central, des LDH Conclusion L’uterus est une localisation rare de LIV. Le diagnostic peut etre oriente par le TEP scanner comme dans notre observation. La biopsie endometriale ne suffit a etablir le diagnostic que dans moins d’un cas sur deux.
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- 2016
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8. L’amphotéricine B liposomale : une alternative thérapeutique intéressante dans le traitement de la leishmaniose cutanée à Leishmania tropica
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M. Aletti, S. Lecoules, E. Zinc, C. Jacquier, J.M. Cournac, M. Bardin, and C. Doutrelon
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Gastroenterology ,Internal Medicine - Abstract
Introduction La leishmaniose cutanee est une pathologie d’importation acquise dans des zones tropicales et subtropicales de deux principaux foyers (sud-americain et de l’Ancien Monde dont le bassin mediterraneen). Elle est transmise par la piqure ou l’ecrasement d’un moucheron : le phlebotome femelle infecte. Elle pose essentiellement des difficultes therapeutiques une fois le diagnostic evoque. Observation Un homme de 60 ans, de retour de Tunisie depuis deux mois, etait adresse pour deux larges ulcerations crouteuses entourees d’un volumineux et etendu bourrelet inflammatoire de cinq et huit centimetres de diametre. Les lesions, qui evoluaient lentement depuis quatre mois, etaient localisees au-dessus de l’arcade sourciliere droite et du coude gauche. Le pronostic tant fonctionnel qu’esthetique semblait tout particulierement engage. Le diagnostic de leishmaniose cutanee etait evoque et confirme sur l’examen du frottis de la lesion cutanee. Le diagnostic d’espece par technique PCR permettait d’identifier Leishmania tropica . L’etendue des lesions et leur localisation nous ont fait opter pour un traitement par amphotericine B liposomale (3 mg/kg de j1 a j5 et a j10). La guerison sans sequelle a ete obtenue en un mois. Discussion La leishmaniose cutanee est une endemie parasitaire affectant chaque annee plus d’un million de personnes. Son traitement reste complexe, determine par les caracteristiques cliniques des lesions, l’espece en cause et la disponibilite des traitements. Une guerison spontanee est frequente mais au risque de laisser une cicatrice inesthetique. L’arsenal therapeutique est multiple mais de tolerance et d’efficacite variables. Le traitement de la forme mediterraneenne a ete recemment clarifie par les recommandations de l’OMS [1] . Il repose sur les injections locales des derives antimonies, qui restent deconseillees sur les lesions de grande taille ou situees pres d’une region a risque fonctionnel, comme l’orbite ou une articulation. Les alternatives therapeutiques sont soit la paronomycine en topiques et la miltefosine, difficiles d’acces en France, soit l’amphotericine B liposomale, dont l’efficacite a deja ete signalee [2] et de meilleure tolerance que les derives antimonies injectables par voie generale. Conclusion Lorsque le traitement par voie locale est contre-indique ou inefficace, l’amphotericine B liposomale peut representer une alternative therapeutique interessante de la leishmaniose cutanee a L. tropica . L’utilisation de repulsifs insecticides, sur la peau nue, les habits ou impregnant la moustiquaire, reste cependant la meilleure arme de prevention contre les piqures de phlebotomes, dont le pic d’activite est observe du coucher du soleil a son levee.
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- 2016
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9. Maladie de Still du sujet âgé : une revue systématique
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G. Defuentes, M. Aletti, O. Berets, H. Nielly, C. Jacquier, and J.M. Cournac
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Gastroenterology ,Internal Medicine - Abstract
Introduction La maladie de Still de l’adulte (MSA) est l’equivalent de l’arthrite idiopathique juvenile systemique chez les patients de plus de 16 ans. Sa survenue est rare apres 45 ans, et encore plus apres 60 ans. Materiels et methodes Nous avons realise une revue systematique de la litterature des cas de MSA ayant debute apres 60 ans. Nous avons recherche les articles en francais et en anglais des bases de donnees PUBMED, EMBASE, WILEY et COCHRANE. Nous avons aussi compare les caracteristiques des patients de plus de 60 ans avec celles des patients plus jeunes en compilant les donnees des series de cas incluant au moins 10 patients et detaillant leurs donnees individuelles. Resultats Nous avons identifie 58 articles decrivant 66 cas de MSA chez des patients de plus de 60 ans (46 femmes, 19 hommes, un cas : donnee non disponible). Les principales caracteristiques etaient la fievre (100 %), les arthrites ou arthralgies (97 %), le rash cutane (88 %), la douleur pharyngee (52 %), les adenopathies ou la splenomegalie (41 %), l’hepatomegalie (18 %), les myalgies (23 %), les serites (18 %), la leucocytose avec > 80 % de neutrophiles, le syndrome inflammatoire biologique (100 %), l’hyperferritinemie (100 %), la cytolyse hepatique (78 %), la negativite des anticorps antinucleaires et du facteur rhumatoide (96 %). Sept cas etaient decrits au sein de series comprenant au moins 10 patients. La meta-analyse montrait une moins grande prevalence de douleur pharyngee et de myalgies chez les patients de plus de 60 ans, de maniere statistiquement significative mais avec une tres faible puissance statistique. Discussion Peu de differences cliniques apparaissent entre les patients de plus de 60 ans et les patients plus jeunes. Les hypotheses pathogeniques actuelles inspirees des concepts physiopathologiques de l’arthrite juvenile impliquent un deficit inne des cellules natural killer . Une expression tardive de ce deficit, au-dela de 60 ans, est surprenante. Ce deficit en natural killer pourrait ne pas etre inne mais provenir de l’immunosenescence chez les patients âges de plus de 60 ans. Conclusion Les caracteristiques cliniques des patients de plus de 60 ans presentant une MSA sont similaires a celles de patients plus jeunes. Cette similitude n’exclut pas de possibles voies physiopathologiques initiales differentes, menant a une voie finale commune impliquant l’activation des macrophages, et la secretion d’IL-6 et d’IL-18.
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- 2015
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10. P-014 – Torsion aigüe de trompe utérine chez l'enfant: piège clinique et échographique à ne pas méconnaître
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R. Faguet, C. Piolat, S Antoine, Y. Teklali, Y. Robert, S Sibai, C. Durand, and C. Jacquier
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Pediatrics, Perinatology and Child Health - Published
- 2015
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11. Management challenges of recurrent venous thromboembolism in advanced digestive cancers: Case studies and therapeutic strategies.
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Doutrelon C, Matray C, Klotz C, Delamarre S, Razafinimanana M, De Charry F, Cournac JM, Jacquier C, Billhot M, and Aletti M
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- Humans, Middle Aged, Male, Female, Fatal Outcome, Treatment Outcome, Palliative Care, Disease Progression, Heparin, Low-Molecular-Weight therapeutic use, Risk Factors, Blood Coagulation drug effects, Gastrointestinal Hemorrhage etiology, Gastrointestinal Hemorrhage therapy, Gastrointestinal Hemorrhage drug therapy, Venous Thromboembolism drug therapy, Venous Thromboembolism etiology, Venous Thromboembolism diagnosis, Anticoagulants therapeutic use, Recurrence, Pulmonary Embolism drug therapy, Pulmonary Embolism etiology
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Introduction: Venous thromboembolism (VTE) poses a significant challenge in cancer patients, particularly those with advanced malignancies. The management of recurrent VTE is complicated by the need for effective anticoagulation while addressing the underlying cancer progression., Cases: We present two clinical cases from the gastroenterology department at Percy French military hospital involving patients with progressive malignant digestive diseases. Patient 1, a 62-year-old woman, developed recurrent pulmonary embolism despite appropriate anticoagulation with low molecular weight heparin (LMWH). After treatment adjustments, she ultimately succumbed to tumor progression. Patient 2, a 54-year-old man hospitalized for pulmonary embolism, faced upper gastrointestinal bleeding and delayed anticoagulation initiation. Although he showed initial improvement with immunotherapy and stabilization of thrombotic events, he experienced oncological progression and recurrent VTE, leading to palliative care., Discussion: These cases illustrate the difficulties of managing recurrent VTE, even with curative anticoagulation and dose escalation. In case of VTE recurrence, it is essential to investigate for cancer progression and ensure patient adherence to treatment. A comprehensive management strategy should involve both the malignancy and the thrombotic complications., Conclusion: The management of recurrent VTE in cancer patients requires a multidisciplinary approach to evaluate the benefit-risk ratio of anticoagulation adjustments. These clinical cases highlight the necessity for integrated care that addresses both oncological and thrombotic concerns, emphasizing the importance of timely intervention and collaboration among healthcare providers., (Copyright © 2024 Elsevier Masson SAS. All rights reserved.)
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- 2024
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12. Bisphosphonate treatment in inaccessible osteoid osteomas: An alternative therapeutic approach.
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Larid G, Valayer S, Jacquier C, Lafforgue P, Laredo JD, and Pham T
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- Humans, Male, Adult, Diphosphonates therapeutic use, Zoledronic Acid therapeutic use, Pain, Treatment Outcome, Osteoma, Osteoid diagnostic imaging, Osteoma, Osteoid drug therapy, Osteoma, Osteoid surgery, Bone Neoplasms diagnostic imaging, Bone Neoplasms drug therapy, Bone Neoplasms pathology
- Abstract
Introduction: Osteoid osteoma is a benign osteogenic tumour traditionally treated by surgical excision or percutaneous CT-guided procedures. We describe three cases of osteoid osteomas of which the locations were difficult to access, or for which the procedure was potentially unsafe, involving treatment with zoledronic acid infusions., Case Description: We report here three male 28-to-31-year-old patients with no medical history who had osteoid osteomas located at the second cervical vertebra, the femoral head, and the third lumbar vertebra respectively. These lesions were responsible for inflammatory pain requiring daily treatment with acetylsalicylic acid. Given the impairment risk, all of the lesions were ineligible for surgical or percutaneous treatment. Patients were successfully treated by 3 to 6 monthly zoledronic acid infusions. All patients experienced complete relief of their symptoms allowing aspirin discontinuation, without any side effects. In the first two cases, CT and MRI control showed nidus mineralization and bone marrow oedema regression, correlating with the pain decrease. After 5years of follow-up, there had been no recurrence of the symptoms., Conclusion: In these patients, monthly 4mg zoledronic acid infusions have been safe and effective in the treatment of inaccessible osteoid osteomas., (Copyright © 2023 Société française de rhumatologie. Published by Elsevier Masson SAS. All rights reserved.)
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- 2023
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13. Topological screen identifies hundreds of Cp190- and CTCF-dependent Drosophila chromatin insulator elements.
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Kahn TG, Savitsky M, Kuong C, Jacquier C, Cavalli G, Chang JM, and Schwartz YB
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- Animals, Chromatin genetics, Chromatin metabolism, DNA-Binding Proteins metabolism, Insulator Elements genetics, Nuclear Proteins metabolism, Microtubule-Associated Proteins metabolism, CCCTC-Binding Factor genetics, CCCTC-Binding Factor metabolism, Drosophila metabolism, Drosophila Proteins genetics, Drosophila Proteins metabolism
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Drosophila insulators were the first DNA elements found to regulate gene expression by delimiting chromatin contacts. We still do not know how many of them exist and what impact they have on the Drosophila genome folding. Contrary to vertebrates, there is no evidence that fly insulators block cohesin-mediated chromatin loop extrusion. Therefore, their mechanism of action remains uncertain. To bridge these gaps, we mapped chromatin contacts in Drosophila cells lacking the key insulator proteins CTCF and Cp190. With this approach, we found hundreds of insulator elements. Their study indicates that Drosophila insulators play a minor role in the overall genome folding but affect chromatin contacts locally at many loci. Our observations argue that Cp190 promotes cobinding of other insulator proteins and that the model, where Drosophila insulators block chromatin contacts by forming loops, needs revision. Our insulator catalog provides an important resource to study mechanisms of genome folding.
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- 2023
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14. Anal canal duplication in children: a monocentric experience of 12 cases.
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Ailhaud A, Alao O, Sole Cruz E, Faguet R, Verot PL, Piolat C, Jacquier C, and Rabattu PY
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- Anal Canal diagnostic imaging, Anal Canal pathology, Anal Canal surgery, Child, Child, Preschool, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Perineum abnormalities, Postoperative Period, Anal Canal abnormalities
- Abstract
Purpose: Anal canal duplication is a rare malformation characterized by a second perineal opening positioned behind the anus, which is generally observed at 6 o'clock in the lithotomy position. The purpose was to describe six new cases of anal canal duplication (in addition to our previously reported series of six patients) with the aim of providing further clinical information about this anomaly., Methods: We described 6 new cases of anal canal duplication in terms of symptoms, anatomical disposition, imaging results, and histopathology. Clinical details of these cases and those already reported (n = 12) were summarized and compared to existing literature., Results: A total of 12 cases were reported over 34 years. 17% of the patients were male, constituting the only subgroup to present a communication with the digestive tract. A single patient, diagnosed at 12 years, was symptomatic. Half of the patients had at least one associated malformation. All patients underwent surgery, either with a posterior sagittal or perineal approach., Conclusion: Diagnosis of anal canal duplication should be suspected when a perineal opening positioned behind the anus is present, and necessitates further exploration by a comprehensive clinical examination and imaging. Surgery is always required, typically performed via a posterior sagittal approach. The postoperative course is usually uncomplicated.
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- 2021
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15. [Asylum seekers : collaboration between nurses and medical students during the COVID-19 epidemic].
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Ottino C, Mettraux L, Debernardi N, Stouder N, Jacquier C, Maillefer F, Bagley ML, Felappi A, Bodenmann P, and Sanchis Zozaya J
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- Humans, Pandemics, SARS-CoV-2, COVID-19, Refugees, Students, Medical
- Abstract
The exceptional health challenges generated by the COVID-19 pandemic have sparked a wave of mobilization among medical students. We were four students to provide support to the Migrant Care Units of the Vulnerability and Social Medicine Department of Unisanté. This two-month experience, very different from the academic framework we were used to during our studies, allowed us to discover a clinic grappling with social and cross-cultural issues, and taught us the mutual benefits of an interprofessional collaboration with experienced nurses. Through a few clinical vignettes, we would like to share the challenges of the care we have seen, as well as the significant lessons we have learned from them., Competing Interests: Les auteurs n’ont déclaré aucun conflit d’intérêts en relation avec cet article.
- Published
- 2021
16. tRNA 2'-O-methylation by a duo of TRM7/FTSJ1 proteins modulates small RNA silencing in Drosophila.
- Author
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Angelova MT, Dimitrova DG, Da Silva B, Marchand V, Jacquier C, Achour C, Brazane M, Goyenvalle C, Bourguignon-Igel V, Shehzada S, Khouider S, Lence T, Guerineau V, Roignant JY, Antoniewski C, Teysset L, Bregeon D, Motorin Y, Schaefer MR, and Carré C
- Subjects
- Animals, Gene Expression Regulation genetics, Humans, Methylation, Methyltransferases genetics, Nuclear Proteins genetics, RNA Interference, Saccharomyces cerevisiae genetics, Saccharomyces cerevisiae Proteins genetics, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Drosophila melanogaster genetics, Gene Silencing, RNA, Transfer genetics, tRNA Methyltransferases genetics
- Abstract
2'-O-Methylation (Nm) represents one of the most common RNA modifications. Nm affects RNA structure and function with crucial roles in various RNA-mediated processes ranging from RNA silencing, translation, self versus non-self recognition to viral defense mechanisms. Here, we identify two Nm methyltransferases (Nm-MTases) in Drosophila melanogaster (CG7009 and CG5220) as functional orthologs of yeast TRM7 and human FTSJ1. Genetic knockout studies together with MALDI-TOF mass spectrometry and RiboMethSeq mapping revealed that CG7009 is responsible for methylating the wobble position in tRNAPhe, tRNATrp and tRNALeu, while CG5220 methylates position C32 in the same tRNAs and also targets additional tRNAs. CG7009 or CG5220 mutant animals were viable and fertile but exhibited various phenotypes such as lifespan reduction, small RNA pathways dysfunction and increased sensitivity to RNA virus infections. Our results provide the first detailed characterization of two TRM7 family members in Drosophila and uncover a molecular link between enzymes catalyzing Nm at specific tRNAs and small RNA-induced gene silencing pathways., (© The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research.)
- Published
- 2020
- Full Text
- View/download PDF
17. Predictors of the Performance of Early Antireflux Surgery in Esophageal Atresia.
- Author
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François B, Michaud L, Sfeir R, Bonnard A, Rousseau V, Blanc S, Gelas T, Boubnova J, Jacquier C, Irtan S, Breton A, Fouquet V, Guinot A, Lamireau T, Habounimana E, Schneider A, Elbaz F, Ranke A, Poli-Merol ML, Kalfa N, Dupont-Lucas C, Petit T, Michel JL, Buisson P, Lirussi-Borgnon J, Sapin E, Lardy H, Levard G, Parmentier B, Cremillieux C, Lopez M, Podevin G, Schmitt F, Borderon C, Jaby O, Pelatan C, De Vries P, Pouzac-Arnould M, Grosos C, Breaud J, Laplace C, Tolg C, Sika A, Auber F, Labreuche J, Duhamel A, and Gottrand F
- Subjects
- Anastomosis, Surgical adverse effects, Constriction, Pathologic, Esophageal Atresia classification, Female, France, Gastroesophageal Reflux surgery, Gastrostomy, Humans, Infant, Infant, Low Birth Weight, Infant, Newborn, Male, Multivariate Analysis, Nutritional Status, Registries, Esophageal Atresia surgery, Fundoplication
- Abstract
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., (Copyright © 2019 Elsevier Inc. All rights reserved.)
- Published
- 2019
- Full Text
- View/download PDF
18. New hominin postcranial remains from locality OMO 323, Shungura Formation, Lower Omo Valley, southwestern Ethiopia.
- Author
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Daver G, Berillon G, Jacquier C, Ardagna Y, Yadeta M, Maurin T, Souron A, Blondel C, Coppens Y, and Boisserie JR
- Subjects
- Animals, Environment, Ethiopia, Paleontology, Finger Phalanges anatomy & histology, Fossils anatomy & histology, Hominidae anatomy & histology, Metatarsal Bones anatomy & histology, Radius anatomy & histology
- Published
- 2018
- Full Text
- View/download PDF
19. [Continuity of care from pediatrician to general practitioner in Switzerland : a practical approach].
- Author
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Meynard A, Bideau M, Jacquier C, and Klauser P
- Abstract
The transition from a pediatrician to a general practitioner builds on a strong relationship with the pediatrician. Informed consent and decision making in children and adolescents are greatly improved by a trustful relationship with healthcare providers. In Switzerland, minors can access their medical file without parental consent if considered competent. Electronic files can be helpful but may lead to breeches in confidentiality : transmission of data concerning the family or parent's health status not relevant for the adolescent's medical follow-up, parental access to the medical files. A simple transmission file can be given to the adolescent at the end of pediatric follow up. Visits to mark the end of the pediatric follow-up and the beginning of the GP follow-up should be systematically offered to young people with special needs., Competing Interests: Les auteurs n’ont déclaré aucun conflit d’intérêts en relation avec cet article.
- Published
- 2018
20. TADs are 3D structural units of higher-order chromosome organization in Drosophila .
- Author
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Szabo Q, Jost D, Chang JM, Cattoni DI, Papadopoulos GL, Bonev B, Sexton T, Gurgo J, Jacquier C, Nollmann M, Bantignies F, and Cavalli G
- Subjects
- Animals, Biopolymers chemistry, Chromatin chemistry, Nanoparticles chemistry, Chromosomes, Insect chemistry, Chromosomes, Insect genetics, Drosophila genetics, Imaging, Three-Dimensional
- Abstract
Deciphering the rules of genome folding in the cell nucleus is essential to understand its functions. Recent chromosome conformation capture (Hi-C) studies have revealed that the genome is partitioned into topologically associating domains (TADs), which demarcate functional epigenetic domains defined by combinations of specific chromatin marks. However, whether TADs are true physical units in each cell nucleus or whether they reflect statistical frequencies of measured interactions within cell populations is unclear. Using a combination of Hi-C, three-dimensional (3D) fluorescent in situ hybridization, super-resolution microscopy, and polymer modeling, we provide an integrative view of chromatin folding in Drosophila . We observed that repressed TADs form a succession of discrete nanocompartments, interspersed by less condensed active regions. Single-cell analysis revealed a consistent TAD-based physical compartmentalization of the chromatin fiber, with some degree of heterogeneity in intra-TAD conformations and in cis and trans inter-TAD contact events. These results indicate that TADs are fundamental 3D genome units that engage in dynamic higher-order inter-TAD connections. This domain-based architecture is likely to play a major role in regulatory transactions during DNA-dependent processes.
- Published
- 2018
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21. The cricket paralysis virus suppressor inhibits microRNA silencing mediated by the Drosophila Argonaute-2 protein.
- Author
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Besnard-Guérin C, Jacquier C, Pidoux J, Deddouche S, and Antoniewski C
- Subjects
- Animals, Dicistroviridae classification, MicroRNAs metabolism, Argonaute Proteins metabolism, Dicistroviridae metabolism, Drosophila Proteins metabolism, Drosophila melanogaster genetics, Drosophila melanogaster virology, Insect Viruses metabolism, RNA Interference, Viral Proteins metabolism
- Abstract
Small RNAs are potent regulators of gene expression. They also act in defense pathways against invading nucleic acids such as transposable elements or viruses. To counteract these defenses, viruses have evolved viral suppressors of RNA silencing (VSRs). Plant viruses encoded VSRs interfere with siRNAs or miRNAs by targeting common mediators of these two pathways. In contrast, VSRs identified in insect viruses to date only interfere with the siRNA pathway whose effector Argonaute protein is Argonaute-2 (Ago-2). Although a majority of Drosophila miRNAs exerts their silencing activity through their loading into the Argonaute-1 protein, recent studies highlighted that a fraction of miRNAs can be loaded into Ago-2, thus acting as siRNAs. In light of these recent findings, we re-examined the role of insect VSRs on Ago-2-mediated miRNA silencing in Drosophila melanogaster. Using specific reporter systems in cultured Schneider-2 cells and transgenic flies, we showed here that the Cricket Paralysis virus VSR CrPV1-A but not the Flock House virus B2 VSR abolishes silencing by miRNAs loaded into the Ago-2 protein. Thus, our results provide the first evidence that insect VSR have the potential to directly interfere with the miRNA silencing pathway.
- Published
- 2015
- Full Text
- View/download PDF
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