Douleur des enfants et adolescents diabétiques (enquête dans le service de pédiatrie au centre hospitalier d'Abbeville de janvier 2006 à octobre 2007)

Malgré une prise en charge pluridisciplinaire des enfants et adolescents diabétiques, le vécu de cette pathologie chronique est le plus souvent difficile. Ces difficultés sont liées à la spécificité du diabète de type 1 (insulinodépendant) : d'une part en raison des douleurs physiques dues aux injections sous cutanées d'insuline et à l'autosurveillance par les glycémies capillaires régulières, et d'autre part en raison des contraintes alimentaires et du retentissement social avec conséquences psychologiques. Tous ces éléments ont un impact sur l'équilibre du diabète. Après avoir abordé dans un premier temps, la douleur de l'enfant en définissant les différents types de douleur, les moyens d'évaluation et leur traitement, nous évoquerons le diabète de type 1 chez l'enfant et l'adolescent, L'enquête réalisée dans le service de pédiatrie au Centre Hospitalier d'Abbeville a pour objectif le repérage et l'auto évaluation de la douleur des enfants et adolescents diabétiques, ainsi que l'hétéro évaluation de la douleur par leurs parents. Afin de connaître l'évolution dans le temps de la perception de ces douleurs récurrentes, une comparaison entre l'évaluation actuelle et celle à l'annonce du diagnostic a été effectuée. En dehors des injections, sources de douleurs physiques, un certain nombre d'éléments contraignants de cette pathologie ont été étudiés, témoignant des douleurs psychologiques de ces enfants et adolescentsAMIENS-BU Santé (800212102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

La douleur chez l'enfant (les grandes avancées depuis 10 ans)

Le système nociceptif de l enfant est présent dès la naissance mais ses systèmes inhibiteurs sont encore immatures. Si la douleur de l enfant n est pas traitée, une hypersensibilité se développe. Ainsi l enfant a une mémoire de la douleur des gestes antérieurs pouvant entrainer des conséquences à court, moyen et long terme si cette douleur n est pas prise en charge. L évaluation de la douleur de l enfant se fait par des méthodes d hétéro-évaluation et d auto-évaluation, en fonction de l âge ou des capacités de communication, permettant de juger de l intensité de la douleur et de choisir le traitement adéquat. Les avancées depuis dix ans dans la prise en charge de la douleur de l enfant aussi bien au niveau législatif (ANAES mars 2000, plan douleur 2006-2010 avec la priorité sur la douleur chez l enfant) qu au niveau pharmacologique ont permis de révolutionner les soins en pédiatrie. En effet l arsenal thérapeutique s est bien étoffé grâce à de nouvelles AMM, de nouvelles formes galéniques pédiatriques. Les progrès majeurs en ce domaine m ont incité à réaliser une synthèse des nouveautés en pédiatrie, par année, de 1998 à 2008.The nociceptive system of the child exists from birth but its represive systems are still immature. If the child s pain is not treated then hypersensitivity develops. Thereby the child has a memory of the pain of past actions and these may have consequences in the short, medium and long term if this pain is not dealt with. The evaluation of the child s pain is done by methods of hetero-evaluation and self-evaluation. This is based on the age or the ability of the child to communicate and to judge the intensity of pain and to choose the appropriate treatment. In the last ten years, advances in the management of child s pain both at the legislative level (ANAES Plan dated March 2000: 2006-2010 plan with priority regarding children pain) and at pharmacological level have enabled paediatric care to be revolutionised. The therapeutic arsenal has developed so well thanks to new authorisations to market new products in the area of paediatrics. The major progress in this area led to a synthesis of developments in paediatrics every year from 1998 to 2008.AMIENS-BU Santé (800212102) / SudocSudocFranceF

Lésions dermatologique révélatrices de pathomimie cutanée chez une adolescente (apport de l'anatomopathologie au diagnostic)

Nous rapportons l'observation d'une jeune adolescente de 14 ans qui consulte initialement pour des lésions bulleuses avec échec d'un traitement local. Une première biopsie cutanée ne sera pas contributive. Les lésions vont récidiver avec des caractéristiques évocatrices d'un érythème pigmentaire fixe dont on connaît le rôle des médicaments comme facteur déclenchant. Toute thérapeutique est donc interrompue. Après un intervalle libre, les lésions réapparaissent avec un caractère symétrique dans un contexte psycho-affectif et social particulier. Une nouvelle biopsie orientera vers une lésion traumatique et contribuera donc au diagnostic de pathomimie. Les principales étiologies des lésions vésiculo-bulleuses de l'enfant seront évoquées dans un premier temps puis nous envisagerons une revue de la littérature concernant les pathomimies cutanées de l'enfant et de l'adolescentAMIENS-BU Santé (800212102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Optical genome mapping, a promising alternative to gold standard cytogenetic approaches in a series of acute lymphoblastic leukemias

International audienceAcute lymphoblastic leukemias (ALL) are characterized by a large number of cytogenetic abnormalities of clinical interest that require the use of several complementary techniques. Optical genome mapping (OGM) is based on analysis of ultra-high molecular weight DNA molecules that provides a high-resolution genome-wide analysis highlighting copy number and structural anomalies, including balanced translocations. We compared OGM to standard techniques (karyotyping, fluorescent in situ hybridization, single nucleotide polymorphism-array and reverse transcription multiplex ligation-dependent probe amplification) in 10 selected B or T-ALL. Eighty abnormalities were found using standard techniques of which 72 (90%) were correctly detected using OGM. Eight discrepancies were identified, while 12 additional anomalies were found by OGM. Among the discrepancies, four were detected in raw data but not retained because of filtering issues. However, four were truly missed, either because of a low variant allele frequency or because of a low coverage of some regions. Of the additional anomalies revealed by OGM, seven were confirmed by another technique, some of which are recurrent in ALL such as LMO2-TRA and MYC-TRB fusions. Despite false positive anomalies due to background noise and a case of inter-sample contamination secondarily identified, the OGM technology was relatively simple to use with little practice. Thus, OGM represents a promising alternative to cytogenetic techniques currently performed for ALL characterization. It enables a time and cost effective analysis allowing identification of complex cytogenetic events, including those currently inaccessible to standard techniques

Optical genome mapping, a promising alternative to gold standard cytogenetic approaches in a series of acute lymphoblastic leukemias

International audienceAcute lymphoblastic leukemias (ALL) are characterized by a large number of cytogenetic abnormalities of clinical interest that require the use of several complementary techniques. Optical genome mapping (OGM) is based on analysis of ultra-high molecular weight DNA molecules that provides a high-resolution genome-wide analysis highlighting copy number and structural anomalies, including balanced translocations. We compared OGM to standard techniques (karyotyping, fluorescent in situ hybridization, single nucleotide polymorphism-array and reverse transcription multiplex ligation-dependent probe amplification) in 10 selected B or T-ALL. Eighty abnormalities were found using standard techniques of which 72 (90%) were correctly detected using OGM. Eight discrepancies were identified, while 12 additional anomalies were found by OGM. Among the discrepancies, four were detected in raw data but not retained because of filtering issues. However, four were truly missed, either because of a low variant allele frequency or because of a low coverage of some regions. Of the additional anomalies revealed by OGM, seven were confirmed by another technique, some of which are recurrent in ALL such as LMO2-TRA and MYC-TRB fusions. Despite false positive anomalies due to background noise and a case of inter-sample contamination secondarily identified, the OGM technology was relatively simple to use with little practice. Thus, OGM represents a promising alternative to cytogenetic techniques currently performed for ALL characterization. It enables a time and cost effective analysis allowing identification of complex cytogenetic events, including those currently inaccessible to standard techniques

A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency

International audiencePURPOSE: Patients with primary immunodeficiency (PID) are at risk of serious complications. However, data on the incidence and causes of emergency hospital admissions are scarce. The primary objective of the present study was to describe emergency hospital admissions among patients with PID, with a view to identifying "at-risk" patient profiles.METHODS: We performed a prospective observational 12-month multicenter study in France via the CEREDIH network of regional PID reference centers from November 2010 to October 2011. All patients with PIDs requiring emergency hospital admission were included.RESULTS: A total of 200 admissions concerned 137 patients (73 adults and 64 children, 53% of whom had antibody deficiencies). Thirty admissions were reported for 16 hematopoietic stem cell transplantation recipients. When considering the 170 admissions of non-transplant patients, 149 (85%) were related to acute infections (respiratory tract infections and gastrointestinal tract infections in 72 (36%) and 34 (17%) of cases, respectively). Seventy-seven percent of the admissions occurred during winter or spring (December to May). The in-hospital mortality rate was 8.8% (12 patients); death was related to a severe infection in 11 cases (8%) and Epstein-Barr virus-induced lymphoma in 1 case. Patients with a central venous catheter (n = 19, 13.9%) were significantly more hospitalized for an infection (94.7%) than for a non-infectious reason (5.3%) (p = 0.04).CONCLUSION: Our data showed that the annual incidence of emergency hospital admission among patients with PID is 3.4%. The leading cause of emergency hospital admission was an acute infection, and having a central venous catheter was associated with a significantly greater risk of admission for an infectious episode

Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry

International audienceTo the Editor:Since the mid-1980s, continuous progress in genetics and genomics has accelerated the rapid identification of causative genetic variants leading to primary immunodeficiencies (PIDs; >300 genes),1 with the noticeable exception of B-cell disorders, such as common variable immunodeficiency (CVID). The identification of these mutations not only validates a clinical diagnosis but also is useful in several other respects (more accurate prognosis on phenotype/genotype correlation, targeted therapy, and genetic counseling). [...