Vaincre la Mucoviscidose

Abstract Background: Mucopolysaccharidoses (MPS) are a group of rare genetic lysosomal storage disorders with a wide spectrum of clinical severities. Chronic pain is frequent but difficult to assess. The aim of this study was to evaluate the detection and management of pain in pediatric MPS patients. Methods:Pain-related data were retrospectively collected from the medical records of pediatric MPS patients from five French centers for inborn metabolic disorders. A national online survey was also conducted about the feelingsof patients and/or their families and of healthcare professionals about the detection and management of pain in pediatricMPS patients. Results: The medical records of 48 patients with all subtypes of MPS were analyzed. Painwas frequent and recurrent in MPS patients (pain was reported in 94% of the patients), but it was undoubtedly difficult to assess. We observed important differences between (1) medical records demonstrating frequent assessment and treatment of pain, (2) feelings of patients or their families (53 questionnaires) reporting frequent pain, and (3) feelings of healthcare professionals (21 questionnaires) who were quite satisfied with their own practices, suggesting that the majority of patients were unpainful. We recommend a more systematic evaluation of pain, particularly for outpatients, with the use of adapted tools, notably in children with disabilities,and with a multidimensional approach to pain assessment and management. Caregiver training is also needed,and close collaboration with pain centers is encouraged. Conclusion: A routine pain assessment protocol for MPS patients is required that covers the entire spectrum of pain and canbe adapted for every type of patient, including those with neurocognitive and motor impairments.

L’unité d’enseignement « Immunopathologie » qui propose les brèves présentées dans ce numéro est suivie par des étudiants de divers parcours du Master Biologie Santé de l’université de Montpellier. Ce Master rassemble des étudiants issus du domaine des sciences et technologies et de domaines de la santé. On y étudie les bases physiopathologiques des maladies immunologiques, les cibles thérapeutiques et les mécanismes d’échappement des microorganismes et des tumeurs Les articles présentés ont été choisis par les étudiants selon leur domaine de prédilection.

Cystic fibrosis (CF) care and the life expectancy of affected patients have substantially improved in recent decades, leading to an increased number of patients being diagnosed with comorbidities, including cancers. Our objective was to characterize the epidemiology of cancers between 2006 and 2017 in CF patients with and without a lung transplant. Medical records of CF patients from 2006 to 2016 in the French CF Registry were linked to their corresponding claims data (SNDS). The annual prevalence and incidence rates of cancers were estimated from 2006 to 2017 in CF patients without lung transplant and in those with lung transplant after transplantation. Of the 7,671 patients included in the French CF Registry, 6,187 patients (80.7%) were linked to the SNDS; among them, 1,006 (16.3%) received a lung transplant. The prevalence of any cancer increased between 2006 and 2017, from 0.3 to 1.0% and from 1.3 to 6.3% in non-transplanted and transplanted patients, respectively. When compared to the general population, the incidence of cancer was significantly higher in both non-transplanted [Standardized Incidence Ratio (SIR) = 2.57, 95%CI 2.05 to 3.17] and transplanted (SIR = 19.76, 95%CI 16.45 to 23.55) patients. The median time between transplant and the first cancer was 3.9 years. Among the 211 incident cancer cases, the most frequent malignant neoplasms were skin neoplasm (48 cases), lung cancers (31 cases), gastro-intestinal (24 cases), and hematologic cancers (17 cases). The overall burden of cancer in CF patients is high, particularly following lung transplantation. Therefore, specific follow-up, screening and cancer prevention for CF patients with transplants are necessary.

BackgroundLife expectancy for people with cystic fibrosis (CF) varies considerably both within and between countries. The objective of this study was to compare survival among countries with single-payer healthcare systems while accounting for markers of disease severity.MethodsThis cohort study used data from established national CF registries in Australia, Canada, France and New Zealand from 2015 to 2019. Median age of survival for each of the four countries was estimated using the Kaplan-Meier method. A Cox proportional hazards model was used to compare risk of death between Canada, France and Australia after adjusting for prognostic factors. Due to low number of deaths, New Zealand was not included in final adjusted models.ResultsBetween 2015 and 2019, a total of 14 842 people (3537 Australia, 4434 Canada, 6411 France and 460 New Zealand) were included. The median age of survival was highest in France 65.9 years (95% CI: 59.8 to 76.0) versus 53.3 years (95% CI: 48.9 to 59.8) for Australia, 55.4 years (95% CI: 51.3 to 59.2) for Canada and 54.8 years (95% CI: 40.7 to not available) for New Zealand. After adjusting for individual-level factors, the risk of death was significantly higher in Canada (HR 1.85, 95% CI: 1.48 to 2.32; p<0.001) and Australia (HR 2.08, 95% CI: 1.64 to 2.64; p<0.001) versus France.InterpretationWe observed significantly higher survival in France compared with countries with single-payer healthcare systems. The median age of survival in France exceeded 60 years of age despite having the highest proportion of underweight patients which may be due to differences in availability of transplant.

Achromobacter spp. are nonfermenting Gram-negative bacilli mainly studied among cystic fibrosis (CF) patients. The identification of the 19 species within the genus is time-consuming (nrdA-sequencing), thus data concerning the distribution of the species are limited to specific studies. Recently, we built a database using MALDI-TOF mass spectrometry (MS) (Bruker) that allows rapid and accurate species identification and detection of the multiresistant epidemic clones: A. xylosoxidans ST137 spreading among CF patients in various French and Belgium centers, and A. ruhlandii DES in Denmark. Here, we first assessed whether species identification could be achieved with our database solely by analysis of MS spectra without availability of isolates. Then, we conducted a multicentric study describing the distribution of Achromobacter species and of the clone ST137 among French CF centers. We collected and analyzed with our local database the spectra of Achromobacter isolates from 193 patients (528 samples) from 12 centers during 2020. In total, our approach enabled to conclude for 502/528 samples (95.1%), corresponding to 181 patients. Eleven species were detected, only five being involved in chronic colonization, A. xylosoxidans (86.4%), A. insuavis (9.1%), A. mucicolens (2.3%), A. marplatensis (1.1%) and A. genogroup 3 (1.1%). This study confirmed the high prevalence of A. xylosoxidans in chronic colonizations and the circulation of the clone A. xylosoxidans ST137 in France: four patients in two centers. The present study is the first to report the distribution of Achromobacter species from CF patients samples using retrospective MALDI-TOF/MS data. This easy approach could enable future large-scale epidemiological studies.