Pulmonary Fibrosis in Children

Nathan, Nadia; Sileo, Chiara; Thouvenin, Guillaume; Berdah, Laura; Delestrain, Céline; Manali, E.; Papiris, Spyros; Léger, Pierre-Louis; Pointe, Hubert Ducou Le; L’Hermine, Aurore Coulomb; Clément, Annick

doi:10.3390/jcm8091312

Cited by 25 publications

(32 citation statements)

References 84 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Pulmonary fibrosis (PF) in children is a rare and heterogeneous condition named children's interstitial lung disease (chILD) [36]. Children exhibit more inflammatory cells, less fibroblasts, and lower ECM deposition than adults [37]. This fibrosing process is characterized by endoplasmic reticulum (ER) stress without its evolution towards ECM accumulation, alveolar collapse, and re-epithelialization that usually characterize the wound-healing defects observed in adults [38].…”

Section: Discussionmentioning

confidence: 99%

Age-Dependent Chronic Lung Injury and Pulmonary Fibrosis following Single Exposure to Hydrochloric Acid

Biancatelli

Solopov

Dimitropoulou

et al. 2021

IJMS

View full text Add to dashboard Cite

Exposure to hydrochloric acid (HCl) represents a threat to public health. Children may inhale higher doses and develop greater injury because of their smaller airways and faster respiratory rate. We have developed a mouse model of pediatric exposure to HCl by intratracheally instilling p24 mice (mice 24 days old; 8–10 g) with 2 µL/g 0.1 N HCl, and compared the profile of lung injury to that in HCl-instilled adults (10 weeks old; 25–30 g) and their age-matched saline controls. After 30 days, alveolar inflammation was observed with increased proteinosis and mononuclear cells in the bronchoalveolar lavage fluid (BALF) in both HCl-instilled groups. Young p24 animals—but not adults—exhibited higher NLR family pyrin domain containing 3 (NLRP3) inflammasome levels. Increased amounts of Transforming Growth Factor-β (TGF-β) mRNA and its intracellular canonical and non-canonical pathways (p-Smad2 and p-ERK) were found in the lungs of both young and adult HCl-instilled mice. Constitutive age-related differences were observed in the levels of heat shock protein family (HSP70 and HSP90). HCl equally provoked the deposition of collagen and fibronectin; however, significant age-dependent differences were observed in the increase in elastin and tenascin C mRNA. HCl induced pulmonary fibrosis with an increased Ashcroft score, which was higher in adults, and a reduction in alveolar Mean Alveolar Linear Intercept (MALI). Young mice developed increased Newtonian resistance (Rn) and lower PV loops, while adults showed a higher respiratory system resistance and elastance. This data indicate that young p24 mice can suffer long-term complications from a single exposure to HCl, and can develop chronic lung injury characterized by a stronger persistent inflammation and lesser fibrotic pattern, mostly in the airways, differently from adults. Further data are required to characterize HCl time- and dose-dependent injury in young animals and to identify new key-molecular targets.

show abstract

Section: Discussionmentioning

confidence: 99%

Age-Dependent Chronic Lung Injury and Pulmonary Fibrosis following Single Exposure to Hydrochloric Acid

Biancatelli

Solopov

Dimitropoulou

et al. 2021

IJMS

View full text Add to dashboard Cite

show abstract

“…As for DNAJB13, it encodes an HSP40 family member involved in the proper building of the ciliary and flagellar axoneme [14]. In addition, besides Table 3 International publications so far associated to the RaDiCo program Discovery of new disease genes TTC12 loss-of function mutations cause primary ciliary dyskinesia and unveil distinct dynein assembly in motile cilia vs. flagella [11] Lack of GAS2L2 causes primary ciliary dyskinesia by impairing cilia orientation and mucociliary clearance [12] Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversus [13] Mutations in DNAJB13, encoding an HSP40 family member, cause primary ciliary dyskinesia and male infertility [14] de novo missense variants in FBXW11, a gene that encodes an F-box protein involved in ubiquitination and proteosomal degradation [15] Assessment of treatment management Vascular Ehlers-Danlos syndrome -Long-term observational study [16] Pathophysiology and diagnostic approaches Accuracy of clinical diagnostic criteria for patients with vascular Ehlers-Danlos syndrome in a tertiary referral centre [17] Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer [18] Pulmonary fibrosis in children [19] Chronic interstitial lung diseases in children: diagnosis approaches [20] Pulmonary hemosiderosis in children with Down syndrome: a national experience [21] Paediatric sarcoidosis [22] Genetic causes and clinical management of pediatric interstitial lung diseases [23] Genotype-phenotype relationships Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association [24] Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele [25] Alport syndrome: a unified classification of genetic disorders of collagen IV α345 [26] Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia [27] Development and validation of burden questionnaires and Quality of life Burden of albinism: development and validation of a burden assessment tool [28] Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool [29] Health-related quality of life in infants and children with interstitial lung disease [30] Methodological aspects Federating patients identities: the case of rare diseases [10] Cerberus, an access control s...…”

Section: Resultsmentioning

confidence: 99%

RaDiCo, the French national research program on rare disease cohorts

Amselem

Guéguen

Weinbach

et al. 2021

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background Rare diseases (RDs) affect nearly 3 million people in France and at least 26–30 million people in Europe. These diseases, which represent a major medical concern, are mainly of genetic origin, often chronic, progressive, degenerative, life threatening and disabling, accounting for more than one third of all deaths occurring during infancy. In this context, there are needs for coordinated information on RDs at national/international levels, based on high quality, interoperable and sharable data. The main objective of the RaDiCo (Rare Disease Cohorts) program, coordinated by Inserm, was the development of RD e-cohorts via a national platform. The cohort projects were selected through a national call in 2014. The e-cohorts are supported by an interoperable platform, equivalent to an infrastructure, constructed on the "cloud computing" principle and in compliance with the European General Data Protection Regulation. It is dedicated to allow a continuous monitoring of data quality and consistency, in line with the French Health Data Hub. Results Depending on cohorts, the objectives are to describe the natural history of the studied RD(s), identify the underlying disease genes, establish phenotype-genotype correlations, decipher their pathophysiology, assess their societal and medico-economic impact, and/or identify patients eligible for new therapeutic approaches. Inclusion of prevalent and incident cases started at the end of 2016. As of April 2021, 5558 patients have been included within 13 RD e-cohorts covering 67 diseases integrated in 10 European Reference Networks and contributing to the European Joint Program on RDs. Several original results have been obtained in relation with the secondary objectives of the RaDiCo cohorts. They deal with discovery of new disease genes, assessment of treatment management, deciphering the underlying pathophysiological mechanisms, diagnostic approaches, genotype–phenotype relationships, development and validation of questionnaires relative to disease burden, or methodological aspects. Conclusion RaDiCo currently hosts 13 RD e-cohorts on a sharable and interoperable platform constructed on the “cloud computing” principle. New RD e-cohorts at the European and international levels are targeted.

show abstract

“…• Health-related quality of life in infants and children with interstitial lung disease [19] • Pulmonary brosis in children [20] • Chronic interstitial lung diseases in children: diagnosis approaches [21] • Pulmonary hemosiderosis in children with Down syndrome: a national experience [22] • Paediatric sarcoidosis [23] • Genetic causes and clinical management of pediatric interstitial lung diseases [24] Genotype-phenotype relationships…”

Section: The Radico Platformmentioning

confidence: 99%

RaDiCo, the French National Program on Rare Disease Cohorts

Amselem

Guéguen

Weinbach³

et al. 2021

Preprint

View full text Add to dashboard Cite

Background: Rare diseases (RDs) affect nearly 3 million people in France and at least 26-30 million people in Europe. These diseases, which represent a major medical concern, are mainly of genetic origin, often chronic, progressive, degenerative, life threatening and disabling, accounting for more than one third of all deaths occurring during infancy. In this context, there are needs for coordinated information on RDs at national /international levels, based on high quality, interoperable and sharable data. The main objective of the RaDiCo (Rare Disease Cohorts) program, coordinated by Inserm, was the development of RD e-cohorts via a national platform. The cohort projects were selected through a national call in 2014. The e-cohorts are supported by an interoperable platform, equivalent to an infrastructure, constructed on the "cloud computing" principle and in compliance with the European General Data Protection Regulation. It is dedicated to allow a continuous monitoring of data quality and consistency, in line with the French Health Data Hub. Results: Depending on cohorts, the objectives are to describe the natural history of the studied RD(s), establish phenotype-genotype correlations, decipher their pathophysiology, assess their societal and medico-economic impact, and/or identify patients eligible for new therapeutic approaches. Inclusion of prevalent and incident cases started at the end of 2016. As of April 2021, 5558 patients have been included within 13 RD e-cohorts covering 67 diseases integrated in 10 European Reference Networks and contributing to the European Joint Program on RDs. Several original results have been obtained in relation with the secondary objectives of the RaDiCo cohorts. They deal with discovery of new disease genes, assessment of treatment management, deciphering the underlying pathophysiological mechanisms, diagnostic approaches, genotype-phenotype relationships, development and validation of questionnaires relative to disease burden, or methodological aspects.Conclusion: RaDiCo currently hosts 13 RD e-cohorts on a sharable and interoperable platform constructed on the “cloud computing” principle. New RD e-cohorts at the European and international levels are targeted.

show abstract

Pulmonary Fibrosis in Children

Cited by 25 publications

References 84 publications

Age-Dependent Chronic Lung Injury and Pulmonary Fibrosis following Single Exposure to Hydrochloric Acid

Age-Dependent Chronic Lung Injury and Pulmonary Fibrosis following Single Exposure to Hydrochloric Acid

RaDiCo, the French national research program on rare disease cohorts

RaDiCo, the French National Program on Rare Disease Cohorts

Contact Info

Product

Resources

About