Rare ILD/DPLD最新文献_第7页

Multidisciplinary team dedicated to suspected heritable pulmonary fibrosis 多学科团队致力于疑似遗传性肺纤维化

Rare ILD/DPLD Pub Date : 2018-09-15 DOI: 10.1183/13993003.congress-2018.pa2233

R. Borie, C. Kannengiesser, S. Amselem, O. Brugière, D. Bouvry, A. Clément, V. Cottin, P. Dieudé, C. Dupin, R. Epaud, L. Gouya, P. Fanen, F. Fontbrune, L. Wémeau-Stervinou, N. Nathan, B. Crestani

引用次数: 4

Functional assessment of newly identified SFTPA1 and SFTPA2 mutations in patients with idiopathic interstitial pneumonia (IIP) and lung cancer 新发现的SFTPA1和SFTPA2突变在特发性间质性肺炎(IIP)和肺癌患者中的功能评估

Rare ILD/DPLD Pub Date : 2018-09-15 DOI: 10.1183/13993003.CONGRESS-2018.PA2235

N. Nathan, M. Legendre, Emilie Filhol-Blin, R. Borie, D. Bouvry, C. Kannengiesser, K. Ahmad, J. Albuisson, N. Allou, K. Borensztajn, Afifaa Butt, B. Copin, V. Cottin, B. Crestani, J. Dalphin, F. Moal, C. Delacourt, P. Vuyst, P. Duquesnoy, V. Giraud, Carine Gomez, L. Gouya, V. Nau, H. Nunes, C. Picard, G. Prévôt, P. Reix, M. Reynaud‐Gaubert, J. Traclet, A. L'hermine, A. Clément, S. Amselem

{"title":"Functional assessment of newly identified SFTPA1 and SFTPA2 mutations in patients with idiopathic interstitial pneumonia (IIP) and lung cancer","authors":"N. Nathan, M. Legendre, Emilie Filhol-Blin, R. Borie, D. Bouvry, C. Kannengiesser, K. Ahmad, J. Albuisson, N. Allou, K. Borensztajn, Afifaa Butt, B. Copin, V. Cottin, B. Crestani, J. Dalphin, F. Moal, C. Delacourt, P. Vuyst, P. Duquesnoy, V. Giraud, Carine Gomez, L. Gouya, V. Nau, H. Nunes, C. Picard, G. Prévôt, P. Reix, M. Reynaud‐Gaubert, J. Traclet, A. L'hermine, A. Clément, S. Amselem","doi":"10.1183/13993003.CONGRESS-2018.PA2235","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.PA2235","url":null,"abstract":"Background: Heterozygous mutations in the SFTPA1 and SFTPA2 genes, encoding the surfactant protein SP-A1 and SP-A2 have been associated with rare forms of familial IIP and lung adenocarcinoma. We previously described 11 new heterozygous SFTPA1 and SFTPA2 variations in 13 unrelated patients including one newborn. The study aims to analyze the pathogenicity of those variations. Methods: We first analyzed the intrafamilial segregation of the identified variations with IIP and lung cancer. The production and the secretion of the mutant proteins were subsequently studied in HEK293T cells transiently expressing the SP-A proteins carrying the variations. Finally, SP-A expression was assessed on lung tissues of the patients. Results: In the studied families (38 adults, 3 children), the variations segregated with either IIP and/or lung cancer (37%) with an incomplete penetrance of the disease phenotype. The mean age at onset of the IIP was 45 years (0-68). Nine of the variations were located in the highly conserved carbohydrate recognition domain of the protein. In vitro, the mutant proteins were produced but their secretion was absent (n=9) or altered (n=2). The lung expression of SP-A studied in 3 unrelated patients showed an increased expression of SP-A in the cytoplasm of hypertrophic type 2 alveolar cells. Discussion and conclusion: The 11 identified SFTPA1 and SFTPA2 variations are pathogenic. They are associated with IIP and with an increased risk of lung cancer. They were identified mainly in adults but also in children. The pathophysiological consequences of their abnormal secretion/expression remain to be elucidated.","PeriodicalId":267660,"journal":{"name":"Rare ILD/DPLD","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126398405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic interstitial lung disease: an unusual case 遗传性间质性肺疾病1例

Rare ILD/DPLD Pub Date : 2018-09-15 DOI: 10.1183/13993003.CONGRESS-2018.PA3022

Marion Gros, A. Becdelièvre, D. Lehalle, C. Delestrain, Annick Le Floch, B. Funalot, P. Fanen, R. Epaud

引用次数: 0

Characterization of the gene network driving the whole lung lavage (WLL) outcome in Pulmonary Alveolar Proteinosis (PAP). 肺泡蛋白沉积症(PAP)中驱动全肺灌洗(WLL)结果的基因网络的表征。

Rare ILD/DPLD Pub Date : 2018-09-15 DOI: 10.1183/13993003.CONGRESS-2018.OA3784

M. Zorzetto, F. Bonella, F. Mariani, Elena Paracchini, Zamir Kadija, M. Grassi, F. Meloni, I. Campo

{"title":"Characterization of the gene network driving the whole lung lavage (WLL) outcome in Pulmonary Alveolar Proteinosis (PAP).","authors":"M. Zorzetto, F. Bonella, F. Mariani, Elena Paracchini, Zamir Kadija, M. Grassi, F. Meloni, I. Campo","doi":"10.1183/13993003.CONGRESS-2018.OA3784","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.OA3784","url":null,"abstract":"Rationale: PAP is a an ultra-rare disease where a perturbation in surfactant homeostasis results in its accumulation within airspaces, thus impairing gas transfer. WLL currently remains the therapeutic standard, even if it may induce complete resolution of the disorder only in 30% of patients. Aim: To characterize the gene network able to predict the outcome of the WLL, i.e. total resolution/persistent improvement vs transient resolution/progressive deterioration. Methods: We conducted a gene interaction network analysis, with web-based software (esyN), to calculate hub and bottleneck genes previously investigated by a microarray analysis (1), performed on the PBMCs of 16 PAP patients treated with WLL and followed for 24 months. Hub genes were identified by the number of interactions within the network. Bottleneck genes were identified by calculating the betweenness centrality index (BCI) for each gene in the network. BCI reflects the amount of control that a gene exerts over the interactions of other genes in the network. Results: We found that SMAD3, which acts as a mediator of the profibrotic signals initiated by TGF-β and SYNCRIP, which plays a role in multiple aspects of mRNA maturation, are top ranked hubs genes. Interestingly, SMAD3 is also the top ranked bottleneck gene. Conclusion: The SMAD3 transcription factor seems to be the central mediator and conductor of the gene network involved in the response to the WLL treatment in PAP patients. 1- M Zorzetto, et al. A gene network to predict the clinical response to whole lung lavage (WLL), in pulmonary alveolar proteinosis (PAP). ERS Annual Congress, Milano, Italy, September 9-13, 2017.","PeriodicalId":267660,"journal":{"name":"Rare ILD/DPLD","volume":"47 1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121154718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Down syndrome and pulmonary hemosiderosis: an under-recognized association 唐氏综合症和肺含铁血黄素沉着:一种未被充分认识的关联

Rare ILD/DPLD Pub Date : 2018-09-15 DOI: 10.1183/13993003.CONGRESS-2018.PA2237

Aurélia Alimi, J. Taytard, R. A. Taam, V. Houdouin, Aude Forgeron, M. L. Lavadera, P. Cros, I. Gibertini, J. Derelle, A. Deschildre, C. Thumerelle, R. Epaud, P. Reix, M. Fayon, S. Roullaud, F. Troussier, M. Renoux, J. Blic, Sophie Leyronnas, G. Thouvenin, C. Perisson, A. Ravel, A. Clément, H. Corvol, N. Nathan

{"title":"Down syndrome and pulmonary hemosiderosis: an under-recognized association","authors":"Aurélia Alimi, J. Taytard, R. A. Taam, V. Houdouin, Aude Forgeron, M. L. Lavadera, P. Cros, I. Gibertini, J. Derelle, A. Deschildre, C. Thumerelle, R. Epaud, P. Reix, M. Fayon, S. Roullaud, F. Troussier, M. Renoux, J. Blic, Sophie Leyronnas, G. Thouvenin, C. Perisson, A. Ravel, A. Clément, H. Corvol, N. Nathan","doi":"10.1183/13993003.CONGRESS-2018.PA2237","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.PA2237","url":null,"abstract":"Introduction: Pulmonary hemosiderosis is a rare cause of interstitial lung disease in children. The French experience had previously highlighted that 20% of the 25 included children also had Down syndrome (DS). In this study populations, the main features of the patients with hemosiderosis were unspecific stigmata of autoimmune disease. This study aims to investigate the relationships between pulmonary hemosiderosis and DS. Material and methods: Patients with pulmonary hemosiderosis followed is one of RespiRare network and younger than 20 years old at diagnosis were selected. The following data were collected : DS status, clinical, biological, functional, and radiological findings. Results: Nine of the 34 included patients (26%) had DS. They were a girl predominance (72%) in the non-DS group, and a male predominance in the DS group (56%). The mean age at the diagnosis was 3.80±3.30 with no significant difference between DS and non-DS patients. DS patients tended to present a more severe form of the disease with more dyspnoea (p=0.03) and more pulmonary arterial hypertension (PAH) (p=0.0003). The 3 (9%) patients who died were DS patients (p=0.0003). Discussion and conclusions: DS seem to be a risk factor for hemosiderosis. Hemosiderosis in DS patients is more severe at presentation, and at follow-up. Several hypotheses can be proposed for such association: an increased fragility of the lung capillary, a higher susceptibility to autoimmune lesions, and a higher risk of chronic hypoxia, leading to PAH. In DS, hemosiderosis should be considered in patients with anaemia of unknown origin.","PeriodicalId":267660,"journal":{"name":"Rare ILD/DPLD","volume":"2016 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132890521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

COPA syndrome restricted to life-threatening alveolar hemorrhages: clinical, pathological, molecular and biological characterization COPA综合征仅限于危及生命的肺泡出血:临床、病理、分子和生物学特征

Rare ILD/DPLD Pub Date : 2018-09-15 DOI: 10.1183/13993003.CONGRESS-2018.PA2236

N. Nathan, M. Legendre, S. Amselem, A. Clément, Emilie Filhol-Blin, N. Richard, S. Roullaud, M. Fayon, G. Rice, D. Duffy, V. Bondet, Aurore Coulomb l’Hermine, B. Neven, M. Frémond, Y. Crow

引用次数: 1

Pleural effusion in patients with IgG4-related disease: new insights from a case series igg4相关疾病患者的胸腔积液:来自病例系列的新见解

Rare ILD/DPLD Pub Date : 2018-09-15 DOI: 10.1183/13993003.CONGRESS-2018.PA2243

O. Wand, Osnat Moreh Rahav, O. Shtraichman, M. Kramer

引用次数: 0

Alveolar hemorrhage syndrome in children 儿童肺泡出血综合征

Rare ILD/DPLD Pub Date : 2018-09-15 DOI: 10.1183/13993003.CONGRESS-2018.PA2239

A. Bogorad, Y. Mizernitsky, Nadejda Rosinova, N. Lev, L. Sokolova, Svetlana Djakova, I. Zorina, Margarita Kostiutchenko

引用次数: 0

Our cases with pulmonary alveolar proteinosis 我们的肺泡蛋白沉积症病例

Rare ILD/DPLD Pub Date : 2018-09-15 DOI: 10.1183/13993003.CONGRESS-2018.PA3018

G. Okumus, Z. Bingol, G. Öcal, E. Kıyan

引用次数: 0

Lung disease caused by non-null ABCA3 mutations: long-term follow-up 非空ABCA3突变引起的肺部疾病:长期随访

Rare ILD/DPLD Pub Date : 2018-09-15 DOI: 10.1183/13993003.congress-2018.pa3020

E. Manali, N. Nathan, C. Kannengiesser, P. Tomos, A. Coulomb-L'Hermine, P. Korkolopoulou, P. Foukas, L. Kolilekas, K. Kagouridis, M. Maniati, S. Argentos, I. Korbila, I. Tomos, Nikolaos Roussakis, M. Kallieri, A. Schams, M. Griese, T. Tsiligiannis, A. Karakatsani, S. Loukides, Georgios N. Koutsocheras, Angeliki Androu, M. Legendre, S. Amselem, R. Borie, B. Crestani, S. Papiris

引用次数: 0