scholarly journals OC-074 The Role of the Fungal Microbiota in the Pathogenesis of De-Novo Paediatric Inflammatory Bowel Disease using next Generation Sequencing

Gut ◽  
2013 ◽  
Vol 62 (Suppl 1) ◽  
pp. A32.1-A32 ◽  
Author(s):  
R Hansen ◽  
I Mukhopadhya ◽  
C Meharg ◽  
R Russell ◽  
S Berry ◽  
...  
2019 ◽  
Vol 26 (5) ◽  
pp. 720-727 ◽  
Author(s):  
Sara Lega ◽  
Alessia Pin ◽  
Serena Arrigo ◽  
Cristina Cifaldi ◽  
Martina Girardelli ◽  
...  

Abstract Background and aims Multiple monogenic disorders present as very early onset inflammatory bowel disease (VEO-IBD) or as IBD with severe and atypical features. Establishing a genetic diagnosis may change patients’ management and prognosis. In this study, we describe the diagnostic approach to suspected monogenic IBD in a real clinical setting, discussing genetic and phenotypic findings and therapeutic implications of molecular diagnosis. Methods Information of patients with VEO-IBD and early onset IBD with severe/atypical phenotypes (EO-IBD s/a) managed between 2008–2017 who underwent a genetic workup were collected. Results Ninety-three patients were included, and 12 (13%) reached a genetic diagnosis. Candidate sequencing (CS) was performed in 47 patients (50%), and next generation sequencing (NGS) was performed in 84 patients (90%). Candidate sequencing had a good diagnostic performance only when guided by clinical features specific for known monogenic diseases, whereas NGS helped finding new causative genetic variants and would have anticipated one monogenic diagnosis (XIAP) and consequent bone marrow transplant (BMT). Patients with monogenic IBD more frequently were male (92% vs 54%; P = 0.02), had extraintestinal findings (100% vs 34%; P < 0.001), and had disease onset ≤1 month of life (25% vs 1%; P = 0.006). Genetic diagnosis impacted patient management in 11 patients (92%), 7 of whom underwent BMT. Conclusion A genetic diagnosis can be established in a significant proportion of suspected monogenic IBD and has an impact on patients’ management. Candidate sequencing may be deployed when clinical findings orientate toward a specific diagnosis. Next generation sequencing should be preferred in patients with nonspecific phenotypes.


2015 ◽  
Vol 17 (4) ◽  
pp. 304-310 ◽  
Author(s):  
I. Mukhopadhya ◽  
R. Hansen ◽  
C. Meharg ◽  
J.M. Thomson ◽  
R.K. Russell ◽  
...  

Gut ◽  
2011 ◽  
Vol 60 (Suppl 1) ◽  
pp. A147-A147 ◽  
Author(s):  
R. Hansen ◽  
I. Mukhopadhya ◽  
R. K. Russell ◽  
W. M. Bisset ◽  
S. H. Berry ◽  
...  

2020 ◽  
Vol 14 (Supplement_1) ◽  
pp. S651-S651
Author(s):  
L Zeng ◽  
Y Wang ◽  
M Zhuo

Abstract Background Inflammatory bowel disease(IBD)is chronic relapsing and remitting disease of the gastrointestinal tract. Although the precise aetiology and pathogenesis of IBD remains elusive, epidemiological data conclusively point to be attributed to an aberrant immune response against environmental factors such as the gut microbiota in a genetically susceptible host. The bacterial microbiota plays a major role in human physiology and pathogenesis of IBD. The Fungi are often ignored in studies. Although the role of fungi has been suggested in pathogenesis of IBD, the available data are scarce. The aim of our study was to analyse and compare the faecal fungal microbiota in patients with IBD and healthy subjects (HS). Methods Our study evaluated fungal composition of the faecal microbiota of 66 patients with CD and 38 patients with UC diagnosed in West China Hospital and 39 HS by ITS2 sequencing. The Qiime pipeline was used to assess composition and diversity. Using LEfSe observed differential fungal composition between subjects. Results The faecal fungal microbiota was dominated by two phyla, basidiomycetes and ascomycetes in both IBD and HS. We observed that fungal microbiota was skewed in IBD, with an decreased basidiomycota/ascomycota ratio, a decreased proportion of Aspergillus and Saccharomyces and an increased proportion of Exophiala. Polythrincium, clonostachys, Candida compared with HS. Using LEfSe, we observed several differential fungal composition in different subject. Exophial a (p = 0.02), Agaricales (p = 0.02)species were overrepresented in UC, whereas Bulleribasidiaceae (p = 0.01), Ustilaginaceae (p = 0.007), Ustilaginales (p = 0. 007),Ustilaginomycetes (p = 0.007)species were overrepresented in HS. We then directly compared the fungal composition between subgroup of CD and UC, we observed Eurotiales(p = 0.007), Aspergillus(p = 0.025), Thermoascus(p = 0.04)species were overrepresented in UC-remission. Ascomycota (p = 0.008) and Didymellaceae (p = 0.02)species were associated with CD-remission, whereas Saccharomyces (p = 0.03) and Xylariaceae (p = 0.006) species were associated with CD-flare. There was no significant difference in fungal Alpha diversity between IBD and HS. Beta diversity analysis showed that one subgroup of IBD samples segregated from HS whereas another subgroup overlapped with HS. Conclusion There was no significant change in fungal diversity in IBD. However, we observed fungal composition was skewed with decreased basidiomycota/ascomycota ratio on phyla level, particularly in IBD-flare group. The fungal composition was dominated by Aspergillus and Saccharomyces in HS, while the proportion of Exophiala, Polythrincium, Clonostachys, Candida was increased in IBD on genus level.


2011 ◽  
Vol 140 (5) ◽  
pp. S-512
Author(s):  
Richard Hansen ◽  
Indrani Mukhopadhya ◽  
Richard K. Russell ◽  
William M. Bisset ◽  
Susan H. Berry ◽  
...  

2021 ◽  
Vol 14 ◽  
pp. 175628482110471
Author(s):  
Lin Zhang ◽  
Hui Zhan ◽  
Wenye Xu ◽  
Shuai Yan ◽  
Siew C. Ng

The gut microbiome comprised of microbes from multiple kingdoms, including bacteria, fungi, and viruses. Emerging evidence suggests that the intestinal fungi (the gut “mycobiome”) play an important role in host immunity and inflammation. Advances in next generation sequencing methods to study the fungi in fecal samples and mucosa tissues have expanded our understanding of gut fungi in intestinal homeostasis and systemic immunity in health and their contribution to different human diseases. In this review, the current status of gut mycobiome in health, early life, and different diseases including inflammatory bowel disease, colorectal cancer, and metabolic diseases were summarized.


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