scholarly journals Questioning the Pathogenic Role of the GLA p.Ala143Thr “Mutation” in Fabry Disease: Implications for Screening Studies and ERT

2012 ◽  
pp. 101-108 ◽  
Author(s):  
W. Terryn ◽  
R. Vanholder ◽  
D. Hemelsoet ◽  
B. P. Leroy ◽  
W. Van Biesen ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Pathogenic Role

The pathogenic role of surfactant protein B in formation of bronchopulmonary pathology in children

2017 ◽  
pp. 66-71
Author(s):  
O. Yablon ◽  
◽  
N. Zaichko ◽  
O. Mazulov ◽  
Z.I. Rossokha ◽  
...  
Keyword(s):  
Surfactant Protein ◽  
Pathogenic Role ◽  
Surfactant Protein B ◽  
Protein B

Pathogenic role of CCL2/MCP-1 in scleroderma

10.2741/2875 ◽  
2008 ◽  
Vol 13 (13) ◽  
pp. 2686 ◽  
Author(s):  
Toshiyuki Yamamoto
Keyword(s):  
Pathogenic Role

Pathogenic potential of Parabacteroides distasonis revealed in a splenic abscess case: a truth unfolded

2020 ◽  
Vol 13 (12) ◽  
pp. e236701
Author(s):  
Anitha Gunalan ◽  
Rakhi Biswas ◽  
Balamurugan Sridharan ◽  
Thirthar Palanivelu Elamurugan
Keyword(s):  
Abdominal Pain ◽  
Case Report ◽  
Antimicrobial Therapy ◽  
Splenic Abscess ◽  
Rare Entity ◽  
Normal Flora ◽  
Pathogenic Role ◽  
Pathogenic Potential ◽  
Open Splenectomy

Splenic abscess is a rare entity, however if unrecognised or left untreated, it is invariably fatal. We herein report a case of splenic abscess in a 40-year-old man presenting with fever, left-sided abdominal pain, altered sensorium and vomiting. On clinical examination, hepatosplenomegaly was noted and the ultrasound of the abdomen showed multiple hypoechoic regions in the upper pole of spleen, and the diagnosis of splenic abscess was made. The patient received antimicrobial therapy and underwent an open splenectomy with full recovery. Pus aspirated from the splenic abscess grew an unusual organism named Parabacteroides distasonis. In the literature, there are only a few recorded cases of P. distasonis causing splenic abscess. Through this case report, we would like to emphasise the pathogenic role of P. distasonis in causing clinical disease, as this organism is typically known to constitute a part of the normal flora.

scholarly journals Experimental evidence of pathogenic role of IgG autoantibodies in IgA nephropathy

2021 ◽  
Vol 118 ◽  
pp. 102593
Author(s):  
Zina Moldoveanu ◽  
Hitoshi Suzuki ◽  
Colin Reily ◽  
Kenji Satake ◽  
Lea Novak ◽  
...  
Keyword(s):  
Experimental Evidence ◽  
Iga Nephropathy ◽  
Pathogenic Role

scholarly journals Therapeutic Role of Tocilizumab in SARS-CoV-2-Induced Cytokine Storm: Rationale and Current Evidence

2021 ◽  
Vol 22 (6) ◽  
pp. 3059
Author(s):  
Corrado Pelaia ◽  
Cecilia Calabrese ◽  
Eugenio Garofalo ◽  
Andrea Bruni ◽  
Alessandro Vatrella ◽  
...  
Keyword(s):  
Review Article ◽  
Lung Damage ◽  
Current Evidence ◽  
Therapeutic Effects ◽  
Cytokine Storm ◽  
Future Perspectives ◽  
Pathogenic Role ◽  
Refractory Rheumatoid Arthritis ◽  
Life Threatening

Among patients suffering from coronavirus disease 2019 (COVID-19) syndrome, one of the worst possible scenarios is represented by the critical lung damage caused by the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2)-induced cytokine storm, responsible for a potentially very dangerous hyperinflammatory condition. Within such a context, interleukin-6 (IL-6) plays a key pathogenic role, thus being a suitable therapeutic target. Indeed, the IL-6-receptor antagonist tocilizumab, already approved for treatment of refractory rheumatoid arthritis, is often used to treat patients with severe COVID-19 symptoms and lung involvement. Therefore, the aim of this review article is to focus on the rationale of tocilizumab utilization in the SARS-CoV-2-triggered cytokine storm, as well as to discuss current evidence and future perspectives, especially with regard to ongoing trials referring to the evaluation of tocilizumab’s therapeutic effects in patients with life-threatening SARS-CoV-2 infection.

scholarly journals FOXO1 mitigates the SMAD3/FOXL2C134W transcriptomic effect in a model of human adult granulosa cell tumor

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Christian Secchi ◽  
Paola Benaglio ◽  
Francesca Mulas ◽  
Martina Belli ◽  
Dwayne Stupack ◽  
...  
Keyword(s):  
Granulosa Cell ◽  
Chromatin Remodeling ◽  
Granulosa Cell Tumor ◽  
Cell Tumor ◽  
Rna Seq ◽  
Pathogenic Role ◽  
Rare Type ◽  
Cellular Models ◽  
Genome Wide

Abstract Background Adult granulosa cell tumor (aGCT) is a rare type of stromal cell malignant cancer of the ovary characterized by elevated estrogen levels. aGCTs ubiquitously harbor a somatic mutation in FOXL2 gene, Cys134Trp (c.402C < G); however, the general molecular effect of this mutation and its putative pathogenic role in aGCT tumorigenesis is not completely understood. We previously studied the role of FOXL2C134W, its partner SMAD3 and its antagonist FOXO1 in cellular models of aGCT. Methods In this work, seeking more comprehensive profiling of FOXL2C134W transcriptomic effects, we performed an RNA-seq analysis comparing the effect of FOXL2WT/SMAD3 and FOXL2C134W/SMAD3 overexpression in an established human GC line (HGrC1), which is not luteinized, and bears normal alleles of FOXL2. Results Our data shows that FOXL2C134W/SMAD3 overexpression alters the expression of 717 genes. These genes include known and novel FOXL2 targets (TGFB2, SMARCA4, HSPG2, MKI67, NFKBIA) and are enriched for neoplastic pathways (Proteoglycans in Cancer, Chromatin remodeling, Apoptosis, Tissue Morphogenesis, Tyrosine Kinase Receptors). We additionally expressed the FOXL2 antagonistic Forkhead protein, FOXO1. Surprisingly, overexpression of FOXO1 mitigated 40% of the altered genome-wide effects specifically related to FOXL2C134W, suggesting it can be a new target for aGCT treatment. Conclusions Our transcriptomic data provide novel insights into potential genes (FOXO1 regulated) that could be used as biomarkers of efficacy in aGCT patients.

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