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2022 ◽  
Vol 12 ◽  
Author(s):  
Verena Endmayr ◽  
Cansu Tunc ◽  
Lara Ergin ◽  
Anna De Rosa ◽  
Rosa Weng ◽  
...  

BackgroundIgG4 is associated with two emerging groups of rare diseases: 1) IgG4 autoimmune diseases (IgG4-AID) and 2) IgG4-related diseases (IgG4-RLD). Anti-neuronal IgG4-AID include MuSK myasthenia gravis, LGI1- and Caspr2-encephalitis and autoimmune nodo-/paranodopathies (CNTN1/Caspr1 or NF155 antibodies). IgG4-RLD is a multiorgan disease hallmarked by tissue-destructive fibrotic lesions with lymphocyte and IgG4 plasma cell infiltrates and increased serum IgG4 concentrations. It is unclear whether IgG4-AID and IgG4-RLD share relevant clinical and immunopathological features.MethodsWe collected and analyzed clinical, serological, and histopathological data in 50 patients with anti-neuronal IgG4-AID and 19 patients with IgG4-RLD.ResultsA significantly higher proportion of IgG4-RLD patients had serum IgG4 elevation when compared to IgG4-AID patients (52.63% vs. 16%, p = .004). Moreover, those IgG4-AID patients with elevated IgG4 did not meet the diagnostic criteria of IgG4-RLD, and their autoantibody titers did not correlate with their serum IgG4 concentrations. In addition, patients with IgG4-RLD were negative for anti-neuronal/neuromuscular autoantibodies and among these patients, men showed a significantly higher propensity for IgG4 elevation, when compared to women (p = .005). Last, a kidney biopsy from a patient with autoimmune paranodopathy due to CNTN1/Caspr1-complex IgG4 autoantibodies and concomitant nephrotic syndrome did not show fibrosis or IgG4+ plasma cells, which are diagnostic hallmarks of IgG4-RLD.ConclusionOur observations suggest that anti-neuronal IgG4-AID and IgG4-RLD are most likely distinct disease entities.


2022 ◽  
Vol 31 (163) ◽  
pp. 210100
Author(s):  
Meera Ragavan ◽  
Manali I. Patel

In stark contrast to a few decades ago when lung cancer was predominantly a disease of men who smoke, incidence rates of lung cancer in women are now comparable to or higher than those in men and are rising alarmingly in many parts of the world. Women face a unique set of risk factors for lung cancer compared to men. These include exogenous exposures including radon, prior radiation, and fumes from indoor cooking materials such as coal, in addition to endogenous exposures such as oestrogen and distinct genetic polymorphisms. Current screening guidelines only address tobacco use and likely underrepresent lung cancer risk in women. Women were also not well represented in some of the landmark prospective studies that led to the development of current screening guidelines. Women diagnosed with lung cancer have a clear mortality benefit compared to men even when other clinical and demographic characteristics are accounted for. However, there may be sex-based differences in outcomes and side effects of systemic therapy, particularly with chemotherapy and immunotherapy. Ongoing research is needed to better investigate these differences to address the rapidly changing demographics of lung cancer worldwide.


Author(s):  
Celia Boukadida ◽  
Blanca Taboada ◽  
Marina Escalera-Zamudio ◽  
Pavel Isa ◽  
José Ernesto Ramírez-González ◽  
...  

The genetic association of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) with different clinical conditions remains unclear and needs further investigation. In this study, we characterized 57 complete SARS-CoV-2 genomes from patients in Mexico with distinct disease severity outcomes: mild disease or ambulatory care, severe disease or hospitalized, and deceased.


2021 ◽  
Author(s):  
Nathalia Beatriz Ramos de Sá ◽  
Milena Neira-Goulart ◽  
Marcelo Ribeiro-Alves ◽  
Kim Mattos Geraldo ◽  
Maria Pia Diniz Ribeiro ◽  
...  

Abstract Background COVID-19 has a broad spectrum of clinical manifestations, from asymptomatic to mild or moderate symptoms, reaching the most severe forms and death. The mechanisms underlying the SARS-CoV-2 infection and its clinical evolution are still unclear. Once SARS-CoV-2 infects individuals, host factors are activated by the presence of the virus inside the cells, such as the inflammasome system. The search of risk factors for COVID-19 is of relevance for clinical management. In this study, we investigated the impact of 11 single-base polymorphisms (SNPs) in the NLRP3, CARD8, AIM2, CASP-1, IFI16, and IL-1β inflammasome genes in SARS-CoV-2 infected individuals with distinct disease outcomes. Methods Patients were divided into two groups: (1) inpatients, with severe/critical disease (Hospitalized group, n=451), and (2) convalescent volunteers with prior SARS-CoV-2 infection and a history of asymptomatic to mild symptoms (Mild group, n=43). Patients hospitalized were followed up at a Hospital Center for COVID-19 Pandemic – National Institute of Infectology (INI)/FIOCRUZ, Rio de Janeiro, Brazil, from June 2020 to March 2021. The Mild group was recruited at Oswaldo Cruz Institute (IOC)/FIOCRUZ, Rio de Janeiro, Brazil, in 2020. Genotyping of the SNPs was determined by Real-Time PCR. Protection and risk estimations were performed by unconditional logistic regression models. Results Among the genotyped SNPs, significant differences in the NLRP3 rs1539019 and rs10754558 frequencies were observed between the groups. The C/C genotype (ORadj=6.31; Padj=0.026) or allele C (ORadj=1.05; Padj=0.002) in rs1539019 polymorphism were associated with the risk for hospitalization, while the C/G genotype (ORadj=0.16; Padj=0.016) or carrier-G (ORadj=0.2; Padj=0.028) in rs10754558 polymorphism were associated with protection for hospitalization. Regarding the NLRP3 genetic variants, the A-C-G-C-G haplotype (ORadj=0.14; Padj= 0.030) was associated with protection for hospitalization. No significant association was observed for the other polymorphisms. Conclusions As of our knowledge, this is the first study demonstrating the association of inflammasome NLRP3 variants with risk and/or protection for hospitalization in COVID-19. Studies linking the NLRP3 inflammasome and SARS-CoV-2 infection are still scarce due to the recent emergence of this pathogen. Our results contribute to the discussion of the impact of inflammasomes in the clinical evolution of COVID-19.


2021 ◽  
Author(s):  
Jamie L Marshall ◽  
Teia Noel ◽  
Qingbo S Wang ◽  
Silvana Bazua-Valenti ◽  
Haiqi Chen ◽  
...  

High resolution spatial transcriptomics is a transformative technology that enables mapping of RNA expression directly from intact tissue sections; however, its utility for the elucidation of disease processes and therapeutically actionable pathways remain largely unexplored. Here we applied Slide-seqV2 to mouse and human kidneys, in healthy and in distinct disease paradigms. First, we established the feasibility of Slide-seqV2 in human kidney by analyzing tissue from 9 distinct donors, which revealed a cell neighborhood centered around a population of LYVE1+ macrophages. Second, in a mouse model of diabetic kidney disease, we detected changes in the cellular organization of the spatially-restricted kidney filter and blood flow regulating apparatus. Third, in a mouse model of a toxic proteinopathy, we identified previously unknown, disease-specific cell neighborhoods centered around macrophages. In a spatially-restricted subpopulation of epithelial cells, we also found perturbations in 77 genes associated with the unfolded protein response (UPR). Our studies illustrate and experimentally validate the utility of Slide-seqV2 for the discovery of disease-specific cell neighborhoods.


2021 ◽  
Author(s):  
Verena Endmayr ◽  
Cansu Tunc ◽  
Lara Ergin ◽  
Anna de Rosa ◽  
Rosa Weng ◽  
...  

Background: IgG4 is associated with two emerging groups of rare diseases: 1) IgG4 autoimmune diseases (IgG4-AID) and 2) IgG4-related diseases (IgG4-RLD). Anti-neuronal IgG4-AID include MuSK myasthenia gravis, LGI1- and Caspr2-encephalitis and autoimmune nodo-/paranodopathies (CNTN1 or NF155 antibodies). IgG4-RLD is a multiorgan disease hallmarked by tissue-destructive fibrotic lesions with lymphocyte and IgG4 plasma cell infiltrates and increased serum IgG4 concentrations. It is unclear, whether IgG4-AID and IgG4-RLD share relevant clinical and immunopathological features. Methods: We collected and analysed serological, clinical, and histopathological data in 50 patients with anti-neuronal IgG4-AID and 16 patients with IgG4-RLD. Results: A significantly higher proportion of IgG4-RLD patients had serum IgG4 elevation when compared to IgG4-AID patients (50% vs. 16%, p = .015). Moreover, those IgG4-AID patients with elevated IgG4 did not meet the diagnostic criteria of IgG4-RLD, and their autoantibody titres did not correlate with their serum IgG4 concentrations. In addition, patients with IgG4-RLD were negative for anti-neuronal/neuromuscular autoantibodies and among these patients, men showed a significantly higher propensity for IgG4 elevation, when compared to women (p = .041). Last, a kidney biopsy from a patient with autoimmune paranodopathy due to CNTN1/Caspr1-complex IgG4 autoantibodies and concomitant nephrotic syndrome did not show fibrosis or IgG4+ plasma cells, which are diagnostic hallmarks of IgG4-RLD. Conclusion: Our observations suggest that anti-neuronal IgG4-AID and IgG4-RLD are most likely distinct disease entities.


2021 ◽  
Vol 28 (4) ◽  
pp. 176-182
Author(s):  
Jinhyun Kim ◽  
Jung Hee Koh ◽  
Sung Jae Choi ◽  
Chan Hong Jeon ◽  
Seung-Ki Kwok ◽  
...  

2021 ◽  
Vol 30 (3) ◽  
pp. 121-124
Author(s):  
Alexandra Constantinescu ◽  
◽  
Claudia Cobilinschi ◽  
Elena Gradinaru ◽  
Ioana Saulescu ◽  
...  

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease, characterized by multiorgan involvement, most commonly targeting the skin, joints and kidneys. Late-onset disease occurs in patients over the age of 50 and represents a diagnostic challenge, as it is less frequently encountered and it may exhibit a more unusual clinical and paraclinical picture. The aim of this paper is to highlight two cases of SLE diagnosed in female patients of considerably advanced ages, 81 and 72 years respectively, in order to enhance physician awareness with regard to this distinct disease subtype.


2021 ◽  
Author(s):  
Jianing Guo ◽  
XiaoFei Lv ◽  
Bin He ◽  
Pu Wang ◽  
Shenglai Liu ◽  
...  

Abstract BackgroundRenal cell carcinoma (RCC) was not a single disease, many efforts have been devoted to identifying RCC subtypes on the basis of genomic profiling, but none has classified immunogenomic profiling based on therapeutic responses in RCC subtypes.MethodsTumors from RCC patients from The Cancer Genome Atlas (TCGA) cohort were analyzed, and genomic profiling was performed. We classified RCC on the basis of the immunogenomic profiling of 29 immune signatures.ResultsWe investigated the transcriptional changes of three RCC subtypes by RNA-seq. Gene ontology (GO) identify specific gene signatures differed significantly between KIRC, KIRP and KICH related to the distinct pathways. Site of origin within the nephron was one major determinant in the molecular and immune classification, reflecting differences between three subtypes. The Immunity High KIRC and KIRP subtype was enriched not only in immune signatures, but also including PD-L1 expression signaling, NF-kappa B signaling pathway, JAK-STAT signaling pathway and Cell cycle signaling pathway. KICH was a distinct disease that shared little genomic characteristics with KIRC and KIRP.ConclusionsThe identification of RCC subtypes based on immune signatures has potential clinical implications for RCC treatment. It is imaginable that patients with higher immunity subtype of KIRC and KIRP would be more likely to respond to anti-PD-1/ PD-L1 therapy than patients with KICH subtype. CCL21 and CCL25 might be a potential target for KICH therapy.


2021 ◽  
Author(s):  
Prameet Kaur ◽  
Ellora Hui Zhen Chua ◽  
Wen Kin Lim ◽  
Nathan Harmston ◽  
Nicholas S. Tolwinski

AbstractPreviously, we established an optogenetic model to induce Amyloid-β intracellular oligomerization to model distinct disease etiologies (Limet al. 2020). Here we examine the effect of Wnt signaling on Amyloid in this model. We observe that Wnt activation rescues the detrimental effects of Amyloid expression and oligomerization. We analyze the gene expression changes downstream of Wnt that contribute to this rescue and find changes in aging related genes, protein misfolding, metabolism and inflammation. We propose that Wnt expression reduces inflammation through repression of Toll activating factors and confirm that chronic Toll activation reduces lifespan. We propose that the protective effect observed for Lithium treatment functions at least in part through Wnt activation and inhibition of inflammation.


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