Haptoglobin phenotype among patients with IgA nephropathy: Impact on disease progression and response to treatment

2020 ◽  
Vol 94 (5) ◽  
pp. 252-259
Author(s):  
Nayef Habbashe ◽  
Safa Kinaneh ◽  
Kamal Hassan ◽  
Zaher Armaly
Cancers ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 1969
Author(s):  
Aline Rangel-Pozzo ◽  
Pak Yu ◽  
Sadhana LaL ◽  
Yasmin Asbaghi ◽  
Luiza Sisdelli ◽  
...  

The prognosis of multiple myeloma (MM), an incurable B-cell malignancy, has significantly improved through the introduction of novel therapeutic modalities. Myeloma prognosis is essentially determined by cytogenetics, both at diagnosis and at disease progression. However, for a large cohort of patients, cytogenetic analysis is not always available. In addition, myeloma patients with favorable cytogenetics can display an aggressive clinical course. Therefore, it is necessary to develop additional prognostic and predictive markers for this disease to allow for patient risk stratification and personalized clinical decision-making. Genomic instability is a prominent characteristic in MM, and we have previously shown that the three-dimensional (3D) nuclear organization of telomeres is a marker of both genomic instability and genetic heterogeneity in myeloma. In this study, we compared in a longitudinal prospective study blindly the 3D telomeric profiles from bone marrow samples of 214 initially treatment-naïve patients with either monoclonal gammopathy of undetermined significance (MGUS), smoldering multiple myeloma (SMM), or MM, with a minimum follow-up of 5 years. Here, we report distinctive 3D telomeric profiles correlating with disease aggressiveness and patient response to treatment in MM patients, and also distinctive 3D telomeric profiles for disease progression in smoldering multiple myeloma patients. In particular, lower average intensity (telomere length, below 13,500 arbitrary units) and increased number of telomere aggregates are associated with shorter survival and could be used as a prognostic factor to identify high-risk SMM and MM patients.


Cartilage ◽  
2021 ◽  
Vol 13 (2_suppl) ◽  
pp. 1790S-1801S
Author(s):  
Guglielmo Schiavon ◽  
Gianluigi Capone ◽  
Monique Frize ◽  
Stefano Zaffagnini ◽  
Christian Candrian ◽  
...  

Objective Inflammation plays a central role in the pathophysiology of rheumatic diseases as well as in osteoarthritis. Temperature, which can be quantified using infrared thermography, provides information about the inflammatory component of joint diseases. This systematic review aims at assessing infrared thermography potential and limitations in these pathologies. Design A systematic review was performed on 3 major databases: PubMed, Cochrane library, and Web of Science, on clinical reports of any level of evidence in English language, published from 1990 to May 2021, with infrared thermography used for diagnosis of osteoarthritis and rheumatic diseases, monitoring disease progression, or response to treatment. Relevant data were extracted, collected in a database, and analyzed for the purpose of this systematic review. Results Of 718 screened articles 32 were found to be eligible for inclusion, for a total of 2094 patients. Nine studies reported the application to osteoarthritis, 21 to rheumatic diseases, 2 on both. The publication trend showed an increasing interest in the last decade. Seven studies investigated the correlation of temperature changes with osteoarthritis, 16 with rheumatic diseases, and 2 with both, whereas 2 focused on the pre-post evaluation to investigate treatment results in patients with osteoarthritis and 5 in patients with rheumatic diseases. A correlation was shown between thermal findings and disease presence and stage, as well as the clinical assessment of disease activity and response to treatment, supporting infrared thermography role in the study and management of rheumatic diseases and osteoarthritis. Conclusions The systematic literature review showed an increasing interest in this technology, with several applications in different joints affected by inflammatory and degenerative pathologies. Infrared thermography proved to be a simple, accurate, noninvasive, and radiation-free method, which could be used in addition to the currently available tools for screening, diagnosis, monitoring of disease progression, and response to medical treatment.


2020 ◽  
Vol 76 (1) ◽  
pp. 90-99 ◽  
Author(s):  
Gui-zhen Yu ◽  
Ling Guo ◽  
Jin-feng Dong ◽  
Su-fang Shi ◽  
Li-jun Liu ◽  
...  

2020 ◽  
Vol 9 (8) ◽  
pp. 205846012094278
Author(s):  
Robin Bonomi ◽  
Flora John ◽  
Suketu Patel ◽  
Geoffery Barger ◽  
Natasha Robinette ◽  
...  

In the latest World Health Organization classification of brain tumors, gliomatosis cerebri has been redefined to varying subsets of diffuse gliomas; however, the term is still used to describe gliomas with infiltrative growth into three or more cerebral lobes. These tumors are frequently misdiagnosed and difficult to treat due to their atypical presentation using structural imaging modalities including computed tomography and T1/T2-weighted magnetic resonance imaging (MRI). In this retrospective case series, we compared clinical MRI to amino acid positron emission tomography (PET) to assess the potential value of PET in the assessment of the extent of tumor involvement and in monitoring disease progression. We report the clinical course and serial multimodal imaging findings of four patients. Each patient presented at varying points in disease progression with widespread glioma brain involvement and was evaluated at least once by amino acid PET using alpha-[11C]methyl-L-tryptophan ([11C]-AMT). Increased uptake of [11C]-AMT was detected in a subset of non-enhancing brain lesions and detected tumor invasion before MRI signs of tumor in some regions. Increased uptake of [11C]-AMT was also detected in tumorous regions not detected by perfusion MRI or MR spectroscopy. Metabolic response to treatment was also observed in two patients. Overall, these data are consistent with and expand upon previous reports using other amino acid PET tracers in gliomatosis and show the potential added value of this imaging modality to clinical MRI in the detection and monitoring of these diffusely infiltrative tumors.


CHEST Journal ◽  
2020 ◽  
Vol 158 (4) ◽  
pp. A2046
Author(s):  
Robera Oljira ◽  
Brannen Liang

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 671-671 ◽  
Author(s):  
Jonathan C Strefford ◽  
Helen Parker ◽  
Anton Parker ◽  
Hazel Robinson ◽  
Tracy Chaplin ◽  
...  

Abstract Abstract 671 Chronic lymphocytic leukaemia (CLL) is a heterogeneous disease characterised by a variable clinical course. Chromosomal abnormalities involving 13q14 are the most common genetic alterations in CLL, occurring in ∼60% of cases and when identified as a sole abnormality, are associated with a favourable clinical outcome. A minimally deleted region (MDR), found in most cases, encompasses DLEU2, DLEU1, miR15a and miR16-1. However, recent SNP profiling data showed that 13q deletions extends beyond the MDR and exhibit considerable heterogeneity both in size and location (Ouillette et al, Cancer Res 2008 68(4);1012). Furthermore, this study showed that larger genomic deletions were associated with a higher Rai stage and were enriched in treated patients. To explore this association further, we performed an initial analysis on samples taken at diagnosis from 100 Stage A patients, of whom 50% had stable disease for over 10 years, and on pre-treatment samples from 100 patients enrolled on the LRF CLL4 trial who had either a complete or partial response to fludarabine and cyclophosphamide [n=200] using the Affymetrix SNP6.0 microarray platform. Deletions of 13q were identified in 99/200 patients (49.5%), the majority (94%) of which included a mono- or biallelic deletion of the MDR. The smallest deletion in this series was 130Kb, while the largest was an 82Mb terminal deletion (mean deletion size 7.25Mb). Furthermore, we identified 12 cases with acquired copy number neutral LOH affecting 13q, exclusive in the presence of a bi-allelic deletion of the MDR. In agreement with the previous study we demonstrated that the size and genomic location of the deletions were highly heterogeneous. Common deletion breakpoints within a 1.9Mb region on 13q between genomic locations 48.7 and 50.6Mb defined 42 cases with small deletions. The remaining 57 cases (58%) showed deletions extending further towards the telomere or centromere and defined those cases with a large deletion. The presence of a large 13q deletion at diagnosis was associated with disease progression (p<0.03) and in cases with unmutated VH genes, a median treatment free survival of 3 months compared to 18 months for cases with small deletions (p<0.003). In the CLL4 trial samples, large deletions were associated with partial rather than complete response to treatment (p<0.04). Interestingly, the deletion sub-types defined by Ouillette et al were not associated with disease progression or response to treatment in our series. To extend this observation we designed a series of custom 13q oligonucleotides for multiplex ligation-dependant probe amplification (MLPA) and are in the process of screening an unselected cohort of 500 CLL patients. Of the 50 patients currently screened with MLPA, five cases analyzed with both the SNP6.0 platform and MLPA showed 100% concordance. The remaining 45 cases had a 13q deletion identified by FISH and confirmed the association between 13q deletion size and clinical outcome (Figure, p<0.03). Furthermore, this analysis shows that this association is independent of VH gene mutational status and the presence of an 11q or 17p deletion. These findings suggest that whilst 13q abnormalities are generally associated with a favourable outcome, aberrant expression of gene(s) on 13q outside of the MDR adversely affect outcome. We are currently refining the 13q region associated with adverse outcome to identify causative gene loci. In conclusion, 13q deletion size represents a new biomarker for predicting outcome of CLL, whose target gene(s) could provide new therapeutic strategies.FigureKaplan-Meier survival analysis of time from diagnosis to first treatment for 13q deletion size in cases analyzed by SNP6.0 and MLPA analysis [n=113].Figure. Kaplan-Meier survival analysis of time from diagnosis to first treatment for 13q deletion size in cases analyzed by SNP6.0 and MLPA analysis [n=113]. Disclosures: No relevant conflicts of interest to declare.


2012 ◽  
Vol 7 (5) ◽  
pp. 727-734 ◽  
Author(s):  
Sigrid Lundberg ◽  
Abdul Rashid Qureshi ◽  
Sara Olivecrona ◽  
Iva Gunnarsson ◽  
Stefan H. Jacobson ◽  
...  

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