Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital.

Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital. Pac Symp Biocomput. 2020;25:575-586 Authors: Crawford DC, Lin J, Cooke Bailey JN, Kinzy T, Sedor JR, O'Toole JF, Bush WS Abstract Return of results is not common in research settings as standards are not yet in place for what to return, how to return, and to whom. As a pioneer of large-scale of return of research results, the Precision Medicine Initiative Cohort now known of All of Us plans to return pharmacogenomic results and variants of clinical significance to its participants starting late 2019. To better understand the local landscape of possibilities regarding return of research results, we assessed the frequency of pathogenic variants and APOL1 renal risk variants in a small diverse cohort of chronic kidney disease patients (CKD) ascertained from a public hospital in Cleveland, Ohio genotyped on the Illumina Infinium MegaEX. Of the 23,720 ClinVar-designated variants directly assayed by the MegaEX, 8,355 (35%) had at least one alternate allele in the 130 participants genotyped. Of these, 18 ClinVar variants deemed pathogenic by multiple submitters with no conflicts in interpretation were distributed across 27 participants. The majority of these pathogenic ClinVar variants (14/18) were associated with autosomal recessive disorders. Of note were four African American carriers of TTR rs76992529 associated ...
Source: Pacific Symposium on Biocomputing - Category: Bioinformatics Tags: Pac Symp Biocomput Source Type: research

Related Links:

Fight Aging! publishes news and commentary relevant to the goal of ending all age-related disease, to be achieved by bringing the mechanisms of aging under the control of modern medicine. This weekly newsletter is sent to thousands of interested subscribers. To subscribe or unsubscribe from the newsletter, please visit: https://www.fightaging.org/newsletter/ Longevity Industry Consulting Services Reason, the founder of Fight Aging! and Repair Biotechnologies, offers strategic consulting services to investors, entrepreneurs, and others interested in the longevity industry and its complexities. To find out m...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Researchers here argue that fibrosis of cardiac tissue is an important contribution to the development of atrial fibrillation in older patients. Fibrosis is a feature of many age-related conditions, a dysfunction in tissue maintenance processes that involves the generation of scar-like deposits of collagen by overactive fibroblasts. This scarring disrupts normal tissue structure and function in many organs, including the heart, and there is no good approved therapy to treat the progression of fibrosis: even slowing it is haphazard and unreliable. This may soon change. Fibrosis appears to be caused to a large degree ...
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
Szewczuk The early asymptomatic stage of glomerular injury is a diagnostic challenge in the course of renal and extra-renal disease, e.g., heart insufficiency. It was found that podocin, a podocyte-specific protein present in the urine, may serve as a biomarker in the diagnosis of glomerular disease in humans and animals including glomerulonephritis, glomerulosclerosis, amyloidosis, or nephropathy. Therefore, there is a need of development of the sensitive and straightforward method of urinary podocin identification. In this work, we report our extended research under the glomerular injury investigation in dogs by app...
Source: Molecules - Category: Chemistry Authors: Tags: Article Source Type: research
In conclusion, we show here that sEVs are responsible for mediating paracrine senescence and speculate that they could be involved in inducing bystander senescence during therapy-induced senescence or aging. In fact, when compared to soluble factors, sEVs have different biophysical and biochemical properties as they have a longer lifespan than do soluble factors and they are more resistant to protease degradation. The idea that blocking sEV secretion could be a potential therapeutic approach to alleviate senescence "spreading" during chemotherapy-induced senescence or in aging tissues presents itself as a very at...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Authors: Chen L, Luodelete M, Dong C, Li B, Zhang W, Nie P, Liu J, Chen X, Luo P Abstract Background: To investigate the pathological spectrum of glomerular disease in patients with renal insufficiency (RI) from 2008 to 2017. Methods and results: We calculated the estimated glomerular filtration rate (eGFR) with the Chronic Kidney Disease Epidemiology Collaboration creatinine (CKD-EPI) equation and defined RI as an eGFR
Source: Renal Failure - Category: Urology & Nephrology Tags: Ren Fail Source Type: research
Acute kidney injury (AKI) is a common complication after allogeneic stem cell transplantation (ASCT); however, its incidence and outcome in patients transplanted for multiple myeloma (MM) is unknown. Our results suggest that AKI occurs with low incidence and reduced severity after ASCT for MM. Prophylactic measures in patients with preexisting –kidney failure may further reduce this risk. AbstractAcute kidney injury (AKI) is a common complication after allogeneic stem cell transplantation; however, its incidence and outcome in patients transplanted for multiple myeloma (MM) is unknown. We evaluated the incidence, sev...
Source: Cancer Medicine - Category: Cancer & Oncology Authors: Tags: ORIGINAL RESEARCH Source Type: research
Authors: Kuragano T, Kida A, Yahiro M, Nakanishi T Abstract BACKGROUND: With the advancement of technology, a dialysis membrane has been developed to achieve the efficient removal of beta-2 microglobulin (β2MG), which could not be removed with previous hemodialysis (HD) membranes. Recently, there has been an increase in the population of elderly chronic kidney disease (CKD) patients with chronic inflammation and malnutrition. The optimal extracorporeal circulation treatment for elderly CKD patients is not certain. SUMMARY: We have reported the clinical advantages, such as improvements in nutritional, infla...
Source: Contributions to Nephrology - Category: Urology & Nephrology Tags: Contrib Nephrol Source Type: research
CONCLUSION: This case shows that renal recovery in AL amyloidosis may be possible and also highlights the importance of continued therapy in order to achieve clonal response and recovery of organ function.
. PMID: 30935458 [PubMed - as supplied by publisher]
Source: Clinical Nephrology - Category: Urology & Nephrology Authors: Tags: Clin Nephrol Source Type: research
Fight Aging! provides a weekly digest of news and commentary for thousands of subscribers interested in the latest longevity science: progress towards the medical control of aging in order to prevent age-related frailty, suffering, and disease, as well as improvements in the present understanding of what works and what doesn't work when it comes to extending healthy life. Expect to see summaries of recent advances in medical research, news from the scientific community, advocacy and fundraising initiatives to help speed work on the repair and reversal of aging, links to online resources, and much more. This content is...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
RAGE is the receptor for advanced glycation end-products (AGEs), the mechanism by which cells react to the presence of AGEs. AGEs are metabolic byproducts that are both created in the body and present in the diet; cooking animal fat produces AGEs, for example. Diets heavy in meat and the related, fun, unhealthy products so prevalent in this modern calorie-packed world of ours are also heavy in AGEs of various sorts. It remains a topic for discussion as to the degree to which dietary AGEs are a problem, however. Do they contribute significantly to the issues caused by AGEs in general, or only in conditions in which metaboli...
Source: Fight Aging! - Category: Research Authors: Tags: Medicine, Biotech, Research Source Type: blogs
More News: Amyloidosis | Bioinformatics | Chronic Kidney Disease | Genetics | Hospitals | Study | Urology & Nephrology