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https://www.readbyqxmd.com/read/29138824/genetic-mutational-testing-of-chinese-children-with-familial-hematuria-with-biopsy%C3%A2-proven-fsgs
#1
Yongzhen Li, Ying Wang, Qingnan He, Xiqiang Dang, Yan Cao, Xiaochuan Wu, Shuanghong Mo, Xiaoxie He, Zhuwen Yi
Focal segmental glomerulosclerosis (FSGS) is a pathological lesion rather than a disease, with a diverse etiology. FSGS may result from genetic and non‑genetic factors. FSGS is considered a podocyte disease due to the fact that in the majority of patients with proven‑FSGS, the lesion results from defects in the podocyte structure or function. However, FSGS does not result exclusively from podocyte‑associated genes, however also from other genes including collagen IV‑associated genes. Patients who carry the collagen type IVA3 chain (COL4A3) or COL4A4 mutations usually exhibit Alport Syndrome (AS), thin basement membrane neuropathy or familial hematuria (FH)...
November 10, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29135832/prognostic-value-of-the-persistence-of-c1q-binding-anti-hla-antibodies-in-acute-antibody-mediated-rejection-in-kidney-transplantation
#2
Elodie Bailly, Dany Anglicheau, Gilles Blancho, Philippe Gatault, Vincent Vuiblet, Valérie Chatelet, Emmanuel Morelon, Paolo Malvezzi, Anne Parissiadis, Jérôme Tourret, Gwendaline Guidicelli, Johnny Sayegh, Christiane Mousson, Philippe Grimbert, Isabelle Top, Moglie Le Quintrec, Raj Purgus, Pierre François Westeel, Barbara Proust, Valérie Chabot, Yvon Lebranchu, Frédéric Dehaut, Matthias Büchler
BACKGROUND: The differential pathogenicity of anti-HLA donor-specific antibodies (DSAs) is not fully understood. The presence of complement-binding DSAs help better defining the prognosis of acute antibody-mediated rejection (ABMR). The evolution of these antibodies after the treatment of ABMR is unknown. METHODS: We included patients from the French multicenter RITUX ERAH study diagnosed with acute antibody-mediated rejection (ABMR) within the first year of renal transplantation, with circulating anti-HLA DSAs and treated randomly by rituximab or placebo (and intravenous immunoglobulins, plasma exchange)...
November 13, 2017: Transplantation
https://www.readbyqxmd.com/read/29131116/detection-of-a-splice-site-variant-in-a-patient-with-glomerulopathy-and-fibronectin-deposits
#3
Yurika Tsuji, Kandai Nozu, Tadashi Sofue, Shigeo Hara, Keita Nakanishi, Tomohiko Yamamura, Shogo Minamikawa, Yoshimi Nozu, Hiroshi Kaito, Junya Fujimura, Tomoko Horinouchi, Naoya Morisada, Ichiro Morioka, Mariko Taniguchi-Ikeda, Masafumi Matsuo, Kazumoto Iijima
BACKGROUND/AIMS: Glomerulopathy with fibronectin deposits (GFND; OMIM: 601894) is a very rare inherited kidney disease caused by pathogenic variants in the FN1 gene. Only 9 exonic pathogenic variants in FN1, 9 at the heparin-binding site, and 1 at the integrin-binding site have been reported. No intronic variants in FN1 have been detected. METHODS: We found a pathogenic intronic variant in intron 36 (c.5888-2A>G) located at the heparin-binding site. To determine whether this mutation influences splicing processes, we conducted RT-PCR analysis and an in vitro splicing assay using minigene construction...
November 3, 2017: Nephron
https://www.readbyqxmd.com/read/29114004/dysproteinemias-and-glomerular-disease
#4
Nelson Leung, Maria E Drosou, Samih H Nasr
Dysproteinemia is characterized by the overproduction of an Ig by clonal expansion of cells from the B cell lineage. The resultant monoclonal protein can be composed of the entire Ig or its components. Monoclonal proteins are increasingly recognized as a contributor to kidney disease. They can cause injury in all areas of the kidney, including the glomerular, tubular, and vascular compartments. In the glomerulus, the major mechanism of injury is deposition. Examples of this include Ig amyloidosis, monoclonal Ig deposition disease, immunotactoid glomerulopathy, and cryoglobulinemic GN specifically from types 1 and 2 cryoglobulins...
November 7, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29110886/the-incidence-of-primary-vs-secondary-focal-segmental-glomerulosclerosis-a-clinicopathologic-study
#5
Musab S Hommos, An S De Vriese, Mariam P Alexander, Sanjeev Sethi, Lisa Vaughan, Ladan Zand, Kharmen Bharucha, Nicola Lepori, Andrew D Rule, Fernando C Fervenza
OBJECTIVES: To describe the change in the incidence rates of primary and secondary focal segmental glomerulosclerosis (FSGS) from 1994 through 2013 in Olmsted County, Minnesota, and to identify the clinical and biopsy characteristics that distinguish primary from secondary FSGS. PATIENTS AND METHODS: Olmsted County adult residents with native kidney biopsy from January 1, 1994, through December 31, 2013, and FSGS as the only glomerulopathy were identified. The clinical and pathologic characterstics of primary and secondary FSGS were described and compared, and incidence rates were calculated...
October 27, 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29098140/mpgn-and-mixed-cryoglobulinemia-in-a-patient-with-hepatitis-c-new-treatment-implications-and-renal-outcomes
#6
Shannon B Palombo, Eric C Wendel, Laura R Kidd, Farshid Yazdi, Mihran V Naljayan
. INTRODUCTION: The association of hepatitis C virus (HCV), cryoglobulinemia, and membranoproliferative glomerulonephritis (MPGN) is well known. Treatment of underlying HCV infection has greatly improved in recent years with the introduction of direct-acting antivirals (DAA), which have demonstrated curative sustained viral response (SVR) rates for select viral genotypes with the added benefit of less drug side effects. However, a mainstay of newer DAAs is sofosbuvir, which is contraindicated in patients with severe renal impairment...
2017: Clin Nephrol Case Stud
https://www.readbyqxmd.com/read/29070572/glucagon-like-peptide-1-analog-prevents-obesity-related-glomerulopathy-by-inhibiting-excessive-autophagy-in-podocytes
#7
HongLei Guo, Bin Wang, HongMei Li, LiLu Ling, Jianying Niu, Yong Gu
AIM: To investigate the role of glucagon-like peptide-1 analog (GLP-1) in high fat diet-induced obesity-related glomerulopathy (ORG). METHODS: Male C57BL/6 mice fed a high fat diet for 12 weeks were treated with GLP-1 (200 μg/kg) or 0.9% saline for 4 weeks. Fasting blood glucose and insulin and the expression of podocin, nephrin, phosphoinositide 3-kinase (PI3K), glucose transporter type (Glut4), and microtubule-associated protein 1A/1B-light chain 3 (LC3) were assayed...
October 25, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29066598/erratum-deletion-of-p66-shc-longevity-gene-protects-against-experimental-diabetic-glomerulopathy-by-preventing-diabetes-induced-oxidative-stress-diabetes-2006-55-1642-1650
#8
Stefano Menini, Lorena Amadio, Giovanna Oddi, Carlo Ricci, Carlo Pesce, Francesco Pugliese, Marco Giorgio, Enrica Migliaccio, PierGiuseppe Pelicci, Carla Iacobini, Giuseppe Pugliese
No abstract text is available yet for this article.
October 24, 2017: Diabetes
https://www.readbyqxmd.com/read/29064181/a-mayo-clinic-13-year-investigation-of-the-syndrome-of-rapid-onset-esrd-among-renal-transplant-recipients-an-analysis-of-the-implications-of-renal-allograft-biopsy-results
#9
REVIEW
Macaulay Amechi Onuigbo, Nneoma Agbasi
INTRODUCTION: We first described the syndrome of rapid onset end stage renal disease (SORO-ESRD), acute yet irreversible renal failure, in 2010. OBJECTIVE: The impact of SORO-ESRD renal allograft survival remains speculative and we plan to study this question. METHODS: A retrospective analysis of individual adult patient-level serum creatinine trajectories of ESRD patients on maintenance hemodialysis for >90 days at Mayo Clinic, Rochester, 2001-2013...
October 2017: Hemodialysis International
https://www.readbyqxmd.com/read/29055354/ajkd-atlas-of-renal-pathology-fibronectin-glomerulopathy
#10
Mark A Lusco, Yi-Pu Chen, Hong Cheng, Hong-Rui Dong, Behzad Najafian, Charles E Alpers, Agnes B Fogo
No abstract text is available yet for this article.
November 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29052785/erratum-to-c3-glomerulopathy-and-current-dilemmas
#11
Naoko Ito, Ryuji Ohashi, Michio Nagata
The article, "C3 glomerulopathy and current dilemmas", written by Naoko Ito, Ryuji Ohashi and Michio Nagata was originally published electronically on the publisher's internet portal (currently SpringerLink) on November 23, 2016 without open access.
October 20, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29045942/quantitative-renal-echogenicity-as-a-tool-for-diagnosis-of-advanced-chronic-kidney-disease-in-patients-with-glomerulopathies-and-no-liver-disease
#12
Alexandre B Libório, Fernanda Macedo de Oliveira Neves, Candice Bezerra Torres de Melo, Tacyano Tavares Leite, Renata de Almeida Leitão
BACKGROUND/AIMS: Glomerulopathy patients are prone to developing transitory reduced glomerular filtration rate (GFR), which can be difficult to differentiate from irreversible chronic kidney disease (CKD). Renal ultrasound can be useful, but differently from renal length, quantitative renal echogenicity has not been formerly evaluated regarding its capacity to identify irreversible advanced CKD. METHODS: A prospective study was performed, where quantitative renal echogenicity was performed during renal biopsy in patients with suspected glomerular disease (n=197)...
October 18, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29038887/mutations-in-inf2-may-be-associated-with-renal-histology-other-than-focal-segmental-glomerulosclerosis
#13
Anja K Büscher, Nora Celebi, Peter F Hoyer, Hanns-Georg Klein, Stefanie Weber, Julia Hoefele
BACKGROUND: In 2010, INF2 mutations were associated with autosomal-dominant focal segmental glomerulosclerosis (FSGS), clinically presenting with moderate proteinuria in adolescence. However, in the meantime, cases with more severe clinical courses have been described, including progression to end-stage renal disease (ESRD) during childhood. INF2 mutations in patients with isolated FSGS are clustered in exons 2 to 4, encoding the diaphanous inhibitory domain, involved in the regulation of the podocyte actin cytoskeleton...
October 6, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29030465/cluster-analysis-identifies-distinct-pathogenetic-patterns-in-c3-glomerulopathies-immune-complex-mediated-membranoproliferative-gn
#14
Paraskevas Iatropoulos, Erica Daina, Manuela Curreri, Rossella Piras, Elisabetta Valoti, Caterina Mele, Elena Bresin, Sara Gamba, Marta Alberti, Matteo Breno, Annalisa Perna, Serena Bettoni, Ettore Sabadini, Luisa Murer, Marina Vivarelli, Marina Noris, Giuseppe Remuzzi
Membranoproliferative GN (MPGN) was recently reclassified as alternative pathway complement-mediated C3 glomerulopathy (C3G) and immune complex-mediated membranoproliferative GN (IC-MPGN). However, genetic and acquired alternative pathway abnormalities are also observed in IC-MPGN. Here, we explored the presence of distinct disease entities characterized by specific pathophysiologic mechanisms. We performed unsupervised hierarchical clustering, a data-driven statistical approach, on histologic, genetic, and clinical data and data regarding serum/plasma complement parameters from 173 patients with C3G/IC-MPGN...
October 13, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29027535/transplant-glomerulopathy
#15
REVIEW
Edward J Filippone, Peter A McCue, John L Farber
In the renal allograft, transplant glomerulopathy represents a morphologic lesion and not a specific diagnosis. The hallmark pathologic feature is glomerular basement membrane reduplication by light microscopy or electron microscopy in the absence of immune complex deposits. Transplant glomerulopathy results from chronic, recurring endothelial cell injury that can be mediated by HLA alloantibodies (donor-specific antibodies), various autoantibodies, cell-mediated immune injury, thrombotic microangiopathy, or chronic hepatitis C...
October 13, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29027517/-unexpected-symptoms-of-monoclonal-gammopathy
#16
P M Smit, A C Abrahams, R G E Schutgens, N C Notermans, M C Minnema
Monoclonal gammopathy of undetermined significance (MGUS) is a common haematological disorder characterized by the presence of a monoclonal protein (M-protein). MGUS is considered an asymptomatic 'innocent' pre-malignant precursor condition of - mostly - multiple myeloma, without indication for treatment. We present three cases illustrating that MGUS can lead to serious problems. The first patient, a 51-year-old female, presented with polyneuropathy due to anti-MAG antibodies related to IgM MGUS. The second patient, a 37-year-old female, presented with proteinuria due to immunotactoid glomerulopathy caused by renal monoclonal IgG deposition associated with MGUS...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/29021446/nephrotic-syndrome-and-a-retroperitoneal-mass-a-case-report-of-a-patient-with-recurrent-invasive-thymoma
#17
Hiroaki Myoga, Tetsu Akimoto, Naoko Mato, Takakiyo Nakaya, Takuya Murakami, Hiromichi Yoshizawa, Saki Nakagawa, Atsushi Miki, Takahiro Masuda, Takahisa Kobayashi, Yuko Ono, Osamu Saito, Yoshihiko Ueda, Shigeaki Muto, Daisuke Nagata
A 68-year-old man was admitted to our hospital to undergo an examination for nephrotic syndrome while concurrently complicated with recurrent thymoma in the parietal pleura and retroperitoneum. He had been diagnosed with invasive thymoma and had undergone thymo-thymectomy seven years previously. Based on the renal biopsy findings, his nephrotic syndrome was ascribed to minimal change disease. He was treated with corticosteroid monotherapy, which resulted in complete remission six months later, despite the fact that the recurrent thymoma remained...
October 11, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29019954/weight-loss-in-advanced-chronic-kidney-disease-should-we-consider-individualised-qualitative-ad-libitum-diets-a-narrative-review-and-case-study
#18
REVIEW
Capizzi Irene, Teta Luigi, Vigotti Federica Neve, Tognarelli Giuliana, Consiglio Valentina, Scognamiglio Stefania, Piccoli Giorgina Barbara
In advanced chronic kidney disease, obesity may bring a survival advantage, but many transplant centres demand weight loss before wait-listing for kidney graft. The case here described regards a 71-year-old man, with obesity-related glomerulopathy; referral data were: weight 110 kg, Body Mass Index (BMI) 37 kg/m², serum creatinine (sCr) 5 mg/dL, estimated glomerular filtration rate (eGFR) 23 mL/min, blood urea nitrogen (BUN) 75 mg/dL, proteinuria 2.3 g/day. A moderately restricted, low-protein diet allowed reduction in BUN (45-55 mg/dL) and good metabolic and kidney function stability, with a weight increase of 6 kg...
October 11, 2017: Nutrients
https://www.readbyqxmd.com/read/28992289/transcriptomics-in-kidney-biopsy-is-an-untapped-resource-for-precision-therapy-in-nephrology-a-systematic-review
#19
Francesco Paolo Schena, Ionut Nistor, Claudia Curci
Background: The diagnosis of glomerular diseases is based on the evaluation of histological lesions in renal tissue by means of light and electronic microscopy, and immunofluorescence technique. Frozen and archival formalin-fixed paraffin-embedded kidney biopsies represent a stored resource for high-throughput technologies. Transcriptomics makes it possible to study the whole gene-expression profile of cells and tissues in a specific period and/or condition. The results, whether considered alone or integrated with other omics data, could help to improve existing knowledge about the pathogenetic mechanisms of glomerulopathies...
August 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28988229/studying-kidney-disease-using-tissue-and-genome-engineering-in-human-pluripotent-stem-cells
#20
Elena Garreta, Federico González, Núria Montserrat
Kidney morphogenesis and patterning have been extensively studied in animal models such as the mouse and zebrafish. These seminal studies have been key to define the molecular mechanisms underlying this complex multistep process. Based on this knowledge, the last 3 years have witnessed the development of a cohort of protocols allowing efficient differentiation of human pluripotent stem cells (hPSCs) towards defined kidney progenitor populations using two-dimensional (2D) culture systems or through generating organoids...
October 7, 2017: Nephron
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