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https://www.readbyqxmd.com/read/29317407/a20-haploinsufficiency-ha20-clinical-phenotypes-and-disease-course-of-patients-with-a-newly-recognised-nf-kb-mediated-autoinflammatory-disease
#1
Florence A Aeschlimann, Ezgi D Batu, Scott W Canna, Ellen Go, Ahmet Gül, Patrycja Hoffmann, Helen L Leavis, Seza Ozen, Daniella M Schwartz, Deborah L Stone, Annet van Royen-Kerkof, Daniel L Kastner, Ivona Aksentijevich, Ronald M Laxer
OBJECTIVES: The association between mutations in TNFAIP3, encoding the NF-kB regulatory protein A20, and a new autoinflammatory disease has recently been recognised. This study aims at describing the clinical phenotypes and disease course of patients with A20 haploinsufficiency (HA20). METHODS: Data for all cases from the initial publication, and additional cases identified through collaborations since, were collected using standardised data collection forms. RESULTS: A total of 16 patients (13 female) from seven families with a genetic diagnosis of HA20 were included...
January 9, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29310419/proliferative-lupus-nephritis-in-the-absence-of-overt-systemic-lupus-erythematosus-a-historical-study-of-12-adult-patients
#2
Maxime Touzot, Cécile Saint-Pastou Terrier, Stanislas Faguer, Ingrid Masson, Hélène François, Lionel Couzi, Aurélie Hummel, Nathalie Quellard, Guy Touchard, Noémie Jourde-Chiche, Jean-Michel Goujon, Eric Daugas
Severe lupus nephritis in the absence of systemic lupus erythematosus (SLE) is a rare condition with an unclear clinical presentation and outcome.We conducted a historical observational study of 12 adult (age >18 years) patients with biopsy-proven severe lupus nephritis or lupus-like nephritis without SLE immunological markers at diagnosis or during follow-up. Excluded were patients with chronic infections with HIV or hepatitis B or C; patients with a bacterial infectious disease; and patients with pure membranous nephropathy...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29249764/lupus-nephritis-with-thymoma-managed-by-thoracoscopic-surgery-and-prednisolone
#3
Takashi Iijima, Junichi Hoshino, Kenmei Takaichi, Tadashi Kohno, Takeshi Fujii, Kenichi Ohashi, Yoshifumi Ubara
A 48-year-old woman was admitted to our hospital to undergo evaluation for fatigue, severe weight loss, and nephrotic range proteinuria. Light microscopy of a renal biopsy specimen revealed class III (A) lupus nephritis, while immunofluorescence and electron microscopy only showed sparse immune deposits with findings that were not typical of lupus nephritis. Computed tomography revealed a mass in the anterior mediastinum, which was resected. The examination of the surgical specimen revealed type A noninvasive thymoma...
2017: Internal Medicine
https://www.readbyqxmd.com/read/29247494/podocyte-and-endothelial-cell-injury-develop-nephrotic-syndrome-in-proliferative-lupus-nephritis
#4
Aya Nawata, Satoshi Hisano, Shohei Shimajiri, Ke-Yong Wang, Yoshiya Tanaka, Toshiyuki Nakayama
AIMS: Nephrotic syndrome (NS) is a major manifestation of lupus nephritis (LN). The dysregulation of podocyte, glomerular basement membrane (GBM) and endothelial cell (EC) develops proteinuria in glomerular diseases. The aim of our study is to clarify whether the dysregulation of these barriers is associated with NS in proliferative LN and membranous LN. METHODS AND RESULTS: Fifty six patients with NS including minimal change NS in 15, primary membranous nephropathy (PMN) in 13, Class III/IV LN in 15 and Class V LN in 13 were enrolled in this study...
December 15, 2017: Histopathology
https://www.readbyqxmd.com/read/29239254/the-relationship-between-cell-apoptosis-dysfunction-and-fen1-e160d-mutation-in-lupus-nephritis-patients
#5
Jing Wang, Ping Cao, Yuan-Yuan Qi, Xue-Ping Chen, Li Ma, Rong-Rong Deng, Li-Li Zhang, Yu Zhao
OBJECTIVE: This study aims to evaluate the role of FEN1 E160D mutation in lupus nephritis (LN) patients with cell apoptosis dysfunction. METHODS: (1) Cell apoptosis was detected from 50 paraffin samples obtained from renal biopsies of patients with Class IV LN by TUNEL method and the relationship of the systemic lupus erythematosus disease activity index 2000 (SLEDAI 2000) and renal tissue cell apoptotic index (AI) was discussed. (2) FEN1 gene 61563142-61563342 containing E160D were analysed by extracting genomic DNA from peripheral blood collected from the above 50 LN patients and 25 patients with nephrectomy caused by renal trauma...
December 2017: Autoimmunity
https://www.readbyqxmd.com/read/29238603/early-proteinuria-response-a-valid-real-life-situation-predictor-of-long-term-lupus-renal-outcome-in-an-ethnically-diverse-group-with-severe-biopsy-proven-nephritis
#6
Michelle R Ugolini-Lopes, Luciana Parente C Seguro, Maitê Xavier F Castro, Danielle Daffre, Alex C Lopes, Eduardo F Borba, Eloisa Bonfá
Objective: Two recent important lupus nephritis trials reported that proteinuria was a good predictor of renal outcome in Caucasians, but data on real-life situation, other races and severe nephritis are lacking to substantiate this finding as a simple test to guide clinical practice. The aim of this study was to validate proteinuria as a predictor of long-term renal outcome in real-life situation in a racially diverse group of patients with severe nephritis. Methods: Proteinuria, serum creatinine (SCr) and urine red blood cells were assessed at baseline and after 3, 6 and 12 months, as early predictors of long-term renal outcome (SCr <1...
2017: Lupus Science & Medicine
https://www.readbyqxmd.com/read/29237099/calcium-channel-blockers-for-primary-and-secondary-raynaud-s-phenomenon
#7
REVIEW
Fadumo Rirash, Paul C Tingey, Sarah E Harding, Lara J Maxwell, Elizabeth Tanjong Ghogomu, George A Wells, Peter Tugwell, Janet Pope
BACKGROUND: Raynaud's phenomenon is a vasospastic disease characterized by digital pallor, cyanosis, and extremity pain. Primary Raynaud's phenomenon is not associated with underlying disease, but secondary Raynaud's phenomenon is associated with connective tissue disorders such as systemic sclerosis, systemic lupus erythematosus, and mixed connective tissue disease. Calcium channel blockers promote vasodilation and are commonly used when drug treatment for Raynaud's phenomenon is required...
December 13, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29227673/crystal-structure-of-cleaved-serp-1-a-myxomavirus-derived-immune-modulating-serpin-structural-design-of-serpin-reactive-center-loop-rcl-peptides-with-improved-therapeutic-function
#8
Brian P Mahon, Sriram Ambadapadi, Jordan R Yaron, Carrie L Lomelino, Melissa A Pinard, Shahar Keinan, Igor Kurnikov, Colin Macaulay, Liqiang Zhang, Westley Reeves, Grant McFadden, Scott Tibbetts, Robert McKenna, Alexandra Lucas
The Myxomavirus-derived protein Serp-1 has potent anti-inflammatory activity in models of vasculitis, lupus, viral sepsis, and transplant. Serp-1 has also been tested successfully in a Phase IIa clinical trial in unstable angina, representing a 'first-in-class' therapeutic. Recently, peptides derived from the reactive center loop (RCL) have been developed as stand-alone therapeutics for reducing vasculitis and improving survival in MHV68-infected mice. However, both Serp-1 and the RCL peptides lose activity in MHV68-infected mice after antibiotic suppression of intestinal microbiota...
December 11, 2017: Biochemistry
https://www.readbyqxmd.com/read/29207757/vitamin-d-levels-and-associations-in-indian-patients-with-primary-sj%C3%A3-gren-s-syndrome
#9
Pulukool Sandhya, Gowri Mahasampath, Puneet Mashru, Joseph Dian Bondu, Victoria Job, Debashish Danda
Introduction: Vitamin D is a steroid hormone belonging to the class of secosteroids with myriad immune functions and has been implicated in aetiopathogenesis of various autoimmune diseases. Although, there have been various studies showing the association of vitamin D in rheumatoid arthritis and lupus in different populations, there have been limited studies on vitamin D and primary Sjögren's Syndrome (pSS). There are no studies on association of vitamin D and pSS from any tropical country including Indian subcontinent...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29194108/epigenetics-of-inflammatory-arthritis
#10
Deepa Hammaker, Gary S Firestein
PURPOSE OF REVIEW: Aberrant epigenetic changes in DNA methylation, histone marks, and noncoding RNA expression regulate the pathogenesis of many rheumatic diseases. The present article will review the recent advances in the epigenetic profile of inflammatory arthritis and discuss diagnostic biomarkers and potential therapeutic targets. RECENT FINDINGS: Methylation signatures of fibroblast-like synoviocytes not only distinguish rheumatoid arthritis (RA) and osteoarthritis (OA), but also early RAs from late RAs or juvenile idiopathic arthritis...
November 30, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/29186572/hydroxycloroquine-blood-concentration-in-lupus-nephritis-a-determinant-of-disease-outcome
#11
Cátia Cunha, Suceena Alexander, Damien Ashby, Janet Lee, Gary Chusney, Tom D Cairns, Liz Lightstone
Background: Hydroxychloroquine (HCQ) is a recommended drug in systemic lupus erythematosus (SLE). It has a long terminal half-life, making it an attractive target for therapeutic drug monitoring. The aim of this study was to establish a relationship between blood HCQ concentration and lupus nephritis activity. Methods: We conducted a retrospective observational study with data collected from clinical and laboratory records. Inclusion criteria were patients followed in the lupus clinic with biopsy-proven International Society of Nephrology/Renal Pathology Society Classes III, IV or V lupus nephritis on HCQ for at least 3 months (200-400 mg daily) and with HCQ levels measured during treatment...
November 23, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29163999/childhood-lupus-nephritis-12-years-of-experience-from-a-developing-country-s-perspective
#12
Moumita Samanta, Madhumita Nandi, Rakesh Mondal, Avijit Hazra, Sumatra Sarkar, Tapas Sabui, Chanchal Kumar Kundu, Arnab Biswas
Objective: To assess the long-term outcome of lupus nephritis in children with systemic lupus erythematosus followed up over 12 years at a tertiary care teaching hospital in Eastern India. Material and Methods: This is a retrospective observational study of the clinicopathological presentation, management, and outcome in 46 children with lupus nephritis over a period of 12 years at a tertiary teaching hospital in Eastern India. Mortality was compared between different lupus classes and therapy groups with Kaplan-Meier analysis and log-rank test...
September 2017: European Journal of Rheumatology
https://www.readbyqxmd.com/read/29136041/profiling-analysis-of-circulating-microrna-in-peripheral-blood-of-patients-with-class-iv-lupus-nephritis
#13
Elkin Navarro-Quiroz, Lisandro Pacheco-Lugo, Roberto Navarro-Quiroz, Hernan Lorenzi, Pierine España-Puccini, Yirys Díaz-Olmos, Lisneth Almendrales, Valeria Olave, Henry Gonzalez-Torres, Anderson Diaz-Perez, Alex Dominguez, Antonio Iglesias, Raul García, Gustavo Aroca-Martinez
Renal involvement in Systemic Lupus Erythematous (SLE) patients is one of the leading causes of morbidity and a significant contributor to mortality. It's estimated that nearly 50% of SLE individuals develop kidney disease in the first year of the diagnosis. Class IV lupus nephritis (LN-IV) is the class of lupus nephritis most common in Colombian patients with SLE. Altered miRNAs expression levels have been reported in human autoimmune diseases including lupus. Variations in the expression pattern of peripheral blood circulating miRNAs specific for this class of lupus nephritis could be correlated with the pathophysiological status of this group of individuals...
2017: PloS One
https://www.readbyqxmd.com/read/29126301/coagulation-testing-in-the-core-laboratory
#14
William E Winter, Sherri D Flax, Neil S Harris
Primary hemostasis begins with endothelial injury. VWF, produced by endothelial cells, binds to platelets and links them to subendothelial collagen. Platelet-derived ADP and thromboxane activate non-adhered platelets via their GPIIb/IIIa receptors, allowing these platelets to participate in platelet aggregation. Secondary hemostasis is initiated with the binding of factor VII to extravascular tissue factor (TF). Factors II, VII, IX and X are vitamin K-dependent factors. The role of vitamin K is to assist in the addition of gamma carboxylate groups to glutamic acids in the "GLA" domains of these factors...
November 8, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29120579/expression-of-cd64-on-surface-of-circulating-monocytes-in-systemic-lupus-erythematosus-patients-relation-to-disease-activity-and-lupus-nephritis
#15
Yasser A Abd-Elhamid, Refaat M Eltanawy, Rasha M Fawzy, Nehad A Fouad, Ann M Atlm
CD64 is a type of integral membrane glycoprotein known as FC receptor that binds monomeric IgG-type antibodies with high affinity. It is more commonly known as FC gamma receptor 1 (FC?R1) and it is expressed on monocytes surface. The goal of this study was to investigate the association of CD64 expression on the surface of peripheral blood monocytes of systemic lupus erythematosus patients with disease activity, and lupus nephritis. 30 SLE patients were enrolled into this study. They were subdivided into: 15 SLE patients with lupus nephritis and 15 SLE patients without lupus nephritis...
January 2017: Egyptian Journal of Immunology
https://www.readbyqxmd.com/read/29114699/glomerulonephritis-disease-pattern-at-saudi-tertiary-care-center
#16
Khalid I AlMatham, Ali F AlFayez, Raghdah A AlHarthi, Falah S AlMutairi, Fahad S Alrasheedi, Abdulrehman Mustafa, Mustafa Ahmed, Basim A AlMatouq, Fadil A AlRowaei
To assess changes in the pattern of glomerular diseases to help guide optimal allocation of resources, to focus future reasearch, and improve outcomes. Methods: A retrospective chart review was conducted on kidney biopsies taken between 2007 and 2016 at a single tertiary care center in Saudi Arabia (King Fahad Medical City, Riyadh) to evaluate the prevalence and pattern of glomerulonephritis (GN). Results: The most common primary GN in 102 biopsies from adult patients with a mean age of 28.9 ± 13.6 years and 40...
November 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/29109423/transcriptomic-profiling-in-human-mesangial-cells-using-patient-derived-lupus-autoantibodies-identified-mir-10a-as-a-potential-regulator-of-il8
#17
Pattarin Tangtanatakul, Boonyakiat Thammasate, Alain Jacquet, Rangsima Reantragoon, Trairak Pisitkun, Yingyos Avihingsanon, Asada Leelahavanichkul, Nattiya Hirankarn
Autoantibody-mediated inflammation directed at resident kidney cells mediates lupus nephritis (LN) pathogenesis. This study investigated the role of miRNA in human mesangial cells (HMCs) stimulated with auto anti-dsDNA immunoglobulin (Ig)G antibodies. HMCs were treated with antibodies purified from active LN patients or non-specific IgG controls in the presence of normal serum. Aberrant miRNA was screened using high throughput sequencing. Anti-dsDNA IgG up-regulated 103 miRNAs and down-regulated 30 miRNAs. The miRNAs regulated genes in the cell cycle, catabolic processes, regulation of transcription and apoptosis signalling...
November 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29105558/comparison-of-disease-activity-between-tacrolimus-and-mycophenolate-mofetil-in-lupus-nephritis-a-randomized-controlled-trial
#18
N Kamanamool, A Ingsathit, S Rattanasiri, P Ngamjanyaporn, N Kasitanont, R Chawanasuntorapoj, W Pichaiwong, S Anutrakulchai, P Sangthawan, V Ophascharoensuk, Y Avihingsanon, V Sumethkul
We conducted a prospective multicenter, opened-label, parallel, randomized, controlled trial to compare tacrolimus (TAC) and mycophenolate mofetil (MMF) for induction and maintenance therapy in lupus nephritis (LN). Adult patients with biopsy-proven LN International Society of Nephrology/Renal Pathology Society classes III-V and active nephritis were to receive prednisolone (0.7-1.0 mg/kg/day for four weeks of run-in period and tapered) and randomly assigned to receive TAC (0.1 mg/kg/day) or MMF (1.5-2 g/day) as induction therapy for six months...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/29101552/long-term-renal-outcome-in-pediatric-glomerulonephritis-associated-with-crescent-formation
#19
Pornpimol Rianthavorn, Manunya Chacranon
BACKGROUND: Information on long-term renal outcome of pediatric glomerulonephritis associated with crescent formation is limited. A single center retrospective study was conducted to assess long-term renal survival and to determine whether the 2010 classification for antineutrophil cytoplasmic antibody (ANCA)-associated glomerulonephritis can predict renal outcome in pediatric glomerulonephritis associated with crescent formation. METHODS: Biopsy and clinical data of children, aged ≤ 18 years with ≥ 10 glomeruli and ≥ 10% crescentic glomeruli during January 1998 to December 2015, were reviewed...
November 3, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29089046/the-novel-isoxazoline-ectoparasiticide-lotilaner-credelio%C3%A2-a-non-competitive-antagonist-specific-to-invertebrates-%C3%AE-aminobutyric-acid-gated-chloride-channels-gabacls
#20
Lucien Rufener, Vanessa Danelli, Daniel Bertrand, Heinz Sager
BACKGROUND: The isoxazolines are a novel class of parasiticides that are potent inhibitors of γ-aminobutyric acid (GABA)-gated chloride channels (GABACls) and, to a lesser extent, of inhibitory glutamate-gated chloride channels (GluCls). Lotilaner (Credelio™), a novel representative of this chemical class, is currently evaluated for its excellent ectoparasiticide properties. METHODS: In this study, we investigated the molecular mode of action and pharmacology of lotilaner...
November 1, 2017: Parasites & Vectors
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