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ADAMTS13

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https://www.readbyqxmd.com/read/29771863/upshaw-schulman-syndrome-with-c-2728c-t-mutation-in-adamts13-gene
#1
Shahzadi Resham, Zehra Fadoo, Bushra Moiz
Congenital thrombotic thrombocytopenic purpura is a rare autosomal recessive disorder presenting with hemolytic anemia, thrombocytopenia, micro vascular thrombosis, and end organ damage. Here, we present a case of a 7-year-old girl having recurrent neonatal hemolysis, developmental delay, frequent seizures, and thrombocytopenia. Characteristic clinical picture and gene sequencing of a disintegrin and metalloproteinase with thrombospondin motifs 13 confirmed the diagnosis of Upshaw-Schulman syndrome. She was treated successfully with plasma infusion...
May 16, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29763513/child-onset-thrombotic-thrombocytopenic-purpura-caused-by-p-r498c-and-p-g259pfsx133-mutations-in-adamts13
#2
An-Sofie Schelpe, Christelle Orlando, Bogaç Ercig, Chloë Geeroms, Inge Pareyn, Nele Vandeputte, Leydi Carolina Velásquez Pereira, Elien Roose, Karel Fostier, Gerry A F Nicolaes, Hans Deckmyn, Simon F De Meyer, Karen Vanhoorelbeke, Kristin Jochmans
INTRODUCTION: Patients suffering from congenital thrombotic thrombocytopenic purpura (cTTP) have a deficiency in ADAMTS13 due to mutations in their ADAMTS13 gene. OBJECTIVE: The aim of this study was to determine ADAMTS13 parameters (activity, antigen and mutations), to investigate if the propositus suffered from child-onset cTTP and to study the in vitro effect of the ADAMTS13 mutations. METHODS: ADAMTS13 activity and antigen were determined using the FRETS VWF73 assay and ELISA and ADAMTS13 mutations via sequencing of the exons...
May 15, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29760619/adamts13-deficiency-and-immunological-abnormalities-in-patients-with-systemic-sclerosis
#3
Zofia Gerlicz-Kowalczuk, Jolanta D Torzecka, Elżbieta Dziankowska-Zaborszczyk, Alicja Ograczyk, Anna M Zalewska-Janowska, Anna Woźnicka, Bożena Dziankowska-Bartkowiak
Introduction: Systemic sclerosis (SSc) is a chronic autoimmune connective tissue disorder characterized by immunological deviations and generalized microvascular damage. Aim: To determine the serum level of the von Willebrand factor cleaving protease (ADAMTS13) in 39 SSc patients and healthy controls. Material and methods: ADAMTS13 serum level was determined in 39 SSc patients and 11 healthy controls. Complete history of the patients was recorded and thorough clinical, rheumatological, and dermatological examinations were performed...
April 2018: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/29758118/hemostasis-biomarkers-in-multiple-sclerosis
#4
Nicole Ziliotto, Francesco Bernardi, Dejan Jakimovski, Marcello Baroni, Giovanna Marchetti, Niels Bergsland, Deepa P Ramasamy, Bianca Weinstock-Guttman, Ferdinand Schweser, Paolo Zamboni, Murali Ramanathan, Robert Zivadinov
OBJECTIVE: To investigate the plasma levels of hemostasis components in multiple sclerosis (MS) and their association with clinical and MRI outcomes. METHODS: We studied 138 MS patients (85 with relapsing-remitting, RR-MS and 53 with progressive, P-MS) with mean age of 54 years; 72.5% female; median EDSS 3.5; mean disease duration 21 years) and 42 age- and sex-matched healthy individuals (HI). All subjects were examined with 3T MRI and clinical examinations. Plasma levels of hemostasis factors (procoagulant, factor XII, FXII) and inhibitors (tissue factor pathway inhibitor (TFPI), thrombomodulin (TM), heparin cofactor II (HCII), disintegrin-like and metalloprotease with thrombospondin type 1 motif 13 (ADAMTS13), and plasminogen activator inhibitor 1 (PAI-1) were evaluated by magnetic Luminex assays and ELISA...
May 14, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29737462/validation-of-plasmic-score-and-follow-up-data-in-a-cohort-of-patients-with-suspected-microangiopathies-from-southern-italy
#5
Giovanni Luca Tiscia, Angelo Ostuni, Nicola Cascavilla, Filomena Cappucci, Potito Scalzulli, Cosima Battista, Antonio Abrescia, Filippo Aucella, Caterina Buquicchio, Maurizio Brigante, Giovanna D'Andrea, Bruno Di Paolo, Giulio Giordano, Barbara Infante, Silvia Piano, Prudenza Ranieri, Livio Tullo, Elvira Grandone
Severe ADAMTS13 deficiency (activity < 10%) is pathognomonic of thrombotic thrombocytopenic purpura. ADAMTS13 testing is time-consuming and unavailable in many hospitals. Recently, a seven-variables score named PLASMIC score, has been developed to stratify acute patients, based on their risk of having a severe ADAMTS13 deficiency. We present the application of this score in a cohort of patients referred to our Center. From 2012 to 2017, 42 patients with suspected thrombotic microangiopathies from 6 Centers were referred to Hemostasis and Thrombosis Center of "Casa Sollievo della Sofferenza" Hospital/Research Institute for ADAMTS13 testing...
May 8, 2018: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/29729651/role-of-von-willebrand-factor-and-adamts13-in-early-brain-injury-after-experimental-subarachnoid-hemorrhage
#6
H Wan, Y Wang, J Ai, S Brathwaite, H Ni, R L Macdonald, E M Hol, J C M Meijers, M D I Vergouwen
BACKGROUND: Early brain injury is an important determinant of poor functional outcome and case-fatality after aneurysmal subarachnoid hemorrhage (SAH) and associated with early platelet aggregation. No treatment exists for early brain injury after SAH. We investigated if von Willebrand Factor (VWF) is involved in the pathogenesis of early brain injury, and if ultra-early treatment with recombinant ADAMTS13 (rADAMTS13) reduces early brain injury after experimental SAH. METHODS: Experimental SAH in mice was induced by prechiasmatic injection of non-anticoagulated blood from a littermate...
May 5, 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29728803/acquired-thrombotic-thrombocytopenic-purpura-with-isolated-cfhr3-1-deletion-rapid-remission-following-complement-blockade
#7
Martin Bitzan, Rawan M Hammad, Arnaud Bonnefoy, Watfa Shahwan Al Dhaheri, Catherine Vézina, Georges-Étienne Rivard
BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) is caused by the abundance of uncleaved ultralarge von Willebrand factor multimers (ULvWF) due to acquired (autoantibody-mediated) or congenital vWF protease ADAMTS13 deficiency. Current treatment recommendations include plasma exchange therapy and immunosuppression for the acquired form and (fresh) frozen plasma for congenital TTP. CASE-DIAGNOSIS/TREATMENT: A previously healthy, 3-year-old boy presented with acute microangiopathic hemolytic anemia, thrombocytopenia, erythrocyturia and mild proteinuria, but normal renal function, and elevated circulating sC5b-9 levels indicating complement activation...
May 4, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29727450/rift-valley-fever-viral-load-correlates-with-the-human-inflammatory-response-and-coagulation-pathway-abnormalities-in-humans-with-hemorrhagic-manifestations
#8
Annabelle de St Maurice, Jessica Harmon, Luke Nyakarahuka, Stephen Balinandi, Alex Tumusiime, Jackson Kyondo, Sophia Mulei, Annemarion Namutebi, Barbara Knust, Trevor Shoemaker, Stuart T Nichol, Anita K McElroy, Christina F Spiropoulou
Rift Valley fever virus is an arbovirus that affects both livestock and humans throughout Africa and in the Middle East. Despite its endemicity throughout Africa, it is a rare event to identify an infected individual during the acute phase of the disease and an even rarer event to collect serial blood samples from the affected patient. Severely affected patients can present with hemorrhagic manifestations of disease. In this study we identified three Ugandan men with RVFV disease that was accompanied by hemorrhagic manifestations...
May 4, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29726019/speed-modulation-of-the-heartware-hvad-to-assess-in-vitro-hemocompatibility-of-pulsatile-and-continuous-flow-regimes-in-a-rotary-blood-pump
#9
Jarod T Horobin, Michael J Simmonds, Deepika Nandakumar, Shaun D Gregory, Geoff Tansley, Jo P Pauls, Angela Girnghuber, Nicoletta Balletti, John F Fraser
Although rotary blood pumps (RBPs) sustain life, blood exposure to continuous supra-physiological shear stress induces adverse effects (e.g., thromboembolism); thus, pulsatile flow in RBPs represents a potential solution. The present study introduced pulsatile flow to the HeartWare HVAD using a custom-built controller and compared hemocompatibility biomarkers (i.e., platelet aggregation, concentrations for ADAMTS13, von Willebrand factor (vWf), and free-hemoglobin in plasma (pfHb), red blood cell (RBC) deformability, and RBC-nitric oxide synthase (NOS) activity) between continuous and pulsatile flow in a blood circulation loop over 5 h...
May 3, 2018: Artificial Organs
https://www.readbyqxmd.com/read/29687787/drug-induced-thrombotic-microangiopathy-with-certolizumab-pegol
#10
Mehmet Baysal, Elif Gülsüm Ümit, Fatih Sarıtaş, Nil Su Kodal, Ahmet Muzaffer Demir
BACKGROUND: Certolizumab pegol is used to treat ankylosing spondylitis (AS), chron disease, psoriatic arthritis and rheumatoid arthritis. In contrast to other monoclonal antibodies such as infliximab and adalimumab, certolizumab does not contain an Fc fraction and hence, does not induce complement activation. In this case, we are presenting a case with thrombotic microangiopathy (TMA) due to certolizumab pegol, with a touch of pathophysiological approach to TMA. CASE REPORT: A-39-year-old man with AS of ten years presented with fatigue...
April 24, 2018: Balkan Medical Journal
https://www.readbyqxmd.com/read/29674502/dissecting-the-pathophysiology-of-immune-thrombotic-thrombocytopenic-purpura-interplay-between-genes-and-environmental-triggers
#11
Johana Hrdinová, Silvia D'Angelo, Nuno A G Graça, Bogac Ercig, Karen Vanhoorelbeke, Agnès Veyradier, Jan Voorberg, Paul Coppo
Although outstanding progress has been made in comprehending the pathophysiology of thrombotic thrombocytopenic purpura, our understanding of the immunopathogenesis of the disease is only in its earlier stage. Anti-ADAMTS13 auto-antibodies were shown to block proteolysis of von Willebrand factor and/or induce ADAMTS13 clearance from the circulation. However, which immune cells are involved in the production of anti-ADAMTS13 autoantibodies and hence account for the remarkable efficacy of the B-cell depleting agents in this disease, remain to be identified...
April 19, 2018: Haematologica
https://www.readbyqxmd.com/read/29669506/mutations-and-common-polymorphisms-in-adamts13-and-vwf-genes-responsible-for-increasing-risk-of-thrombosis
#12
Habib Haybar, Elahe Khodadi, Maria Kavianpour, Najmaldin Saki
BACKGROUND AND OBJECTIVE: ADAMTS13 (A Disintegrin-like and Metalloproteases with Thrombospondin type-1 repeats, member-13) plays an important role in vascular hemostasis by cleaving the von Willebrand Factor (vWF). ADAMTS13 and vWF are involved in the development of ischemic heart disease. In this review paper, we examine the effects of single nucleotide polymorphisms (SNPs) and mutations in the vWF and ADAMTS13 genes and their contribution to the development of thrombosis. METHODS: Relevant English-language literature were searched and retrieved from PubMed search engine (2001-2017)...
April 18, 2018: Cardiovascular & Hematological Disorders Drug Targets
https://www.readbyqxmd.com/read/29621007/disseminated-intravascular-coagulation-is-it-fact-or-fancy
#13
Jae C Chang
: 'Disseminated intravascular coagulation (DIC)' occurs commonly in critical illnesses such as sepsis, trauma, cancer, and complications of surgery and pregnancy. Mortality is very high. The pathogenesis has been ascribed to tissue factor-initiated coagulation disorder, resulting in disseminated microblood clots that are made of platelets, plasma factors, fibrins, and blood cells. True DIC depletes coagulation factors and consumes platelets, and activates fibrinolysis. 'DIC' is assumed to orchestrate thrombocytopenia, microangiopathic hemolytic anemia and hypoxic multiorgan dysfunction syndrome, and causes hemorrhagic disorder due to depleted coagulation factors...
April 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29618155/von-willebrand-factor-aggravates-hepatic-ischemia-reperfusion-injury-by-promoting-neutrophil-recruitment-in-mice
#14
Yasuyuki Urisono, Asuka Sakata, Hideto Matsui, Shogo Kasuda, Shiro Ono, Kiyomi Yoshimoto, Kenji Nishio, Masayuki Sho, Masashi Akiyama, Toshiyuki Miyata, Kazuo Okuchi, Satoshi Nishimura, Mitsuhiko Sugimoto
Hepatic ischaemia-reperfusion (I/R) injury is a serious liver damage that critically influences the clinical outcome of liver surgery or transplantation. Since recent studies indicated the critical involvement of von Willebrand factor (VWF) in reperfusion injuries of brain and myocardium, we hypothesized that VWF-dependent thrombotic or inflammatory responses also play a role in hepatic I/R injury. Using a mouse model of hepatic I/R injury, we explored the functional relevance of the VWF-ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) axis in this pathologic condition...
April 2018: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/29618154/low-plasma-adamts13-activity-is-associated-with-coagulopathy-endothelial-cell-damage-and-mortality-after-severe-paediatric-trauma
#15
Robert T Russell, Jenny K McDaniel, Wenjing Cao, Michelle Shroyer, Brant M Wagener, X Long Zheng, Jean-François Pittet
Decrease of plasma activity of ADAMTS13, a metalloenzyme that cleaves von Willebrand factor (VWF) and prevents adhesion and aggregation of platelets, has been reported early after onset of systemic inflammation resulting from infections and after severe trauma. Here, we determined whether trauma-induced systemic (sterile) inflammation would be associated with a reduction of plasma ADAMTS13 activity in paediatric patients and its association with disease severity and outcome. Paediatric patients ( n  = 106) with severe trauma at a level 1 paediatric trauma centre between 2014 and 2016 were prospectively enrolled...
April 2018: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/29615758/von-willebrand-factor-and-adamts13-activity-in-relation-to-risk-of-dementia-a-population-based-study
#16
Frank J Wolters, Johan Boender, Paul S de Vries, Michelle A Sonneveld, Peter J Koudstaal, Moniek P de Maat, Oscar H Franco, M Kamran Ikram, Frank W Leebeek, M Arfan Ikram
Low ADAMTS13 activity is associated with an increased risk of cardiovascular disease, which is generally attributed to its proteolytic effects on Von Willebrand factor (VWF). Cardiovascular health is an important determinant of cognitive decline, but the association of either VWF or ADAMTS13 with risk of dementia is unknown. Between 1997-2002, we measured VWF antigen and ADAMTS13 activity in 6055 participants of the population-based Rotterdam Study (mean age 69.3 years, 57.2% women). At baseline, 85 participants had dementia, and during 15 years of follow-up 821 developed dementia...
April 3, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29614523/evaluation-of-the-fully-automated-hemosil-acustar-adamts13-activity-assay
#17
Julien Favresse, Benjamin Lardinois, Bernard Chatelain, Hugues Jacqmin, François Mullier
No abstract text is available yet for this article.
April 3, 2018: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/29582550/consensus-opinion-on-diagnosis-and-management-of-thrombotic-microangiopathy-in-australia-and-new-zealand
#18
REVIEW
Lucy C Fox, Solomon J Cohney, Joshua Y Kausman, Jake Shortt, Peter D Hughes, Erica M Wood, Nicole M Isbel, Theo de Malmanche, Anne Durkan, Pravin Hissaria, Piers Blombery, Thomas D Barbour
Thrombotic microangiopathy (TMA) arises in a variety of clinical circumstances with the potential to cause significant dysfunction of the kidneys, brain, gastrointestinal tract and heart. TMA should be considered in all patients with thrombocytopenia and anaemia, with an immediate request to the haematology laboratory to look for red cell fragments on a blood film. Whilst TMA of any aetiology generally demands prompt treatment, this is especially so in thrombotic thrombocytopenic purpura (TTP) and atypical haemolytic uraemic syndrome (aHUS), where organ failure may be precipitous, irreversible and fatal...
March 27, 2018: Internal Medicine Journal
https://www.readbyqxmd.com/read/29567779/mass-spectrometry-assisted-identification-of-adamts13-derived-peptides-presented-on-hla-dr-and-hla-dq
#19
Johana Hrdinová, Fabian C Verbij, Paul H P Kaijen, Robin B Hartholt, Floris van Alphen, Neubury Lardy, Anja Ten Brinke, Karen Vanhoorelbeke, Pooja J Hindocha, Anne S De Groot, Alexander B Meijer, Jan Voorberg, Ivan Peyron
Formation of microthrombi is a hallmark of acquired thrombotic thrombocytopenic purpura. These microthrombi originate from insufficient processing of ultra large von Willebrand factor multimers by ADAMTS13 due to the development of anti-ADAMTS13 autoantibodies. Several studies have identified the major histocompatibility complex class II alleles HLA-DRB1*11, HLA-DQB1*03 and HLA-DQB1*02:02 as risk factors for acquired thrombotic thrombocytopenic purpura development. Previous research in our department indicated that ADAMTS13 CUB2 domain-derived peptides FINVAPHAR and LIRDTHSLR are presented on HLA-DRB1*11 and HLA-DRB1*03, respectively...
March 22, 2018: Haematologica
https://www.readbyqxmd.com/read/29567368/efficacy-of-eculizumab-in-severe-adamts13-deficient-thrombotic-thrombocytopenic-purpura-ttp-refractory-to-standard-therapies
#20
Ernesto Vigna, Annamaria Petrungaro, Anna Perri, Dario Terzi, Anna Grazia Recchia, Francesco Mendicino, Antonella La Russa, Sabrina Bossio, Laura De Stefano, Francesco Zinno, Renzo Bonofiglio, Fortunato Morabito, Massimo Gentile
Thrombotic thrombocytopenic purpura (TTP) is a rare microangiopathic hemolytic anemia (MAHA) defined by mechanical hemolytic anemia, severe thrombocytopenia, and systemic visceral ischemia due to systemic platelet-rich microthrombi. Forty percent of patients with autoimmune TTP experience one or multiple relapses. Patients with refractory TTP are currently managed by corticosteroids, twice-daily PEX, and the anti-CD20 monoclonal antibody rituximab. Herein, we report two cases of severe TTP, refractory to those standard agents...
March 15, 2018: Transfusion and Apheresis Science
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