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https://www.readbyqxmd.com/read/28804836/assessment-of-factor-xiii
#1
László Muszbek, Éva Katona, Adrienne Kerényi
Blood coagulation factor XIII (FXIII) is essential for maintaining hemostasis. The absence of FXIII results in severe bleeding diathesis, which without prophylaxis frequently leads to fatal bleeding. As the usual hemostasis screening tests remain normal, the diagnosis of FXIII deficiency needs specific tests. Here, we describe FXIII activity determination by the ammonia release assay, which is the first-line test in the diagnostic algorithm for FXIII deficiency. The method for another activity test, the undeservedly rarely used fibrin cross-linking assay, is also presented...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28799202/immune-tolerance-induced-by%C3%A2-platelet-targeted-factor-viii-gene-therapy-in-hemophilia-a-mice-is-cd4%C3%A2-t-cell-mediated
#2
Y Chen, X Luo, J A Schroeder, J Chen, C K Baumgartner, J Hu, Q Shi
BACKGROUND: Immune responses are a major concern in gene therapy. Our previous studies demonstrated that platelet-targeted FVIII (2bF8) gene therapy together with in vivo drug-selection of transduced cells can rescue the bleeding diathesis and induce immune tolerance in FVIII(null) mice. OBJECTIVE: To investigate whether non-selectable 2bF8 lentiviral vector (LV) for the induction of platelet-FVIII expression is sufficient to induce immune tolerance and how immune tolerance is induced after 2bF8LV gene therapy...
August 11, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28783043/nbeal2-is-required-for-neutrophil-and-nk-cell-function-and-pathogen-defense
#3
John M Sowerby, David C Thomas, Simon Clare, Marion Espéli, Jose A Guerrero, Kim Hoenderdos, Katherine Harcourt, Morgan Marsden, Juneid Abdul-Karim, Mathew Clement, Robin Antrobus, Yagnesh Umrania, Philippa R Barton, Shaun M Flint, Jatinder K Juss, Alison M Condliffe, Paul A Lyons, Ian R Humphreys, Edwin R Chilvers, Willem H Ouwehand, Gordon Dougan, Kenneth Gc Smith
Mutations in the human NBEAL2 gene cause gray platelet syndrome (GPS), a bleeding diathesis characterized by a lack of α granules in platelets. The functions of the NBEAL2 protein have not been explored outside platelet biology, but there are reports of increased frequency of infection and abnormal neutrophil morphology in patients with GPS. We therefore investigated the role of NBEAL2 in immunity by analyzing the phenotype of Nbeal2-deficient mice. We found profound abnormalities in the Nbeal2-deficient immune system, particularly in the function of neutrophils and NK cells...
August 7, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28766854/potential-misdiagnosis-of-dysfibrinogenaemia-data-from-multicentre-studies-amongst-uk-neqas-and-pro-rbdd-project-laboratories
#4
I Jennings, S Kitchen, M Menegatti, R Palla, I Walker, F Peyvandi, M Makris
INTRODUCTION: Mutations in fibrinogen (Fgn) genes, causing dysfibrinogenaemia, can result in either a bleeding or thrombophilic diathesis. Dysfibrinogenaemia is infrequently encountered in hospital laboratories, and the utility of different assays in the diagnosis of dysfibrinogenaemia has not previously been explored in a multicentre study. We describe here an exercise in which PRO-RBDD project (prospective data collection on patients with fibrinogen and Factor XIII deficiencies) centres, and UK NEQAS centres, performed investigations for dysfibrinogenaemia...
August 2, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28762304/identification-of-two-novel-mutations-in-rasgrp2-affecting-platelet-caldag-gefi-expression-and-function-in-patients-with-bleeding-diathesis
#5
Teresa Sevivas, José María Bastida, David S Paul, Eva Caparros, Verónica Palma-Barqueros, Margarida Coucelo, Dalila Marques, Francisca Ferrer-Marín, José Ramón González-Porras, Vicente Vicente, Jesús María Hernández-Rivas, Steve P Watson, María Luisa Lozano, Wolfgang Bergmeier, José Rivera
The RASGRP2 gene encodes the Ca(2+) and DAG-regulated guanine nucleotide exchange factor I (CalDAG-GEFI), which plays a key role in integrin activation in platelets and neutrophils. We here report two new RASGRP2 variants associated with platelet dysfunction and bleeding in patients. The homozygous patients had normal platelet and neutrophil counts and morphology. Platelet phenotyping showed: prolonged PFA-100 closure times; normal expression of major glycoprotein receptors; severely reduced platelet aggregation response to ADP and collagen (both patients); aggregation response to PAR1 and arachidonic acid markedly impaired in one patient; PMA-induced aggregation unaffected; platelet secretion, clot retraction, and spreading minimally affected...
August 1, 2017: Platelets
https://www.readbyqxmd.com/read/28747619/comparison-of-commercially-available-blood-collection-tubes-containing-sodium-citrate-and-hirudin-in-platelet-aggregation-testing
#6
Walter J Janse van Rensburg, Patricia van der Merwe
BACKGROUND Platelet reactivity assessment is an important tool in both the causal determination of bleeding diathesis as well as in the evaluation of the efficacy of anti-platelet therapy in patients at risk of thrombosis. Sodium citrate is the most widely used anticoagulant for hemostasis investigations. However, some doubt exists over the suitability of sodium citrate in platelet function testing. Hirudin has been suggested as a superior replacement. Nevertheless, only 1 study compared citrated and hirudin treated samples with light transmission aggregometry...
July 27, 2017: Medical Science Monitor Basic Research
https://www.readbyqxmd.com/read/28726538/marked-bleeding-diathesis-in-patients-with-platelet-dysfunction-due-to-a-novel-mutation-in-rasgrp2-encoding-caldag-gefi-p-gly305asp
#7
Emilse Bermejo, Maria F Alberto, David S Paul, Aaron A Cook, Paquita Nurden, Analia Sanchez Luceros, Alan T Nurden, Wolfgang Bergmeier
Congenital platelet function disorders are often the result of defects in critical signal transduction pathways required for platelet adhesion and clot formation. Mutations affecting RASGRP2, the gene encoding the Rap GTPase activator, CalDAG-GEFI, give rise to a novel, and rare, group of platelet signal transduction abnormalities. We here report platelet function studies for two brothers (P1 and P2) expressing a novel variant of RASGRP2, CalDAG-GEFI(p.Gly305Asp). P1 and P2 have a lifelong history of bleeding with severe epistaxis successfully treated with platelet transfusions or rFVIIa...
July 20, 2017: Platelets
https://www.readbyqxmd.com/read/28721285/ureteroscopy-for-stone-disease-expanding-roles-in-the-modern-era
#8
REVIEW
Adrian Ho, Piyush Sarmah, Ewa Bres-Niewada, Bhaskar K Somani
INTRODUCTION: The prevalence of urolithiasis is increasing worldwide and is causing significant morbidity and cost to the healthcare systems. While ureteroscopy (URS) has been established as a treatment option, our review highlights the expanding role of URS for the management of more complex stones and patients in the modern era. MATERIAL AND METHODS: Ureteroscopy has shown to have good outcomes with stone free rates (SFR) comparable to other treatment modalities...
June 30, 2017: Central European Journal of Urology
https://www.readbyqxmd.com/read/28720366/the-evolving-role-of-retrograde-intrarenal-surgery-in-the-treatment-of-urolithiasis
#9
REVIEW
Francesco Sanguedolce, Giorgio Bozzini, Ben Chew, Panagiotis Kallidonis, Jean de la Rosette
CONTEXT: Retrograde intrarenal surgery has gained substantial popularity worldwide thanks to continuous improvements in technology and techniques, and is now considered one of the first-line treatment options for active removal of renal stones. OBJECTIVE: To provide a comprehensive synthesis of the main evidences in literature on the current management of kidney stones by means of retrograde intrarenal surgery (RIRS). EVIDENCE ACQUISITION: A review of literature has been conducted using search string "retrograde intrarenal surgery OR flexible ureteroscop* OR ureterorenoscop*", without any language restriction; PubMed, Embase, and Scopus databases were searched in November 2016...
February 2017: European Urology Focus
https://www.readbyqxmd.com/read/28717540/totally-tubeless-percutaneous-nephrolithotomy-is-feasible-in-morbidly-obese-patients
#10
Seyed Mohammad Kazem Aghamir, Mohammad Ghasem Mohseni, Seyed Reza Hosseini, Alborz Salavati, Hossein Ganjali, Mohammad Ali Fallah, Hamed Rezaei, Seyed Saeed Modaresi
OBJECTIVE: Regarding technical difficulties that obese body habitus might impose to percutaneous nephrolithotomy (PNL) success and higher risk of peri-operative complications in this group of patients, we decided to retrospectively gather data from our patients during past 8 years to determine the stone free and complication rates. MATERIAL AND METHODS: Between January 2007-December 2015, seventy-eight obese patients with body mass index over 35 who had indication for PNL including stones larger than 2 cm in pelvi-calyceal system or smaller extracorporeal shock wave lithotripsy (ESWL) resistant stones or who were not a fit candidate for ESWL due to increased skin to target distance, with no contraindication of PNL (including bleeding diathesis, inability to be positioned in prone) were enrolled...
June 2017: Turkish Journal of Urology
https://www.readbyqxmd.com/read/28717532/retrograde-intrarenal-surgery-for-renal-stones-part-1
#11
REVIEW
Ben Van Cleynenbreugel, Özcan Kılıç, Murat Akand
The main aim in the treatment of renal stones is to clearance of the stones completely with the least morbidity. Parallel to the improvements in technology during recent years, new flexible ureterorenoscopes and effective lithotripters such as holmium laser have been developed, thus retrograde intrarenal surgery (RIRS) has become an efficient and safe option in the management of urinary system stone disease with a gradually increasing popularity. Therewithal, innovations in auxiliary equipment such as guide-wires, ureteral access sheath and stone baskets have made this procedure more effective...
June 2017: Turkish Journal of Urology
https://www.readbyqxmd.com/read/28697023/clot-dynamics-and-mortality-the-ma-r-ratio
#12
Stephanie A Savage, Ben L Zarzaur, Timothy H Pohlman, Brian L Brewer, Louis J Magnotti, Martin A Croce, Garrett H Lim, Ali C Martin
INTRODUCTION: The coagulopathy of trauma, illustrated by a short R-time, is common and well understood. The physiology behind this may be early thrombin burst with rapid clot formation. Rapid consumption of fibrinogen, however, may result in weak clot and substrate depletion, resulting in low MA. While these characteristics are interesting, utilizing TEG to identify those at risk for subsequent bleeding diathesis, especially in those who do not demonstrate early signs of physiologic derangement, is challenging...
July 8, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28682993/quantification-of-von-willebrand-factor-cleavage-by-adamts-13-in-patients-supported-by-left-ventricular-assist-devices
#13
Yong Zhou, Shizhen Qin, Tristan Hilton, Li Tang, Miguel Cruz, Ruben Hernandez, Joel L Moake, Qiang Tian, O H Frazier, Jing-Fei Dong, Angelo Nascimbene
Patients supported by left ventricular assist devices (LVADs) often present with the loss of large von Willebrand factor (VWF) multimers. This VWF deficiency is believed to contribute to the bleeding diathesis of patients on LVAD support and is caused by excessive VWF cleavage by the metalloprotease ADAMTS-13 under high shear stress. However, only a small percentage of patients who have suffered the loss of large VWF multimers bleed. The actual rates of VWF cleavage in these patients have not been reported, primarily because of the lack of reliable detection methods...
July 1, 2017: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
https://www.readbyqxmd.com/read/28643468/eltrombopag-use-in-a-patient-with-wiskott-aldrich-syndrome
#14
Maria Gabelli, Antonio Marzollo, Lucia Dora Notarangelo, Giuseppe Basso, Maria Caterina Putti
Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder characterized by microthrombocytopenia, immunodeficiency, and eczema. Hematopoietic stem cell transplantation (HSCT) is the treatment of choice. Eltrombopag, a thrombopoietin receptor agonist, may be useful to prevent bleeding while awaiting HSCT. We present a case of a male with WAS, profound thrombocytopenia, and bleeding diathesis successfully managed with eltrombopag before HSCT. Eltrombopag was given for 32 weeks obtaining a stable platelet count without any platelet transfusion...
June 23, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28640947/clinico-molecular-analysis-of-eleven-patients-with-hermansky-pudlak-type-5-syndrome-a-mild-form-of-hps
#15
Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, Alain Verloes, Yaumara Perdomo-Trujillo, Christian Hamel, Nursel H Elcioglu, Bart Leroy, Josseline Kaplan, Pierre-Simon Jouk, Didier Lacombe, Patricia Fergelot, Fanny Morice-Picard, Benoit Arveiler
Hermansky-Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with bleeding diathesis and in some cases pulmonary fibrosis and granulomatous colitis. All 10 HPS types are caused by defects in vesicle trafficking of lysosomes-related organelles (LRO) proteins. The HPS5 protein associates with HPS3 and HPS6 to form the Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2). Here we report the clinical and genetic data of 11 HPS-5 patients analyzed in our laboratory...
June 22, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28624464/complex-phenotypes-associated-with-stim1-mutations-in-both-coiled-coil-and-ef-hand-domains
#16
Elizabeth Harris, Umar Burki, Chiara Marini-Bettolo, Marcella Neri, Chiara Scotton, Judith Hudson, Marta Bertoli, Teresinha Evangelista, Bas Vroling, Tuomo Polvikoski, Mark Roberts, Ana Töpf, Kate Bushby, Daniel McArthur, Hanns Lochmüller, Alessandra Ferlini, Volker Straub, Rita Barresi
Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate myopathy, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism, hypocalcaemia and bleeding diathesis), and a platelet dysfunction disorder, York platelet syndrome. Previous reports have suggested a genotype-phenotype correlation with mutations in the N-terminal EF-hand domain associated with tubular aggregate myopathy, and a common mutation at p.R304W in a coiled coil domain associated with Stormorken syndrome...
May 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28622377/hemostatic-function-to-regulate-perioperative-bleeding-in-patients-undergoing-spinal-surgery-a-prospective-observational-study
#17
Atsushi Kimura, Tsukasa Ohmori, Asuka Sakata, Teruaki Endo, Hirokazu Inoue, Satoshi Nishimura, Katsushi Takeshita
Although bleeding is a common complication of surgery, routine laboratory tests have been demonstrated to have a low ability to predict perioperative bleeding. Better understanding of hemostatic function during surgery would lead to identification of high-risk patients for bleeding. Here, we aimed to elucidate hemostatic mechanisms to determine perioperative bleeding. We prospectively enrolled 104 patients undergoing cervical spinal surgery without bleeding diathesis. Blood sampling was performed just before the operation...
2017: PloS One
https://www.readbyqxmd.com/read/28594466/bleeding-is-not-the-main-clinical-issue-in-many-patients-with-inherited-thrombocytopaenias
#18
REVIEW
F Melazzini, C Zaninetti, C L Balduini
Bleeding diathesis has been considered for a long time the main clinical issue impacting the lives of patients affected by inherited thrombocytopaenias. However, the number of known inherited thrombocytopaenias greatly increased in recent years, and careful evaluation of hundreds of patients affected by these 'new' disorders revealed that most of them are at risk of developing additional life-threatening disorders during childhood or adult life. These additional disorders are usually more serious and dangerous than low platelet count...
June 8, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28529095/understanding-operator-stent-choice-in-the-catheterization-laboratory-using-a-pre-procedure-survey-opportunities-for-quality-improvement
#19
Matthew J Chung, Jonathan D Hansen, Ryan D Schulteis, Joel C Boggan, W Schuyler Jones, Thomas J Povsic, Susan Roberts, Mitchell W Krucoff, Sunil V Rao
OBJECTIVES: We sought to characterize how the perceived risk of early dual antiplatelet therapy (DAPT) discontinuation is incorporated into operator decision-making regarding stent choice, using a simple pre-procedure survey screening for clinical variables that may lead to early DAPT discontinuation. BACKGROUND: Understanding which factors influence operator decision-making regarding stent choice during percutaneous coronary intervention (PCI) could help identify areas for quality improvement...
May 8, 2017: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/28484587/reducing-error-in-anticoagulant-dosing-via-multidisciplinary-team-rounding-at-point-of-care
#20
Munish Sharma, Mahesh Krishnamurthy, Richard Snyder, James Mauro
The incorporation of a clinical pharmacist in daily rounding can help identify and correct errors related to anticoagulation dosing. Inappropriate anticoagulant dosing increases the risk of developing significant bleeding diathesis. Conversely, inappropriate dosing may also fail to produce a therapeutic response. We retrospectively reviewed electronic medical records of 41 patients to confirm and analyze the errors related to various anticoagulants. A clinical pharmacist in an integrated rounding between the period of February 2016 and April 2016 collected this data...
April 6, 2017: Clinics and Practice
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