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https://www.readbyqxmd.com/read/30216638/from-thrombasthenia-to-next-generation-thrombocytopenia-neonatal-alloimmune-thrombocytopenia-induced-by-maternal-glanzmann-thrombasthenia
#1
Assaf Arie Barg, Hagit Hauschner, Jacob Luboshitz, Tami Livnat, Tzipi Straus, Sarina Levy-Mendelovich, Aharon Lubetsky, Nurit Rosenberg, Gili Kenet
BACKGROUND: Glanzmann thrombasthenia (GT) is a rare autosomal recessive disorder of platelet function caused by mutations in the genes coding for integrin αIIbβ3. The aim of this study was to examine the outcome of newborns of GT mothers, with emphasis on thrombocytopenia and bleeding manifestations and their relation to maternal antiplatelet antibodies. PROCEDURE: Medical files of all female patients with GT treated in a single tertiary center from 1999 to 2017 were searched for details on pregnancy and birth...
September 14, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/30185814/primary-immunodeficiency-diseases-in-a-tuberculosis-endemic-region-challenges-and-opportunities
#2
Brigitte Glanzmann, Caitlin Uren, Nikola de Villiers, Ansia van Coller, Richard H Glashoff, Michael Urban, Eileen G Hoal, Monika M Esser, Marlo Möller, Craig J Kinnear
While individual primary immunodeficiency diseases (PIDs) are rare, collectively they represent a significant burden of disease. Recent estimates show that about one million people in Africa suffer from a PID. However, data from African PID registries reflect only a small percentage of the estimated prevalence. This disparity is partly due to the lack of PID awareness and the masking of PIDs by the endemic pathogens. Over three million tuberculosis (TB) cases were reported in Africa in 2016, with many of these from southern Africa...
September 6, 2018: Genes and Immunity
https://www.readbyqxmd.com/read/30138987/-molecular-analysis-of-gene-mutations-in-eight-patients-with-glanzmann-s-thrombasthenia
#3
L Z Miao, F Y Gan, Y Gong, C X Qu, J Z Wang, J Y Yuan, B J Gao, Y Lu, R You
Objective: To analyze the gene sequencing in eight patients with Glanzmann's thromboasthenia(GT), and combined with clinical manifestations and laboratory findings to investigate the molecular mechanism of GT. Methods: Eight patients who were diagnosed as GT based on platelet aggregation test and flow cytometry were enrolled, as well as 4 pedigrees. Next-generation sequencing was used to analyze all the exons and flanking sequences of αⅡ band β3 gene and also platelet-type bleeding disorders related genes...
August 14, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/30117143/how-we-treat-the-platelet-glycoprotein-defects-glanzmann-thrombasthenia-and-bernard-soulier-syndrome-in-children-and-adults
#4
REVIEW
John D Grainger, Jecko Thachil, Andrew M Will
The inherited platelet glycoprotein deficiencies, Glanzmann thrombasthenia (GT) and Bernard Soulier syndrome (BSS) are rare but important long-term bleeding disorders. Once diagnosed, affected patients should be referred to a specialist centre for bleeding disorders for general advice and ongoing management. Patients do not require prophylactic treatment and so the management of GT and BSS focuses around prophylactic treatment prior to high risk procedures and treatment in response to non-surgical bleeding events and, in women, the management of menorrhagia and pregnancy...
September 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/30098941/novel-organic-salts-based-on-quinoline-derivatives-the-in-vitro-activity-trigger-apoptosis-inhibiting-autophagy-in-leishmania-spp
#5
Stephane Lima Calixto, Nícolas Glanzmann, Michele Maria Xavier Silveira, Juliana da Trindade Granato, Kezia Katiani Gorza Scopel, Thiago Torres de Aguiar, Renato Augusto DaMatta, Gilson Costa Macedo, Adilson David da Silva, Elaine Soares Coimbra
Leishmaniases are infectious diseases, caused by protozoa of the Leishmania genus. These drugs present high toxicity, long-term administration, many adverse effects and are expensive, besides the identification of resistant parasites. In this work, the antileishmanial activity of quinoline derivative salts (QDS) was evaluated, as well as the toxicity on mammalian cells and the mechanism of action of the most promising compound. Among the compound tested, only the compound QDS3 showed activity against promastigotes and amastigotes of Leishmania spp...
September 25, 2018: Chemico-biological Interactions
https://www.readbyqxmd.com/read/30097224/inherited-bleeding-disorders-in-the-obstetric-patient
#6
REVIEW
Bethany Samuelson Bannow, Barbara A Konkle
Inherited bleeding disorders increase the risk of bleeding in the obstetric patient. Randomized controlled trials to compare prophylactic or therapeutic interventions are rare, and guidance documents rely heavily on expert opinion. Here we report the results of a systematic review of the literature for the treatment and prevention of peripartum bleeding in women with an inherited bleeding disorder. The highest-quality evidence is for the use of tranexamic acid in postpartum hemorrhage, which has been shown to decrease bleeding-related mortality in women without bleeding disorders...
July 12, 2018: Transfusion Medicine Reviews
https://www.readbyqxmd.com/read/30093500/spontaneous-bone-regeneration-in-a-large-haemophilic-pseudotumour-of-mandible
#7
Saurabh Kumar, Arun Paul Charllu, Rabin Chacko, Jomi Porinchu
Pseudotumours of haemophilia (PTH) are locally expansile destructive haematomas which result in varying morbidity among haemophilic patients. Adequate haematological treatment and prophylaxis helps in preventing these haematomas. Currently, there is no uniform standard management protocol for this entity due to rarity of these lesions. PTH are seen in 1%-2% of the severe haemophilic patients. They may also be seen in moderate cases when adequate factor coverage is not provided or in cases with factor VIII inhibitors...
August 8, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/30078718/a-novel-approach-using-ancillary-tests-to-guide-treatment-of-glanzmann-thrombasthenia-patients-undergoing-surgical-procedures
#8
Assaf Arie Barg, Hagit Hauschner, Mudi Misgav, Aaron Lubetsky, Sarina Levy-Mendelowitz, Tami Livnat, Einat Avishai, Nurit Rosenberg, Gili Kenet
BACKGROUND: Glanzmann thrombasthenia (GT) is a disorder of platelet function. Standard therapy includes platelet transfusions, which may be hampered by antiplatelet antibodies. AIMS: To assess potential correlation between bleeding and number of active platelets in GT patients undergoing surgery. Clinical peri- operative patients' hemostasis was compared with flow cytometry analysis (FC), and whole blood clot formation. METHODS: GT patients undergoing surgery were included...
September 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30077511/inherited-platelet-disorders-management-of-the-bleeding-risk
#9
Arnaud Dupuis, Christian Gachet
Inherited platelet disorders are rare bleeding syndromes due to either platelet function abnormalities or thrombocytopenia which may be associated with functional defects. The haemorrhagic symptoms observed in these patients are mostly muco-cutaneous and of highly variable severity. Although 30 to 50% of the platelet disorders are still of unknown origin, the precise diagnosis of these pathologies by specialized laboratories together with haemorrhagic scores enables an assessment of the risk of bleeding in each patient...
September 2018: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
https://www.readbyqxmd.com/read/30032577/-special-type-of-glanzmann-s-thrombasthenia
#10
L Zhou, Z Y Wang, C G Ruan
No abstract text is available yet for this article.
June 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/30004056/platelet-function-tests-a-5-year-audit-of-platelet-function-tests-done-for-bleeding-disorders-in-a-tertiary-care-center-of-a-developing-country
#11
Sabina Langer, Jasmita Dass, Amrita Saraf, Jyoti Kotwal
Introduction: The platelet function disorders remain largely undiagnosed or incompletely diagnosed in developing nations due to lack of availability of tests like lumiaggregometry, granule release assay or molecular testing. We performed a retrospective analysis of all the platelet function test (PFT) carried out in past 5 years by Light transmission aggregometery (LTA) using a panel of agonist. The indications and the test results were analyzed by two hematopathologist with the aim to look into the present diagnostic facilities or lack of it for correct diagnosis...
July 2018: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29985398/mass-cytometry-reveals-distinct-platelet-subtypes-in-healthy-subjects-and-novel-alterations-in-surface-glycoproteins-in-glanzmann-thrombasthenia
#12
Thomas A Blair, Alan D Michelson, Andrew L Frelinger
Mass cytometry (MC) uses mass spectrometry to simultaneously detect multiple metal-conjugated antibodies on single cells, thereby enabling the detailed study of cellular function. Here, for the first time, we applied MC to the analysis of platelets. We developed a panel of 14 platelet-specific metal-tagged antibodies (targeting cluster of differentiation [CD] 9, CD29, CD31, CD36, CD41, CD42a, CD42b, CD61, CD62P, CD63, CD107a, CD154, glycoprotein [GP] VI and activated integrin αIIbβ3) and compared this panel with two fluorescence flow cytometry (FFC) panels (CD41, CD42b, and CD61; or CD42b, CD62P, and activated integrin αIIbβ3) in the evaluation of activation-dependent changes in glycoprotein expression on healthy subject and Glanzmann thrombasthenia (GT) platelets...
July 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29951177/study-of-the-relationship-between-hpa-1-and-hpa-5-gene-polymorphisms-and-refractory-to-platelet-therapy-and-recombinant-factor-vii-in-glanzmann-thrombasthenia-patients-in-southeast-of-iran
#13
Majid Naderi, Manizheh Habibpour, Shaban Alizadeh, Zahra Kashani Khatib, Akbar Dorgalaleh, Mohammed Awal Issah, Fatemeh Naadali
Background: Glanzmann Thrombasthenia (GT) is a rare autosomal disease. HPA (Human Platelet Alloantigen) is a surface polymorphic alloantigen of platelets. This study was intended to investigate and compare the polymorphism of HPA-1 and HPA-5 genes in two groups of GT patients, with and without resistance to platelet and recombinant factor VII therapy. Materials and Methods: This case control study was performed on GT patients (n=16) with resistance to platelet therapy and recombinant factor VII and control group of GT patients (n=16) without resistance to platelet therapy and recombinant factor VII...
January 1, 2018: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/29945125/management-of-abdominoperineal-excision-of-the-rectum-in-a-patient-with-glanzmann-thrombasthenia
#14
Frances Buckley, Alan Norris, Ron Kerr
No abstract text is available yet for this article.
2018: Acta Haematologica
https://www.readbyqxmd.com/read/29944877/correlation-of-structural-features-of-novel-1-2-3-triazoles-with-their-neurotoxic-and-tumoricidal-properties
#15
Elaine Maria de Souza-Fagundes, Johannes Delp, PedroH D M Prazeres, Lucas Bonfim Marques, Arturene Maria Lino Carmo, Pedro Henrique Fazza Stroppa, Nicolas Glanzmann, Jaffar Kisitu, Dàvid Szamosvàri, Thomas Böttcher, Marcel Leist, Adilson David da Silva
Triazoles are interesting templates for novel chemotherapeutic drugs. We synthesized here 17 1,3,4-substituted-1,2,3-triazoles that differed in their 1'-substituent (variable alkyl chain lengths C3-C12), the 3'-substituent (no substituent, -methyl or -propyl) or the salt form obtained. Several of the compounds were cytotoxic (μM range) for tumor cells (HL-60, Jurkat, MCF-7, HCT-116), and when the effect was compared to non-transformed cells (Vero), selectivity ratios of up to 23-fold were obtained. To estimate the liability of these potential drug candidates for triggering neurotoxicity, we used the LUHMES cell-based NeuriTox assay...
August 1, 2018: Chemico-biological Interactions
https://www.readbyqxmd.com/read/29904800/synthesis-characterization-and-nmr-studies-of-1-2-3-triazolium-ionic-liquids-a-good-perspective-regarding-cytotoxicity
#16
Nicolas Glanzmann, Arturene M L Carmo, Luciana M R Antinarelli, Elaine S Coimbra, Luiz Antônio S Costa, Adilson D da Silva
Ionic liquids (ILs) have been extensively studied and are considered green solvents capable of replacing traditional organic solvents. In this study, seven 1,2,3-triazolium derivative ILs have been synthesized. In order to study the effect of the cation nature on the ILs cytotoxicity, their structures were first identified by 1 H, 13 C NMR 1D, and 2D spectroscopy. DFT calculations have also been performed in a way to help to provide an insightful structural analysis from 13 C NMR spectroscopy. The comparison made with the NMR experimental shifts was quite important to show that the 1,2,3-triazolium derivatives have the expected structure shown here...
June 14, 2018: Journal of Molecular Modeling
https://www.readbyqxmd.com/read/29884513/acquired-antibodies-to-%C3%AE-iib%C3%AE-3-in-glanzmann-thrombasthenia-from-transfusion-and-pregnancy-to-bone-marrow-transplants-and-beyond
#17
REVIEW
Alan T Nurden
Patients with the inherited bleeding disorder Glanzmann thrombasthenia (GT) possess platelets that lack αIIbβ3 integrin and fail to aggregate, and have moderate to severe mucocutaneous bleeding. Many become refractory to platelet transfusions due to the formation of isoantibodies to αIIbβ3 with the rapid elimination of donor platelets and/or a block of function. Epitope characterization has shown isoantibodies to be polyclonal and to recognize different epitopes on the integrin with β3 a major site and αvβ3 on endothelial and vascular cells a newly recognized target...
May 23, 2018: Transfusion Medicine Reviews
https://www.readbyqxmd.com/read/29879742/alloimmunization-in-congenital-deficiencies-of-platelet-surface-glycoproteins-focus-on-glanzmann-s-thrombasthenia-and-bernard-soulier-s-syndrome
#18
Man-Chiu Poon, Roseline d'Oiron
Glanzmann's thrombasthenia (GT) and Bernard-Soulier's syndrome (BSS) are well-understood congenital bleeding disorders, showing defect/deficiency of platelet glycoprotein (GP) IIb/IIIa (integrin αIIbβ3) and GPIb-IX-V complexes respectively, with relevant clinical, laboratory, biochemical, and genetic features. Following platelet transfusion, affected patients may develop antiplatelet antibodies (to human leukocyte antigen [HLA], and/or αIIbβ3 in GT or GPIb-IX in BSS), which may render future platelet transfusion ineffective...
September 2018: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/29805054/correction-of-coagulopathy-in-thrombocytopenia-and-glanzmann-thrombasthenia-models-by-fibrinogen-and-factor-xiii-as-assessed-by-thromboelastometry
#19
Ivan Budnik, Boris Shenkman, Olga Morozova, Jurii Andreichyn, Yulia Einav
Thrombocytopenia (TCP) and Glanzmann thrombasthenia (GT) are typical platelet disorders characterized by mild to severe bleeding. This study aims to create in vitro models of TCP and GT and to correct the impaired clot formation by fibrinogen and coagulation factor XIII. The TCP model (mean platelet count, 16 × 109 L-1 ) was produced by differential centrifugation of normal blood followed by mixing plasma with packed cells. The GT model was created by treating normal blood with 50 μg/mL eptifibatide, an inhibitor of platelet integrin αIIbβ3...
May 24, 2018: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://www.readbyqxmd.com/read/29675921/clinical-and-molecular-insights-into-glanzmann-s-thrombasthenia-in-china
#20
L Zhou, M Jiang, H Shen, T You, Z Ding, Q Cui, Z Ma, F Yang, Z Xie, H Shi, J Su, L Cao, J Lin, J Yin, L Dai, H Wang, Z Wang, Z Yu, C Ruan, L Xia
Glanzmann's thrombasthenia (GT) is a rare bleeding disorder characterized by spontaneous mucocutaneous bleeding. The disorder is caused by quantitative or qualitative defects in integrin αIIbβ3 (encoded by ITGA2B and ITGB3) on the platelet and is more common in consanguineous populations. However, the prevalence rate and clinical characteristics of GT in non-consanguineous populations have been unclear. We analyzed 97 patients from 93 families with GT in the Han population in China. This analysis showed lower consanguinity (18...
August 2018: Clinical Genetics
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