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Christoph Glanzmann, Gabriela Studer
No abstract text is available yet for this article.
January 7, 2019: Deutsches Ärzteblatt International
Nidal Karim Al-Rahal
Background: Consanguineous marriage is defined as inbreeding between second cousins or closer. In such families there will be a potential increase in the autosomal recessive traits with its lethal effect, with an increased risk of morbidity and mortality in the new generation. Inherited bleeding disorders (InBDs) are rare complicated diseases, difficult and expensive to treat, the defect usually due to quantitative or qualitative deficiency of clotting factors, platelets or fibrinolysis. This study attempts to assess the diversity, the frequency and the clinical features of inherited bleeding disorders (InBDs) in central part of Iraq and to determine the state of consanguineous marriage...
October 1, 2018: International Journal of Hematology-oncology and Stem Cell Research
Michael Hackl, Kilian Wegmann, Boris Hollinger, Bilal F El-Zayat, Dominik Seybold, Thorsten Gühring, Marc Schnetzke, Kay Schmidt-Horlohé, Stefan Greiner, Helmut Lill, Alexander Ellwein, Michael C Glanzmann, Sebastian Siebenlist, Martin Jäger, Jörg Weber, Lars P Müller
BACKGROUND: Radial head fractures lead to persisting disability in a considerable number of cases. This study aimed to investigate their most common revision causes and procedures. METHODS: This multicenter retrospective study reviewed the cases of 466 adult patients who had undergone surgical revision after operative or nonoperative treatment of a radial head fracture. The initial diagnosis was a Mason type I fracture in 13.0%, Mason type II fracture in 14.6%, Mason type III fracture in 22...
February 1, 2019: Journal of Shoulder and Elbow Surgery
Luan Cartaxo Félix, Madiana Magalhães Moreira, Francisco Artur Forte Oliveira, Clarissa Pessoa Fernandes, Mario Rogério Lima Mota, Ana Paula Negreiros Nunes Alves, Fabrício Bitu Sousa
Glanzmann thrombasthenia (GT) is a rare genetic disorder that alters platelet function. The clinical manifestations include purpura, epistaxis, gingival bleeding, and menorrhagia. For patients with GT, conventional surgical dental treatment may result in hemorrhagic complications. There are many reported ways to prevent hemorrhage in patients with GT during surgical procedures but no standardized recommendations. In this case study, a woman diagnosed with GT required 2 types of surgery (periodontal surgery and third molar extractions), which were performed on separate days...
January 2019: General Dentistry
Sarina Levy-Mendelovich, Tamara Levy, Ivan Budnik, Assaf Arie Barg, Nurit Rosenberg, Uri Seligsohn, Gili Kenet, Tami Livnat
INTRODUCTION:  Glanzmann thrombasthenia (GT) is a rare bleeding disorder. The disease is caused by the lack or dysfunction of platelet membrane glycoprotein IIb/IIIa (integrin αIIbβ3) which is essential for platelet aggregation. Bleeding episodes are usually managed by platelet transfusions. Recombinant activated factor VII (rFVIIa) is a common adjunct or alternative treatment option. OBJECTIVE:  This article evaluates GT patients' response to increasing concentrations of rFVIIa using an ex vivo thrombin generation assay to elaborate the knowledge in which rFVIIa treats a platelet dysfunction for bleeding episodes and preoperative management...
January 2019: Thrombosis and Haemostasis
Dearbhla Doherty, Evelyn Singleton, Mary Byrne, Kevin Ryan, Niamh M O'Connell, James S O'Donnell, Michelle Lavin
Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder caused by a defect in platelet integrin αIIbβ3. Given the rarity of the condition (1/1,000,000), assessment and diagnosis should be undertaken in a specialist centre. We report the case of a 34 year old woman with severe menorrhagia and a childhood diagnosis from another centre of Von Willebrand Disease. She had an extensive bleeding history, with epistaxis, menorrhagia and postoperative bleeding requiring multiple previous transfusions...
December 5, 2018: Transfusion and Apheresis Science
Johanna P van Geffen, Sanne L N Brouns, Joana Batista, Harriet McKinney, Carly Kempster, Magdolna Nagy, Suthesh Sivapalaratnam, Constance C F M J Baaten, Nikki Bourry, Mattia Frontini, Kerstin Jurk, Manuela Krause, Daniele Pillitteri, Frauke Swieringa, Remco Verdoold, Rachel Cavill, Marijke J E Kuijpers, Willem H Ouwehand, Kate Downes, Johan W M Heemskerk
In combination with microspotting, whole-blood microfluidics can provide high-throughput information on multiple platelet functions in thrombus formation. Based on assessment of the inter- and intra-subject variability in parameters of microspot-based thrombus formation, we aimed to determine the platelet factors contributing to this variation. Blood samples from 94 genotyped healthy subjects were analysed for conventional platelet phenotyping: i.e. haematological parameters, platelet glycoprotein expression levels and activation markers (24 parameters)...
December 13, 2018: Haematologica
Elizabeth Sarah Mayne, Malcolm Tait, Barry Frank Jacobson, Evashin Pillay, Susan J Louw
Background: Autoimmune paraphenomena, are associated with B-cell lymphoproliferative disorders, including monoclonal gammopathy of uncertain significance. These paraphenomena can rarely include acquired bleeding disorders. Case presentation: This case study reports an unusual clinical presentation of 2 acquired bleeding disorders, Acquired von Willebrand syndrome (disease) and Acquired Glanzmann's thrombasthenia, in an elderly patient with monoclonal gammopathy of uncertain significance...
2018: Thrombosis Journal
Tony Prud'homme, Elisabeth Roy, Assem Soueidan, Marc Fouassier, Sylvie Dajean-Trutaud, Zahi Badran
Localized aggressive periodontitis (LAP) in child involving primary dentition is a rare disease. The main characteristics of LAP are deep periodontal pockets, bone loss, tooth mobility, and, sometimes, spontaneous tooth loss. The LAP involves only some specific teeth. Glanzmann's thrombasthenia (GT) is a rare autosomal recessive bleeding disorder. The paper's aim is to present the case of a 5-year-old girl with GT presenting LAP, and discuss her clinical management. How to cite this article: Prud'homme T, Roy E, Soueidan A, Fouassier M, Dajean-Trutaud S, Badran Z...
July 2018: International Journal of Clinical Pediatric Dentistry
K Akuta, H Kashiwagi, T Yujiri, N Nishiura, Y Morikawa, H Kato, S Honda, Y Kanakura, Y Tomiyama
Essentials Acquired Glanzmann thrombasthenia (aGT) is generally caused by function-blocking antibodies (Abs). We demonstrated a unique aGT case due to marked reduction of αIIbβ3 with anti-αIIbβ3 Abs. The anti-αIIbβ3 Abs of the patient did not inhibit platelet function but reduced surface αIIbβ3. Internalization of αIIbβ3 induced by the Abs binding may be responsible for the phenotype. SUMMARY: Background Acquired Glanzmann thrombasthenia (aGT) is a bleeding disorder generally caused by function-blocking anti-αIIbβ3 autoantibodies...
November 2, 2018: Journal of Thrombosis and Haemostasis: JTH
S J Lyu, W R Ren, H L Zhu, T Liu
Objective: To review the clinical characteristics of a pedigree with inherited hemorrhagic disease to explore its molecular pathogenesis. Methods: The clinical data of the pedigree with inherited hemorrhagic disease were collected. After extracting DNA, next generation sequencing was utilized to detect the potential gene mutation. The changes of RASGRP2 transcript of this proband and his parents were detected using RT-PCR to compare with normal control. Results: The phenotype of the proband in this pedigree with inherited platelet dysfunction and bleeding disorder was similar to variant Glanzmann's thrombasthenia, the maximum aggregations of platelet in response to the physiological agonists including ADP, epinephrine and arachidonic acid were significantly lower, leading to severe spontaneous mucosal bleeding...
October 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
Chaker Aloui, Tahar Chakroun, Viviana Granados, Saloua Jemni-Yacoub, Jocelyne Fagan, Abderrahim Khelif, Najoua Kahloul, Sabeur Hammami, Latifa Chkioua, Céline Barlier, Fabrice Cognasse, Sandrine Laradi, Olivier Garraud
: Glanzmann thrombasthenia is an inherited severe bleeding disease. Mutations associated with Glanzmann thrombasthenia are highly heterogeneous and occur across the two genes coding for the platelet αIIbβ3 integrin. This study was aimed at identifying Glanzmann thrombasthenia-associated novel mutations in Tunisian patients. Seven unrelated Glanzmann thrombasthenia patients issued from high consanguineous families (86%; 6/7 of the patients) were studied. Glanzmann thrombasthenia diagnoses were based on patients' bleeding histories and platelet aggregation tests...
December 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
Anastasia A Ignatova, Evgeniya A Ponomarenko, Dmitry M Polokhov, Elena V Suntsova, Pavel A Zharkov, Daria V Fedorova, Ekaterina N Balashova, Anastasia E Rudneva, Vadim V Ptushkin, Evgeniy A Nikitin, Anna Shcherbina, Alexei A Maschan, Galina A Novichkova, Mikhail A Panteleev
The ability of platelets to carry out their hemostatic function can be impaired in a wide range of inherited and acquired conditions: trauma, surgery, inflammation, pre-term birth, sepsis, hematological malignancies, solid tumors, chemotherapy, autoimmune disorders, and many others. Evaluation of this impairment is vitally important for research and clinical purposes. This problem is particularly pronounced in pediatric patients, where these conditions occur frequently, while blood volume and the choice of blood collection methods could be limited...
October 4, 2018: Platelets
Rocco Franco, Michele Miranda, Laura Di Renzo, Antonino De Lorenzo, Alberta Barlattani, Patrizio Bollero
Glanzmann's thrombastenia (GT) is the most frequent inherited condition. GT is a genetic autosomal recessive disease caused by the alteration of the genes ITGA2B and ITGB3, located on the chromosome 17. The incidence of GT is calculated in 1 on 1000000. The patients, during their life, show episodes of mucocutaneous bleeding, epistaxis, and gingival bleeding. Some subjects required continuous bleeding transfusion. The aim of this case report is to demonstrate that oral assumption of tranexamic acid is a gold standard to prevent excessive bleeding...
2018: Case Reports in Dentistry
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
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
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]
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
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
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...
October 2018: Transfusion Medicine Reviews
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