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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
Keigo Akuta, Hirokazu Kashiwagi, Toshiaki Yujiri, Nobuko Nishiura, Yoichiro Morikawa, Hisashi Kato, Shigenori Honda, Yuzuru Kanakura, Yoshiaki Tomiyama
BACKGROUND: Acquired Glanzmann thrombasthenia (aGT) is a bleeding disorder generally caused by function-blocking anti-αIIbβ3 autoantibodies. AIM: We characterize an unusual case of aGT caused by marked reduction of surface αIIbβ3 with non function-blocking anti-αIIbβ3 antibodies (Abs). METHODS: A 72 year-old male suffering from immune thrombocytopenia since his 50's showed exacerbation of bleeding symptom despite of mild thrombocytopenia...
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...
October 12, 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
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
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
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
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
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
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
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
Frances Buckley, Alan Norris, Ron Kerr
No abstract text is available yet for this article.
2018: Acta Haematologica
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