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https://www.readbyqxmd.com/read/29152293/allogeneic-hematopoietic-cell-transplantation-in-an-adult-patient-with-glanzmann-thrombasthenia
#1
Ana R Cid, Pau Montesinos, Isabel Sánchez-Guiu, Saturnino Haya, Jose I Lorenzo, Jaime Sanz, Federico Moscardo, Nieves Puig, Dolores Planelles, Santiago Bonanad, Guillermo F Sanz, Vicente Vicente, Consuelo González-Manchón, María L Lozano, José Rivera, Miguel A Sanz
Glanzmann thrombasthenia is a rare bleeding disorder that can present life-threatening bleeding. Our patients develop antiplatelet antibodies that become refractory to any pharmacological treatment. Allogeneic hematopoietic stem-cell transplantation is the only currently curative procedure, but has major risks mainly in adult; indeed, our patient died.
November 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29135309/screening-for-platelet-function-disorders-with-multiplate-and-platelet-function-analyzer
#2
Floor C J I Moenen, Minka J A Vries, Patricia J Nelemans, Katrien J M van Rooy, Jeannique R R A Vranken, Paul W M Verhezen, Rick J H Wetzels, Hugo Ten Cate, Harry C Schouten, Erik A M Beckers, Yvonne M C Henskens
Light transmission aggregation (LTA) is the gold standard for the diagnosis of platelet function disorders (PFDs), but it is time-consuming and limited to specialized laboratories. Whole-blood impedance aggregometry (Multiplate) and platelet function analyzer (PFA) may be used as rapid screening tools to exclude PFDs. The aim of this study is to assess the diagnostic performance of Multiplate and PFA for PFDs, as detected by LTA.Data from preoperative patients, patients referred to the hematologist for bleeding evaluation, and patients with a diagnosed bleeding disorder were used...
November 14, 2017: Platelets
https://www.readbyqxmd.com/read/29125375/itga2b-and-itgb3-gene-mutations-associated-with-glanzmann-thrombasthenia
#3
Alan T Nurden, Xavier Pillois
No abstract text is available yet for this article.
November 10, 2017: Platelets
https://www.readbyqxmd.com/read/29090587/challenges-on-the-diagnostic-approach-of-inherited-platelet-function-disorders-is-a-paradigm-change-necessary
#4
Tiago Nava, Georges-Etienne Rivard, Arnaud Bonnefoy
Inherited platelet function disorders (IPFD) have been assessed for more than 50 years by aggregation- and secretion-based tests. Several decision trees are available intending to standardize the investigation of IPFD. A large variability of approaches is still in use among the laboratories across the world. In spite of costly and lengthy laboratory evaluation, the results have been found inconclusive or negative in a significant part of patients having bleeding manifestations. Molecular investigation of newly identified IPFD has recently contributed to a better understanding of the complexity of platelet function...
November 1, 2017: Platelets
https://www.readbyqxmd.com/read/29084015/molecular-characterization-of-glanzmann-s-thrombasthenia-in-iran-identification-of-three-novel-mutations
#5
Ahmad Kazemi, Hassan Abolghasemi, Shima Kazemzadeh, Reza Vahidi, Mohammad Faranoush, Alireza Farsinejad, Fereydoun Ala
: Quantitative and/or qualitative defects of the platelet membrane glycoprotein IIb/IIIa complex lead to the clinical entity of Glanzmann's thrombasthenia. A large variety of mutations and polymorphisms are responsible for the aberrant expression and defective activity of this heterodimeric complex. The current study aimed to determine the pattern of mutations among Iranian population with Glanzmann's thrombasthenia. A total of 20 patients with Glanzmann's thrombasthenia have been evaluated. All exons and splice sites of ITGA2B and ITGB3 genes were amplified using touchdown PCR...
October 27, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29080903/human-endoglin-as-a-potential-new-partner-involved-in-platelet-endothelium-interactions
#6
Elisa Rossi, Miguel Pericacho, Christilla Bachelot-Loza, Dominique Pidard, Pascale Gaussem, Sonia Poirault-Chassac, Francisco J Blanco, Carmen Langa, Consuelo González-Manchón, Jose M Lopez Novoa, David M Smadja, Carmelo Bernabeu
Complex interactions between platelets and activated endothelium occur during the thrombo-inflammatory reaction at sites of vascular injuries and during vascular hemostasis. The endothelial receptor endoglin is involved in inflammation through integrin-mediated leukocyte adhesion and transmigration; and heterozygous mutations in the endoglin gene cause hereditary hemorrhagic telangiectasia type 1. This vascular disease is characterized by a bleeding tendency that is postulated to be a consequence of telangiectasia fragility rather than a platelet defect, since platelets display normal functions in vitro in this condition...
October 28, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29063905/a-rare-case-of-bleeding-disorder-glanzmann-s-thrombasthenia
#7
Jami Swathi, A Gowrishankar, S A Jayakumar, Karun Jain
BACKGROUND: Glanzmann's thrombasthenia (GT) is a rare bleeding disorder, which is characterized by a lack of platelet aggregation. It is characterized by qualitative or quantitative abnormalities of the platelet membrane glycoprotein IIb/IIIa. Physiologically, this platelet receptor normally binds several adhesive plasma proteins, and this facilitates attachment and aggregation of platelets to ensure thrombus formation at sites of vascular injury. The lack of resultant platelet aggregation in GT leads to mucocutaneous bleeding whose manifestation may be clinically variable, ranging from easy bruising to severe and potentially life-threatening hemorrhages...
October 2017: Annals of African Medicine
https://www.readbyqxmd.com/read/28994690/perioperative-management-of-a-patient-with-glanzmann-s-thrombasthenia-for-mitral-valve-repair-under-cardiopulmonary-bypass
#8
Parimala Prasanna Simha, Prasanna Simha Mohan Rao, Deepak Arakalgud, Rakesh Rajashekharappa, Manjunath Narasimhaih
A 30-year-old male patient presented with Glanzmann's thrombasthenia and mitral valve prolapse. He was in acute decompensated congestive heart failure due to severe mitral and tricuspid regurgitation. After his cardiac failure had been stabilized, the patient was subjected to mitral and tricuspid valve repair. His transfusion requirements were guided by thrombelastography and his bleeding disorder was managed by infusing single donor plasmapheresed platelet transfusions in the perioperative period. The patient underwent surgery uneventfully...
October 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28960123/assessment-of-platelet-function-on-the-routine-coagulation-analyzer-sysmex-cs-2000i
#9
Corinne Frère, Katsushi Kobayashi, Claire Dunois, Jean Amiral, Pierre-Emmanuel Morange, Marie-Christine Alessi
BACKGROUND: Light transmission aggregometry (LTA) is considered as the gold standard for testing platelet function in the setting of both platelet disorders suspicion and response to antiplatelet therapy evaluation. LTA requires however specialized equipment, substantial blood sample volumes, is technically challenging and time-consuming. AIM: To evaluate an automated platelet aggregation method performed on a routine coagulation analyzer Sysmex CS-2000i. METHODS: 46 patients presenting a bleeding syndrome and 62 patients with acute coronary syndrome receiving dual antiplatelet therapy were studied in total...
September 29, 2017: Platelets
https://www.readbyqxmd.com/read/28948953/evaluation-of-platelet-surface-glycoproteins-in-patients-with-glanzmann-thrombasthenia-association-with-bleeding-symptoms
#10
Deepti Mutreja, Rahul Kumar Sharma, Abhishek Purohit, Mukul Aggarwal, Renu Saxena
BACKGROUND & OBJECTIVES: Glanzmann thrombasthenia (GT) is a rare, inherited autosomal recessive disorder characterized by qualitative or quantitative deficiency of integrin αIIbβ3 [glycoprotein IIb (GPIIb)/IIIa, CD41/CD61] diagnosed by absent or reduced platelet aggregation to physiological agonists, namely, collagen, adenosine-di-phosphate, epinephrine and arachidonic acid. The objective of this study was to quantitate platelet surface GPs, classify GT patients and relate the results with the severity of bleeding and platelet aggregation studies...
May 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28901996/intracranial-hemorrhage-in-congenital-bleeding-disorders
#11
Shadi Tabibian, Hoda Motlagh, Majid Naderi, Akbar Dorgalaleh
: Intracranial hemorrhage (ICH), as a life-threatening bleeding among all kinds of congenital bleeding disorders (CBDs), is a rare manifestation except in factor XIII (FXIII) deficiency, which is accompanied by ICH, early in life, in about one-third of patients. Most inherited platelet function disorders (IPFDs) are mild to moderate bleeding disorders that can never experience a severe bleeding as in ICH; however, Glanzmann's thrombasthenia, a common and severe inherited platelet function disorder, can lead to ICH and occasional death...
September 9, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28893236/neutrophil-lymphocyte-ratio-complements-volumetric-staging-as-prognostic-factor-in-patients-treated-with-definitive-radiotherapy-for-oropharyngeal-cancer
#12
Cédric Panje, Oliver Riesterer, Christoph Glanzmann, Gabriela Studer
BACKGROUND: Volumetric tumor staging has been shown as superior prognostic tool compared to the conventional TNM system in patients undergoing definitive intensity-modulated radiotherapy (IMRT) for head and neck cancer. Recently, clinical immunoscores such as the neutrophil-lymphocyte ratio (NLR) have been investigated as prognostic markers in several tumor entities. The aim of this study was to assess the combined prognostic value of NLR and tumor volume in patients treated with IMRT for oropharyngeal cancer (OC)...
September 11, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28888044/novel-mutations-in-thai-patients-with-glanzmann-thrombasthenia
#13
Rungnapa Ittiwut, Pintip Suchartlikitwong, Yaowaree Kittikalayawong, Chupong Ittiwut, Karan Prasopsanti, Darintr Sosothikul, Vorasuk Shotelersuk, Kanya Suphapeetiporn
OBJECTIVES: Glanzmann thrombasthenia (GT) is an autosomal recessive platelet disorder, caused by defects of the platelet integrin αIIbβ3 (GPIIb/IIIa) resulting from pathogenic mutations in either ITGA2B or ITGB3. It is characterized by spontaneous mucocutaneous bleeding. The molecular features of GT in Thailand have not been identified. This study aimed to determine the clinical and molecular features of unrelated Thai patients with GT. METHODS: Four patients with clinically suspected GT were recruited at the Division of Pediatric Hematology/Oncology, King Chulalongkorn Memorial Hospital...
September 9, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28881521/-diagnostic-analysis-of-glanzmann-thrombasthenia-caused-by-two-novel-itga2b-gene-mutations
#14
A X Sun, X L Yi, Q Mao
No abstract text is available yet for this article.
September 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28808266/in-silico-analysis-of-glanzmann-variants-of-calf-1-domain-of-%C3%AE-iib%C3%AE-3-integrin-revealed-dynamic-allosteric-effect
#15
Matthieu Goguet, Tarun Jairaj Narwani, Rachel Petermann, Vincent Jallu, Alexandre G de Brevern
Integrin αIIbβ3 mediates platelet aggregation and thrombus formation. In a rare hereditary bleeding disorder, Glanzmann thrombasthenia (GT), αIIbβ3 expression / function are impaired. The impact of deleterious missense mutations on the complex structure remains unclear. Long independent molecular dynamics (MD) simulations were performed for 7 GT variants and reference structure of the Calf-1 domain of αIIb. Simulations were analysed using a structural alphabet to describe local protein conformations. Common and flexible regions as well as deformable zones were observed in all the structures...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28670433/thalidomide-for-the-treatment-of-gastrointestinal-bleeding-due-to-angiodysplasia-in-a-patient-with-glanzmann-s-thrombasthenia
#16
Bruno K L Duarte, Sílvia M de Souza, Carolina Costa-Lima, Samuel S Medina, Margareth C Ozelo
Angiodysplasia is a frequent cause of persistent gastrointestinal (GI) hemorrhage in elderly patients. Although GI bleeding isn't the most common manifestation in patients with bleeding disorders, when present, it represents a challenging complication. We describe a 62-year-old patient with Glanzmann's thrombasthenia, who used thalidomide for severe and recurrent GI bleeding. For 6 months, the patient experienced temporary control of GI bleeding with thalidomide in a daily oral dose of 100 mg. The anti-angiogenic effects of thalidomide have recently been explored by several groups, particularly in the management of bleeding from angiodysplasia, including cases with von Willebrand disease...
June 1, 2017: Hematology Reports
https://www.readbyqxmd.com/read/28658773/haemostatic-disorder-in-women-with-unexplained-menorrhagia-a-tertiary-care-centre-experience-from-northern-india
#17
Rashmi Kushwaha, Ashutosh Kumar, Kusum Lata Mishra, Pushp Lata Sankhwar, Renu Singh
INTRODUCTION: Menorrhagia is a common gynaecological problem and its cause remains unexplained in a significant proportion of females. AIM: The present study was done to diagnose a wide range of haemostatic disorders which can give rise to menorrhagia in women of adolescent, postadolescent and perimenopausal age group. MATERIALS AND METHODS: A total of 1100 women presenting to gynaecological emergency with complaints of menorrhagia underwent comprehensive evaluation...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28604077/-activated-factor-vii-31-years-experience-on-clinical-grounds
#18
REVIEW
Miklós Udvardy
The author provides an overview of the use of recombinant activated FVII (rFVIIa, Novoseven), which is used over 30 years, based upon international publications and also on some modest own experience. Standard, approved indications (inhibitory cases, Glanzmann thrombasthenia, prophylaxis experience) are in the focus of this paper, emphasizing the specially rapid and efficacious way of Novoseven therapy, drawing attention to excellent safety issues regarding very low immunogenicity along with low number of thrombogenic complications...
June 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28457011/diagnosis-of-inherited-platelet-disorders-on-a-blood-smear-a-tool-to-facilitate-worldwide-diagnosis-of-platelet-disorders
#19
A Greinacher, A Pecci, S Kunishima, K Althaus, P Nurden, C L Balduini, T Bakchoul
Essentials There are many hereditary platelet disorders (HPD) but diagnosing these is challenging. We provide a method to diagnose several HPDs using standard blood smears requiring < 100 µL blood. By this approach, the underlying cause of HPD was characterized in ~25-30% of referred individuals. The method facilitates diagnosis of HPD for patients of all ages around the world. SUMMARY: Background Many hereditary thrombocytopenias and/or platelet function disorders have been identified, but diagnosis of these conditions remains challenging...
July 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28435309/recognition-and-management-of-platelet-refractory-bleeding-in-patients-with-glanzmann-s-thrombasthenia-and-other-severe-platelet-function-disorders
#20
Meera Chitlur, Madhvi Rajpurkar, Michael Recht, Michael D Tarantino, Donald L Yee, David L Cooper, Sriya Gunawardena
Patients with rare qualitative platelet disorders or platelet function disorders (PFDs) may present to the hospital physician with severe bleeding episodes or excessive surgical bleeding. Although standard treatment consists of platelet transfusions, repeated transfusions may result in the development of antiplatelet antibodies (APA) or clinical refractoriness, rendering further platelet therapy ineffective. In such settings, an approved treatment option for patients with Glanzmann's thrombasthenia (GT), one of the well-known rare PFDs, is recombinant activated coagulation factor VII (rFVIIa)...
2017: International Journal of General Medicine
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