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https://www.readbyqxmd.com/read/28901996/intracranial-hemorrhage-in-congenital-bleeding-disorders
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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...
April 29, 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
#10
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
https://www.readbyqxmd.com/read/28395882/should-studies-on-glanzmann-thrombasthenia-not-be-telling-us-more-about-cardiovascular-disease-and-other-major-illnesses
#11
REVIEW
Alan T Nurden
Glanzmann thrombasthenia (GT) is a rare inherited bleeding disorder caused by loss of αIIbβ3 integrin function in platelets. Most genetic variants of β3 also affect the widely expressed αvβ3 integrin. With brief mention of mouse models, I now look at the consequences of disease-causing ITGA2B and ITGB3 mutations on the non-hemostatic functions of platelets and other cells. Reports of arterial thrombosis in GT patients are rare, but other aspects of cardiovascular disease do occur including deep vein thrombosis and congenital heart defects...
April 4, 2017: Blood Reviews
https://www.readbyqxmd.com/read/28388959/autosomal-recessive-inherited-bleeding-disorders-in-pakistan-a-cross-sectional-study-from-selected-regions
#12
Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din Ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran, Tahir Sultan Shamsi
BACKGROUND: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann's thrombasthenia (GT) and Bernard-Soulier syndrome. Patients with primary bleeding disorders from all the major provincial capitals of Pakistan were screened for ARBDs. Prothrombin (PT), activated partial thromboplastin time (APTT), bleeding time (BT) and fibrinogen levels were measured...
April 7, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28370369/independent-adjudicator-assessments-of-platelet-refractoriness-and-rfviia-efficacy-in-bleeding-episodes-and-surgeries-from-the-multinational-glanzmann-s-thrombasthenia-registry
#13
Michael Recht, Madhvi Rajpurkar, Meera Chitlur, Roseline d'Oiron, Rainer Zotz, Giovanni Di Minno, David L Cooper, Man-Chiu Poon
Glanzmann's thrombasthenia (GT) is a rare congenital bleeding disorder associated with decreased platelet aggregation due to qualitative/quantitative deficiencies of the fibrinogen receptor. Severe bleeding episodes and perioperative bleeding are typically managed with platelet transfusions, although patients can develop anti-platelet antibodies or experience clinical refractoriness. The GT Registry (GTR) was established to collect efficacy/safety data on hemostatic treatments for GT, including recombinant factor VIIa (rFVIIa)...
July 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28341450/oral-surgery-in-patients-with-glanzmann-thrombasthenia-a-case-series
#14
Eleonora Segna, Andrea Artoni, Raffaele Sacco, Aldo Bruno Giannì
Glanzmann thrombasthenia is a severe defect of platelet function caused by an inherited deficiency or dysfunction of the glycoprotein IIb/IIIa complex, the platelet fibrinogen receptor. Patients with Glanzmann thrombasthenia experience lifelong spontaneous and post-traumatic mucocutaneous bleeding diathesis. Surgery is usually very challenging, requiring close cooperation among surgeons, hematologists, and anesthesiologists. For anatomic reasons, oral surgery is particularly difficult owing to the inherent risk of hemorrhage and the difficulty in achieving local hemostasis...
February 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28299211/epistaxis-as-a-common-presenting-symptom-of-glanzmann-s-thrombasthenia-a-rare-qualitative-platelet-disorder-illustrative-case-examples
#15
Michael Recht, Meera Chitlur, Derek Lam, Syana Sarnaik, Madhvi Rajpurkar, David L Cooper, Sriya Gunawardena
Children often present to emergency departments (EDs) with uncontrollable nose bleeding. Although usually due to benign etiologies, epistaxis may be the presenting symptom of an inherited bleeding disorder. Whereas most bleeding disorders are detected through standard hematologic assessments, diagnosing rare platelet function disorders may be challenging. Here we present two case reports and review diagnostic and management challenges of platelet function disorders with a focus on Glanzmann's thrombasthenia (GT)...
2017: Case Reports in Emergency Medicine
https://www.readbyqxmd.com/read/28292286/exome-sequencing-identifies-a-novel-ttc37-mutation-in-the-first-reported-case-of-trichohepatoenteric-syndrome-the-s-in-south-africa
#16
Craig Kinnear, Brigitte Glanzmann, Eric Banda, Nikola Schlechter, Glenda Durrheim, Annika Neethling, Etienne Nel, Mardelle Schoeman, Glynis Johnson, Paul D van Helden, Eileen G Hoal, Monika Esser, Michael Urban, Marlo Möller
BACKGROUND: Trichohepatoenteric syndrome (THE-S) or phenotypic diarrhoea of infancy is a rare autosomal recessive disorder characterised by severe infantile diarrhoea, facial dysmorphism, immunodeficiency and woolly hair. It was first described in 1982 in two infants with intractable diarrhoea, liver cirrhosis and abnormal hair structure on microscopy. We report on two siblings from a consanguineous family of Somali descent who, despite extensive clinical investigation, remained undiagnosed until their demise...
March 14, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28161816/identification-of-clinicopathological-spectrum-platelet-glycoprotein-iib-iiia-complex-and-platelet-antibodies-in-egyptian-children-with-glanzmann-s-thrombasthenia
#17
Asmaa M Zahran, Khaled Saad, Khalid I Elsayh, Mohamd A Alblihed, Mostafa Embaby
Glanzmann's thrombasthenia (GT) is a rare genetic bleeding disorder. The aim of our study was to evaluate the clinicopathological spectrum of this syndrome and to study the platelet glycoprotein IIb/IIIa complex and platelet antibodies by flow cytometry in a cohort of children with GT in a tertiary care center in Upper Egypt. Forty children with GT were assessed for the expression of GPIIb-IIIa on the platelet surface and platelet antibodies by using flow cytometry, to determine the most common GT subtypes among Egyptian children...
February 4, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28114794/change-of-coagulation-after-novoseven%C3%A2-use-for-bleeding-during-cardiac-surgery
#18
Emi Tomita, Hajime Takase, Keiichi Tajima, Yoshihiro Suematsu
Objectives Recombinant activated factor VII has been used for the treatment of hemophilia, factor VII deficiency, and Glanzmann's thrombasthenia. Off-label uses have recently been increasing, and there are reports that recombinant activated factor VII is effective for the treatment of excessive bleeding during or after cardiovascular surgery. We retrospectively reviewed the effectiveness of recombinant activated factor VII and its influence on the coagulation system as a treatment for uncontrollable bleeding during cardiovascular surgery...
February 2017: Asian Cardiovascular & Thoracic Annals
https://www.readbyqxmd.com/read/28096593/emergency-craniotomy-in-glanzmann-thrombasthenia-anesthetic-management-and-brief-review-of-literature
#19
Devi Prasad Dash, Abhuday Kumar, Babita Gupta
No abstract text is available yet for this article.
October 2016: Journal of Anaesthesiology, Clinical Pharmacology
https://www.readbyqxmd.com/read/28078347/alterations-of-the-platelet-proteome-in-type-i-glanzmann-thrombasthenia-caused-by-different-homozygous-delg-frameshift-mutations-in-itga2b
#20
Stefan Loroch, Katharina Trabold, Stepan Gambaryan, Cora Reiß, Kathrin Schwierczek, Ingrid Fleming, Albert Sickmann, Wolfgang Behnisch, Barbara Zieger, René P Zahedi, Ulrich Walter, Kerstin Jurk
Glanzmann thrombasthenia (GT) is one of the best characterized inherited platelet function disorders but global platelet proteome has not been determined in these patients. We investigated the proteome and function of platelets from two patients with type I GT, caused by different homozygous ITGA2b mutations, from family members and unrelated controls. The global proteome of highly purified washed platelets was quantified by liquid chromatography-mass spectrometry (LC-MS) and targeted MS-methods. Platelet function was analysed by flow cytometry, light transmission aggregometry and flow-based assays...
January 12, 2017: Thrombosis and Haemostasis
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