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D Boeckelmann, H Hengartner, A Greinacher, U Nowak-Göttl, U J Sachs, K Peter, K Sandrock-Lang, B Zieger
Bernard-Soulier syndrome is a rare (1:1million), hereditary bleeding disorder caused by defects of the platelet GPIb-IX-V complex. Patients suffer from mucocutaneous bleedings. Typical are thrombocytopenia, giant platelets and impaired agglutination after stimulation with ristocetin. In populations in which consanguineous marriages are common the frequency of the disorder is increased because Bernard-Soulier syndrome is mostly inherited autosomal recessively. Genetic analyses of the disease-related genes may help to gain more insights regarding the phenotype/genotype correlation...
January 22, 2017: Blood Cells, Molecules & Diseases
Lourdes Lopez-Onieva, Candela Machuca, Mar Lamolda, Rosa Montes, Maria Luisa Lozano, Vicente Vicente, José Rivera, Verónica Ramos-Mejía, Pedro J Real
Bernard Soulier Syndrome (BSS) is an inherited rare platelet disorder characterized by mutations in the platelet glycoprotein complex GPIb-IX-V. We generated an induced pluripotent stem cell (iPSC) line from a BSS patient with a mutation p.Asn45Ser in the GPIX locus (BSS2-PBMC-iPS4F24). Peripheral blood mononuclear cells were reprogrammed using non-integrative viral transduction. Characterization of BSS2-PBMC-iPS4F24 included mutational analysis of GPIX locus, analysis of conventional pluripotency-associated factors at mRNA and protein level and in vitro and in vivo differentiation studies...
November 8, 2016: Stem Cell Research
Lourdes Lopez-Onieva, Rosa Montes, Mar Lamolda, Tamara Romero, Verónica Ayllon, Maria Luisa Lozano, Vicente Vicente, José Rivera, Verónica Ramos-Mejía, Pedro J Real
No abstract text is available yet for this article.
September 2016: Stem Cell Research
Kamuran Karaman, Nesrin Ceylan, Erbil Karaman, Sinan Akbayram, Hatice Tuba Akbayram, Sultan Kaba, Mesut Garipardıç, Ahmet Fayik Öner
Bleeding disorders are a common cause of menorrhagia in the adolescent age group. We aimed to evaluate the incidence of hemostatic disorders, using clinical and laboratory findings of bleeding disorders in adolescent girls with menorrhagia. A retrospective chart review used to evaluate adolescent girls with menorrhagia who were referred to Yuzuncu Yil University Pediatric Hematology clinic between January 2010 and December 2014. Out of 52 patients referred for investigation, 50 patients were included in the study...
September 2016: Indian Journal of Hematology & Blood Transfusion
F Peyvandi, C P M Hayward
The genes encoding the coagulation factors were characterized over two decades ago. Since then, significant progress has been made in the genetic diagnosis of the two commonest severe inherited bleeding disorders, haemophilia A and B. Experience with the genetic of inherited rare bleeding disorders and platelet disorders is less well advanced. Rare bleeding disorders are usually inherited as autosomal recessive disorders, while it is now clear that a number of the more common platelet function disorders are inherited as autosomal dominant traits...
July 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
Lourdes Lopez-Onieva, Rosa Montes, Mar Lamolda, Tamara Romero, Verónica Ayllon, Maria Luisa Lozano, Vicente Vicente, José Rivera, Verónica Ramos-Mejía, Pedro J Real
We generated an induced pluripotent stem cell (iPSC) line from a Bernard-Soulier Syndrome (BSS) patient carrying the mutation p.Trp71Arg in the GPIX locus (BSS1-PBMC-iPS4F4). Peripheral blood mononuclear cells (PBMCs) were reprogrammed using heat sensitive non-integrative Sendai viruses containing the reprogramming factors Oct3/4, SOX2, KLF4 and c-MYC. Successful silencing of the exogenous reprogramming factors was checked by RT-PCR. Characterization of BSS1-PBMC-iPS4F4 included mutation analysis of GPIX locus, Short Tandem Repeats (STR) profiling, alkaline phosphatase enzymatic activity, analysis of conventional pluripotency-associated factors at mRNA and protein level and in vivo differentiation studies...
May 2016: Stem Cell Research
Shu Zhang, Corinne Pondarre, Gaelle Pennarun, Helene Labussiere-Wallet, Gabriella Vera, Benoit France, Marie Chansel, Isabelle Rouvet, Patrick Revy, Bernard Lopez, Jean Soulier, Pascale Bertrand, Isabelle Callebaut, Jean-Pierre de Villartay
Inherited bone marrow failure syndromes are human conditions in which one or several cell lineages of the hemopoietic system are affected. They are present at birth or may develop progressively. They are sometimes accompanied by other developmental anomalies. Three main molecular causes have been recognized to result in bone marrow failure syndromes: (1) defects in the Fanconi anemia (FA)/BRCA DNA repair pathway, (2) defects in telomere maintenance, and (3) abnormal ribosome biogenesis. We analyzed a patient with mild bone marrow failure and microcephaly who did not present with the typical FA phenotype...
May 30, 2016: Journal of Experimental Medicine
C Strassel, A Bull, S Moog, N Receveur, L Mallo, P Mangin, A Eckly, M Freund, A Dubart-Kupperschmitt, C Gachet, F Lanza
UNLABELLED: Essentials A signaling role of glycoprotein (GP)Ibβ is postulated but not formally demonstrated in platelets. Lentiviral-mediated rescue in knock-out mice can be used to evaluate GPIbβ function in vivo. Transduction of the native subunit corrected the main defects associated with GPIb-IX deficiency Deletion of intracellular 159-170 segment increased thrombosis, 150-160 removal increased bleeding. SUMMARY: Background The platelet glycoprotein (GP)Ib-V-IX complex is required for normal hemostasis and megakaryopoiesis...
July 2016: Journal of Thrombosis and Haemostasis: JTH
Harmanpreet Kaur, Munira Borhany, Hanan Azzam, Carolina Costa-Lima, Margareth Ozelo, Maha Othman
The main objective of this study is to investigate the utility of International Society on Thrombosis and Haemostasis-Bleeding Assessment Tool (ISTH-BAT) in comparison with the condensed form of Molecular and Clinical Markers for the Diagnosis and Management of type 1 and WHO BATs, in assessing bleeding in two well known and clinically significant platelet function defects. Thirty-eight patients previously diagnosed with Glanzmann's thrombasthenia and 10 with Bernard-Soulier syndrome (BSS) were analyzed. Bleeding scores were significantly higher than that of controls using both electronic bleeding questionnaire (eBQ) and ISTH-BAT with no significant difference between both tools...
July 2016: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
Teresa Fidalgo, Ramon Salvado, Irene Corrales, Silva Catarina Pinto, Nina Borràs, Ana Oliveira, Patricia Martinho, Gisela Ferreira, Helena Almeida, Cristina Oliveira, Dalila Marques, Elsa Gonçalves, MJoão Diniz, Margarida Antunes, Alice Tavares, Gonçalo Caetano, Paula Kjöllerström, Raquel Maia, Teresa S Sevivas, Francisco Vidal, Leticia Ribeiro
The diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency and heterogeneous laboratory phenotype. The sequencing of the entire VWF coding region has not yet become a routine practice in diagnostic laboratories owing to its high costs. Nevertheless, next-generation sequencing (NGS) has emerged as an alternative to overcome this limitation. We aimed to determine the correlation of genotype and phenotype in 92 Portuguese individuals from 60 unrelated families with VWD; therefore, we directly sequenced VWF...
July 4, 2016: Thrombosis and Haemostasis
Shahnaz Ali, Shrimati Shetty, Kanjaksha Ghosh
Inherited macrothrombocytopenia is one of the subgroup of inherited thrombocytopenias with variable bleeding tendencies presenting with low platelet count and giant platelets and different gene mutations are involved in its molecular pathophysiology and affect various cell functions. Herein, we describe a family with an isolated giant platelet disorder with variable bleeding diathesis with autosomal mode of inheritance.
January 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
Mohamed Smaoui, Sahar Elleuch, Sofien Abidi, Yasmine Ellouze, Doulira Louati, Moez Loumi, Kamel Kolsi
Bernard-Soulier syndrome is an inherited bleeding disorder. Due to the rarity of the combination of this syndrome and pregnancy, data on the clinical course and outcome of pregnancy in women with Bernard-Soulier syndrome is scattered in individual case reports and there is no consensus in the management of SBS. In some patients, the pregnancy course was uneventful while in others post partum hemorrhage was the most common complication. We report our experience about the perioperative management of a pregnant woman with Bernard-Soulier syndrome...
November 2015: Annales de Biologie Clinique
Muhammad Irfan Ul Haq, Muhammad Sohaib, Sobia Khan, Mohsin Nazir
No abstract text is available yet for this article.
July 2015: Journal of Anaesthesiology, Clinical Pharmacology
Jianlin Qiao, Amanda K Davis, Marie-Christine Morel-Kopp, Christopher M Ward, Elizabeth E Gardiner, Robert K Andrews
No abstract text is available yet for this article.
December 2015: Annals of Hematology
Juan Antonio Ruiz-Roca, Ricardo Elías Oñate-Sánchez, Maria del Carmen Cabrerizo-Merino, Francisco Javier Rodríguez-Lozano
No abstract text is available yet for this article.
September 2015: Journal of Craniofacial Surgery
Jiaming Li, KeSheng Dai, Zhaoyue Wang, Lijuan Cao, Xia Bai, Changgeng Ruan
Defects in filamin A (FLNA) gene could lead to low platelet counts and decreased surface expression of glycoprotein (GP) Ibα. Here, we report and investigate the FLNA genomic alteration of a case with Bernard-Soulier syndrome (BSS), a rare hereditary bleeding disorder caused by quantitative or qualitative abnormalities in the GP Ib-IX-V receptor. DNA sequencing analysis reveals the presence of a GP Ibα c.987G > A mutation and a FLNA c.1582 G > A mutation in this patient. Transient transfection studies show that GP Ibα c...
2015: Journal of Hematology & Oncology
Satomi Okano, Masashi Takase, Kenichi Iseki, Naohisa Toriumi, Makoto Kaneda, Shinji Kunishima
MYH9 disorder is a rare autosomal dominant disease characterized by congenital thrombocytopenia with giant platelets and leukocyte inclusion bodies and is often associated with Alport-like symptoms, such as glomerulonephritis, sensorineural hearing loss, and cataracts. We report a Japanese pedigree wherein the MYH9 p.R1165C mutation was present in over 4 generations. Three individuals were misdiagnosed as Bernard-Soulier syndrome carriers. Among the 12 patients with abnormal hematological features, the proband's mother, aunt, and grandaunt presented with sensorineural hearing impairment, and the mother presented with presenile cataract, and nephritis...
August 2015: Journal of Pediatric Hematology/oncology
Abdul Shlebak, Anthony Poles, Richard Manning, Shaikha Almuhareb, Josu De La Funte, Mike Mitchell, Geoff Lucas
BACKGROUND: Bernard-Soulier syndrome (BSS) is a congenital bleeding disorder characterised by thrombocytopenia, giant platelets and decreased platelet adhesion resulting from genetic alterations of the glycoprotein (GP) Ib/IX/V complex. OBJECTIVES: Three sisters with a lifelong bleeding history and a provisional diagnosis of BSS were referred for further characterisation of their bleeding diathesis. The siblings' symptoms varied in severity from skin and gum bleeding to menorrhagia associated with iron-deficiency anaemia requiring regular transfusion of red cells and platelets...
2015: Acta Haematologica
Marina Barguil Macêdo, Janaína de Moraes Machado Brito, Plínio da Silva Macêdo, José Araújo Brito
BACKGROUND: Bernard-Soulier Syndrome is a rare congenital bleeding disorder, mainly inherited in an autosomal recessive pattern. It is characterized by a genetic defect on one of the four genes encoding the subunits of the transmembrane protein complex GPIb-V-IX, physiologically expressed only in platelets. The exact phenotype varies widely from individual to individual depending on the particular mutation presented. Currently, there is no consensus about ideal management of affected pregnant women, in face of the scarcity of cases...
2015: BMC Research Notes
Zhan-Chao Li, Wen-Qian Zhong, Zhi-Qing Liu, Meng-Hua Huang, Yun Xie, Zong Dai, Xiao-Yong Zou
Identifying potential drug target proteins is a crucial step in the process of drug discovery and plays a key role in the study of the molecular mechanisms of disease. Based on the fact that the majority of proteins exert their functions through interacting with each other, we propose a method to recognize target proteins by using the human protein-protein interaction network and graph theory. In the network, vertexes and edges are weighted by using the confidence scores of interactions and descriptors of protein primary structure, respectively...
April 29, 2015: Analytica Chimica Acta
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