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Brigitte Glanzmann, Marlo Möller, Nikki le Roex, Gerard Tromp, Eileen G Hoal, Paul D van Helden
BACKGROUND: The African buffalo (Syncerus caffer) is an important role player in the savannah ecosystem. It has become a species of relevance because of its role as a wildlife maintenance host for an array of infectious and zoonotic diseases some of which include corridor disease, foot-and-mouth disease and bovine tuberculosis. To date, no complete genome sequence for S. caffer had been available for study and the genomes of other species such as the domestic cow (Bos taurus) had been used as a proxy for any genetics analysis conducted on this species...
December 7, 2016: BMC Genomics
Yuki Mukai, Stefan Janssen, Christoph Glanzmann, David Holzmann, Gabriela Studer
OBJECTIVE: This study aims to evaluate local control and intermediate-term cosmetic outcome in patients with cancer of the nose treated with intensity-modulated radiotherapy (IMRT). METHODS: From June 2008 to September 2015, 36 consecutive patients presenting with nasal cavity, ala of the nose, or nasal vestibule tumors were treated at the Department of Radiation Oncology, University Hospital Zurich either postoperatively (n = 14; 3/14 with nasal ablation) or with definitive IMRT (n = 22)...
December 5, 2016: Strahlentherapie und Onkologie: Organ der Deutschen Röntgengesellschaft ... [et Al]
A Wijemanne, I Watt-Coote, S Austin
Glanzmann thrombasthenia is a rare autosomal recessive haemorrhagic disorder. The risks of miscarriage, antepartum and postpartum haemorrhage, and neonatal complications are all increased in individuals presenting with the disease in pregnancy. Some individuals may develop antibodies to platelet glycoproteins; the presence of these antibodies is a rare cause of neonatal alloimmune thrombocytopenia and potential intracranial haemorrhage. Multidisciplinary care is paramount for ensuring optimal fetal and maternal outcomes in such cases...
December 2016: Obstetric Medicine
Michael C Glanzmann, Christoph Kolling, Hans-Kaspar Schwyzer, Matthias Flury, Laurent Audigé
PURPOSE: This study compared clinical and radiographic outcomes of patients undergoing resurfacing total shoulder arthroplasty (TSA) with those treated with a stemmed TSA. METHODS: Patients with primary osteoarthritis who underwent humeral resurfacing (RES) or stemmed (STA) TSA were identified in our shoulder arthroplasty register for retrospective analysis. Standard radiographs and clinical/patient-rated assessments were made up to 24 months post-surgery. Implant revisions were assessed...
October 19, 2016: International Orthopaedics
Luciana Maria Ribeiro Antinarelli, Isabela de Oliveira Souza, Nicolas Glanzmann, Ayla das Chagas Almeida, Gabriane Nascimento Porcino, Eveline Gomes Vasconcelos, Adilson David da Silva, Elaine Soares Coimbra
In this study, we have investigated the antileishmanial activity of ten 7-chloro-4-quinolinylhydrazone derivatives. Among the compounds tested, compounds 2a and 2j presented activity against promastigotes (IC50 values of 52.5 and 21.1 μM, respectively) and compounds 2a and 2c were active against intracellular amastigotes (IC50 of 8.1 and 15.6 μM, respectively) of Leishmania amazonensis. The majority of compounds did not show toxicity against murine macrophages. Compound 2a exhibited low cytotoxicity to human erythrocytes and induced an oxidative imbalance in promastigote forms, reflected by an increase in the formation of reactive oxygen species (ROS) and a reduction of mitochondrial membrane potential...
October 12, 2016: Experimental Parasitology
Yoshiyuki Ogawa, Shinji Kunishima, Kunio Yanagisawa, Yohei Osaki, Yuri Uchiyama, Naomichi Matsumoto, Hideaki Tokiniwa, Jun Horiguchi, Yoshihisa Nojima, Hiroshi Handa
Perioperative hemostatic management is a challenge in patients with Glanzmann thrombasthenia (GT). The standard means of preventing surgical bleeding in GT patients is platelet transfusion. However, GT patients often possess alloantibodies against GPIIb/IIIa and/or HLA, which cause resistance to platelet transfusion. HLA-matched platelet transfusion, plasmapheresis, or recombinant human-activated factor VII (rFVIIa) are alternative interventions in such cases. Monitoring of hemostasis is also critical in the management of GT patients who undergo surgery...
October 1, 2016: International Journal of Hematology
Irem Iqbal, Saima Farhan, Nisar Ahmed
OBJECTIVE: To describe the clinical presentation of patients with Glanzmann's thrombasthenia (GT) and evaluate their diagnostic, clinical, and laboratory parameters including platelet aggregometry. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Hematology and Blood Transfusion, The Children Hospital and Institute of Child Health, Lahore, from January 2006 to December 2013. METHODOLOGY: Patients presenting with mucocutaneous bleeding during study period and evaluated for diagnosis of inherited platelet function disorder, were included...
August 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
A Eghbali, L Melikof, H Taherahmadi, B Bagheri
INTRODUCTION: Reducing bleeding episodes is very important in haematology disorders like von Willebrand disease (VWD) and Glanzmann thrombasthenia (GT). Replacement factors are very expensive although prophylactic drugs are affordable. OBJECTIVE: To study the prophylactic effects of tranexamic acid (TXA) for reduction of bleeding episodes in patients with VWD and GT in non-invasive conditions. METHODS: A controlled, double-blind before and after single-centre trial was performed in Amir-Kabir Hospital (Arak, Iran)...
September 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
Xavier Pillois, Alan T Nurden
We recently reported mutation analysis of the largest cohort of Glanzmann thrombasthenia (GT) patients so far examined. Sanger sequencing of coding regions, splice sites, upstream and downstream regions of the ITGA2B and ITGB3 genes identified 78 causal genetic variants (55 novel); 4 large deletions or duplications were also detected. We have now analysed the expression of non-causal gene polymorphisms in the sequenced regions of both genes in selected members of this cohort. We identified 10 mostly silent variants in ITGA2B and 37 in ITGB3; all were present in control donor databases...
November 2016: British Journal of Haematology
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
Brigitte Glanzmann, Hendri Herbst, Craig J Kinnear, Marlo Möller, Junaid Gamieldien, Soraya Bardien
BACKGROUND: Whole exome sequencing (WES) has provided a means for researchers to gain access to a highly enriched subset of the human genome in which to search for variants that are likely to be pathogenic and possibly provide important insights into disease mechanisms. In developing countries, bioinformatics capacity and expertise is severely limited and wet bench scientists are required to take on the challenging task of understanding and implementing the barrage of bioinformatics tools that are available to them...
2016: Source Code for Biology and Medicine
Ahmet Topal, Alper Kılıçaslan, Atilla Erol, Barış Çankaya, Şeref Otelcioğlu
Glanzmann thrombastenia (GT) is a rare disease of an autosomal recessive inheritance characterized with fatal bleeding tendency. The anaesthesiologist should be cognizant of the risk involved and be prepared with necessary measures. In this paper, we present a GT case of a 9-year-old male with hypospadias, which was successfully repaired after platelet transfusions according to the thromboelastography tracings.
August 2014: Turkish Journal of Anaesthesiology and Reanimation
Michelle L Brown, Christoph Glanzmann, Gerhard Huber, Marius Bredell, Tamara Rordorf, Gabriela Studer
OBJECTIVE: Elderly patients with malignant head-and-neck tumors (HNT) often pose a therapeutic challenge. They frequently have significant comorbidities which may influence their ability to tolerate tumor-specific therapies. Our aim was to investigate the outcome of patients aged 80+ years undergoing curative intent intensity- or volume-modulated radiation therapy (IMRT/VMAT). METHODS: We retrospectively reviewed our HNT patients aged 80+ treated with curative IMRT/VMAT from December 2003 to November 2015...
August 2016: Strahlentherapie und Onkologie: Organ der Deutschen Röntgengesellschaft ... [et Al]
Abhijeet Ganapule, Punit Jain, Fouzia A Nambiar, Anu Korula, Aby Abraham, Joy Mammen, Biju George, Vikram Mathews, Alok Srivastava, Auro Viswabandya
Glanzmann's thrombasthenia is a rare platelet function disorder with an autosomal recessive pattern of inheritance. Achieving haemostasis in such patients who undergo surgical procedures always poses a significant challenge. Herein we report six cases of Glanzmann's thrombasthenia, who underwent nine surgeries under the cover of platelet-rich concentrates with or without recombinant activated factor VII . Of these, five were major surgeries such as thyroidectomy, laparotomy, Hartmann's procedure, reversal of Hartmann's procedure and a complete dental extraction...
June 6, 2016: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
Michael C Glanzmann, Christoph Kolling, Hans-Kaspar Schwyzer, Laurent Audigé
BACKGROUND: Optimal treatment of a failed reverse shoulder arthroplasty (RSA) is unclear. In the case of poor glenoid bone stock, retaining a RSA may be infeasible. We report our experience with conversions to hemiarthroplasty. METHODS: Within 7 years, 16 patients underwent conversion to hemiarthroplasty after failed RSA. All patients had insufficient bone stock for reimplantation of another RSA. Standard radiographs and Constant, Shoulder Pain and Disability Index, and the 11-item version of the Disabilities of the Arm, Shoulder and Hand scores were assessed preoperatively and up to a minimum of 24 months after surgery...
May 31, 2016: Journal of Shoulder and Elbow Surgery
María Luisa Lozano, Aaron Cook, José María Bastida, David S Paul, Gemma Iruin, Ana Rosa Cid, Rosa Adan-Pedroso, José Ramón González-Porras, Jesús María Hernández-Rivas, Sarah J Fletcher, Ben Johnson, Neil Morgan, Francisca Ferrer-Marin, Vicente Vicente, John Sondek, Steve P Watson, Wolfgang Bergmeier, José Rivera
In addition to mutations in ITG2B or ITGB3 genes that cause defective αIIbβ3 expression and/or function in Glanzmann's thrombasthenia patients, platelet dysfunction can be a result of genetic variability in proteins that mediate inside-out activation of αIIbβ3 The RASGRP2 gene is strongly expressed in platelets and neutrophils, where its encoded protein CalDAG-GEFI facilitates the activation of Rap1 and subsequent activation of integrins. We used next-generation sequencing (NGS) and whole-exome sequencing (WES) to identify 2 novel function-disrupting mutations in RASGRP2 that account for bleeding diathesis and platelet dysfunction in 2 unrelated families...
September 1, 2016: Blood
Lili Donner, Knut Fälker, Lothar Gremer, Stefan Klinker, Giulia Pagani, Liza U Ljungberg, Kimberley Lothmann, Federica Rizzi, Martin Schaller, Holger Gohlke, Dieter Willbold, Magnus Grenegard, Margitta Elvers
Cerebral amyloid angiopathy (CAA) is a vascular dysfunction disorder characterized by deposits of amyloid-β (Aβ) in the walls of cerebral vessels. CAA and Aβ deposition in the brain parenchyma contribute to dementia and Alzheimer's disease (AD). We investigated the contribution of platelets, which accumulate at vascular Aβ deposits, to CAA. We found that synthetic monomeric Aβ40 bound through its RHDS (Arg-His-Asp-Ser) sequence to integrin αIIbβ3, which is the receptor for the extracellular matrix protein fibrinogen, and stimulated the secretion of adenosine diphosphate (ADP) and the chaperone protein clusterin from platelets...
2016: Science Signaling
Z Y Wang, C G Ruan
No abstract text is available yet for this article.
May 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
Stefan Janssen, Christoph Glanzmann, Stephanie Lang, Sarah Verlaan, Tino Streller, Claudia Linsenmeier, Dirk Rades, Gabriela Studer
AIM: To present an update of a prospective study evaluating an accelerated hypofractionated whole breast irradiation (WBI) schedule of the START A trial plus hypofractionated boost in breast cancer patients. PATIENTS AND METHODS: One hundred and forty consecutive patients ≥55 years were included in this study. Patients received postoperative WBI with 13×3.2 Gy to 41.6 Gy plus a boost of 3.0 Gy/fraction to 9-12 Gy applied in <3.5 weeks, depending on the resection margin...
May 2016: Anticancer Research
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