نتایج جستجو برای: hereditary bleeding disorder

تعداد نتایج: 719105  

Journal: :Anesthesia and analgesia 2009
Nirmala Jonnavithula Padmaja Durga Ravindra Pochiraju Kiran Kumar Anne Gopinath Ramachandran

Factor X deficiency is a rare hereditary coagulation disorder. We report a case of congenital factor X deficiency diagnosed preoperatively in an 8-yr-old female child scheduled to undergo corrective surgery for congenital thoracolumbar kyphoscoliosis. Her preoperative coagulation profile revealed prolonged prothrombin time and activated partial thromboplastin time values. Further evaluation sho...

Journal: :The New England journal of medicine 2014
Davide Monteferrario Nikhita A Bolar Anna E Marneth Konnie M Hebeda Saskia M Bergevoet Hans Veenstra Britta A P Laros-van Gorkom Marius A MacKenzie Cyrus Khandanpour Lacramiora Botezatu Erik Fransen Guy Van Camp Anthonie L Duijnhouwer Simone Salemink Brigith Willemsen Gerwin Huls Frank Preijers Waander Van Heerde Joop H Jansen Marlies J E Kempers Bart L Loeys Lut Van Laer Bert A Van der Reijden

The gray platelet syndrome is a hereditary, usually autosomal recessive bleeding disorder caused by a deficiency of alpha granules in platelets. We detected a nonsense mutation in the gene encoding the transcription factor GFI1B (growth factor independent 1B) that causes autosomal dominant gray platelet syndrome. Both gray platelets and megakaryocytes had abnormal marker expression. In addition...

Journal: :Kathmandu University medical journal 2013
M Breidert A Mandal A Koller N Huellebrand B Malla

Morbus Osler-Weber-Rendu syndrome also known as Hereditary hemorrhagic telangiectasia (HHT) and Meckel's diverticulum is a rare combination disorder. Our case presented with the recurrent obscure gastrointestinal (GI) bleeding for several years. He came with a massive active lower gastrointestinal bleeding. Ultimatively, he underwent an exploratory laparotomy along with intraoperative colonosco...

2018
Ricardo Alicea-Guevara Michael Cruz Caliz Jose Adorno Ricardo Fernandez Kelvin Rivera Gustavo Gonzalez Ricardo Alan Hernandez-Castillo Rosangela Fernandez Christian Castillo Latorre

Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare autosomal dominant vascular disorder. Patients with HHT may present with a wide spectrum of clinical manifestations, some considered to be life-threatening. We present the case of a 53-year-old male who presented with massive haemoptysis. Chest computed tomography scan was remarkable for a large an...

Journal: :basic and clinical neuroscience 0
behnam zamanian iranian national center for addiction studies, tehran university of medical sciences ali goodarzi institute for cognitive sciences studies (icss) hamed ekhtiari no. 669, south karegar ave, tehran, 13366-16357, iran. tel: +9821-55421177, +98912-1885898 email: [email protected]

a b s t r a c t “addiction” is a multifaceted complicated disorder with many interrelated causes, as well as environmental and genetic features. several hereditary variables that have an effect on these features might work in together to influence vulnerability and the extent of being an addict. molecular re-sequencing of the latest and formerly researched genes holds a crucial place with regar...

Journal: :Blood 1969
K E Call M M Mull W E Hathaway

C LASSIC HEMOPHILIA ( Hemophilia A) is a hereditary hemorrhagic disorder characterized by low to absent levels of anti-hemophiliac globulin ( AHF, Factor VIII ) . The bleeding time and other measurements of platelet function are usually described as normal. We have recently studied a patient with severe AHF-deficient hemophilia who has repeatedly developed a prolonged bleeding time and other si...

Journal: :Haemophilia : the official journal of the World Federation of Hemophilia 2005
M Franchini G Rossetti A Tagliaferri C Pattacini D Pozzoli C Lorenz L Del Dot G Ugolotti C Dell'aringa G Gandini

Excessive bleeding after dental procedures are one of the most frequent complications occurring in patients with hereditary bleeding disorders. In this retrospective study we collected data from 10 years of experience in the oral care of patients with congenital haemorrhagic disorders in three Italian Hemophilia Centers. Between 1993 and 2003, 247 patients with inherited bleeding disorders unde...

Journal: :Orphanet Journal of Rare Diseases 2006
François Lanza

Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts. This syndrome is extremely rare as only approximately 100 cases have been reported in the literature. Clinical manifestations usually include pu...

Journal: :Haematologica 2007
Lucia Rugeri Suzette Beguin Coenraad Hemker Jean-Claude Bordet Raphael Fleury Brigitte Chatard Claude Negrier Yesim Dargaud

BACKGROUND AND OBJECTIVES on Willebrand's disease (VWD) is the most common hereditary bleeding disorder. Its severity can be classified on the basis of von Willebrand factor (VWF) and factor VIII (FVIII) plasma levels and according to the clinical relevance of bleeding episodes. However, patients with very low VWF activity may exhibit a mild bleeding tendency. The basis for this heterogeneous c...

2018
Nikolaos Papadopoulos Vasiliki Argiana Melanie Deutsch

Hereditary bleeding disorders include a group of diseases with abnormalities of coagulation. Prior to 1990, infection with hepatitis C virus (HCV) was mainly transmitted via pooled plasma products as a treatment for hereditary bleeding disorders. Anti-HCV positivity in these patients may be as high as >70% in some areas, while some of them have also been coinfected with human immunodeficiency v...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید