نتایج جستجو برای: haemophilia

تعداد نتایج: 2327  

Journal: :Haemophilia : the official journal of the World Federation of Hemophilia 2013
S von Mackensen I G Campos C Acquadro M Strandberg-Larsen

Currently, haemophilia care aims to provide the best possible quality of life for individuals living with this chronic disease. Many factors are known to influence treatment adherence, including treatment satisfaction. Health-related quality of life (HRQoL) and treatment satisfaction are, therefore, important outcomes in clinical trials and clinical practice. As individuals' perception of their...

2014
Habib Onsori Mohammad Ali Hosseinpour Feizi Abbas Ali Hosseinpour Feizi

INTRODUCTION Haemophilia A is the most common inherited X-linked recessive bleeding disorder. The severity of the resultant bleeding diathesis depends on the FVIII levels associated with the mutation. Analysis of carrier state can be made indirectly by DNA linkage analysis or directly by identifying the mutation that leads to the disease. The aim of this study was to identification of the causa...

Journal: :Thrombosis and haemostasis 2006
David J Perry Anne Goodeve Marian Hill Ian Jennings Steve Kitchen Isobel Walker

Molecular genetic analysis of families with haemophilia and other inherited bleeding disorders is now a common laboratory investigation. In contrast to phenotypic testing in which strict quality control is adhered to, in haemophilia molecular genetic testing there has been a lack of any external quality assurance schemes. In 1998 the UK National External Quality Assessment Scheme (UK NEQAS) est...

Journal: :Haemophilia : the official journal of the World Federation of Hemophilia 2005
M Mitchell S Keeney A Goodeve

Haemophilia B is one of the most common inherited bleeding disorders and has a well understood pathophysiology. Our understanding of the molecular genetics of the disease has allowed the development of comprehensive carrier and prenatal diagnosis for this single gene disorder. Continuing technological developments improve our ability to provide genetic analysis in a rapid and cost-effective man...

Journal: :Journal of clinical pathology 1972
D Meyer E Bidwell M J Larrieu

Cross-reacting factor IX material (CRM) was immunologically detected in the plasma of 38 normal individuals and 21 out of 22 haemophilia B patients using a rabbit antibody to factor IX. The same reacting material was detected in only nine of these patients using a human antibody. These results indicate that the plasma of the majority of haemophilia B patients contains a protein-lacking biologic...

Journal: :Haemophilia 2010

Journal: :Postgraduate medical journal 1976
R D Rosin

COTTON, P.B., ROSENBERG, M.T., WALDRAM, R.P.L. & AXON, A.T.R. (1973) Early endoscopy of oesophagus, stomach and duodenal bulb in patients with haematemesis and melaena. British Medical Journal, 2, 505. FORBES, C.D., BARR, R.D., PRENTICE, C.R.M. & DOUGLAS, A.S. (1973) Gastrointestinal bleeding in haemophilia. Quarterly Journal of Medicine, N.S., XLII, 503. MARTEL, W., SCHOLTENS, P.A. & LIM, L.W....

2011
Mike Mitchell Steve Keeney Anne Goodeve

1.0 GENERAL RECOMMENDATIONS Where guidance states this is recommended practice or text is given in italics then this should be followed to ensure quality of service. It is recommended that genetic testing for haemophilia in the UK should be performed in a member laboratory of the UKHCDO Haemophilia Genetics Laboratory Network. This is a consortium of laboratories, within Comprehensive Care Haem...

Journal: :Haemophilia : the official journal of the World Federation of Hemophilia 2012
K Meijer E B Haagsma

The topic of this monograph is liver cancer associated with chronic HCV infection. We start with some background information on chronic HCV infection and its long-term sequelae, one of which is liver cancer. The rest of the article is concerned with liver cancer or hepatocellular carcinoma (HCC). Epidemiology, risk factors, treatment and outcomes are discussed. We focus on those aspects that ar...

Journal: :Haemophilia : the official journal of the World Federation of Hemophilia 2011
J F Lucía J A Aznar L Abad-Franch R R Escuin V Jiménez-Yuste R Pérez J Batlle I Balda G Alperovich R Parra

The Spanish Epidemiological Study in Haemophilia carried out in 2006 enrolled 2400 patients [2081-86.7% with haemophilia A (HA) and 319-13.3% with haemophilia B]; 465 of them (19.4%) were on prophylaxis. These rates were higher in patients with severe haemophilia (45.4%) and severe paediatric cases (72.5%). On the basis of information recorded in this study, we analysed the current situation of...

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