Results 21 to 30 of about 317,965 (247)

A case of congenital factor V deficiency [PDF]

Journal of Korean Medical Science, 1987
A case of Factor V deficiency, the first case in Korea, is reported in a 9-year-old boy whose plasma concentration of Factor V was 6%. He complained of easy bruisability, prolonged bleeding from the mouth after minor trauma and hemarthrosis and flexion contracture of the right knee.
J W, Song, M R, Um, H S, Ahn, C Y, Hong
openaire   +2 more sources

Factor V deficiency: a concise review [PDF]

Haemophilia, 2008
Summary.  Factor V (FV; proaccelerin or labile factor) is the plasma cofactor for the prothrombinase complex that activates prothrombin to thrombin. FV deficiency can be caused by mutations in the FV gene or in genes encoding components of a putative cargo receptor that transports FV (and factor VIII) from the endoplasmic reticulum to the Golgi ...
J N, Huang, M A, Koerper
openaire   +2 more sources

Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency

Haematologica, 2008
We evaluated FV mRNA in severe factor V deficiency caused by the -12T/A IVS18 mutation, activating a cryptic splice site and leading to premature translation termination. Quantitative evaluation of factor V cDNA from homozygous and heterozygous subjects,
Barbara Lunghi, Mirko Pinotti, Iva Maestri, Angelika Batorova, Francesco Bernardi   +4 more
doaj   +1 more source

Acquired Factor V Deficiency After Carbapenem Administration: A Case Report [PDF]

Journal of Acute Care Surgery
Factor V (FV) deficiency is a coagulation disorder (congenital or acquired). Unlike congenital FV deficiency, mixing tests for prothrombin time and activated partial thromboplastin time are not corrected in acquired FV cases.
Hyejeong Park, Jee Yeon Lee, Im-kyung Kim   +2 more
doaj   +1 more source

Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions

Orphanet Journal of Rare Diseases, 2017
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
Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran, Tahir Sultan Shamsi   +9 more
doaj   +1 more source

Screening for inherited thrombophilias and prophylaxis of venous thromboembolism in pregnancy and puerperium [PDF]

Romanian Journal of Medical Practice, 2020
Thrombophilias are a group of coagulation disorders associated with a predisposition to thrombotic events. They could be inherited (genetic) or acquired. The most encountered inherited thrombophilias are factor V Leiden (FVL), prothrombin gene mutation (
Ana SCUTELNICU, Corina GICA, Radu BOTEZATU, Nicolae GICA, Anca Marina CIOBANU, Brindusa CIMPOCA, Gheorghe PELTECU, Anca Maria PANAITESCU   +7 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Health‐Related Social Needs in Children With Sickle Cell Disease Are Associated With Worse Health‐Related Quality of Life

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Children with sickle cell disease (SCD) face multiple acute and chronic medical complications that may impact their quality of life as reported by patients themselves. Health‐related social needs (HRSNs), such as food and housing insecurity, are common in people with SCD, but the association between HRSNs and patient‐reported ...
Sarah J. Marks, Molly Sonenklar, Cerelia Donald, Cecelia Valrie, Wally Smith, India Sisler   +5 more
wiley   +1 more source

Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta‐Analysis

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2019
Background Inherited thrombophilias are well‐established predisposing factors for venous thromboembolism, but their role in arterial thrombosis, such as arterial ischemic stroke, remains uncertain.
Thita Chiasakul, Elizabeth De Jesus, Jiayi Tong, Yong Chen, Mark Crowther, David Garcia, Chatree Chai‐Adisaksopha, Steven R. Messé, Adam Cuker   +8 more
doaj   +1 more source

Cup‐Like Nuclei Is a Hallmark of DUX4/ERG Acute Lymphoblastic Leukemia and Reveals Cytoplasmic Mitochondria Accumulation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Cup‐like nuclei are a distinctive morphological feature observed in certain cases of acute lymphoblastic leukemia (ALL). We provide evidence that they characterize DUX4/ERG ALL independently of IKZF1 deletion and reveal marked mitochondrial accumulation in this ALL subset.
Chloé Arfeuille, Hugo Roux, Odile Fenneteau, Aurélie Caye‐Eude, Alexia Kinoo, Yoann Vial, André Baruchel, Marion Strullu, Elodie Lainey, Hélène Cavé   +9 more
wiley   +1 more source