نتایج جستجو برای: rare hereditary bleeding disorders

تعداد نتایج: 1000061  

Journal: :Brazilian dental journal 2011
Leonardo Perez Faverani Ellen Cristina Gaetti-Jardim Gabriel Ramalho-Ferreira Jessica Lemos Gulinelli Thallita Pereira Queiroz Idelmo Rangel Garcia Júnior

The von Willebrand disease (vWD) is a hereditary coagulopathy. There is no gender predilection. Clinically characterized by mucocutaneous bleeding, especially nose bleeding, menorrhagia and bleeding after trauma. This article reports a case of a 52-year-old Caucasian male patient with vWD, who presented with extensive bleeding in the tongue after a lacerating injury caused by accidental biting,...

بهاری, امیر, رضایی, محمد صادق, غفاری, جواد,

Hereditary angioedema is a rare disorder of complement system which is often seen with autosomal dominant hereditary. Clinical characteristics include non- pruritic and non-pitting mucocutaneous edema that could involve all parts of the body. This study reports seven cases of hereditary angioedema with classical manifestations accompanied by low function of C1INH (type 2). One death occurred du...

Journal: :Haematologica 1995
G Gamba G C Maffé E Mosconi A Tibaldi G Di Domenico R Frego

Pavia, IRCCS Policlinico S. Matteo, p.le Golgi 3, 27100 Pavia, Italy. Received March 1, 1995; accepted May 8, 1995. G astrointestinal bleeding is a well-known event in patients suffering from congenital hemostatic disorders. In hereditary hemorrhagic telangiectasia it is the most frequent form of bleeding after epistaxis; in hemophilia the reported incidence varied from 10 to 25%. In contrast, ...

Journal: :Journal of the Korean neurological association 2022

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disorder that caused by colony stimulating factor 1 receptor gene mutation degenerating the cerebral white matter. It characterized various symptoms such as progressive cognitive decline, personality changes, and motor disorders. Since these clinical features are not consistent, HDLS often underdiag...

Farsinejad, Alireza, Ala, Fereydoun , Faranoush, Mohammad, Kazemzadeh, Shima, Mohammadi, Rezvan , Shadkam Farokhi, Fatemeh, Shafiian, Alireza,

Background: The most common polymorphisms identified in the Methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C lead to defective activity of this enzyme and increase the risk of venous and arterial thrombosis. There are limited investigations regarding the effects of thrombogenic polymorphisms on the clinical phenotypes of rare hereditary hemorrhagic disorders like Glanzmann's t...

Journal: :Cancer 2003
Martijn F Lutke Holzik Rolf H Sijmons Dirk T Sleijfer Dirk J A Sonneveld Josette E H M Hoekstra-Weebers Jannie van Echten-Arends Harald J Hoekstra

BACKGROUND In patients with hereditary or constitutional chromosomal anomalies, testicular carcinoma can develop sporadically or on the basis of an underlying hereditary genetic defect. Greater knowledge of these genetic defects would provide more insight into the molecular pathways that lead to testicular carcinoma. To the authors' knowledge, little attention has been paid to date to the comor...

2015
Mikhail A Panteleev Hendrik Coenraad Hemker

Laboratory testing in hemostasis is a subject of growing concern among the specialists. To put it plainly, the standard assays that have been in widespread use for more than 40 years (APTT and PT assays for clotting, aggregometry for platelets) are not sensitive and specific for too many major disorders of hemostasis; their parameters can remain within normal ranges when patient is in acute dan...

Journal: :Tumori 2009
Silva Zupancic Salek Ivo Radman Drazen Pulanic Aida Pasic Marin Nola Boris Labar

Although non-melanoma skin cancers are the most predominant malignancies in the Caucasian population and hemophilia A is one of the most frequent hereditary bleeding disorders, medical literature data about the management of non-melanoma skin cancers in patients with hemophilia are surprisingly scarce. In this case report we describe the treatment of a patient with multiple recurrent non-melano...

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