Results 21 to 30 of about 26,639 (274)

Hemophilia in the newborn without family history: Pattern of clinical presentation of three patients [PDF]

, 2010
Introduction. Hemophilia is the most frequently diagnosed inborn clotting factor deficiency in the newborn. In about half of the cases diagnosis is made during neonatal period.
Janković Borisav, Kuzmanović Miloš, Martić Jelena, Rašović-Gvozdenović Nada, Šerbić Olivera   +4 more
core   +1 more source

FACTOR-X DEFICIENCY: A RARE DISORDER TO BE LOOKED FOR IN CASES OF CONGENITAL BLEEDING TENDENCY [PDF]

Khyber Medical University Journal, 2018
Factor X deficiency is a rare, autosomal recessive disorder that involves the coagulation cascade. People with this disorder present with a myriad of early life bleeding complications.
Fatima Ayaz, Saeed Bin Ayaz, Muhammad Furrukh   +2 more
doaj  

von Willebrand Disease: The diagnosis and management of this bleeding disorder

Medical Journal of Babylon, 2020
von Willebrand disease (vWD) is one of the most common bleeding disorders, first described by Erik von Willebrand in the Aland Islands. It occurs as a result of decreased or abnormal von Willebrand factor (vWF), a factor that is needed in the process of ...
Basim A. Abd, Nawrass J Al-Salihi
doaj   +1 more source

Severe haemophilia A in a preterm girl with Turner syndrome: case report – a diagnostic and therapeutic challenge for a paediatrician (Part 2)

Italian Journal of Pediatrics, 2021
Background Haemophilia A is an X-linked genetic condition which manifests itself mainly in male children in the first 2 years of life, during gross motor skill development. This disorder is rare in females.
Berendt Agnieszka, Wójtowicz-Marzec Monika, Wysokińska Barbara, Kwaśniewska Anna   +3 more
doaj   +1 more source

Measurement of factor XIII for the diagnosis and management of deficiencies: insights from a retrospective review of 10 years of data on consecutive samples and patients

Research and Practice in Thrombosis and Haemostasis
Background: Factor XIII (FXIII) deficiency is a challenge in the diagnosis of rare bleeding disorders with inherited and acquired causes. Objectives: We evaluated consecutive cases tested for FXIII deficiency for insights on diagnosis.
Mohammed Abdullah Al Sharif, Natalie Mathews, Subia Tasneem, Karen A. Moffat, Stephen A. Carlino, Siraj Mithoowani, Catherine P.M. Hayward   +6 more
doaj   +1 more source

Sickle Cell Disease, a Review

Hemato, 2022
Sickle cell disease and its variants constitute the most common inherited blood disorders affecting millions of individuals worldwide. Significant information regarding the nature of the genetic mutations and modifier genes that result in increased or ...
Cameron K. Tebbi
doaj   +1 more source

Inherited thrombophilia and reproductive disorders [PDF]

, 2018
K
Csorba, Roland, Galazios, Georgios, Liatsikos, Spyros A., Manav, Bachar, Tempelhoff, Georg-Friedrich von, Tsikouras, Panagioti   +5 more
core   +1 more source

Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study

Research and Practice in Thrombosis and Haemostasis
Background: Rare coagulation factor deficiencies and disorders of fibrinolysis (defined as rare bleeding disorders [RBDs]) present with a heterogeneous bleeding phenotype, and bleeding severity is difficult to predict.
Sterre P.E. Willems, Annet Simons, Joline L. Saes, Marjan Weiss, Sanna Rijpma, Selene Schoormans, Karina Meijer, Marjon H. Cnossen, Roger E.G. Schutgens, Nick van Es, Laurens Nieuwenhuizen, Paul L. den Exter, Ilmar C. Kruis, Nicole M.A. Blijlevens, Waander L. van Heerde, Saskia E.M. Schols   +15 more
doaj   +1 more source

Plasma‐derived factor X concentrate compassionate use for hereditary factor X deficiency: Long‐term safety and efficacy in a retrospective data‐collection study

Research and Practice in Thrombosis and Haemostasis, 2021
Background Coagadex is a high‐purity plasma‐derived factor X concentrate (pdFX) developed to treat hereditary factor X deficiency (FXD). Objective Evaluate the efficacy and safety of pdFX administered to patients with hereditary FXD.
James N. Huang, Ri Liesner, Steven K. Austin, Kaan Kavakli, Chioma Akanezi   +4 more
doaj   +1 more source

Traumatic Brain Injury Induces Genome-Wide Transcriptomic, Methylomic, and Network Perturbations in Brain and Blood Predicting Neurological Disorders. [PDF]

, 2017
The complexity of the traumatic brain injury (TBI) pathology, particularly concussive injury, is a serious obstacle for diagnosis, treatment, and long-term prognosis. Here we utilize modern systems biology in a rodent model of concussive injury to gain a
Agrawal, Rahul, Gomez-Pinilla, Fernando, Meng, Qingying, Yang, Xia, Ying, Zhe, Zhuang, Yumei   +5 more
core   +2 more sources