Results 31 to 40 of about 920,308 (229)

Management of a patient with factor X deficiency with FEIBA: a case report

open access: yesThe Journal of Haemophilia Practice, 2023
Hereditary factor X (FX) deficiency is a rare autosomal recessive disorder that increases bleeding tendencies, ranging from epistaxis to intracranial haemorrhage (ICH), which can be life-threatening.
Borboruah Luish, Dutta Anupam
doaj   +1 more source

Factor X deficiency: a comment on two recent case studies

open access: yesThe Journal of Haemophilia Practice, 2023
Hereditary factor X deficiency (HFXD) is a rare genetic bleeding disorder, affecting approximately 1 in 1,000,000 individuals globally, and resulting in abnormally low activity of clotting factor X (FX). Diagnosis may occur early in life, particularly in
Branchford Brian
doaj   +1 more source

Impact of Rare Bleeding Disorders during Pregnancy on Maternal and Fetal Outcomes: Review of 29 Pregnancies at a Single Center [PDF]

open access: yesRevista Brasileira de Ginecologia e Obstetrícia, 2017
Objective: This study aims to give information about the relationship between different types of factor deficiencies and maternal/obstetric outcomes. Methods We retrospectively reviewed the medical records of eight women with factor deficiency disorders.
Gokcen Orgul   +2 more
doaj   +1 more source

The Long-term Outcomes after VAD plus SCT Therapy in a Patient with AL Amyloidosis and Severe Factor X Deficiency. [PDF]

open access: goldIntern Med, 2018
Iwadate D   +16 more
europepmc   +2 more sources

The first reported case of factor X deficiency in a Filipino child – case study

open access: yesThe Journal of Haemophilia Practice, 2023
Factor X (FX) deficiency is an extremely rare inherited bleeding disorder affecting one in 1,000,000 people. According to the most recent published census of the World Hemophilia Federation, to date there is no reported case of FX deficiency in the ...
Masacupan Kristian Dorell   +3 more
doaj   +1 more source

IGF-I receptor phosphorylation is impaired in cathepsin X-deficient prostate cancer cells [PDF]

open access: yes, 2012
The cysteine-type peptidase cathepsin X is highly upregulated in several cancers and presumably promotes tumor invasion through bypassing cellular senescence. Here, we present first evidence that the underlying mechanism may involve the regulation of the
Bunsen, Thea   +3 more
core   +1 more source

Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets. [PDF]

open access: yes, 2014
BackgroundPulmonary first pass filtration of particles marginally exceeding ∼7 µm (the size of a red blood cell) is used routinely in diagnostics, and allows cellular aggregates forming or entering the circulation in the preceding cardiac cycle to lodge ...
AD Kjeldsen   +83 more
core   +12 more sources

Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency [PDF]

open access: yes, 2011
17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency is a rare X-linked inborn error of isoleucine catabolism. Although this protein has been genetically implicated in Alzheimer's disease pathogenesis, studies of amyloid-β peptide (Aβ) in patients with
Campistol, Jaume   +11 more
core   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

open access: yes, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM   +6 more
core   +1 more source

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