A C-terminal amino acid substitution in the γ-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenaemia [PDF]
journal ...
Fujihara Noriko +6 more
core +2 more sources
Fibrinogen is a key coagulation protein, playing a critical role in hemostasis. It is the first factor to decrease to critical levels during bleeding. Hypofibrinogenemia is an important risk factor for bleeding in clinical settings, including pediatric ...
Elise J. Huisman +3 more
doaj +1 more source
Klippel–Trenaunay Syndrome (KTS) is a rare congenital disorder, characterized by venous and lymphatic malformations of the skin, soft tissue, and bone, causing limb hypertrophy.
Hongna Yang +4 more
doaj +1 more source
Neutralization of IFN-γ reverts clinical and laboratory features in a mouse model of macrophage activation syndrome. [PDF]
BACKGROUND: The pathogenesis of macrophage activation syndrome (MAS) is not clearly understood: a large body of evidence supports the involvement of mechanisms similar to those implicated in the setting of primary hemophagocytic lymphohistiocytosis ...
Bracaglia, Claudia +10 more
core +1 more source
Cytokine release syndrome in COVID-19 patients, a new scenario for an old concern. The fragile balance between infections and autoimmunity [PDF]
On 7 January 2020, researchers isolated and sequenced in China from patients with severe pneumonitis a novel coronavirus, then called SARS-CoV-2, which rapidly spread worldwide, becoming a global health emergency.
Diamanti, A. P. +4 more
core +2 more sources
A ruptured vulvar labial artery pseudoaneurysm causes a secondary postpartum hemorrhage: A case report. [PDF]
Background:Postpartum hemorrhage is the most common cause of maternal morbidity in the United States. However, secondary postpartum hemorrhage is rare and includes pseudoaneurysms, which represent only 3.3% of all cases of secondary postpartum hemorrhage.
Lane, Felicia +3 more
core
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation [PDF]
Lymphocyte apoptosis is mainly induced by either death receptor-dependent activation of caspase-8 or mitochondria-dependent activation of caspase-9. Mutations in caspase-8 lead to autoimmunity/lymphoproliferation and immunodeficiency. This work describes
Boggio, E +15 more
core +2 more sources
The mutation γ375Arg → Trp (fibrinogen Aguadilla) is one of four mutations (Brescia, Aguadilla, Angers, and AI duPont) capable of causing hepatic storage of fibrinogen.
Abdulrahman Al-Hussaini +6 more
doaj +1 more source
Angiosarcoma of the breast with hypofibrinogenemia: A rare case report and review of the literature
BackgroundBreast angiosarcoma is a rare malignant tumor, accounting for approximately 0.04% of all breast malignancies. Angiosarcoma of the breast with hypofibrinogenemia is even rarer and has not been described in man.
Ran An +3 more
doaj +1 more source
Peste des petits ruminants (PPR) is a disease of economic and veterinary importance leading to considerable economic losses. PPR affects small domestic and wild ruminants.
Iniobong C. I. UGOCHUKWU +6 more
doaj +1 more source

