Disease relevance of Factor VII Deficiency

• Diet-responsive proconvertin (factor VII) deficiency in homocystinuria [1].
• APTT-based assays were sensitive to factor XII deficiency, whereas thromboplastin-based assay was sensitive to factor VII deficiency (< 0.5 UI/ml), which surestimates the response to APC [2].
• Best results have so far been obtained in metabolic diseases, such as urea cycle disorders, glycogenosis type I, Crigler Najjar, Refsum disease and factor VII deficiency [3].

High impact information on Factor VII Deficiency

• Factor VII deficiency rescues the intrauterine lethality in mice associated with a tissue factor pathway inhibitor deficit [4].
• A new mutation in the HNF4 binding region of the factor VII promoter in a patient with severe factor VII deficiency [5].
• Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency [6].
• A factor VII molecular variant (factor VII Central) was identified in a 24-year-old male with severe factor VII deficiency and whose plasma factor VII antigen was 38% of normal, but expressed <1% factor VII procoagulant activity [7].
• We performed a DNA analysis on a patient with severe type I factor VII deficiency by the polymerase chain reaction amplification and a direct DNA sequencing method [8].

Chemical compound and disease context of Factor VII Deficiency

• Paracetamol poisoning unmasking factor VII deficiency [9].
• This communication describes the use of Factor VII Concentrate (Human) Immuno, Vapor Heated--an intermediate purity factor VII concentrate from Immuno A.G.--for the treatment of 13 patients with factor VII deficiency [10].
• Warfarin-induced factor VII deficiency and the bleeding time [11].
• A Spanish family was found to have the coexistence of a hereditary haemolytic syndrome associated with excessively leaky RBC membrane to sodium (Na+) and potassium (K+) cations and a partial coagulation factor VII deficiency [12].

Biological context of Factor VII Deficiency

• Prolonged prothrombin time with normal partial thromboplastin time indicates factor VII deficiency [13].

Gene context of Factor VII Deficiency

• When compared with Caucasian data, our data showed a significantly lower prevalence of protein C, total protein S, antithorombin III, factor II, and factor VII deficiencies [14].
• Peri-operative replacement therapy with factor VII concentrate in a patient with severe factor VII deficiency [15].
• A new factor VII concentrate, made from ACD plasma by a process involving successive absorptions of cryoprecipitate supernatant on DEAE Sephadex and of the resulting supernatant on A1(OH)3, was administered to 10 patients with severe factor VII deficiency [16].
• Hemorrhagic stroke in a child with protein S and factor VII deficiencies [17].
• A patient with congenital factor VII deficiency (baseline activity, 7%) underwent surgery for hepatocellular carcinoma [18].

References