Abstract:
:Factor VII deficiency is the least rare among uncommon congenital coagulation disorders. The majority of cases are isolated deficiencies. In some cases, FVII deficiency has been found to be associated with the deficiency in another coagulation factor or with non-coagulation-related abnormalities or defects. The evaluation of all published studies on the subject has shown that the FVII defect has been reported in association with FV, FVIII, FIX, FX, FXI and protein C defects. Furthermore, FVII deficiency has been described in association with bilirubin metabolism disorders, mental retardation, microcephaly, epicanthus, cleft palate and persistence of ductus arteriosus. The most interesting association appears to be that with FX. This has been shown to be due to a deletion in part of the long arm of chromosome 13. This arm contains genes coding for both FVII and FX. Interestingly, this combined coagulation defect has been found to be associated with carotid body tumors and several other malformations. Combined defects in blood coagulation often create diagnostic difficulties since results cannot be explained if a single factor deficiency is assumed. For example the combined FVII and FX defect yields a rather peculiar laboratory picture (prolonged prothrombin time and partial thromboplastin time, but normal thrombin time) that could suggest FII or FV or FX single deficiency and not FVII deficiency, indicating the need for specific factor assays whenever data are confusing. Finally, the elevated incidence of mental and skeletal malformations present in these combined defects indicates the need for a careful evaluation of all these patients lest some aspects of the defect are missed.
journal_name
Acta Haematoljournal_title
Acta haematologicaauthors
Girolami A,Ruzzon E,Tezza F,Allemand E,Vettore Sdoi
10.1159/000096789subject
Has Abstractpub_date
2007-01-01 00:00:00pages
51-6issue
1eissn
0001-5792issn
1421-9662pii
96789journal_volume
117pub_type
杂志文章,评审abstract::It was confirmed that activation of the kallikrein-kinin enzyme system in cryoglobulinemia might be initiated by activation of factor XII to factor XIIa by cryoglobulin. It was also demonstrated that cryoglobulin or fibrin clots lost their ability to redissolve on warming to 37 degrees C, and consequently the lysis ti...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206563
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journal_title:Acta haematologica
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doi:10.1159/000206173
更新日期:1985-01-01 00:00:00
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journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206057
更新日期:1986-01-01 00:00:00
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journal_title:Acta haematologica
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更新日期:1994-01-01 00:00:00
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journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000070967
更新日期:2003-01-01 00:00:00
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更新日期:1998-01-01 00:00:00
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doi:10.1159/000207433
更新日期:1980-01-01 00:00:00
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journal_title:Acta haematologica
pub_type: 临床试验,杂志文章
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更新日期:2016-01-01 00:00:00
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journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207238
更新日期:1980-01-01 00:00:00
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journal_title:Acta haematologica
pub_type: 杂志文章
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更新日期:1990-01-01 00:00:00
abstract:OBJECTIVE:To investigate a family with factor VII (FVII) deficiency from Argentina. PATIENTS AND METHODS:The proposita is a 14-year-old girl who presented with a mild to moderate bleeding tendency. Menorrhagia is controlled with periodical administration of small doses of recombinant FVII concentrate. The mother of th...
journal_title:Acta haematologica
pub_type:
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更新日期:2021-01-01 00:00:00
abstract::B-cell chronic lymphocytic leukaemia (B-CLL) is characterized by a high frequency of infections, including those of viral aetiology. Previous reports have demonstrated a specific immunologic response to influenza virus vaccine in B-CLL patients with normal IgG levels. In this study, we have evaluated different immunop...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000040709
更新日期:1998-01-01 00:00:00
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journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000205622
更新日期:1988-01-01 00:00:00
abstract::In the last 18 years, we have observed 24 cases of hypoparathyroidism (HPT) in beta-thalassemia major. At present, 4.5% of patients followed regularly in our department have this complication. HPT is thought to be mainly the consequence of iron deposition in the parathyroid glands. The age of our patients when HPT was...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000204662
更新日期:1992-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1159/000087891
更新日期:2005-01-01 00:00:00
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journal_title:Acta haematologica
pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:1998-12-01 00:00:00
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journal_title:Acta haematologica
pub_type: 杂志文章
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更新日期:1994-01-01 00:00:00
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journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000204826
更新日期:1991-01-01 00:00:00
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journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000205851
更新日期:1987-01-01 00:00:00
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journal_title:Acta haematologica
pub_type: 杂志文章
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更新日期:1999-01-01 00:00:00
abstract::The level of granulocyte-macrophage colony-stimulating factor (GM-CSF) in the cerebrospinal fluid from 14 infants and children with meningitis and 6 patients who suffered other diseases besides meningitis was measured by our sensitive enzyme linked immunosorbent assay for GM-CSF. The minimal detection level of GM-CSF ...
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pub_type: 杂志文章
doi:10.1159/000204796
更新日期:1991-01-01 00:00:00
abstract::The detection and enumeration of sideroblasts depend critically on the method used for iron staining of bone marrow smears. Several methods proposed for semiquantitative evaluation of bone marrow hemosiderin (iron stores) were compared with respect to their suitability for detection of normal and abnormal sideroblasts...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207856
更新日期:1977-01-01 00:00:00
abstract:BACKGROUND:Argininemia is an autosomal recessive urea cycle disorder (UCD). Unlike other UCD, hyperammonemia is rarely seen. Patients usually present in childhood with neurological symptoms. Uncommon presentations like neonatal cholestasis or cirrhosis have been reported. Although transient elevations of liver transami...
journal_title:Acta haematologica
pub_type: 杂志文章
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更新日期:2018-01-01 00:00:00
abstract::A patient with common acute lymphoblastic leukaemia (ALL), hypereosinophilic syndrome and t(5;14) (q31.1;q32.3) translocation is described. Even with intensive treatment only short periods of complete remission were achieved. Recurrence of the leukaemia was always accompanied by the appearance of eosinophilic granuloc...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000205289
更新日期:1989-01-01 00:00:00