Molecular determination of the breakpoints of a 161 556 bp deletion at chromosome 13q34 that presented as severe factor VII deficiency in a neonate

2008 ◽  
Vol 140 (5) ◽  
pp. 589-592 ◽  
Author(s):  
Jeff Hewitt ◽  
Sharon J. Craven ◽  
Lindsay A. Brown ◽  
Mark R. Bleackley ◽  
Jennifer N. M. Ballard ◽  
...  
Keyword(s):  
Factor Vii ◽  
Factor Vii Deficiency ◽  
Molecular Determination

Inherited Factor VII Deficiency: Genetics and Molecular Pathology

1995 ◽  
Vol 74 (01) ◽  
pp. 313-321 ◽  
Author(s):  
Edward G D Tuddenham ◽  
Susan Pemberton ◽  
David N Cooper
Keyword(s):  
Molecular Pathology ◽  
Factor Vii ◽  
Factor Vii Deficiency

Detection of Circulating Tissue Factor and Factor VII in a Normal Population

1996 ◽  
Vol 75 (05) ◽  
pp. 772-777 ◽  
Author(s):  
Sybille Albrecht ◽  
Matthias Kotzsch ◽  
Gabriele Siegert ◽  
Thomas Luther ◽  
Heinz Großmann ◽  
...  
Keyword(s):  
Tissue Factor ◽  
Normal Population ◽  
Mean Value ◽  
Factor Vii ◽  
Significant Difference ◽  
Age Dependent ◽  
The Mean ◽  
Highly Correlated ◽  
And Gender

SummaryThe plasma tissue factor (TF) concentration was correlated to factor VII concentration (FVIIag) and factor VII activity (FVIIc) in 498 healthy volunteers ranging in age from 17 to 64 years. Immunoassays using monoclonal antibodies (mAbs) were developed for the determination of TF and FVIIag in plasma. The mAbs and the test systems were characterized. The mean value of the TF concentration was 172 ± 135 pg/ml. TF showed no age- and gender-related differences. For the total population, FVIIc, determined by a clotting test, was 110 ± 15% and the factor VIlag was 0.77 ± 0.19 μg/ml. FVII activity was significantly increased with age, whereas the concentration demonstrated no correlation to age in this population. FVII concentration is highly correlated with the activity as measured by clotting assay using rabbit thromboplastin. The ratio between FVIIc and FVIIag was not age-dependent, but demonstrated a significant difference between men and women. Between TF and FVII we could not detect a correlation.

Two-Stage Procedure for the Quantitative Determination of Autoprothrombin III Concentration and Some Applications

1967 ◽  
Vol 18 (01/02) ◽  
pp. 198-210 ◽  
Author(s):  
Ronald S Reno ◽  
Walter H Seegers
Keyword(s):  
Prothrombin Time ◽  
Factor Vii ◽  
Two Stage ◽  
Pronounced Increase ◽  
One Stage ◽  
Assay Procedure ◽  
Bovine Plasma ◽  
The One ◽  
Autoprothrombin C

SummaryA two-stage assay procedure was developed for the determination of the autoprothrombin C titre which can be developed from prothrombin or autoprothrombin III containing solutions. The proenzyme is activated by Russell’s viper venom and the autoprothrombin C activity that appears is measured by its ability to shorten the partial thromboplastin time of bovine plasma.Using the assay, the autoprothrombin C titre was determined in the plasma of several species, as well as the percentage of it remaining in the serum from blood clotted in glass test tubes. Much autoprothrombin III remains in human serum. With sufficient thromboplastin it was completely utilized. Plasma from selected patients with coagulation disorders was assayed and only Stuart plasma was abnormal. In so-called factor VII, IX, and P.T.A. deficiency the autoprothrombin C titre and thrombin titre that could be developed was normal. In one case (prethrombin irregularity) practically no thrombin titre developed but the amount of autoprothrombin C which generated was in the normal range.Dogs were treated with Dicumarol and the autoprothrombin C titre that could be developed from their plasmas decreased until only traces could be detected. This coincided with a lowering of the thrombin titre that could be developed and a prolongation of the one-stage prothrombin time. While the Dicumarol was acting, the dogs were given an infusion of purified bovine prothrombin and the levels of autoprothrombin C, thrombin and one-stage prothrombin time were followed for several hours. The tests became normal immediately after the infusion and then went back to preinfusion levels over a period of 24 hrs.In other dogs the effect of Dicumarol was reversed by giving vitamin K1 intravenously. The effect of the vitamin was noticed as early as 20 min after administration.In response to vitamin K the most pronounced increase was with that portion of the prothrombin molecule which yields thrombin. The proportion of that protein with respect to the precursor of autoprothrombin C increased during the first hour and then started to go down and after 3 hrs was equal to the proportion normally found in plasma.

Two Typical Hereditary Charts of Congenital Factor VII Deficiency

1961 ◽  
Vol 05 (01) ◽  
pp. 087-092 ◽  
Author(s):  
F. J Cleton ◽  
E. A Loeliger
Keyword(s):  
Factor Vii ◽  
Autosomal Gene ◽  
Homozygous State ◽  
Recessive Character ◽  
Factor Vii Deficiency ◽  
Complete Penetrance ◽  
Coagulation Defect ◽  
Haemorrhagic Diathesis ◽  
Intermediate Expression ◽  
Congenital Factor

SummaryThe inheritance of congenital factor VII deficiency was investigated in 2 unrelated families. Out of 68 individuals, 4 (3 proven and 1 highly probable) were found to have severe factor VII deficiency (<C 0.1% factor VII), and 29 appeared to be heterozygotes (30—60% factor VII). The coagulation defect is due to an autosomal gene of intermediate expression and complete penetrance. The recessive character of the haemorrhagic diathesis due to the homozygous state for the abnormal gene is clearly demonstrated.

Molecular determination of the origin of acephalic cysticercus

Parasitology ◽  
2004 ◽  
Vol 130 (2) ◽  
pp. 239-246 ◽  
Author(s):  
J.-Y. CHUNG ◽  
W.-G. KHO ◽  
S.-Y. HWANG ◽  
E.-Y. JE ◽  
Y.-T. CHUNG ◽  
...  
Keyword(s):  
Nadh Dehydrogenase ◽  
Fatal Outcome ◽  
Constitutive Expression ◽  
Molecular Data ◽  
Molecular Characteristics ◽  
Nadh Dehydrogenase Subunit ◽  
Subarachnoidal Space ◽  
Species Specific ◽  
Molecular Determination

Acephalic cysticercus (Ac), a rarely developed multilobulated and nonencysted form of larval Taenia, causes hydrocephalus or adhesive arachnoiditis in the ventricles and subarachnoidal space that often lead to fatal outcome in affected patients. Ac has been proposed to originate from T. solium on the basis of morphological features, while no molecular data supporting the presumption have been available. In the present study, we investigated the immunological properties as well as molecular characteristics of Ac that was obtained surgically from 6 patients. Immunoblotting of the cyst fluid from Ac samples demonstrated the constitutive expression of a T. solium metacestode (TsM) 10 kDa protein. Specific antibodies against the truncated 10 kDa protein, which appears to be species specific for TsM cysticercosis, were detected in both serum and cerebrospinal fluid samples of Ac patients. Nucleotide sequences of mitochondrial cytochrome c oxidase subunit I (COI) and NADH dehydrogenase subunit 1 (ND1) genes of Ac were almost identical to those of T. solium but differed substantially from those of the other Taenia species. In phylogenetic analysis, Ac clustered with T. solium in a well-supported clade. Our results strongly suggest that Ac may have originated from T. solium.

Paracetamol poisoning unmasking factor VII deficiency

2002 ◽  
Vol 14 (4) ◽  
pp. 441-443 ◽  
Author(s):  
Andrew P. Chilton ◽  
Tariq Hussain ◽  
Elwyn Elias
Keyword(s):  
Factor Vii ◽  
Paracetamol Poisoning ◽  
Factor Vii Deficiency

W. T. Astbury and Ross G. Harrison: the search for the molecular determination of form in the developing embryo

1980 ◽  
Vol 35 (2) ◽  
pp. 195-219 ◽  
Keyword(s):  
Royal Society ◽  
Limb Bud ◽  
Amphibian Embryo ◽  
X Ray ◽  
Biological Phenomena ◽  
Biology I ◽  
Series Of Experiments ◽  
Molecular Patterns ◽  
Molecular Determination

Amongst the Fellows elected to the Royal Society in 1941 were W. T. Astbury for his studies using X-ray analysis to study the structures of natural fibres, and amongst the Foreign Members elected that year was Ross G. Harrison for his contributions to embryology. Astbury and Harrison were very different in temperament, and worked in very different fields on either side of the Atlantic, yet they were united in their approach to the study of biological phenomena. Both Astbury and Harrison believed that the organization and form of biological materials whether wool fibres or the limb-bud in an amphibian embryo depended on molecular structure and pattern. Moreover both were concerned with dynamic aspects of form; Astbury’s greatest achievement was to demonstrate the dynamic, reversible folding and stretching of proteins in the k-m-e-f group, and Harrison looked to changing molecular patterns to account for changing symmetries in the developing embryo. It was this common approach that brought them together and led to Harrison spending a brief month in Leeds where they and K. M. Rudall performed what have been described as ‘truly progressive experiments in molecular biology’. I believe this short series of experiments illuminates the character and work of both Harrison and Astbury and illustrates the difficulties, practical and conceptual, in carrying out ‘progressive experiments’. I shall begin by reviewing briefly the embryological background of the time before going on to discuss in detail the approaches of Harrison and Astbury to their work and the outcome of their collaboration.

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