scholarly journals Molecular Abnormality

2020 ◽  
Author(s):  
Keyword(s):  
Molecular Abnormality

Antithrombin III Alger: A New Homozygous AT III Variant

1986 ◽  
Vol 55 (02) ◽  
pp. 218-221 ◽  
Author(s):  
A M Fischer ◽  
P Cornu ◽  
C Sternberg ◽  
F Mériane ◽  
M D Dautzenberg ◽  
...  
Keyword(s):  
Family History ◽  
Antithrombin Iii ◽  
Antigen Concentration ◽  
Crossed Immunoelectrophoresis ◽  
The Family ◽  
At Iii ◽  
Molecular Abnormality ◽  
Slow Moving ◽  
Cofactor Activity ◽  
Plasma Heparin

SummaryA qualitative abnormality of antithrombin III (AT III) was found in the plasma of a 41-year old patient. The plasmatic AT III antigen concentration was 130% and the progressive anti-F IIa and anti-F Xa activities were normal (105% and 137%). The plasma heparin cofactor activity was less than 10%, when measured by F Ila or F Xa inhibition. Crossed immunoelectrophoresis of AT III in the presence of heparin revealed in the plasma an abnormal slow-moving peak. When tested by affinity chromatography on heparin Sepharose, this abnormal AT III did not bind to heparin. Among the investigated relatives, 5 subjects had normal AT III levels, whatever the test used, the nine others having reduced levels of antithrombin heparin cofactor activity (45-61%) but normal levels of immunoreactive AT III (97-122%). Consanguinity was found in the family history. We therefore considered our patient as homozygous for an AT III molecular abnormality affecting the binding site for heparin.

scholarly journals Molecular abnormality of plasminogen.

1980 ◽  
Vol 255 (11) ◽  
pp. 5442-5447
Author(s):  
Y. Sakata ◽  
N. Aoki
Keyword(s):  
Molecular Abnormality

Endothelial progenitor cells are clonal and exhibit the JAK2V617F mutation in a subset of thrombotic patients with Ph-negative myeloproliferative neoplasms

Blood ◽  
2011 ◽  
Vol 117 (9) ◽  
pp. 2700-2707 ◽  
Author(s):  
Luciana Teofili ◽  
Maurizio Martini ◽  
Maria Grazia Iachininoto ◽  
Sara Capodimonti ◽  
Eugenia Rosa Nuzzolo ◽  
...  
Keyword(s):  
Mononuclear Cells ◽  
Myeloproliferative Neoplasms ◽  
Primary Myelofibrosis ◽  
Signal Transducer ◽  
Cell Compartment ◽  
Molecular Abnormalities ◽  
Endothelial Colony Forming Cells ◽  
Molecular Abnormality ◽  
Thrombotic Complications ◽  
Human Androgen Receptor

Abstract In this study we investigated whether neoplastic transformation occurring in Philadelphia (Ph)–negative myeloproliferative neoplasms (MPNs) could involve also the endothelial cell compartment. We evaluated the level of endothelial colony-forming cells (E-CFCs) in 42 patients (15 with polycythemia vera, 12 with essential thrombocythemia, and 15 with primary myelofibrosis). All patients had 1 molecular abnormality (JAK2V617F or MPLW515K mutations, SOCS gene hypermethylation, clonal pattern of growth) detectable in their granulocytes. The growth of colonies was obtained in 22 patients and, among them, patients with primary myelofibrosis exhibited the highest level of E-CFCs. We found that E-CFCs exhibited no molecular abnormalities in12 patients, had SOCS gene hypermethylation, were polyclonal at human androgen receptor analysis in 5 patients, and resulted in JAK2V617F mutated and clonal in 5 additional patients, all experiencing thrombotic complications. On the whole, patients with altered E-CFCs required antiproliferative therapy more frequently than patients with normal E-CFCs. Moreover JAK2V617F-positive E-CFCs showed signal transducer and activator of transcription 5 and 3 phosphorylation rates higher than E-CFCs isolated from healthy persons and patients with MPN without molecular abnormalities. Finally, JAK2V617F-positive E-CFCs exhibited a high proficiency to adhere to normal mononuclear cells. This study highlights a novel mechanism underlying the thrombophilia observed in MPN.

scholarly journals Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive

2012 ◽  
Vol 2012 ◽  
pp. 1-6
Author(s):  
Magalie Joris ◽  
Sophie Georgin-Lavialle ◽  
Marie-Olivia Chandesris ◽  
Ludovic Lhermitte ◽  
Jean-François Claisse ◽  
...  
Keyword(s):  
Mast Cell ◽  
Cell Leukaemia ◽  
Therapeutic Approaches ◽  
Kit Mutation ◽  
Short Survival Time ◽  
Therapeutic Choice ◽  
Molecular Abnormality ◽  
Mast Cell Leukemia ◽  
Genotypic Characteristics ◽  
Diagnostic Investigations

Mast cell leukemia (MCL) is a rare and aggressive disease with poor prognosis and short survival time. D816V c-KIT mutation is the most frequent molecular abnormality and plays a crucial role in the pathogenesis and development of the disease. Thus, comprehensive diagnostic investigations and molecular studies should be carefully carried out to facilitate the therapeutic choice. A MCL patient’s case with rare phenotypic and genotypic characteristics is described with review of major clinical biological and therapeutic approaches in MCL.

scholarly journals Detection of the molecular abnormality in chronic myeloid leukemia by use of the polymerase chain reaction

Blood ◽  
1988 ◽  
Vol 72 (6) ◽  
pp. 2063-2065
Author(s):  
A Dobrovic ◽  
KJ Trainor ◽  
AA Morley
Keyword(s):  
Polymerase Chain Reaction ◽  
Chronic Myeloid Leukemia ◽  
Blood Cells ◽  
Myeloid Leukemia ◽  
Lymphoblastic Leukemia ◽  
Leukemic Cell ◽  
Great Sensitivity ◽  
Chain Reaction ◽  
Molecular Abnormality ◽  
Polymerase Chain

The bcr-abl translocation characteristic of chronic myeloid leukemia (CML) was detected by the polymerase chain reaction (PCR) modified to use mRNA as the starting material. Amplification of a sequence spanning the bcr-abl junction was obtained by using peripheral blood cells from all of 20 patients with classic CML, one patient with acute lymphoblastic leukemia probably secondary to CML, and two cell lines derived from patients with CML. The presence of bcr exon 3 in the mRNA was determined from the size of the amplified sequence; it was present in 14 and absent in seven patients. One leukemic cell per 1,000 nonleukemic cells could be readily detected, thus indicating the great sensitivity of the method. This technique is of routine value in CML both for diagnosis and for following the course of treatment.

Biological Characteristics Op Antithrombin III In An Antithrombin III Deficient Family

1981 ◽  
Author(s):  
S Kondo ◽  
T Matsuo ◽  
Y Ohoki ◽  
O Matsuo
Keyword(s):  
Antithrombin Iii ◽  
Recurrent Thrombosis ◽  
Normal Range ◽  
Japanese Family ◽  
Neutralization Activity ◽  
Normal Value ◽  
Antithrombin Activity ◽  
At Iii ◽  
Molecular Abnormality ◽  
Antifactor Xa

In the familial AT III deficiency of a Japanese family, the propositus (a-39-yr old female) and her mother had episodes of recurrent thrombosis and their AT III levels as measured immunologically and biologically were below the normal value. In the plasma of her brother, the AT III concentration as measured immunologically was half of the normal value, but his biological antithrombin activity was within the normal range. The progressive antithrombin activity and antifactor Xa activity of plasma samples in this familial AT III deficiency were within the normal range. Measurements of the rate of thrombin neutralization activity revealed that the brother’s plasma was in the normal range, but the plasma of the propositus and of her mother showed rates of thrombin neutralization activity which were somewhat below the normal value. The rate of thrombin neutralization activity per mg protein of AT III was highest in the plasma of the brother, and became slower in the mother, propositus, and pooled normal plasma in that order. In the plasma of this familial AT III deficiency, the rate of Xa neutralization activity was much slower than the normal value. It is postulated that since the antithrombin of the brother of the propositus was found to react as normal in the neutralization of thrombin, he does not have episodes of thrombosis. Such characteristic hyperfunction of antithrombin in the plasma of the brother may be due to some molecular abnormality of AT III within this hereditary deficient family.

scholarly journals Red cells in sickle cell crisis: observations on the pathophysiology of crisis

Blood ◽  
1977 ◽  
Vol 49 (6) ◽  
pp. 967-979 ◽  
Author(s):  
EE Rieber ◽  
G Veliz ◽  
S Pollack
Keyword(s):  
Sickle Cell ◽  
Red Cells ◽  
Red Cell ◽  
Molecular Abnormality ◽  
Sickle Cell Crisis ◽  
Sickle Cell Crises

Abstract The pathophysiology of the occurrence and resolution of sickle cell crisis is unknown. The molecular abnormality is constant, while crisis is episodic. In the present study, red cell filterability and sickling with deoxygenation have been measured during sickle cell crises. Recovery from sickle crisis is associated with an increased filterability of the circulating red cell and a decreased susceptibility of the red cell to sickle with deoxygenation (p less than 0.05). The possibility that these changes are responsible for the resolution of crisis is suggested.

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