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Biomedical subjects

A Inbal

Publications and source records attributed to A Inbal.

At least 55 records · Page 3Linked to original sources
PubMed1993

Pelger-Huët anomaly mimicking 'shift to the left'.

A case report is presented of an 83-year-old male patient with respiratory distress, body temperature of 38.5 degrees C, bilateral white infiltrates on chest X-ray and ECG showing acute myocardial infarction. Clinical evaluation led to the suspicion of severe infection accompanying lung congestion due to the infarction, mostly because his white blood cell differential count showed a persistent severe 'shift to the left'. Re-examination of his blood smear showed that the 'shift to the left' did not consist of band forms but of a 'Pelger-Huet' anomaly of the granulocytes. Recognition of this anomaly in the light of rapid clinical and radiological improvement precluded the administration of antibiotics for the diagnosis of severe infection with pulmonary involvement, which responded to diuretic therapy alone.

Aged↗
PubMed1992

Characterization of three mutations causing von Willebrand disease type IIA in five unrelated families.

Von Willebrand disease (vWD) type IIA is characterized by decreased ristocetin-induced platelet aggregation, and by the absence from plasma of high molecular weight multimers of von Willebrand factor (vWF). Most mutations causing vWD type IIA are clustered within the A2 domain of the mature vWF subunit that is encoded by exon 28. Using the polymerase chain reaction (PCR), the entire exon 28 from patients with vWD type IIA and normal controls was amplified and sequenced. Three missense mutations were detected that result in the amino acid substitutions were detected that result in the amino acid substitutions Arg(834)----Trp, Gly(742)----Glu, and Ser(743)----Leu. The first mutation occurred independently in three unrelated families; each of the latter mutations was found in one family. By restriction endonuclease analysis and allele-specific oligonucleotide (ASO) hybridization the mutations were confirmed in affected family members and excluded in unaffected members and 50 normal controls. The apparently high frequency of identical independent mutations among patients with vWD type IIA suggests that a precise diagnosis may be possible in a majority of patients using relatively simple recombinant DNA screening assays.

Alleles↗
PubMed1992

Unique expression of von Willebrand factor by type IIA von Willebrand's disease endothelial cells.

Endothelial cells (EC) were cultured from the umbilical cord of a male neonate whose mother was previously diagnosed with type IIA von Willebrand's disease (vWd). The diagnosis of type IIA vWd in the proband was confirmed by low ristocetin activity and the absence of the highest molecular weight (MW) forms of von Willebrand factor (vWf) in his platelet poor plasma. The vWf of EC cultured from the neonate's umbilical cord differed from that of control EC and the cell line EA.hy926 in two respects. Firstly, the full range of molecular weight forms was present in the patient EC lysate and, secondly, vWf:Ag expression was approximately seven-fold greater than that of control cells. Platelet lysates prepared from other affected members of the type IIA vWd family in the presence or absence of proteolytic inhibitors demonstrated a near normal vWf multimeric distribution. Resistance of these high MW forms to heat degradation was conferred by the presence of proteolytic inhibitors. Moreover, the full plasma vWf multimeric distribution could not be restored by the inclusion of EDTA. N-ethylmaleimide and leupeptin in the anticoagulant during the rapid preparation of platelet poor plasma. These findings lend support to the heterogeneous nature of type IIA vWd and has possible implications in the understanding of the intracellular processes involved in the biosynthesis and storage of the vWf macromolecular complex as well as the pathogenesis of type IIA vWd.

Blood Platelets↗
PubMed1992

The inheritance of type I and type III von Willebrand's disease in Israel: linkage analysis, carrier detection and prenatal diagnosis using three intragenic restriction fragment length polymorphisms.

Three intragenic restriction fragment length polymorphisms (RFLPs) were used to study linkage and analyse the mode of inheritance in type I and type III von Willebrand's disease (vWD). In two families linkage was established between Sac I RFLPs and the inheritance of type I vWD. RFLP analysis of amniocyte DNA from a potentially affected foetus enabled us to establish a prenatal diagnosis of vWD in a third family with type I vWD. Linkage was also established in four families between the Sac I and two Taq I RFLPs and the inheritance of type III vWD. All type III probands were homozygotes and inherited the same mutant vWF allele from both parents. Heterozygous carriers from one type III family were phenotypically normal and could be detected only by linkage analysis, whereas carriers from the remaining three type III families were asymptomatic but had decreased values of vWF antigen and activity. RFLP-based linkage analysis of vWD alleles provides a way to improve the diagnostic precision, detect carriers, and may be useful for prenatal diagnosis of type III vWD.

Female↗
PubMed1991

Haemarthrosis in patients with mild coagulation factor deficiency.

While haemarthrosis is a common finding in severe factor VIII or IX deficiency, it is unusual in mild coagulation factor deficiencies. We describe three patients with mild factor IX, X or XI deficiency who presented with spontaneous haemarthrosis. All underwent joint puncture with subsequent worsening of the haemarthrosis in the affected joint. This report indicates that: (i) even mild coagulation factor deficiency may be associated with haemarthrosis; (ii) patients with suspected haemarthrosis should undergo routine screening coagulation tests before joint puncture; and (iii) any abnormalities in the screening tests indicate a need for further evaluation of the coagulation status. In such cases puncture of the joint should be deferred and specific therapy started immediately.

Adult↗
PubMed1990

Molecular studies of von Willebrand disease: reduced von Willebrand factor biosynthesis, storage, and release in endothelial cells derived from patients with type I von Willebrand disease.

Endothelial cells were cultured from the umbilical veins of two neonates with type I von Willebrand disease (vWD) and compared with cells cultured in parallel from normal control umbilical veins. In both cases, cultured vWD endothelial cells contained less messenger RNA (mRNA) encoding von Willebrand factor (vWF), and constitutively secreted two- to fourfold less vWF protein than their matched controls. Regulated secretion of stored vWF induced by thrombin or phorbol-12-myristate-13-acetate (PMA) was also diminished in vWD cells. Both the mRNA and protein produced by each of these type I vWD cells appeared to be of normal size. However, despite the diminished size of the vWF storage pool, electron microscopy of endothelial cells in situ showed normal appearing vWF storage organelles (Weibel-Palade bodies). These studies show that cultured umbilical vein endothelial cells can be used to explore the molecular defects in type I and perhaps other forms of vWD, and suggest that at least some forms of type I vWD are caused by diminished mRNA transcription or subsequent translation due to a defective vWF allele.

Adult↗
PubMed1989

Glycocalicin binding to von Willebrand factor adsorbed onto collagen-coated or polystyrene surfaces.

In order to analyze the interaction of platelets with von Willebrand factor (vWF) and collagen, we studied the binding of glycocalicin (GC) and formalin-fixed platelets to vWF adsorbed onto uncoated or collagen-coated polystyrene surfaces. These studies show that three-fold more vWF binds to collagen-coated polystyrene than to polystyrene coated with fibrin monomer or fibrinogen. At saturation, 37 +/- 2.9 ng vWF bound to the collagen-coated wells, compared to 12.8 +/- 5.4 ng, and 10.9 +/- 2.7 ng of vWF bound to wells coated with fibrin monomer and fibrinogen, respectively. GC also bound significantly more to collagen-coated wells than to wells coated with fibrinogen, and this binding was increased approximately two-fold (from 7 +/- 0.65 ng to 14 +/- 1.1 ng) in the presence of vWF adsorbed to the collagen-coated surface. Only 2 ng of GC was bound to 3000 ng of vWF when the latter was adsorbed directly onto a polystyrene surface. In contrast, GC binding to vWF adsorbed onto a collagen-coated surface was enhanced 600-fold with 7.0 ng of GC bound to 18 ng of immobilized vWF. Formalin-fixed platelets showed little binding to vWF adsorbed onto the microtiter wells. At saturation, 7 x 10(4) platelets bound to 3000 ng of vWF; a 6-fold increase in platelet binding was observed using collagen-coated wells and this binding was increased even further in the presence of vWF, resulting in 250-fold increase in platelet binding to vWF when the latter was adsorbed onto a collagen surface. These studies suggest that (1) GC is involved in platelet binding to collagen and this binding is increased by vWF; (2) GC binding to vWF is enhanced by the collagen-coated surface; (3) the adsorption of vWF onto a collagen surface may induce conformational changes in vWF that promote its interaction with GC or glycoprotein Ib.

Adsorption↗
PubMed1989

Hepatic infarction in a patient with the lupus anticoagulant.

We describe a 31-year-old patient with missed abortion, thrombocytopenia, and clinical, laboratory, and radiologic evidence of hepatic infarction. On evaluation, she was found to have the lupus anticoagulant. The association between enhanced thrombosis and the lupus anticoagulant is discussed, and previously reported thrombotic complications are described. The etiology, clinical course, and radiologic features of liver infarction are summarized, and the importance of recognizing and treating this form of hypercoagulability is stressed. To our knowledge, this is the first description of liver infarction associated with the lupus anticoagulant.

Adult↗
PubMed1987

Lymphocyte urosynthase in non-Hodgkin's lymphoma. An indicator of disease extensiveness.

The activity of lymphocyte uroporphyrinogen synthase (URO-S) was examined in 51 non-Hodgkin's lymphoma (NHL) patients at various follow-up periods. Mean +/- SD activity (pmol porphyrin/mg protein/hr) at diagnosis (n = 24), on relapse (n = 14) and during active disease (n = 14) were 31.7 +/- 19.8, 31.7 +/- 27.2 and 29.4 +/- 18.5, respectively. These values were significantly higher than the enzyme activity during remission (14.1 +/- 4.0), which was in the normal range (14.5 +/- 3.8). Abnormally high activity was found in 65.4% of determinations at diagnosis, on relapse and during active disease, compared to 5.5% during remission (P less than 0.001). Significant association of abnormal URO-S activity was found with advanced clinical stage (P less than 0.01), spleen enlargement (P = 0.048), involvement of bone marrow (P = 0.02), as well as lymphoma cell spread to peripheral blood (P = 0.03). Highly significant correlation (r = 0.65, P less than 0.001) was found between URO-S activity and serum lactic dehydrogenase (LDH) levels. Excessively high levels of URO-S activity were found only in patients with lymphoma cells in peripheral blood. No association was found with histopathologic classification and liver size. The authors conclude that URO-S activity is a biochemical indicator for patients in all stages of NHL and seems to be a specific marker for the extensiveness of the disease.

Adolescent↗
PubMed1986

von Willebrand protein facilitates platelet incorporation in polymerizing fibrin.

von Willebrand protein was found to promote the incorporation of platelets into evolving fibrin thrombi. Using formalin-treated or fresh platelets, both the initial rate and extent of platelet incorporation into polymerizing fibrin were dependent on von Willebrand protein. von Willebrand protein was incorporated into evolving fibrin thrombi in parallel with platelets. Soluble fibrin monomer covalently linked to acrylonitrile beads (Matrex 102) bound von Willebrand protein specifically and saturably with an apparent approximate dissociation constant (KD) of 15 micrograms/ml. Glycocalicin, the water-soluble proteolytic fragment of glycoprotein Ib, bound to fibrin monomer in this system specifically and saturably, as well, with an apparent approximate KD of 5 micrograms/ml, but only in the presence of saturating concentrations of von Willebrand protein. These data demonstrate that the initial rate and extent of platelet incorporation into evolving fibrin thrombi are dependent on von Willebrand protein; von Willebrand protein serves as a link between polymerizing fibrin and platelet surface glycoprotein Ib; and von Willebrand protein binds to fibrin monomer and is thereby able to bind to platelet surface glycoprotein Ib in the absence of ristocetin.

Blood Platelets↗
PubMed1985

Hemophagocytosis simulating malignant histiocytosis: a terminal event of the myelodysplastic syndrome.

We describe a patient with hemophagocytic syndrome resembling malignant histiocytosis which was complicating myelodysplastic disease of 3 years duration. Detailed morphological and ultrastructural studies indicate that the histiocytic component did not demonstrate features of malignancy. A review of other known malignancies ending up in the hemophagocytic syndrome is given, and the significance of this syndrome is discussed.

Aged↗
PubMed1985

Persistent lymphocytosis: an unusual feature in sarcoidosis.

Persistent lymphocytosis as a presenting sign in sarcoidosis is described in a 61-year-old man. Lymphocytosis is an unusual finding in sarcoidosis. The case presented seems to suggest that sarcoidosis should be considered in the differential diagnosis of lymphocytosis.

Diagnosis, Differential↗