Probable risk of tumour induction after retro-orbital irradiation for Graves' ophthalmopathy

Retrobulbar irradiation for Graves' ophthalmopathy is considered as a safe treatment and has recently been recommended as the initial treatment for patients with moderately severe eye problems. However, calculations using risk factors presently known reveal a theoretical risk of radiation-induced cancer of 1.2%. Therefore, the authors suggest...

Failure to detect phenylketonuria

Molecular basis for fibrinogen Dusart (Aα 554 Arg → Cys) and its association with abnormal fibrin polymerization and thrombophilia

The molecular defect in the abnormal fibrinogen Dusart (Paris V) that is associated with thrombophilia was determined by sequence analysis of genomic DNA that had been amplified using the polymerase chain reaction. The propositus was heterozygous for a single base change (C → T) in the Aα- chain gene, resulting in the amino acid substitution Aα...

An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, internalization defective receptor

In this report, we describe the characterization of a mutation in the low density lipoprotein (LDL) receptor gene of a true homozygous familial hypercholesterolemic (FH) patient. The combined use of denaturing gradient gel electrophoresis (DGGE) and DNA sequence analysis revealed a unique A to G transition in the penultimate 3'-nucleotide of...

Different repair kinetics of radiation-induced DNA lesions in human and murine white blood cells

Exposure of cells to ionizing radiation gives rise to DNA damage, comprising strand breaks and base modifications. All these lesions may contribute to cell death, mutagenesis and/or carcinogenesis, but their relative contributions are likely to be different. It is important, therefore, to study the various damages with respect to their abundance...

Detection of single-strand breaks and base damage in DNA of blood cells from leukaemia patients receiving chemo- and radiotherapy

Chemotherapy combined with total-body irradiation (TBI), a conditioning regimen for bone-marrow transplantation (BMT), causes lesions in the cellular DNA of the patients treated. To understand possible consequences of the DNA damage induced during such treatment, information is required about the nature of the damage, the level of induction and...

Composition and susceptibility to thrombolysis of pathological human arterial thrombi

Chemicals/CAS: Plasminogen, 9001-91-6; Streptokinase, EC 3.4.-.

Neurohypophyseal astrocytoma (Pituicytoma) in a rhesus monkey (Macaca mulatta)

Chemicals/CAS: Glial Fibrillary Acidic Protein; S100 Proteins; Vimentin

Effect of various levels of selenium in wheat and meat on blood Se status indices and on Se balance in Dutch men

After a 5-week period of low selenium intake, twenty-four Dutch men received 55, 135 or 215 ug Se/d as Se-rich meat or bread for a 9-week period. Four unsupplemented subjects served as controls. Plasma Se increased more rapidly than erythrocyte Se levels; the increases were significantly dependent (P < 0.001) on Se intake level. Glutathione...

A congenitally abnormal fibrinogen (Vlissingen) with a 6-base deletion in the gamma-chain gene, causing defective calcium binding and impaired fibrin polymerization

A congenitally abnormal fibrinogen (Vlissingen) was isolated from the blood of a young woman suffering from massive pulmonary embolism. Fibrinogen Vlissingen showed an abnormal clotting time with both thrombin and Reptilase(TM). The release of the fibrino-peptides A and B by thrombin was normal, but fibrin polymerization was impaired both in the...

a2-Antiplasmin Enschede: Dysfunctional alpha 2-antiplasmin molecule associated with an autosomal recessive hemorrhagic disorder

??2-Antiplasmin (??2-AP) is a major fibrinolysis inhibitor, whose complete, congenital absence has been found to be associated with a distinct hemorrhagic diathesis. We studied a 15-yr-old male with a hemorrhagic diathesis after trauma from early childhood on. This bleeding tendency was associated with a minimal ??2-AP level recorded...

Familial elevation of plasma histidine-rich glycoprotein in a family with thrombophilia

A patient with spontaneous venous thrombotic events, myocardial infarction and a positive family history of thrombosis was investigated for underlying disorders of haemostasis. Abnormally high levels of histidine-rich glycoprotein were found. No other abnormality known or suspected of increasing the risk for thrombosis was present. Elevated...

A familial hemorrhagic diathesis in a Dutch family: An inherited deficiency of ??2-antiplasmin

This study concerns a case of congenital homozygous deficiency in ??2-antiplasmin associated with a severe hemorrhagic diathesis. Heterozygous family members also show a mild bleeding tendency. The propositus is a 17-yr-old male born of white parents and showing a severe hemorrhagic diathesis characterized by spontaneous bleeding in the joints...

The Creutzfeldt-Jakob disease: Part II

Part I of this article reviewed aetiological and clinical phenomena related to the Creutzfeldt-Jakob disease. A case history of one patient was presented together with some electro-encephalographic aspects in relation to this disease and results of computer analysis of the EEG. The slow virus concept and its implications for treatment of...

Factual or artificial inhibition of fibrinolysis and the occurrence of venous thrombosis in 3 cases of Behcet's disease

3 patients with Behcet's disease were studied for their fibrinolytic status during exacerbation of the disease accompanied with thrombotic complications. All 3 patients exhibited low euglobulin fibrinolytic activity. This, however, could be attributed to an artificially increased coprecipitation of inhibitors, i.e., C1-inactivator in the...