Familial monocytic leukaemia. A report of two families.
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Biomedical subjects
Publications and source records attributed to A Rausing.
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Type I dyserythropoietic anaemia was diagnosed in an infant, who presented with respiratory distress and hepatosplenomegaly soon after birth. Anaemia became manifest during the neonatal period. The case clearly proves the congenital nature of the disease. Abnormalities of the myelopoietic series indicate that it might be a stem cell disease and the presence of skeletal anomalies of the hands suggests a genetic relationship to some cases of Fanconi and Diamond anaemia. No serum lipid or vitamin E deficiency was present as in type II congenital dyserythropoietic anaemia. Serial serum ferritin determinations indicated that iron stores are increased early in type I congenital dyserythropoietic anaemia despite no transfusion load.
22 different human ovarian tumours were heterotransplanted subcutaneously to female "nude" mice. When small tissue pieces were used 10 out of 16 tumours grew. Subcutaneous injections of suspended tumour cells were made to 11 mice: all failed. Metastatic or infiltrative growth was never seen in the mice observed for up to 25-40 days. Material from each tumour was transplanted to four separate sites in two mice. The successful grafts largely retained the original morphological features. As measured with H3-thymidine incorporation, DNA-synthesis was also similar in the original tumours and the growing grafts. This animal in vivo model might be highly informative for the study of inter alia fundamental biology, chemotherapy, and irradiation of ovarian tumours.
Angiography of the internal mammary artery was performed in 30 patients with suspected tumors in the anterior mediastinum. In 3 patients, thymic venography was also performed. In 13 lymphoepithelial thymomas, a smooth outline with the arteries penetrating the periphery of the tumor was demonstrated. Frequently, neovascularity but never encasement of large arteries or arteriovenous (AV) shunting was exhibited. In the lymphoepithelial thymomas of the cell-rich type, the accumulation of contrast medium and neovascularity were pronounced. This type of thymoma may possibly be locally more invasive than others. In carcinomas, the arteries penetrated the tumor and AV shunting was common. Arteriography was superior to venography in the few patients in whom both examinations were performed. Angiographically, it should be possible to differentiate thymomas from carcinomas.
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A case of cardiac amyloidosis with severe heart failure is presented. The diagnosis was confirmed by myocardial biopsy. The microscopical and ultrastructural changes in this biopsy are described in detail.
A case of chronic non-neuronopathic Gaucher's disease is presented. The diagnosis was based on the finging of typical Gaucher cells in the bone marrow spleen. The patient also had a benign monoclonal gammapathy. Immunofluorescence studies of bone marrow and spleen were performed using monospecif antisera against immunoglobulin heavy and light chains. The results indicate a monoclonal plasma cell proliferation in the bone marrow, whereas the distribution of plasma cells in the spleen was polyclonal. The combination of chronic Gaucher's disease and monoclonal gammapathy was also found in the patient's brother.
In an infertile man and his only, likewise infertile, brother the sperm contained only round-headed spermatozoa. Electron microscopic examination of embedded ejaculate revealed a malformation, viz. absence of acrosomes in all the spermatozoa with consequent lack of normal development of the heads of the spermatozoa. Acrosomeless spermatozoa were also found in the testicular tubuli. No disturbance of the endocrine functions could be demonstrated. The blood cells were of normal male karyotype. Investigation of meiosis, on the other hand, showed rudimentary second division. Two other unrelated infertile men showed the same isolated disturbance in their spermiogram. Treatment with chlomiphene had no effect on the structure of the spermatozoa or on the infertility. The rare disorder, which seems to be a special syndrome, the first hitherto distinguishable among the various types of teratospermia, and its probable background are discussed.
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