The combined occurrence of hereditary nephritis with nerve deafness (Alport's syndrome) and macrothrombocytopathic thrombocytopenia is very rare. The authors have had the opportunity to study such a case in a 20-year-old man who had been followed since birth. The clinical history, renal biopsy, platelet studies, and autopsy findings are presented. The renal pathologic findings are well defined; however, the hemostatic abnormalities and the hearing loss are not well characterized. In this paper, an attept is made to clarify the diverse platelet functional and morphologic abnormalties.
Six patients with Hodgkin's disease (HD) and demonstrable serum antibodies to human immunodeficiency virus (HIV) and two additional patients with HD belonging to HIV-associated high-risk groups but with negative HIV serology were studied. All patients were men and ranged in age from 21 to 45 years. The HIV risk factors included homosexuality (6), intravenous drug abuse (2), and hemophilia A (1). All patients had high pathologically determined stage (one Stage III and seven Stage IV), and bone marrow involvement was observed in five patients with the initial diagnosis of HD based on marrow biopsy in two cases. Four cases were histologically subclassified as mixed cellularity (MC) and three as nodular sclerosis (NS); one patient underwent only bone marrow biopsy and was not subclassified. Histologically all cases were characterized by numerous Reed-Sternberg cells and variants, and with the exception of one case, all had a distinctive decrease in the proportion of reactive background lymphocytes compared with what is usually expected in MC or NS Hodgkin's disease (relative lymphocyte depletion). Flow-cytometric immunophenotypic studies done on cell suspensions from diagnostic lymph node biopsies in four cases showed decreased CD4:CD8 ratios (mean = 1.4) compared with expected values of 4 to 6. The relative lymphocyte depletion observed histologically is probably a reflection of the decreased tissue CD4:CD8 ratios, and this impairment of host immune response may be related to the observed high stage in all eight cases. Patients with high stage HD and the described histologic and immunologic features should be evaluated for the presence of HIV infection.
Chromosome analysis with giemsa-trypsin banding was performed on circulating myeloblasts and cultured bone marrow fibroblasts from a patient with acute myelofibrosis. Major karyotypic abnormalities were found in the myeloblasts involving chromosomes #1, 3, 5, 13, and 16; no chromosome abnormalities were detected in the fibroblasts. In addition, a pericentric inversion of number 7 was present in the circulating blasts but not the fibroblasts. Pericentric inversions have not previously been associated with acquired abnormalities of malignant cells. These findings support the concept that acute myelofibrosis is a primary malignancy of hematopoietic cells associated with secondary marrow fibrosis. The entity of acute myelofibrosis is discussed and the results of cytogenetic studies of previous reports are reviewed.
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