Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We evaluated a 13-month-old boy with cytoplasmic inclusions in hematopoietic cells, transfusion-dependent anemia, splenomegaly, and striking grey skin discoloration. Bright blue inclusions, 1 to 5 microns in diameter, were observed, primarily in the cytoplasm, of 30% to 40% of myeloid cells and in occasional monocytes, megakaryocytes, and lymphocytes on Wright Giemsa-stained bone marrow and blood smears. They occasionally involved the nucleus. The inclusions lacked lysosomes, polysaccharides, or lipids. Ultrastructurally, they lacked limiting membranes and consisted of tightly packed microfilaments averaging 7 nm in diameter, consistent with the size of actin monofilaments. On light microscopy, the inclusions stained with a monoclonal antibody to muscle-specific actin. Inclusion-positive cells contained increased F-actin content and were defective in chemotactic factor-activated actin polymerization; inclusion-negative cells polymerized actin normally. Neutrophil and platelet numbers and functional studies were mildly abnormal. Anemia and skin discoloration resolved spontaneously after 18 months, but the giant inclusions have persisted to the present. We conclude that this child has a previously unreported constellation of clinical and laboratory findings comprising severe anemia, intermittent neutropenia and thrombocytopenia, abnormal neutrophil migration and platelet aggregation, giant inclusions of actin in hematopoietic cells, and grey skin discoloration.
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PMID:Giant actin inclusions in hematopoietic cells associated with transfusion-dependent anemia and grey skin discoloration. 820 94

Thomas Hodgkin (1798-1866), born into a family of Quakers, would remain faithful all his life to the principles and rules of the 'Society of Friends'. He studied pharmacy and medicine in London, Edinburgh and Paris. As curator for the museum of pathological anatomy of Guy's Hospital (1825-1837) he introduced modern, organ-based, medicine in England, together with the clinicians Richard Bright and Thomas Addison. In 1832 Hodgkin reported autopsy findings of seven patients who had shown swollen lymph glands and an enlarged spleen, without evidence of tuberculosis, purulent inflammation or cancer. Later the diagnosis 'Hodgkin's disease' would be restricted to lymphomas with giant, multinucleated Reed-Sternberg cells on microscopic examination. Especially in his later years, Hodgkin devoted much time and effort to the emancipation of oppressed or destitute minorities, especially abroad. He died of dysentery on a journey to Palestine and lies buried in Jaffa.
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PMID:[Thomas Hodgkin and his disease]. 2249 9