Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case is presented of a woman with primary hyperparathyroidism due to a parathyroid adenoma with deep mediastinal localization successfully treated surgically. The disease was manifested at the beginning with joint pains only, followed by extreme bone, renal and metabolic disorders endangering the life of the patient. The unusually severe sceleton decalcification is linked with the functional exhaustion of the calcitonin C producing cells. The changes in these cells in the resected thyroid tissue were discrepant with the hypercalciemia. A special feature of the case is the combination of parathyroid adenoma with a number of dysmorphic signs, with a persistent thymus and beta-thalassemia (heterozygotic form) with familial predisposition--thalassemia of the mother and malformations of the patient's child. On this basis the authors presume a genetic determination of the basic disease similar to other forms of primary hyperparathyroidism.
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PMID:[A combination of ectopic parathyroid adenoma and thalassemia with manifestations of extreme hyperparathyroidism]. 274 49

Peripheral blood T-lymphocyte subsets, evaluated by means of a series of monoclonal antibodies, were assessed in 14 patients affected by thalassaemia intermedia, 7 of them previously splenectomized. A significant reduction of T+4 cells ('helper' T cells) was found in almost all patients, whereas T+8 cells ('suppressor/cytotoxic') showed a marked increase only in splenectomized subjects. Together with these quantitative T-subset abnormalities, which seemed to be partly affected by either splenectomy or high serum iron levels, an unusual circulating T-cell subpopulation labelled by T6 monoclonal antibody was detected in all patients. Complete disappearance of T+6 cells ('thymocyte-like' T lymphocytes) and normalization of the T4/T8 ratio was observed after 'in vitro' incubation of patient's lymphocytes with a crude thymus extract (Thymostimulin). This would suggest the presence of a so far unreported thymus-dependent defect of T-lymphocyte phenotypic maturation occurring in thalassaemia intermedia.
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PMID:T-subset abnormalities in thalassaemia intermedia: possible evidence for a thymus functional deficiency. 644 19

The effects of cytokine stimulation during retroviral transduction on in vivo reconstitution of mouse hematopoietic stem cells was tested in a murine competitive repopulation assay with alpha-thalassemia as a marker to distinguish donor and recipient red blood cells (RBCs) and the enhanced green fluorescent protein (EGFP) as a marker for gene transfer. After transplantation, EGFP was detected in up to 90% of circulating RBCs, platelets, and leukocytes, and in primitive progenitors in bone marrow (BM), spleen, and thymus of individual transplanted mice for observation periods of more than 6 months. Large quantitative differences in reconstitution were observed after transplantation with graded numbers (1000-30, 000) of EGFP(+) cells preconditioned with various combinations of Kit ligand (KL), FLT-3 ligand (FL), thrombopoietin (TPO), interleukin 3 (IL-3), and IL-11. Relative to nonmanipulated BM cells, repopulation of EGFP(+) cells was maintained by KL/FL/TPO stimulation, but approximately 30-fold reduced after KL/FL/TPO/IL-3, or KL/FL/IL-3/IL-11. These differences were not caused by changes in the ability of immature hematopoietic cells to home to the BM, which was only moderately reduced. In conclusion, these quantitative transplantation studies of mice demonstrate the importance of optimal ex vivo cytokine stimulation for gene transfer to stem cells with retention of their in vivo hematopoietic potential, and also emphasize that overall in vitro transduction frequency does not predict gene transfer to repopulating stem cells.
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PMID:Stimulation of mouse bone marrow cells with kit ligand, FLT3 ligand, and thrombopoietin leads to efficient retrovirus-mediated gene transfer to stem cells, whereas interleukin 3 and interleukin 11 reduce transduction of short- and long-term repopulating cells. 1104 14

Extramedullary hematopoiesis often occurs in hemoglobinopathies, hemolytic anemias, leukemias, lymphomas, and myeloproliferative disorders. Liver, spleen, and lymph nodes are frequently involved. However, extramedullary hematopoiesis may also develop in other sites such as thymus, kidney, retroperitoneum, and paravertebral areas of the thorax. Extramedullary hematopoietic masses are often microscopic and asymptomatic, but sometimes they lead to tumor-like masses. We describe massive intrathoracic extramedullary hematopoiesis in a 41-year-old man with compound heterozygosis for beta-thalassemia and sickle cell anemia and functional asplenia. We also describe a 39-year-old man with beta-thalassemia intermedia, who was initially diagnosed as having tumor masses, but was later proved, by magnetic resonance imaging, to have extramedullary erythropoietic tissue. These observations provide further support to include extramedullary hematopoiesis among the differential diagnosis of tumor-like masses in patients with hematologic diseases.
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PMID:Intrathoracic masses due to extramedullary hematopoiesis. 1554 49