Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study is based upon an analysis of the hematologic and pathologic material from seven patients with acute myelosclerosis, as well as a review of the literature of 49 cases reported under this designation, or one of its synonyms. Patients with this disease characteristically present with pancytopenia, minimal or absent anisocytosis and poikilocytosis, and a fibrotic bone marrow showing hyperplasia and immaturity of all three cell lines, with particular prominence of megakaryocytes and their precursors. In addition, clinical splenomegaly is almost always absent, and the disease has a rapidly fatal course. We consider only one-fourth of the cases reported in the literature to have the clinical and hematologic features consistent with the diagnosis of acute myelosclerosis; the remainder represent a variety of myeloproliferative disorders, including chronic myelosclerosis with an accelerated terminal phase, acute myeloblastic leukemia with bone marrow fibrosis, myeloproliferative diseases that cannot be subclassified, and cases in which the data are insufficient for analysis. Using strict clinical and hematological criteria, acute myelosclerosis can be separated from other myeloproliferative disorders as a distinct clinicopathologic entity.
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PMID:Acute ("malignant") myelosclerosis. 36 69

We report a case of acute myelofibrosis. This is a rare myeloproliferative disorder characterized by pancytopenia, minimal or absent anisopoikilocytosis, bone marrow fibrosis with hyperplasia and immaturity of the three main cellular lines with megakaryocyte predominance, absence of splenomegaly and rapidly fatal course. We discuss its relationship with acute megakaryocytic leukemia, as its blast elements correspond to megakaryocytes when ultrastructural and antifactor VIII immunoperoxidase techniques are used; these techniques disclose alpha granules and cell demarcating membranes.
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PMID:[Acute myelofibrosis: apropos of a case with immunocytochemical and ultrastructural studies]. 249 79

A boy, born after 41 weeks of gestation, presented with splenomegaly, microcephaly and chorioretinitis accompanied by immaturity signs. His mother was in good health but her previous pregnancy had been aborted owing to rubella. Laboratory data, including serological and virological evidence, confirmed the diagnosis of fetal cytomegalovirus infection. CT scan indicated a large cyst in the left temporal lobe and periventricular calcifications. At about 8 months of age, convulsions were noticed which were not controlled effectively by medication. There was spastic rigidity without significant psychomotor development. He died at the age of 15. Postmortem neuropathological examination revealed polymicrogyria predominant in the right cerebral hemisphere as well as a large cavity in the left temporal lobe communicating with the lateral ventricle. Widespread heterotopias and calcifications were observed notably in the periventricular white matter. No typical inclusion was found. By the method of Holzer and GFAP immunocytochemistry, no gliosis was noted in the cerebral cortex having the feature of polymicrogyria. This might support the theory that polymicrogyria is caused by neuronal migration failure.
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PMID:[Cytomegalovirus fetal infection. Porencephaly with polymicrogyria in a 15-year-old boy]. 894 48

AML1 (RUNX1) encodes a DNA-binding subunit of the CBF transcription factor family and is required for the establishment of definitive hematopoiesis. AML1 is one of the most frequently mutated genes associated with human acute leukemia, suggesting that genetic alterations of the gene contribute to leukemogenesis. Here, we report the analysis of mice carrying conditional AML1 knockout alleles that were inactivated using the Cre/loxP system. AML1 was deleted in adult mice by inducing Cre activity to replicate AML1 deletions found in human MDS, familial platelet disorder and rare de novo human AML. At a latency of 2 months after induction, the thymus was reduced in size and frequently populated by immature double negative thymocytes, indicating defective T-lymphocyte maturation, resulting in lymphatic diseases with 50% penetrance, including atypical hyperplasia and thymic lymphoma. Metastatic lymphomas to the liver and the meninges were observed. Mice also developed splenomegaly with an expansion of the myeloid compartment. Increased Howell-Jolly body counts indicated splenic hypofunction. Thrombocytopenia occurred due to immaturity of mini-megakaryocytes in the bone marrow. Together with mild lymphocytopenia in the peripheral blood and increased fractions of immature cells in the bone marrow, AML1 deficient mice display features of a myelodysplastic syndrome, suggesting a preleukemic state.
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PMID:AML1 deletion in adult mice causes splenomegaly and lymphomas. 1624 65

Chronic myelogenous leukemia (CML) is a pluripotent stem cell disease characterized by anemia, granulocytosis and granulocytic immaturity, basophilia, thrombocytosis and splenomegaly. It is associated with a reciprocal chromosomal translocation t (q34; q11), resulting in a breakpoint cluster region-Abelson fusion gene (Philadelphia chromosome). Ophthalmic manifestations as the first and the only presentation of CML in patients are very rare. Ocular lesions in CML patients are frequently asymptomatic, and thus all patients should undergo an eye evaluation at the initial diagnosis. Here, we report a previously healthy 36-year-old Saudi male who initially presented with progressive loss of vision. On examination, he was found to have a bilateral retinal hemorrhage. The investigations revealed findings consistent with CML. The patient was treated with tyrosine kinase inhibitors, and he had complete remission, including full recovery of his vision.
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PMID:Sudden Visual Loss as an Initial Manifestation of Chronic Myeloid Leukemia. 3078 3