Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038362 (stomatitis)
 8,852 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 20-year-old female from the Philippines developed anemia and granulocytopenia. With androgen therapy, her anemia improved but she continued to show a pattern of fluctuating neutropenia consistent with human cyclic neutropenia: Blood neutrophil oscillation was regular with a periodicity of 21 days. She developed recurrent pharyngitis and apthous stomatitis but there was no cycling of other blood elements. Bone marrow aspiration and biopsy showed normal developing myeloid cells, a clonal chromosomal abnormality, and myelofibrosis. During the fourth documented cycle, blasts appeared and complete lymphoblastic transformation ensued. Blast cells were CALLA positive, Ia positive, and contained intranuclear TdT; they were negative for E, EAC, and EA rosettes. She was treated for non-T, non-B CALLA-positive ALL and within 6 weeks was in a remission without evidence of cycling neutrophil counts. This young woman's case suggests that cyclic neutropenia may represent a previously unrecognized premalignant state associated with acute lymphoblastic leukemia.
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PMID:Cyclic neutropenia as a premalignant manifestation of acute lymphoblastic leukemia. 345 3

This article describes a rare case of bone marrow transplantation (BMT) from an unrelated donor (URD) in an adult Japanese male with Down syndrome (DS) diagnosed as having acute mixed lineage leukemia. Examination of peripheral blood demonstrated WBC 6.2 x 10(9)/l with 45.5% blasts at admission. Leukemic blasts with positive peroxidase stain, but negative periodic acid-Schiff stain comprised 91.6% on bone marrow specimen. Surface marker analysis of these blasts showed the following: CD3(-), CD5(-), CD7(-), CD10(+), CD19(+), CD13(+), CD14(-), CD33(+), CD34(+), CD41a(-), and CD56(-). Based on these data, he was diagnosed as having acute mixed lineage (myeloid and B-lymphoid lineage) leukemia. He achieved complete remission (CR) by lymphoid-oriented chemotherapy performed after ineffective myeloid-oriented therapy. After four courses of consolidation chemotherapy for lymphoid lineage blasts, recurrence due to proliferation of myeloblasts had occurred. Thereafter, a second CR was obtained by low dose cytosine arabinoside (AraC) therapy. As this patient was considered to have a high risk of relapse, we selected allogeneic BMT from URD. Severe stomatitis due to methotrexate (MTX) occurred probably due to altered pharmacokinetics usually observed in DS patients. Though acute graft-versus-host disease (GVHD) of systemic skin (grade II) and pneumonia were observed during neutropenia due to the post-conditioning regimen, he could be discharged from our hospital on the 135th day after BMT. On day 205 post-BMT, however, bronchiolitis obliterans (BO) occurred as a chronic GVHD disorder. Despite therapy with prednisolone and FK506, he died on day 400 post-BMT because of respiratory failure due to BO. In DS patients, superfluous toxicities due to MTX and AraC treatment have been reported, and these toxicities have been considered due to altered pharmacokinetics in patients with DS. This patient could tolerate the transplant conditioning regimen commonly used in patients without DS.
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PMID:Unrelated donor bone marrow transplantation for acute mixed lineage (myeloid and B-lymphoid lineage) leukemia in an adult with Down syndrome. 1270 27

The notable glomerular feature of human immunodeficiency virus (HIV)-associated nephropathy (HIVAN) is the collapse of the capillary tuft with marked glomerular epithelial cell hyperplasia. These data suggest a loss of normal podocyte function, which is associated with a loss of the podocyte differentiation markers, Wilm's tumor (WT-1), synaptopodin, podocalyxin, and common acute lymphoblastic leukemia antigen (CALLA). We have previously shown that HIV-1 expression can induce these changes in HIV-1 transgenic mice. To identify which HIV-1 gene product(s) are responsible for the phenotypic changes in podocytes, we created multiple mutated HIV-1 constructs and then pseudotyped them with vesticular stomatitis virus glycoprotein (VSVG) envelope to enhance the tropism of these mutant viruses. In addition to gag/pol, the mutant viruses lacked one of the following, env, nef, rev, vif, vpr, or vpu. In addition, we generated single gene expressing pseudotyped viruses to complement the scanning mutation approach of our viral parental construct. Murine podocytes were then infected with one of the viral constructs either lacking or expressing the various HIV-1 genes. We found that HIV-1 nef was necessary and sufficient for proliferation of podocytes and down-regulation of synaptopodin and CALLA. These data suggest that Nef induces many of the changes we observe in HIV transgenic model and, as a result, this now defines the pathway for exploration of host responses to HIV-1 infection.
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PMID:Critical role for Nef in HIV-1-induced podocyte dedifferentiation. 1453 2