Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023418 (leukemia)
 93,477 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three of five siblings developed a progressive neurological disorder during infancy or early childhood characterized by cerebellar ataxia, choreoathetosis and peripheral neuropathy. Immunological studies revealed a marked selective deficiency of serum IgE in all three affected siblings. There was evidence of chromosomal instability in the three affected siblings and in one of the parents. One of the affected siblings also developed acute lymphoblastic leukaemia. In spite of many resemblances, this syndrome differs from classical or complete ataxia telangiectasia in that oculocutaneous telangiectases were lacking, the serum IgA and alpha-fetoprotein levels in this family were normal, there was no gonadal dysgenesis, and the cytogenetic findings were atypical.
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PMID:Ataxia-without-telangiectasia. Progressive multisystem degeneration with IgE deficiency and chromosomal instability. 659 63

It is well known that some of the widely used antibodies directed against hemopoietic antigens exhibit cross-reactivity with normal and neoplastic nonhemopoietic cells. By contrast, relatively little is known about the immunoreactivity of hemopoietic cells with antibodies that detect nonhemopoietic antigens. In this study 43 routinely processed bone marrow biopsy specimens containing infiltrates of acute leukemia of different subtypes were stained with a panel of 20 antibodies that detect nonhemopoietic antigens in formalin-fixed and paraffin-embedded tissue. Thirteen of the antibodies applied (KL1; BMA 120; and antibodies against epithelial membrane antigen, alpha-fetoprotein, prostate-specific acid phosphatase, prostate-specific epithelial antigen, placental alkaline phosphatase, alpha-amylase, serotonin, bombesin, beta-human chorionic gonadotrophin, desmin, and S-100 protein) did not stain blast cells in any of the cases. However, anti-vimentin, HMB45, and anti-myoglobin stained blast cells in the majority of the cases; the antibodies against thyroglobulin, actin, and carcinoembryonic antigen stained blast cells in 10% to 25% of the cases; and anti-neuron-specific enolase stained blast cells in less than 10% of the cases. No correlation was found between the leukemia subtype and the pattern of immunoreactivity. The staining specificity, (i.e., the specificity of binding of the primary antibody--immunologic vs. nonimmunologic binding), was tested by increasing the dilution of the primary antibody and comparing the staining intensity in the bone marrow specimens and control tissue. Staining specificity was confirmed only for staining with the antibodies against neuron-specific enolase and vimentin. The findings show that immunoreactivity of tumor cells in bone marrow biopsy specimens for nonhemopoietic antigens does not exclude a diagnosis of acute leukemia.
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PMID:Nonspecific immunostaining of blast cells of acute leukemia by antibodies against nonhemopoietic antigens. 762 98

At US national medical society meetings in 1992, researchers from a major university presented their data on a triple screen of maternal serum tests for the detection of trisomy 21 or fetal Down syndrome. Low maternal serum levels of estriol and alpha-fetoprotein, along with a high level of human chorionic gonadotropin can predict pregnancies at risk. The authors claimed that a person with Down syndrome costs approximately $196,000 including health, education, and residential costs. Simple economic costs about persons with Down syndrome in the cost analysis seem unbalanced. Some recent studies show no increase in divorce rates for families including persons with Down syndrome. In a 1971 review of 104 brothers and sisters of persons with Down syndrome, no specific behavioral disturbances were noted. Among complex costs triple screening threatens the integrity of the medical profession. Genetics counselors promoting nondirective informed consent, but the cost analysis description of Down syndrome are in the mild-to-moderate mental retardation range consistent with a 3rd-9th grade reading level. Less than 1% have leukemia, and less than 3% have in operable cardiac disease. Another cost that is difficult to measure includes the value placed on the maternal, paternal, and familial anxiety caused by genetic screening tests. Triple screening for Down syndrome is about societal concerns and social character. Many methods of health care rationing await the American medical system. A large number of factors must be considered before any system of limiting costs and choices is selected in a pluralistic society. Accepting the fact that limitations to choice must occur is the first step toward future rationality in genetic counseling.
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PMID:The cost of choice: a price too high in the triple screen for Down syndrome. 769 58

Ten Chinese patients were reviewed, all with mediastinal germ cell tumours and treated in our centre during the past 8 years. Three patients with pure seminomas were given chemotherapy with or without radiotherapy. AB achieved complete remission with no relapse. Seven patients with non-seminomatous germ cell tumours (NSGCT) were given chemotherapy, with or without surgery. Two patients with rapid decay of alpha-fetoprotein (AFP) levels (half-life less than or equal to 7.2 days) during chemotherapy achieved complete remission with no relapse. Five patients with prolonged decay of AFP levels (half-life > 7.2 days) failed to achieve complete remission with initial chemotherapy and all but one patient died between 5 and 9 months later. One patient developed acute megakaryocytic leukaemia. Using isoelectric focusing, AFP bands specific to NSGCT were quantified, and comparison was made with the total AFP in five cases. In each case the change in NSGCT-specific AFP concentration in response to therapy closely paralleled that of total AFP. Estimation of NSGCT-specific AFP offers no apparent advantage in monitoring disease response or progression.
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PMID:Primary mediastinal malignant germ cell tumour. Single institution experience in Chinese patients and correlation with specific alpha-fetoprotein bends. 863 19

We report the derivation of eight pluripotent cell lines from common marmoset (Callithrix jacchus) blastocysts. These cell lines are positive for a series of markers (alkaline phosphatase, SSEA-3, SSEA-4, TRA-1-60, and TRA-1-81) that characterize undifferentiated human embryonal carcinoma cells and rhesus embryonic stem cells. All eight cell lines had a modal chromosome number of 46; seven cell lines were XX and one was XY. Two cell lines (Cj11 and Cj62) were cultured continuously for over a year and remained undifferentiated and euploid. In the absence of fibroblast feeder layers, these cell lines differentiated to multiple cell types, even in the presence of leukemia inhibiting factor. Differentiated cells secreted bioactive CG into the culture medium and expressed alpha-CG, beta-CG, and alpha-fetoprotein mRNA, indicating trophoblast and endoderm differentiation. Bioactive CG secretion in differentiating cells was increased substantially in the presence of GnRH agonist D-Trp6-Pro9-NHEt. When grown at high densities, these cells formed embryoid bodies with a close resemblance to early postimplantation embryos, including the formation of a yolk sac, amnion, and an embryonic disc with an early primitive streak. These results make these pluripotent cells strong candidates for marmoset embryonic stem cells.
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PMID:Pluripotent cell lines derived from common marmoset (Callithrix jacchus) blastocysts. 882 27

Long-term outcome was reviewed in 266 consecutive patients with metastatic non-seminomatous germ cell tumours treated at a single institution. The overall 3 year survival was 77%, and 3 year progression-free survival was 71%. Multivariate analysis identified the following clinical features as independent prognostic factors: the presence of liver, bone or brain metastasis, serum human chorionic gonadotropin > or = 10000 U l-1 and/or alpha-fetoprotein > or = 1000 ng ml-1, a mediastinal mass > 5 cm and the presence of 20 or more lung metastases. Age was not of prognostic significance. Patients without any of the above poor-risk factors had a 3 year survival of 91% regardless of etoposide- or vinblastine-containing chemotherapy compared with 61% for the remaining patients. However, etoposide-containing protocols led to significantly improved survival in patients with at least one poor risk factor. After 612 patient-years of observation no case of secondary leukaemia was observed among 119 surviving patients who had received etoposide as part of their treatment. With a median follow-up of 93 months, five patients developed a second germ cell tumour, two patients nongerm cell malignancies. Fourteen patients relapsed after a disease-free interval of more than 2 years, and nine patients died more than 5 years after commencement of treatment underscoring the need to report long-term results. There is some evidence that cumulative experience translates into improved survival and cure rates for patients with poor-risk metastatic disease.
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PMID:Advances in the management of metastatic non-seminomatous germ cell tumours during the cisplatin era: a single-institution experience. 888 18

Creatine kinase (CK)-MB subunit has been recognized as a useful marker for acute myocardial infarction (AMI). However, we recently experienced one case of osteopetrosis with moderately high CK-MB and an abnormal (more than 100%) CK-MB/total (T)-CK ratio without evidence of AMI in a medical examination. We have already experienced 17 cases with an abnormal CK-MB/T-CK ratios in addition to the present case. Those cases were patients with malignant tumor with metastasis (n = 13), leukemia (2), liver cirrhosis (1), and cerebral death (1), and thereby the band of macro-CK was found in the electrophoresis. However, we detected neither the band of macro-CK nor the abnormal levels of tumor markers such as CEA, alpha-fetoprotein, CA-19-9 in the present case. Instead of the macro CK, the high level of CK-BB was detected in electrophoresis. In the medical examination, especially in screening tests, the CK-MB was generally assayed with use of the immunoinhibition method in automated analyzers. The method principle was based on the absence of CK-BB in the patient serum. Since the patient had the past history of pathological fracture in his boyhood, this patient was diagnosed as osteopetrosis. These results suggest that we must consider the possibility of osteopetrosis when an abnormal CK-MB and CK-MB/T-CK ratio without evidence of serious diseases were found. This is simply because of the assay method of immunoinhibition for CK-MB activity.
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PMID:[A case of osteopetrosis with an abnormal CK-MB/T-CK ratio]. 943 4

We describe extensive placental involvement by hepatoblastoma in a 2600 g, 33-week estimated gestational age (EGA) hydropic female fetus with the hepatoblastoma otherwise limited to the liver. The placenta weighed 1190 g and histopathologic examination revealed diffuse tumor emboli in chorionic villous vessels. The placental tumor exhibited a cytologic appearance similar to the primary tumor and showed strong alpha-fetoprotein staining. Although unusual, other congenital tumors, including neuroblastoma and leukemia, have also been described metastatic to the placenta. This case emphasizes the important role of careful histopathologic examination of the placenta which, combined with immunohistochemistry and clinicopathologic correlation, may establish a diagnosis and possibly obviate the need for invasive neonatal diagnostic procedures.
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PMID:Placental involvement in congenital hepatoblastoma. 972 42

We have previously shown, using human T-cell lymphocytotrophic virus-I (HTLV-I)-infected cell lines, that soluble interleukin-6 receptor (sIL-6R) is generated through an alternative splicing mechanism. In this study, we examined human sera for the presence of alternatively spliced soluble IL-6R (AS-sIL-6R). We produced a monoclonal antibody (mAb) recognizing the unique sequence of AS-sIL-6R peptide, generated by an altered reading frame. We also made recombinant AS-sIL-6R protein in Spodoptera frugiperda-9 (Sf-9) cells carrying baculovirus, which encoded altered sIL-6R or conventional IL-6R cDNA. mAbs specifically recognized AS-sIL-6R, but not conventional IL-6R, as demonstrated by Western blot analyses, fluorescence-activated cell sorter, immunofluorescence analyses and enzyme-linked immunosorbent assay (ELISA). We adapted an ELISA system and used it for detection of altered sIL-6R in sera from 23 healthy persons, 12 patients with adult T-cell leukaemia (ATL) and 13 patients with HTLV-I-associated myelopathy (HAM). Serum levels of AS-sIL-6R were 6.4 or 6.1 times greater in ATL (28.7+/-20.4 ng/ml, P<0.0001) and in HAM patients (27.5+/-12.1 ng/ml, P<0.0001) than in healthy individuals (4.5+/-2.1 ng/ml). High levels of AS-sIL-6R were also observed in plasma from rheumatoid arthritis patients and in persons with elevated levels of alanine aminotransferase (ALT), antinuclear antibody (ANA), or alpha-fetoprotein (AFP). However, in human immunodeficiency virus-1 (HIV-1), hepatitis B virus (HBV) or hepatitis C virus (HCV)-infected individuals, AS-sIL-6R levels were not elevated. In this study, we confirmed that AS-sIL-6R is indeed present in human sera. These observations suggest that alternative splicing of IL-6R mRNA is of consequence in ATL, HAM and in some autoimmune diseases. The HTLV-I-infected T cells appeared to play an important role in AS-sIL-6R production.
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PMID:High-level production of alternatively spliced soluble interleukin-6 receptor in serum of patients with adult T-cell leukaemia/HTLV-I-associated myelopathy. 982 98

Although the biological functions of alpha-fetoprotein ( AFP ) have been extensively studied, little is known about its effect on tumor cell growth. Our previous work has found that human AFP significantly stimulates the growth of mouse hepatoma cells in vitro. The purpose of the present study is to observe the effect of AFP on the proliferation of human hepatoma cells in vitro. Using a MTT- microculture tetrazolium assay, we found that the proliferation of human hepatoma cells was enhanced by in vitro treatment of AFP. However, the same concentrations of AFP had no effect on HL - 60 human leukemia cell proliferation, indicating that the human hepatoma cell proliferation - promoting role of AFP was not simply due to non-specific addition of exogenous protein and the proliferation enhancement of AFP showed certain tumor cell specificity. On the other hand, the growth stimulation of AFP could be diminished by rabbit anti - human AFP antibody. The anti- AFP antibody alone suppressed the growth of BEL - 7404 human hepatoma cells, not affecting HL - 60 cell proliferation. BEL - 7404 cell proliferation was not inhibited by normal rabbit immunoglobulins to demonstrate the specificity of anti-AFP effect. Taken together, it is concluded that AFP enhances the proliferation of human hepatoma cells in vitro, and this effect is seemingly mediated by an AFP/receptor autocrine pathway.
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PMID:Alpha-fetoprotein enhances the proliferation of human hepatoma cells in vitro. 1002 38


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