[The variants of situational neurotic response in servicemen called up to military service].
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Adaptation, Psychological↗
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Results for “variant calling”
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[The so-called diffuse osteomas of the jaws. A variant of fibrous dysplasia].
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Diagnosis, Differential↗
Agonist-independent activation of Src tyrosine kinase by a cholecystokinin-2 (CCK2) receptor splice variant.
Src activity is elevated in a majority of colonic and pancreatic cancers and is associated with late stage aggressive cancers. However, the mechanisms leading to its increased activity remain largely undefined. Agonist binding to the cholecystokinin-2 (CCK2)/gastrin receptor (CCK2R), a G-protein-coupled receptor, increases Src activity in a variety of normal and neoplastic cell lines. Recently, we and others (Hellmich, M. R., Rui, X. L., Hellmich, H. L., Fleming, R. Y., Evers, B. M., and Townsend, C. M., Jr. (2000) J. Biol. Chem. 275, 32122-32128; Ding, W. Q., Kuntz, S. M., and Miller, L. J. (2002) Cancer Res. 62, 947-952; Smith, J. P., Verderame, M. F., McLaughlin, P., Martenis, M., Ballard, E., and Zagon, I. S. (2002) Int. J. Mol. Med. 10, 689-694) have identified a splice variant of CCK2R, called CCK2i4svR, that is expressed in human colorectal and pancreatic cancers but not by cells of the adjacent nonmalignant tissue. Compared with CCK2R, CCK2i4svR contains an additional 69 amino acids within its third intracellular loop (3il) domain. Because CCK2i4svR is the only splice variant expressed in some human colon and pancreatic cancers, we questioned whether CCK2i4svR could regulate Src activity. Stably transfected HEK293 cells were used because, unlike many cancer-derived cells, they have a low level of basal Src activity. We report that, in contrast to CCK2R, CCK2i4svR activates Src kinase in the absence of agonist stimulation. In vitro kinase assay of immunoprecipitated receptor protein showed a 6-8-fold increase in Src kinase activity associated with CCK2i4svR compared with CCK2R. Expression of the 3il domain of the CCK2i4svR alone was sufficient to partially activate Src kinase. Together, these data support the hypothesis that the increased Src activity observed in some pancreatic and colorectal cancers is due, in part, to the co-expression of CCK2i4svR.
Alternative Splicing↗
DNA typing for HLA class I alleles: I. Subsets of HLA-A2 and of -A28.
A group of HLA-A locus alleles known to be comprised of approximately 14 closely related variants are collectively called HLA-A2 and -A28. Variations among these alleles are given by differences in only a few codons, and in the case of A*6901, elements of A*6801 (exons 1 and 2) and of A*0201 are combined. The purpose of these experiments was to determine the possibility of designing oligonucleotide probes to identify and develop a typing method for all or most of the A2 and A28 variants. Because the regions of interest are also shared by alleles of other groups, allele-specific or group-specific primers were needed to amplify only the alleles under study. HLA-A2-specific amplification of exon 2 and selective amplification of portions of exon 3 of the A2-A28 group were accomplished with sequence-specific primers and after appropriate adjustments of the PCR conditions. Hybridization patterns using products of four PCR reactions with our set of probes distinguished 11 alleles. Two other alleles might be recognized with the reagents used, but were not found in the panels in this study. A*0201 and A*0209, which are different in exon 4, were not resolved because exon 4 was not tested. A new variant of Aw68, defined by a hybridization pattern obtained with our probes, was different from A*6801 only in that it was negative with probe A6. It was called A*68.3. Population studies were performed in North American whites, blacks, and Indians and in a sample of subjects from North China. HLA-A*0201 was the most frequent allele. A*0202 was found only in blacks, and A*0203 and A*0207 were found only in Chinese. Among the A28-positive subjects, Caucasoids were predominantly A*6801 or A*68.3; A*6802 was the most frequent subtype in American blacks; among American Indians the predominant type was A*68.3. The two A28-positive Chinese subjects studied had A*6901. The results obtained demonstrate that DNA typing is an efficient method for determining these alleles. The methodology should be applicable to other class I groups and should be useful for more extensive population studies, for matching for bone marrow transplantation, and for investigation of certain diseases associated with HLA class I alleles.
Alleles↗
Xanthic variant of non-ossifying fibroma (so-called xanthofibroma) of the mandible. An ultrastructural study.
An unusual case of a 37-year-old female with xanthomatous bone tumor of the right molar area of the mandible was presented. The tumor was asymptomatic and found to be a well-demarcated intraosseous radiolucent lesion on radiographic examination. Histologically the tumor consisted of two cell types, fibroblastic and xanthomatous cells. There was no osteoid, bone or cartilage formation. However, numerous psammomatous calcified bodies were seen in the fibrous area. Ultrastructural study showed fibroblastic cells in different stages of proliferation as the basis of the tumor which transform itself into xanthomatous cells. From the clinicopathologic findings, our case was thought to be a xanthic variant of non-ossifying fibroma (so-called xanthofibroma) of the mandible.
Adult↗
Study of the polymorphism of ovine alpha s1- and alpha s2-caseins by capillary electrophoresis.
Polymorphism of ovine alpha s-caseins was studied by capillary electrophoresis at pH 3.0 +/- 0.1. Individual caseins (CN) were selected according to their genetic variants, as determined by PAGE and isoelectric focusing. The ovine caseins, containing different genetic variants of alpha s1-CN and alpha s2-CN, were fractionated by cation-exchange FPLC. The alpha s1-CN variants A, B and C, and the fast moving alpha s2-CN variant were identified by a capillary electrophoresis method. The fast moving alpha s2-CN variant, so-called for its behaviour in PAGE, also had a faster electrophoretic mobility than the common alpha s2-CN when analysed by the present technique. The capillary electrophoresis method gave excellent, rapid, automated separation of alpha s1-CN and alpha s2-CN variants and was suitable for screening studies.
Animals↗
Differential inhibition of the products of the human alkaline phosphatase loci.
1. Inhibition studies have been carried out on a series of ALPs derived from liver, bone, kidney, placenta and intestine, using L-phenylalanine, L-homoarginine, L-leucine, L-leucyl-glycyl-glycine and L-phenylalanyl-glycyl-glycine as inhibitors. 2. No differences between liver, bone and kidney ALPs with any of the inhibitors were observed. 3. L-phenylalanine and L-homoarginine give a major degree of discrimination between liver/bone/kidney ALP on the one hand, and placental and intestinal ALPs on the other. L-leucyl-glycyl-glycine and L-phenylalanyl-glycyl-glycine give a major degree of discrimination between placental ALP on the one hand, and intestinal ALP and liver/bone/kidney ALP on the other. L-leucine discriminates between the three classes, but to a lesser degree. Minor degrees of discrimination between placental and intestinal ALPs occur with L-phenylalanine and L-homoarginine and between intestinal and liver/bone/kidney ALPs with L-leucyl-glycyl-glycine and L-phenylalanyl-glycyl-glycine. By using an appropriate combination of inhibitors the ALPs can be separated into three clearly distinct categories: placental, intestinal and liver/bone/kidney. 4. The six common placental ALP phenotypes as defined by electrophoresis show identical inhibition profiles with the series of inhibitors. The same profile was found for several rare electrophoretic variants. However, two rare electrophoretic variants (P-187 and P-92) each encountered once in a sample of 225 plancentae, showed significantly deviant inhibitions with the various inhibitors and also differed from each other. From the electrophoretic patterns, both of these rare phenotypes appear to be heterozygotes. P-187 probably corresponds to the so-called D-variant previously described. P-92 represents a new type of placental ALP variant with an aberrant inhibition profile. In both cases the particular rare allele concerned evidently alters the primary structure of the enzyme so that it has an altered electrophoretic mobility and also an altered sensitivity to inhibition for each of the different inhibitors. 5. Treatment of the various ALPs with neuraminidase to remove sialic acid residues does not affect their inhibition characteristics or activities.
Adult↗
Pigment synthesizing melanoma (so-called animal type melanoma): a clinicopathological study of 14 cases of a poorly known distinctive variant of melanoma.
AIMS: Pigment synthesizing melanoma (so-called animal type melanoma) (PSM) is a rare histopathological variant of melanoma so termed because of prominent melanin production and its similarity to a variant of melanoma seen in grey horses. The aim of this study was to report the clinicopathological characteristics of 14 cases of animal type melanoma. METHODS AND RESULTS: Six patients were female and eight were male with ages ranging from 5 to 52 years (mean 31 years, median 39 years). The head and neck represented the most common site. The clinical diagnosis was of melanoma in seven cases, blue naevus in three cases, benign naevus in three cases and a pigmented basal cell carcinoma in one case. The histological diagnosis of PSM was predicated on the basis of an asymmetrical, predominantly intradermal tumour formed of deeply pigmented, round or short, spindle-shaped dendritic melanocytes with some degree of hyperchromatism and a single nucleolus. Cytological atypia was always present but was not pronounced. A prominent population of macrophages was invariably present. Four tumours were compound and 10 tumours were predominantly intradermal. The mitotic count was usually low, ranging from 1 to 5 per 10 high-power fields (mean 2). Perineural and lymphovascular invasion was not seen. The Breslow thickness ranged from 1.1 to 7.5 mm (mean 3.3 mm). Follow-up was available in 13 patients. The median follow-up period was 5 years. Six patients had no recurrence, three had local recurrence in the form of satellite nodules adjacent to the scar, four had spread to the regional lymph nodes and one patient had distant metastases to the liver. There were no deaths. CONCLUSIONS: This study demonstrates that PSM is a distinctive, possible low-grade variant of melanoma usually lacking the histological features predictive of aggressive behaviour seen in ordinary melanoma. It should be managed in the same way as other melanomas with wide local excision.
Adolescent↗
An abnormal antithrombin III (AT III) with low heparin affinity: AT III Clichy.
We have identified an inherited qualitative deficiency of antithrombin III (AT III) in a family with apparently no increased incidence of venous thrombosis. Plasma antithrombin and anti-Xa activities were normal, but the interaction with heparin, heparan sulphate and low molecular weight heparin was uniformly decreased. An immunoblotting technique performed in plasma showed normal complex formation with thrombin. By using heparin-Sepharose affinity chromatography and crossed immunoelectrophoresis, the variant could be separated: at least two fractions of low affinity AT III were obtained. A minor one had no antiprotease activity; the other one was further purified to homogeneity and found to have normal specific activity in absence of heparin and a 50% decreased activity in presence of heparin. We propose to call this new variant AT III Clichy.
Adult↗
[Lymph node localization of epidermotropic T malignant lymphomas (mycosis fungoides and Sézary's syndrome)].
In this paper are reported the different histological variants of Mycosis Fungoïdes (M.F.) observed in 48 lymph node positive biopsies providing from 98 lymph nodes obtained from 94 patients with M.F. A partial destruction of the lymphoïd architecture was required for attesting M.F. involvement. The remaining 50 lymph nodes demonstrated dermopathic non specific lesions. A partial lymph node involvement is often observed with a persistent sinusal pattern and residual germinative follicles (39 from 48 cases or 80%). The tumoral infiltration begins in the deep cortex and in the interfollicular areas. Some reactive lesions of dermopathic lymphadenopathy are frequently associated. The main histological feature is the cellular pleomorphism. Nevertheless 4 cytological variants may be described according to the predominant proliferating cells: a small cell variant, a large cell variant, a mixed cell variant comprising an equivalent proportion of small medium and large-sized cells, an immunoblastic variant with majority of immunoblasts and some Sternberg-like tumoral cells. Any form may be associated with granuloma which increase polymorphism. In some histological variants, so-called Lutzner cells are numerous and facilitate the diagnosis of epidermotropic malignant T lymphoma. Nevertheless, some cases may be discussed with centrocytic or centroblastic centrocytic lymphomas, with Pinkus multilobulated T lymphoma or with convoluted lymphoblastic lymphoma. More difficult is the distinction from Lennert T - zone lymphomas and from adult T-cell lymphoma/leukemia described in Japan. The immunoblastic variant may be mistaken with some high-grade malignant non-Hodgkin lymphoma, with an angio-immunoblastic lymphadenopathy, even with a metastatic carcinoma. The evidence of granuloma with numerous eosinophiles frequently observed in the Hodgkin-like variant is a cause of confusion with Hodgkin's disease. A good help would be supplied by the discover of some Lutzner cells among the granuloma. No correlation was found between these histological variants and the M.F. evolution. Evidence of reactive inflammatory cells do not interfere with the prognosis.
Biopsy↗
[Variants of psychosomatic personality development in diseases of the gastrointestinal tract].
612 patients with different psychosomatic disorders of gastrointestinal tract (GIT) were examined. They included either 200 patients with organic stomach disease or with duodenal ulcer as well as 412 individuals with various functional disorders of GIT such as psychogenic vomiting, dysphagia, gastralgia and colon irritability syndrome. In 70% of all cases patientc relatives (1-3 degree of relationship) had also some psychosomatic diseases. All the patients suffered in childhood from so-called GIT-variant of children's neuropathia. Being adults they all met intensive or moderate stress and developed psychogenic depression. Two ways of psychosomatic disorders cristallization on the background of depression were observed, exactly reactivation of children's neuropathia symptomes or rapid affect somatization which were followed by psychosomatic cycles formation and by stress tolerance decrease. Several types of psychosomatic development were described: hypochondrial (78.8%), asthenic (12.4%), obsessive (2.3%), hysterical (4.4%) and paranoial (2.1%).
Adult↗
Control of cell proliferation of human breast MCF7 cells; serum and estrogen resistant variants.
The hypothesis explored in this article states that the control of the proliferation of estrogen target cells is regulated through two steps: the first involves a proliferative event in which estrogens cancel the inhibition exerted by a plasma-borne protein, and the second, an estrogen-induced proliferative shutoff 1. To study these estrogen-mediated events we developed a series of variants of the human breast MCF7 cell line. A first variant was selected by requiring the ancestral MCF7 cells to proliferate initially in Dulbecco's modified Eagle's phenol red-free medium supplemented with 5% charcoal-dextran stripped fetal calf serum; after 4 months, surviving cells were switched to 10% charcoal-dextran stripped human serum. Five months later, a stable cell line was characterized and cloned having a phenotype that allowed for maximal proliferation in charcoal-dextran stripped human serum-supplemented medium (CDHuS) to which no estradiol was added. Estradiol concentrations above 0.3 nM inhibited the proliferation of these cells; this effect was estrogen-specific. These cells are called E8CASS. A second variant derived from E8CASS cells was selected in 5% CDHuS supplemented with 0.3 nM estradiol; the proliferative pattern of these cells was comparable to that of the ancestral MCF7 cells. These revertant cells are called A2E8CASS. All variants and the ancestral MCF7 cells have functional estrogen receptors, as evidenced by the estrogen-induced expression of a pS2-CAT reporter gene. In conclusion, the collected data are compatible with the idea that, in MCF7 breast cells, the estradiol-mediated proliferative component can be segregated from the inhibitory effect also generated by estradiol.
Breast Neoplasms↗
[Borderlines types of multiple sclerosis].
Multiple sclerosis (MS) has been described for more than a century, but its cause remains unknown. Numerous reports have been written concerning borderline types of the disease. In the present paper we present the pseudo-tumoral variants of MS (so called Balo's, Marburg's and Schilder's forms), demographic variants (young and elderly onset of MS), related disorders (neuromyelitis optica and acute demyelinating encephalomyelitis). We also discuss the differential diagnosis with other auto-immune diseases.
Acute Disease↗
The evaluation of 15q proximal duplications by FISH.
Six patients from the clinical cytogenetics laboratory identified as having the normal variant dup(15)(q12) were further evaluated using fluorescence in situ hybridization (FISH). The purpose of this study was to ascertain whether any of the Prader Willi Angelman Chromosome Region (PWCR and ANCR, respectively) loci were duplicated in these patients. The results indicated that the patients could be categorized into two groups. The first group showed no duplication of the PWCR ANCR loci and appeared to belong to the dup(15)(q12) class which is phenotypically silent and is therefore called the normal variant. The second group also showed no duplication of the PWCR/ANCR loci. but had a large alpha satellite variant with D15Z. It is hypothesized that these patients do not have a duplication of 15q12 but rather a centromeric variant which mimics the dup(15)(q12). This study confirms the importance of evaluating apparent variations in the proximal region of chromosome 15 with FISH.
Angelman Syndrome↗
Transcortin Leuven: a variant of human corticosteroid-binding globulin with decreased cortisol-binding affinity.
Genetic variation of human transcortin was investigated on neuraminidase-treated plasma samples by polyacrylamide gel isoelectric focusing followed by immunofixation of transcortin on cellulose-acetate strips. This procedure was applied systematically to 500 plasma samples obtained from individuals of Caucasian origin. Most samples showed one band focusing at pH 5.52. In three unrelated samples, a two-band pattern was obtained consisting of the normal band (pI 5.52) and a cathodic band of equal color intensity (pI 5.60). Family studies showed that this transcortin variant, which we call transcortin Leuven, is autosomally inherited. In a family of Polish origin two individuals homozygous for transcortin Leuven were found. A striking feature of transcortin Leuven is that it has a 2.6-fold reduced affinity for cortisol at 4 degrees C and a 3.6-fold reduced affinity at 28 degrees C. This lowered affinity is due to an enhanced dissociation rate of the transcortin-cortisol complex. As for normal asialotranscortin, a cortisol-induced charge difference of 0.15 pH unit was observed for this variant.
Female↗
Expression of human choriogonadotropin-like material correlates with metastatic phenotype of R3230 AC rat adenocarcinoma.
Human choriogonadotropin (hCG)-like material has been found in variable amounts on the surface of cells of human and animal tumors. Intravenous injection of R3230 AC rat adenocarcinoma cells, one of the models investigated, results in multiple lung foci seeding. We analyzed the phenotypic diversity of this tumor by cloning and culturing two distinct cell subpopulations from a cell culture of this tumor, hereafter called OR or original cell culture. One was obtained after repeated exposure of the OR to increasing concentrations of concanavalin A and wheat germ agglutinin. A single clone was isolated and was named lectin-resistant (LR) cell line. The LR cells did not metastasize but maintained stable tumorigenicity and morphology over at least 10 passages. A second cell line was obtained by repeated passage and injection of cells from a single metastatic node. After repeating the process five times, a single clone of cells was selected from the final variant and was called lung metastatic (LM) cell line. The LM cultured cells maintained stable tumorigenicity, morphology, and metastatic properties for no more than 10 passages. OR, LR, and LM cells were assessed by their doubling time (DT), chromosome counts, and hCG immunocytochemistry. The results demonstrated that the LM cell line had a higher chromosome count than the LR and the OR cell lines, and its DT was the shortest. Immunocytochemistry of the transplanted OR neoplasm showed scattered expression of the hCG-like material. By the same techniques a complete lack of reactivity of the LR cells was found. However, almost all cells of the LM line were strongly positive for hCG-like material. After a few passages, the great majority of the LM cells also became unreactive. Our data demonstrate: (i) the existence of marked heterogeneity of the expression of hCG-like material in the primary tumor cell population; (ii) that the expression of hCG-like material correlates with the metastasizing capacity of the cells; and (iii) that there is a phenotypic instability for the expression of hCG-like material by tumor cells when maintained in vitro.
Adenocarcinoma↗
Differential neonatal imprinting and regulation by estrogen of estrogen receptor subtypes alpha and beta and of the truncated estrogen receptor product (TERP-1) mRNA expression in the male rat pituitary.
Two distinct nuclear estrogen receptors (ERs) have been identified, the classical one, renamed ERalpha, and the more recently cloned ERbeta. In a variety of tissues, gene expression of both receptor subtypes results in the generation of multiple transcripts encoding the full-length as well as several alternately spliced isoforms. In the rat pituitary, a truncated, tissue-specific variant of ERalpha, called TERP-1, has been identified and found able to modulate ERalpha and ERbeta activity. So far, its pattern of expression and hormonal regulation have been mostly studied in females. The present study was designed to analyze the pattern of expression of TERP-1 mRNA in the male rat pituitary at different stages of postnatal development, and to evaluate the impact of neonatal imprinting and estrogen treatment upon TERP-1 expression in the male pituitary. Assessment of TERP-1 mRNA levels by semi-quantitative RT-PCR, using a variant-specific primer pair, revealed that TERP-1 is also expressed in the male rat pituitary. Relative mRNA expression levels changed markedly during postnatal development, with moderate expression of the TERP-1 transcript at birth, barely detectable levels during the infantile-prepubertal period, and maximal values in adulthood. Expression of TERP-1 was sensitive to neonatal estrogen exposure, which resulted in a significant, persistent increase in mRNA levels from the infantile period until puberty. This phenomenon was not mimicked by neonatal blockade of endogenous GnRH. In addition, estrogen was able to acutely up-regulate pituitary TERP-1 mRNA expression levels in prepubertal (30-day-old) and adult (75-day-old) males. Interestingly, neonatal imprinting as well as acute estrogen treatment resulted in opposite effects on TERP-1 and full-length ERalpha and ERbeta transcripts, the latter being decreased under both conditions. In conclusion, our data indicate that TERP-1 mRNA is expressed in a developmentally regulated manner in the male rat pituitary, and is affected by neonatal estrogen imprinting and acute estrogen treatment. Regulation of TERP-1 expression by neonatal or acute estrogen treatment may thus represent an additional tuning mechanism for estrogen actions in the male rat pituitary.
Aging↗
Identification of estrogen receptor beta2, a functional variant of estrogen receptor beta expressed in normal rat tissues.
The effects of estrogen and estrogen agonists can be mediated by estrogen receptor alpha (ER alpha) and estrogen receptor beta (ER beta). We now report the identification and initial characterization of several novel isoforms of rat ER beta messenger RNA (mRNA). The most abundant of these mRNA variants we have called ER beta2. ER beta2 had an in-frame insertion of 54 nucleotides that resulted in the predicted insertion of 18 amino acids within the ligand binding domain. We demonstrated by semiquantitative RT-PCR and RNase protection that ER beta2 mRNA was expressed at levels equal to those of the previously published ER beta (ER beta1) in ovary, prostate, pituitary, and muscle. In tissues of the nervous system, including frontal cortex, hippocampus, and hypothalamus, ER beta1 was present in a 2- to 6-fold greater abundance than ER beta2. We have also detected variants of both ER beta1 and ER beta2 mRNAs that contained deletions of 117 bp encompassing the region encoding the second zinc finger of the DNA binding domain. All four mRNA species were efficiently translated into functional protein in a heterologous system. ER beta2 bound estradiol with a lower affinity (Kd 5.1 nM) than either ER alpha (0.19 nM) or ER beta1 (0.14 nM). The binding of ER beta2 was selective in that cortisol, testosterone, aldosterone, and progesterone among other agents did not compete for estradiol binding. However, a variety of known estrogenic agents, including physiological estrogens (estrone and estriol), plant and environmental estrogens (genistein, coumestrol, bisphenol A, methoxychlor), and pharmocological agents (tamoxifen, 4-hydroxytamoxifen) did effectively compete for estradiol binding to both ER beta1 and ER beta2. Interestingly, the binding pharmacology differed among the agents tested. For example, genistein competed effectively for estradiol binding to ER beta1 but was > 150-fold weaker at competing from ER beta2. In contrast, 4-hydroxytamoxifen competed equally well at both receptors. We have also demonstrated by a gel shift assay that both ER beta1 and ER beta2 bound specifically to DNA containing a consensus estrogen response element. ER beta1 and ER beta2 could heterodimerize with each other and with ER alpha. Both ER beta1 and ER beta2 activated transcription in response to estradiol, however, ER beta2 required a 1000-fold greater estradiol concentration for activity than did ER beta1. Cotransfection of ER beta2 had no effect on ER beta1 activation when used in a equal ratio. A 10-fold excess of ER beta2 did raise the half-maximal dose of estradiol required for transcriptional activation, whereas the maximal level of induction did not change. The ER beta complementary DNAs deleted within the DNA binding domain could not bind to DNA or activate transcription from this reporter in the cell backgrounds tested. In conclusion, although the physiological significance of these ER beta variants warrants further investigation, ER beta2 mRNA encodes a specific, functional receptor for estradiol and estrogenic agents. We propose that ER beta2 should also be considered in addition to ER beta1 and ER alpha when describing the effects of estrogen, estrogen agonists/antagonists, or environmental estrogens.
Amino Acid Sequence↗