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At least 235 records · Page 13Linked to original sources
PubMed1995

Endometrial stromal sarcoma with clonal chromosomal aberrations and mixed phenotype.

We report a case of a moderate-grade endometrial stromal sarcoma with the following chromosomal complement based on the evaluation of 43 metaphases: 47,XX,der(3)t(3;6)(q29;p21.1),der(6) t(3;6)(q21;q27), + 19. Immunohistochemically, the paraffin-embedded tumor tissue displayed positive vimentin reactivity and lack of cytokeratin expression, indicating a mesenchymal origin. Interestingly, the cultivated tumor cells revealed a co-expression of vimentin and different subtypes of cytokeratin. Therefore, the cytogenetically monoclonal tumor cells which showed co-expression of epithelial and mesenchymal phenotypes suggest that the endometrial stromal sarcoma can be interpreted as a monophasic variant of the malignant mixed Müllerian tumor.

Aged↗
PubMed1998

A new variant translocation of t(15;17) in a patient with acute promyelocytic leukemia (M3): t(15;19;17)(q22;p13;q12).

The reciprocal translocation (15;17) is specifically associated with acute promyelocytic leukemia [APL; M3 subtype according to French-American-British (FAB) classification]. A few patients with this disease have complex variant translocations. We describe a patient with M3 carrying t(15;19;17)(q22;p13;q12), which is a new type of variant translocation. The karyotypic interpretation was confirmed by Southern blot analysis with the use of RAR alpha and by fluorescence in situ hybridization (FISH) with the use of painting probes of chromosomes 15, 17, and 19 and a (15;17) translocation DNA probe. The results support the idea that the key event in APL is the formation of fusion gene PML/RAR alpha on the der(15).

Adolescent↗
PubMed2003

On high- and low-affinity agonist sites in GABAA receptors.

GABAA receptors are activated via low-affinity binding sites for the agonists GABA or muscimol. Evidence has been provided that the amino acid residue alpha 1F64 located at the beta2(+)/alpha1(-) subunit interface forms part of this binding site. In radioactive ligand binding studies the agonist [3H]muscimol has been found to interact with the receptor via a high-affinity binding site. This site has been interpreted as a conformational variant of the low-affinity site. Alternatively, the high-affinity binding site has been located to the alpha1(+)/beta2(-) interface and the homologous residue to alpha 1F64, beta 2Y62 has been proposed to constitute an important part of this site. Here we investigated the effect of the point mutation alpha 1F64L and the homologous mutation beta 2Y62L on agonist and antagonist binding and functional properties in alpha 1 beta 2 gamma 2 GABAA receptors. While the mutation in the alpha1 subunit had drastic consequences on all studied properties, including desensitization, the mutation in the beta2 subunit had little consequence. Our observations are relevant for the relative location of high- and low-affinity agonist sites in GABAA receptors.

Animals↗
PubMed1993

An historical note on pyoderma faciale.

Pyoderma faciale is a rare disorder, recently interpreted as a maximal variant of rosacea in women, with a sudden onset. A survey of the history of pyoderma faciale is presented.

Facial Dermatoses↗
PubMed1991

Intra-abdominal neuroectodermal tumour of childhood with divergent differentiation.

Two cases are reported of intra-abdominal small cell tumours expressing concomitant neural and epithelial differentiation. These features were discernible on conventional microscopy and supported immunocytochemically. Immunoreactive vimentin was also revealed in both tumours, and, in addition, one showed focal desmin positivity. Epithelial differentiation in both tumours was confirmed ultrastructurally. The tumours were interpreted to represent a variant of peripheral primitive neuroectodermal tumour, and the report serves to emphasize a potential among such tumours for complex differentiation. The neoplasms are compared with other similar tumours reported recently in children.

Abdominal Neoplasms↗
PubMed1978

Ichthyosis vulgaris showing features of the autosomal dominant and X-linked recessive variants in the same family.

A family in which the mother and six of her sons present an ichthyosis of the vulgaris type has been analysed clinically, histologically and electron microscopically. Phenotypically the ichthyosis in the mother is purely of the dominant type, while that in all the affected sons shows, to varying degrees, features of both the dominant and X-linked recessive variants. The findings are interpreted as reasonably good evidence that the mother has transmitted to all her affected sons both the autosomal dominant and the X-linked recessive genes for ichthyosis. Although genetically this is a most unusual situation, it corresponds best to our findings.

Adolescent↗
PubMed1969

Electrophoretic variants of phosphoglucomutase in Saccharomyces species.

Strains of Saccharomyces cerevisiae and species with which S. cerevisiae is interfertile display a characteristic pattern of electrophoretic variants of phosphoglucomutase (PGM) consisting of a major component and one or two minor components, all of which migrate toward the cathode. The patterns are consistent with an earlier finding that two unlinked genes, one of which has two known alleles, determine the synthesis of PGM in S. cerevisiae. The PGM patterns of strains of S. fragilis, S. lactis, and S. marxianus, species thought to be closely related to each other and only distantly related to S. cerevisiae, also displayed a characteristic pattern of PGM variants, but it was quite different from that of S. cerevisiae. In these species five or six electrophoretic variants could be detected, all of which migrated toward the anode. We interpret the differences in the PGM variants of the two groups of species as a reflection of differences in genetic composition which have arisen in two phylogenetically distinct groups that have become sexually isolated from each other.

Alleles↗
PubMed1994

Post-anoxic theta and alpha pattern coma.

Theta pattern coma is a rare EEG finding, described in the course of post-anoxic or post-traumatic coma and interpreted as a "malignant" variant of alpha pattern coma. A case of isolated theta pattern coma, followed by alpha pattern coma is reported. Short temporal succession of such patterns would seem to confirm the hypothesis of a close relationship between them. Possible physiological mechanisms involved in the generation of the patterns are discussed.

Alpha Rhythm↗
PubMed1976

Freeze-fracture studies of frog atrial fibres.

The freeze-fracturing technique was used to characterize the junctional devices involved in the electrical coupling of frog atrial fibres. These fibres are connected by a type of junction which can be interpreted as a morphological variant of the "gap junction" or "nexus". The most characteristic features are rows of 9-nm junctional particles forming single or anastomosed circular profiles on the inner membrane face, and corresponding pits on the outer membrane face. Very seldom aggregates consisting of few geometrically disposed 9-nm particles are found. The significance of the junctional structures in the atrial fibres is discussed, with respect to present knowledge about junctional features of gap junctions in various tissues, including embryonic ones.

Animals↗
PubMed2001

Mixed germ cell tumor in the eye of a dog.

A 3-year-old female neutered Staffordshire Bull Terrier presented with a mixed germ cell tumor involving the base of the iris and the ciliary body of the right eye. The tumor mass was composed primarily of packeted vacuolated, polygonal (hepatoid) cells and small round cells; epithelial cells lining tubuloacinar structures were a less prominent component. The hepatoid and round cells stained positively for alpha-fetoprotein and cytokeratin. The epithelial cells stained positively for cytokeratin only, and some contained cytoplasmic mucin droplets. The polygonal cells were interpreted as a hepatoid variant of yolk sac tumor, and the epithelial cells were considered a teratomatous component. Trabeculae of bone were observed within the mass and may have been metaplastic or a teratomatous element. Extragonadal germ cell tumors are rare in dogs and have previously been reported only in the suprasellar region. This is the first report of this tumor type in the eye of a nonhuman species.

Animals↗
PubMed1999

Activity losses among T4 lysozyme charge variants after adsorption to colloidal silica.

Enzyme structure and function depend to some extent on enzyme net charge and charge location. Altering the charge of even a single residue may affect the interaction between enzyme and substrate such that all catalytic activity is lost. In this study we investigated the effect of net charge and charge location on the enzymatic activity of synthetic mutants of bacteriophage T4 lysozyme in the presence of colloidal silica. Enzymatic activity decreased upon adsorption, and these changes were variant-specific. Results were interpreted with reference to differences in adsorbed enzyme structure and orientation, and electrostatic effects. By exploring the effects of enzyme charge on adsorption, it may be possible to gain a better understanding of how enzyme structure influences adsorption and function at an interface.

Adsorption↗
PubMed2004

Polymorphisms of CYP1A1 and glutathione S-transferase and susceptibility to adult acute myeloid leukemia.

BACKGROUND AND OBJECTIVES: The origin of acute myeloid leukemia (AML) may be explained by a combination of genetic susceptibility factors and environmental exposure. We studied the polymorphisms of cytochrome P450 CYP1A1 and glutathione S-transferase (GST), enzymes involved in the metabolism of carcinogens and anti-cancer drugs, as risk factors for adult AML. DESIGN AND METHODS: The prevalence of CYP1A1*2A, *2B and *4 alleles and of GSTM1 and GSTT1 homozygous deletions was examined in 193 patients with AML and 273 normal individuals using polymerase chain reaction (PCR)-based methods. RESULTS: A higher prevalence of the CYP1A1*4 allele was found in AML patients than in controls (19.1% vs 9.9%, OR =2.2, 95% C.I. 1.3-3.7, p=0.006). GSTT1 homozygous deletions were also more frequent in AML patients (29% vs 19%, OR = 1.7, 95% CI 1.1-2.7, p=0.02). The combination of GSTT1 null genotype and CYP1A1 *2B and *4 alleles further increased the risk of AML (OR =10.2, 95% CI 1.2-83.9, p=0.01, and OR =7.0, 95% CI 2.0-24.8, p=0.001, respectively). INTERPRETATION AND CONCLUSIONS: Polymorphic variants in xenobiotic-metabolism genes, including CYP1A1 and GSTT1, may increase the risk of adult AML, particularly when present together.

Acute Disease↗
PubMed1990

Hepatic lipofuscinosis in healthy Norwegian sheep.

Sheep livers with environmental pigmentation were examined histochemically and by electron microscopy. The pigment granules in hepatocytes and Kupffer cells had abundant lipid droplets; they were interpreted as being a variant of lipofuscins. It is concluded that the presently used descriptive term for the condition, "perilobular liver melanosis" should be replaced by the expression "liver lipofuscinosis".

Animals↗
PubMed1978

[Malignant carcinoid that developed against a background of chronic gastric ulcer].

A description of malignant carcinoid of alveolartrabecular structure developing in the edge of chronic progressive gastric ulcer is presented. Granules detectable by argirophilic method of Grimelius, toluidine blue after acid hydrolysis, and lead hemotoxylin were found in the cytoplasm of tumor cells. Changes in the epithelium of the type of cancer in situ as well as marked hyperplasia of argirophilic cells were observed in gastric mucosa in the edges of the ulcer. Although this observation may be interpreted as a peculiar variant of Zollinger-Ellison syndrome, it is more likely that this is a malignized chronic ulcer with carcinoid differentiation of the tumor tissue.

Carcinoid Tumor↗
PubMed1995

Malignant lesions of the female genital tract and peritoneum that may be underdiagnosed.

Female genital tract neoplasms that may have a deceptively benign appearance and selected frankly malignant neoplasms that may be misinterpreted as less aggressive lesions are reviewed. In the uterine cervix, the two major neoplasms in this group are the minimal deviation adenocarcinomas of mucinous and endometrioid types. The latter subtype has only recently been described. Endometrioid adenocarcinomas, usually of the uterine corpus, but occasionally of other sites, may have microglandular patterns that can lead to their misdiagnosis, sometimes as microglandular hyperplasia. Pure squamous cell carcinomas of the uterine corpus frequently are composed of very well differentiated epithelium, so that it is possible to misinterpret them as nonneoplastic, and a similar phenomenon may occur in association with the squamous element in some adenocarcinomas with squamous differentiation. Other uterine entities that may be underdiagnosed are malignant lymphoma of the cervix, placental site trophoblastic tumor, myxoid leiomyosarcoma, endometrial stromal sarcoma with glandular differentiation, and mullerian adenosarcoma. Consideration of a variety of architectural and cytological features should facilitate their interpretation. One recently described variant of adenocarcinoma of the fallopian tube that may be confused with the usually clinically benign female adnexal tumors of probable Wolffian origin is microfollicular endometrioid adenocarcinoma. Ovarian tumors subject to misinterpretation that are reviewed herein include metastatic tumors with deceptively benign foci, endometrioid adenocarcinomas that may be misdiagnosed as sex cord tumors, and cystic granulosa cell tumors that may be misinterpreted as follicle cysts. Finally, rare variants of malignant mesothelioma that may be underdiagnosed are reviewed.

Adenocarcinoma↗
PubMed1995

Pathologic considerations of uterine smooth muscle tumors.

Smooth muscle tumors are the most common type of uterine neoplasm. The vast majority of such tumors are benign leiomyomas. Leiomyosarcomas fortunately are relatively infrequent. A variety of gross and microscopic features may be found in both benign and malignant tumors and great care must be taken not to mistake leiomyomas with atypical or unusual features of leiomyosarcomas. Individual features, such as hypercellularity, necrosis, nuclear atypia, mitotic figures, and intravascular growth, are ominous but must be interpreted with caution because variants of benign leiomyoma may contain such changes.

Adult↗