196 research outputs found

    Receptor tyrosine kinase and p16/CDKN2 expression in a case of tripe palms associated with non-small-cell lung cancer

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    Background: Tripe palms is a descriptive term for a cutaneous paraneoplastic keratoderma. Tripe palms are frequently associated with gastric and pulmonary carcinoma. The pathogenetic mechanism remains unknown. Objective: To determine the influence of receptor tyrosine kinases, which are both expressed in pulmonary carcinomas and in human skin, we performed expression studies on epidermal growth factor receptor (EGFR), HER2, HERS in a skin sample of tripe palms obtained from a patient with non-small-cell lung cancer with lymph node involvement. Two months after diagnosis, the patient had developed palmoplantar `tripe palms'. Additionally, the expression of SRC, c-myc and p16/CDKN2 were studied. Method: Conventional reverse-transcription polymerase chain reaction was performed on a tissue sample of tripe palms. Results: Weak expression of HER2 and of p16/CDKN2 was found. EGFR, HERS, c-myc and SRC were not expressed. Conclusion: Receptor tyrosine kinases of subclass I, the tyrosine kinase SRC and the oncogene c-myc play no major role in the pathogenesis of this case of tripe palms. Copyright (C) 2000 S. Karger AG. Basel

    Extra c-myc oncogene copies in high risk cutaneous malignant melanoma and melanoma metastases

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    Amplification and overexpression of the c-myc gene have been associated with neoplastic transformation in a plethora of malignant tumours. We applied interphase fluorescence in situ hybridization (FISH) with a locus-specific probe for the c-myc gene (8q24) in combination with a corresponding chromosome 8 α-satellite probe to evaluate genetic alterations in 8 primary melanomas and 33 advanced melanomas and compared it to 12 melanocytic nevi, 7 safety margins and 2 cases of normal skin. Additionally, in metaphase spreads of 7 melanoma cell lines a whole chromosome 8 paint probe was used. We investigated the functionality of the c-myc gene by detecting c-myc RNA expression with RT-PCR and c-myc protein by immunohistochemistry. 4/8 primary melanomas and 11/33 melanoma metastases showed additional c-myc signals relative to the centromere of chromosome 8 copy number. None of the nevi, safety margins or normal skin samples demonstrated this gain. In 2/7 melanoma cell lines (C32 and WM 266–4) isochromosome 8q formation with a relative gain of c-myc copies and a loss of 8p was observed. The highest c-myc gene expression compared to GAPDH was found in melanoma metastases (17.5%). Nevi (6.6%) and primary melanomas (5.0%) expressed the c-myc gene on a lower level. 72.7% of the patients with c-myc extra copies had visceral melanoma metastases (UICC IV), patients without c-myc gain in 35.0% only. The collective with additional c-myc copies also expressed the gene on a significantly higher level. These results indicate that a c-myc gain in relation to the centromere 8 copy number might be associated with advanced cutaneous melanoma. © 2001 Cancer Research Campaign http://www.bjcancer.co

    The Effects of Changes in Physical Fitness on Academic Performance Among New York City Youth

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    To evaluate whether a change in fitness is associated with academic outcomes in New York City (NYC) middle school students using longitudinal data, and to evaluate whether this relationship is modified by student household poverty

    Myocardial ischemia with left ventricular outflow obstruction

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    We report an unusual case of a 32-year old man who was treated for a hypertrophic obstructive cardiomyopathy (HOCM) with a DDD pacing with short AV delay reduction in the past. Without prior notice the patient developed ventricular fibrillation and an invasive cardiac diagnostic was performed, which revealed a myocardial bridging around of the left anterior descending artery (LAD). We suspected ischemia that could be either related to LAD artery compression or perfusion abnormalities due to AV delay reduction with related to diastolic dysfunction

    Lack of Association between Genetic Polymorphisms in Enzymes Associated with Folate Metabolism and Unexplained Reduced Sperm Counts

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    BACKGROUND: The metabolic pathway of folate is thought to influence DNA stability either by inducing single/double stranded breaks or by producing low levels of S-adenosyl-methionine leading to abnormal gene expression and chromosome segregation. Polymorphisms in the genes encoding enzymes in the folate metabolism pathway show distinct geographic and/or ethnic variations and in some cases have been linked to disease. Notably, the gene Methylenetetrahydrofolate reductase (MTHFR) in which the homozygous (TT) state of the polymorphism c.665C>T (p.A222V) is associated with reduced specific activity and increased thermolability of the enzyme causing mild hyperhomocysteinemia. Recently several studies have suggested that men carrying this polymorphism may be at increased risk to develop infertility. METHODOLOGY/PRINCIPAL FINDINGS: We have tested this hypothesis in a case/control study of ethnic French individuals. We examined the incidence of polymorphisms in the genes MTHFR (R68Q, A222V and E429A), Methionine synthase reductase MTRR; (I22M and S175L) and Cystathionine beta-synthase (CBS; G307S). The case population consisted of DNA samples from men with unexplained azoospermia (n = 70) or oligozoospermia (n = 182) and the control population consisted of normospermic and fertile men (n = 114). We found no evidence of an association between the incidence of any of these variants and reduced sperm counts. In addition haplotype analysis did not reveal differences between the case and control populations. CONCLUSIONS/SIGNIFICANCE: We could find no evidence for an association between reduced sperm counts and polymorphisms in enzymes involved in folate metabolism in the French population

    Identification of Multiple HPV Types on Spermatozoa from Human Sperm Donors

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    Human papillomaviruses (HPV) may cause sexually transmitted disease. High-risk types of HPV are involved in the development of cervical cell dysplasia, whereas low-risk types may cause genital condyloma. Despite the association between HPV and cancer, donor sperm need not be tested for HPV according to European regulations. Consequently, the potential health risk of HPV transmission by donor bank sperm has not been elucidated, nor is it known how HPV is associated with sperm. The presence of 35 types of HPV was examined on DNA from semen samples of 188 Danish sperm donors using a sensitive HPV array. To examine whether HPV was associated with the sperm, in situ hybridization were performed with HPV-6, HPV-16 and -18, and HPV-31-specific probes. The prevalence of HPV-positive sperm donors was 16.0% and in 66.7% of these individuals high-risk types of HPV were detected. In 5.3% of sperm donors, two or more HPV types were detected. Among all identified HPV types, 61.9% were high-risk types. In situ hybridization experiments identified HPV genomes particularly protruding from the equatorial segment and the tail of the sperm. Semen samples from more than one in seven healthy Danish donors contain HPV, most of them of high-risk types binding to the equatorial segment of the sperm cell. Most HPV-positive sperm showed decreased staining with DAPI, indicative of reduced content of DNA. Our data demonstrate that oncogenic HPV types are frequent in men

    All Effects of Psychophysical Variables on Color Attributes: A Classification System

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    This paper reports the research and structuring of a classification system for the effects of psychophysical variables on the color attributes. A basic role of color science is to psychophysically specify color appearance. An early stage is to specify the effects of the psychophysical variables (as singles, pairs, etc) on the color attributes (as singles, pairs, etc), for example to model color appearance. Current data on effects are often scarce or conflicting. Few effects are well understood, and the practice of naming effects after their discoverer(s) is inadequate and can be confusing. The number and types of possible effects have never been systematically analyzed and categorized. We propose a simple and rigorous system of classification including nomenclature. The total range of effects is computed from the possible combinations of three psychophysical variables (luminance, dominant wavelength, purity) and six color attributes (lightness, brightness, hue, chroma, colorfulness, saturation) in all modes of appearance. Omitting those effects that are normally impossible to perceive at any one time (such as four- or five-dimensional colors), the total number perceivable is 161 types of effects for all modes of appearance. The type of effect is named after the psychophysical stimulus (or stimuli) and the relevant color attribute(s), e.g., Luminance-on-hue effect (traditionally known as Bezold-Brucke effect). Each type of effect may include slightly different effects with infinite variations depending on experimental parameters.M. Melgosa was supported by the Ministry of Economy and Competitiveness of the Government of Spain, research project FIS2013-40661-P, with the European Research Development Fund

    Strong Association of 677 C>T Substitution in the MTHFR Gene with Male Infertility - A Study on an Indian Population and a Meta-Analysis

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    Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme of folate and methionine metabolism, making it crucial for DNA synthesis and methylation. The objective of this study was to analyze MTHFR gene 677C>T polymorphism in infertile male individuals from North India, followed by a meta-analysis on our data and published studies.We undertook genotyping on a total of 837 individuals including well characterized infertile (N = 522) and confirmed fertile (N = 315) individuals. The SNP was typed by direct DNA sequencing. Chi square test was done for statistical analysis. Published studies were searched using appropriate keywords. Source of data collection for meta-analysis included 'Pubmed', 'Ovid' and 'Google Scholar'. Those studies analyzing 677C>T polymorphism in male infertility and presenting all relevant data were included in meta-analysis. The genotype data for infertile subjects and fertile controls was extracted from each study. Chi square test was done to obtain odds ratio (OR) and p-value. Meta-analysis was performed using Comprehensive Meta-analysis software (Version 2). The frequency of mutant (T) allele (p = 0.0025) and genotypes (CT+TT) (p = 0.0187) was significantly higher in infertile individuals in comparison to fertile controls in our case-control study. The overall summary estimate (OR) for allele and genotype meta-analysis were 1.304 (p = 0.000), 1.310 (p = 0.000), respectively, establishing significant association of 677C>T polymorphism with male infertility.677C>T substitution associated strongly with male infertility in Indian population. Allele and genotype meta-analysis also supported its strong correlation with male infertility, thus establishing it as a risk factor

    Frequency of Chlamydia trachomatis in Ureaplasma-positive healthy women attending their first prenatal visit in a community hospital in Sapporo, Japan

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    <p>Abstract</p> <p>Background</p> <p>Although <it>Chlamydia trachomatis </it>is the most commonly reported pathogen that causes urogenital infection such as urethritis or cervicitis, <it>Ureaplasma parvum </it>and <it>Ureaplasma urealyticum</it>, which are commensals in the genital tract, have also now been recognized as contributors to urogenital infection. However, whether the presence of either <it>U. parvum </it>or <it>U. urealyticum </it>is related to that of <it>C. trachomatis </it>in the urogenital tract remains unknown. We therefore attempted to estimate by PCR the prevalence of <it>C. trachomatis, U. parvum </it>and <it>U. urealyticum </it>in endocervical samples obtained from healthy women attending their first prenatal visit in Sapporo, Japan.</p> <p>Methods</p> <p>The samples were taken from 303 apparently healthy women, and the extracted DNAs (<it>n </it>= 280) were used for PCR detection targeting <it>C. trachomatis, U. parvum </it>and <it>U. urealyticum</it>. Statistical analysis of the data was performed by Fisher's exact test.</p> <p>Results</p> <p>PCR detection revealed that the prevalence of <it>C. trachomatis, U. parvum </it>and <it>U. urealyticum </it>was 14.3% (40/280), 41.7% (117/280) and 8.9% (25/280), respectively. <it>C. trachomatis ompA </it>genotype D was most frequently identified. Surprisingly, either <it>C. trachomatis </it>or <it>Ureaplasma </it>spp. was detected in almost half of the healthy women. Mixed infection of <it>C. trachomatis </it>with either <it>U. parvum </it>or <it>U. urealyticum </it>was also observed in 9.2% (26/280) of the women. There was a significant association between <it>C. trachomatis </it>and either <it>U. parvum </it>(<it>p </it>= 0.023) or <it>Ureaplasma </it>total (<it>p </it>= 0.013), but not <it>U. urealyticum </it>(<it>p </it>= 0.275).</p> <p>Conclusion</p> <p>This study demonstrated that the presence of <it>Ureaplasma </it>had a significant effect on the presence of <it>C. trachomatis </it>in the genital tract of healthy women, suggesting that mixed infection is an important factor in bacterial pathogenesis in the genital tract.</p
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