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  1. Article ; Online: Physiological COX-2 expression in breast epithelium associates with COX-2 levels in ductal carcinoma in situ and invasive breast cancer in young women.

    Fornetti, Jaime / Jindal, Sonali / Middleton, Kara A / Borges, Virginia F / Schedin, Pepper

    The American journal of pathology

    2014  Volume 184, Issue 4, Page(s) 1219–1229

    Abstract: Cyclooxygenase-2 (COX-2) overexpression is implicated in increased risk and poorer outcomes in breast cancer in young women. We investigated COX-2 regulation in normal premenopausal breast tissue and its relationship to malignancy in young women. ... ...

    Abstract Cyclooxygenase-2 (COX-2) overexpression is implicated in increased risk and poorer outcomes in breast cancer in young women. We investigated COX-2 regulation in normal premenopausal breast tissue and its relationship to malignancy in young women. Quantitative COX-2 immunohistochemistry was performed on adjacent normal and breast cancer tissues from 96 premenopausal women with known clinical reproductive histories, and on rat mammary glands with distinct ovarian hormone exposures. COX-2 expression in the normal breast epithelium varied more than 40-fold between women and was associated with COX-2 expression levels in ductal carcinoma in situ and invasive cancer. Normal breast COX-2 expression was independent of known breast cancer prognostic indicators, including tumor stage and clinical subtype, indicating that factors regulating physiological COX-2 expression may be the primary drivers of COX-2 expression in breast cancer. Ovarian hormones, particularly at pregnancy levels, were identified as modulators of COX-2 in normal mammary epithelium. However, serial breast biopsy analysis in nonpregnant premenopausal women suggested relatively stable baseline levels of COX-2 expression, which persisted independent of menstrual cycling. These data provide impetus to investigate how baseline COX-2 expression is regulated in premenopausal breast tissue because COX-2 levels in normal breast epithelium may prove to be an indicator of breast cancer risk in young women, and predict the chemopreventive and therapeutic efficacy of COX-2 inhibitors in this population.
    MeSH term(s) Adult ; Animals ; Biomarkers, Tumor/analysis ; Breast Neoplasms/enzymology ; Breast Neoplasms/pathology ; Carcinoma, Ductal, Breast/enzymology ; Carcinoma, Ductal, Breast/pathology ; Carcinoma, Intraductal, Noninfiltrating/enzymology ; Carcinoma, Intraductal, Noninfiltrating/pathology ; Cyclooxygenase 2/biosynthesis ; Female ; Humans ; Immunoblotting ; Immunohistochemistry ; Middle Aged ; Rats ; Rats, Sprague-Dawley ; Young Adult
    Chemical Substances Biomarkers, Tumor ; Cyclooxygenase 2 (EC 1.14.99.1)
    Language English
    Publishing date 2014-02-08
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 2943-9
    ISSN 1525-2191 ; 0002-9440
    ISSN (online) 1525-2191
    ISSN 0002-9440
    DOI 10.1016/j.ajpath.2013.12.026
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ud II Zs.76: Show issues Location:
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    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: Evaluation of vitamin D repletion regimens to correct vitamin D status in adults.

    Pepper, Kara J / Judd, Suzanne E / Nanes, Mark S / Tangpricha, Vin

    Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists

    2008  Volume 15, Issue 2, Page(s) 95–103

    Abstract: Objective: To determine the efficacy and safety of commonly prescribed regimens for the treatment of vitamin D insufficiency.: Methods: We performed a retrospective analysis of 306 consecutive patients who were prescribed ergocalciferol (vitamin D2) ... ...

    Abstract Objective: To determine the efficacy and safety of commonly prescribed regimens for the treatment of vitamin D insufficiency.
    Methods: We performed a retrospective analysis of 306 consecutive patients who were prescribed ergocalciferol (vitamin D2) for correction of vitamin D insufficiency at the Atlanta Veterans Affairs Medical Center between February 2003 and May 2006. Serum levels of parathyroid hormone, 25-hydroxyvitamin D (25-OHD), and calcium were compared before and after treatment with ergocalciferol. Patients who did not have a 25-OHD determination (n = 41) were excluded from analysis. Vitamin D deficiency, insufficiency, and sufficiency were defined as a serum 25-OHD level of <20 ng/mL, 21 to 29 ng/mL, and > or =30 ng/mL, respectively.
    Results: We identified 36 discrete prescribing regimens. The 3 most common regimens were ergocalciferol 50,000 IU once weekly for 4 weeks followed by 50,000 IU once monthly for 5 months (n = 48); ergocalciferol 50,000 IU once monthly for 6 months (n = 80); and ergocalciferol 50,000 IU 3 times weekly for 6 weeks (n = 27). Each of these 3 treatments significantly increased serum 25-OHD (P<.01), but vitamin D sufficiency was achieved in only 38%, 42%, and 82% of study subjects, respectively. Regimens with >600,000 IU of ergocalciferol given for a mean of 60 +/- 40 days achieved sufficiency in 64% of cases, without vitamin D toxicity.
    Conclusion: In this study, regimens that contained at least 600,000 IU of ergocalciferol appeared to be the most effective in achieving vitamin D sufficiency. Guidelines for the treatment of vitamin D insufficiency in healthy adults should be developed.
    MeSH term(s) Aged ; Drug Administration Schedule ; Ergocalciferols/administration & dosage ; Ergocalciferols/therapeutic use ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Treatment Outcome ; Vitamin D/analogs & derivatives ; Vitamin D/blood ; Vitamin D Deficiency/blood ; Vitamin D Deficiency/drug therapy
    Chemical Substances Ergocalciferols ; Vitamin D (1406-16-2) ; 25-hydroxyvitamin D (A288AR3C9H)
    Language English
    Publishing date 2008-11-17
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 1473503-9
    ISSN 1934-2403 ; 1530-891X
    ISSN (online) 1934-2403
    ISSN 1530-891X
    DOI 10.4158/EP.15.2.95
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5034: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 508: Show issues

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  3. Article ; Online: Renal cell carcinoma presenting with paraneoplastic hypercalcemic coma: a case report and review of the literature.

    Pepper, Kara / Jaowattana, Uraporn / Starsiak, Michael D / Halkar, Raghuueer / Hornaman, Kelly / Wang, Wenli / Dayamani, Priya / Tangpricha, Vin

    Journal of general internal medicine

    2007  Volume 22, Issue 7, Page(s) 1042–1046

    Abstract: We report a case of a 62-year-old woman with renal cell carcinoma (RCC) presenting with a hypercalcemia-induced coma. A laboratory evaluation indicated nonparathyroid-mediated hypercalcemia with an initial serum calcium level of 18.6 mg/dL. Our patient's ...

    Abstract We report a case of a 62-year-old woman with renal cell carcinoma (RCC) presenting with a hypercalcemia-induced coma. A laboratory evaluation indicated nonparathyroid-mediated hypercalcemia with an initial serum calcium level of 18.6 mg/dL. Our patient's parathyroid hormone (PTH)-related peptide level was undetectable. Initial imaging was negative, but PET scan identified a mass in the upper pole of the left kidney. Our patient underwent partial nephrectomy, and the mass was identified as RCC on final pathology. After surgery, her hypercalcemia resolved and PTH returned to normal limits. This case report describes a patient with RCC with the unusual presentation of hypercalcemic coma. We review the differential diagnosis of malignant hypercalcemia and the evaluation of hypercalcemia occurring with RCC. This case illustrates the need to carefully review and interpret all available data, especially when conventional testing in the work-up of hypercalcemia is unrevealing.
    MeSH term(s) Carcinoma, Renal Cell/complications ; Carcinoma, Renal Cell/diagnosis ; Coma/etiology ; Diagnosis, Differential ; Female ; Humans ; Hypercalcemia/complications ; Hypercalcemia/etiology ; Interleukin-6/blood ; Kidney Neoplasms/complications ; Kidney Neoplasms/diagnosis ; Middle Aged ; Parathyroid Hormone/blood ; Receptor, Parathyroid Hormone, Type 1/blood
    Chemical Substances Interleukin-6 ; PTH1R protein, human ; Parathyroid Hormone ; Receptor, Parathyroid Hormone, Type 1
    Language English
    Publishing date 2007-07
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Review
    ZDB-ID 639008-0
    ISSN 1525-1497 ; 0884-8734
    ISSN (online) 1525-1497
    ISSN 0884-8734
    DOI 10.1007/s11606-007-0189-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2205: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article ; Online: Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

    Gillentine, Madelyn A / Wang, Tianyun / Hoekzema, Kendra / Rosenfeld, Jill / Liu, Pengfei / Guo, Hui / Kim, Chang N / De Vries, Bert B A / Vissers, Lisenka E L M / Nordenskjold, Magnus / Kvarnung, Malin / Lindstrand, Anna / Nordgren, Ann / Gecz, Jozef / Iascone, Maria / Cereda, Anna / Scatigno, Agnese / Maitz, Silvia / Zanni, Ginevra /
    Bertini, Enrico / Zweier, Christiane / Schuhmann, Sarah / Wiesener, Antje / Pepper, Micah / Panjwani, Heena / Torti, Erin / Abid, Farida / Anselm, Irina / Srivastava, Siddharth / Atwal, Paldeep / Bacino, Carlos A / Bhat, Gifty / Cobian, Katherine / Bird, Lynne M / Friedman, Jennifer / Wright, Meredith S / Callewaert, Bert / Petit, Florence / Mathieu, Sophie / Afenjar, Alexandra / Christensen, Celenie K / White, Kerry M / Elpeleg, Orly / Berger, Itai / Espineli, Edward J / Fagerberg, Christina / Brasch-Andersen, Charlotte / Hansen, Lars Kjærsgaard / Feyma, Timothy / Hughes, Susan / Thiffault, Isabelle / Sullivan, Bonnie / Yan, Shuang / Keller, Kory / Keren, Boris / Mignot, Cyril / Kooy, Frank / Meuwissen, Marije / Basinger, Alice / Kukolich, Mary / Philips, Meredith / Ortega, Lucia / Drummond-Borg, Margaret / Lauridsen, Mathilde / Sorensen, Kristina / Lehman, Anna / Lopez-Rangel, Elena / Levy, Paul / Lessel, Davor / Lotze, Timothy / Madan-Khetarpal, Suneeta / Sebastian, Jessica / Vento, Jodie / Vats, Divya / Benman, L Manace / Mckee, Shane / Mirzaa, Ghayda M / Muss, Candace / Pappas, John / Peeters, Hilde / Romano, Corrado / Elia, Maurizio / Galesi, Ornella / Simon, Marleen E H / van Gassen, Koen L I / Simpson, Kara / Stratton, Robert / Syed, Sabeen / Thevenon, Julien / Palafoll, Irene Valenzuela / Vitobello, Antonio / Bournez, Marie / Faivre, Laurence / Xia, Kun / Earl, Rachel K / Nowakowski, Tomasz / Bernier, Raphael A / Eichler, Evan E

    Genome medicine

    2021  Volume 13, Issue 1, Page(s) 63

    Abstract: Background: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with ... ...

    Abstract Background: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations.
    Methods: We tested our hypothesis by considering gene families that have multiple members with an enrichment of de novo variants among NDDs, as determined by previous meta-analyses. One of these gene families is the heterogeneous nuclear ribonucleoproteins (hnRNPs), which has 33 members, five of which have been recently identified as NDD genes (HNRNPK, HNRNPU, HNRNPH1, HNRNPH2, and HNRNPR) and two of which have significant enrichment in our previous meta-analysis of probands with NDDs (HNRNPU and SYNCRIP). Utilizing protein homology, mutation analyses, gene expression analyses, and phenotypic characterization, we provide evidence for variation in 12 HNRNP genes as candidates for NDDs. Seven are potentially novel while the remaining genes in the family likely do not significantly contribute to NDD risk.
    Results: We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants. Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations. Comparison of HNRNP gene expression shows a pattern consistent with a role in cerebral cortical development with enriched expression among radial glial progenitors. Clinical assessment of probands (n = 188-221) expands the phenotypes associated with HNRNP rare variants, and phenotypes associated with variation in the HNRNP genes distinguishes them as a subgroup of NDDs.
    Conclusions: Overall, our novel approach of exploiting gene families in NDDs identifies new HNRNP-related disorders, expands the phenotypes of known HNRNP-related disorders, strongly implicates disruption of the hnRNPs as a whole in NDDs, and supports that NDD subtypes likely have shared molecular pathogenesis. To date, this is the first study to identify novel genetic disorders based on the presence of disorders in related genes. We also perform the first phenotypic analyses focusing on related genes. Finally, we show that radial glial expression of these genes is likely critical during neurodevelopment. This is important for diagnostics, as well as developing strategies to best study these genes for the development of therapeutics.
    MeSH term(s) Brain/metabolism ; DNA Copy Number Variations/genetics ; Gene Expression Regulation ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetic Variation ; Heterogeneous-Nuclear Ribonucleoproteins/genetics ; Heterogeneous-Nuclear Ribonucleoproteins/metabolism ; Humans ; Inheritance Patterns/genetics ; Mutation/genetics ; Mutation, Missense/genetics ; Neurodevelopmental Disorders/genetics ; Phenotype ; RNA Processing, Post-Transcriptional/genetics ; Single-Cell Analysis
    Chemical Substances Heterogeneous-Nuclear Ribonucleoproteins
    Language English
    Publishing date 2021-04-19
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2484394-5
    ISSN 1756-994X ; 1756-994X
    ISSN (online) 1756-994X
    ISSN 1756-994X
    DOI 10.1186/s13073-021-00870-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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