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36 results on '"Chiauzzi, Violeta A."'

1. Correction: Halting ErbB-2 isoforms retrograde transport to the nucleus as a new theragnostic approach for triple-negative breast cancer

Author

Madera, Santiago, Izzo, Franco, Chervo, María F., Dupont, Agustina, Chiauzzi, Violeta A., Bruni, Sofia, Petrillo, Ezequiel, Merin, Sharon S., De Martino, Mara, Montero, Diego, Levit, Claudio, Lebersztein, Gabriel, Anfuso, Fabiana, Roldán Deamicis, Agustina, Mercogliano, María F., Proietti, Cecilia J., Schillaci, Roxana, Elizalde, Patricia V., and Cordo Russo, Rosalía I.

Published
2023
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2. Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

Author

Portnoi, Marie-France, Dumargne, Marie-Charlotte, Rojo, Sandra, Witchel, Selma F, Duncan, Andrew J, Eozenou, Caroline, Bignon-Topalovic, Joelle, Yatsenko, Svetlana A, Rajkovic, Aleksandar, Reyes-Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot-Bastaraud, Sandra, Hyon, Capucine, Louis-Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin-Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo H, Dain, Liliana, Chiauzzi, Violeta A, Mazen, Inas, Rouba, Hassan, Schluth-Bolard, Caroline, MacGowan, Stuart, McLean, WH Irwin, Patin, Etienne, Meyts, Ewa Rajpert-De, Jauch, Ralf, Achermann, John C, Siffroi, Jean-Pierre, McElreavey, Ken, and Bashamboo, Anu

Subjects
Rare Diseases, Contraception/Reproduction, Infertility, Clinical Research, Genetics, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, 46, XX Disorders of Sex Development, Adolescent, Child, Disorder of Sex Development, 46, XY, Female, Humans, Male, Mutation, Missense, Oligospermia, Primary Ovarian Insufficiency, SOXE Transcription Factors, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown. Here, we show that SOX8 is expressed in the somatic cells of the early developing gonad in the human and influences human sex determination. We identified two individuals with 46, XY disorders/differences in sex development (DSD) and chromosomal rearrangements encompassing the SOX8 locus and a third individual with 46, XY DSD and a missense mutation in the HMG-box of SOX8. In vitro functional assays indicate that this mutation alters the biological activity of the protein. As an emerging body of evidence suggests that DSDs and infertility can have common etiologies, we also analysed SOX8 in a cohort of infertile men (n = 274) and two independent cohorts of women with primary ovarian insufficiency (POI; n = 153 and n = 104). SOX8 mutations were found at increased frequency in oligozoospermic men (3.5%; P

Published
2018

3. Halting ErbB-2 isoforms retrograde transport to the nucleus as a new theragnostic approach for triple-negative breast cancer

Author

Madera, Santiago, Izzo, Franco, Chervo, María F., Dupont, Agustina, Chiauzzi, Violeta A., Bruni, Sofia, Petrillo, Ezequiel, Merin, Sharon S., De Martino, Mara, Montero, Diego, Levit, Claudio, Lebersztein, Gabriel, Anfuso, Fabiana, Roldán Deamicis, Agustina, Mercogliano, María F., Proietti, Cecilia J., Schillaci, Roxana, Elizalde, Patricia V., and Cordo Russo, Rosalía I.

Published
2022
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4. Nuclear PDCD4 Expression Defines a Subset of Luminal B-Like Breast Cancers with Good Prognosis

Author

Madera, Santiago, Chervo, María F., Chiauzzi, Violeta A., Pereyra, Matías G., Venturutti, Leandro, Izzo, Franco, Roldán Deamicis, Agustina, Guzman, Pablo, Dupont, Agustina, Roa, Juan Carlos, Cenciarini, Mauro E., Barchuk, Sabrina, Figurelli, Silvina, Lopez Della Vecchia, Daniel, Levit, Claudio, Lebersztein, Gabriel, Anfuso, Fabiana, Castiglioni, Teresa, Cortese, Eduardo, Ares, Sandra, Deza, Ernesto Gil, Gercovich, Felipe G., Proietti, Cecilia J., Schillaci, Roxana, Cordo Russo, Rosalía I., and Elizalde, Patricia V.

Published
2020
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5. Canonical ErbB-2 isoform and ErbB-2 variant c located in the nucleus drive triple negative breast cancer growth

Author

Chervo, María F., Cordo Russo, Rosalía I., Petrillo, Ezequiel, Izzo, Franco, De Martino, Mara, Bellora, Nicolás, Cenciarini, Mauro E., Chiauzzi, Violeta A., Santa María de la Parra, Lucía, Pereyra, Matías G., Güttlein, Leandro N., Podhajcer, Osvaldo L., Daniotti, José L., Dupont, Agustina, Barchuk, Sabrina, Figurelli, Silvina, Lopez Della Vecchia, Daniel, Roa, Juan C., Guzmán, Pablo, Proietti, Cecilia J., Schillaci, Roxana, and Elizalde, Patricia V.

Published
2020
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6. ODP551 Halting ErbB-2 Isoforms Retrograde Transport to the Nucleus as a New Theragnostic Approach for Triple Negative Breast Cancer

Author

Elizalde, Patricia Virginia, primary, Izzo, Franco, additional, Chervo, Maria Florencia, additional, Merin, Sharon Salma, additional, Dupont, Agustina, additional, Chiauzzi, Violeta, additional, Bruni, Sofia, additional, Petrillo, Ezequiel, additional, Montero, Diego, additional, Mercogliano, Maria Florencia, additional, Proietti, Cecilia Jazmin, additional, Schillaci, Roxana, additional, Madera, Santiago, additional, and Russo, Rosalia Ines Cordo, additional

Published
2022
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7. ODP571 Blockade of ErbB-2 Nuclear Function Induces the Interferon Signaling Pathway in Breast Cancer Models Resistant to Trastuzumab

Author

Elizalde, Patricia V, primary, Cordo Russo, Rosalia, additional, Madera, Santiago, additional, Merin, Sharon S, additional, Chervo, María F, additional, Ebrahimie, Esmaeil, additional, Selth, Luke, additional, Chiauzzi, Violeta A, additional, Dupont, Agustina, additional, Barchuk, Sabrina, additional, Figurelli, Silvina, additional, Lopez Della Vecchia, Daniel, additional, Guzmán, Pablo, additional, Roa, Juan C, additional, Levit, Claudio, additional, Lebersztein, Gabriel, additional, Anfuso, Fabiana, additional, Proietti, Cecilia J, additional, Schillaci, Roxana, additional, Hickey, Theresa E, additional, Tilley, Wayne D, additional, and Elizalde, Patricia V, additional

Published
2022
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8. Abstract 344: Blockade of retrograde transport in triple negative breast cancer excludes ErbB-2 isoforms from the nucleus and abrogates tumor growth

Author

Madera, Santiago, primary, Izzo, Franco, additional, Chervo, Maria F., additional, Dupont, Agustina, additional, Chiauzzi, Violeta A., additional, Bruni, Sofia, additional, Petrillo, Ezequiel, additional, Montero, Diego, additional, Merin, Sharon, additional, Mercogliano, Maria F., additional, Proietti, Cecilia J., additional, Schillaci, Roxana, additional, Russo, Rosalia I. Cordo, additional, and Elizalde, Patricia V., additional

Published
2022
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9. Nuclear PDCD4 Expression Predicts Good Clinical Outcome in Luminal A-Like and Luminal B-Like Breast Cancer Subtypes

Author

Madera, Santiago, Chiauzzi, Violeta Alicia, Chervo, María Florencia, Pereyra, Matías G., Venturutti, Leandro, Roldán Deamicis, Agustina, Dupont, Agustina, Guzmán, Pablo, Roa, Juan Carlos, Cenciarini, Mauro Ezequiel, Barchuk, Sabrina, Figurelli, Silvina, Lopez Della Vecchia, Daniel Edgardo, Ares, Sandra, Proietti Anastasi, Cecilia Jazmín, Deza, Ernesto Gil, Gercovich, Felipe G, Schillaci, Roxana, Elizalde, Patricia Virginia, and Cordo Russo, Rosalia Ines

Subjects
BIOMARKER, Medicina Básica, CIENCIAS MÉDICAS Y DE LA SALUD, PDCD4, purl.org/becyt/ford/3 [https], purl.org/becyt/ford/3.1 [https], Bioquímica y Biología Molecular, CANCER
Abstract

Hormone receptor-positive (HR+, estrogen and/or progesterone receptor-positive) and HER2-negative breast cancer (BC) subtype is a biologically heterogeneous entity that comprises 70% of BCs. This subtype includes both luminal (Lum) A- and B-like subtypes, which have differences in prognosis and sensitivity to endocrine therapies. The development of biomarkers guiding treatment decisions in these settings is required. Tumor suppressor PDCD4 (programmed cell death 4), which can be found both in the nucleus (NPDCD4) or the cytoplasm (CPDCD4), inhibits tumor growth and metastasis, and its loss is associated with poor prognosis in solid tumors. To explore the clinical relevance of PDCD4 in BC, we analyzed its expression by immunohistochemistry in a cohort of 619 patients with primary invasive BC. We found that 34.7% of patients showed NPDCD4 and 21.3% showed CPDCD4. NPDCD4 positivity, but not CPDCD4, was associated with lower clinical stage (P = 0.0003), with presence of more differentiated tumors (P = 6.4x10-6), and with estrogen and progesterone receptor (PR) expression (P = 9.2x10-9 and P = 2.8x10-9, respectively). Kaplan-Meier analysis revealed that NPDCD4 expression was associated with a longer overall survival (OS) and disease-free survival (DFS) in LumA-like (P = 0.008 and P = 0.028, respectively) and LumB-like (P = 0.004 and P = 0.012, respectively) subtypes. Interestingly, patients with LumB-like tumors displaying NPDCD4 presented estimated OS and DFS rates similar to the ones observed in patients with LumA-like tumors also expressing NPDCD4, indicating that its presence improves the clinical outcome of LumB-like patients. Multivariate Cox regression analysis identified NPDCD4 as an independent predictor of good clinical outcome in both LumA-like (HR: 0.45, 95% CI 0.22-0.96, P = 0.038) and LumB-like (HR: 0.28, 95% CI 0.10-0.80, P = 0.018) subtypes. We validated our results by in silico analysis using expression data from the METABRIC cohort. Bioinformatics analysis of BC cells from the Cancer Cell Line Encyclopedia revealed a positive correlation between PDCD4 and PR expression (P = 0.015). Since LumB-like tumors present a higher risk of resistance to endocrine therapy and both PR and PDCD4 levels in this subtype are lower than in the LumA-like one, we postulated that the presence of PR may modulate PDCD4 expression. Silencing of PR expression in HR+ cells decreased PDCD4 protein levels while reconstitution of PR in a PR-null cell line increased them, confirming PR requirement for PDCD4 modulation. In line with PDCD4 physiological function, its knockdown increased cell migration capability of HR+ BC cells, whereas its restoration led to a decrease in cell migration of HR-negative BC models. Our findings identified NPDCD4 positivity as a novel biomarker of clinical outcome in LumA- and B-like subtypes and revealed PDCD4 reconstitution as a novel therapeutic strategy in BC. Fil: Madera, Santiago. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Chiauzzi, Violeta Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Chervo, María Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Pereyra, Matías G.. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Venturutti, Leandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Roldán Deamicis, Agustina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Dupont, Agustina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Guzmán, Pablo. Universidad de La Frontera. Núcleo Científico y Tecnológico en Recursos Naturales; Chile Fil: Roa, Juan Carlos. Universidad de La Frontera. Núcleo Científico y Tecnológico en Recursos Naturales; Chile Fil: Cenciarini, Mauro Ezequiel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Barchuk, Sabrina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Juan A. Fernández"; Argentina Fil: Figurelli, Silvina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Juan A. Fernández"; Argentina Fil: Lopez Della Vecchia, Daniel Edgardo. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Juan A. Fernández"; Argentina Fil: Ares, Sandra. Instituto Oncológico “Henry Moore”; Argentina Fil: Proietti Anastasi, Cecilia Jazmín. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Deza, Ernesto Gil. Instituto Oncológico “Henry Moore”; Argentina Fil: Gercovich, Felipe G. Instituto Oncológico “Henry Moore”; Argentina Fil: Schillaci, Roxana. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Elizalde, Patricia Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Cordo Russo, Rosalia Ines. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina

Published
2020
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10. Halting Retrograde Transport Excludes ErbB-2 From the Nucleus Abrogating Tumor Growth in Triple Negative Breast Cancer

Author

Madera, Santiago, primary, Izzo, Franco, additional, Chervo, María Florencia, additional, Dupont, Agustina, additional, Chiauzzi, Violeta Alicia, additional, Montero, Diego, additional, Deamicis, Agustina Roldán, additional, Proietti, Cecilia Jazmín, additional, Schillaci, Roxana, additional, Elizalde, Patricia Virginia, additional, and Russo, Rosalia Ines Cordo, additional

Published
2021
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11. Nuclear ErbB-2-Induced Transcriptome Drives Triple Negative Breast Cancer Growth

Author

Chervo, Maria F, primary, Parra, Micaela, additional, Bellora, Nicolas, additional, Petrillo, Ezequiel, additional, Madera, Santiago, additional, Deamicis, Agustina Roldan, additional, Mitsuya, Kohzoh, additional, Chiauzzi, Violeta A, additional, Proietti, Cecilia J, additional, Schillaci, Roxana, additional, Huang, Tim H-M, additional, Russo, Rosalia I Cordo, additional, and Elizalde, Patricia V, additional

Published
2021
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12. SUN-122 Nuclear PDCD4 Expression Predicts Good Clinical Outcome in Luminal A-Like and Luminal B-Like Breast Cancer Subtypes

Author

Madera, Santiago, primary, Chiauzzi, Violeta A, primary, Chervo, María F, primary, Pereyra, Matías G, primary, Venturutti, Leandro, primary, Deamicis, Agustina Roldán, primary, Dupont, Agustina, primary, Guzmán, Pablo, primary, Roa, Juan C, primary, Cenciarini, Mauro E, primary, Barchuk, Sabrina, primary, Figurelli, Silvina, primary, Vecchia, Daniel Lopez Della, primary, Ares, Sandra, primary, Proietti, Cecilia J, primary, Deza, Ernesto Gil, primary, Gercovich, Felipe G, primary, Schillaci, Roxana, primary, Elizalde, Patricia V, primary, and Cordo Russo, Rosalia I, primary

Published
2020
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18. Nuclear ErbB-2 activity modulates the interferon signaling pathway in breast cancer cells resistant to anti-ErbB-2 therapies

Author

Russo, Rosalia I Cordo, primary, Madera, Santiago, additional, Chervo, Maria F, additional, Ebrahimie, Esmaeil, additional, Selth, Luke, additional, Chiauzzi, Violeta A, additional, Kikhtyak, Zoya, additional, Proietti, Cecilia J, additional, Schillaci, Roxana, additional, Charreau, Eduardo H, additional, Hickey, Theresa E, additional, Tilley, Wayne D, additional, and Elizalde, Patricia V, additional

Published
2019
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19. Distribution of FMR1 and FMR2 repeats in 2 Argentinean patients with primary ovarian 3 insufficiency

Author

Espeche, Lucía Daniela, Chiauzzi, Violeta Alicia, Ferder, Ianina Claudia, Arrar, Mehrnoosh, Solari, Andrea Paula, Bruque, Carlos David, Delea, Marisol, Belli, Susana, Fernández, Cecilia Soledad, Buzzalino, Noemí Delia, Charreau, Eduardo Hernan, and Dain, Liliana Beatriz

Subjects
CIENCIAS MÉDICAS Y DE LA SALUD, FMR2, Otras Ciencias Biológicas, Patología, purl.org/becyt/ford/3.1 [https], PRIMARY OVARIAN INSUFFICIENCY, Ciencias Biológicas, purl.org/becyt/ford/1 [https], Medicina Básica, purl.org/becyt/ford/3 [https], purl.org/becyt/ford/1.6 [https], FMR1, CIENCIAS NATURALES Y EXACTAS, FXPOI
Abstract

The premutation state of FMR1 has been associated with Fragile X-related Premature Ovarian 29 Failure (POI) and is the most common known genetic cause for 46,XX patients. Nevertheless, very 30 few studies analyzed its frequency in Latin American populations. Additionally, a relationship 31 between alleles carrying a cryptic microdeletion in the 5?UTR of FMR2 and the onset of POI has only 32 been studied in one population. 33Our aim was to analyze the incidence of FMR1 premutations and putative microdeletions in 34 exon 1 of FMR2 in a cohort of Argentinean women with POI. We studied 133 patients and 84 35 controls. Fluorescent PCR was performed and the FMR2 exon 1 was further sequenced in samples 36 presenting less than 11 repeats. We found the frequency of FMR1 permutations to be 6.7% and 37 2.9% for familial and sporadic patients, respectively. Among controls , 1/84 women presented a 38 premutation. In addition, although we did not find microdeletions in FMR2 , we observed a change 39 (T>C) adjacent to the repeats in two sisters with POI. Given the repetitive nature of the sequence 40 involved, we could not ascertain whether this represents a SNP or a deletion. Therefore, a 41 relationship between FMR2 and POI could not be established for our population. Fil: Espeche, Lucía Daniela. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; Argentina Fil: Chiauzzi, Violeta Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Ferder, Ianina Claudia. Massachusetts General Hospital; . Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Arrar, Mehrnoosh. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Química, Física de los Materiales, Medioambiente y Energía. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Química, Física de los Materiales, Medioambiente y Energía; Argentina Fil: Solari, Andrea Paula. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; Argentina Fil: Bruque, Carlos David. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; Argentina Fil: Delea, Marisol. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; Argentina Fil: Belli, Susana. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Oncología ; Argentina Fil: Fernández, Cecilia Soledad. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Buzzalino, Noemí Delia. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; Argentina Fil: Charreau, Eduardo Hernan. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Dain, Liliana Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; Argentina

Published
2017

20. Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency

Author

Espeche, Lucía, primary, Chiauzzi, Violeta, additional, Ferder, Ianina, additional, Arrar, Mehrnoosh, additional, Solari, Andrea, additional, Bruque, Carlos, additional, Delea, Marisol, additional, Belli, Susana, additional, Fernández, Cecilia, additional, Buzzalino, Noemí, additional, Charreau, Eduardo, additional, and Dain, Liliana, additional

Published
2017
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21. Falla ovárica precoz: Laboratorio

Author

Chiauzzi, Violeta Alicia

Subjects
Ciencias Biológicas, purl.org/becyt/ford/1 [https], FISIOPATOLOGÍA, ANTICUERPOS, Métodos de Investigación en Bioquímica, FOP, FOP AUTOINMUNE, ETIOLOGÍA, purl.org/becyt/ford/1.6 [https], CIENCIAS NATURALES Y EXACTAS
Abstract

La falla ovárica prematura (FOP) es una patología que afecta al 1% de las mujeres en edad fértil y al 0,1% enmujeres menores de 30 añosy que se caracteriza por presentar amenorrea primaria o secundaria antes de los 40 años, hipoestrogenismo e hipergonadotrofismo, con distintos grados de atresia folicular. Cabe aclarar que algunos autores no incluyen las pacientes con amenorrea primaria, por considerar que no se podría hablar de una falla Ovárica cuando dicha función no estaba presente. Fil: Chiauzzi, Violeta Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina

Published
2012

22. Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarian failure (POF) development

Author

Sundblad, Victoria, Chiauzzi, Violeta Alicia, Andreone, Luz, Campo, Stella Maris, Charreau, Eduardo Hernan, and Dain, Liliana Beatriz

Subjects
Medicina Básica, CIENCIAS MÉDICAS Y DE LA SALUD, FSH receptor, Obstetricia y Ginecología, Medicina Clínica, premature ovarian failure, Bioquímica y Biología Molecular
Abstract

Although the impact of polymorphisms 919A>G and 2039A>G of FSHR gene in normal ovarian function is almost clear, in Premature Ovarian Failure (POF) it still remains elusive. To analyse the putative association of these polymorphisms with POF development, 97 POF patients and 72 women over 40 years of age with normal menstrual record were genotyped for 919A>G and 2039A>G variants. No association was found between genotype GG of each polymorphism and the risk of POF. Nevertheless, ten POF patients and only one control presented the less common combinations 919G-2039A and 919A-2039G (p

Published
2010

23. Breast cyst fluids increase proliferation of breast cell lines in correlation with their content of hormones and growth factors

Author

Enriori, Pablo J., Vázquez, Stella Maris, Chiauzzi, Violeta Alicia, Perez, Cecilia, Fischer, Carlos R., Gori, Jorge R., Etkin, Alberto E., Charreau, Eduardo Hernan, Calandra, Ricardo Saul, and Luthy, Isabel Alicia

Subjects
Medicina Básica, CIENCIAS MÉDICAS Y DE LA SALUD, BODY FLUIDS, CELL PROLIFERATION, CELL LINE, INSULIN LIKE GROWTH, GROWTH HORMONE, Bioquímica y Biología Molecular, BREAST CYST
Abstract

Gross cystic disease (GCD) of the breast is reported to occur in 7% of women in the developed world and, although not premalignant, is thought to be associated with an increased risk of breast cancer. Hormone and growth factor concentration levels were measured in breast cyst fluid (BCF) to correlate them with their mitogenic activity in tumour (MCF-7) or nontransformed (MCF-10A) cells. Fil: Enriori, Pablo J.. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Vázquez, Stella Maris. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Chiauzzi, Violeta Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Perez, Cecilia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Fischer, Carlos R.. Hospital Aleman; Argentina Fil: Gori, Jorge R.. Hospital Alemán; Argentina Fil: Etkin, Alberto E.. Gobierno de la Ciudad de Buenos Aires. ospital General de Agudos "Carlos G. Durand"; Argentina Fil: Charreau, Eduardo Hernan. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Calandra, Ricardo Saul. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Exactas; Argentina Fil: Luthy, Isabel Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina

Published
2006

24. Circulating immunoglobulins that inhibit the binding of follicle-stimulating hormone to itsreceptor: a putative diagnostic role in resistant ovary syndrome?

Author

Chiauzzi, Violeta Alicia, Bussmann, Leonardo Edmundo, and Calvo, Juan Carlos

Subjects
Ciencias Biológicas, FSHR, SOR, POF, Biología Reproductiva, CIENCIAS NATURALES Y EXACTAS
Abstract

To evaluate the presence of circulating immunoglobulins that inhibit FSH binding to its receptor (Ig-FSHR) in patients with premature ovarian failure (POF). Non-randomized study. Blood sampling for determination of circulating immunoglobulins. Fil: Chiauzzi, Violeta Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Bussmann, Leonardo Edmundo. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Calvo, Juan Carlos. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina

Published
2004

27. Development of the gonadotrophic resistant ovary syndrome in myasthenia gravis: suggestion of similar autoimmune mechanisms

Author

Escobar, María Eugenia, Cigorraga, Selva B., Chiauzzi, Violeta A., Charreau, Eduardo H., and Rivarola, Marco A.

Abstract

A woman with myasthenia gravis who developed hypergonadotrophic amenorrhoea was studied. This patient fulfilled all accepted criteria for the diagnosis of the gonadotrophin resistant ovary syndrome: high levels of serum LH and FSH by radioimmunoassay and urinary gonadotrophin excretion by bioassay, low serum oestradiol, lack of response to exogenous gonadotrophin and ovaries with multiple non-stimulated primordial follicles.The serum of this patient contained a substance which behaving like a gamma globulin, inhibited FSH specific binding to receptors in an in vitro system. This inhibitor was looked for in further patients with hypergonadotrophic amenorrhoea, other immunological diseases or myasthenia gravis with normal menses. Ovarian biopsy was not available in these patients. In all except one who also had the association of myasthenia gravis and hypergonadotrophic amenorrhoea, the inhibitor was not detected.It is suggested that development of antibodies directed against gonadotrophin receptors or a receptor related membrane domain may play a role in the mechanism of failure of gonadotrophin stimulation in some patients with the gonadotrophin resistant ovary syndrome.

Published
1982
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28. Effects of Androgen Treatment of the Neonate on Rat Testis and Sex Accessory Organs

Author

Barañao, José Lino S., Chemes, Héctor E., Tesone, Marta, Chiauzzi, Violeta A., Scacchi, Pablo, Calvo, Juan C., Faigon, María R., Moguilevsky, Jaime A., Charreau, Eduardo H., and Calandra, Ricardo S.

Abstract

Testosterone metabolism, androgen receptors, and the androgen binding protein (ABP) were studied in male albino rats injected with 1 mg of testosterone propionate (TP) on Day 2 of life. The epididymal content of ABP was diminished in immature but not in adult animals treated neonatally with androgen. No changes were detected in the testicular levels of this protein in 27-day-old rats. In adult animals atrophic lesions were seen in 3% of the seminiferous tubules. Androgen treatment of neonates led to a substantial decrease in the 5α-reductase activity in homogenates of prostate gland and epididymis from adult rats with a concomitant decline in the 3α-β-hydroxysteroid dehydrogenase activities in both tissues. These animals did not show any change in the number of available or total androgen receptor sites as measured by incubating prostatic cytosol with [3H]R1881. The present findings suggest that the impaired development of the male genital tract could be partially due to a diminished peripheral conversion of testosterone to its active, 5α-reduced metabolites.

Published
1981
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36. Controversial role of inhibin alpha-subunit gene in the aetiology of premature ovarian failure.

Author

Sundblad V, Chiauzzi VA, Andreone L, Campo S, Charreau EH, and Dain L

Subjects
Argentina, Cohort Studies, Female, Gene Frequency, Heterozygote, Humans, Risk, Inhibins blood, Inhibins genetics, Polymorphism, Genetic, Primary Ovarian Insufficiency genetics
Abstract

Background: Premature ovarian failure (POF) is characterized by hypergonadotropic amenorrhoea before the age of 40. Inhibin alpha-subunit (INHalpha) gene is proposed as a candidate gene due to its role in negative feedback control of FSH., Methods: Polymorphism -16C>T of INHalpha gene was studied in 61 POF patients and 82 controls above 40 years old (C > 40). Substitution 769G>A was studied in 59 POF patients, 76 C > 40 and 73 controls below 40 years old (C < 40)., Results: No significant difference in risk of POF development for -16T allele was found when comparing idiopathic POF (I-POF) with C > 40 (Odds ratio = 1.46; 95% confidence interval = 0.63-3.19). Implication of -16C>T polymorphism in serum inhibin levels was analysed in 46 controls, and no significant differences (P > 0.05) were found between CC and CT + TT genotype groups when comparing either mid-follicular phase Pro-alphaC and inhibin B values or mid-luteal phase Pro-alphaC and inhibin A values. Heterozygosity for substitution 769G>A was found in 1 of 59 POF woman, 2 of 76 C > 40 and 6 of 73 C < 40. Presence of this substitution in a relevant number of control subjects is herein described for the first time., Conclusion: Our results indicate that -16C>T and 769G>A variants in INHalpha gene may not be associated to POF disease.

Published
2006
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