Listado de Publicaciones Científicas del año 2021

List of Scientific Publications 2021

Gabriela P. Finkielstain, Ana Vieites, Ignacio Bergada, Rodolfo A. Rey. Disorders of Sex Development of Adrenal Origin. Front. Endocrinol. 12:770782.
⇒ https://doi.org/10.3389/fendo.2021.770782.

Rey RA. Herramientas clínicas en el diagnóstico del desarrollo sexual anómalo: ¿del análisis hormonal al análisis genético? (Editorial). Avances en Medicina de Laboratorio 2021.
⇒ https://doi.org/10.1515/almed-2021-0074.

Romina P. Grinspon. Genetics of congenital central hypogonadism. 
⇒ https://doi.org/10.1016/j.beem.2021.101599

Sofía Suco Valle, Patricia Papendieck, María Eugenia Masnata, Eugenia Elías, Lidia Torrado, Ignacio Bergadá, Ana Chiesa. Tiroiditis aguda supurativa: experiencia en un centro de Endocrinología Infantil de referencia. Acute suppurative thyroiditis: experience in a reference Child Endocrinology center. Rev. Hosp. Niños (B. Aires) 2021;63(281):74-80.

Salma R. Ali, Jillian Bryce, Houra Haghpanahan, James D. Lewsey, Li En Tan, Navoda Atapattu, Niels H.Birkebaek, Oliver Blankenstein, Uta Neumann, Antonio Balsamo, Rita Ortolano, Walter Bonfig, Hedi L. Claahsen-van der Grinten,Martine Cools, Eduardo Correa Costa, Feyza Darendeliler, Sukran Poyrazoglu, Heba Elsedfy, Martijn J.J Finken, Christa E. Fluck, Evelien Gevers, Márta Korbonits, Guilherme Guaragna-Filho, Tulay Guran, Ayla Guven, Sabine E. Hannema, Claire Higham, Ieuan A. Hughes, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Violeta Iotova, Nils P. Krone, Ruth Krone, Corina Lichiardopol, Andrea Luczay, Berenice B. Mendonca, Tania A.S.S. Bachega, Mirela C. Miranda, Tatjana Milenkovic, Klaus Mohnike, Anna Nordenstrom, Silvia Einaudi, Hetty van der Kamp, Ana Vieites, Liat de Vries, Richard J. M. Ross, S. Faisal Ahmed Real-World Estimates of Adrenal Insufficiency–Related Adverse Events in Children With Congenital Adrenal Hyperplasia, The Journal of Clinical Endocrinology & Metabolism, 2021, Vol. 106, No. 1, e192–e203

⇒ https://doi.org/10.1210/clinem/dgaa694

Romina P Grinspon, Sebastián Castro, Franco G Brunello, Gabriela Sansó, María Gabriela Ropelato, Rodolfo A Rey, Diagnosis of Male Central Hypogonadism During Childhood, Journal of the Endocrine Society, Volume 5, Issue 11, November 2021, bvab145

⇒ https://doi.org/10.1210/jendso/bvab145

Doris Hebenstreita, S. Faisal Ahmed, Nils Krone, Christoph Krall, Jillian Bryce, Sabah Alvi, Rita Ortolano, Mario Lima, Niels Birkebaek, Walter Bonfig, Hedi Claahsen van der Grinten, Eduardo Correa Costa, Sukran Poyrazoglu, Liat de Vries, Christa E. Flück, Tulay Guran, Fuat Bugrul, Ayla Güven, Violeta Iotova, Birgit Koehler, Jennyver-Tabea Schröder, Daniel Konrad, Evelien Gevers, Ruth Krone, Tatjana Milenkovic, Ana Vieites, Richard Ross, Rieko Tadokoro Cuccaro, Ieuan Hughes, Carlo Acerini, Alexander Springer. Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study. Sex Dev 2021;15:229–235

⇒ https://doi.org/10.1159/000517055
 

Franco G. Brunello, Rodolfo A. Rey. AMH and AMHR2 Involvement in Congenital Disorders of Sex Development. Review Article Sex Dev

⇒ https://doi.org/ 10.1159/000518273

Sabina Domené, Paula A. Scaglia, Mariana L. Gutiérrez and Horacio M. Domené. Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development. Cells 2021, 10, 2063.

⇒ https:// doi.org/10.3390/cells10082063.

Mirta Gryngarten, Haydeé Comar, Andrea Arcari, Elisabeth Boulgourdjian y María E. Escobar. Síndrome de McCune-Albright, una forma poco frecuente de pubertad precoz: diagnóstico, tratamiento y evolución. McCune-Albright syndrome, a rare form of precocious puberty: Diagnosis, treatment, and follow-up.  Arch Argent Pediatr 2021;119(5):e420-e427 / e420

Poloni, S., Dos Santos, B. B., Chiesa, A., Specola, N., Pereyra, M., Saborío-Rocafort, M., Salazar, M. F., Leal-Witt, M. J., Castro, G., Peñaloza, F., Wong, S. P., Porras, R. B., Paranza, L. O., Sanabria, M. C., Amieva, M. V., Morales, M., Naranjo, A., Mahfoud, A., Colmenares, A. R., Lemes, A., … Cornejo, V. (2021). Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey. Nutrients, 13(8), 2566.

⇒ https://doi.org/10.3390/nu13082566

Chiesa Ana E., Tellechea Mariana L. (2021). Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review. Front Endocrinol (Lausanne). 2021 Aug 18;12:643307. 

⇒ https://doi.org/10.3389/fendo.2021.643307

Rey R. A. (2021). Noncanonical Wnt signaling in the integrity of the blood-testis barrier and sperm release. Endocrinology, bqab159. Advance online publication.

⇒ https://doi.org/10.1210/endocr/bqab159

Stancampiano, M. R., Lucas-Herald, A. K., Bryce, J., Russo, G., Barera, G., Balsamo, A., Baronio, F., Bertelloni, S., Valiani, M., Cools, M., Tack, L., Darendeliler, F., Poyrazoglu, S., Globa, E., Grinspon, R., Hannema, S. E., Hughes, I. A., Tadokoro-Cuccaro, R., Thankamony, A., Iotova, V., … Ahmed, S. F. (2021). Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, 1–8. Advance online publication.

⇒ https://doi.org/10.1159/000516784

Freire, A. V., Ropelato, M. G., Papendieck, P., Vieites, A., Elías, E., Ballerini, M. G., Rodriguez, M. E., Bergadá, I., & Chiesa, A. (2021). Improving safety in pediatric thyroidectomy by PTH measurements. Clinical endocrinology, 10.1111/cen.14552. Advance online publication.

⇒ https://doi.org/10.1111/cen.14552

Blazquez, A. C., Berenstein, A. J., Torres, C., Izquierdo, A., Lezama, C., Moscatelli, G., De Matteo, E. N., Lorenzetti, M. A., & Preciado, M. V. (2021). Comprehensive Evolutionary Analysis of Complete Epstein-Barr Virus Genomes from Argentina and Other Geographies. Viruses, 13(6), 1172.

⇒ https://doi.org/10.3390/v13061172

Oud, M. S., Houston, B. J., Volozonoka, L., Mastrorosa, F. K., Holt, G. S., Alobaidi, B., deVries, P. F., Astuti, G., Ramos, L., Mclachlan, R. I., O'Bryan, M. K., Veltman, J. A., Chemes, H. E., & Sheth, H. (2021). Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders. Human reproduction (Oxford, England), deab099. Advance online publication.

⇒ https://doi.org/10.1093/humrep/deab099

Dimitri, P., Fernandez-Luque, L., Banerjee, I., Bergadá, I., Calliari, L. E., Dahlgren, J., de Arriba, A., Lapatto, R., Reinehr, T., Senniappan, S., Thomas-Teinturier, C., Tsai, M. C., Anuar Zaini, A., Bagha, M., & Koledova, E. (2021). An eHealth Framework for Managing Pediatric Growth Disorders and Growth Hormone Therapy. Journal of medical Internet research, 23(5), e27446.

⇒ https://doi.org/10.2196/27446

Angela K Lucas-Herald, Jillian Bryce, Andreas Kyriakou, Marie Lindhardt Ljubicic, Wiebke Arlt, Laura Audi, Antonio Balsamo, Federico Baronio, Silvano Bertelloni, Markus Bettendorf, Antonia Brooke, Hedi L Claahsen van der Grinten, Justin H Davies, Gloria Hermann, Liat de Vries, Ieuan A Hughes, Rieko Tadokoro-Cuccaro, Feyza Darendeliler, Sukran Poyrazoglu, Mona Ellaithi, Olcay Evliyaoglu, Simone Fica, Lavinia Nedelea, Aneta Gawlik, Evgenia Globa, Nataliya Zelinska, Tulay Guran, Ayla Güven, Sabine E Hannema, Olaf Hiort, Paul-Martin Holterhus, Violeta Iotova, Vilhelm Mladenov, Vandana Jain, Rajni Sharma, Farida Jennane, Colin Johnston, Gil Guerra Junior, Daniel Konrad, Odile Gaisl, Nils Krone, Ruth Krone, Katherine Lachlan, Dejun Li, Corina Lichiardopol,Lidka Lisa, Renata Markosyan, Inas Mazen, Klaus Mohnike, Marek Niedziela, Anna Nordenstrom,Rodolfo Rey, Mars Skaeil, Lloyd J W Tack, Jeremy Tomlinson, Naomi Weintrob, Martine Cools y S Faisal Ahmed. Gonadectomy in conditions affecting sex development: a registry-based cohort study. European Journal of Endocrinology (2021) 184, 791–801.

⇒ https://10.1530/EJE10.1530/EJE

María L. Pardo Campos, Rosa Enacan, Maria G. Valle, Ana Chiesa. Parenting Styles and Coping Strategies in PKU Early Detected Children. Journal of Inborn Errors of Metabolism & Screening 2021, Volume 9: e20200014.

⇒ https://doi.org/10.1590/2326-4594-jiems-2020-001478

Gorga Agostina, Rindone Gustavo Marcelo, Centola Cecilia Lucía, Sobarzo Cristian M., Pellizzari Eliana Herminia, Camberos María del Carmen, Marín-Briggiler Clara Isabel, Cohen Debora J., Riera Maria Fernanda, Galardo Maria Noel, Meroni Silvina Beatriz. Low Doses of Glyphosate/Roundup Alter Blood–Testis Barrier Integrity in Juvenile Rats. Frontiers in Endocrinology. 2021;12.

⇒ https://doi.org/10.3389/fendo.2021.615678

Vishnopolska, S. A., Mercogliano, M. F., Camilletti, M. A., Mortensen, A. H., Braslavsky, D., Keselman, A., Bergadá, I., Olivieri, F., Miranda, L., Marino, R., Ramírez, P., Pérez Garrido, N., Patiño Mejia, H., Ciaccio, M., Di Palma, M. I., Belgorosky, A., Martí, M. A., Kitzman, J. O., Camper, S. A., & Pérez-Millán, M. I. (2021). Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders. The Journal of clinical endocrinology and metabolism, 106(7), 1956–1976.

⇒ https://doi.org/10.1210/clinem/dgab177

Jerkovich, F., Nuñez, S., Mocarbel, Y., Pignatta, A., Elías, N., Cassinelli, H., Díaz, A. G., Vigovich, C., Balonga, M. C., Cohen, A. C., Mumbach, G., Gonzalez, S., Zanchetta, J. R., & Zanchetta, M. B. (2020). Burden of Disease in Patients With Tumor-Induced Osteomalacia. JBMR plus, 5(2), e10436.

⇒ https://doi.org/10.1002/jbm4.10436

Clément F, Grinspon RP, Yankelevich D, Martín Benítez S, De La Ossa Salgado MC, Ropelato MG, Ballerini MG, Keselman AC, Braslavsky D, Pennisi P, Bergadá I, Finkielstain GP, Rey RA. Development and Validation of a Prediction Rule for Growth Hormone Deficiency Without Need for Pharmacological Stimulation Tests in Children With Risk Factors. Front Endocrinol. 2021;11:624684

⇒ https://doi.org/10.3389/fendo.2020.624684

Marino, R., Garrido, N. P., Ramirez, P., Notaristéfano, G., Moresco, A., Touzon, M. S., Vaiani, E., Finkielstain, G., Obregón, M. G., Balbi, V., Soria, I., & Belgorosky, A. (2021). Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia. The Journal of clinical endocrinology and metabolism, 106(7), e2789–e2802.

⇒ https://doi.org/10.1210/clinem/dgab033

Bacila, I., Freeman, N., Daniel, E., Sandrk, M., Bryce, J., Ali, S. R., Yavas Abali, Z., Atapattu, N., Bachega, T. A., Balsamo, A., Birkebæk, N., Blankenstein, O., Bonfig, W., Cools, M., Costa, E. C., Darendeliler, F., Einaudi, S., Elsedfy, H. H., Finken, M., Gevers, E., … Krone, N. P. (2021). International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry. European journal of endocrinology, 184(4), 553–563.

⇒ https://doi.org/10.1530/EJE-20-1249

Castro, S., Velasco Suárez, C., Vieites, A., Bergadá, I., & Cassinelli, H. (2021). Raquitismo vinculado al uso de fórmulas elementales: Reporte de caso [Rickets associated to the use of elemental formula: A case report]. Archivos argentinos de pediatria, 119(1), e49–e53.

⇒ https://doi.org/10.5546/aap.2021.e49

Gantov, M., Pagnotta, P., Lotufo, C., Rindone, G. M., Riera, M. F., Calvo, J. C., & Toneatto, J. (2021). Beige adipocytes contribute to breast cancer progression. Oncology reports, 45(1), 317–328.

⇒ https://doi.org/10.3892/or.2020.7826

Raffo, D., Maglioco, A., & Fernandez Sasso, D. (2021). A protocol for umbilical cord tissue cryopreservation as a source of mesenchymal stem cells. Molecular biology reports, 48(2), 1559–1565.

⇒ https://doi.org/10.1007/s11033-020-06079-x

Correction: Molecular biology reports, 48(2), 2005. https://doi.org/10.1007/s11033-021-06206-2

Pio, M. G., Molina, M. F., Siffo, S., Chiesa, A., Rivolta, C. M., & Targovnik, H. M. (2021). A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis. Molecular and cellular endocrinology, 522, 111124.

⇒ https://doi.org/10.1016/j.mce.2020.111124

Rindone, G. M., Gorga, A., Pellizzari, E. H., Camberos, M., Galardo, M. N., Da Ros, V. G., Buffone, M. G., Meroni, S. B., & Riera, M. F. (2021). Postnatal metformin treatment alters rat Sertoli cell proliferation and daily sperm production. Andrology, 9(3), 965–976.

⇒ https://doi.org/10.1111/andr.12957

Rey, Rodolfo A. The Role of Androgen Signaling in Male Sexual Development at Puberty. Endocrinology vol. 162,2 (2021): bqaa215.

⇒ https://doi.org/10.1017/S2040174420000987

Carpaneto Freixas, A. E., Moglie, M. J., Castagnola, T., Salatino, L., Domene, S., Marcovich, I., Gallino, S., Wedemeyer, C., Goutman, J. D., Plazas, P. V., & Elgoyhen, A. B. (2021). Unraveling the Molecular Players at the Cholinergic Efferent Synapse of the Zebrafish Lateral Line. The Journal of neuroscience : the official journal of the Society for Neuroscience, 41(1), 47–60.

⇒ https://doi.org/10.1523/JNEUROSCI.1772-20.2020

Domené, H. M., Wit, J. M., & Frank, S. J. (2021). Physiology of GH action and associated human disorders. Molecular and cellular endocrinology, 520, 111078.

⇒ https://doi.org/10.1016/j.mce.2020.111078

Armaiz-Pena, G., Flores, S. K., Cheng, Z. M., Zhang, X., Esquivel, E., Poullard, N., Vaidyanathan, A., Liu, Q., Michalek, J., Santillan-Gomez, A. A., Liss, M., Ahmadi, S., Katselnik, D., Maldonado, E., Salgado, S. A., Jimenez, C., Fishbein, L., Hamidi, O., Else, T., Lechan, R., … Dahia, P. (2021). Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update. The Journal of clinical endocrinology and metabolism, 106(1), e350–e364.

⇒ https://doi.org/10.1210/clinem/dgaa741