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1. P-082 Microfluidic-based device selects sperm with less DNA damage and higher motility, what else?

Author

M.L Pardiñas Garcia, J.M De los Santos, T Viloria, D Ortega-Jaen, A Martin, and M.J De los Santos

Subjects
Reproductive Medicine, Rehabilitation, Obstetrics and Gynecology
Abstract

Study question Does the microfluidic-based sperm selection device ZyMōt improve sperm parameters and other laboratory key performance indicator (KPI) values compared to the conventional swim-up method? Summary answer The microfluidic-based sperm selection device ZyMōt selects sperm with lower DNA fragmentation and higher motility than conventional swim-up method in intracytoplasmic sperm injection (ICSI) cycles. What is known already Elevated levels of sperm DNA fragmentation (SDF) in semen samples have been associated with poor embryo development and low pregnancy rates. SDF refers to breaks in the sperm's genetic material, mainly due to defects during spermatogenesis and other factors such as reactive oxygen species that are favored by centrifugation. Conventional sperm selection methods, by integrating centrifugation into their protocols, have become ineffective in selecting sperm with low SDF. In order to solve this problem and improve reproductive outcomes, microfluidic-based devices such as ZyMōt have been designed to avoid centrifugation and select spermatozoa with low SDF. Study design, size, duration Prospective, experimental, single-center study conducted from June to December 2021. A total of 14 couples with ≥ 10 retrieved oocytes were recruited for an intra-patient comparison. Semen sample was split and processed for ICSI by the conventional swim-up method or by the microfluidic-based device ZyMōt. Each fraction was used to fertilize half of the total number of oocytes retrieved. SDF index, semen parameters, useful blastocyst rate, fertilization rate and morphokinetic variables were observed. Participants/materials, setting, methods Oocytes retrieved were from own (n = 96) and donation cycles (n = 93). From each patient, the cohort of oocytes was divided into two groups: 1) inseminated with spermatozoa selected by swim-up and 2) inseminated with spermatozoa selected by ZyMōt 850 µL device. Embryo evaluation and development were then followed by time-lapse monitoring using EmbryoScope. Sperm chromatin dispersion (SCD) assay was used to measure SDF, analyzed by ImageJ. Each treatment followed routine protocol established in the clinical practice. Main results and the role of chance SDF index was significantly lower in ZyMōt group in comparison with swim-up group (10% vs 20%), indicating a better selection by the ZyMōt of sperm with less DNA breaks. Additionally, ZyMōt group also presented a significantly greater number of spermatozoa with progressive motility (96.9% vs 95.4%). In contrast, useful blastocyst rate showed a slightly, but not significantly, increment in ZyMōt group compared to swim-up group (53.2% vs 46.6%). No significant differences in fertilization rate or sperm recovery rate were observed between groups. Regarding morphokinetic parameters, timing variables from first cell division to blastocyst stage (t2-tB) showed no significant correlation with ZyMōt group contrasted with swim-up. Blastocysts were evaluated and a value was assigned with respect to their quality (A to D). There was a higher number of embryos with A grade in ZyMōt group and a higher number of embryos with D grade in swim-up group. The annotated variables were assessed using paired t-test and P value Limitations, reasons for caution The impact on reproductive outcomes may vary depending on whether the breakage is single- or double-stranded, however, SCD is not able to distinguish between them. These, together with the oocyte's ability to repair sperm damage, lead us to the explanation for the non-significance on embryo quality. Wider implications of the findings This study provides further insights into the use of ZyMōt for the selection of low SDF spermatozoa in a simple manner. Its use could be indicated in patients with a high SDF value in their semen samples. Benefits on reproductive outcome will be confirmed with larger sample size. Trial registration number 2102-VLC-007-MD

Published
2022
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2. Nuclear track detector response to energetic heavy ions: study case

Author

T. Viloria, M. E. López Herrera, B. Pérez, P. Pereyra, E. Vadillo, L. Sajo-Bohus, and D. Palacios

Subjects
Physics, Physics::Instrumentation and Detectors, Health, Toxicology and Mutagenesis, Nuclear engineering, Nuclear Theory, Detector, Public Health, Environmental and Occupational Health, Radiation, 010403 inorganic & nuclear chemistry, 01 natural sciences, Pollution, 0104 chemical sciences, Analytical Chemistry, Ion, Track analysis, Ionizing radiation, Nuclear Energy and Engineering, Nuclear track, Dosimetry, Radiology, Nuclear Medicine and imaging, Irradiation, Nuclear Experiment, Spectroscopy
Abstract

Nuclear track methodology (NTM), is employed to analyze PADC detectors response to different energetic ion beams. Due to the passive device linearity response to heavy ions with LET-value > 30 keV μm−1, they are employed in several fields e.g. nuclear industry, medical, environmental radiation and aircraft dosimetry. To further improve application, PADC-detectors were irradiated by beams of 4He (150 MeV nucleon−1), 12C (390 MeV nucleon−1) and 56Fe (465 MeV nucleon−1), in relatively low-dose range ≤ 1 mGy. Results provided, through etched track analysis, valuable information of interest for NTM when high LET ionizing radiation is involved.

Published
2020
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3. Allele-specific methylation occurs at genetic variants associated with complex disease.

Author

John N Hutchinson, Towfique Raj, Jes Fagerness, Eli Stahl, Fernando T Viloria, Alexander Gimelbrant, Johanna Seddon, Mark Daly, Andrew Chess, and Robert Plenge

Subjects
Medicine, Science
Abstract

We hypothesize that the phenomenon of allele-specific methylation (ASM) may underlie the phenotypic effects of multiple variants identified by Genome-Wide Association studies (GWAS). We evaluate ASM in a human population and document its genome-wide patterns in an initial screen at up to 380,678 sites within the genome, or up to 5% of the total genomic CpGs. We show that while substantial inter-individual variation exists, 5% of assessed sites show evidence of ASM in at least six samples; the majority of these events (81%) are under genetic influence. Many of these cis-regulated ASM variants are also eQTLs in peripheral blood mononuclear cells and monocytes and/or in high linkage-disequilibrium with variants linked to complex disease. Finally, focusing on autoimmune phenotypes, we extend this initial screen to confirm the association of cis-regulated ASM with multiple complex disease-associated variants in an independent population using next-generation bisulfite sequencing. These four variants are implicated in complex phenotypes such as ulcerative colitis and AIDS progression disease (rs10491434), Celiac disease (rs2762051), Crohn's disease, IgA nephropathy and early-onset inflammatory bowel disease (rs713875) and height (rs6569648). Our results suggest cis-regulated ASM may provide a mechanistic link between the non-coding genetic changes and phenotypic variation observed in these diseases and further suggests a route to integrating DNA methylation status with GWAS results.

Published
2014
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4. Reproductive (epi)genetics

Author

C. Lynch, N. Tee, H. Rouse, A. Gordon, L. Sati, C. Zeiss, B. Soygur, I. Bassorgun, E. Goksu, R. Demir, J. McGrath, M. L. Groendahl, L. Thuesen, A. N. Andersen, A. Loft, J. Smitz, T. Adriaenssens, J. Vikesa, R. Borup, E. Mersy, N. Kisters, M. V. E. Macville, J. J. M. Engelen, S.-E. N. N. Consortium, P. P. C. A. Menheere, J. P. Geraedts, A. B. C. Coumans, S. G. M. Frints, T. Aledani, S. Assou, S. Traver, O. Ait-ahmed, H. Dechaud, S. Hamamah, E. Mizutani, N. Suzumori, C. Sugiyama, Y. Hattori, T. Sato, H. Ando, Y. Ozaki, M. Sugiura-Ogasawara, M. Wissing, S. G. Kristensen, C. Y. Andersen, A. L. Mikkelsen, T. Hoest, A. Velthut-Meikas, J. Simm, M. Metsis, A. Salumets, S. Palini, L. Galluzzi, S. De Stefani, M. Primiterra, D. Wells, M. Magnani, C. Bulletti, P. H. Vogt, P. Frank-Herrmann, U. Bender, T. Strowitzki, B. Besikoglu, P. Heidemann, L. Wunsch, M. Bettendorf, L. Jelinkova, S. Vilimova, M. Kosarova, P. Sebek, E. Volemanova, M. Kruzelova, J. Civisova, L. Svobodova, V. Sobotka, T. Mardesic, C. van de Werken, M. A. Santos, C. Eleveld, J. S. E. Laven, E. B. Baart, L. Y. Pylyp, L. A. Spinenko, V. D. Zukin, J. Perez-Sanz, R. Matorras, J. Arluzea, J. Bilbao, N. Gonzalez-Santiago, N. Yeh, A. Koff, A. Barlas, Y. Romin, K. Manova-Todorova, C. D. l. Hoz, A. L. Mauri, A. M. Nascimento, L. D. Vagnini, C. G. Petersen, J. Ricci, F. C. Massaro, M. Cavagna, A. Pontes, J. B. A. Oliveira, R. L. R. Baruffi, J. G. Franco, E. X. Wu, S. Ma, M. Parriego, M. Sole, M. Boada, B. Coroleu, A. Veiga, G. Kakourou, M. Poulou, C. Vrettou, A. Destouni, J. Traeger-Synodinos, E. Kanavakis, A. N. Yatsenko, A. P. Georgiadis, M. M. McGuire, M. Zorrilla, K. D. Bunce, D. Peters, A. Rajkovic, M. Olszewska, M. Kurpisz, A. Z. A. Gilbertson, C. S. Ottolini, M. C. Summers, K. Sage, A. H. Handyside, A. R. Thornhill, D. K. Griffin, M. K. Chung, J. W. Kim, J. H. Lee, H. J. Jeong, M. H. Kim, M. J. Ryu, S. J. Park, H. Y. Kang, H. S. Lee, B. Zimmermann, M. Banjevic, M. Hill, P. Lacroute, M. Dodd, S. Sigurjonsson, P. Lau, D. Prosen, N. Chopra, A. Ryan, M. Hall, S. McAdoo, Z. Demko, B. Levy, M. Rabinowitz, A. Vereczeky, Z. S. Kosa, S. Savay, M. Csenki, L. Nanassy, B. Dudas, Z. S. Domotor, D. Debreceni, A. Rossi, J. R. Alegretti, J. Cuzzi, M. Bonavita, M. Tanada, P. Matunaga, P. Fettback, M. B. Rosa, V. Maia, P. Hassun, E. L. A. Motta, M. Piccolomini, C. Gomes, B. Barros, M. Nicoliello, T. Criscuolo, E. Miyadahira, D. Montjean, M. Benkhalifa, I. Berthaut, J. F. Griveau, K. Morcel, A. Bashamboo, K. McElreavey, C. Ravel, C. Rubio, L. Rodrigo, E. Mateu, A. Mercader, V. Peinado, P. Buendia, M. Milan, A. Delgado, N. Al-Asmar, L. Escrich, I. Campos-Galindo, S. Garcia-Herrero, M. E. Poo, P. Mir, C. Simon, A. Reyes-Engel, M. Cortes-Rodriguez, A. Lendinez, B. Perez-Nevot, A. R. Palomares, M. R. Galdon, A. Ruberti, M. G. Minasi, A. Biricik, A. Colasante, D. Zavaglia, E. Iammarrone, F. Fiorentino, E. Greco, N. Demir, S. Ozturk, B. Sozen, R. Morales, B. Lledo, J. A. Ortiz, J. Ten, J. Llacer, R. Bernabeu, M. Nagayoshi, A. Tanaka, I. Tanaka, H. Kusunoki, S. Watanabe, S. G. Temel, C. Beyazyurek, G. C. Ekmekci, F. Aybar, C. Cinar, S. Kahraman, S. Nordqvist, K. Karehed, H. Akerud, M. Gultomruk, P. Tulay, N. Findikli, E. Yagmur, G. Karlikaya, U. Ulug, M. Bahceci, M. F. Bargallo, M. R. Arevalo, M. M. Salat, I. V. Barbat, J. T. Lopez, M. E. Algam, A. B. Boluda, G. C. de Oya, E. N. Tolmacheva, A. A. Kashevarova, N. A. Skryabin, I. N. Lebedev, E. Semaco, A. Belo, M. Riboldi, L. Luz, N. Nobrega, R. Mazetto, J. A. Alegretti, M. Bibancos, P. Serafini, J. Neupane, M. Vandewoestyne, B. Heindryckx, T. Deroo, Y. Lu, S. Ghimire, S. Lierman, C. Qian, D. Deforce, P. De Sutter, T. Viloria, J. M. Martinez-Jabaloyas, M. Gil-Salom, A. Capalbo, N. Treff, D. Cimadomo, X. Tao, K. Ferry, F. M. Ubaldi, L. Rienzi, R. T. Scott, N. Katzorke, H. P. Vogt, A. Hehr, C. Gassner, B. Paulmann, Z. Kowalzyk, M. Klatt, S. Krauss, D. Seifert, B. Seifert, U. Hehr, M. Lobascio, M. T. Varricchio, P. Rubino, S. Bono, R. P. Cotarelo, L. Spizzichino, A. Colicchia, P. Giannini, M. Suhorutshenko, and K. Rosenstein-Tamm

Subjects
Genetics, Reproductive Medicine, Rehabilitation, Obstetrics and Gynecology, Biology
Published
2013
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5. Embryology

Author

G. Gandhi, G. Allahbadia, S. Kagalwala, A. Allahbadia, S. Ramesh, K. Patel, R. Hinduja, V. Chipkar, M. Madne, R. Ramani, J. K. Joo, J. E. Jeung, K. R. Go, K. S. Lee, H. Goto, S. Hashimoto, A. Amo, T. Yamochi, H. Iwata, Y. Morimoto, M. Koifman, S. Lahav-Baratz, E. Blais, Z. Megnazi-Wiener, D. Ishai, R. Auslender, M. Dirnfeld, V. Zaletova, E. Zakharova, I. Krivokharchenko, S. Zaletov, L. Zhu, Y. Li, H. Zhang, J. Ai, L. Jin, X. Zhang, N. Rajan, A. Kovacs, C. Foley, J. Flanagan, J. O'Callaghan, J. Waterstone, T. Dineen, E. M. Dahdouh, P. St-Michel, L. Granger, B. Carranza-Mamane, F. Faruqi, T. V. Kattygnarath, F. L. A. F. Gomes, N. Christoforidis, C. Ioakimidou, C. Papas, M. Moisidou, A. Chatziparasidou, M. Klaver, K. Tilleman, P. De Sutter, J. Lammers, T. Freour, C. Splingart, P. Barriere, T. Ikeno, Y. Nakajyo, Y. Sato, K. Hirata, T. Kyoya, K. Kyono, F. B. Campos, M. Meseguer, M. Nogales, E. Martinez, M. Ariza, D. Agudo, L. Rodrigo, J. A. Garcia-Velasco, A. S. Lopes, V. Frederickx, G. Vankerkhoven, A. Serneels, P. Roziers, P. Puttermans, R. Campo, S. Gordts, E. Fragouli, S. Alfarawati, K. Spath, D. Wells, J. Liss, K. Lukaszuk, J. Glowacka, A. Bruszczynska, S. C. Gallego, L. O. Lopez, E. O. Vila, M. G. Garcia, C. L. Canas, A. G. Segovia, A. G. Ponce, R. N. Calonge, P. C. Peregrin, K. Ito, Y. Nakaoka, D. D. Alcoba, E. G. Valerio, M. Conzatti, J. Tornquist, A. P. Kussler, A. M. Pimentel, H. E. Corleta, I. S. Brum, P. Boyer, D. Montjean, P. Tourame, M. Gervoise-Boyer, J. Cohen, B. Lefevre, C. I. Radio, J. P. Wolf, A. Ziyyat, I. De Croo, A. Tolpe, S. Degheselle, A. Van de Velde, E. Van den Abbeel, M. Kuwayama, A. Khatoon, S. Alsule, M. Inaba, A. Ohgaki, A. Ohtani, H. Matsumoto, S. Mizuno, R. Mori, A. Fukuda, Y. Umekawa, A. Yoshida, S. Tanigiwa, K. Seida, H. Suzuki, M. Tanaka, Z. Vahabi, P. E. Yazdi, A. Dalman, B. Ebrahimi, F. Mostafaei, M. R. Niknam, S. Watanabe, M. Kamihata, T. Tanaka, R. Matsunaga, N. Yamanaka, C. Kani, T. Ishikawa, T. Wada, H. Morita, H. Miyamura, E. Nishio, M. Ito, A. Kuwahata, M. Ochi, T. Horiuchi, M. Dal Canto, M. C. Guglielmo, R. Fadini, M. M. Renzini, D. F. Albertini, P. Novara, M. Lain, F. Brambillasca, D. Turchi, M. Sottocornola, G. Coticchio, M. Kato, N. Fukunaga, R. Nagai, H. Kitasaka, T. Yoshimura, F. Tamura, N. Hasegawa, K. Nakayama, M. Takeuchi, H. Ohno, N. Aoyagi, E. Kojima, F. Itoi, Y. Hashiba, Y. Asada, H. Kikuchi, Y. Iwasa, T. Kamono, A. Suzuki, K. Yamada, H. Kanno, K. Sasaki, H. Murakawa, M. Matsubara, H. Yoshida, C. Valdespin, M. Elhelaly, P. Chen, M. Pangestu, S. Catt, N. Hojnik, B. Kovacic, P. Roglic, M. Taborin, M. Zafosnik, J. Knez, V. Vlaisavljevic, C. Mori, A. Yabuuchi, K. Ezoe, Y. Takayama, F. Aono, K. Kato, P. Radwan, R. Krasinski, K. Chorobik, M. Radwan, M. Stoppa, R. Maggiulli, A. Capalbo, E. Ievoli, L. Dovere, C. Scarica, L. Albricci, S. Romano, F. Sanges, N. Barnocchi, L. Papini, A. Vivarelli, F. M. Ubaldi, L. Rienzi, S. Bono, L. Spizzichino, C. Rubio, F. Fiorentino, J. Ferris, L. A. Favetta, N. MacLusky, W. A. King, T. Madani, N. Jahangiri, R. Aflatoonian, E. Cater, D. Hulme, K. Berrisford, L. Jenner, A. Campbell, S. Fishel, X. Y. Zhang, A. Yilmaz, H. Hananel, A. Ao, T. Vutyavanich, W. Piromlertamorn, U. Saenganan, S. Samchimchom, B. Wirleitner, B. Lejeune, N. H. Zech, P. Vanderzwalmen, E. Albani, V. Parini, A. Smeraldi, F. Menduni, R. Antonacci, A. Marras, S. Levi, G. Morreale, B. Pisano, A. Di Biase, A. Di Rosa, P. E. L. Setti, V. Puard, V. Cadoret, T. Tranchant, C. Gauthier, E. Reiter, F. Guerif, D. Royere, S. Y. Yoon, J. H. Eum, E. A. Park, T. Y. Kim, T. K. Yoon, D. R. Lee, W. S. Lee, A. C. Cabal, B. Vallejo, P. Campos, E. Sanchez, J. Serrano, J. Remohi, V. Nagornyy, P. Mazur, D. Mykytenko, L. Semeniuk, V. Zukin, P. Guilherme, C. Madaschi, T. C. S. Bonetti, G. Fassolas, C. R. Izzo, M. J. D. L. Santos, D. Beltran, V. Garcia-Laez, M. J. Escriba, N. Grau, L. Escrich, C. Albert, J. L. Zuzuarregui, A. Pellicer, Y. LU, D. Nikiforaki, F. V. Meerschaut, J. Neupane, W. H. De Vos, S. Lierman, T. Deroo, B. Heindryckx, J. Li, X. Y. Chen, G. Lin, G. N. Huang, Z. Y. Sun, Y. Zhong, B. Zhang, T. Li, S. P. Zhang, H. Ye, S. B. Han, S. Y. Liu, J. Zhou, G. X. Lu, G. L. Zhuang, L. Muela, M. Roldan, B. Gadea, M. Martinez, I. Perez, M. Munoz, C. Castello, M. Asensio, P. Fernandez, A. Farreras, S. Rovira, J. M. Capdevila, E. Velilla, M. Lopez-Teijon, P. Kovacs, S. Z. Matyas, V. Forgacs, A. Reichart, F. Rarosi, A. Bernard, A. Torok, S. G. Kaali, A. Sajgo, C. S. Pribenszky, B. Sozen, S. Ozturk, A. Yaba-Ucar, N. Demir, N. Gelo, P. Stanic, V. Hlavati, S. ogoric, D. Pavicic-Baldani, M. prem-Goldtajn, B. Radakovic, M. Kasum, M. Strelec, T. Canic, V. imunic, H. Vrcic, M. Ajina, D. Negra, H. Ben-Ali, S. Jallad, I. Zidi, S. Meddeb, M. Bibi, H. Khairi, A. Saad, P. Gamiz, T. Viloria, E. T. Lima, M. P. Fernandez, J. A. A. Prieto, M. O. Varela, D. Kassa, E. M. Munoz, K. Kani, M. N. K. Nor-Ashikin, J. M. Y. Norhazlin, S. Norita, W. J. Wan-Hafizah, M. Mohd-Fazirul, D. Razif, B. P. Hoh, S. Dale, G. Woodhead, S. Andronikou, G. Francis, S. Tailor, M. Vourliotis, P. A. Almeida, M. Krivega, H. Van de Velde, R. K. Lee, Y. M. Hwu, C. H. Lu, S. H. Li, A. Vaiarelli, M. Desgro, A. Baggiani, E. Zannoni, L. B. Kermavner, I. V. Klun, B. Pinter, E. Vrtacnik-Bokal, C. De Paepe, G. Cauffman, G. Verheyen, D. Stoop, I. Liebaers, A. Stecher, M. Zintz, A. Neyer, M. Bach, B. Baramsai, D. Schwerda, Z. Wiener-Megnazi, M. Fridman, I. Blais, H. Akerud, K. Lindgren, K. Karehed, K. Wanggren, J. Hreinsson, B. Freijomil, A. Weiss, R. Neril, J. Geslevich, R. Beck-Fruchter, M. Lavee, J. Golan, A. Ermoshkin, E. Shalev, W. Shi, S. Zhang, W. Zhao, X. I. A. Xue, M. I. N. Wang, H. Bai, J. Shi, H. L. Smith, L. Shaw, S. Kimber, D. Brison, I. Boumela, S. Assou, D. Haouzi, O. A. Ahmed, H. Dechaud, S. Hamamah, R. Dasiman, A. R. Nor-Shahida, O. Salina, R. A. F. Gabriele, D. Ben-Yosef, T. Shwartz, T. Cohen, A. Carmon, N. M. Raz, M. Malcov, T. Frumkin, B. Almog, I. Vagman, R. Kapustiansky, A. Reches, F. Azem, A. Amit, M. Cetinkaya, C. Pirkevi, H. Yelke, Y. Kumtepe, Z. Atayurt, S. Kahraman, R. Risco, M. Hebles, A. M. Saa, M. A. Vilches-Ferron, P. Sanchez-Martin, E. Lucena, M. Lucena, M. D. L. Heras, J. A. Agirregoikoa, G. Barrenetxea, J. L. De Pablo, A. Lehner, C. Pribenszky, A. Murber, J. Rigo, J. Urbancsek, P. Fancsovits, D. G. Bano, A. Sanchez-Leon, J. Marcos, M. Molla, B. Amorocho, M. Nicolas, L. Fernandez, J. Landeras, O. A. Adeniyi, S. M. Ehbish, D. R. Brison, A. Egashira, M. Murakami, E. Nagafuchi, K. Tanaka, A. Tomohara, C. Mine, H. Otsubo, A. Nakashima, M. Otsuka, N. Yoshioka, T. Kuramoto, D. Choi, H. Yang, J. H. Park, J. H. Jung, H. G. Hwang, J. H. Lee, J. E. Lee, A. S. Kang, J. H. Yoo, H. C. Kwon, S. J. Lee, S. Bang, H. Shin, H. J. Lim, S. H. Min, J. Y. Yeon, D. B. Koo, S. Higo, L. Ruvalcaba, M. Kobayashi, T. Takeuchi, A. Miwa, Y. Nagai, Y. Momma, K. Takahashi, M. Chuko, A. Nagai, J. Otsuki, S. G. Kim, Y. Y. Kim, H. J. Kim, I. H. Park, H. G. Sun, K. H. Lee, H. J. Song, N. Costa-Borges, M. Belles, J. Herreros, J. Teruel, A. Ballesteros, G. Calderon, L. Vossaert, C. Qian, Y. Lu, J. B. Parys, D. Deforce, L. Leybaert, L. Surlan, V. Otasevic, K. Velickovic, I. Golic, M. Vucetic, V. Stankovic, J. Stojnic, N. Radunovic, I. Tulic, B. Korac, A. Korac, R. Elias, Q. V. Neri, T. Fields, P. N. Schlegel, Z. Rosenwaks, G. D. Palermo, A. Gilson, N. Piront, B. Heens, C. Vastersaegher, A. Vansteenbrugge, P. C. P. Pauwels, M. F. Abdel-Raheem, M. Y. Abdel-Rahman, H. M. Abdel-Gaffar, M. Sabry, H. Kasem, S. M. Rasheed, M. Amin, A. Abdelmonem, A. S. Ait-Allah, M. VerMilyea, J. Anthony, J. Bucci, S. Croly, C. Coutifaris, D. Cimadomo, L. Dusi, S. Colamaria, E. Baroni, M. Giuliani, F. Sapienza, L. Buffo, E. Zivi, E. Aizenman, D. Barash, D. Gibson, Y. Shufaro, M. Perez, J. Aguilar, E. Taboas, M. Ojeda, L. Suarez, E. Munoz, V. Casciani, M. G. Minasi, F. Scarselli, M. Terribile, D. Zavaglia, A. Colasante, G. Franco, E. Greco, C. Hickman, C. Cook, D. Gwinnett, G. Trew, A. Carby, S. Lavery, L. Asgari, D. Paouneskou, K. Jayaprakasan, W. Maalouf, B. K. Campbell, E. Rega, A. Alteri, R. P. Cotarelo, P. Rubino, A. Colicchia, P. Giannini, R. Devjak, T. B. Papler, K. F. Tacer, I. Verdenik, B. Iussig, A. Gala, A. Ferrieres, C. Vincens, S. Bringer-Deutsch, C. Brunet, J. Conaghan, L. Tan, M. Gvakharia, K. Ivani, A. Chen, R. R. Pera, N. Bowman, S. Montgomery, L. Best, S. Duffy, R. Hirata, Y. Aoi, T. Habara, N. Hayashi, V. Dinopoulou, G. A. Partsinevelos, R. Bletsa, D. Mavrogianni, E. Anagnostou, K. Stefanidis, P. Drakakis, D. Loutradis, J. Hernandez, C. L. Leon, M. Puopolo, A. Palumbo, F. Atig, A. Kerkeni, G. D'Ommar, A. K. Herrera, L. Lozano, M. Majerfeld, Z. Ye, N. Zaninovic, R. Clarke, R. Bodine, V. Nagorny, A. Zabala, T. Pessino, S. Outeda, L. Blanco, F. Leocata, R. Asch, M. H. Rajikin, A. S. Nuraliza, S. Machac, V. Hubinka, M. Larman, M. Koudelka, T. P. Budak, O. O. Membrado, E. S. Martinez, P. Wilson, A. McClure, G. Nargund, D. Raso, M. F. Insua, B. Lotti, S. Giordana, C. Baldi, J. Barattini, M. Cogorno, N. F. Peri, F. Neuspiller, S. Resta, A. Filannino, E. Maggi, G. Cafueri, A. P. Ferraretti, M. C. Magli, L. Gianaroli, A. Sioga, Z. Oikonomou, K. Chatzimeletiou, L. Oikonomou, E. Kolibianakis, B. C. Tarlatzis, M. R. Sarkar, D. Ray, J. Bhattacharya, J. M. Alises, D. Gumbao, C. F. L. Hickman, I. Fiorentino, R. Gualtieri, V. Barbato, S. Braun, V. Mollo, P. Netti, R. Talevi, A. Bayram, N. Findikli, M. Serdarogullari, O. Sahin, U. Ulug, S. B. Tosun, M. Bahceci, A. S. Leon, M. C. A. Cardoso, A. P. S. Aguiar, C. Sartorio, A. Evangelista, P. Gallo-Sa, M. C. Erthal-Martins, E. Mantikou, M. J. Jonker, M. de Jong, K. M. Wong, A. P. A. van Montfoort, T. M. Breit, S. Repping, S. Mastenbroek, E. Power, K. Jordan, T. Aksoy, M. Gultomruk, A. Aktan, C. Goktas, R. Petracco, L. Okada, R. Azambuja, F. Badalotti, J. Michelon, V. Reig, D. Kvitko, A. Tagliani-Ribeiro, M. Badalotti, A. Petracco, B. Aydin, I. Cepni, D. Rodriguez-Arnedo, J. Ten, J. Guerrero, I. Ochando, and R. Bernabeu

Subjects
Reproductive Medicine, Rehabilitation, Obstetrics and Gynecology
Published
2013
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6. EMBRYOLOGY

Author

G. U. Furia, E. H. Kostelijk, C. G. Vergouw, H. Lee, S. Lee, D. Park, H. Kang, C. Lim, K. Yang, Y. Park, M. Shin, Z. Beyhan, J. D. Fisch, G. Sher, L. Keskintepe, M. D. VerMilyea, J. T. Anthony, J. R. Graham, M. J. Tucker, T. Freour, S. Lattes, J. Lammers, W. Mansour, M. Jean, P. Barriere, I. El Danasouri, F. Gagsteiger, L. Rinaldi, H. Selman, I. Antonova, T. Milachich, L. Valkova, A. Shterev, J. Barcroft, N. Dayoub, J. Thong, H. Abdel Reda, Y. Khalaf, T. El Touky, R. Cabry, R. Brzakowski, E. Lourdel, F. Brasseur, H. Copin, P. Merviel, M. Yamada, K. Takanashi, T. Hamatani, H. Akutsu, T. Fukunaga, O. Inoue, S. Ogawa, K. Sugawara, N. Okumura, N. Chikazawa, N. Kuji, A. Umezawa, M. Tomita, Y. Yoshimura, M. Van der Jeught, S. Ghimire, T. O'Leary, S. Lierman, D. Deforce, S. Chuva de Sousa Lopes, B. Heindryckx, P. De Sutter, J. Herrero, A. Tejera, M. J. De los Santos, D. Castello, J. L. Romero, M. Meseguer, F. Leperlier, S. Mirallie, R. Schats, M. Al-Nofal, J. W. Lens, H. Rooth, P. G. Hompes, C. B. Lambalk, J. Hreinsson, P. O. Karlstrom, K. Wanggren, M. Lundqvist, Z. Vahabi, P. Eftekhari-Yazdi, A. Dalman, B. Ebrahimi, M. T. Daneshzadeh, M. Rajabpour Niknam, E. G. Choi, Y. H. Rho, D. S. Oh, L. S. Park, H. S. Cheon, C. S. Lee, I. K. Kong, S. C. Lee, J. Liebenthron, M. Montag, M. Koster, B. Toth, J. Reinsberg, H. van der Ven, T. Strowitzki, H. Morita, T. Hirosawa, S. Watanabe, T. Wada, M. Kamihata, A. Kuwahata, M. Ochi, T. Horiuchi, H. Fatemeh, L. Karimian, M. Fazel, H. Fouladi, L. Johansson, T. Ruttanajit, S. Chanchamroen, P. Sopaboon, S. Seweewanlop, K. Sawakwongpra, P. Jindasri, T. Jantanalapruek, K. Charoonchip, G. Vajta, W. Quangkananurug, G. Yi, J. W. Jo, B. C. Jee, C. S. Suh, S. H. Kim, Y. Zhang, H. J. Zhao, Y. G. Cui, C. Gao, L. L. Gao, J. Y. Liu, E. Sozen, B. Buluc, K. Vicdan, C. Akarsu, G. Tuncay, F. Hambiliki, M. Bungum, K. Agapitou, E. Makrakis, S. Liarmakopoulou, C. Anagnostopoulou, T. Moustakarias, D. Giannaris, J. Wang, M. Andonov, E. Linara, C. Charleson, K. K. Ahuja, S. Ozsoy, M. B. Morris, M. L. Day, A. Cobo, T. Viloria, P. Campos, B. Vallejo, J. Remohi, M. Roldan, I. Perez-Cano, M. Cruz, M. Martinez, B. Gadea, M. Munoz, N. Garrido, N. Mesut, H. N. Ciray, A. Mesut, A. Isler, M. Bahceci, S. Fortuno, V. Legidos, L. Muela, N. Galindo, S. Gunasheela, D. Gunasheela, S. Ueno, K. Uchiyama, M. Kondo, M. Ito, K. Kato, Y. Takehara, O. Kato, D. H. Edgar, J. A. Krapez, L. Bacer Kermavner, I. Virant-Klun, B. Pinter, T. Tomazevic, E. Vrtacnik-Bokal, S. G. Lee, S. M. Kang, S. W. Lee, H. J. Jeong, Y. C. Lee, J. H. Lim, I. Bochev, S. Kyurkchiev, M. Wilding, G. Coppola, L. Di Matteo, B. Dale, M. Hormann-Kropfl, D. Kastelic, M. Schenk, S. Fourati Ben Mustapha, M. Khrouf, M. Braham, L. Kallel, H. Elloumi, G. Merdassi, A. Chaker, M. Ben Meftah, F. Zhioua, A. Zhioua, J. Kocent, Q. V. Neri, Z. Rosenwaks, G. D. Palermo, L. Best, A. Campbell, S. Fishel, N. Calimlioglu, G. Sahin, A. Akdogan, T. Susamci, M. Bilgin, E. N. T. Goker, E. Tavmergen, C. Cantatore, J. Ding, R. Depalo, G. D. Smith, E. Kasapi, Y. Panagiotidis, A. Papatheodorou, M. Goudakou, T. Pasadaki, N. Nikolettos, B. Asimakopoulos, Y. Prapas, E. Soydan, G. Gulebenzer, E. Karatekelioglu, E. Budak, T. Pehlivan Budak, J. Alegretti, J. Cuzzi, P. M. Negrao, M. P. Moraes, M. B. Bueno, P. Serafini, E. L. A. Motta, A. Elaimi, J. C. Harper, A. Stecher, P. Baborova, B. Wirleitner, D. Schwerda, P. Vanderzwalmen, N. H. Zech, P. Stanic, V. Hlavati, N. Gelo, D. Pavicic-Baldani, M. Sprem-Goldstajn, B. Radakovic, M. Kasum, M. Strelec, V. Simunic, H. Vrcic, I. Khan, M. Urich, T. Abozaid, K. Ullah, M. Abuzeid, M. Fakih, N. Shamma, J. Ayers, M. Ashraf, S. Milik, C. Pirkevi, Z. Atayurt, S. Yazici, H. Yelke, S. Kahraman, M. Dal Canto, G. Coticchio, F. Brambillasca, M. Mignini Renzini, P. Novara, L. Maragno, G. Karagouga, E. De Ponti, R. Fadini, S. Resta, M. C. Magli, G. Cavallini, F. Muzzonigro, A. P. Ferraretti, L. Gianaroli, M. Barberi, G. Orlando, R. Sciajno, L. Serrao, L. Fava, S. Preti, M. A. Bonu, A. Borini, M. Varras, A. Polonifi, M. Mantzourani, D. Mavrogianni, K. Stefanidis, T. Griva, R. Bletsa, V. Dinopoulou, P. Drakakis, D. Loutradis, C. F. L. Hickman, S. Duffy, N. Bowman, K. Gardner, L. Sati, C. Zeiss, R. Demir, J. McGrath, S. Yildiz, S. Unal, Y. Kumtepe, F. Aljaser, J. Hernandez, M. Tomlinson, B. Campbell, N. Fosas, M. Redondo Ania, F. Marina, F. Molfino, P. Martin, N. Perez, A. Carrasco, N. Garcia, S. Gonzalez, S. Marina, P. Scaruffi, S. Stigliani, G. P. Tonini, P. L. Venturini, P. Anserini, M. C. Guglielmo, D. F. Albertini, M. Lain, I. Caliari, Z. Oikonomou, K. Chatzimeletiou, A. Sioga, L. Oikonomou, E. Kolibianakis, B. Tarlatzis, S. A. Nottola, V. Bianchi, C. Lorenzo, M. Maione, G. Macchiarelli, E. Gomez, M. A. Gil, J. Sanchez-Osorio, C. Maside, M. J. Martinez, I. Torres, C. Rodenas, C. Cuello, I. Parrilla, G. Molina, A. Garcia, J. Margineda, S. Navarro, J. Roca, E. A. Martinez, F. Avcil, H. Ozden, Z. N. Candan, H. Uslu, Y. Karaman, G. Gioacchini, E. Giorgini, O. Carnevali, P. Ferraris, L. Vaccari, S. Choe, J. Tae, C. Kim, J. Lee, D. Hwang, K. Kim, C. Suh, B. Jee, S. L. Catt, H. Sorenson, M. Vela, V. Duric, P. Chen, P. D. Temple-Smith, M. Pangestu, T. Yoshimura, N. Fukunaga, R. Nagai, H. Kitasaka, F. Tamura, N. Hasegawa, M. Kato, K. Nakayama, M. Takeuchi, N. Aoyagi, K. Yasue, H. Watanabe, E. Asano, Y. Hashiba, Y. Asada, K. Iwata, K. Yumoto, C. Mizoguchi, H. Sargent, Y. Kai, M. Ueda, Y. Tsuchie, A. Imajo, Y. Iba, Y. Mio, C. L. Els-Smit, M. H. Botha, M. Sousa, M. Windt-De Beer, T. F. Kruger, N. Muller, C. Magli, G. Corani, A. Giusti, E. Castelletti, L. Gambardella, S. Seshadri, S. K. Sunkara, T. El-Toukhy, I. Kishi, T. Maruyama, M. Ohishi, Y. Akiba, H. Asada, Y. Konishi, M. Nakano, K. Kamei, J. H. Lee, K. H. Lee, I. H. Park, H. G. Sun, S. G. Kim, Y. Y. Kim, E. M. Choi, D. H. Lee, S. L. Chavez, K. E. Loewke, B. Behr, J. Han, F. Moussavi, R. A. Reijo Pera, H. Yokota, Y. Yokota, M. Yokota, S. Sato, M. Nakagawa, M. Sato, I. Anazawa, Y. Araki, K. Knez, B. Pozlep, M. D. Vermilyea, M. J. Levy, M. Carvalho, I. Cordeiro, F. Leal, A. Aguiar, J. Nunes, C. Rodrigues, A. P. Soares, S. Sousa, C. Calhaz-Jorge, D. P. A. F. Braga, A. S. Setti, R. C. S. Figueira, T. Aoki, A. Iaconelli, E. Borges, S. Ozkavukcu, M. Sonmezer, C. Atabekoglu, B. Berker, B. Ozmen, S. Isbacar, E. Ibis, J. Menezes, P. G. L. Lalitkumar, P. Borg, E. Ekwurtzel, S. Nordqvist, K. Vaegter, C. Tristen, P. Sjoblom, M. C. Azevedo, J. Remohi Gimenez, P. Gamiz, C. Albert, R. C. Ferreira, S. Resende, S. S. Colturato, M. Ferrer Buitrago, E. Ferrer Robles, P. Munoz Soriano, M. Ruiz-Jorro, C. Calatayud Lliso, V. Y. Rawe, J. Hanrieder, F. Gulen-Yaldir, J. Bergquist, A. Stavreus-Evers, A. Grunskis, A. Bazarova, I. Dundure, V. Fodina, J. Brikune, J. Lakutins, C. Pribenszky, M. Cornea, A. Reichart, G. Uhereczky, E. Losonczy, L. Ficsor, Z. Lang, S. Ohgi, C. Nakamura, C. Hagiwara, M. Kawashima, A. Yanaihara, G. M. Jones, M. Biba, G. Kokkali, T. Vaxevanoglou, M. Chronopoulou, K. Petroutsou, K. Sfakianoudis, K. Pantos, S. Romano, L. Albricci, M. Stoppa, C. Cerza, F. Sanges, S. Fusco, A. Capalbo, R. Maggiulli, F. Ubaldi, L. Rienzi, J. Ulrick, S. Kilani, M. Chapman, C. Losada, I. Ortega, A. Pacheco, F. Bronet, J. Aguilar, M. Ojeda, E. Taboas, M. Perez, E. Munoz, A. Pellicer, I. Boumela, S. Assou, D. Haouzi, C. Monzo, H. Dechaud, S. Hamamah, Y. Nakaoka, S. Hashimoto, A. Amo, K. Yamagata, T. Nakano, Y. Akamatsu, T. Mezawa, Y. Ohnishi, T. Himeno, T. Inoue, K. Ito, and Y. Morimoto

Subjects
Reproductive Medicine, Rehabilitation, Obstetrics and Gynecology
Published
2012
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7. SESSION 16: EMBRYOLOGY - EMBRYO IN MOTION

Author

H. Ingerslev, J. Hindkjaer, K. Kirkegaard, Y. Teranishi, H. Ando, T. Takayanagi, N. Suzuki, H. Moroi, M. Mukai, S. Shen, A. A. Chen, S. P. Willman, P. E. Chenette, R. Boostanfar, V. L. Baker, M. Abusief, V. Suraj, K. Wirka, K. Loewke, M. Meseguer, A. Tejera, J. Herrero, M. de los Santos, T. Viloria, J. Remohi, P. Gamiz, N. Basile, M. Munoz, J. Marcos, and A. Requena

Subjects
Reproductive Medicine, Embryology, Rehabilitation, Obstetrics and Gynecology, Embryo, Session (computer science), Anatomy, Biology, Motion (physics)
Published
2012
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8. SELECTED ORAL COMMUNICATION SESSION, SESSION 43: EMBRYOLOGY - TIME AND SPATIAL DEVELOPMENT, Tuesday 5 July 2011 15:15 - 16:30

Author

M. Meseguer, J. Herrero, A. Tejera, T. Viloria, K. M. Hilligsoe, M. J. De los Santos, N. Ramsing, N. Garrido, N. Grau, S. Perez Albala, A. Genoves, L. Escrich, M. J. Escriba, J. Holte, L. Berglund, N. Hadziosmanovic, J. Tilly, H. Pettersson, T. Bergh, A. Giusti, M. C. Magli, G. Corani, B. Paviglianiti, L. Gianaroli, and L. Gambardella

Subjects
Medical education, Reproductive Medicine, Embryology, Rehabilitation, Obstetrics and Gynecology, Session (computer science), Psychology
Published
2011
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9. Allele-Specific Methylation Occurs at Genetic Variants Associated with Complex Disease

Author

Jes Fagerness, Towfique Raj, Robert M. Plenge, Johanna M. Seddon, Fernando T. Viloria, Andrew Chess, Alexander A. Gimelbrant, Eli A. Stahl, Mark J. Daly, and John N. Hutchinson

Subjects
Bisulfite sequencing, lcsh:Medicine, Gene Expression, Genome-wide association study, Biochemistry, 0302 clinical medicine, Genetics of the Immune System, Medicine and Health Sciences, Disease, lcsh:Science, Oligonucleotide Array Sequence Analysis, Genetics, 0303 health sciences, education.field_of_study, Multidisciplinary, Genomics, 3. Good health, Functional Genomics, Phenotype, DNA methylation, Epigenetics, DNA modification, Research Article, Population, Immunology, Biology, Autoimmune Diseases, 03 medical and health sciences, Genetic variation, Genome-Wide Association Studies, Humans, Gene Regulation, Allele, education, Genetic Association Studies, Alleles, 030304 developmental biology, Genetic association, Biology and life sciences, lcsh:R, Computational Biology, Genetic Variation, Human Genetics, DNA, DNA Methylation, Genome Analysis, Gene Expression Regulation, Genetics of Disease, lcsh:Q, Clinical Immunology, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

We hypothesize that the phenomenon of allele-specific methylation (ASM) may underlie the phenotypic effects of multiple variants identified by Genome-Wide Association studies (GWAS). We evaluate ASM in a human population and document its genome-wide patterns in an initial screen at up to 380,678 sites within the genome, or up to 5% of the total genomic CpGs. We show that while substantial inter-individual variation exists, 5% of assessed sites show evidence of ASM in at least six samples; the majority of these events (81%) are under genetic influence. Many of these cis-regulated ASM variants are also eQTLs in peripheral blood mononuclear cells and monocytes and/or in high linkage-disequilibrium with variants linked to complex disease. Finally, focusing on autoimmune phenotypes, we extend this initial screen to confirm the association of cis-regulated ASM with multiple complex disease-associated variants in an independent population using next-generation bisulfite sequencing. These four variants are implicated in complex phenotypes such as ulcerative colitis and AIDS progression disease (rs10491434), Celiac disease (rs2762051), Crohn's disease, IgA nephropathy and early-onset inflammatory bowel disease (rs713875) and height (rs6569648). Our results suggest cis-regulated ASM may provide a mechanistic link between the non-coding genetic changes and phenotypic variation observed in these diseases and further suggests a route to integrating DNA methylation status with GWAS results.

Published
2014

10. Radioisotope Concentration in Lake Sediments of Maracaibo, Venezuela

Author

A. Rangel Salas, T. Viloria, L. Sajo-Bohus, H. Barros, E. D. Greaves, D. Palacios, Ricardo Alarcon, Philip L. Cole, Chaden Djalali, and Fernando Umeres

Subjects
Hydrology, Shore, geography, geography.geographical_feature_category, Isotopes of potassium, Isotopes of uranium, Sediment, Local environment, Chemical pollution, Water pollution, Isotopes of thorium, Geology
Abstract

Maracaibo Lake is one of the most important water basing and oil producing regions in Venezuela. Changes in the local environment have been monitored for chemical pollution in the past. For this study we selected a set of sediment samples collected in the shore and analyzed for its radioisotope content. Results show the gamma emitting isotopes distribution. Isotopes concentrations have been determined within the natural K, Th and U families.

Published
2007
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11. Smoking habits of parents and male: female ratio in spermatozoa and preimplantation embryos.

Author

T. Viloria, M.C. Rubio, L. Rodrigo, G. Calderon, A. Mercader, E. Mateu, M. Meseguer, J. Remohi, and A. Pellicer

Subjects
*SPERMATOZOA, *SMOKING, *EMBRYOLOGY, *GENETIC disorder diagnosis
Abstract

BACKGROUND: Previous observations have addressed a decreased male:female ratio associated with smoking. Our aim was to assess whether this effect is observed at the spermatozoa or at the early embryo development. METHODS: We retrospectively assessed smoking intake habits of 56 couples included in our preimplantation genetic diagnosis (PGD) program. Three groups were established according to male or female cigarette consumption per day: non-smokers, smokers (1–19 cigarettes per day) and heavy smokers (≥20 cigarettes per day). Fluorescence in-situ hybridization (FISH) was performed on ejaculated sperm samples to analyse chromosomes X and Y. On day 3, embryos were also analysed. Additionally, sperm samples from four heavy smoking and four non-smoking donors were prospectively analysed before and after capacitation. RESULTS: FISH on spermatozoa revealed no statistical differences in the Y:X ratio between the three groups. However, in the PGD study, in male heavy smokers, the XY:XX embryo ratio was decreased compared with non-smokers (22:47 versus 80:71; P=0.0057). The smoking condition of the female partner had no significant effect on embryo XY:XX ratio, but for non-smoking females with a heavy smoking partner, the ratio was decreased (P=0.0018) compared with non-smoking males. In heavy smoking donors a decreased of Y:X ratio was observed after swim-up with a statistically significant difference of ratios (P=0.021). CONCLUSIONS: Smoking habits of males do not have an effect on the percentage of X- and Y-bearing spermatozoa on ejaculated samples. However, male heavy smokers produce an increased incidence of female embryos that could be related to an enrichment of X spermatozoa after swim-up in patients with high tobacco consumption. [ABSTRACT FROM AUTHOR]

Published
2005
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12. Impact of sperm chromosomal abnormalities on the chromosomal constitution of preimplantation embryos.

Author

L., Rodrigo, E., Mateu, V., Peinado, T., Viloria, M., Milán, F., Bronet, P., Mir, J., Remohí, A., Pellicer, M., Gil-Salom, and C., Rubio

Subjects
*SPERMATOZOA, *CHROMOSOME abnormalities, *PREIMPLANTATION genetic diagnosis, *HUMAN embryos, *SEX chromosomes
Abstract

Objective: To assess preimplantation genetic diagnosis (PGD) outcome of couples with an increased incidence of diploid spermatozoa or disomy for sex chromosomes and, to evaluate how these abnormalities in sperm affect the chromosome constitution of embryos. Materials/Methods: We analysed three groups of patients with a normal karyotype and female age ≤37 years. Group 1 included 47 PGD cycles in patients with a previous fluorescence in-situ hybridization (FISH) analysis in spermatozoa showing a significant increase of disomy for sex chromosomes compared with normozoospermic fertile donors. Group 2 comprised 27 PGD cycles in patients with a previous FISH analysis showing a significant increase of diploid spermatozoa compared with normozoospermic fertile donors. The control group included 36 PGD cycles for sex-linked diseases. FISH analysis in sperm was carried out for chromosomes 13, 18, 21, X and Y. In PGD cycles, embryo biopsy was performed on day 3 of development and chromosomes 13, 15, 16, 18, 21,22, X and Y were analysed by FISH (Vysis, Inc.). Results: PGD outcome revealed a significantly lower fertilization rate in groups 1 and 2 compared with controls (71.0% and 73.9%, respectively versus 81.1%, P < 0.05). Pregnancy rates (51.2%, 45.5% and 26.7%) and implantation rates (40.0%, 35.9% and 24.6%) were similar to controls (groups 1, 2 and control respectively). Miscarriage rate in group 2 was higher than in group 1 (40.0% versus 4.8%, P < 0.05). Percentages of chromosomally abnormal embryos in groups 1 and 2 were significantly higher than controls (62.8% and 56.3%, respectively versus 37.9%, P < 0.001 ). Percentages of mosaic embryos in groups 1 and 2 were significantly higher compared with controls (40.4% and 30.0%, respectively versus 14.2%, P < 0.05). Group 1 showed a significantly higher percentage of embryos with abnormalities for most of the chromosomes analysed compared with controls and, particularly for sex chromosomes compared with controls and group 2 (20.1% versus 11.5% and 9.4%, respectively, P < 0.05%). Group 2 showed a similar incidence of embryos with abnormalities for all the chromosomes analysed compared with controls. However, this group showed a higher incidence of triploid embryos than controls (3.5% versus 0.0%, P < 0.05). Conclusion: Patients with an increased incidence of sperm chromosomal abnormalities show lower fertilization rates and higher percentages of chromosomally abnormal embryos and mosaicism. A high incidence of spermatozoa with disomy for sex chromosomes is associated with increased production of aneuploid embryos. However, a high incidence of diploid spermatozoa has an impact on embryo ploidy, increasing the production of triploid embryos. [ABSTRACT FROM AUTHOR]

Published
2008
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13. Repeated pregnancy loss.

Author

C., Rubio, L., Rodrigo, A., Mercader, E., Mateu, P., Buendía, V., Peinado, A., Delgado, M., Milán, T., Pehlivan, T., Viloria, P., Mir, C., Simón, J., Remohí, and A., Pellicer

Subjects
*HUMAN chromosome abnormalities, *GAMETOGENESIS, *HUMAN embryology, *ETIOLOGY of diseases, *MISCARRIAGE, *INFERTILITY treatment, *PREIMPLANTATION genetic diagnosis
Abstract

Objective: Chromosome abnormalities, arising de novo from random errors produced during gametogenesis and embryonic development, may be an important aetiological factor in some patients with unexplained repeated pregnancy loss (RPL). The objective of our study was to identify specific subgroups of RPL patients in whom the selection of chromosomally normal embryos for transfer would improve their reproductive outcome, by decreasing the risk of a further miscarriage. Materials/Methods: Retrospective study of 428 cycles, from patients with normal karyotypes and two or more previous abortions of unknown aetiology (January 1997-December 2007). The incidence of chromosomal abnormalities, pregnancy, implantation and miscarriage rates were evaluated according to the following factors: maternal age, miscarriages from spontaneous pregnancies or from fertility treatments, presence of chromosomal abnormalities in a previous miscarriage/ pregnancy, number of previous miscarriages and presence of chromosomal abnormalities in sperm samples. Results: The incidence of chromosomal abnormalities was higher in RPL patients >37 years (64.3 versus 72.2%, P = 0.0004). In patients ≤37 years of age, we observed significantly higher pregnancy (45.0 versus 32.4%, P < 0.0384), implantation (35.1 versus 26.1%, P < 0.0434) and lower miscarriage rates (11.7 versus 24.4%, P = 0.0283), compared with patients over 37 years of age. In patients ≤37 years of age, results were compared taking into account different factors: (i) chromosomal abnormalities in previous miscarriages/pregnancies: significantly higher implantation rates after PGD (48.1 versus 32.9%, P = 0.0411) were observed in couples with a previous aneuploid miscarriage/pregnancy; (ii) origin of the pregnancy: similar aneuploidy, pregnancy and implantation rates were observed in RPL couples with previous miscarriages from fertility treatments compared with couples with previous spontaneous pregnancies. Despite not being statistically significant, a lower miscarriage rate was observed in the first group (4.5 versus 13.9%); (iii) FISH studies in spermatozoa: couples with abnormal FISH results in spermatozoa did not miscarry after a preimplantation genetic diagnosis (PGD) cycle, whereas couples with normal FISH results in spermatozoa showed 20.0% miscarriage rate; and (iv) number of previous miscarriages: lower implantation rate was observed in couples with five or more previous miscarriages, associated with lower percentage of chromosomally abnormal embryos compared with couples with two, three or four previous miscarriages. Conclusion: PGD would be strongly recommended when RPL is associated with: miscarriages from infertility treatments, previous chromosomopathy, less than five previous miscarriages and, increased incidence of chromosomal abnormalities in spermatozoa. [ABSTRACT FROM AUTHOR]

Published
2008
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14. Late-Onset Autoimmune Lymphoproliferative Syndrome in a Costa Rican Woman.

Author

Alfaro-Murillo A, Correa-Jimenez O, González-Chapa J, Viloria-González T, Calvo-Solís M, and Maradei-Anaya S

Abstract

Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder (PIRD). This disease usually develops during childhood. However, atypically, some cases may have their onset in adulthood. We report the case of a 44-year-old woman with a history of autoimmune hemolytic anemia at 33 years old. The patient presented due to asthenia and a large, painful lymph node in the left axillary region for the last four months. Enlargement of the axillary and inguinal lymph nodes was found by mammography, breast, and abdominal ultrasounds. An excisional biopsy of the axillary lymph node conglomerate did not document immunophenotypical alterations of T or B lymphocytes but showed progressive transformation of germinal centers with reactive follicular hyperplasia. The lymph node cytometry did not show a malignant phenotype. The immunological work-up documented IgG and IgA hypergammaglobulinemia and slightly decreased IgM; the B cell immunophenotype documented a slight increase in CD21low B cells and decreased memory B cells. The blood count was normal. The T cell compartment evidenced 27% CD3 + /αβ + /γδ - /CD4 - /CD8 -  of the total T CD3 +  cells and 15% of the total lymphocytes. A pathogenic heterozygous variant in the  FAS  gene, exon 9, c.785T>A (p.Ile262Asn), was documented. This variant has not been previously described. This case highlights the importance of considering the diagnosis of ALPS even in adulthood. Genetic conditions such as incomplete penetrance or variable expressivity that depend on factors that are not entirely clear in ALPS, such as epigenetics and environmental factors, among others, could generate the onset of this disease in adulthood in a smaller number of patients., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Alfaro-Murillo et al.)

Published
2023
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15. Reduced oxygen tension improves embryo quality but not clinical pregnancy rates: a randomized clinical study into ovum donation cycles.

Author

de los Santos MJ, Gámiz P, Albert C, Galán A, Viloria T, Pérez S, Romero JL, and Remohï J

Subjects
Adult, Embryo Culture Techniques methods, Embryo Culture Techniques standards, Embryo Transfer statistics & numerical data, Female, Fertilization in Vitro statistics & numerical data, Humans, Middle Aged, Oocyte Donation methods, Osmolar Concentration, Pregnancy, Pressure, Quality Control, Embryo, Mammalian cytology, Embryo, Mammalian drug effects, Oocyte Donation statistics & numerical data, Oxygen pharmacology, Pregnancy Rate
Abstract

Objective: To investigate the effect of low O2 tension during in vitro culture in terms of ongoing pregnancy rates in ovum donation cycles., Design: Randomized trial., Setting: Private university-affiliated IVF center, university-based hospital., Patient(s): A total of 1,125 cycles of ovum donation., Intervention(s): Embryo culture in an atmosphere of 5.5% CO2, 6% O2, and 88.5% N2 versus a dual-gas system of 5.5% CO2 in air., Main Outcome Measure(s): Ongoing clinical pregnancy rates per intention-to-treat (ITT) patients., Result(s): The use of low O2 tension achieved a 41.3% ongoing pregnancy rate per ITT compared with a 40.8% rate obtained for 5% CO2 in air. The mean number of blastomeres and the percentage of top-quality embryos were significantly higher after lower O2 concentration during in vitro culture (7.1 ± 3.6 and 28.6% vs. 7.3 ± 8.4 and 32.1%, respectively)., Conclusion(s): In the ovum donation cycles undergoing day-3 embryo transfers, the use of low O2 tension did not improve ongoing pregnancy rates per cycle and per transfer. However, it benefited embryo quality, demonstrating the potential negative impact of high O2 tension on the in vitro embryo development., (Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

Published
2013
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16. Time-dependent O2 consumption patterns determined optimal time ranges for selecting viable human embryos.

Author

Tejera A, Herrero J, Viloria T, Romero JL, Gamiz P, and Meseguer M

Subjects
Abortion, Spontaneous, Adenosine Triphosphate metabolism, Adult, Blastocyst cytology, Cohort Studies, Embryo Implantation, Energy Metabolism physiology, Female, Humans, Oocyte Donation, Ovulation Induction methods, Pregnancy, Pregnancy Rate, Retrospective Studies, Sperm Injections, Intracytoplasmic methods, Time Factors, Young Adult, Blastocyst metabolism, Embryo Transfer methods, Oxygen Consumption physiology
Abstract

Objective: To evaluate correlations between metabolic activity and implantation potential of transferred embryos in a study based on oxygen (O(2)) consumption (OC) measurements, because O(2) uptake is directly related to the capacity of an embryo to produce energy via adenosine triphosphate., Design: Retrospective cohort study., Setting: Infertility institute., Patient(s): Five hundred seventy-five injected oocytes in 56 first oocyte donation cycles with embryo transfer on day 3., Intervention(s): None., Main Outcome Measure(s): We analyzed embryo destination viability and implantation depending on the embryo OC rate obtained from 47,741 measurements (up to 85 measurements per embryo, 2-3 measurements per hour). OC patterns were analyzed in relation to the time elapsed from sperm microinjection, to the final destination of the embryos (transferred, frozen, or discarded), to ongoing pregnancy, and by successful implantation., Result(s): OC was found to decrease during embryonic development. OC patterns from 52 hours onward showed the strongest correlation with implantation success. Regarding embryo destination, the same patterns were observed., Conclusion(s): OC from individual embryos revealed significant differences, mainly close to the time of transfer, when OC pattern was associated with successful implantation. Therefore, measuring the OC pattern of human embryos culture up to 72 hours could be used to select the embryo with best developmental potential., (Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

Published
2012
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17. Report of results obtained in 2,934 women using donor sperm: donor insemination versus in vitro fertilization according to indication.

Author

Viloria T, Garrido N, Minaya F, Remohí J, Muñoz M, and Meseguer M

Subjects
Adult, Azoospermia physiopathology, Chi-Square Distribution, Female, Humans, Logistic Models, Male, Maternal Age, Odds Ratio, Pregnancy, Pregnancy Rate, Retrospective Studies, Risk Assessment, Risk Factors, Spain, Sperm Injections, Intracytoplasmic, Treatment Outcome, Azoospermia therapy, Fertilization in Vitro adverse effects, Insemination, Artificial, Heterologous adverse effects, Single Person, Spermatozoa, Tissue Donors
Abstract

Objective: To demonstrate that the use of donor sperm leads to varying outcome rates and that its use has evolved., Design: Retrospective observational cohort study., Setting: University-affiliated private IVF setting., Patient(s): Women (2,934) undergoing donor insemination (DI) or IVF with donor sperm (IVF-D)., Intervention(s): None., Main Outcome Measurement(s): We evaluated the distribution of the clinical indications for the use of donated sperm, studying the reproductive outcome., Result(s): A total of 1,663 DI (57%) and 1,271 IVF-D (43%) were performed. There were significant differences in the indications for the use of donated sperm (DI vs. IVF-D). Regarding pregnancy rates (PR), cases of nonobstructive azoospermia presented the highest rate (29.1%), whereas cases of intracytoplasmic sperm injection (ICSI) failures and single women showed rates of 27.6% and 22.6%, respectively. Meanwhile, patients with ICSI failures achieved the highest PRs in IVF cycles (48.7%), whereas nonobstructive azoospermia and single women showed rates of 42.0% and 38.2%, respectively. There have been significant increases in the use of donated sperm in single women., Conclusion(s): Single women, which also represented the oldest group, show a lower probability of achieving pregnancy, and thus represent a subfertile population. Associated factors could include advanced maternal age., (Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

Published
2011
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18. Cigarette smoking affects specific sperm oxidative defenses but does not cause oxidative DNA damage in infertile men.

Author

Viloria T, Meseguer M, Martínez-Conejero JA, O'Connor JE, Remohí J, Pellicer A, and Garrido N

Subjects
Gene Expression Regulation, Enzymologic, Glutathione metabolism, Glutathione Peroxidase genetics, Glutathione Peroxidase metabolism, Glutathione Reductase genetics, Glutathione Reductase metabolism, Humans, Infertility, Male pathology, Infertility, Male physiopathology, Male, Phospholipid Hydroperoxide Glutathione Peroxidase, RNA, Messenger metabolism, Spermatozoa pathology, Glutathione Peroxidase GPX1, DNA Damage physiology, Infertility, Male metabolism, Oxidative Stress physiology, Smoking adverse effects, Spermatozoa metabolism
Abstract

Objective: To evaluate the effects of tobacco consumption on the oxidative defenses of sperm, the glutathione system (GS), and sperm DNA oxidation., Design: Double-blind experimental study., Setting: Andrology laboratory in a university-affiliated private setting., Patient(s): One hundred seventeen semen samples from infertile males., Intervention(s): None., Main Outcome Measure(s): (a) sperm GS enzymatic activity with respect to glutathione peroxidase isoforms GPx-1 and GPx-4, glutathione reductase (GR), and cellular glutathione (GSH) content (n = 29); (b) GPx-1, GPx-4, and GR mRNA expression analysis (n = 33); (c) oxidative DNA damage quantification using OXIDNA assay kit (n = 55). Two groups were established: nonsmoking and smoking males. The t tests were employed to detect significant differences between groups., Result(s): We identified a significant decrease in sperm GPx-4 activity but not in GPx-1 and GSH activity in smokers compared with nonsmokers. A significant decrease was also observed in GPx-1, GPx-4, and GR mRNA expression in the former group. Interestingly, we did not observe any significant variation in the percentage of cells with oxidative damage of the DNA or in the average level of oxidation of affected cells with respect to the smoking condition of the male., Conclusion(s): We demonstrate that smoking has a negative impact on intracellular antioxidant enzymes but that effect does not increase oxidative DNA damage. Thus, the effects of reduced oxidative defenses in sperm as a result of cigarette smoking are yet to be elucidated., (Copyright 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

Published
2010
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19. Sperm selection by swim-up in terms of deoxyribonucleic acid fragmentation as measured by the sperm chromatin dispersion test is altered in heavy smokers.

Author

Viloria T, Garrido N, Fernández JL, Remohí J, Pellicer A, and Meseguer M

Subjects
Adult, Cell Separation, Fertilization in Vitro, Humans, Male, Middle Aged, Molecular Diagnostic Techniques, Sperm Capacitation, Sperm Retrieval, Chromatin metabolism, DNA Fragmentation, Infertility, Male diagnosis, Infertility, Male etiology, Smoking adverse effects, Spermatozoa cytology
Abstract

Toxic habits and their relationship with male factor infertility have been a matter of investigation in recent years, and smoking is one of the most common lifestyle toxic exposures to harmful substances. The analysis of sperm deoxyribonucleic acid fragmentation after capacitation detected a detrimental effect produced by tobacco, and this deleterious effect alters the sperm swim-up selection process in smokers, although the molecular and cellular basis of this phenomenon remain to be elucidated.

Published
2007
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20. Impact of chromosomal abnormalities on preimplantation embryo development.

Author

Rubio C, Rodrigo L, Mercader A, Mateu E, Buendía P, Pehlivan T, Viloria T, De los Santos MJ, Simón C, Remohí J, and Pellicer A

Subjects
Adult, Chromosomes, Human, X, Culture Techniques methods, Female, Fertilization in Vitro, Humans, In Situ Hybridization, Fluorescence, Maternal Age, Mosaicism, Pregnancy, Trisomy, Aneuploidy, Blastocyst physiology, Embryo Implantation genetics, Embryonic Development genetics, Genetic Testing methods, Preimplantation Diagnosis methods
Abstract

Objectives: To evaluate the influence of numerical chromosomal abnormalities on preimplantation embryo development., Methods: This study includes 6936 embryos from 1245 women undergoing preimplantation genetic diagnosis (PGD). Indications for aneuploidy screening were: recurrent miscarriages, implantation failure, severe male factor, advanced maternal age, and mixed causes. Embryo biopsy was performed on day 3, and embryos were co-cultured until day 5, when embryo transfer was performed., Results: In the aneuploidy screening regimen, normal euploid embryos showed significantly higher blastocyst rates (68.2%) compared to chromosomally abnormal (42.8%, p < 0.0001) and mosaic (53.7%, p < 0.0001) embryos. Among aneuploid embryos for autosomes, higher blastocyst rates were observed in trisomies than monosomies, although only statistically significant in patients over 36 years of age (50.8 vs 38.9%; p < 0.0001). In contrast, in embryos with sex chromosomes aneuploidy, similar blastocyst rates were observed between trisomies and monosomy X., Conclusion: Embryos with certain types of chromosomal abnormalities were negatively selected during preimplantation embryo development. Despite this selection, a remarkable percentage of chromosomally abnormal embryos can develop normally to blastocyst stage with high probability of implantation and pregnancy., (Copyright (c) 2007 John Wiley & Sons, Ltd.)

Published
2007
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