Review
Obstetrics & Gynecology
Bei Sun, John Yeh
Summary: This paper reviews the effects of calcium oscillatory patterns in oocytes and early embryo development, suggesting that abnormal calcium oscillations may be the primary mechanism for total fertilization failure (TFF). Studies also found strong associations between abnormal calcium oscillatory patterns and suboptimal developmental outcomes. Empirical use of artificial oocyte activation (AOA) methods has shown initial success in helping TFF patients.
REPRODUCTIVE SCIENCES
(2021)
Article
Cell Biology
Meng Wang, Lixia Zhu, Chang Liu, Hui He, Cheng Wang, Chenxi Xing, Jinming Liu, Liu Yang, Qingsong Xi, Zhou Li, Lei Jin
Summary: The study demonstrates that a new AOA method combining cycloheximide and ionomycin significantly increases fertilization rates for most TFF patients, potentially offering therapeutic benefits for couples experiencing severe fertilization deficiencies even after conventional AOA treatment.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Cell Biology
Haixia Chen, Peng Li, Xiaoling Du, Yiding Zhao, Lingling Wang, Ye Tian, Xueru Song, Ling Shuai, Xiaohong Bai, Lingyi Chen
Summary: Mutation in the SEPTIN12 gene is associated with male infertility. Male mice with Septin12 knockout are infertile and have abnormal sperm, but fertility can be restored with artificial oocyte activation. Loss of PLC zeta might be the reason for failed fertilization in Septin12-deficient sperm.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Endocrinology & Metabolism
Jing Ling Ruan, Shan Shan Liang, Jia Ping Pan, Zhi Qin Chen, Xiao Ming Teng
Summary: This retrospective study found that artificial oocyte activation (AOA) with calcium ionophore ionomycin can significantly improve the reproductive outcomes of patients with previous fertilization failure and poor embryo development after intracytoplasmic sperm injection (ICSI). AOA can increase fertilization rate, embryo quality, implantation rate, clinical pregnancy rate, and live birth rate, while decreasing miscarriage rate. The study suggests that AOA is an effective and safe treatment option for some infertility patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Obstetrics & Gynecology
Eliza C. C. Curnow, Bianca Vannucci, Charles H. H. Muller, Christopher N. N. Herndon
Summary: We report a rare case of successful live birth after assisted oocyte activation of failed fertilized oocytes. A woman with multi-factor infertility underwent in vitro fertilization (IVF) using intracytoplasmic sperm injection (ICSI) of frozen/thawed testicular sperm aspiration (TESA) sample. The oocytes showed failed fertilization, but the cycle was rescued using an assisted oocyte activation (AOA) protocol. One genetically normal embryo resulting from the AOA was transferred and led to a normal pregnancy and live birth.
REPRODUCTIVE SCIENCES
(2023)
Article
Cell Biology
Virginia Savy, Paula Stein, Min Shi, Carmen J. Williams
Summary: The study found that while there were subtle differences in calcium signaling in eggs following superovulation during parthenogenetic activation, there was no impact on the physiological calcium signaling at fertilization. This suggests that superovulation does not disrupt normal calcium signaling during fertilization, supporting its use for both clinical and experimental purposes.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Obstetrics & Gynecology
Marga Esbert, Andrew Carmody, Agustin Ballesteros, Emre Seli, Richard T. Scott
Summary: This study found that activation and cleavage can occur in unfertilized oocytes after failure to fertilize. However, exposure to Ca.I A23187 does not increase the prevalence of activation. These embryos arrest before reaching the blastocyst stage and have no reproductive potential.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Article
Reproductive Biology
Tzung-En Tsai, Pei-Hsuan Lin, Pei-Fen Lian, Chia-Jung Li, Salvatore Giovanni Vitale, Mislav Mikus, Wan-Ping Su, Hsiao-Wen Tsai, Kuan-Hao Tsui, Li-Te Lin
Summary: AOA may improve embryo quality in older patients with diminished ovarian reserve undergoing IVF-ICSI cycles, especially in women aged >= 40 years old.
JOURNAL OF OVARIAN RESEARCH
(2022)
Article
Obstetrics & Gynecology
Gerard Campos, Romualdo Sciorio, Sandro C. Esteves
Summary: Total fertilization failure is the failure of all metaphase II oocytes to fertilize in assisted reproduction cycles. Oocyte activation deficiency is the main cause of fertilization failure, attributed to sperm or oocyte issues. Diagnostic testing and artificial oocyte activation treatments are crucial for overcoming fertilization failure.
HUMAN REPRODUCTION UPDATE
(2023)
Article
Biology
Naoki Hirose, Yasuyuki Kikuchi, Atsuko Kageyama, Hibiki Sugita, Miu Sakurai, Yui Kawata, Jumpei Terakawa, Teruhiko Wakayama, Junya Ito, Naomi Kashiwazaki
Summary: During mammalian fertilization, intracellular calcium oscillations are needed for oocyte activation. Sperm lacking PLC zeta can still induce calcium rises in oocytes after IVF but not ICSI. Additional activation treatments such as SrCl2 and PLC zeta mRNA can rescue the developmental ability of Plcz1(-/-) sperm-derived oocytes after ICSI, leading to successful term development and healthy offspring.
Review
Developmental Biology
Yuhkoh Satouh
Summary: This article reports on the study of oocyte activation induced by PLCZ1 in mice, as well as the generation of PLCZ1-deficient mouse models using genome-editing techniques. The findings show that PLCZ1 deficiency in mice leads to subfertility but can be fully restored by intracytoplasmic sperm injection, indicating a PLCZ1-independent oocyte activation mechanism. These findings raise new questions in the field of sperm biology and have implications for the treatment and phenotypic interpretation of oocyte activation failure in patients.
Article
Endocrinology & Metabolism
Camille Robin, Audrey Uk, Christine Decanter, Helene Behal, Pierre Collinet, Chrystele Rubod, Anne-Laure Barbotin, Geoffroy Robin
Summary: The study aimed to evaluate the relationship between endometriosis and oocyte morphology after controlled ovarian stimulation for intracytoplasmic sperm injection (ICSI) on a large oocyte cohort, finding that endometriosis does not have a negative impact on oocytes' morphology in IVF-ICSI.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2021)
Review
Developmental Biology
Neha Gupta, Hiroki Akizawa, Hoi Chang Lee, Rafael A. Fissore
Summary: The discovery of PLCZ1 as a key factor in mammalian fertilization marked a significant breakthrough in understanding egg activation. The use of ICSI in humans confirmed the essential role of PLCZ1 in fertility, while also revealing potential novel components at the site of PLCZ1 residence in sperm. Further research in other species using ICSI highlighted gaps in our understanding of PLCZ1 release and activation, emphasizing the need for continued study in this area.
Article
Obstetrics & Gynecology
Xiaolei Chen, Haibin Zhao, Jiale Lv, Yi Dong, Maoning Zhao, Xinlei Sui, Ran Cui, Boyang Liu, Keliang Wu
Summary: This study investigates the efficacy of calcium (Ca2+) ionophore treatment in improving embryo development and pregnancy outcomes in patients with poor embryo development in previous intracytoplasmic sperm injection (ICSI) cycles. The results show that the use of calcium (Ca2+) ionophore significantly improves preimplantation development and pregnancy rates.
BMC PREGNANCY AND CHILDBIRTH
(2022)
Article
Developmental Biology
Anna Storey, Khalil Elgmati, Yisu Wang, Paul Knaggs, Karl Swann
Summary: The study revealed that mouse eggs are about 10 times more sensitive to InsP(3) than human eggs, and have consistently higher ATP levels. As a result, mouse eggs can undergo Ca2+ oscillations in response to Sr2+ stimulation, while human eggs may be unresponsive due to lower cytosolic ATP levels.
MOLECULAR HUMAN REPRODUCTION
(2021)
Article
Genetics & Heredity
Nuno Maia, Sven Potelle, Hamide Yildirim, Sandrine Duvet, Shyam K. Akula, Celine Schulz, Elsa Wiame, Alexander Gheldof, Katherine O'Kane, Abbe Lai, Karen Sermon, Maia Proisy, Philippe Loget, Tania Attie-Bitach, Chloe Quelin, Ana Maria Fortuna, Ana Rita Soares, Arjan P. M. de Brouwer, Emile Van Schaftingen, Marie-Cecile Nassogne, Christopher A. Walsh, Katrien Stouffs, Paula Jorge, Anna C. Jansen, Francois Foulquier
Summary: This study reports on six individuals, including two fetuses, with bi-allelic pathogenic variants in MAN2C1 gene from four different families. These individuals exhibit dysmorphic features, congenital anomalies, and brain abnormalities. The pathogenicity of MAN2C1 variants is confirmed, and it is demonstrated that these variants lead to accumulation and delay in the processing of fOSs in cells.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J. Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C. Y. de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Sahar Mansour, Stephen F. Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C. Jansen, Andrew E. Fry, Nadia Bahi-Buisson
Summary: This study aimed to further define the phenotypic spectrum of NMDAR-related malformations of cortical development (MCDs). Clinical, radiological, and molecular features of new and previously reported patients were analyzed and neuropathological findings were presented. The study provides new insights into the clinical and imaging features of NMDAR-related MCDs and contributes to our understanding of the underlying pathogenic mechanisms.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Clinical Neurology
Paul-Adrian Calburean, Luigi Pannone, Antonio Sorgente, Anais Gauthey, Cinzia Monaco, Antanas Strazdas, Alexandre Almorad, Antonio Bisignani, Gezim Bala, Robbert Ramak, Ingrid Overeinder, Erwin Stroker, Gudrun Pappaert, Sonia Van Dooren, Thomy de Ravel, Mark La Meir, Pedro Brugada, Juan Sieira, Gian-Battista Chierchia, Carlo de Asmundis
Summary: This study evaluated changes in electrocardiographic parameters during ajmaline testing for the diagnosis of Brugada syndrome (BrS). The results showed that important heart rate variability changes were induced by ajmaline in BrS patients, and increased microvolt T wave alternans (mTWA) was observed only in BrS patients. Patients with BrS who experienced ventricular arrhythmias during follow-up showed worse changes during ajmaline testing, including lower low frequency power and higher maximum mTWA.
CLINICAL AUTONOMIC RESEARCH
(2023)
Review
Obstetrics & Gynecology
Annelore Van Der Kelen, Ozlem Okutman, Elodie Javey, Munevver Serdarogullari, Charlotte Janssens, Manjusha S. Ghosh, Bart J. H. Dequeker, Florence Perold, Claire Kastner, Emmanuelle Kieffer, Ingrid Segers, Alexander Gheldof, Frederik J. Hes, Karen Sermon, Willem Verpoest, Stephane Viville
Summary: High-throughput sequencing methods have led to the identification of numerous gene variants in male and female infertility. Evidence-based curation of these genes can improve diagnostic performance and genetic research.
HUMAN REPRODUCTION UPDATE
(2023)
Article
Cardiac & Cardiovascular Systems
Luigi Pannone, Antonio Bisignani, Randy Osei, Anais Gauthey, Antonio Sorgente, Pasquale Vergara, Cinzia Monaco, Domenico Giovanni Della Rocca, Alvise Del Monte, Antanas Strazdas, Joerelle Mojica, Maysam Al Housari, Vincenzo Miraglia, Sahar Mouram, Gaetano Paparella, Robbert Ramak, Ingrid Overeinder, Gezim Bala, Alexandre Almorad, Erwin Stroker, Gudrun Pappaert, Juan Sieira, Thomy de Ravel, Mark La Meir, Pedro Brugada, Gian Battista Chierchia, Sonia Van Dooren, Carlo de Asmundis
Summary: The diagnostic yield of SCN5A gene testing in paediatric BrS patients is 46%, and having a P/LP variant in SCN5A is associated with a worse arrhythmic prognosis in children with BrS. There is no significant difference in the prognosis of ventricular arrhythmias between paediatric and adult BrS patients.
Article
Obstetrics & Gynecology
Florence Belva, Christophe Blockeel, Kathelijn Keymolen, Andrea Buysse, Maryse Bonduelle, Greta Verheyen, Mathieu Roelants, Herman Tournaye, Frederik Hes, Lisbet Van Landuyt
Summary: This study aimed to evaluate the health outcomes of children born after embryo vitrification compared to children born after fresh embryo transfer. The results showed that children born after embryo vitrification had higher birthweight, height, and head circumference than children born after fresh embryo transfer. However, there were no significant differences in growth and weight gain between the two groups during infancy and early childhood.
FERTILITY AND STERILITY
(2023)
Article
Obstetrics & Gynecology
A. Duval, D. Nogueira, N. Dissler, M. Maskani Filali, F. Delestro Matos, L. Chansel-Debordeaux, M. Ferrer-Buitrago, E. Ferrer, V Antequera, M. Ruiz-Jorro, A. Papaxanthos, H. Ouchchane, B. Keppi, P-y Prima, G. Regnier-Vigouroux, L. Trebesses, C. Geoffroy-Siraudin, S. Zaragoza, E. Scalici, P. Sanguinet, N. Cassagnard, C. Ozanon, A. de la Fuente, E. Gomez, M. Gervoise Boyer, P. Boyer, E. Ricciarelli, X. Pollet-Villard, A. Boussommier-Calleja
Summary: This study aimed to investigate whether artificial intelligence algorithms can better predict clinical pregnancy outcomes by enriching multi-centric clinical data. The results showed that training algorithms on multi-centric clinical data significantly improved the AUC compared to algorithms that only analyzed the time-lapse system videos. This study demonstrated the importance of considering multiple clinical factors in embryo evaluation and highlighted the potential of artificial intelligence in improving predictive performances.
HUMAN REPRODUCTION
(2023)
Article
Cardiac & Cardiovascular Systems
Stefaan Six, Peter Theuns, Pieter Libin, Ann Nowe, Luigi Pannone, Bart Bogaerts, Simon Jaxy, Catharina Olsen, Gudrun Pappaert, Isel Grau, Juan Sieira, Sonia Van Dooren, Esther Scheirlynck, Julie Nekkebroeck, Marina Mallefroy, Carlo de Asmundis, Johan Bilsen
Summary: This study aimed to assess the psychosocial outcomes of Brugada syndrome (BrS) patients and propose tailored psychosocial care. The results showed that BrS patients had higher levels of mental distress and a higher prevalence of Type D personality compared to the general population.
Article
Neurosciences
Steffi Schumacher, Hanane Tahiri, Pascal Ezan, Nathalie Rouach, Katja Witschas, Luc Leybaert
Summary: Therapeutic brain irradiation induces reorganization of astrocytic vesicular transport, leading to VEGF-A release and barrier leakage, and this process can be inhibited by targeting astrocyte connexin 43 (Cx43).
Article
Biochemistry & Molecular Biology
Alessio Lissoni, Siyu Tao, Rosalie Allewaert, Katja Witschas, Luc Leybaert
Summary: Cx43 hemichannels (HCs) and Panx1 channels, two genetically distant protein families, have been debated for their similarities in expression, membrane topology, and electrical properties. This study used mimetic peptides Gap19 and (10)Panx1 to investigate their cross-effects on Cx43 HCs and Panx1 channels. The results showed that Gap19 significantly inhibited Panx1 channels, while high concentrations of (10)Panx1 significantly reduced the activity of Cx43 HCs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, Research & Experimental
Luc Leybaert, Maarten A. J. De Smet, Alessio Lissoni, Rosalie Allewaert, H. Llewelyn Roderick, Geert Bultynck, Mario Delmar, Karin R. Sipido, Katja Witschas
Summary: This paragraph mainly discusses the role of connexins in cardiac function. Connexins form hemichannels and gap junctions, and gap junctions are responsible for transmitting electrical and chemical signals between myocardial cells and specialized conduction system cells to synchronize the cardiac cycle and control cardiac pump function. Under pathological conditions, gap junctions close and hemichannels open, leading to disruption of cardiac function and homeostasis. Current evidence shows that hemichannels play an emerging role in myocardial ischemia and arrhythmia, and there are now tools available to selectively inhibit hemichannels without inhibiting gap junctions, as well as to stimulate the incorporation of hemichannels into gap junctions. We review experimental evidence for the contribution of hemichannels to pro-arrhythmic events in ventricular and atrial cardiomyocytes, and link these findings to the molecular control of connexin-43-based hemichannel opening. We conclude that a double-edged approach of both preventing hemichannel opening and preserving gap junctional function will be crucial for further research and development of new connexin-based experimental approaches for treating heart disease.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Cardiac & Cardiovascular Systems
Antonio Bisignani, Luigi Pannone, Alvise Del Monte, Ivan Eltsov, Ida Anna Cappello, Juan Sieira, Cinzia Monaco, Gezim Bala, Sahar Mouram, Domenico Giovanni Della Rocca, Erwin Stroker, Ingrid Overeinder, Alexandre Almorad, Gudrun Pappaert, Anais Gauthey, Thomy de Ravel, Sonia Van Dooren, Antonio Sorgente, Mark La Meir, Andrea Sarkozy, Pedro Brugada, Gian-Battista Chierchia, Carlo de Asmundis
Summary: This study assessed underlying atrial cardiomyopathy in Brugada syndrome (BrS) and the effect of ajmaline test on the atrium of BrS patients using electrocardiogram imaging (ECGI). The study found that total atrial conduction time (TACT) and local atrial conduction time (LACT) were significantly prolonged in BrS patients, particularly after ajmaline administration and in patients with pathogenic SCN5A variants. TACT was identified as an independent predictor of atrial tachyarrhythmias (ATas) in BrS patients.
JACC-CLINICAL ELECTROPHYSIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Luigi Pannone, Anais Gauthey, Giulio Conte, Randy Osei, Daniela Campanale, Enrico Baldi, Paola Berne, Alessandro Vicentini, Pasquale Vergara, Antonio Sorgente, Christine Rootwelt-Norberg, Domenico Giovanni Della Rocca, Cinzia Monaco, Antonio Bisignani, Vincenzo Miraglia, Marcello Spolverini, Gaetano Paparella, Ingrid Overeinder, Gezim Bala, Alexandre Almorad, Erwin Straker, Thomy de Ravel, Argelia Medeiros-Domingo, Juan Sieira, Kristina H. Haugaa, Pedro Brugada, Mark La Meir, Angelo Auricchio, Gian-Battista Chierchia, Sonia Van Dooren, Carlo de Asmundis
Summary: This study aims to define the genetic background of individuals with idiopathic ventricular fibrillation (IVF) using large gene panel analysis and correlate genetics with long-term clinical outcomes. It was found that Pthorn or VUS carrier status is a predictor of ventricular arrhythmia occurrence.
JACC-CLINICAL ELECTROPHYSIOLOGY
(2023)
Article
Biochemical Research Methods
Laura D. T. Vo Ngoc, Randy Osei, Katrin Dohr, Catharina Olsen, Sara Seneca, Alexander Gheldof
Summary: EDIR is a database containing the positions of interspersed repeats within the human exome. It has been calculated using an inductive strategy and can be queried through an R/Bioconductor package or a web interface.
Meeting Abstract
Biochemistry & Molecular Biology
Tibbe Dhooge, Tim Van Damme, Delfien Syx, Laura Muino Mosquera, Sheela Nampoothiri, Anil Radhakrishnan, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, Maryse Bonduelle, Isabelle Migeotte, Osama Essawi, Serdar Ceylaner, Adila Al Kindy, Brad Tinkle, Sofie Symoens, Fransiska Malfait
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)