Review
Medicine, General & Internal
Martina Balli, Anna Cecchele, Valerio Pisaturo, Sofia Makieva, Giorgia Carullo, Edgardo Somigliana, Alessio Paffoni, Paola Vigano'
Summary: This article reviews the advantages and limitations of conventional IVF and discusses fundamental questions related to the technique. It provides insights into the opportunities and best practices in human c-IVF in the field of reproductive medicine.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Rheumatology
Yiming Luo, Marcela A. Ferrada, Keith A. Sikora, Cameron Rankin, Hugh D. Alessi, Daniel L. Kastner, Zuoming Deng, Mengqi Zhang, Peter A. Merkel, Virginia B. Kraus, Andrew S. Allen, Peter C. Grayson
Summary: This study suggests that rare variants in the DCBLD2 gene may play a role in the development of RP. These findings should be further validated in a larger sample and supported by functional experiments.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Medicine, General & Internal
Su-Jung Park, Narae Lee, Seong-Hee Jeong, Mun-Hui Jeong, Shin-Yun Byun, Kyung-Hee Park
Summary: The prevalence of genetic causes in SGA infants without known risk factors was 22%, and targeted-panel sequencing or whole-exome sequencing was effective in diagnosing the etiology of SGA infants without a known cause.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Obstetrics & Gynecology
Paraskevi Vogiatzi, Abraham Pouliakis, Maria Sakellariou, Aikaterini Athanasiou, Adamantios Athanasiou, Alexandros Colaghis, Renata Finelli, Dimitrios Loutradis, Ralf Henkel, Ashok Agarwal
Summary: This retrospective cohort study found that advanced paternal age and reduced sperm motility negatively impact the outcomes of oocyte donation-intracytoplasmic sperm injection (OD-ICSI), affecting fertilization rates, embryo quality, pregnancy success, and live birth rates. Asthenozoospermia in male partners was associated with lower success rates in biochemical pregnancy, clinical pregnancy, and live birth in OD-ICSI cycles. Personalized management strategies incorporating male fertility evaluations based on these findings are crucial for improving treatment outcomes in assisted reproduction.
REPRODUCTIVE SCIENCES
(2022)
Article
Medicine, General & Internal
Carlotta Scarafia, Martina Masciovecchio, Stefano Canosa, Andrea Roberto Carosso, Gianluca Gennarelli, Alberto Revelli, Chiara Benedetto
Summary: The study found that in women with ovarian endometriosis, ICSI can be performed without harming oocytes or affecting the outcome. Additionally, there is no advantage in removing endometrioma before ICSI.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Yu Han, Lin Zhang, Huimin Tao, Jiebin Wu, Jingfang Zhai
Summary: This article reports a FH pedigree with multiple genetic variants in LDLR, APOB, and EPHX2. A 10-year-old boy in the family presented with multiple skin xanthomas and hypercholesterolemia. Whole exome sequencing confirmed the diagnosis of FH based on clinical features and genetic analysis. Genetic counseling was provided, and the couple decided to continue the pregnancy. The study also found the same LDLR mutation in the boy's sister, but without APOB and EPHX2 variants.
Article
Biochemistry & Molecular Biology
Adeline Germain, Jeanne-Marie Perotin, Gonzague Delepine, Myriam Polette, Gaetan Deslee, Valerian Dormoy
Summary: A comparative whole-exome sequencing analysis was performed on bronchial epithelia from COPD and non-COPD subjects, revealing genetic alterations and copy number variations in remodelled epithelia, mainly in COPD patients. Functional analysis highlighted cilia-associated processes, indicating a greater genetic alteration in remodelled epithelia.
Article
Medicine, Research & Experimental
Hong Lian, Shen Song, Wenzheng Chen, Anteng Shi, Haobin Jiang, Shengshou Hu
Summary: This study aimed to characterize the genetic basis of dilated cardiomyopathy (DCM) in heart transplantation (HTx) patients in the Chinese population. The results showed that TTN and FLNC genes harbored a significant number of pathogenic and likely pathogenic variants, and FLNC truncation could lead to severe clinical symptoms in DCM patients.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Oncology
Lihua Chen, Jiajia Li, Xiaohua Wu, Zhong Zheng
Summary: The study aimed to explore the genomic abnormalities associated with uterine leiomyosarcoma (uLMS) and identify potential therapeutic targets. Analysis revealed mutational heterogeneity of uLMS and highlighted the amplification of the SHARPIN gene as a candidate oncogene in uLMS.
FRONTIERS IN ONCOLOGY
(2021)
Article
Hematology
Yupei Shen, Yan Zhang, Ying Xiong, Zhiping Zhang, Baohua Zhang, Aihong Li, Zhaofeng Zhang, Jing Ding, Jing Du, Yan Che
Summary: This study investigated genetic risk factors for venous thromboembolism (VTE) in pregnant women through a large-scale prospective cohort study. The findings suggest that the presence of known pathogenic variants, damaging variants in thrombophilia genes, and rare damaging variants are associated with VTE in pregnancies. Exome-wide association analysis identified several genes related to basement membranes, sterol accumulation, atherosclerosis, lipid metabolism, and coagulation deficiency as potential mechanisms of VTE in pregnancies.
THROMBOSIS RESEARCH
(2022)
Article
Obstetrics & Gynecology
Antonio Capalbo, Silvia Buonaiuto, Matteo Figliuzzi, Gianluca Damaggio, Laura Girardi, Silvia Caroselli, Maurizio Poli, Cristina Patassini, Murat Cetinkaya, Beril Yuksel, Ajuna Azad, Marie Louise Grondahl, Eva R. Hoffmann, Carlos Simon, Vincenza Colonna, Semra Kahraman
Summary: This study identified new and known genes associated with infertility through case selection and whole-exome sequencing analysis, providing important clues for further research.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Article
Genetics & Heredity
Jian Han, Nana Zhang, Qiqi Cao, Xiaodan Shi, Congjing Wang, Ximan Rui, Jie Ding, Chun Zhao, Junqiang Zhang, Xiufeng Ling, Hong Li, Yichun Guan, Qingxia Meng, Ran Huo
Summary: Successful human reproduction requires normal oocyte maturation, fertilization, and early embryo development. NLRP7 variants were found to be associated with early embryo arrest, and this study identified five heterozygous variants of NLRP7 in infertile patients who experienced early embryo arrest. The study also demonstrated that NLRP7 variants can influence oocyte quality and early embryo development, providing a new genetic marker for clinical early embryo arrest patients.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2023)
Article
Biochemistry & Molecular Biology
Peng-Fei Xu, Cong Li, Shao-Yan Xi, Fu-Rong Chen, Jing Wang, Zhi-Qiang Zhang, Yan Liu, Xin Li, Zhong-Ping Chen
Summary: Branching evolution is widespread in the recurrent process of gliomas, and recurrent tumors continue to evolve independently with chemoradiotherapy, harboring multiple recurrenceselected genetic alterations. Truncal variants within partial driver genes among primary and recurrent gliomas may be ideal therapeutic targets.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2022)
Article
Genetics & Heredity
Ya Liu, Meihua Tan, Luhang Cai, Lihui Lv, Qingqing Chen, Wei Chen, Hang Yang, Yaping Xu
Summary: In this study, whole-exome sequencing was used to investigate the genetic causes of severe-profound hearing loss in Chinese Han children. Several novel genes and variants associated with hearing loss were identified, expanding our understanding of the heterogeneity of hereditary hearing loss.
Article
Genetics & Heredity
Na Li, Wanxue Xu, Huimin Liu, Rui Zhou, Siqi Zou, Shiqing Wang, Siyu Li, Zexin Yang, Yongjun Piao, Yunshan Zhang
Summary: Diminished ovarian reserve (DOR) can be caused by factors other than age, and gene mutation may play a role. This study identified a mutated gene, GPR84(Y370H), through whole exome sequencing, which was found to promote inflammation and potentially contribute to the development of DOR. These findings could provide a preliminary research basis for early molecular diagnosis and treatment selection for DOR.
FRONTIERS IN GENETICS
(2023)
Letter
Obstetrics & Gynecology
Carlos Simon, Maria Ruiz-Alonso, Carlos Gomez, Diana Valbuena
FERTILITY AND STERILITY
(2023)
Article
Oncology
Donovan Chan, Kathleen Oros Klein, Antoni Riera-Escamilla, Csilla Krausz, Cristian O'Flaherty, Peter Chan, Bernard Robaire, Jacquetta M. Trasler
Summary: This study aims to determine the impact of HD and TC and their treatments on sperm DNA methylation. The results show that imprinted gene methylation is not affected in sperm before or after treatment. However, sperm epigenetic defects are still evident in some cancer survivors up to 2 years post-treatment.
CLINICAL EPIGENETICS
(2023)
Review
Medicine, Research & Experimental
Javier Gonzalez Fernandez, Javier Moncayo Arlandi, Ana Ochando, Carlos Simon, Felipe Vilella
Summary: Embryo-maternal cross-talk is crucial for embryo development and implantation, involving secreted factors and extracellular vesicles (EVs). EV cargo influences target cells and prepares them for reproductive stages like embryo development and implantation. Recent research suggests that EVs and their cargo can be used as a powerful, non-invasive tool to assess the quality of embryos and maternal tissues in assisted reproduction treatments. This review focuses on intercellular cross-talk between embryos and maternal tissues, examining human biology and signaling mechanisms identified in animal models.
Article
Obstetrics & Gynecology
Stephanie Bissiere, Blake Hernandez, Carmen Rubio, Carlos Simon, Nicolas Plachta
Summary: Preimplantation development is the stage of human development that can be observed and studied in real time outside the body. This is possible because human embryos can be created using in vitro fertilization and cultured until the blastocyst stage. This article focuses on the cellular and morphogenetic processes that transform a 1-cell embryo into a blastocyst ready for implantation. While most of our understanding of preimplantation human development comes from studying mouse embryos, this article discusses the potential differences in humans and highlights new approaches for studying this process using noninvasive imaging and genetic technologies.
FERTILITY AND STERILITY
(2023)
Article
Obstetrics & Gynecology
Laura Girardi, Matteo Figliuzzi, Maurizio Poli, Munevver Serdarogullari, Cristina Patassini, Silvia Caroselli, Ilaria Pergher, Francesco Cogo, Onder Coban, Fazilet Kubra Boynukalin, Mustafa Bahceci, Roser Navarro, Carmen Rubio, Necati Findikli, Carlos Simon, Antonio Capalbo
Summary: How well can whole chromosome copy number analysis from a single trophectoderm biopsy predict true mosaicism configurations in human blastocysts? When a single trophectoderm biopsy is tested, wide mosaicism thresholds increase false positive calls compared to more stringent ones without improving true detection rate, while binary classification provides the highest diagnostic accuracy.
HUMAN REPRODUCTION
(2023)
Article
Obstetrics & Gynecology
S. Caroselli, M. Figliuzzi, L. Picchetta, F. Cogo, P. Zambon, I Pergher, L. Girardi, C. Patassini, M. Poli, D. Bakalova, D. Cimadomo, N. Findikli, O. Coban, M. Serdarogullari, F. Favero, S. Bortolato, A. Anastasi, F. Capodanno, A. Gallinelli, F. Brancati, L. Rienzi, F. M. Ubaldi, J. Jimenez-Almazan, D. Blesa-Jarque, J. Miravet-Valenciano, C. Rubio, C. Simon, A. Capalbo
Summary: This study developed an integrated genetic testing platform that accurately detects chromosomal abnormalities, including ploidy level and microdeletions, expanding the clinical utility of preimplantation genetic testing.
HUMAN REPRODUCTION
(2023)
Review
Obstetrics & Gynecology
Danilo Cimadomo, Laura Rienzi, Alessandro Conforti, Eric Forman, Stefano Canosa, Federica Innocenti, Maurizio Poli, Jenna Hynes, Laura Gemmell, Alberto Vaiarelli, Carlo Alviggi, Filippo Maria Ubaldi, Antonio Capalbo
Summary: The normal chromosomal constitution determined by PGT-A is the strongest predictor for embryo implantation, but its positive predictive value is limited. The causes of reproductive failure in euploid blastocysts, known as "the black box of implantation," are not well understood.
HUMAN REPRODUCTION UPDATE
(2023)
Article
Cell Biology
Jose Ramon Hernandez Mora, Claudia Buhigas, Stephen Clark, Raquel Del Gallego Bonilla, Dagne Daskeviciute, Ana Monteagudo-Sanchez, Maria Eugenia Poo-Llanillo, Jose Vicente Medrano, Carlos Simon, Marcos Meseguer, Gavin Kelsey, David Monk
Summary: During pre-implantation stages, stored material in mammalian development promotes epigenetic profile erasure and genome activation. Through single-cell methylome and transcriptome sequencing, we analyzed the expression and methylation in oocytes and human embryos, identifying key events in epigenetic reprogramming and genome activation. Failure to achieve these milestones negatively impacts the developmental potential of embryos and may affect the success of assisted reproductive cycles.
Article
Biochemistry & Molecular Biology
Ana Domingo-Muelas, Robin M. Skory, Adam A. Moverley, Goli Ardestani, Oz Pomp, Carmen Rubio, Piotr Tetlak, Blake Hernandez, Eric A. Rhon-Calderon, Luis Navarro-Sanchez, Carmen M. Garcia-Pascual, Stephanie Bissiere, Marisa S. Bartolomei, Denny Sakkas, Carlos Simon, Nicolas Plachta
Summary: Combining fluorescent dyes with live imaging, this study reveals the dynamics of early development in human embryos, including chromosome segregation, compaction, polarization, blastocyst formation, and hatching. The study also shows that blastocyst expansion mechanically affects trophectoderm cells, causing nuclear budding and DNA shedding into the cytoplasm. Moreover, the study suggests that aneuploidies in human embryos may not only result from chromosome segregation errors during mitosis, but also from nuclear DNA shedding.
Article
Obstetrics & Gynecology
Peter Bredbacka, Antonio Capalbo, Kirsi Kananen, Ludovica Picchetta, Candido Tomas
Summary: During IVF treatments, embryos with abnormal pronuclei number are usually not transferred due to increased risks. However, a unique case of transferring a tetrapronuclear-derived embryo resulted in the birth of a healthy infant using targeted next-generation sequencing for preimplantation genetic testing. The infant, now 4 years old, has no apparent health or developmental impairments.
HUMAN REPRODUCTION
(2023)
Article
Urology & Nephrology
Margot J. Wyrwoll, Godfried W. van der Heijden, Csilla Krausz, Kenneth I. Aston, Sabine Kliesch, Robert McLachlan, Liliana Ramos, Donald F. Conrad, Moira K. O'Bryan, Joris A. Veltman, Frank Tuettelmann
Summary: Discovering the genetic causes of non-syndromic male infertility and linking them with clinical data is crucial for better understanding the condition. The International Male Infertility Genomics Consortium has developed a standardized vocabulary based on the Human Phenotype Ontology (HPO) to facilitate communication and improve the classification of male infertility. This work will contribute to the systematic recording of patients' phenotypes and the discovery of novel genetic causes for non-syndromic male infertility.
NATURE REVIEWS UROLOGY
(2023)
Review
Physiology
Inmaculada Moreno, Antonio Capalbo, Aymara Mas, Tamara Garrido-Gomez, Beatriz Roson, Maurizio Poli, Eva Dimitriadis, Xavier Santamaria, Felipe Vilella, Carlos Simon
Summary: Pregnancy is established during the periconceptional period from blastocyst attachment to placenta formation, significantly impacting the health of both the child and the mother. Advances in understanding the periconceptional space, including the preimplantation human embryo and maternal endometrium, offer opportunities for preventative interventions. This review discusses the role of maternal decidua, the maternal-embryonic interface, the endometrial microbiome, and the myometrium in pregnancy health during the periconceptional period.
PHYSIOLOGICAL REVIEWS
(2023)
Review
Andrology
Csilla Krausz, Paulo Navarro-Costa, Martina Wilke, Frank Tuettelmann
Summary: Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is crucial for diagnosing azoospermic and severely oligozoospermic men. This article summarizes recent advances in this field and provides an update on the external quality assessment program offered by the European Academy of Andrology (EAA) and EMQN CIC. The gold-standard method for detecting AZF deletions is a basic multiplex PCR reaction followed by a deletion extension analysis.