Article
Endocrinology & Metabolism
Xue Jiao, Tingting Meng, Yiwei Zhai, Lijuan Zhao, Wei Luo, Peihao Liu, Yingying Qin
Summary: Ovarian reserve indicators deteriorate with the progression of ovarian insufficiency, with an increase in FSH and LH but a decrease in AMH, inhibin B, AFC, E-2 and T. AMH has the highest predictive value for POI, and the combination of AMH and AFC is promising for early prediction. Significant differences exist in hormone status among women with different etiologies of POI, with genetic POI showing the worst hormone status.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Reproductive Biology
Caihong Zheng, Shiwei Liu, Zhihong Qin, Xiaoqian Zhang, Yubao Song
Summary: DLEU1 is found to be overexpressed in POF patients and interacts with miR-146b-5p, leading to increased apoptosis in KGN cells. The direct interaction between DLEU1 and miR-146b-5p was confirmed, but both failed to regulate the expression of each other. DLEU1 promotes cell apoptosis and reduces the inhibitory effects of miR-146b-5p on cell apoptosis.
JOURNAL OF OVARIAN RESEARCH
(2021)
Article
Endocrinology & Metabolism
Jingyi Wen, Yanzhi Feng, Wei Yan, Suzhen Yuan, Jinjin Zhang, Aiyue Luo, Shixuan Wang
Summary: This study reveals the characteristics of vaginal microbiota in POI patients and their relationship with reduced ovarian reserve, endocrine disruption, and symptoms of perimenopausal syndrome. Differences in vaginal microbiota between POI and POF patients are also identified.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Medicine, General & Internal
Xu Yang, Lin Yang
Summary: Premature ovarian failure (POF) is a devastating condition for women that causes female infertility. It has a strong familial and heterogeneous genetic background. Recent research has provided new insights into the genomic variation and pathogenic mechanisms of POF, which is crucial for early diagnosis and treatment.
FRONTIERS IN MEDICINE
(2023)
Review
Cell Biology
Jing Wang, Wanru Liu, Dehai Yu, Zongxing Yang, Sijie Li, Xiguang Sun
Summary: Premature ovarian failure is a major cause of infertility in women of childbearing age. Hormone replacement therapy is commonly used to alleviate symptoms, but stem cell transplantation has emerged as a promising research area for restoring ovarian function and fertility in affected patients.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Cell Biology
Chengzi Huang, Ting Guo, Yingying Qin
Summary: POI is the early depletion of ovarian function before 40 years of age due to various causes, including genetic factors and unknown reasons. Advances in next-generation sequencing have expanded the genetic spectrum of POI, particularly in identifying genes related to meiosis and DNA repair. Understanding the genetic architecture of POI can help predict risks, protect ovarian function, and intervene early for affected women.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Cell & Tissue Engineering
Oldouz Shareghi-oskoue, Leili Aghebati-Maleki, Mehdi Yousefi
Summary: Premature ovarian failure (POF) is a problem for women before the age of 40, characterized by symptoms such as amenorrhea and low estrogen levels. The current treatment approach involves stem cell therapy, particularly HUCMSC transplantation, which has shown to effectively improve ovarian function and treat infertility.
STEM CELL RESEARCH & THERAPY
(2021)
Article
Environmental Sciences
Charles S. da Costa, Thiago F. Oliveira, Leandro C. Freitas-Lima, Alessandra S. Padilha, Maiara Krause, Maria Tereza W. D. Carneiro, Breno S. Salgado, Jones B. Graceli
Summary: This study evaluated the effects of cadmium exposure on the HPG axis and various abnormalities in female rats, finding that cadmium exposure led to metabolic and reproductive dysfunctions, indicating that cadmium disrupts HPG axis function, leading to features of PCOS and POF.
ENVIRONMENTAL POLLUTION
(2021)
Article
Genetics & Heredity
Yuchi Zhang, Dongwei Han, Xiaoyan Yu, Xinyu Shao, Chuju Zong, Manyu Zhang, Junzhi Wang, Jingwen Liang, Pengling Ge
Summary: This study identified miRNA-190a-5p as a potential biomarker for early screening of premature ovarian failure (POF) and demonstrated its role in continuously activating rat primordial follicles by targeting the expression of PHLPP1 and key proteins in the AKT-FOXO3a and AKT-LH/LHR pathways.
FRONTIERS IN GENETICS
(2022)
Review
Immunology
Eusebio S. Pires, Firuza R. Parikh
Summary: There has been a paradigm shift in the status of immunoassays, from having a limited role in clinical medicine to playing a central role in understanding and treating human diseases. However, there is conflicting literature on the immunoassay testing for anti-ovarian antibodies.
AMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY
(2023)
Review
Anatomy & Morphology
Mingming Gao, Zhaoer Yu, Dan Yao, Yating Qian, Qi Wang, Ruizhe Jia
Summary: Reproductive disorders such as intrauterine adhesions and premature ovarian failure have been long-standing issues for women worldwide. The use of various mesenchymal stem cells in treating these conditions shows promising results, but faces challenges in terms of safety, cost, and manufacturing for extensive clinical applications.
Article
Endocrinology & Metabolism
Xudong Zhang, Yimeng Lu, Shanshan Wu, Xinyang Zhao, Shuyu Li, Siwen Zhang, Jichun Tan
Summary: This study conducted a bibliometric analysis of primary ovarian insufficiency (POI) related literature, and found that significant progress has been made in POI research over the past 20 years, but unevenly developed globally. The United States may lead in POI research influence. Research hotspots mainly focus on pathogenesis and treatment, including genetic mutation, hormone therapy, fertility preservation, and stem cell transplantation.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Dong Hou, Chencheng Yao, Bingying Xu, Wei Luo, Hanni Ke, Zheng Li, Yingying Qin, Ting Guo
Summary: This study identified novel pathogenic variations of C14ORF39 and SYCE1 in sporadic patients with POI or NOA, highlighting the essential role of SC genes in the maintenance of ovarian and testicular function.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Oncology
Libin Mei, Lingling Huang, Yanru Huang, Xiaoling Wu, Huang He, Xuemei He, Zhiying Su, Ping Li
Summary: This study investigated the clinical manifestations and genetic features of a Chinese patient with POI and identified two novel compound heterozygous mutations related to the disease. These findings provide further insight into the mechanisms of POI and female infertility.
MOLECULAR MEDICINE REPORTS
(2022)
Review
Medicine, General & Internal
Han-Zhi Zhong, Mao-Ya Li, Xiao-Lan Yin, Cheng-Li Bin, Si-Yun Zhou, Shao-Bin Wei
Summary: This study compared the efficacy differences between Chinese patent medicines combined with hormone replacement therapy (HRT) in the treatment of premature ovarian failure (POF) using Bayesian network meta-analysis (NMA). The results showed that Chinese patent medicines combined with HRT were more effective than HRT alone in treating POF. Zuogui pills were effective in decreasing follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels and improving the total clinical response rate. Xuefu Zhuyu capsule was also effective in reducing FSH levels. Ziheche capsule was proficient in improving estradiol levels, while Kuntai capsule had the lowest incidence of adverse reactions. However, the quality of the included literature was relatively low, and further high-quality multicenter trials are needed to support these findings.
FRONTIERS IN MEDICINE
(2022)
Article
Endocrinology & Metabolism
Lucie Renault, Liliana C. Patino, Francoise Magnin, Brigitte Delemer, Jacques Young, Paul Laissue, Nadine Binart, Isabelle Beau
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2020)
Review
Peripheral Vascular Disease
Paul Laissue, Daniel Vaiman
CURRENT HYPERTENSION REPORTS
(2020)
Review
Obstetrics & Gynecology
Paula Quintero-Ronderos, Paul Laissue
REPRODUCTIVE SCIENCES
(2020)
Article
Pharmacology & Pharmacy
Carlos Alberto Calderon-Ospina, Jubby Marcela Galvez, Claudia Lopez-Cabra, Natalia Morales, Carlos Martin Restrepo, Jesus Rodriguez, Fabio Ancizar Aristizabal-Gutierrez, Alberto Velez-van-Meerbek, Paul Laissue, Dora Janeth Fonseca-Mendoza
FRONTIERS IN PHARMACOLOGY
(2020)
Article
Genetics & Heredity
Maeva Elzaiat, Delphine Flatters, Diana Carolina Sierra-Diaz, Berangere Legois, Paul Laissue, Reiner A. Veitia
Article
Multidisciplinary Sciences
Aurelien Ducat, Betty Couderc, Anthony Bouter, Louise Biquard, Rajaa Aouache, Bruno Passet, Ludivine Doridot, Marie-Benoite Cohen, Pascale Ribaux, Clara Apicella, Irene Gaillard, Sophia Palfray, Yulian Chen, Alexandra Vargas, Amelie Jule, Leo Frelin, Julie Cocquet, Camino Ruano San Martin, Sebastien Jacques, Florence Busato, Jorg Tost, Celine Mehats, Paul Laissue, Jean-Luc Vilotte, Francisco Miralles, Daniel Vaiman
Article
Obstetrics & Gynecology
Karen Marcela Jimenez, Adrien Morel, Laura Parada-Nino, Maria Alejandra Gonzalez-Rodriguez, Stephanie Florez, David Bolivar-Salazar, Silvia Becerra-Bayona, Angel Aguirre-Garcia, Tatiana Gomez-Murcia, Luisa Fernanda Castillo, Carolina Carlosama, Javier Ardila, Daniel Vaiman, Norma Serrano, Paul Laissue
PREGNANCY HYPERTENSION-AN INTERNATIONAL JOURNAL OF WOMENS CARDIOVASCULAR HEALTH
(2020)
Article
Genetics & Heredity
Irene Peral-Sanchez, Batoul Hojeij, Diego A. Ojeda, Regine P. M. Steegers-Theunissen, Sandrine Willaime-Morawek
Summary: This review examines the relationship between non-communicable diseases, environmental exposures, and lifestyle behaviors, focusing on the impact of poor maternal diet on embryonic development and epigenetic modifications. Various types of nutritional stressors and their effects on target genes and outcomes are discussed, as well as the relationship between maternal diets and assisted reproductive technology.
Article
Genetics & Heredity
Paula Triana-Fonseca, Juan Fernando Parada-Marquez, Claudia Silva-Aldana, Daniela Zambrano-Arenas, Laura Lucia Arias-Gomez, Natalia Morales-Fonseca, Esteban Medina-Mendez, Carlos M. Restrepo, Daniel Felipe Silgado-Guzman, Dora Janeth Fonseca-Mendoza
Summary: The study characterized the mutational profile of the dystrophin gene in Colombian patients with DMD/BMD, with large deletions/duplications being the most common type of genetic variation. Point mutations, small deletions, and new mutations were also identified in the affected patients. The findings contribute to efforts in identifying molecular variants in Latin American populations and establishing appropriate genetic counseling and potential treatments.
APPLICATION OF CLINICAL GENETICS
(2021)
Meeting Abstract
Oncology
Diana Carolina Sierra-Diaz, Adrien Morel, Dora Janeth Fonseca, Nora Contreras, Mariana Angulo-Aguado, Valentina Balaguera, Kevin Llinas-Caballero, Isabel Munevar, Mariana Borras, Mauricio Lema, Henry Idrobo, Daniela Trujillo, Norma Serrano, Ana Isabel Orduz, Diego Lopera, Jaime Gonzalez, Gustavo Rojas, Paula Londono, Ray Manneh, Catalina Quintero, Paul Laissue, Rodrigo Cabrera, Carlos M. Restrepo, William Mantilla
Article
Genetics & Heredity
Liliana Elizabeth Rodriguez-Salgado, Claudia Tamar Silva-Aldana, Esteban Medina-Mendez, Jose Bareno-Silva, Mauricio Arcos-Burgos, Daniel Felipe Silgado-Guzman, Carlos M. Restrepo
Summary: This study aimed to determine the prevalence of secondary findings (SF) in a Colombian population for 59 genes associated with 27 genetic diseases. The results showed that 8.13% of patients had pathogenic variants in 11 genes. No association was found between socio-demographic variables and the need to report SF. This study provides the first approach to the spectrum of actionable pathogenic variants in the Colombian population.
Article
Clinical Neurology
Diego A. Ojeda, Oliver Hutton, Robert Hopkins, Felino Cagampang, Neil R. Smyth, Tom P. Fleming, Judith Eckert, Sandrine Willaime-Morawek
Summary: Maternal high-fat diet during the preimplantation period or throughout pregnancy and lactation, without obesity, leads to changes in metabolic-related parameters and hippocampal neurogenesis and glial density in the adult offspring mice.
BRAIN COMMUNICATIONS
(2023)
Article
Genetics & Heredity
Camilo Andres Velandia-Piedrahita, Adrien Morel, Dora Janeth Fonseca-Mendoza, Victor Manuel Huertas-Quinones, David Castillo, Juan Diego Bonilla, Camilo Jose Hernandez-Toro, Marta Catalina Miranda-Fernandez, Carlos Martin Restrepo, Rodrigo Cabrera
APPLICATION OF CLINICAL GENETICS
(2020)
Article
Pharmacology & Pharmacy
Carlos Alberto Calderon-Ospina, Mario Hernandez-Somerson, Ana Maria Garcia, Adriana Mejia, Caroll Tamayo-Agudelo, Paul Laissue, Dora Janeth Fonseca Mendoza
PHARMACOGENOMICS & PERSONALIZED MEDICINE
(2020)
