Article
Endocrinology & Metabolism
Jing Lin, Wei Gu, Hefeng Huang
Summary: Maternal obesity is significantly associated with an increased risk of fetal growth restriction, gestational diabetes, and pre-eclampsia. This study investigated the impact of paternal obesity on fetal development and pregnancy complications. The results showed that paternal obesity was associated with a higher incidence of preeclampsia, cesarean section, small for gestational age infants, macrosomia, and postpartum hemorrhage. Paternal obesity also influenced fetal ultrasound measurements and placental weight. The interaction between paternal obesity and maternal obesity on the risk of small for gestational age and macrosomia was significant. These findings highlight the importance of optimizing paternal BMI in order to improve pregnancy outcomes and the health of the next generation.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Reproductive Biology
Genevieve Boom, Justin M. O'Sullivan, William Schierding
Summary: Preeclampsia is a common and severe pregnancy disorder characterized by hypertension and usually proteinuria. Genome-wide association studies have identified risk loci single nucleotide polymorphisms associated with preeclampsia, hypertension, and proteinuria. By analyzing the target genes and pathways, shared functional impacts between preeclampsia and hypertension were identified, providing clues for shared therapeutic targets.
BIOLOGY OF REPRODUCTION
(2023)
Article
Obstetrics & Gynecology
Tamara Sljivancanin Jakovljevic, Olivera Kontic-Vucinic, Nadja Nikolic, Jelena Carkic, Jelena Stamenkovic, Ivan Soldatovic, Jelena Milasin
Summary: -786 T/C and VNTR 4b/a eNOS gene polymorphisms are associated with the risk of preeclampsia in Serbian patients. Homozygotes for VNTR polymorphism have a higher risk of developing preeclampsia.
REPRODUCTIVE SCIENCES
(2021)
Article
Genetics & Heredity
Kieran Samuk, Mohamed A. F. Noor
Summary: Accurate estimation of recombination rate is crucial for evolutionary research. Current linkage disequilibrium-based methods make simplifying assumptions and gene flow can affect the accuracy of recombination rate estimation, resulting in overestimation or underestimation of recombination rates, as well as incorrect detection of interpopulation differences in recombination rate.
G3-GENES GENOMES GENETICS
(2022)
Article
Cell & Tissue Engineering
Gal Keshet, Shiran Bar, Roni Sarel-Gallily, Ofra Yanuka, Nissim Benvenisty, Talia Eldar-Geva
Summary: This study investigates the relative contribution of parental genomes during human development, particularly focusing on whether the formation of the reproductive gonad depends on equal contribution from both parents. The researchers find that compared to biparental and androgenetic cells, parthenogenetic cells have a reduced ability to differentiate into ovarian granulosa-like cells (GLCs). They also identify the paternally expressed gene IGF2 as being highly upregulated during differentiation, and that the differentiation of parthenogenetic cells can be partly rescued by supplementing them with IGF2.
Review
Biochemistry & Molecular Biology
Minyan Lu, Jinyi Nie, Hexin Shen, Wenzhi Jiao, Zhiyu Men, Ye Meng, Hanzhang Xu, Liyan Zhu, Xiaoqin Yang, Shangshang Gao
Summary: A comprehensive literature search and meta-analysis were conducted to investigate the association between FOXP3 gene rs2232365 and rs3761548 polymorphisms and preeclampsia risk. The results showed a significant association between rs3761548 polymorphism and preeclampsia susceptibility, particularly in the West-South Asian population. In contrast, rs2232365 was not found to be a protective or risk factor for preeclampsia onset in both overall population and East Asian subgroup.
Review
Biochemistry & Molecular Biology
Kelsey Stuart, Louis R. Pasquale, Jae H. Kang, Paul J. Foster, Anthony P. Khawaja
Summary: Glaucoma is a complex human disease with genetic and environmental determinants. Population-based cohorts and biobanks have accelerated research on the disease's etiology. Genome-wide association studies have enhanced our understanding of the genetic architecture, while epidemiological studies have identified environmental risk factors. Gene-environment interactions play a significant role in glaucoma and have implications for diagnostics and therapeutics in the future.
MOLECULAR ASPECTS OF MEDICINE
(2023)
Article
Pediatrics
Timur Azhibekov, Razaq Durodoye, Anna K. K. Miller, Claire L. L. Simpson, Robert L. L. Davis, Scott M. M. Williams, Leslie A. A. Bruggeman
Summary: In women of African ancestry, polymorphisms in the APOL1 gene are linked to the risk of preeclampsia. High-risk APOL1 genotypes in full-term infants are associated with an increased likelihood of being small for gestational age. In preterm pregnancies, fetal APOL1 genotype is associated with preeclampsia.
Review
Developmental Biology
Afsaneh Khoshkerdar, Ece Eryasar, Hannah L. Morgan, Adam J. Watkins
Summary: Pregnancy involves dramatic physiological changes in the mother's cardiovascular, metabolic, and immune systems, affecting the development of the embryo, placenta, and fetus. Impairments in maternal adaptation may lead to gestational disorders, impacting the health of both the mother and her offspring. While maternal lifestyle factors are well-studied, the influence of a father's lifestyle on the mother's well-being during pregnancy remains less explored.
Article
Genetics & Heredity
Jasleen Dhaliwal, Ying Qiao, Kristina Calli, Sally Martell, Simone Race, Chieko Chijiwa, Armansa Glodjo, Steven Jones, Evica Rajcan-Separovic, Stephen W. Scherer, Suzanne Lewis
Summary: In a family with three affected children, multiple inherited DNA variants in ASD-associated genes and pathways were identified via whole-genome sequencing. Some of these variants, particularly in RELN and SHANK2, are considered major risk factors for ASD in this family due to their involvement in neuron activities related to ASD pathogenesis. The study suggests that these rare variants may converge to certain pathways and contribute quantitatively and/or via multiple-hits to the pathogenicity of ASD.
Review
Developmental Biology
Yohaan Fernandes, C. Ben Lovely
Summary: Fetal alcohol spectrum disorder (FASD) encompasses a wide range of structural deficits and cognitive impairments, affecting up to 5% of children born in the United States annually. Studies in humans are limited, but animal models, particularly zebrafish, have been crucial in identifying and characterizing the mechanisms of FASD. Zebrafish's genetic amenability and transparency make it an ideal model to study the gene-ethanol interactions underlying FASD, offering valuable insights into potential diagnosis and treatment methods.
Article
Obstetrics & Gynecology
Enrrico Bloise, Jianhong Zhang, Jittanan Nakpu, Hirotaka Hamada, Caroline E. Dunk, Siliang Li, Guinever E. Imperio, Lubna Nadeem, Mark Kibschull, Phetcharawan Lye, Stephen G. Matthews, Stephen J. Lye
Summary: The study aims to investigate the expression pattern of specific severe acute respiratory syndrome coronavirus 2 cell entry genes, angiotensin-converting enzyme 2 and transmembrane protease serine 2, in the placenta across human pregnancy and in paired samples of decidua and placenta in pregnancies complicated by preterm birth or preeclampsia compared with those in term uncomplicated pregnancies. The increased expression of these genes in the placenta in the first trimester of pregnancy compared with later stages suggests differential susceptibility to placental entry of SARS-CoV-2 across pregnancy.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2021)
Article
Obstetrics & Gynecology
Anna E. Bauer, Christy L. Avery, Min Shi, Clarice R. Weinberg, Andrew F. Olshan, Quaker E. Harmon, Jingchun Luo, Jenny Yang, Tracy Manuck, Michael C. Wu, Kari Klungsoyr, Lill Trogstad, Per Magnus, Stephanie M. Engel
Summary: Maternal smoking is associated with a 50% reduced risk of preeclampsia but increased risk of other poor pregnancy outcomes. Researchers investigated whether smoking-response genes modify the smoking-preeclampsia association. Limited evidence of gene-smoking interaction was found, but differences by smoking cessation warrant further investigation.
AMERICAN JOURNAL OF PERINATOLOGY
(2021)
Review
Biotechnology & Applied Microbiology
Nadav Brandes, Omer Weissbrod, Michal Linial
Summary: This review discusses the problems in genetic studies of human traits, focusing on population structure, epistasis, gene-environment interactions, ancestry diversity, rare genetic variants, heritability estimates, genetic association studies, and polygenic risk scores. It suggests promising avenues to address these interconnected problems.
Review
Oncology
Spyridon Marinopoulos, Constantine Dimitrakakis, Andreas Kalampalikis, Flora Zagouri, Angeliki Andrikopoulou, Alexandros Rodolakis
Summary: This review aims to summarize the current literature on breast cancer in the elderly, providing specific approaches and recommendations for prompt diagnosis, treatment, and management. It emphasizes the importance of establishing applicable protocols, conducting a careful geriatric assessment, and considering patient preferences in the standard of care.
Review
Gastroenterology & Hepatology
Adriana Psaraki, Lydia Ntari, Christos Karakostas, Despoina Korrou-Karava, Maria G. Roubelakis
Summary: Liver dysfunctions are often treated with liver transplantation, but a new concept in therapy involves using extracellular vesicles secreted by mesenchymal stem cells to overcome limitations and promote liver repair. Studies have shown that these vesicles have the potential to ameliorate systemic inflammation and positively impact various pathways associated with liver diseases.
Article
Multidisciplinary Sciences
Maria Magkana, Panagiota Mentzelopoulou, Ekaterini Magkana, Andreas Pampanos, Georgios Daskalakis, Ekaterini Domali, Alexandros Rodolakis, Kalliopi Pappa
Summary: The study found that p16/ki-67 dual stain is a safe and rapid assay with high sensitivity and specificity in detecting CIN2+ among women with mild cervical lesions. It could potentially reduce the psychological and economic burden of HPV screening.
Article
Oncology
Maria Magkana, Panagiota Mentzelopoulou, Ekaterini Magkana, Andreas Pampanos, Nikolaos Vrachnis, Eleni Kalafati, Georgios Daskalakis, Ekaterini Domali, Nikolaos Thomakos, Alexandros Rodolakis, Nicholas P. Anagnou, Kalliopi Pappa
Summary: p16/Ki-67 dual staining is a highly efficient method for risk stratification of women with mild cervical abnormalities, which can reduce the number of colposcopies required.
ANTICANCER RESEARCH
(2022)
Review
Oncology
Eleni Kalafagi, Eleni Papanikolaou, Evangelos Marinos, Nicholas P. Anagnou, Kalliopi I. Pappa
Summary: The Mimivirus is a giant virus that infects amoebae and has distinctive characteristics, such as large viral particles and replication process without entering the nucleus. Although their existence is undeniable, there is still uncertainty concerning their pathogenicity mechanisms in humans and the nature of their immune network.
MOLECULAR MEDICINE REPORTS
(2022)
Article
Oncology
Rafael Stroggilos, Maria Frantzi, Jerome Zoidakis, Marika Mokou, Napoleon Moulavasilis, Emmanouil Mavrogeorgis, Anna Melidi, Manousos Makridakis, Konstantinos Stravodimos, Maria G. Roubelakis, Harald Mischak, Antonia Vlahou
Summary: This study leveraged large-scale transcriptomic data of bladder cancer to analyze the monotonic changes in genes and processes related to clinical and pathological stages. The findings revealed tumor dependencies on specific cell-cycle and metabolic processes, and proposed an eight-gene signature that can predict the prognosis of bladder cancer.
Review
Cell Biology
Christina Nikokiraki, Adriana Psaraki, Maria G. Roubelakis
Summary: The liver is the most important metabolic organ in the human body, and an imbalance in liver function can lead to liver failure. Orthotropic liver transplantation is the most effective treatment for end-stage liver diseases and acute liver failure, but stem-cell-based therapies are being developed as alternative solutions due to limitations. Stem cells derived from various sources have the potential to differentiate into liver-like cells and liver progenitor cells, which can be used for research and treatment of liver diseases.
Review
Obstetrics & Gynecology
Anastasia Prodromidou, Evangelia Dimitroulia, Depy Mavrogianni, Nikolaos Kathopoulis, Kalliopi Pappa, Dimitrios Loutradis
Summary: A significant number of single-nucleotide polymorphisms (SNPs) of the follicle-stimulating hormone receptor (FSHr) can modify the response to exogenous FSH administration. The Asn680Ser allelics of FSHr are related to the response to controlled ovarian stimulation (COS). However, there is currently no strong evidence supporting the use of single gene examination to improve COS, but polygenic analysis could be useful.
REPRODUCTIVE SCIENCES
(2023)
Review
Cell Biology
Elena Konstantina Siapati, Maria G. Roubelakis, George Vassilopoulos
Summary: The liver has high regenerative capacity, but chronic inflammation and fibrosis caused by various insults can lead to irreversible liver dysfunction. Cell therapy and stem cell transplantation have shown promising results in liver disease treatment, but the underlying mechanisms are still under investigation.
Review
Biotechnology & Applied Microbiology
Michela Pozzobon, Stefania D'Agostino, Maria G. G. Roubelakis, Anna Cargnoni, Roberto Gramignoli, Susanne Wolbank, Florelle Gindraux, Sveva Bollini, Halima Kerdjoudj, Mathilde Fenelon, Roberta Di Pietro, Mariangela Basile, Veronika Borutinskaite, Roberta Piva, Andreina Schoeberlein, Guenther Eissner, Bernd Giebel, Peter Ponsaerts
Summary: Perinatal tissues contain various types of stem cells that have the potential for regenerative therapies. This review summarizes the therapeutic approaches using perinatal derivatives (PnD) products and discusses the importance of validating their therapeutic efficacy and the concept of PnD application in tissue regeneration.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Hector Katifelis, Eirini Filidou, Adriana Psaraki, Farinta Yakoub, Maria G. Roubelakis, Gesthimani Tarapatzi, Stergios Vradelis, Giorgos Bamias, George Kolios, Maria Gazouli
Summary: This study investigates the potential anti-inflammatory effects of secretome and exosomes derived from amniotic fluid mesenchymal stem/stromal cells on LPS-induced inflammation in an in vitro model of IBD. The results demonstrate that both secretome and exosomes derived from these cells can reduce the severity of LPS-induced inflammation by decreasing the expression of pro-inflammatory genes and increasing the expression of anti-inflammatory genes.
Article
Cell Biology
Savvia Pittokopitou, Despina Mavrogianni, Vasilios Pergialiotis, Kalliopi I. Pappa, Panagiotis Antsaklis, Marianna Theodora, Michail Sindos, Angeliki Papapanagiotou, Aikaterini Domali, Sofoklis Stavros, Peter Drakakis, George Daskalakis
Summary: This study aimed to determine the expression of stemness markers in cytological specimens collected from women with cervical insufficiency during the second trimester of pregnancy and women with normal cervical length. The results showed higher expression of OCT-4 and NANOG in the cervical insufficiency group compared to the control group, while the difference in the DAZL gene was not significant. Additionally, a moderate correlation was found between OCT-4 and Nanog with cervical length. These findings suggest that enhanced activity of stemness biomarkers among pregnant women diagnosed with cervical insufficiency may predispose them to cervical insufficiency, but further validation in larger populations is needed.
Review
Pediatrics
George Daskalakis, Alexandros Psarris, Antonios Koutras, Zacharias Fasoulakis, Ioannis Prokopakis, Antonia Varthaliti, Christina Karasmani, Thomas Ntounis, Ekaterini Domali, Marianna Theodora, Panos Antsaklis, Kalliopi I. Pappa, Angeliki Papapanagiotou
Summary: Preterm birth, a major public health concern worldwide, is the leading cause of neonatal morbidity and mortality. This review analyzes the association between infections and premature birth. Intrauterine infection/inflammation is commonly associated with spontaneous preterm birth. Inflammation-induced overproduction of prostaglandins can lead to uterine contractions and contribute to preterm delivery. Various pathogens, including Chlamydia trachomatis, Neisseria gonorrhoeae, Trichomonas vaginalis, Gardnerella vaginalis, Ureaplasma urealyticum, Mycoplasma hominis, Actinomyces, Candida spp., and Streptococcus spp., have been implicated in premature delivery, chorioamnionitis, and neonatal sepsis. Further research is needed to develop effective preventive methods and reduce neonatal morbidity.
Review
Medicine, General & Internal
Ioakeim Sapantzoglou, Angeliki Rouvali, Antonios Koutras, Maria Ioanna Chatziioannou, Ioannis Prokopakis, Zacharias Fasoulakis, Eleftherios Zachariou, Athanasios Douligeris, Anastasia Mortaki, Paraskevas Perros, Thomas Ntounis, Vasilios Pergialiotis, Ekaterini Domali, Stavros Athanasiou, George Daskalakis, Alexandros Rodolakis, Periklis Panagopoulos, Kalliopi I. I. Pappa
Summary: Twin pregnancies have a higher risk of developing PE compared to singletons, and the sFLT1/PIGF ratio is strongly associated with PE, adverse pregnancy outcomes, and timing of delivery. This systematic review aimed to summarize the data on sFLT1, PlGF, and their ratios in twin pregnancies and investigate their association with PE development, adverse pregnancy outcomes, and timing of delivery. The review found that sFLT1 levels and the sFLT1/PIGF ratio were higher in twins, especially in the third trimester, while PlGF levels were higher before the third trimester and then showed no difference or were even lower than in singletons. The sFLT1/PIGF ratio is an independent marker of adverse outcomes and is inversely associated with the mean time until delivery. Further research is needed to establish optimal sFLT1/PIGF cut-off values and stratify the risk in twin pregnancies.
MEDICINA-LITHUANIA
(2023)
Meeting Abstract
Cell & Tissue Engineering
A. Psaraki, M. Makridakis, A. Stamatopoulou, F. Korkida, Z. Dorezi, K. Georgila, R. Gramignoli, S. Sakellariou, M. Xilouri, A. G. Eliopoulos, A. Vlahou, M. G. Roubelakis
