Article
Biology
Stephanie Springer, Eva Karner, Christof Worda, Maria Magdalena Grabner, Elisabeth Seidl-Mlczoch, Franco Laccone, Juergen Neesen, Anke Scharrer, Barbara Ulm
Summary: This retrospective cohort study evaluated pregnancies complicated by fetal congenital heart disease (CHD) and trisomies 13, 18, and 21. The study found a high rate of pregnancy termination among affected families, but relatively higher livebirth and survival rates among infants with trisomy 21.
Article
Pediatrics
Diaa Zugayar, Reuven Berkovits, Ariel Tenenbaum, Eldad Erez, Dan Arbell, Benjamin Z. Koplewitz
Summary: Morgagni hernias are rare in congenital diaphragmatic hernias, with a specific pattern of retrosternal and bilateral hernias. Trisomy 21 has been associated with diaphragmatic hernias resembling Morgagni hernia, but the impact of cardiac surgery on its occurrence is unknown. This study aimed to investigate the incidence of anterior diaphragmatic hernias in Trisomy 21 children after cardiac surgery.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Biology
Cayla E. Jewett, Bailey L. McCurdy, Eileen T. O'Toole, Alexander J. Stemm-Wolf, Katherine S. Given, Carrie H. Lin, Valerie Olsen, Whitney Martin, Laura Reinholdt, Joaquin M. Espinosa, Kelly D. Sullivan, Wendy B. Macklin, Rytis Prekeris, Chad G. Pearson
Summary: Trisomy 21 disrupts primary cilia formation and function through elevated Pericentrin, which affects MyosinVA and EHD1 localization and delays ciliary membrane delivery and mother centriole uncapping. Trisomy 21 cells eventually ciliate, but demonstrate persistent trafficking defects that decrease sonic hedgehog signaling in correlation with Pericentrin levels. Elevated Pericentrin in a mouse model of Down syndrome results in fewer primary cilia and thinner granular layers in the cerebellum, consistent with the neurological phenotypes of individuals with Down syndrome.
Article
Genetics & Heredity
Jakob Schuy, Jesper Eisfeldt, Maria Pettersson, Niloofar Shahrokhshahi, Mohsen Moslem, Daniel Nilsson, Niklas Dahl, Mansoureh Shahsavani, Anna Falk, Anna Lindstrand
Summary: Using induced pluripotent stem cells (iPSCs) from patients, researchers investigated the effects of partial monosomy on neural cells. RNA-Seq analysis revealed downregulation of multiple genes within the deleted region and global transcriptional dysregulation. A comparison with trisomy 21 cell lines showed opposite expression changes for genes on chromosome 21 and non-chromosome 21 genes.
FRONTIERS IN GENETICS
(2022)
Article
Pharmacology & Pharmacy
R. -X Song, R. Wang, G. -S Miao, H. Dong
Summary: This study aimed to investigate the neurotoxicity of sevoflurane on fetal mice brain as well as the neuroprotective effects of dexmedetomidine. The results showed that maternal sevoflurane exposure inhibited neurogenesis and precocious generation of astrocytes in fetal mice brains. Chronic dexmedetomidine administration minimized the negative effects caused by sevoflurane by activating the Wnt signaling pathway.
EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
(2023)
Article
Pharmacology & Pharmacy
R. -X. Song, R. Wang, G. -S. Miao, H. Dong
Summary: The objective of this study was to investigate the neurotoxicity of sevoflurane to fetal mice brain and the neuroprotective effects of dexmedetomidine. The results showed that maternal sevoflurane exposure inhibited neurogenesis and led to precocious generation of astrocytes in fetal mice brains. Chronic dexmedetomidine administration minimized the negative effects caused by sevoflurane by activating the Wnt signaling pathway.
EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
(2023)
Review
Cardiac & Cardiovascular Systems
Xiaolei Liu, Guillermo Oliver
Summary: In recent years, the lymphatic system has gained increasing attention for its novel functional roles in health and disease. The lymphatic vasculature plays important roles in tissue-fluid balance, the immune response, and lipid absorption. Recent studies have discovered new and unexpected functional roles of the lymphatic vasculature in normal and pathological conditions, particularly in cardiac development and diseases. This review explores these novel roles and the potential therapeutic applications of targeting lymphatics for cardiovascular diseases.
CIRCULATION RESEARCH
(2023)
Review
Obstetrics & Gynecology
M. D. Kilby
Summary: This paper reviews the role of NGS in investigating fetal malformations, emphasizing the importance of prospective case selection and informative pre-test counseling, as well as the crucial role of regulated laboratory sequencing and bioinformatic pathways in clinical practice.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2021)
Article
Obstetrics & Gynecology
Jing Li, Fuli Zhang, Bo Sun, Shanjun Dai, Qingling Yang, Linli Hu, Hao Shi, Jiawei Xu, Wenbin Niu, Yihong Guo
Summary: Frozen blastocyst transfer in women aged 35 years or older and frozen embryo transfer (ET) in women aged <35 years are associated with decreased frequencies of embryonic chromosomal abnormalities in miscarried products of conception.
HUMAN REPRODUCTION
(2021)
Review
Cardiac & Cardiovascular Systems
Konstantinos Klaourakis, Joaquim M. Vieira, Paul R. Riley
Summary: The lymphatic vasculature in the heart plays a crucial role in maintaining normal fluid balance and inflammatory response. Macrophages are important for cardiac development and tissue repair after myocardial infarction. Recent research on mammalian and zebrafish models has provided new insights into the interactions between cardiac lymphatics and macrophages. Targeting the cardiac lymphatic system could be a potential therapeutic approach for regulating immune response and reducing inflammation in patients with ischemic heart disease.
NATURE REVIEWS CARDIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Angelika Buczynska, Iwona Sidorkiewicz, Anna Trochimiuk, Slawomir Lawicki, Adam Jacek Kretowski, Monika Zbucka-Kretowska
Summary: Research suggests that evaluating novel prenatal screening biomarkers using advanced technology may improve the diagnostic accuracy of biochemical prenatal screening for Trisomy 21, while potentially uncovering new potential medical targets.
Article
Genetics & Heredity
Pascale Kleinfinger, Armelle Luscan, Lea Descourvieres, Daniela Buzas, Aicha Boughalem, Stephane Serero, Mylene Valduga, Detlef Trost, Jean-Marc Costa, Alexandre J. Vivanti, Laurence Lohmann
Summary: This study describes the experience of using noninvasive prenatal testing (NIPT) in a large population of vanishing twin (VT) pregnancies, and finds that it is an effective screening method for trisomy 21 in surviving fetuses. However, caution should be exercised when interpreting positive results for trisomies 18 and 13, and ultrasound monitoring is preferable over invasive diagnostic testing.
Article
Clinical Neurology
Megumi Shiota, Keisuke Ito, Yuri Shirato, Nanako Takase, Kentaro Sano, Shota Yuasa, Jun-ichi Takanashi
Summary: This article reports the findings of two trisomy 18 patients who showed absence of the internal carotid artery on one side. The other arteries in the affected individuals were supplied by different arteries. This suggests a possible association between internal carotid artery absence and chromosomal abnormalities.
BRAIN & DEVELOPMENT
(2022)
Article
Multidisciplinary Sciences
Sunyoung Hwang, Paola Cavaliere, Rui Li, Lihua Julie Zhu, Noah Dephoure, Eduardo M. Torres
Summary: The study reveals that mRNA and protein levels are increased by 1.5-fold on average in trisomy 21 cells, with some proteins enriched for subunits of macromolecular complexes showing signs of post-transcriptional regulation. Additionally, trisomy 21 cells exhibit lower viability and increased dependency on serine-driven lipid synthesis.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Cell Biology
Ting Wang, Zheng Wang, Lauriane de Fabritus, Jinglian Tao, Essa M. Saied, Ho-Joon Lee, Bulat R. Ramazanov, Benjamin Jackson, Daniel Burkhardt, Mikhail Parker, Anne S. Gleinich, Zhirui Wang, Dong Eun Seo, Ting Zhou, Shihao Xu, Irina Alecu, Parastoo Azadi, Christoph Arenz, Thorsten Hornemann, Smita Krishnaswamy, Serge A. van de Pavert, Susan M. Kaech, Natalia B. Ivanova, Fabio R. Santori
Summary: 1-Deoxysphingosines have been identified as modulators of NR2F1 and NR2F2 activity, binding to their ligand-binding domains and regulating their transcriptional activity at physiological concentrations. Inhibition of sphingolipid biosynthesis phenocopies NR2F1/2 deficiency in endothelium and cardiomyocytes, while increased levels of 1-Deoxysphingosines activate NR2F1/2-dependent differentiation programs. These findings suggest that 1-Deoxysphingosines are physiological regulators of NR2F1/2-mediated transcription.
DEVELOPMENTAL CELL
(2021)