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
Oncology
Soula Danopoulos, Soumyaroop Bhattacharya, Gail Deutsch, Lina R. Nih, Chris Slaunwhite, Thomas J. Mariani, Denise Al Alam
Summary: This study identifies prenatal lung abnormalities in individuals with Down syndrome (DS), characterized by histopathological abnormalities, reduced cell proliferation, and dysregulated gene expression. These findings contribute to a better understanding of the pathogenesis of lung disease in DS patients.
JOURNAL OF PATHOLOGY
(2021)
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
Medicine, General & Internal
Angelika Buczynska, Iwona Sidorkiewicz, Slawomir Lawicki, Adam Jacek Kretowski, Monika Zbucka-Kretowska
Summary: The study found elevated levels of DNA/RNA oxidative stress damage products and asprosin, as well as decreased levels of vitamin D and A1AT in pregnancies with trisomy 21. Plasma asprosin demonstrated the highest screening utility for T21 prenatal screening.
JOURNAL OF CLINICAL MEDICINE
(2021)
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
Biology
Dylan C. Sarver, Cheng Xu, Susana Rodriguez, Susan Aja, Andrew E. Jaffe, Feng J. Gao, Michael Delannoy, Muthu Periasamy, Yasuhiro Kazuki, Mitsuo Oshimura, Roger H. Reeves, G. William Wong
Summary: This study investigates the impact of aneuploidy on systemic metabolism using a transchromosomic mouse model carrying a near-complete human chromosome 21. The research reveals that mice with extra copies of chromosome 21 exhibit increased calorie intake, hyperactivity, hypermetabolism, and improved insulin sensitivity. The discovery suggests that sarcolipin-mediated thermogenesis can be harnessed to promote energy expenditure and metabolic health.
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
Obstetrics & Gynecology
Chih-Ping Chen, Fang-Tzu Wu, Yi-Yung Chen, Yen-Ting Pan, Peih-Shan Wu, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang
Summary: In this case report, a pregnant woman with positive non-invasive prenatal testing (NIPT) for trisomy 16 underwent amniocentesis, which revealed mosaic trisomy 16 in the amniocytes. The fetus showed intrauterine growth restriction (IUGR), intrauterine fetal death (IUFD), and a decrease in the aneuploid cell line. The pregnancy was terminated, and a phenotypically normal female fetus was delivered.
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
(2023)
Article
Acoustics
Xiangyi Dong, Haifang Wu, Linlin Zhu, Xiang Cong, Qi Li, Fengye Tang, Guowei Tao
Summary: The study found a high incidence of trisomy 21 in UPSVS cases, primarily associated with type I or II UPSVS. Most cases with the combined defect underwent termination of pregnancy.
JOURNAL OF ULTRASOUND IN MEDICINE
(2021)
Article
Obstetrics & Gynecology
Chih-Ping Chen, Cheng-En Hsieh, Schu-Rern Chern, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang
Summary: This case report presents a prenatal diagnosis of mosaic trisomy 11 in a single colony of cultured amniocytes, with a favorable perinatal outcome. Follow-up revealed normal development in the newborn, despite the chromosomal abnormality detected during prenatal testing.
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
(2021)
Article
Public, Environmental & Occupational Health
Shuxian Wang, Kejun Liu, Huixia Yang, Jingmei Ma
Summary: The study investigated the benefits and cost-effectiveness of NIPT as primary or contingent strategies for the high-risk population of trisomy 21 (T21), concluding that combined strategies involving NIPT reduced unnecessary diagnostic tests.
FRONTIERS IN PUBLIC HEALTH
(2022)
Article
Biotechnology & Applied Microbiology
Lei Gao, Jian Zhang, Xiaoju Ran, Xue Jia, Yiyi Xing, Tianyi Dai, Wei Song, Ze Wu, Wei Sun, Dan Shan
Summary: The study identified over 50 differentially expressed proteins in the urine of Trisomy 21 patients, most of which were associated with embryonic development. TIMP2 and LAMP2 were selected as potential urinary protein biomarkers for Trisomy 21. The combination of TIMP2 and LAMP2 showed promise in differentiating Trisomy 21 fetuses from healthy controls with a sensitivity of 74%, a specificity of 82%, and an AUC value of 0.82.
OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY
(2021)
Article
Neurosciences
Jesus David Urbano-Gamez, Juan Jose Casanas, Itziar Benito, Maria Luz Montesinos
Summary: Down syndrome (DS) is associated with memory deficits due to hippocampal-related issues, with experimental models showing alterations in synaptic plasticity pathways. Enhanced mGluR-LTD and increased mushroom spines in hippocampal neurons in Ts1Cje mice contribute to memory deficits. Prenatal rapamycin treatment shows positive effects on both phenotypes, suggesting therapeutic potential for DS intellectual disability.
Article
Genetics & Heredity
Francesca Antonaros, Rossella Zenatelli, Giulia Guerri, Matteo Bertelli, Chiara Locatelli, Beatrice Vione, Francesca Catapano, Alice Gori, Lorenza Vitale, Maria Chiara Pelleri, Giuseppe Ramacieri, Guido Cocchi, Pierluigi Strippoli, Maria Caracausi, Allison Piovesan
Summary: The study analyzed gene expression profiles of T21 and normal control blood cells, finding that the most over-expressed genes encode interferon-induced proteins and genes involved in mitochondrial translation and energy production were also altered.
Article
Endocrinology & Metabolism
Hanna Nowotny, Uta Neumann, Veronique Tardy-Guidollet, S. Faisal Ahmed, Federico Baronio, Tadej Battelino, Jerome Bertherat, Oliver Blankenstein, Marco Bonomi, Claire Bouvattier, Aude Brac de la Perriere, Sara Brucker, Marco Cappa, Philippe Chanson, Hedi L. Claahsen-van der Grinten, Annamaria Colao, Martine Cools, Justin H. Davies, Helmut-Gunther Dorr, Wiebke K. Fenske, Ezio Ghigo, Roberta Giordano, Claus H. Gravholt, Angela Huebner, Eystein Sverre Husebye, Rebecca Igbokwe, Anders Juul, Florian W. Kiefer, Juliane Leger, Rita Menassa, Gesine Meyer, Vassos Neocleous, Leonidas A. Phylactou, Julia Rohayem, Gianni Russo, Carla Scaroni, Philippe Touraine, Nicole Unger, Jarmila Vojtkova, Diego Yeste, Svetlana Lajic, Nicole Reisch
Summary: A survey conducted in Europe revealed a high degree of variability and discrepancy in the use of prenatal dexamethasone (Pdex) treatment for congenital adrenal hyperplasia (CAH). Only 36% of the surveyed medical centres provide Pdex treatment, and the starting point and dosage of the treatment vary among different centres. Limited availability of long-term follow-up registries was also observed. This highlights the importance of a European cooperation initiative to establish evidence-based guidelines for prenatal diagnostics, treatment, and follow-up of pregnancies at risk for CAH.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Article
Substance Abuse
Jeroen L. A. Pennings, Anne Havermans, Charlotte G. G. M. Pauwels, Erna J. Z. Krusemann, Wouter F. Visser, Reinskje Talhout
Summary: The presence of nicotine salt-containing e-liquids in the Netherlands market has increased significantly in recent years. Nicotine salts, due to their characteristics, make these e-liquids more addictive and attractive, particularly to young and inexperienced users. Policymakers are advised to regulate products containing nicotine salts.
Article
Substance Abuse
Jeroen L. A. Pennings, Geoffrey Ferris Wayne, Walther N. M. Klerx, Charlotte G. G. M. Pauwels, Reinskje Talhout
Summary: This study explores the impact of tobacco blend and design characteristics on the sensory experience of cigarette consumers. The findings suggest that while some variations in design are noticeable to consumers, many products on the market are not discernibly different, indicating that brand diversity may serve non-sensory purposes such as marketing.
Article
Substance Abuse
Ingrid M. E. Bakker-'t Hart, Frank Bakker, Jeroen L. A. Pennings, Naomi Weibolt, Selma Eising, Reinskje Talhout
Summary: This study examines the commonly used flavors and flavorings in waterpipe tobacco and related products, and presents a waterpipe tobacco flavor wheel for experts' reference. The analysis reveals that the majority of waterpipe tobacco products are flavored, with fruit flavors being the most prevalent. Herbal molasses and steam stones contain similar levels of flavorings, with lower levels compared to waterpipe tobacco. The flavorings in waterpipe products are mainly fruity and sweet, often combined with menthol/mint flavorings. Banning flavorings in all waterpipe products could be an effective strategy to reduce waterpipe smoking among youth.
Article
Pharmacology & Pharmacy
Marja Driessen, Suzanne van der Plas-Duivesteijn, Anne S. Kienhuis, Evert-Jan van den Brandhof, Marianne Roodbergen, Bob van de Water, Herman P. Spaink, Magnus Palmblad, Leo T. M. van der Ven, Jeroen L. A. Pennings
Summary: The zebrafish embryo is a promising model for studying hepatotoxicity and could potentially reduce the use of rodents in such assessments. Proteomics analysis identified a set of potential protein markers for detecting adverse liver responses.
Article
Multidisciplinary Sciences
Andreja Novak, Jeroen L. A. Pennings, Larissa van der Maas, Hugo D. Meiring, Irene Ludwig, Saertje Verkoeijen, Victor Rutten, Femke Broere, Arjen Sloots
Summary: Stimulation of a canine monocyte/macrophage cell line with Leptospira strains and vaccines revealed differentially expressed genes and proteins, suggesting potential biomarkers for Leptospira vaccine quality control.
SCIENTIFIC REPORTS
(2022)
Review
Substance Abuse
Anette K. Bolling, Nadja Mallock, Efthimios Zervas, Stephanie Caille-Garnier, Thibault Mansuy, Cecile Michel, Jeroen L. A. Pennings, Thomas Schulz, Per E. Schwarze, Renata Solimini, Jean-Pol Tassin, Constantine Vardavas, Miguel Merino, Charlotte G. G. M. Pauwels, Lotte E. van Nierop, Claude Lambre, Anne Havermans
Summary: The study found significant limitations in the methodology used by international tobacco companies in their reports, rendering them unsuitable for determining whether priority additives should be banned in tobacco products according to the Tobacco Products Directive.
TOBACCO PREVENTION & CESSATION
(2022)
Review
Substance Abuse
Anne Havermans, Nadja Mallock, Efthimios Zervas, Thibault Mansuy, Jeroen L. A. Pennings, Thomas Schulz, Per E. Schwarze, Renata Solimini, Jean -Pol Tassin, Constantine I. Vardavas, Miguel Merino, Charlotte G. G. M. Pauwels, Lotte E. van Nierop, Claude Lambre, Anette K. Bolling
Summary: This study evaluates the 15 priority additives in the European Union Tobacco Products Directive. The industry reports were found to be insufficient and methodologically limited, and the issues of toxicity, addictiveness, and attractiveness of the additives were not adequately addressed. Alternative approaches such as the precautionary principle are recommended.
TOBACCO PREVENTION & CESSATION
(2022)
Article
Environmental Sciences
Victoria C. de Leeuw, Conny T. M. van Oostrom, Paul F. K. Wackers, Jeroen L. A. Pennings, Hennie M. Hodemaekers, Aldert H. Piersma, Ellen V. S. Hessel
Summary: There is an increasing recognition of the limitations of using animals for compound-induced developmental neurotoxicity (DNT) testing. Human stem cell-based models, such as the human neural progenitor test (hNPT), play a pivotal role in studying DNT as they can replicate relevant processes in human brain development. This study characterized the differentiation of neural progenitor cells over time and identified neurodevelopmental processes sensitive to compound exposure using transcriptomics.
Article
Reproductive Biology
Laura M. M. Samrani, Jeroen L. A. Pennings, Nina Hallmark, Remi Bars, Helen Tinwell, Marc Pallardy, Aldert H. Piersma
Summary: The study investigates the effect of exposure duration on gene expression changes in the all-trans retinoic acid (ATRA) signaling pathway in zebrafish embryotoxicity test (ZET). It is found that the highest magnitudes of gene expression regulation occur after 2-24 hrs exposure, with the optimal response at 4 hrs. Early assessment of gene expression regulation after exposure onset in ZET could be optimal for predicting developmental toxicity.
REPRODUCTIVE TOXICOLOGY
(2023)
Article
Substance Abuse
Jeroen L. A. Pennings, Anne Havermans, Erna J. Z. Krusemann, Dion Zijtveld, Eva H. W. Huiberts, Peter M. J. Bos, Erna Schenk, Wouter F. Visser, Ingrid M. EBakker-'t Hart, Yvonne C. M. Staal, Reinskje Talhout
Summary: The Dutch government plans to only allow tobacco flavors in e-liquids to discourage e-cigarette use among youth. Researchers have compiled a restrictive list of 16 tobacco flavorings to implement this policy.
Article
Psychiatry
M. Liset Rietman, N. Charlotte Onland-Moret, Astrid C. J. Nooyens, Dorina Ibi, Ko Willems van Dijk, Leonard Daniel Samson, Jeroen L. A. Pennings, Maarten Schipper, Albert Wong, Annemieke M. W. Spijkerman, Martijn E. T. Dolle, W. M. Monique Verschuren
Summary: Cognitive decline is a normal part of aging, but factors such as genetics and environment can cause some individuals to experience a faster decline. This study suggests that the decline in overall cognitive function is influenced by different mechanisms than those involved in regulating cognitive function.
TRANSLATIONAL PSYCHIATRY
(2022)
Review
Chemistry, Medicinal
Christina H. J. Veltman, Jeroen L. A. Pennings, Bob van de Water, Mirjam Luijten
Summary: Nongenotoxic (NGTX) carcinogens induce cancer through mechanisms other than direct DNA damage, primarily involving the induction of oxidative stress leading to regenerative proliferation. However, current carcinogenicity assessment methods mainly focus on genetic toxicity, which may overlook NGTX carcinogens. To improve the predictivity of carcinogenicity assessment, a mechanism-based approach such as the adverse outcome pathway (AOP) network for chemically induced oxidative stress leading to (NGTX) carcinogenesis is proposed. This AOP network considers the role of oxidative stress in cancer development and explores the mechanisms and biological effects of chemical-induced oxidative damage. Developing AOP networks relevant to human carcinogenesis will facilitate a transition to a mechanism-based, human-relevant carcinogenicity assessment with reduced reliance on laboratory animals.
CHEMICAL RESEARCH IN TOXICOLOGY
(2023)
Article
Neurosciences
Faycal Guedj, Elise Kane, Lauren A. Bishop, Jeroen L. A. Pennings, Yann Herault, Diana W. Bianchi
Summary: The effectiveness of the Ts65Dn mouse model in improving neurocognition in Down syndrome has not been successfully translated to humans. The Ts66Yah mouse model, which carries an extra chromosome and identical segmental trisomy as Ts65Dn, was used to investigate the underlying factors.
BIOLOGICAL PSYCHIATRY
(2023)
Article
Substance Abuse
Charlotte G. G. M. Pauwels, Wouter F. Visser, Jeroen L. A. Pennings, Ernesto P. Baloe, Arnout P. T. Hartendorp, Loes van Tiel, Mirjam van Mourik, Wim Vaessen, Sanne Boesveldt, Reinskje Talhout
Summary: This study aimed to determine whether nicotine salts increase sensory appeal at lower concentrations and compared the inhalation intensity of both types of e-liquids. The results showed that nicotine salts did not significantly affect sensory appeal, harshness, and puffing intensity compared to free-based nicotine.
DRUG AND ALCOHOL DEPENDENCE
(2023)
Article
Substance Abuse
Jeroen L. A. Pennings, Charlotte G. G. M. Pauwels, Erna Schenk, Reinskje Talhout
Summary: Cigarillos have emerged as a substitute for flavored cigarettes, which are prohibited in the European Union, and they are also cheaper. To gain a better understanding of the cigarillo market, we analyzed product data from manufacturers via the EU-CEG system.
TOBACCO INDUCED DISEASES
(2023)