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
Medicine, General & Internal
Carl P. Weiner, Mark L. Weiss, Helen Zhou, Argyro Syngelaki, Kypros H. Nicolaides, Yafeng Dong
Summary: The study suggests that maternal plasma RNA screening, tested by qRT-PCR and classified by machine learning, may accurately predict prenatal trisomy 21 (T21) at a lower cost than plasma DNA, providing potential for universal screening.
Article
Public, Environmental & Occupational Health
James Shaw, Jennifer Gutberg, Paul Wankah, Mudathira Kadu, Carolyn Steele Gray, Ann McKillop, G. Ross Baker, Mylaine Breton, Walter P. Wodchis
Summary: This article introduces a novel strategy for conceptualizing integrated care and presents a typology of milestones based on analysis of cases in Canada and New Zealand. By analyzing interviews with managers and leaders, the authors generate a detailed timeline of integrated care development and propose a comprehensive framework of developmental milestones. This framework can assist policymakers and healthcare leaders in supporting the implementation of integrated care.
SOCIAL SCIENCE & MEDICINE
(2022)
Article
Pediatrics
Jennifer M. Zubler, Lisa D. Wiggins, Michelle M. Macias, Toni M. Whitaker, Judith S. Shaw, Jane K. Squires, Julie A. Pajek, Rebecca B. Wolf, Karnesha S. Slaughter, Amber S. Broughton, Krysta L. Gerndt, Bethany J. Mlodoch, Paul H. Lipkin
Summary: The American Academy of Pediatrics (AAP) convened an expert working group to revise developmental surveillance checklists funded by the Centers for Disease Control and Prevention (CDC). The revised checklists include evidence-informed milestones and clarify when children can be expected to reach certain milestones. The criteria and revised checklists can support developmental surveillance, clinical judgment, and research, but there is a lack of data for social-emotional and cognitive milestones.
Article
Biochemistry & Molecular Biology
Mariko Katoh-Kurasawa, Karin Hrovatin, Shigenori Hirose, Amanda Webb, Hsing- Ho, Blaz Zupan, Gad Shaulsky
Summary: The study on Dictyostelium reveals 1371 milestone genes whose expression changes sharply during morphogenesis, as well as 1099 genes as members of 21 regulons that remain coordinately regulated despite genetic, temporal, and developmental perturbations.
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
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
Immunology
Stephanie James, Robert C. Haight, Cassandra Hanna, Lindsey Furton
Summary: This study aims to understand the level of protection against influenza in adults with Down syndrome following vaccination. The results suggest that adults with Down syndrome had increased antibody concentration but decreased titer to a specific strain of influenza compared to controls. Further research on B- and T-cell function in this population is needed, and high-dose influenza vaccine may benefit them.
Article
Neurosciences
Chiara Locatelli, Sara Onnivello, Francesca Antonaros, Agnese Feliciello, Sonia Filoni, Sara Rossi, Francesca Pulina, Chiara Marcolin, Renzo Vianello, Enrico Toffalini, Giuseppe Ramacieri, Anna Martelli, Giulia Procaccini, Giacomo Sperti, Maria Caracausi, Maria Chiara Pelleri, Lorenza Vitale, Gian Luca Pirazzoli, Pierluigi Strippoli, Guido Cocchi, Allison Piovesan, Silvia Lanfranchi
Summary: The study aims to expand the knowledge on developmental milestone acquisition and explore the relationship between milestone acquisition and later development in individuals with Down Syndrome. The findings suggest that sitting predicts early motor development, while babbling and sphincter control become stronger predictors as individuals age.
Article
Oncology
Heleen Maurice-Stam, Loes M. E. van Erp, Anne Maas, Hedy A. van Oers, Leontien C. M. Kremer, Eline Van Dulmen-den Broeder, Wim J. E. Tissing, Jacqueline J. Loonen, Helena J. H. van der Pal, Laura R. Beek, Andrica C. H. de Vries, Marry M. Van den Heuvel-Eibrink, Cecile M. Ronckers, Dorine Bresters, Marloes Louwerens, Margriet Van der Heiden-van der Loo, Gea A. Huizinga, Martha A. Grootenhuis
Summary: This study aimed to compare the psychosocial development of young adult survivors of childhood cancer with a norm group of young adults from the general population. The results showed that the overall psychosocial development of the young adult survivors of childhood cancer was as favorable as the norm group, but survivors of central nervous system cancer were at risk of an unfavorable psychosocial development in all domains.
SUPPORTIVE CARE IN CANCER
(2022)
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
Psychology, Clinical
Laurie J. Hannigan, Ragna Bugge Askeland, Helga Ask, Martin Tesli, Elizabeth Corfield, Ziada Ayorech, Per Magnus, Pal Rasmus Njolstad, Anne-Siri Oyen, Camilla Stoltenberg, Ole A. Andreassen, Angelica Ronald, George Davey Smith, Ted Reichborn-Kjennerud, Alexandra Havdahl
Summary: This study investigates the associations between genetic risk for neurodevelopmental disorders and attainment of early-life language and motor development milestones. The results show that genetic risk for ADHD is associated with earlier walking age, while genetic risk for autism is associated with later walking age, with sex differences observed. No robust associations were found between genetic risk for schizophrenia or any neurodevelopmental disorders and language developmental milestones.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Genetics & Heredity
Peter Benn, Francesca Romana Grati
Summary: Distinct patterns of autosomal trisomies were found in trophoblasts, mesenchyme, or both. Trisomies in both trophoblasts and mesenchyme resembled those in spontaneous abortions, and were associated with chromosome size and protein coding genes. The abnormalities seen in CVS differ from those reported in early embryos, with lineage-specific aneuploidy in trophoblasts, mesenchyme, and fetus from conception through birth.
PRENATAL DIAGNOSIS
(2021)
Article
Otorhinolaryngology
Somya Shankar, Annie E. Moroco, Zachary T. Elliott, Maurits Boon, Colin Huntley
Summary: This study retrospectively examined the health outcomes of patients with Trisomy 21 (T21) and obstructive sleep apnea (OSA) 10 years after their diagnosis of OSA. The results showed that patients with T21 and OSA had significantly higher incidence of adverse health outcomes in various cardiovascular, neurological, and endocrinological aspects. Patients who underwent sleep surgery had significantly reduced incidence of adverse health outcomes compared to those using continuous positive airway pressure.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2023)
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)