Article
Public, Environmental & Occupational Health
Shiraya Thompson, Beate Ritz, Myles Cockburn, Julia E. Heck
Summary: This study found an association between childhood retinoblastoma and prenatal pesticide exposure from residing near agricultural fields. Specific pesticides such as acephate and bromacil were associated with increased risk for unilateral retinoblastoma, while pymetrozine and kresoxim-methyl were associated with retinoblastoma (all types combined).
INTERNATIONAL JOURNAL OF HYGIENE AND ENVIRONMENTAL HEALTH
(2022)
Article
Environmental Sciences
Chenhui Yang, Jing Fang, Xiaojie Sun, Wenxin Zhang, Juxiao Li, Xiaomei Chen, Ling Yu, Wei Xia, Shunqing Xu, Zongwei Cai, Yuanyuan Li
Summary: The study found that prenatal exposure to beta-HCH was associated with increased BMI z-score and higher risk of overweight status in infants, especially at 12 and 24 months of age, with stronger effects observed in girls. Other OCPs did not show significant relationships with infant growth.
ENVIRONMENT INTERNATIONAL
(2021)
Article
Environmental Sciences
Astrid N. Zamora, Deborah J. Watkins, Karen E. Peterson, Martha M. Tellez-Rojo, Howard Hu, John D. Meeker, Alejandra Cantoral, Adriana Mercado-Garcia, Erica C. Jansen
Summary: This study found associations between maternal prenatal pesticide exposure and longer sleep duration and later sleep timing among adolescent offspring within a cohort of mother-adolescent pairs. These associations may be specifically related to female offspring.
ENVIRONMENTAL RESEARCH
(2022)
Review
Obstetrics & Gynecology
Ine Tavano, Bart De Keersmaecker, Michael Aertsen, Luc De Catte
Summary: The MIH variant of HPE is a rare prosencephalic cleavage disorder with few cases of accurate prenatal diagnosis reported in the literature. Our study added four additional prenatally diagnosed cases and found that MIH HPE can be detected from the early second trimester, frequently associated with ZIC2 mutation.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Article
Environmental Sciences
Hongcheng Wei, Xiaochen Zhang, Xu Yang, Qiurun Yu, Siting Deng, Quanquan Guan, Danrong Chen, Mingzhi Zhang, Beibei Gao, Shangcheng Xu, Yankai Xia
Summary: This study investigated the internal pesticides exposure levels in pregnant Chinese women and identified specific pesticides associated with domain-specific neuropsychological development. The results showed significant inverse associations between prenatal exposure to chlorpyrifos, mirex, atrazine, and dimethipin and the domain-specific neuropsychological development of children at 12 and 18 months of age.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Agriculture, Dairy & Animal Science
Davide Di Paola, Enrico Gugliandolo, Fabiano Capparucci, Marika Cordaro, Carmelo Iaria, Rosalba Siracusa, Ramona D'Amico, Roberta Fusco, Daniela Impellizzeri, Salvatore Cuzzocrea, Rosanna Di Paola, Rosalia Crupi, Alessio Filippo Peritore
Summary: Simultaneous exposure to multiple contaminants can increase fish toxicity, and co-exposure to cadmium and imidacloprid can cause developmental damage and harm to retinal cells in zebrafish, potentially leading to apoptosis.
Article
Environmental Sciences
Isabelle Enderle, Nathalie Costet, Noriane Cognez, Cecile Zaros, Julien Caudeville, Ronan Garlantezec, Cecile Chevrier, Alexandre Nougadere, Blandine De Lauzon-Guillain, Maela Le Lous, Remi Beranger
Summary: The study suggests a potential influence of residential exposure to prochloraz and some herbicides on preeclampsia risk, especially for women exposed to prochloraz near their homes. However, no significant association was found between dietary exposure to pesticide residues and preeclampsia.
ENVIRONMENTAL RESEARCH
(2021)
Article
Neurosciences
Liron Cohen-Eliraz, Asher Ornoy, Eliana Ein-Mor, Moriah Bar-Nitsan, Tammy Pilowsky Peleg, Ronit Calderon-Margalit
Summary: This study aimed to explore the association between intrauterine exposure to phthalates, such as DEHP, and emotional/behavioral development of 24-month-old toddlers. The results showed that maternal DEHP exposure was only associated with behavioral-developmental outcomes in boys. Boys with high DEHP exposure had lower developmental scores in personal social abilities and more internalizing and externalizing problems compared to boys with low DEHP exposure. No differences were found in girls.
Article
Environmental Sciences
Michiel A. van den Dries, Alexander P. Keil, Henning Tiemeier, Anjoeka Pronk, Suzanne Spaan, Susana Santos, Alexandros G. Asimakopoulos, Kurunthachalam Kannan, Romy Gaillard, Monica Guxens, Leonardo Trasande, Vincent W. V. Jaddoe, Kelly K. Ferguson
Summary: The study found that prenatal exposure to a mixture of phthalates, bisphenols, and OP pesticides can impact fetal growth, especially during mid-pregnancy with a more pronounced effect, while the impact is reduced in late pregnancy and at birth.
ENVIRONMENTAL HEALTH PERSPECTIVES
(2021)
Article
Environmental Sciences
Huan Chen, Wenxin Zhang, Xiaojie Sun, Yanqiu Zhou, Jiufeng Li, Hongzhi Zhao, Wei Xia, Shunqing Xu, Zongwei Cai, Yuanyuan Li
Summary: This study evaluates the association between prenatal exposure to chemical mixtures and birth size. The findings suggest that exposure to multiple chemical mixtures during pregnancy is associated with variations in birth weight, length, and ponderal index.
JOURNAL OF EXPOSURE SCIENCE AND ENVIRONMENTAL EPIDEMIOLOGY
(2023)
Article
Environmental Sciences
Sharon K. Sagiv, Stephen Rauch, Katherine R. Kogut, Carly Hyland, Robert B. Gunier, Ana M. Mora, Asa Bradman, Julianna Deardorff, Brenda Eskenazi
Summary: This study investigated the association between prenatal exposure to organophosphate pesticides and risk-taking behaviors in adolescence and young adulthood in a Mexican American cohort. The results did not show clear or consistent evidence of such associations, although there were isolated findings of increased risk for smoking or vaping nicotine and driving without a license. The small sample size may have limited the ability to detect subtle associations between early life OP exposure and risk-taking behaviors.
ENVIRONMENTAL HEALTH
(2022)
Article
Environmental Sciences
Zhiye Qi, Xiaoxiao Song, Xia Xiao, Kek Khee Loo, May C. Wang, Qinghua Xu, Jie Wu, Shuqi Chen, Ying Chen, Lingling Xu, Yan Li
Summary: This study found that pregnant women are commonly exposed to pyrethroid pesticides. The results indicate that prenatal exposure to pyrethroids may have deleterious effects on infant neurodevelopment, particularly at a high dosage of exposure.
ECOTOXICOLOGY AND ENVIRONMENTAL SAFETY
(2022)
Article
Environmental Sciences
Shengju Yin, Ying Sun, Jinhui Yu, Zaiming Su, Mingkun Tong, Yali Zhang, Jufen Liu, Linlin Wang, Zhiwen Li, Aiguo Ren, Lei Jin
Summary: Neural tube defects (NTDs) are associated with prenatal exposure to organochlorine pesticides (OCPs), with specific OCPs showing significant correlation with increased NTD risk. Additionally, there is a linear relationship between the concentration of OCPs mixture and NTD risk, indicating a joint effect on NTD risk.
SCIENCE OF THE TOTAL ENVIRONMENT
(2021)
Article
Environmental Sciences
Amy E. Margolis, David Pagliaccio, Bruce Ramphal, Sarah Banker, Lauren Thomas, Morgan Robinson, Masato Honda, Tamara Sussman, Jonathan Posner, Kurunthachalam Kannan, Julie Herbstman, Virginia Rauh, Rachel Marsh
Summary: Prenatal exposure to environmental tobacco smoke may have detrimental effects on children's brain structure and function, affecting cognitive control and attention. The study results show that children exposed to ETS had smaller thalamic and inferior frontal gyrus volumes, and exhibited increased brain activation during cognitive conflict resolution.
ENVIRONMENT INTERNATIONAL
(2021)
Article
Pediatrics
Oluwadamilola O. Oni-Orisan, Lynne M. Dansereau, Carmen J. Marsit, Lynne M. Smith, Charles R. Neal, Sheri A. Della Grotta, James F. Padbury, Barry M. Lester
Summary: This study found that prenatal MA exposure and early childhood adversity were associated with increased DNA methylation of HSD11B2. Even after adjusting for covariates, the significant effects of early childhood adversity and prenatal MA exposure on DNA methylation remained.
PEDIATRIC RESEARCH
(2021)
Editorial Material
Environmental Sciences
Kenneth S. Rivera-Gonzalez, Tyler G. Beames, Robert J. Lipinski
Review
Hematology
Selen C. Muratoglu, Marc F. Charette, Zorina S. Galis, Adam S. Greenstein, Alan Daugherty, Anne Joutel, Beth A. Kozel, Donna M. Wilcock, Emily C. Collins, Farzaneh A. Sorond, Gareth R. Howell, Hyacinth I. Hyacinth, Kent K. C. Lloyd, Kurt R. Stenmark, Manfred Boehm, Mark L. Kahn, Roderick Corriveau, Sara Wells, Timothy J. Bussey, Stacey J. Sukoff Rizzo, M. Luisa Iruela-Arispe
Summary: Clinical investigations have shown that vascular-associated medical conditions are significant risk factors for dementia. However, the specific cognitive impairments associated with certain types of vascular deficiencies are still unclear. To address this, the National Heart, Lung, and Blood Institute has developed animal models to study vascular disease and its underlying causes. These models could be used as tools to link specific vascular signaling pathways with cognitive and neurobehavioral deficits related to dementia.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Benjamin D. Brink, Richard Feinn, Beth A. Kozel, Charles J. Billington, Delong Liu, Eric Yu, Sampat Sindhar, Julie He, Charles Rouse, Rachel Lampert, Barbara R. Pober, Robert W. Elder
Summary: This study found that QTc prolongation (>= 460ms) is increased in Williams syndrome (WS) patients, along with higher heart rates. The average QTcB in WS patients is higher than controls and there is a higher frequency of QTc >= 460ms compared to the general population.
PEDIATRIC CARDIOLOGY
(2022)
Article
Psychiatry
Nancy Raitano Lee, Xin Niu, Fengqing Zhang, Liv S. Clasen, Beth A. Kozel, Ann C. M. Smith, Gregory L. Wallace, Armin Raznahan
Summary: This research examines the impact of different gene dosage disorders on autism-related traits. The study found that different disorders have varying effects on these traits, and these effects are influenced by the subtype of the disorder and the dimension of the traits.
TRANSLATIONAL PSYCHIATRY
(2022)
Article
Cardiac & Cardiovascular Systems
Russell H. Knutsen, Leah M. Gober, Elise K. Kronquist, Maninder Kaur, Danielle R. Donahue, Danielle Springer, Zu Xi Yu, Marcus Y. Chen, Yi-Ping Fu, Feri Choobdar, My-Le Nguyen, Sharon Osgood, Joy L. Freeman, Neelam Raja, Mark D. Levin, Beth A. Kozel
Summary: In individuals with Williams Beuren syndrome (WBS) who have undergone intervention for pulmonary artery (PA) stenosis, vascular deficiencies beyond arterial caliber persist. Eln(+/-) mice exhibit complex vascular changes that affect both proximal and distal vasculatures. Minoxidil improves some vascular endpoints but does not alter earlier-onset vascular patterns.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Review
Genetics & Heredity
Maegan E. Roberts, Sarah Nimrichter, Megan L. Marshall, Elizabeth K. Flynn, Rick Person, Kathleen S. Hruska, Paul Kruszka, Jane Juusola
Summary: This study reports two siblings with different variants in the POLE gene, identified through exome sequencing. A review of their phenotypes and available literature suggests that individuals with biallelic pathogenic variants in POLE resulting in partial loss-of-function present with similar symptoms.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Review
Cell Biology
Sara S. Procknow, Beth A. Kozel
Summary: Elastin provides elasticity to tissues such as the lung, blood vessels, and skin, but the mechanisms regulating its production are not fully understood. Studying the expression of the ELN gene may help intervene in rare diseases and potentially replace age-related losses by re-initiating elastin production.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2022)
Article
Ophthalmology
Laryssa A. Huryn, Taylor Flaherty, Rosalie Nolen, Lev Prasov, Wadih M. Zein, Catherine A. Cukras, Sharon Osgood, Neelam Raja, Mark D. Levin, Susan Vitale, Brian P. Brooks, Robert B. Hufnagel, Beth A. Kozel
Summary: This study compared the ocular manifestations between Williams-Beuren syndrome (WBS) and isolated elastin mediated supravalvular aortic stenosis (SVAS) patients. Different ocular findings were observed in WBS patients, including stellate iris, retinal arteriolar tortuosity, small hypopigmented retinal deposits, and broad foveal pit contour. These results suggest the involvement of other genes within the WBS critical region in ocular phenotypes and development.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Medicine, General & Internal
Elise K. Kronquist, Maninder Kaur, Leah M. Gober, Russell H. Knutsen, Yi-Ping Fu, Zu-Xi Yu, Danielle R. Donahue, Marcus Y. Chen, Sharon Osgood, Neelam Raja, Mark D. Levin, Amisha Barochia, Beth A. Kozel
Summary: Adults with Williams-Beuren syndrome exhibit lower lung function and exercise capacity, with increased air trapping and obstruction, potentially due to elastin insufficiency. Monitoring of lung function is important for individuals with WS.
Article
Genetics & Heredity
Ekanem N. Ekure, Ogochukwu Sokunbi, Paul Kruszka, Maximilian Muenke, Adebowale A. Adeyemo
Summary: Hajdu-Cheney syndrome is an ultra-rare genetic disorder characterized by osteoporosis, distinct facial appearance, and joint laxity. This study presents the first reported case of an African child with this syndrome and identifies a previously unreported association with congenital heart disease.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Education, Special
Emma E. Condy, Lindsey Becker, Cristan Farmer, Aaron J. Kaat, Colby Chlebowski, Beth A. Kozel, Audrey Thurm
Summary: The NIHTB-CB is a useful tool for assessing cognitive abilities in individuals with intellectual disabilities, but its use in WS patients may be limited, as indicated by the performance on tasks such as Flanker and DCCS.
AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES
(2022)
Article
Anatomy & Morphology
Matthew T. McLaughlin, Miranda R. Sun, Tyler G. Beames, Austin C. Steward, Joshua W. M. Theisen, Hannah M. Chung, Joshua L. Everson, Ivan P. Moskowitz, Michael D. Sheets, Robert J. Lipinski
Summary: This study reveals the regulation of Frem1 expression by the Shh signaling pathway in cNCCs, providing new insights into the mechanisms underlying midfacial morphogenesis.
DEVELOPMENTAL DYNAMICS
(2023)
Article
Developmental Biology
Joshua L. Everson, Yung-Chia Tseng, Johann K. Eberhart
Summary: Losses and malformations of cranial neural crest cell (cNCC) derivatives are a common feature of brain and face malformations. The etiology of these defects involves complex interactions between genetic and environmental factors. This study developed a high-throughput analysis method using zebrafish embryos to identify multifactorial interactions in the genesis of craniofacial defects. The results showed that exposure to environmental toxins and alcohol can reduce cNCC fluorescence, leading to craniofacial defects. The study also demonstrated the sensitivity of the assay in detecting alterations in Hedgehog signaling, a critical regulator of craniofacial development.
BIRTH DEFECTS RESEARCH
(2023)
Article
Medicine, General & Internal
Laura W. Dillon, Gege Gui, Kristin M. Page, Niveditha Ravindra, Zoe C. Wong, Georgia Andrew, Devdeep Mukherjee, Scott L. Zeger, Firas El Chaer, Stephen Spellman, Alan Howard, Karen Chen, Jeffery Auletta, Steven M. Devine, Antonio Martin Jimenez Jimenez, Marcos J. G. De Lima, Mark R. Litzow, Partow Kebriaei, Wael Saber, Daniel J. Weisdorf, Christopher S. Hourigan
Summary: This study aimed to determine whether DNA sequencing can identify residual variants in the blood of adults with acute myeloid leukemia (AML) in first remission before allogeneic hematopoietic cell transplant, and whether these variants are associated with increased risk of relapse and poorer overall survival. The results showed that the persistence of FLT3 internal tandem duplication or NPM1 variants in the blood was associated with higher relapse rates and decreased survival in AML patients.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2023)