Article
Psychiatry
Barbara D. Fontana, Florian Reichmann, Ceinwen A. Tilley, Perrine Lavlou, Alena Shkumatava, Nancy Alnassar, Courtney Hillman, Karl aegir Karlsson, William H. J. Norton, Matthew O. Parker
Summary: Externalizing disorders (ED) are a public health concern and have a high heritability. The ADGRL3 gene is strongly associated with EDs and affects various ED-related behaviors. This study found that adgrl3.1(-/-) zebrafish exhibited impulsive, risk-taking, attention deficits, and hyperactive behaviors, which could be rescued by atomoxetine. Transcriptomic analysis revealed potential functional pathways and targets for the treatment of ED.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Nutrition & Dietetics
Yushan Zhang, Zhaohuan Gui, Nan Jiang, Xueya Pu, Meiling Liu, Yingqi Pu, Shan Huang, Shaoyi Huang, Yajun Chen
Summary: Consumption of sugar-sweetened beverages (SSBs) has increased significantly and may lead to various health problems. Studies on the association between SSBs and attention-deficit/hyperactivity disorder (ADHD) in children are limited and inconsistent. We conducted a study on 6541 students aged 6-12, using a two-stage cluster sampling method. Our findings suggest that SSB intake is positively correlated with the risk of hyperactivity in children.
Article
Pediatrics
Melika Darzi, Khadijeh Abbasi, Reza Ghiasvand, Mohsen Akhavan Tabib, Mohammad Hossein Rouhani
Summary: This study aimed to investigate the relationship between dietary polyphenol intake and the risk of ADHD in preschool and school children. By studying 400 children, it was found that increased dietary intake of polyphenols is associated with a lower risk of ADHD.
Article
Multidisciplinary Sciences
Ali Khorshidi, Marzieh Rostamkhani, Roya Farokhi, Abbas Abbasi-Ghahramanloo
Summary: Aging poses a major challenge to the development and growth of countries worldwide. This study identified subgroups of the elderly based on their quality of life, sleep quality, and common mental disorders, and examined the influence of demographic characteristics on subgroup membership. Three subgroups were identified: healthy, anxious with poor sleep quality, and unhealthy. Being female, living in urban areas, and illiteracy were found to increase the odds of belonging to certain subgroups. These results highlight the co-occurrence of health problems among a significant portion of the elderly population.
SCIENTIFIC REPORTS
(2022)
Article
Pediatrics
Li-Fan Pai, Der-Shiun Wang, Wan-Fu Hsu, Shao-Wei Huang, Chi-Hsiang Chung, Shyi-Jou Chen, Wu-Chien Chien, Der-Ming Chu
Summary: This study found that children with ADHD have a higher risk of central precocious puberty. Early referral to a pediatric endocrinologist for evaluation can lead to correct diagnosis. Early intervention treatment with gonadotropin-releasing hormone agonist may improve final height in children with central precocious puberty.
PEDIATRIC RESEARCH
(2022)
Article
Psychiatry
Jecintha J. Bala, Joel D. Bala, Jill P. Pell, Michael Fleming
Summary: This study found a potential dose-response relationship between Apgar score and treated ADHD, independent of confounders. Compared to an Apgar score of 10, the risk of treated ADHD was higher for scores of 0-3 (adjusted OR 1.76, 95% CI 1.32-2.34), 4-6 (adjusted OR 1.50, 95% CI 1.21-1.86), and even 7-9 (adjusted OR 1.26, 95% CI 1.18-1.36) which are traditionally considered within the normal range.
Article
Medicine, General & Internal
Grace Mengqin Ge, Edmund C. L. Cheung, Kenneth K. C. Man, Patrick Ip, Wing Cheong Leung, Gloria H. Y. Li, Annie W. C. Kung, Ching-Lung Cheung, Ian C. K. Wong
Summary: The study found that maternal levothyroxine treatment during pregnancy is associated with an increased risk of preterm birth in offspring, but not significantly associated with low birth weight, ADHD, or ASD.
Article
Endocrinology & Metabolism
Guifeng Xu, Buyun Liu, Wenhan Yang, Linda G. Snetselaar, Jin Jing
Summary: In a nationally representative sample of US adults, there is a significant association between a history of ADHD diagnosis and diabetes, which remains consistent across different age, gender, race/ethnicity, and obesity statuses.
JOURNAL OF DIABETES
(2021)
Article
Medicine, General & Internal
Jian Yang, Xiaoyan He, Li Qian, Binbin Zhao, Yajuan Fan, Fengjie Gao, Bin Yan, Feng Zhu, Xiancang Ma
Summary: This study investigated the causal effects of plasma proteome on ASD, ADHD, and TS using the two-sample Mendelian Randomization approach. The findings indicate that increased levels of MAPKAPK3 and MRPL33 are associated with a higher risk of ASD, while increased MANBA levels are associated with a lower risk of ADHD. These causal associations were robust in sensitivity analysis, suggesting the involvement of the MAPK/ERK signaling pathway and mitochondrial dysfunction in the pathogenesis of ASD, and a role of beta-mannosidase deficiency in the development of ADHD.
Article
Neurosciences
Gustavo Sudre, Marine Bouyssi-Kobar, Luke Norman, Wendy Sharp, Saadia Choudhury, Philip Shaw
Summary: The study found significant heritability in the rates of change of white matter tract microstructural properties and connectivity between different brain networks. Changes in hyperactivity-impulsivity were associated with heritable changes in white matter tracts metrics and connectivity between attention and cognitive networks. This suggests that these heritable ADHD-associated neural phenotypes can be useful for future gene discovery and understanding.
BIOLOGICAL PSYCHIATRY
(2021)
Article
Psychology, Clinical
Nicholas P. Ryan, Cathy Catroppa, Storm Courtney Ward, Keith Owen Yeates, Louise Crossley, Marisa Hollenkamp, Stephen Hearps, Miriam H. Beauchamp, Vicki A. Anderson
Summary: This study investigated the effect of childhood traumatic brain injury (TBI) on the brain morphometry of higher-order cognitive networks, and found that severe TBI can lead to altered brain structure within these networks, which is associated with secondary attention-deficit/hyperactivity disorder (s-ADHD) symptoms. The study also identified altered default-mode network (DMN) morphometry as an independent predictor of symptom severity.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Public, Environmental & Occupational Health
Nichole L. Nidey, Allison M. Momany, Lane Strathearn, Knute D. Carter, George L. Wehby, Wei Bao, Guifeng Xu, Francesca A. Scheiber, Karen Tabb, Tanya E. Froehlich, Kelli Ryckman
Summary: The study found that children born to mothers with perinatal depression were more likely to be diagnosed with ADHD, suggesting the need for increased interventions and screening efforts targeted towards this vulnerable population to reduce the adverse consequences of ADHD.
ANNALS OF EPIDEMIOLOGY
(2021)
Article
Psychology, Multidisciplinary
Morgan M. Grotewiel, Megan E. Crenshaw, Amelia Dorsey, Elizabeth Street
Summary: Hyperfocus and flow are intense concentration experiences associated with reduced perception of irrelevant stimuli and improved task performance. Hyperfocus has been historically seen as a symptom of ADHD, autism, or schizophrenia, while flow is regarded as an enjoyable experience in positive psychology. Recent studies suggest that hyperfocus and flow may be the same phenomenon viewed from different perspectives.
CURRENT PSYCHOLOGY
(2023)
Article
Psychiatry
Thais Martins-Silva, Juliana dos Santos Vaz, Julia Pasqualini Genro, Mara Helena Hutz, Christian Loret de Mola, Nina Roth Mota, Isabel Oliveira, Denise Petrucci Gigante, Ricardo Tavares Pinheiro, Eduardo Vitola, Eugenio Grevet, Bernardo L. Horta, Luis Augusto Rohde, Luciana Tovo-Rodrigues
Summary: The study found an association between obesity and ADHD, with BMI and FM being related to ADHD. The BMI polygenic risk score was associated with ADHD, and genes related to the reward system may play a role in this association.
JOURNAL OF PSYCHIATRIC RESEARCH
(2021)
Article
Health Care Sciences & Services
Min-Jing Lee, Hsin-Chih Lai, Yu-Lun Kuo, Vincent Chin-Hung Chen
Summary: This study investigated the relationship between gut microbiome and emotional-behavioral symptoms in children with attention-deficit/hyperactivity disorder (ADHD). The results showed that children with ADHD had lower diversity in their gut microbiota compared to the healthy control group. Certain bacteria phylotypes were found to be significantly associated with emotional-behavioral symptoms in children with ADHD. However, further research is needed to understand the exact mechanisms underlying the role of gut microbiota in ADHD pathophysiology.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Gastroenterology & Hepatology
Judith R. Kelsen, Noor Dawany, Maire A. Conrad, Tatiana A. Karakasheva, Kelly Maurer, Jane M. Wei, Selen Uman, Maiah H. Dent, Rithika Behera, Laura M. Bryant, Xianghui Ma, Leticia Moreira, Priya Chatterji, Rawan Shraim, Audrey Merz, Rei Mizuno, Lauren A. Simon, Amanda B. Muir, Claudio Giraudo, Edward M. Behrens, Kelly A. Whelan, Marcella Devoto, Pierre A. Russo, Sarah F. Andres, Kathleen E. Sullivan, Kathryn E. Hamilton
Summary: The study evaluated functional and transcriptomic differences between pediatric IBD (including very early onset and older onset patients) and non-IBD epithelium using biopsy-derived organoids. Results showed decreased growth efficiency in IBD patient enteroids and colonoids associated with inflammation, as well as upregulation of specific antigen presentation genes in colonoids from pediatric IBD patients. Enhanced, persistent epithelial antigen presentation gene expression in patient colonoids suggests a potential role of epithelial cell-intrinsic differences in IBD pathogenesis.
INFLAMMATORY BOWEL DISEASES
(2021)
Article
Multidisciplinary Sciences
Ditte Demontis, Raymond K. Walters, Veera M. Rajagopal, Irwin D. Waldman, Jakob Grove, Thomas D. Als, Soren Dalsgaard, Marta Ribases, Jonas Bybjerg-Grauholm, Maria Baekvad-Hansen, Thomas Werge, Merete Nordentoft, Ole Mors, Preben Bo Mortensen, Bru Cormand, David M. Hougaard, Benjamin M. Neale, Barbara Franke, Stephen Faraone, Anders D. Borglum
Summary: This study identified three genome-wide significant loci for ADHD comorbid with DBDs, with one locus on chromosome 11 found to be a strong risk locus across European and Chinese ancestries. The findings suggest an increased load of common risk variants in ADHD+DBDs compared to ADHD without DBDs, particularly in association with aggressive behavior.
NATURE COMMUNICATIONS
(2021)
Correction
Multidisciplinary Sciences
Ditte Demontis, Raymond K. Walters, Veera M. Rajagopal, Irwin D. Waldman, Jakob Grove, Thomas D. Als, Soren Dalsgaard, Marta Ribases, Jonas Bybjerg-Grauholm, Maria Baekvad-Hansen, Thomas Werge, Merete Nordentoft, Ole Mors, Preben Bo Mortensen, Bru Cormand, David M. Hougaard, Benjamin M. Neale, Barbara Franke, Stephen V. Faraone, Anders D. Borglum
NATURE COMMUNICATIONS
(2021)
Article
Gastroenterology & Hepatology
Jodie Ouahed, Judith R. Kelsen, Waldo A. Spessott, Kameron Kooshesh, Maria L. Sanmillan, Noor Dawany, Kathleen E. Sullivan, Kathryn E. Hamilton, Voytek Slowik, Sergey Nejentsev, Joao Farela Neves, Helena Flores, Wendy K. Chung, Ashley Wilson, Kwame Anyane-Yeboa, Karen Wou, Preti Jain, Michael Field, Sophia Tollefson, Maiah H. Dent, Dalin Li, Takeo Naito, Dermot P. B. McGovern, Andrew C. Kwong, Faith Taliaferro, Jose Ordovas-Montanes, Bruce H. Horwitz, Daniel Kotlarz, Christoph Klein, Jonathan Evans, Jill Dorsey, Neil Warner, Abdul Elkadri, Aleixo M. Muise, Jeffrey Goldsmith, Benjamin Thompson, Karin R. Engelhardt, Andrew J. Cant, Sophie Hambleton, Andrew Barclay, Agnes Toth-Petroczy, Dana Vuzman, Nikkola Carmichael, Corneliu Bodea, Christopher A. Cassa, Marcella Devoto, Richard L. Maas, Edward M. Behrens, Claudio G. Giraudo, Scott B. Snapper
Summary: This study identified damaging variants in the STXBP3 gene in ten patients from five families with a unique clinical presentation of early onset IBD, bilateral sensorineural hearing loss, and recurrent infections. These mutations interfere with intracellular vesicular trafficking, leading to reduced STXBP3 protein expression and defects in cell polarity. Overall, this study highlights the critical role of STXBP3 in VEOIBD, sensorineural hearing loss, and immune dysregulation.
JOURNAL OF CROHNS & COLITIS
(2021)
Article
Allergy
Trusha Patel, Sarah E. Henrickson, Emily K. Moser, Natania S. Field, Kelly Maurer, Noor Dawany, Maire Conrad, Nancy Bunin, Jason L. Freedman, Jennifer Heimall, Danielle E. Arnold, Jing Wang, Jonathan E. Markowitz, Sarah Beth Payne-Poff, Kelli W. Williams, Pierre A. Russo, E. John Wherry, Marcella Devoto, Paula Oliver, Kathleen E. Sullivan, Judith R. Kelsen
Summary: This study reports unique clinical features of ITCH deficiency including colonic very-early-onset inflammatory bowel disease, arthritis, and uveitis, in the setting of immune dysregulation. The research also demonstrates that HCT can be an effective and potentially curative therapy for ITCH deficiency.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2021)
Article
Biochemistry & Molecular Biology
Marianna Caterino, Michele Costanzo, Roberta Fedele, Armando Cevenini, Monica Gelzo, Alessandro Di Minno, Immacolata Andolfo, Mario Capasso, Roberta Russo, Anna Annunziata, Cecilia Calabrese, Giuseppe Fiorentino, Maurizio D'Abbraccio, Chiara Dell'Isola, Francesco Maria Fusco, Roberto Parrella, Gabriella Fabbrocini, Ivan Gentile, Giuseppe Castaldo, Margherita Ruoppolo
Summary: The study conducted a mass spectrometry-based targeted metabolomic analysis on 52 hospitalized COVID-19 patients, revealing distinct changes in serum metabolites levels, particularly increased levels of lactic acid in all forms of the disease. Pathway analysis indicated dysregulation in energy production and amino acid metabolism. Overall, the variations in the serum metabolome of COVID-19 patients suggest a systemic perturbation induced by SARS-CoV-2, potentially affecting liver metabolism of carbon and nitrogen.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Alessandro Testori, Zalman Vaksman, Sharon J. Diskin, Hakon Hakonarson, Mario Capasso, Achille Iolascon, John M. Maris, Marcella Devoto
Summary: Neuroblastoma is less common in African American children, but they more frequently develop the high-risk form of the disease. The study suggests that several common variants contribute to neuroblastoma risk in an ancestry-specific fashion.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2022)
Article
Oncology
Vito Alessandro Lasorsa, Annalaura Montella, Sueva Cantalupo, Matilde Tirelli, Carmen de Torres, Sanja Aveic, Gian Paolo Tonini, Achille Iolascon, Mario Capasso
Summary: This study focuses on noncoding cis-regulatory variants in neuroblastoma and identifies somatic mutations in regulatory elements that play a role in tumorigenesis. The findings highlight the importance of assessing these variants and long-range interactions in understanding the drivers of neuroblastoma.
Article
Biochemistry & Molecular Biology
Lorella Paparo, Maria Antonia Maglio, Maddalena Cortese, Cristina Bruno, Mario Capasso, Erika Punzo, Veronica Ferrucci, Vito Alessandro Lasorsa, Maurizio Viscardi, Giovanna Fusco, Pellegrino Cerino, Alessia Romano, Riccardo Troncone, Massimo Zollo
Summary: FBA, a new butyrate releaser, exerts a preventive action against SARS-CoV-2 infection, which could be considered as an innovative strategy to limit COVID-19.
Review
Genetics & Heredity
Letteria Anna Morabito, Anna Elsa Maria Allegri, Anna Paola Capra, Mario Capasso, Valeria Capra, Alberto Garaventa, Mohamad Maghnie, Silvana Briuglia, Malgorzata Gabriela Wasniewska
Summary: Osteogenesis imperfecta/Ehlers-Danlos (OI/EDS) overlap syndrome is a clinical entity characterized by features of both osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS). This article reports a case of a young Caucasian girl with severe short stature and a previous history of neuroblastoma, who displayed the compound phenotype of OI/EDS.
Article
Biochemistry & Molecular Biology
Fabio Pastorino, Mario Capasso, Chiara Brignole, Serena Giglio, Veronica Bensa, Sueva Cantalupo, Vito Alessandro Lasorsa, Annalisa Tondo, Rossella Mura, Angela Rita Sementa, Alberto Garaventa, Mirco Ponzoni, Loredana Amoroso
Summary: Neuroblastoma is the most common extracranial solid tumor in childhood. The prognosis for patients with metastatic relapse or refractory disease is poor. The integration of genome sequencing into standard clinical practice is necessary for personalized therapy. In this study, whole exome sequencing was performed on two patients with relapsed NB, and actionable genetic variations were identified and treated accordingly. The results demonstrate the feasibility of incorporating clinical WES into pediatric oncology practice.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Daniel J. Weiner, Emi Ling, Serkan Erdin, Derek J. C. Tai, Rachita Yadav, Jakob Grove, Jack M. Fu, Ajay Nadig, Caitlin E. Carey, Nikolas Baya, Jonas Bybjerg-Grauholm, Sabina Berretta, Evan Z. Macosko, Jonathan Sebat, Luke J. O'Connor, David M. Hougaard, Anders D. Borglum, Michael E. Talkowski, Steven A. McCarroll, Elise B. Robinson
Summary: Using a new statistical approach, this study identified the 33-Mb p-arm of chromosome 16 (16p) as harboring the greatest excess of autism's common polygenic influences. Both the rare 16p11.2 deletion and common variations lead to decreased gene expression across the entire 16p region, with transcriptional effects correlated at the individual gene level.
Article
Genetics & Heredity
Alessandro De Falco, Daniele De Brasi, Matteo Della Monica, Claudia Cesario, Stefano Petrocchi, Antonio Novelli, Giuseppe D'Alterio, Achille Iolascon, Mario Capasso, Carmelo Piscopo
Summary: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects multiple organs. This study presents clinical and genetic findings of a patient with CdLS type 4, a syndrome that has been rarely described before. The patient exhibited previously reported clinical features of CdLS type 4 as well as additional symptoms not mentioned previously. The novel genetic variant found in this patient suggests its pathogenicity. This report provides valuable insights for counseling future CdLS type 4 cases.
Article
Oncology
Fabio Pastorino, Mario Capasso, Chiara Brignole, Vito A. Lasorsa, Veronica Bensa, Patrizia Perri, Sueva Cantalupo, Serena Giglio, Massimo Provenzi, Marco Rabusin, Elvira Pota, Monica Cellini, Annalisa Tondo, Maria A. De Ioris, Angela R. Sementa, Alberto Garaventa, Mirco Ponzoni, Loredana Amoroso
Summary: Approximately 50% of high-risk neuroblastomas (NB) relapse within two years after treatment, and additional therapeutic options are needed for relapsed or refractory patients. The identification of ALK somatic mutations or amplification is crucial for the treatment of these patients. ALK inhibitors may have a significant role in treating high-risk, ALK-mutated NB patients in the era of precision medicine.
Article
Multidisciplinary Sciences
Daniele Pirone, Annalaura Montella, Daniele G. Sirico, Martina Mugnano, Massimiliano M. Villone, Vittorio Bianco, Lisa Miccio, Anna Maria Porcelli, Ivana Kurelac, Mario Capasso, Achille Iolascon, Pier Luca Maffettone, Pasquale Memmolo, Pietro Ferraro
Summary: In this study, we introduce a machine learning-powered tomographic phase imaging flow cytometry system that can provide high-throughput 3D phase-contrast tomograms of individual cells for the identification of circulating tumor cells in microfluidic cytometry condition. We propose a hierarchical machine learning decision-maker that utilizes 3D morphological features calculated from the cells' refractive index to accurately discriminate tumor cells from white blood cells as well as identify the tumor type. Experimental results demonstrate a success rate of over 97% in identifying tumor cells and an accuracy of over 97% in discriminating between different cancer cell types, highlighting the potential of this stain-free liquid biopsy tool for detecting and classifying circulating tumor cells in blood.
SCIENTIFIC REPORTS
(2023)