Review
Genetics & Heredity
Laura Mateu-Arrom, Lluis Puig
Summary: Psoriasis is a complex disease influenced by both genetic and environmental factors. Advances in genomic and epigenomic studies have provided insight into the underlying mechanisms of psoriasis, leading to the development of new drugs. This review aims to summarize the current evidence on the genetic and epigenetic mechanisms of psoriasis.
Article
Cardiac & Cardiovascular Systems
Jason D. Roberts, Eric Vittinghoff, Ake T. Lu, Alvaro Alonso, Biqi Wang, Colleen M. Sitlani, Pedrum Mohammadi-Shemirani, Myriam Fornage, Jelena Kornej, Jennifer A. Brody, Dan E. Arking, Honghuang Lin, Susan R. Heckbert, Ivana Prokic, Mohsen Ghanbari, Allan C. Skanes, Traci M. Bartz, Marco Perez, Kent D. Taylor, Steven A. Lubitz, Patrick T. Ellinor, Kathryn L. Lunetta, James S. Pankow, Guillaume Pare, Nona Sotoodehnia, Emelia J. Benjamin, Steve Horvath, Gregory M. Marcus
Summary: The study identified associations between epigenetic age acceleration measures and incident atrial fibrillation, indicating the importance of biological aging independent of chronological age. However, the potential underlying causal relationship remains unclear. These aging processes may be modifiable and not constrained by the immutable factor of time.
Article
Genetics & Heredity
Kaori Hara-Isono, Kazuki Yamazawa, Satsuki Tanaka, Eriko Nishi, Maki Fukami, Masayo Kagami
Summary: The paternal deletions involving KCNQ1OT1:TSS-DMR in the two patients resulted in increased CDKN1C expression and severe growth failure.
JOURNAL OF MEDICAL GENETICS
(2022)
Review
Biochemistry & Molecular Biology
Felipe Padilla-Martinez, Gladys Wojciechowska, Lukasz Szczerbinski, Adam Kretowski
Summary: This review summarizes recent studies on biomarkers for type 2 diabetes (T2D) based on circulating nucleic acids using genomic, transcriptomic, and epigenomic technologies. Several candidate biomarkers have been identified for the risk and diagnosis of T2D, the prognosis of T2D complications, and the pharmacodynamics of T2D treatments. Further validation in larger samples and non-invasive samples is needed to support the realization of precision medicine for T2D.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Neurosciences
Easwaran Ramamurthy, Gwyneth Welch, Jemmie Cheng, Yixin Yuan, Laura Gunsalus, David A. Bennett, Li-Huei Tsai, Andreas R. Pfenning
Summary: We analyzed the genome-wide histone 3 lysine 27 acetylation (H3K27ac) profile of three major brain cell types from the hippocampus and dorsolateral prefrontal cortex (dlPFC) of subjects with and without Alzheimer's Disease (AD). We found that single nucleotide polymorphisms (SNPs) associated with late onset AD (LOAD) are more likely to be located in microglia-specific gene regulatory elements. Furthermore, we observed that microglia have more acetylation changes associated with age, while an oligodendrocyte-enriched glial (OEG) population contains most of the acetylation changes associated with amyloid-beta (A beta) load. These findings suggest the involvement of oligodendrocyte gene regulation and the deregulation of myelinating processes in AD.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2023)
Article
Neurosciences
Shareefa Dalvie, Chris Chatzinakos, Obada Al Zoubi, Foivos Georgiadis, Lee Lancashire, Nikolaos P. Daskalakis
Summary: Many individuals encounter traumatic stress at some point in their lives, increasing the risk of developing stress-related disorders such as PTSD, MDD, and ANX, which are influenced by genetics. Genome-wide association studies have shown a genetic overlap between PTSD, depression, and anxiety disorders, with efforts also made to understand these complex disorders through gene-environment studies.
NEUROBIOLOGY OF STRESS
(2021)
Review
Allergy
Xu Xu, Jingyun Li, Yuan Zhang, Luo Zhang
Summary: ALOX15 is an important enzyme involved in airway inflammatory diseases, playing a role in promoting inflammation, immune cell migration, and airway remodeling. Variants and epigenetic modifications of the ALOX15 gene are closely correlated with the risk of developing airway diseases. The study suggests new treatment strategies for airway inflammatory diseases with complex etiology and poor treatment response.
ALLERGY ASTHMA & IMMUNOLOGY RESEARCH
(2021)
Review
Pediatrics
Flavia Barbieri, Elena Inzaghi, Manuela Caruso Nicoletti, Alessandra Cassio, Anna Grandone, Luisa De Sanctis, Carla Bizzarri
Summary: Puberty is a significant period in a person's life marked by various physical and psychological changes leading to sexual maturity. Factors such as genetics, environmental influences, and gene mutations play essential roles in the onset and progression of puberty. Understanding these mechanisms is crucial for identifying tailored therapeutic strategies.
MINERVA PEDIATRICS
(2021)
Article
Endocrinology & Metabolism
Sonia Garcia-Calzon, Silja Schrader, Alexander Perfilyev, Mats Martinell, Emma Ahlqvist, Charlotte Ling
Summary: The use of metformin in type 2 diabetes patients alters DNA methylation, with the majority of sites showing hypermethylation after treatment. This alteration can be observed in blood samples and is partially responsible for mediating metformin's antidiabetic effects.
DIABETES RESEARCH AND CLINICAL PRACTICE
(2023)
Article
Endocrinology & Metabolism
Lucas Paulo Jacinto Saavedra, Silvano Piovan, Veridiana Mota Moreira, Gessica Dutra Goncalves, Anna Rebeka Oliveira Ferreira, Maiara Vanusa Guedes Ribeiro, Maria Natalia Chimirri Peres, Douglas Lopes Almeida, Scarlett Rodrigues Raposo, Mariane Carneiro da Silva, Leticia Ferreira Barbosa, Paulo Cezar de Freitas Mathias
Summary: Studies have shown the relationship between exposure to stressors during development and health outcomes later in life. Understanding the susceptible phases of development and the associated epigenetic modifications can provide insights into disease susceptibility and interventions for prevention.
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
(2023)
Article
Biotechnology & Applied Microbiology
Pierre Baduel, Basile Leduque, Amandine Ignace, Isabelle Gy, Jose Gil, Olivier Loudet, Vincent Colot, Leandro Quadrana
Summary: This study reveals that transposable element (TE) mobilization is a major driver of genetic variation in A. thaliana, regulated by genetic and environmental factors. TE insertions occur at a similar rate to base substitutions, with individual TE families showing varying mobilization activities. High rates of transposition seem to be positively selected at the edge of the species' ecological niche.
Review
Biochemistry & Molecular Biology
Lukasz Ustianowski, Jakub Udzik, Joanna Szostak, Anna Goracy, Klaudia Ustianowska, Andrzej Pawlik
Summary: This narrative review discusses the role of genetic and epigenetic factors in the pathogenesis of gestational diabetes mellitus (GDM) and explores the risk factors of GDM, including obesity, advanced maternal age, and polycystic ovary syndrome.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Jan Binkowski, Olga Taryma-Lesnial, Katarzyna Ewa Sokolowska, Patrycja Kamila Przybylowicz, Melanie Staszewski, Tomasz Kazimierz Wojdacz
Summary: In this study, eDAVE, a user-friendly tool for analyzing a large amount of genomic data stored in the Genomic Data Commons repository, was introduced. This tool simplifies the process of data mining, allowing researchers to use these valuable research resources without advanced computational skills.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Karen Sliwa, Johann Bauersachs, Zolt Arany, Timothy F. Spracklen, Denise Hilfiker-Kleiner
Summary: Peripartum cardiomyopathy is a global disease that should be suspected in peripartum women with symptoms of heart failure. Urgent cardiac investigations and referral to a cardiology team for expert management are crucial. Advances in genetics, pathophysiology, diagnostic approach, management, and outcome have been achieved in understanding PPCM.
EUROPEAN HEART JOURNAL
(2021)
Review
Cardiac & Cardiovascular Systems
Karen Sliwa, Johann Bauersachs, Zolt Arany, Timothy F. Spracklen, Denise Hilfiker-Kleiner
Summary: Peripartum cardiomyopathy is a globally occurring disease that should be suspected in women during the peripartum period. The disease has significant maternal and neonatal morbidity and mortality rates, with nearly half of patients experiencing myocardial recovery. Team efforts and expert management are crucial in the diagnosis and treatment of this condition.
EUROPEAN HEART JOURNAL
(2021)
Article
Genetics & Heredity
E. Rose, N. Schreiber-Agus, K. Bajaj, S. Klugman, T. Goldwaser
JOURNAL OF GENETIC COUNSELING
(2016)
Article
Obstetrics & Gynecology
Barrie G. Suskin, Anthony M. Sciscione, Nickolas Teigen, Thomas C. Jenkins, Ronald J. Wapner, Anthony R. Gregg, Susan J. Gross, Komal Bajaj
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2016)
Article
Obstetrics & Gynecology
Komal Bajaj, Enid Y. Rivera-Chiauzzi, Colleen Lee, Cynthia Shepard, Peter S. Bernstein, Tanya Moore-Murray, Heather Smith, Lisa Nathan, Katie Walker, Cynthia Chazotte, Dena Goffman
AMERICAN JOURNAL OF PERINATOLOGY
(2016)
Article
Genetics & Heredity
Christina Chen, Anne Greb, Isha Kalia, Komal Bajaj, Susan Klugman
JOURNAL OF GENETIC COUNSELING
(2017)
Article
Genetics & Heredity
Caitlin Cooney, Laura Hercher, Komal Bajaj
JOURNAL OF GENETIC COUNSELING
(2017)
Article
Genetics & Heredity
Francesca Romana Grati, Komal Bajaj, Valentina Zanatta, Francesca Malvestiti, Barbara Malvestiti, Livia Marcato, Beatrice Grimi, Federico Maggi, Giuseppe Simoni, Susan J. Gross, Jose Ferreira
PRENATAL DIAGNOSIS
(2017)
Editorial Material
Education, Scientific Disciplines
Komal Bajaj, Michael Meguerdichian, Brent Thoma, Simon Huang, Walter Eppich, Adam Cheng
Article
Health Care Sciences & Services
Komal Bajaj, Anjoinette Minors, Katie Walker, Michael Meguerdichian, Mary Patterson
SIMULATION IN HEALTHCARE-JOURNAL OF THE SOCIETY FOR SIMULATION IN HEALTHCARE
(2018)
Editorial Material
Health Care Sciences & Services
Victoria Brazil, Eve Isabelle Purdy, Komal Bajaj
BMJ QUALITY & SAFETY
(2019)
Article
Obstetrics & Gynecology
Wendy Wilcox, Komal Bajaj, Max C. Rossberg, Clementine Knight, Daryl Wieland, Yogangi Malhotra
JOURNAL OF PERINATOLOGY
(2021)
Editorial Material
Education, Scientific Disciplines
Komal Bajaj, Rebecca A. Szabo, Howard Liu, Yogangi Malhotra
Article
Health Care Sciences & Services
Anjoinette M. Minors, Tricia C. Yusaf, Suzanne K. Bentley, Daisy Grueso, Kimberly Campbell-Taylor, Marlene Harford, Sepideh Mehri, Lorren J. Williams, Komal Bajaj
Summary: This study aims to describe the findings on the application of no-go considerations during the in situ simulation of cardiac arrest in pregnancy in NYC Health + Hospitals. The cancellation considerations framework promotes standardized scheduling of simulations by balancing safety with clinical conditions. Tracking no-go data enhances safety and informs future simulation planning.
SIMULATION IN HEALTHCARE-JOURNAL OF THE SOCIETY FOR SIMULATION IN HEALTHCARE
(2023)
Article
Health Care Sciences & Services
Christina J. Yang, Vinay Saggar, Namal Seneviratne, Alex Janzen, Oark Ahmed, Maninder Singh, Andrew Restivo, Andrew Yoon, Komal Bajaj, Sadia T. Ahmed, Mary Moseley, Hillary Moss, Farrukh N. Jafri
Summary: This study implemented an in situ simulation protocol across five emergency departments to identify latent safety threats in acute airway management. The initiative successfully reduced the number of safety threats and equipment issues through two PDSA cycles. This unique study ran a structured in situ protocol across diverse institutions during a global pandemic.
JOINT COMMISSION JOURNAL ON QUALITY AND PATIENT SAFETY
(2023)
Article
Health Care Sciences & Services
Susan Eller, Jenny Rudolph, Stephanie Barwick, Sarah Janssens, Komal Bajaj
Summary: This manuscript presents a framework derived from the analysis of three successful ISS program implementations, providing a step-by-step guide to sustainably implement ISS programs.
ADVANCES IN SIMULATION
(2023)
Article
Emergency Medicine
Nur-Ain Nadir, Suzanne Bentley, Dimitrios Papanagnou, Komal Bajaj, Stephan Rinnert, Richard Sinert
WESTERN JOURNAL OF EMERGENCY MEDICINE
(2017)
Article
Obstetrics & Gynecology
Anna Collins, Annie Jacob, Esther Moss
Summary: This article reviews the current evidence on minimally-invasive surgery in high-risk endometrial cancer patients and identifies areas that require further research.
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
(2024)
Editorial Material
Obstetrics & Gynecology
Thomas D'Hooghe
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
(2024)
Editorial Material
Obstetrics & Gynecology
Thomas M. D'Hooghe
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
(2024)
Article
Obstetrics & Gynecology
Lina Youssef, Lea Testa, Francesca Crovetto, Fatima Crispi
Summary: Preeclampsia is a pregnancy-specific disease with an unknown precise cause. Multi-omics approaches have been used to study the molecular mechanisms of preeclampsia, and various genetic variants, altered gene expressions, potential biomarkers, and metabolic changes have been identified. Microbiomics studies have also found dysbiosis in the microbiota of pregnant women with preeclampsia. Further research is needed to integrate and translate these findings into clinical practice.
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
(2024)
