Article
Endocrinology & Metabolism
Raffaella Rossetti, Silvia Moleri, Fabiana Guizzardi, Davide Gentilini, Laura Libera, Anna Marozzi, Costanzo Moretti, Francesco Brancati, Marco Bonomi, Luca Persani
Summary: Primary ovarian insufficiency (POI) is a major cause of female infertility, potentially due to premature loss of ovarian function. The disorder is highly heterogeneous, with various clinical phenotypes and a genetic component. Research suggests POI may be an oligogenic disease, with new candidates for investigation.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Urology & Nephrology
Jose Lazaro-Guevara, Julio Fierro-Morales, A. Hunter Wright, River Gunville, Christopher Simeone, Scott G. Frodsham, Melissa H. Pezzolesi, Courtney A. Zaffino, Laith Al-Rabadi, Nirupama Ramkumar, Marcus G. Pezzolesi
Summary: This study investigated the genetic basis of nondiabetic kidney disease (NDKD) and diabetic kidney disease (DKD) through targeted NGS, finding rare diagnostic variants consistent with clinical diagnoses in 19% of NDKD patients and in 22% of DKD patients. Additionally, genetic variants suggestive of NDKD were detected in 3% of diabetic patients. These findings suggest that rare variants in kidney disease-related genes may contribute to the pathogenesis of DKD and NDKD in patients with diabetes.
AMERICAN JOURNAL OF NEPHROLOGY
(2021)
Review
Genetics & Heredity
Martin Broberg, Johanna Hastbacka, Emmi Helle
Summary: Congenital heart defects (CHD) are developmental malformations affecting the heart and great vessels, influenced by multiple factors including genetics and the environment. While some variants with Mendelian inheritance have been identified, the inheritance pattern in most non-syndromic CHD cases is complex and variable.
Review
Cell Biology
Kavitha S. Rao, Vasumathi Kameswaran, Benoit G. Bruneau
Summary: Congenital heart defects are common birth defects with unknown causes. Recent development of experimental models, including mouse models and human cellular models, have helped to enhance our understanding of the molecular basis of these defects. The development of cardiac organoids also shows promise in creating more anatomically informative human models of congenital heart defects.
GENES & DEVELOPMENT
(2022)
Article
Genetics & Heredity
Wei-Zhen Zhou, Wenke Li, Huayan Shen, Ruby W. Wang, Wen Chen, Yujing Zhang, Qingyi Zeng, Hao Wang, Meng Yuan, Ziyi Zeng, Jinhui Cui, Chuan-Yun Li, Fred Y. Ye, Zhou Zhou
Summary: This study developed an evidence-based knowledgebase of congenital heart disease (CHD) that provides comprehensive information on CHD-related genes and clinical manifestations. Through the integration of data from 1114 publications, it links 1124 susceptibility genes and 3591 variations to over 300 CHD types and related syndromes. The knowledgebase also includes functional annotations from 50 databases/tools to facilitate the interpretation of gene and variation effects on disease pathogenicity. A core CHD sub-network of 163 genes was extracted using a gene interaction network approach. Overall, CHDbase is a valuable resource for studying CHD susceptibilities.
GENOMICS PROTEOMICS & BIOINFORMATICS
(2023)
Review
Engineering, Biomedical
Cheng Lin, Liwu Liu, Yanju Liu, Jinsong Leng
Summary: Transcatheter closure is widely accepted as a highly effective treatment for abnormal blood flow in the heart, allowing closure of various congenital heart defects and stroke-related conditions. Advances in occlusion devices, including biodegradable and 3D-printed options, offer improved biocompatibility and customization. The review highlights materials, configurations, manufacturing methods, deployment strategies, and potential future directions for next-generation occlusion devices.
ACTA BIOMATERIALIA
(2021)
Article
Immunology
M. Elfishawi, G. Mossallam, D. G. Augusto, G. Montero-Martin, H. de Bruin, L. Van de Pasch, P. J. Norman, E. Rozemuller, M. Fernandez-Vina, A. Abrudescu, J. A. Hollenbach, K. Zaky, S. Elfishawi
Summary: Behcet disease is a multi-system disease associated with HLA class I polymorphism. A study found that in Egyptian patients, HLA-B*51:08 is the most common susceptibility allele and is associated with poor prognosis for eye involvement.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
(2021)
Article
Clinical Neurology
Jakub Scaber, Alexander G. Thompson, Lucy Farrimond, Emily Feneberg, Malcolm Proudfoot, Lynn Ossher, Martin R. Turner, Kevin Talbot
Summary: This study demonstrates that expanding genetic testing to all patients diagnosed with ALS can enhance recruitment potential for clinical trials, but also has significant resource implications for genetic counseling.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Medicine, Research & Experimental
Hager Jaouadi, Chris Jopling, Fanny Bajolle, Alexis Theron, Adele Faucherre, Hilla Gerard, Sarab Al Dybiat, Caroline Ovaert, Damien Bonnet, Jean-Francois Avierinos, Stephane Zaffran
Summary: This study analyzed genetic variants in a cohort of BAV patients and found that only 10% of adult BAV patients had missense variants in ROBO and SLIT genes, while 61% of pediatric cases carried variants in these genes. Family segregation analysis showed that the ROBO4 gene variants followed an autosomal recessive pattern of inheritance. These findings suggest that the ROBO4 gene is not only implicated in BAV, but also in ToF.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Physiology
Agnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Beatrice Thivichon-Prince, Tatjana Dostalova, Milan Macek Jr, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzua Orellana, Marie-Cecile Maniere, Benedicte Gerard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter
Summary: In this study, next-generation sequencing was used to analyze a cohort of Amelogenesis imperfecta (AI) patients, revealing more than 70 genes associated with AI. The findings showed that 73% of the cases were non-syndromic AI and 27% were syndromic AI. The genetic diagnosis provided important insights for the diagnosis and treatment of AI. This study demonstrated the potential of next-generation sequencing in AI research and provided new insights into the classification and treatment of AI.
FRONTIERS IN PHYSIOLOGY
(2023)
Review
Health Care Sciences & Services
Olga Maria Diz, Rocio Toro, Sergi Cesar, Olga Gomez, Georgia Sarquella-Brugada, Oscar Campuzano
Summary: Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels, with genetic variants playing a key role. High-throughput genetic technologies can help identify pathogenic factors. Early diagnosis and personalized treatment are crucial due to the high incidence and associated complications.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Genetics & Heredity
Emily P. McCann, Lyndal Henden, Jennifer A. Fifita, Katharine Y. Zhang, Natalie Grima, Denis C. Bauer, Sandrine Chan Moi Fat, Natalie A. Twine, Roger Pamphlett, Matthew C. Kiernan, Dominic B. Rowe, Kelly L. Williams, Ian P. Blair
Summary: A study involving 757 sporadic ALS cases from Australia identified 43 ALS-implicated variants from 18 genes, with about one-third of cases carrying at least one variant. Oligogenic/polygenic sporadic ALS cases showed earlier age of onset.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Microbiology
Yi-Rong Zheng, Shi-Hao Lin, Yu-Kun Chen, Hua Cao, Qiang Chen
Summary: mNGS is a valuable tool to determine the etiology of infants with severe pneumonia after congenital heart surgery. It can improve the sensitivity of pathogen detection and enhance the accuracy of treatment outcomes.
FRONTIERS IN MICROBIOLOGY
(2022)
Article
Genetics & Heredity
Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stephanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson
Summary: This study analyzed exome data of PCH patients and found causal variants in known hydrocephalus genes, as well as identified novel candidate genes. It also provided preliminary evidence for oligogenic inheritance involving primary cilia in PCH.
Review
Biochemistry & Molecular Biology
Adrian Dockery, Laura Whelan, Pete Humphries, G. Jane Farrar
Summary: Inherited retinal diseases (IRDs) encompass a variety of genetically diverse conditions with phenotypic variations, researchers utilize cutting-edge sequencing techniques to identify elusive causes, providing accurate diagnoses and informed prognoses for family planning and medical interventions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Jonathan J. Edwards, Simone Martinelli, Luca Pannone, Ivan Fai-Man Lo, Lisong Shi, Lisa Edelmann, Marco Tartaglia, Ho-Ming Luk, Bruce D. Gelb
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2014)
Article
Cardiac & Cardiovascular Systems
Abigail S. Carey, Li Liang, Jonathan Edwards, Tracy Brandt, Hui Mei, Andrew J. Sharp, Daphne T. Hsu, Jane W. Newburger, Richard G. Ohye, Wendy K. Chung, Mark W. Russell, Jill A. Rosenfeld, Lisa G. Shaffer, Michael K. Parides, Lisa Edelmann, Bruce D. Gelb
CIRCULATION-CARDIOVASCULAR GENETICS
(2013)
Article
Genetics & Heredity
Perundurai S. Dhandapany, Md Abdur Razzaque, Uthiralingam Muthusami, Sreejith Kunnoth, Jonathan J. Edwards, Sonia Mulero-Navarro, Ilan Riess, Sherly Pardo, Jipo Sheng, Deepa Selvi Rani, Bindu Rani, Periyasamy Govindaraj, Elisabetta Flex, Tomohiro Yokota, Michiko Furutani, Tsutomu Nishizawa, Toshio Nakanishi, Jeffrey Robbins, Giuseppe Limongelli, Roger J. Hajjar, Djamel Lebeche, Ajay Bahl, Madhu Khullar, Andiappan Rathinavel, Kirsten C. Sadler, Marco Tartaglia, Rumiko Matsuoka, Kumarasamy Thangaraj, Bruce D. Gelb
Article
Pediatrics
Jonathan J. Edwards, Chaya Murali, Jennifer Pogoriler, David B. Frank, Stephanie S. Handler, Mathew A. Deardorff, Rachel K. Hopper
JOURNAL OF PEDIATRICS
(2019)
Article
Cardiac & Cardiovascular Systems
Jonathan J. Edwards, Naomi Seliktar, Rachel White, Steven D. Heron, Kimberly Lin, Joseph Rossano, Dimitri Monos, Deborah Sesok-Pizzini, Matthew J. O'Connor
JOURNAL OF HEART AND LUNG TRANSPLANTATION
(2019)
Article
Cardiac & Cardiovascular Systems
Jonathan B. Edelson, Jonathan J. Edwards, Hannah Katcoff, Antara Mondal, Nosheen Reza, Thomas C. Hanff, Heather Griffis, Jeremy A. Mazurek, Joyce Wald, Anjali T. Owens, Danielle S. Burstein, Pavan Atluri, Matthew J. O'Connor, Lee R. Goldberg, Payman Zamani, Peter W. Groeneveld, Joseph W. Rossano, Kimberly Y. Lin, Edo Y. Birati
Summary: This study provides a detailed characterization of the growing ED resource use and financial burden of patients supported by VADs using national-level data. From 2010 to 2017, the number of VAD-related ED visits increased 16-fold, with a decrease in admission and mortality rates.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Cardiac & Cardiovascular Systems
Jonathan J. Edwards, Jonathan B. Edelson, Hannah Katcoff, Antara Mondal, Debra Lefkowitz, Nosheen Reza, Thomas C. Hanff, Heather Griffis, Jeremy A. Mazurek, Joyce Wald, Anjali T. Owens, Carol A. Wittlieb-Weber, Danielle S. Burstein, Pavan Atluri, Matthew J. O'Connor, Lee R. Goldberg, Payman Zamani, Peter W. Groeneveld, Joseph W. Rossano, Kimberly Y. Lin, Edo Y. Birati
Summary: Limited data are available on the prevalence of mental health disorders in patients with ventricular assist devices (VADs) and their associations with resource use and outcomes. An analysis of 44,041 emergency department encounters for VAD-supported adults revealed that 23% of encounters had MHDO diagnoses, which were linked to higher charges and admission rates, but lower mortality.
AMERICAN HEART JOURNAL
(2021)
Article
Engineering, Biomedical
Jonathan J. Edwards, Jonathan B. Edelson, Antara Mondal, Hannah Katcoff, Nosheen Reza, Heather Griffis, Danielle S. Burstein, Carol A. Wittlieb-Weber, Matthew J. O'Connor, Joseph W. Rossano, Chitra Ravishankar, Christopher Mascio, Edo Y. Birati, Kimberly Y. Lin
Summary: This study analyzed the emergency department resource utilization and outcomes of pediatric and young adult ventricular assist device (VAD)-supported patients. The results showed that high acuity presentations and comorbidities had a greater impact on clinical outcomes than age. Therefore, reducing morbidity in this population should focus on comorbidities and early recognition of VAD-related complications.
Article
Cardiac & Cardiovascular Systems
Jonathan B. Edelson, Jonathan J. Edwards, Hannah Katcoff, Antara Mondal, Feiyan Chen, Nosheen Reza, Thomas C. Hanff, Heather Griffis, Jeremy A. Mazurek, Joyce Wald, Danielle S. Burstein, Pavan Atluri, Matthew J. O'Connor, Lee R. Goldberg, Payman Zamani, Peter W. Groeneveld, Joseph W. Rossano, Kimberly Y. Lin, Edo Y. Birati
Summary: This study established a risk model to predict mortality in patients with ambulatory ventricular assist devices who present to the emergency department. The risk score showed good predictive ability and can be a useful tool for clinical decision-making.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Cardiac & Cardiovascular Systems
Jonathan J. Edwards, Matthew A. Harris, Amir Toib, Danielle S. Burstein, Joseph W. Rossano
Summary: Cardiac disease in pediatric patients due to COVID-19 can manifest as myocarditis and multisystem inflammatory syndrome. This case report describes an infant with severe myocarditis caused by COVID-19, necessitating extracorporeal membrane oxygenation. A unique finding of localized septal thickening suggestive of hypertrophic cardiomyopathy was observed, but cardiac MRI confirmed the diagnosis of myocarditis. Serial echocardiography showed complete resolution of septal hypertrophy and normalized cardiac function.
PROGRESS IN PEDIATRIC CARDIOLOGY
(2022)
Article
Surgery
Jonathan B. Edelson, Xuemei Zhang, Andrew B. Goldstone, Joseph W. Rossano, Matthew J. O'Connor, J. William Gaynor, Jonathan J. Edwards, Carol Wittlieb-Weber, Katsuhide Maeda
Summary: Rejection remains a primary cause of graft loss after heart transplant. Combining heart transplant with kidney or liver transplant reduces the risk of rejection compared to isolated heart transplant.
CLINICAL TRANSPLANTATION
(2023)
Article
Multidisciplinary Sciences
Danielle Murashige, Cholsoon Jang, Michael Neinast, Jonathan J. Edwards, Alexis Cowan, Matthew C. Hyman, Joshua D. Rabinowitz, David S. Frankel, Zolt Arany