Article
Plant Sciences
Sovetgul Asekova, Eunyoung Oh, Krishnanand P. Kulkarni, Muhammad Irfan Siddique, Myoung Hee Lee, Jung In Kim, Jeong-Dong Lee, Minsu Kim, Ki-Won Oh, Tae-Joung Ha, Sung-Up Kim, Kwang-Soo Cho
Summary: Phytophthora blight caused by Phytophthora nicotianae is a highly destructive disease in sesame. Through QTL mapping and GWAS, candidate genes associated with PB resistance, such as SIN_1019016, were identified. These findings will be valuable for marker-assisted selection and functional analysis in sesame.
FRONTIERS IN PLANT SCIENCE
(2021)
Article
Agriculture, Dairy & Animal Science
Hiruni R. Wijesena, Dan J. Nonneman, Warren M. Snelling, Gary A. Rohrer, Brittney N. Keel, Clay A. Lents
Summary: The successful development of replacement gilts is crucial for their reproductive longevity and lifetime productivity. Selection for reproductive longevity is challenging due to low heritability and late expression. Age at puberty is an important indicator for reproductive longevity in pigs, and genomic sources of variation have been identified to improve genetic selection for early puberty. The identification of candidate genes and signaling pathways associated with age at puberty provides valuable insights into the biological mechanisms underlying pubertal development in gilts and can contribute to better genomic predictions for sow fertility and lifetime productivity.
JOURNAL OF ANIMAL SCIENCE
(2023)
Article
Medicine, General & Internal
Neil G. Hockstein, LaKresha Moultrie, Michelle Fisher, R. Christopher Mason, Derrick C. Scott, Joan F. Coker, Autumn Tuxward, Juliana Terheyden, Nolan Canter, Michael Coons, Saundra DeLauder, Tony Allen
Summary: This study found that the combination of campuswide mitigation policies and twice-weekly COVID-19 PCR screening was associated with a significant decrease in COVID-19 positivity at a residential historically Black university campus compared with the surrounding community.
Article
Agronomy
Decha Songtoasesakul, Wanchana Aesomnuk, Sarinthip Pannak, Jonaliza Lanceras Siangliw, Meechai Siangliw, Theerayut Toojinda, Samart Wanchana, Siwaret Arikit
Summary: Rice, as a staple food crop, is crucial for global food security, but soil salinity hampers its productivity. In this study, 160 RILs were evaluated for salt tolerance at the seedling stage, leading to the identification of nine QTLs associated with salt tolerance. The analysis of coding sequence variants and gene expression under salt stress highlighted 47 candidate genes, including Os01g0200700 and Os12g0625000, which could potentially improve rice productivity and resistance under salt stress conditions during the critical seedling stage.
Article
Biochemistry & Molecular Biology
Jianguo Li, Ahmed Adel Khatab, Lihua Hu, Liyan Zhao, Jiangyi Yang, Lingqiang Wang, Guosheng Xie
Summary: This study identified genes involved in cold stress and chilling accumulation in rice through GWAS, detecting a large number of SNPs and QTLs associated with cold stress and chilling acclimation. Additionally, new candidate genes were found, and genetic characteristics related to chilling acclimation were determined.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Yasuo Takahashi, Keiko Yamazaki, Yoichiro Kamatani, Michiaki Kubo, Koichi Matsuda, Satoshi Asai
Summary: This study identified a novel genetic locus associated with resistant hypertension in the Japanese population, as well as several loci with suggestive associations. The findings also highlighted biological processes related to resistant hypertension, emphasizing the importance of the nervous system in this condition.
SCIENTIFIC REPORTS
(2021)
Article
Clinical Neurology
A. H. D. Silva, M. Constantinides, A. Valetopoulou, P. Sgardelis, K. Mankad, F. D'Arco, I Jankovic, D. Thompson
Summary: The study evaluated the evaluation and management of post-surgical residual disease for low-grade intramedullary spinal cord tumours in childhood. Radical micro-surgical resection guided by intra-operative neurophysiological monitoring was effective in achieving maximal safe resection, functional outcome and tumour control. Despite evidence of residual disease in post-operative imaging, additional treatment was only required in one third of cases.
CHILDS NERVOUS SYSTEM
(2022)
Review
Pediatrics
Ido Ben Zvi, Dominic N. P. Thompson
Summary: Torticollis is a common condition in pediatric settings and should be considered a symptom rather than a diagnosis, with numerous potential causes and confusion in underlying diagnoses. Children with torticollis often present initially to primary care, which could lead to erroneous treatment in some cases. This review provides clinical assessment tools and early management strategies to aid pediatricians in guiding correct initial management, imaging, and specialist referrals for torticollis.
EUROPEAN JOURNAL OF PEDIATRICS
(2022)
Article
Oncology
Jamie Trotman, Ruth Armstrong, Helen Firth, Claire Trayers, James Watkins, Kieren Allinson, Thomas S. Jacques, James C. Nicholson, G. A. Amos Burke, Sam Behjati, Matthew J. Murray, Catherine E. Hook, Patrick Tarpey
Summary: This article presents the experience of the East of England Genomic Medicine Centre in conducting centralized WGS for children with cancer during the 100 K project, reporting its feasibility and clinical utility. The study found that WGS provided additional clinical value in the diagnosis of pediatric cancer, but also highlighted the need for local expertise in scrutinizing and clinically interpreting variant calls derived from centralized analysis.
BRITISH JOURNAL OF CANCER
(2022)
Article
Pathology
Victoria A. Bryant, Tom S. Jacques, Neil J. Sebire
Summary: This study investigates the causes of sudden unexpected death from natural causes in children aged 1-18 years through retrospective examination of autopsy records. The results show that infections are the most common cause of death, followed by non-infectious diseases, and a portion of deaths remain unexplained. There is no significant difference in the proportions of deaths between previously healthy children and those with pre-existing conditions.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Michael Zhang, Samuel W. Wong, Jason N. Wright, Matthias W. Wagner, Sebastian Toescu, Michelle Han, Lydia T. Tam, Quan Zhou, Saman S. Ahmadian, Katie Shpanskaya, Seth Lummus, Hollie Lai, Azam Eghbal, Alireza Radmanesh, Jordan Nemelka, Stephen Harward, Michael Malinzak, Suzanne Laughlin, Sebastien Perreault, Kristina R. M. Braun, Robert M. Lober, Yoon Jae Cho, Birgit Ertl-Wagner, Chang Y. Ho, Kshitij Mankad, Hannes Vogel, Samuel H. Cheshier, Thomas S. Jacques, Kristian Aquilina, Paul G. Fisher, Michael Taylor, Tina Poussaint, Nicholas A. Vitanza, Gerald A. Grant, Stefan Pfister, Eric Thompson, Alok Jaju, Vijay Ramaswamy, Kristen W. Yeom
Summary: This study developed machine learning strategies to identify the four clinically significant molecular subgroups of pediatric medulloblastoma using MRI, providing important information for risk stratification and therapeutic decision making.
Review
Clinical Neurology
Cillian McNamara, Kshitij Mankad, Stefanie Thust, Luke Dixon, Clara Limback-Stanic, Felice D'Arco, Thomas S. Jacques, Ulrike Lobel
Summary: The fifth edition of the WHO Classification of Tumours of the Central Nervous System introduces fundamental changes to brain tumor classification, especially in pediatric populations, by incorporating new tumor families and types. It emphasizes organizing tumors by molecular type to better reflect biology and facilitate treatment planning.
Article
Cell Biology
Daniel Williamson, Edward C. Schwalbe, Kimberly A. Aldinger, Debbie Hicks, Janet C. Lindsey, Stephen Crosier, Stacey Richardson, Jack Goddard, Rebecca M. Hill, Jemma Castle, Yura Grabovska, James Hacking, Barry Pizer, Stephen B. Wharton, Thomas S. Jacques, Abhijit Joshi, Simon Bailey, Steven C. Clifford
Summary: This study reveals a transcriptional continuum of medulloblastoma, in which group 3 and group 4 medulloblastomas are intermediate states with specific molecular features. This continuum is closely related to the development of fetal cerebellar cell types.
Article
Clinical Neurology
Michaela-Kristina Keck, Martin Sill, Andrea Wittmann, Piyush Joshi, Damian Stichel, Pengbo Beck, Konstantin Okonechnikow, Philipp Sievers, Annika K. Wefers, Federico Roncaroli, Shivaram Avula, Martin G. McCabe, James T. Hayden, Pieter Wesseling, Ingrid Ora, Monica Nister, Mariette E. G. Kranendonk, Bastiaan B. J. Tops, Michal Zapotocky, Josef Zamecnik, Alexandre Vasiljevic, Tanguy Fenouil, David Meyronet, Katja von Hoff, Ulrich Schuller, Hugues Loiseau, Dominique Figarella-Branger, Christof M. Kramm, Dominik Sturm, David Scheie, Tuomas Rauramaa, Jouni Pesola, Johannes Gojo, Christine Haberler, Sebastian Brandner, Tom Jacques, Alexandra Sexton Oates, Richard Saffery, Ewa Koscielniak, Suzanne J. Baker, Stephen Yip, Matija Snuderl, Nasir Ud Din, David Samuel, Kathrin Schramm, Mirjam Blattner-Johnson, Florian Selt, Jonas Ecker, Till Milde, Andreas von Deimling, Andrey Korshunov, Arie Perry, Stefan M. Pfister, Felix Sahm, David A. Solomon, David T. W. Jones
Summary: Pediatric central nervous system (CNS) tumors are the leading cause of cancer-related death in children aged 0-14 years. A newly identified CNS tumor type characterized by PLAGL1/2 amplification and a lack of recurrent genetic alterations has been described. These tumors are composed of primitive embryonal-like cells and are associated with intermediate survival, but the cell of origin and optimal treatment strategies are yet to be determined.
ACTA NEUROPATHOLOGICA
(2023)
Correction
Clinical Neurology
Michaela-Kristina Keck, Martin Sill, Andrea Wittmann, Piyush Joshi, Damian Stichel, Pengbo Beck, Konstantin Okonechnikow, Philipp Sievers, Annika K. Wefers, Federico Roncaroli, Shivaram Avula, Martin G. McCabe, James T. Hayden, Pieter Wesseling, Ingrid Ora, Monica Nister, Mariette E. G. Kranendonk, Bastiaan B. J. Tops, Michal Zapotocky, Josef Zamecnik, Alexandre Vasiljevic, Tanguy Fenouil, David Meyronet, Katja von Hoff, Ulrich Schueller, Hugues Loiseau, Dominique Figarella-Branger, Christof M. Kramm, Dominik Sturm, David Scheie, Tuomas Rauramaa, Jouni Pesola, Johannes Gojo, Christine Haberler, Sebastian Brandner, Tom Jacques, Alexandra Sexton Oates, Richard Saffery, Ewa Koscielniak, Suzanne J. Baker, Stephen Yip, Matija Snuderl, Nasir Ud Din, David Samuel, Kathrin Schramm, Mirjam Blattner-Johnson, Florian Selt, Jonas Ecker, Till Milde, Andreas von Deimling, Andrey Korshunov, Arie Perry, Stefan M. Pfister, Felix Sahm, David A. Solomon, David T. W. Jones
ACTA NEUROPATHOLOGICA
(2023)
Review
Clinical Neurology
Keng Siang Lee, John J. Y. Zhang, Sanjay Bhate, Vijeya Ganesan, Dominic Thompson, Greg James, Adikarige Haritha Dulanka Silva
Summary: This meta-analysis compared the techniques of indirect bypass, direct bypass, and combined bypass in pediatric patients with moyamoya disease and syndrome, and found that these surgical revascularization options are effective and safe.
CHILDS NERVOUS SYSTEM
(2023)
Review
Clinical Neurology
Duranka Perera, Claudia L. Craven, Dominic Thompson
Summary: This systematic review aims to evaluate the evidence base of lumbosacral lipomas and provide guidance for management strategies. The results show that lumbosacral lipomas have significant heterogeneity in clinical presentation and outcome, and there is currently insufficient evidence to support clear recommendations for the management of pediatric lumbosacral lipomas.
CHILDS NERVOUS SYSTEM
(2023)
Correction
Clinical Neurology
M. K. Mateos, N. Birdi, A. P. Basu, M. Wright, A. Joshi, S. Annavarapu, T. S. Jacques, D. Mitra, S. Bailey
Meeting Abstract
Oncology
Lewis Woodward, Tania A. Jones, Ankit Patel, Arran D. Dokal, Thomas J. Stone, Vinothini Rajeeve, Pedro R. Cutillas, David T. W. Jones, Darren Hargrave, Thomas S. Jacques, Denise Sheer
Meeting Abstract
Oncology
Rebecca Chapman, David R. Ghasemi, Pierre LeBlond, Hendrik Witt, Jacques Grill, John-Paul Kilday, Piergiorgio Modena, Pascale Varlet, Arnault Tauziede-Espariat, Christine Haberler, Francesca Buttarelli, Felice Giangaspero, Simon M. L. Paine, Thomas S. Jacques, Ian Scott, Felipe Andreiuolo, Torsten Pietsch, Maura Massimino, Richard Grundy, Kristian W. Pajtler, Timothy A. Ritzmann
Meeting Abstract
Oncology
Katherine Green, Paraskevi Panagopoulou, Felice D'Arco, Patricia O'Hare, Richard Bowman, Bronwen Walters, Christine Dahl, Mette Jorgensen, Pritesh Patel, Olga Slater, Rehana Ahmed, Simon Bailey, Fernando Carceller, Rhiannon Collins, Elizabeth Corley, Martin English, James Hayden, Lisa Howells, Ahmed Kamal, John Paul Kilday, Stephen Lowis, Blanche Lumb, Thomas Micic, Dip Mitra, Erika Pace, Susan Picton, Barry Pizer, Ayad Shafiq, Lena Uzunova, Shaun Wilson, Harriet Wayman, Darren Hargrave, Enrico Opocher