Article
Virology
Tirth Uprety, Chithra C. Sreenivasan, Ben M. Hause, Ganwu Li, Solomon O. Odemuyiwa, Stephan Locke, Jocelynn Morgan, Li Zeng, William F. Gilsenan, Nathan Slovis, Laurie Metcalfe, Craig N. Carter, Peter Timoney, David Horohov, Dan Wang, Erdal Erol, Emma Adam, Feng Li
Summary: The increase in severe watery to hemorrhagic diarrhea cases in neonatal foals in Central Kentucky in 2021 was linked to a novel equine rotavirus group B (ERVB) originating from ruminants. Although diagnostic investigations failed to detect ERVA, metagenomic sequencing revealed the presence of ERVB in affected foals, with similarities to ruminant-derived group B rotaviruses. This emergence of a ruminant-like group B rotavirus in foals highlights the importance of further investigation due to its impact on neonatal foals and the equine industry.
Article
Endocrinology & Metabolism
Aaron Chapla, Jabasteen Johnson, Sophy Korula, Nisha Mohan, Anish Ahmed, Deny Varghese, Parthiban Rangasamy, Lavanya Ravichandran, Felix Jebasingh, Krishna Kumar Agrawal, Noel Somasundaram, Asha Hesarghatta Shyamasunder, Sarah Mathai, Anna Simon, Sujeet Jha, Subhankar Chowdry, Radha Venkatesan, Palany Raghupathy, Nihal Thomas
Summary: This study identified 11 patients with WFS1 gene variants through next-generation sequencing. It found that 9 of these patients had pathogenic/likely pathogenic variants in the WFS1 gene, and 3 of them carried a novel variant. Haplotype analysis suggested a founder effect in 3 families from Southern India.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Geriatrics & Gerontology
SeyedAhmad SeyedAlinaghi, Morteza Ghayomzadeh, Pegah Mirzapour, Seyed Farzad Maroufi, Zahra Pashaei, Zoha Ali, Marcarious M. Tantuoyir, Narjes Aghaie, Farzin Vahedi, Roghayeh Salmani, Mehrzad MohsseniPour, Kowsar Qaderi, Ramin Shahidi, Akram Peyman, Sanaz Varshochi, Arian Afzalian, Seyede Parmis Maroufi, Esmaeil Mehraeen, Omid Dadras, Daniel Hackett
Summary: People living with HIV are at a higher risk of sarcopenia, which can significantly impact their quality of life and ultimately lead to death. This systematic review explored the prevalence of sarcopenia in this population and identified several factors associated with its development. The findings indicate that age, gender, time since HIV diagnosis, vertebral fractures, drug use, and gamma-glutamyl transferase level are promoting factors, while higher education, employment, physical exercise, calf circumference, and gait speed are protective factors against sarcopenia.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Article
Immunology
Niusha Sharifinejad, Gholamreza Azizi, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Mahnaz Seifi Alan, Marzieh Tavakol, Homa Sadri, Mohammad Nabavi, Sareh Sadat Ebrahimi, Afshin Shirkani, Ahmad Vosughi Motlagh, Molood Safarirad, Fatemeh Aghamahdi, Farzad Nazari, Samaneh Delavari, Mahnaz Jamee, Farimah Fayyaz, Parham Samimisedeh, Rahman Matani, Marzie Esmaeili, Reza Yazdani, Nima Rezaei, Hassan Abolhassani
Summary: About 18% of patients with syndromic CIDs develop autoimmunity, mainly in the form of hematological immune diseases. Autoimmunity could be an early-onset involvement with a potential diagnostic impact on suspicious cases of syndromic CIDs.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Deli Song, Jingshi Wang, Jia Zhang, Junxia Hu, Chaofan Wu, Zhao Wang
Summary: In this article, five cases of HAVCR2 mutation-associated HLH were reported. The study found an elevated level of IL-1RA in the serum of these patients. The potential mechanisms underlying HLH associated with HAVCR2 mutation were also investigated.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Otorhinolaryngology
Zhijie Niu, Lingyun Mei, Fen Tang, Jiada Li, Xueping Wang, Jie Sun, Chufeng He, Hongsheng Cheng, Yalan Liu, Xinzhang Cai, Jian Song, Yong Feng, Lu Jiang
Summary: This study investigated the genetic cause of hearing loss in a Chinese WS1 family, identifying a novel missense mutation in the PAX3 gene and revealing the functional consequences of the mutation. The findings suggest haploinsufficiency may be the underlying mechanism for the WS1 phenotype.
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
(2021)
Article
Hematology
V. Koneti Rao, Sharon Webster, Anna Sediva, Alessandro Plebani, Catharina Schuetz, Anna Shcherbina, Niall Conlon, Tanya Coulter, Virgil A. Dalm, Antonino Trizzino, Yulia Zharankova, Elaine Kulm, Julia Koerholz, Vassilios Lougaris, Yulia Rodina, Kath Radford, Jason Bradt, Klaus Kucher, Anurag Relan, Steven M. Holland, Michael J. Lenardo, Gulbu Uzel
Summary: Activated phosphoinositide 3-kinase delta (PI3K delta) syndrome (APDS) is a genetic disorder that results in immune dysregulation and deficiency. In a clinical trial, leniolisib, a selective PI3K delta inhibitor, was found to improve lymphadenopathy and increase the percentage of naive B cells in patients with APDS, demonstrating a positive impact on their immune system. Overall, leniolisib was well tolerated with minimal adverse events.
Article
Immunology
Nadine Tarantino, Elena Litvinova, Assia Samri, Cathia Soulie, Veronique Morin, Alice Rousseau, Karim Dorgham, Christophe Parizot, Olivia Bonduelle, Alexandra Beurton, Makoto Miyara, Pascale Ghillani, Julien Mayaux, Raphael Lhote, Jean-Marc Lacorte, Anne-Genevieve Marcelin, Zahir Amoura, Charles-Edouard Luyt, Guy Gorochov, Amelie Guihot, Vincent Vieillard
Summary: A study found that dysregulated function of natural killer (NK) cells is associated with the severity of COVID-19. NK cells in severe patients displayed an activated memory-like phenotype and produced excessive TNF-alpha, which may contribute to the worsening of the disease and even death.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2023)
Article
Physiology
Lina Liang, Huihui Liu, Deborah Bartholdi, Arie van Haeringen, Alberto Fernandez-Jaen, Els E. A. Peeters, Hongbo Xiong, Xuemei Bai, Chengqi Xu, Tie Ke, Qing K. Wang
Summary: This study identified two new loss-of-function mutations of the KCNMA1 gene associated with Liang-Wang syndrome and expanded the spectrum of clinical features associated with gain-of-function KCNMA1 variants. The study also highlighted the overlapping features shared by gain-of-function and loss-of-function mutations.
Article
Oncology
Shaelene Standing, Son Tran, Luis Murguia-Favela, Olga Kovalchuk, Pinaki Bose, Aru Narendran
Summary: Cancer, especially in children, is a major cause of disease-related mortality, and there is a correlation between primary immunodeficiencies (PID) genes and the development of pediatric cancers. This study used a bioinformatics framework to analyze the expression differences, gene ontology enrichment, protein-protein interaction, and prognostic impacts of PID-related genes in pediatric cancers, revealing the connection between multiple PID-related genes and the development of PID and cancer.
Article
Immunology
Elizabeth M. Holland, Corina Gonzalez, Elliot Levy, Vladimir A. Valera, Heather Chalfin, Jacquelyn Klicka-Skeels, Bonnie Yates, David E. Kleiner, Colleen Hadigan, Hema Dave, Haneen Shalabi, Dennis D. Hickstein, Helen C. Su, Michael Grimley, Alexandra F. Freeman, Nirali N. Shah
Summary: This case report describes a 16-year-old male with DOCK8 deficiency who underwent haploidentical HSCT and developed severe BKV-associated hemorrhagic cystitis, renal hemorrhage, and VST-associated cytokine release syndrome. The case highlights opportunities for improvement in managing severe BKV-HC post-transplant and underscores rare and potentially life-threatening complications of VST therapy.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Genetics & Heredity
Zhouxian Bai, Gaopan Li, Xiangdong Kong
Summary: This article reports a case of a Chinese girl from a core family who has specific developmental delay and immunodeficiency. She carries a novel heterozygous missense mutation of c.2499dupG in exon 14 of the EP300 gene. The study findings suggest that the clinical phenotype caused by this mutation is milder compared to RSTS2 patients, but establishing an accurate genotype-phenotype correlation is difficult.
BMC MEDICAL GENOMICS
(2023)
Article
Endocrinology & Metabolism
Guoming Chu, Pingping Li, Qian Zhao, Rong He, Yanyan Zhao
Summary: In this study, three novel ANOS1 mutations and two novel FGFR1 variations were identified in Chinese families with Kallmann syndrome. The pathogenicity of ANOS1 mutations was confirmed through in silico prediction and functional experiments. FRFR1 c.1835delA mutation and del(8)(p12p11.22)chr8:g.36140000_38460000del were assessed as pathogenic variations. Hence, our study expands the mutation spectrum associated with Kallmann syndrome and provides diagnostic evidence for future patients carrying the same mutation.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Hui Hui Wong, Sze Hwee Seet, Michael Maier, Ayse Gurel, Ricardo Moreno Traspas, Cheryl Lee, Shan Zhang, Beril Talim, Abigail Y. T. Loh, Crystal Y. Chia, Tze Shin Teoh, Danielle Sng, Jarred Rensvold, Sule Unal, Evgenia Shishkova, Ece Cepni, Fatima M. Nathan, Fernanda L. Sirota, Chao Liang, Nese Yarali, Pelin O. Simsek-Kiper, Tadahiro Mitani, Serdar Ceylaner, Ozlem Arman-Bilir, Hamdi Mbarek, Fatma Gumruk, Stephanie Efthymiou, Deniz Ugurlu Cimen, Danai Georgiadou, Kortessa Sotiropoulou, Henry Houlden, Franziska Paul, Davut Pehlivan, Candice Laine, Guoliang Chai, Nur Ain Ali, Siew Chin Choo, Soh Sok Keng, Bertrand Boisson, Elanur Yilmaz, Shifeng Xue, Joshua J. Coon, Thanh Thao Nguyen Ly, Naser Gilani, Dana Hasbini, Hulya Kayserili, Maha S. Zaki, Robert J. Isfort, Natalia Ordonez, Kornelia Tripolszki, Peter Bauer, Nima Rezaei, Simin Seyedpour, Ghamar Taj Khotaei, Charles C. Bascom, Reza Maroofian, Myriam Chaabouni, Afaf Alsubhi, Wafaa Eyaid, Sedat Isikay, Joseph G. Gleeson, James R. Lupski, Jean-Laurent Casanova, David J. Pagliarini, Nurten A. Akarsu, Sebastian Maurer-Stroh, Arda Cetinkaya, Aida Bertoli-Avella, Ajay S. Mathuru, Lena Ho, Frederic A. Bard, Bruno Reversade
Summary: This study identifies an autosomal recessive disorder caused by C2orf69 deficiency, which disrupts the immune and central nervous systems' development and homeostasis.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Hematology
Julia Guillou, Alice de Pellegars, Florence Porcheret, Veronique Fremeaux-Bacchi, Emma Allain-Launay, Camille Debord, Manon Denis, Yann Pereon, Christine Barnerias, Isabelle Desguerre, Gwenaelle Roussey, Sandra Mercier
Summary: AAV gene therapies, such as onasemnogene abeparvovec, show great promise in treating spinal muscle atrophy (SMA). However, fatal systemic thrombotic microangiopathy (TMA) has been reported following the use of onasemnogene abeparvovec, raising concerns about the risk-benefit ratio of this therapy. Early recognition and targeted immunotherapy are crucial to ensure patient safety.
Article
Immunology
Irene N. Kasumba, Caisey Pulford, Blanca M. Perez-Sepulveda, Sunil Sen, Nurulla Sayed, Jasnehta Permala-Booth, Sofie Livio, Darren Heavens, Ross Low, Neil Hall, Anna Roose, Helen Powell, Tamer Farag, Sandra Panchalingham, Lynette Berkeley, Dilruba Nasrin, William C. Blackwelder, Yukun Wu, Boubou Tamboura, Doh Sanogo, Uma Onwuchekwa, Samba O. Sow, John B. Ochieng, Richard Omore, Joseph O. Oundo, Robert F. Breiman, Eric D. Mintz, Ciara E. O'Reilly, Martin Antonio, Debasish Saha, M. Jahangir Hossain, Inacio Mandomando, Quique Bassat, Pedro L. Alonso, T. Ramamurthy, Dipika Sur, Shahida Qureshi, Anita K. M. Zaidi, Anowar Hossain, Abu S. G. Faruque, James P. Nataro, Karen L. Kotloff, Myron M. Levine, Jay C. D. Hinton, Sharon M. Tennant
Summary: The Global Enteric Multicenter Study revealed that nontyphoidal Salmonella is prevalent but at low levels in children under 5 years old in Africa and Asia. The multidrug-resistant Salmonella Typhimurium ST313 can be asymptomatically carried by humans in sub-Saharan Africa. There are differences in antimicrobial susceptibility between Asian and African isolates of Salmonella.
CLINICAL INFECTIOUS DISEASES
(2021)
Article
Microbiology
Caisey V. Pulford, Blanca M. Perez-Sepulveda, Rocio Canals, Jessica A. Bevington, Rebecca J. Bengtsson, Nicolas Wenner, Ella V. Rodwell, Benjamin Kumwenda, Xiaojun Zhu, Rebecca J. Bennett, George E. Stenhouse, P. Malaka De Silva, Hermione J. Webster, Jose A. Bengoechea, Amy Dumigan, Alicia Tran-Dien, Reenesh Prakash, Happy C. Banda, Lovemore Alufandika, Mike P. Mautanga, Arthur Bowers-Barnard, Alexandra Y. Beliavskaia, Alexander V. Predeus, Will P. M. Rowe, Alistair C. Darby, Neil Hall, Francois-Xavier Weill, Melita A. Gordon, Nicholas A. Feasey, Kate S. Baker, Jay C. D. Hinton
Summary: This study identified a new lineage of nontyphoidal Salmonella, ST313 L3, which emerged in Malawi in 2016 and is closely related to variants causing gastrointestinal disease in the United Kingdom and Brazil. Genomic analysis revealed degradation events in important virulence genes in ST313 L3, a phenomenon not seen in other ST313 lineages.
NATURE MICROBIOLOGY
(2021)
Article
Microbiology
Claudia A. Ribeiro, Luke A. Rahman, Louis G. Holmes, Ayrianna M. Woody, Calum M. Webster, Taylor I. Monaghan, Gary K. Robinson, Fritz A. Muhlschlegel, Ian B. Goodhead, Mark Shepherd
Summary: The study demonstrates that exposure to nitric oxide significantly increases resistance to gentamicin in pathogenic E. coli, potentially promoting the acquisition of antibiotic-resistance mechanisms in bacterial pathogens. Although data did not support a correlation between antibiotic resistance genes and nitric oxide tolerance, the research has implications for how antibiotic susceptibility is measured in the future (+/-NO).
ARCHIVES OF MICROBIOLOGY
(2021)
Article
Food Science & Technology
Amanda M. Naaum, Marine Cusa, Maleeka Singh, Zoe Bleicher, Christopher Elliott, Ian B. Goodhead, Robert H. Hanner, Sarah J. Helyar, Stefano Mariani, John E. Rice, Lawrence J. Wangh, J. Aquiles Sanchez
Summary: Seafood accounts for 20% of animal protein consumption globally and is a crucial dietary and income resource for the world population, however, the industry faces challenges such as unsustainable fishing and fraud. FASTFISH-ID is an innovative commercial platform that allows rapid and automated species authentication, offering a promising solution to combat seafood fraud.
FOOD RESEARCH INTERNATIONAL
(2021)
Editorial Material
Multidisciplinary Sciences
Harris A. Lewin, Stephen Richards, Erez Lieberman Aiden, Miguel L. Allende, John M. Archibald, Miklos Balint, Katharine B. Barker, Bridget Baumgartner, Katherine Belov, Giorgio Bertorelle, Mark L. Blaxter, Jing Cai, Nicolette D. Caperello, Keith Carlson, Juan Carlos Castilla-Rubio, Shu-Miaw Chaw, Lei Chen, Anna K. Childers, Jonathan A. Coddington, Dalia A. Conde, Montserrat Corominas, Keith A. Crandall, Andrew J. Crawford, Federica DiPalma, Richard Durbin, ThankGod E. Ebenezer, Scott V. Edwards, Olivier Fedrigo, Paul Flicek, Giulio Formenti, Richard A. Gibbs, M. Thomas P. Gilbert, Melissa M. Goldstein, Jennifer Marshall Graves, Henry T. Greely, Igor V. Grigoriev, Kevin J. Hackett, Neil Hall, David Haussler, Kristofer M. Helgen, Carolyn J. Hogg, Sachiko Isobe, Kjetill Sigurd Jakobsen, Axel Janke, Erich D. Jarvis, Warren E. Johnson, Steven J. M. Jones, Elinor K. Karlsson, Paul J. Kersey, Jin-Hyoung Kim, W. John Kress, Shigehiro Kuraku, Mara K. N. Lawniczak, James H. Leebens-Mack, Xueyan Li, Kerstin Lindblad-Toh, Xin Liu, Jose V. Lopez, Tomas Marques-Bonet, Sophie Mazard, Jonna A. K. Mazet, Camila J. Mazzoni, Eugene W. Myers, Rachel J. O'Neill, Sadye Paez, Hyun Park, Gene E. Robinson, Cristina Roquet, Oliver A. Ryder, Jamal S. M. Sabir, H. Bradley Shaffer, Timothy M. Shank, Jacob S. Sherkow, Pamela S. Soltis, Boping Tang, Leho Tedersoo, Marcela Uliano-Silva, Kun Wang, Xiaofeng Wei, Regina Wetzer, Julia L. Wilson, Xun Xu, Huanming Yang, Anne D. Yoder, Guojie Zhang
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Multidisciplinary Sciences
Mara K. N. Lawniczak, Richard Durbin, Paul Flicek, Kerstin Lindblad-Toh, Xiaofeng Wei, John M. Archibald, William J. Baker, Katherine Belov, Mark L. Blaxter, Tomas Marques Bonet, Anna K. Childers, Jonathan A. Coddington, Keith A. Crandall, Andrew J. Crawford, Robert P. Davey, Federica Di Palma, Qi Fang, Wilfried Haerty, Neil Hall, Katharina J. Hoff, Kerstin Howe, Erich D. Jarvis, Warren E. Johnson, Rebecca N. Johnson, Paul J. Kersey, Xin Liu, Jose Victor Lopez, Eugene W. Myers, Olga Vinnere Pettersson, Adam M. Phillippy, Monica F. Poelchau, Kim D. Pruitt, Arang Rhie, Juan Carlos Castilla-Rubio, Sunil Kumar Sahu, Nicholas A. Salmon, Pamela S. Soltis, David Swarbreck, Francoise Thibaud-Nissen, Sibo Wang, Jill L. Wegrzyn, Guojie Zhang, He Zhang, Harris A. Lewin, Stephen Richards
Summary: The Earth BioGenome Project (EBP) is a global international initiative that requires agreement and coordination on standards. To ensure rapid progress towards its goals, EBP has established five technical standards committees and made the current versions of the standards documents available on its website.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Multidisciplinary Sciences
Mark Blaxter, John M. Archibald, Anna K. Childers, Jonathan A. Coddington, Keith A. Crandall, Federica Di Palma, Richard Durbin, Scott V. Edwards, Jennifer A. M. Graves, Kevin J. Hackett, Neil Hall, Erich D. Jarvis, Rebecca N. Johnson, Elinor K. Karlsson, W. John Kress, Shigehiro Kuraku, Mara K. N. Lawniczak, Kerstin Lindblad-Toh, Jose V. Lopez, Nancy A. Moran, Gene E. Robinson, Oliver A. Ryder, Beth Shapiro, Pamela S. Soltis, Tandy Warnow, Guojie Zhang, Harris A. Lewin
Summary: Life on Earth has evolved from simplicity to complexity, with bacteria and archaea excelling in metabolic diversification and eukaryotes displaying morphological innovation. The Earth BioGenome Project proposes sequencing the genomes of all known eukaryotic species to create a digital library of life, which will help address evolutionary and ecological questions and provide insights into speciation, adaptation, and organismal dependencies within ecosystems.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Microbiology
Rebecca J. Bengtsson, Adam J. Simpkin, Caisey V. Pulford, Ross Low, David A. Rasko, Daniel J. Rigden, Neil Hall, Eileen M. Barry, Sharon M. Tennant, Kate S. Baker
Summary: This study conducted genomic analyses of Shigella isolates from seven low- and middle-income countries, revealing the significant role of Shigella genomic diversity in vaccination design and resistance evolution against current antibiotic treatments. The findings underscore the importance of integrating genomic diversity into vaccine and treatment plans for Shigella and provide a framework for guiding vaccine development and control strategies for other relevant pathogens.
NATURE MICROBIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Mareike C. Janiak, Felipe E. Silva, Robin M. D. Beck, Dorien de Vries, Lukas F. K. Kuderna, Nicole S. Torosin, Amanda D. Melin, Tomas Marques-Bonet, Ian B. Goodhead, Mariluce Messias, Maria N. F. da Silva, Iracilda Sampaio, Izeni P. Farias, Rogerio Rossi, Fabiano R. de Melo, Joao Valsecchi, Tomas Hrbek, Jean P. Boubli
Summary: Mitochondrial DNA is an important tool in molecular ecology, particularly for species that are difficult to sample. In this study, we assembled 205 new mitochondrial genomes for platyrrhine primates and used them to evaluate the riverine barrier hypothesis. Our results suggest that the effects of riverine barriers vary among different clades and that other evolutionary mechanisms may have played a role in the diversification of platyrrhines.
Editorial Material
Veterinary Sciences
Derek C. C. Knottenbelt
EQUINE VETERINARY EDUCATION
(2023)