Article
Obstetrics & Gynecology
S. L. Son, A. A. Allshouse, J. M. Page, M. P. Debbink, H. Pinar, U. Reddy, K. J. Gibbins, B. J. Stoll, C. B. Parker, D. J. Dudley, M. W. Varner, R. M. Silver
Summary: The study found that 23.4% of stillbirths had one or more major anomalies, compared to 4.3% of live births. The presence of anomalies increased the odds of stillbirth, with a higher association observed with an increasing number of anomalies. Regardless of the affected organ system, the presence of an anomaly was found to increase the odds of stillbirth.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2021)
Article
Public, Environmental & Occupational Health
Hans K. Hvide, Julian Johnsen, Kjell G. Salvanes
Summary: The study uses Norwegian birth registry data and finds a significant impact of parental age on the risk of birth disorders among siblings. Comparisons with existing literature show weaker effects when looking at parental age variations across families, suggesting an underestimation of the negative effects of parental aging on offspring outcomes.
EUROPEAN JOURNAL OF EPIDEMIOLOGY
(2021)
Review
Microbiology
Thomas Henzi, Nils Lannes, Luis Filgueira
Summary: Human septins are a family of 13 genes encoding conserved GTP-binding proteins that play important roles in cellular functions and pathologies. They participate in various cellular processes, interact with cytoskeletal elements, and are implicated in viral infections. The specific functions of septins in virus infection and replication are still limited in knowledge, with ongoing research on different viruses.
Editorial Material
Biochemistry & Molecular Biology
Alexandra Toporek, Noah Lechtzin
Summary: The study reports the successful treatment of a Mycobacterium abscessus lung infection with bacteriophage in an immune competent individual. This provides important information about the efficacy of phage therapy and treatment response timeline.
Article
Chemistry, Multidisciplinary
Rebecca E. Moore, Sabrina K. Spicer, Jacky Lu, Schuyler A. Chambers, Kristen N. Noble, Jonathan Lochner, Rebecca C. Christofferson, Karla A. Vasco, Shannon D. Manning, Steven D. Townsend, Jennifer A. Gaddy
Summary: Preterm birth affects nearly 10% of all pregnancies inthe United States, with 40% of those due, in part, to infections. Streptococcus agalactiae (GBS) is a common perinatal pathogen responsible for these infections. Human milk oligosaccharides (HMOs) have been shown to possess antiadhesive and antimicrobial properties. In this study, supplementation of HMOs reduced adverse pregnancy outcomes, GBS adherence and colonization, as well as proinflammatory immune responses to GBS infection. These results suggest the potential of HMOs as promising therapeutic interventions in perinatal health.
ACS CENTRAL SCIENCE
(2023)
Article
Microbiology
Mary K. Lynn, M. Stanley Rodriguez Aquino, Stella C. W. Self, Mufaro Kanyangarara, Berry A. Campbell, Melissa S. Nolan
Summary: TORCH pathogens are a group of infectious agents that can cause severe negative consequences in neonates, including fetal death and lifelong morbidity. In Central America's Northern Triangle, neonatal disorders and congenital birth defects are the leading causes of neonatal mortality, but there is limited knowledge about TORCH congenital syndrome in this region.
Article
Cardiac & Cardiovascular Systems
Tong Yi, Xiaoyan Hao, Hairui Sun, Ye Zhang, Jiancheng Han, Xiaoyan Gu, Lin Sun, Xiaowei Liu, Ying Zhao, Yong Guo, Xiaoxue Zhou, Yihua He
Summary: CNV-seq and ES can provide valuable information for genetic evaluation of foetal CHDs. Nearly 1/3 of the foetal CHD cases were found to have genetic abnormalities. AVSD, LVOTO, and CTD were the most common CHD categories, and mutations in KMT2D, CHD7, and NOTCH1 were frequently observed.
Review
Biochemistry & Molecular Biology
Kavita Narang, Elizabeth H. Cheek, Elizabeth Ann L. Enninga, Regan N. Theiler
Summary: Congenital and perinatal infections pose significant risks to pregnant women, potentially leading to fetal infection and long-term developmental consequences. Some pathogens can directly infect the fetus by crossing the placenta, while others induce maternal or placental inflammation that indirectly harms the fetus. The placenta is a temporary but critical organ that plays vital roles in facilitating fetal nutrition, oxygenation, and protection against in utero infection.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Endocrinology & Metabolism
Rachel Fourneaux, Rachel Reynaud, Gregory Mougel, Sarah Castets, Patricia Bretones, Benjamin Dauriat, Thomas Edouard, Gerald Raverot, Anne Barlier, Thierry Brue, Frederic Castinetti, Alexandru Saveanu
Summary: This study aimed to investigate the genetic causes of TSH deficiency. Through NGS analysis, variants associated with TSH deficiency were identified, and IGSF1 variants were found to be the most frequent cause. However, most patients still lack a molecular diagnosis.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Article
Obstetrics & Gynecology
Maartje C. Snoep, Bo B. Bet, Fleur Zwanenburg, Ingmar Knobbe, Ingeborg H. Linskens, Eva Pajkrt, Lieke Rozendaal, Lotte E. Van der Meeren, Sally-Ann Clur, Monique C. Haak
Summary: This study analyzed the factors related to fetal demise in cases of fetal congenital heart disease. The findings showed that, in addition to cardiac failure and other (genetic) diagnoses, placental factors also play an important role in fetal demise, especially in cases of isolated heart defects. These results support the importance of regular ultrasound assessment of fetal growth and placental function in fetal congenital heart disease.
AMERICAN JOURNAL OF OBSTETRICS & GYNECOLOGY MFM
(2023)
Article
Pediatrics
Neamin Tesfay, Frehiwot Legesse, Mandefro Kebede, Fitsum Woldeyohannes
Summary: This study identifies potential factors related to stillbirth in Ethiopia based on nationally reviewed perinatal deaths. Individual factors such as place of delivery, cause of death, maternal health condition, and maternal education, as well as facility-level factors such as type of health facility and delay in receiving adequate care, are associated with the risk of stillbirth.
FRONTIERS IN PEDIATRICS
(2022)
Article
Multidisciplinary Sciences
Beatrice Z. Sim, Luke Conway, Laura K. Smith, Lee Fairhead, Yi Shan Der, Lara Payne, Enzo Binotto, Simon Smith, Josh Hanson
Summary: Cryptococcal infections in tropical Australia are a significant cause of illness and death. This retrospective study aimed to analyze the characteristics, temporospatial epidemiology, and clinical course of 49 cryptococcal infections in Far North Queensland between January 1, 1999, and December 31, 2019. Cryptococcus gattii was the predominant strain, often found in patients living in rural areas, Indigenous Australians, and during the dry season. Compared to Cryptococcus neoformans infections, patients with C. gattii were less likely to be immunocompromised, but there was no significant difference in the need for neurosurgery. Overall, patient outcomes were generally good, likely due to standardized treatment guidelines, low comorbidity rates in C. gattii cases, and access to appropriate healthcare resources.
Article
Endocrinology & Metabolism
Caroline Diguisto, Mark W. J. Strachan, David Churchill, Goher Ayman, Marian Knight
Summary: The incidence rate of diabetic ketoacidosis (DKA) in pregnancy was estimated to be 6.3 per 100,000 maternities, mainly occurring in women with type 1 diabetes in the third trimester. Factors such as infection, vomiting, steroid therapy, and medication errors were major precipitants, with high perinatal mortality rates linked to socio-economic deprivation and complications of diabetes.
Article
Health Care Sciences & Services
Ka Wang Cheung, Mimi Tin Yan Seto, Weilan Wang, Chi Tao Ng, William Wing Kee To, Ernest Hung Yu Ng
Summary: The maternal and perinatal mortality rate in Hong Kong has been steadily decreasing and is maintained at the lowest level globally. The main causes of death are thromboembolism and obstetric hemorrhage for maternal death, and congenital problems and prematurity for neonatal death.
LANCET REGIONAL HEALTH-WESTERN PACIFIC
(2022)
Editorial Material
Immunology
Brad Gilbertson, Kanta Subbarao
Summary: There is a widespread and unprecedented spread of highly pathogenic avian influenza A H5N1 viruses in bird species on five continents, with infections also reported in mammals, most likely caused by consuming infected birds. The increase in H5N1 virus infections in different species could lead to the emergence of new viral variants that may adapt to mammals and potentially humans. It is crucial to monitor and assess the presence of mutations in mammalian-origin H5N1 clade 2.3.4.4b viruses that could increase their risk for human pandemics. Although there have been a limited number of human cases so far, the infection of mammals provides opportunities for the virus to acquire mutations that enhance infection, replication, and spread in mammals, which were not observed in the past viruses.
JOURNAL OF EXPERIMENTAL MEDICINE
(2023)
Review
Virology
Krishneel Singh, Stuart T. Hamilton, Antonia W. Shand, Natalie J. Hannan, William D. Rawlinson
Summary: Cellular receptors in human cytomegalovirus (HCMV) transmission play a crucial role in congenital infection, with placental trophoblast cells expressing various receptors for HCMV entry. This review summarizes the different HCMV receptors expressed in placental cells and their role in viral entry and tropism.
REVIEWS IN MEDICAL VIROLOGY
(2021)
Review
Microbiology
Sonia R. Isaacs, Dylan B. Foskett, Anna J. Maxwell, Emily J. Ward, Clare L. Faulkner, Jessica Y. X. Luo, William D. Rawlinson, Maria E. Craig, Ki Wook Kim
Summary: This article provides an overview of the role of viruses in the development of type 1 diabetes and discusses concerns over bias towards enteroviruses in research. It also highlights current unbiased efforts in characterizing the virome contributing to early development of islet autoimmunity and type 1 diabetes. Additionally, it reviews the candidates of vaccines and antiviral drugs currently being evaluated for the prevention and treatment of type 1 diabetes.
Article
Biochemistry & Molecular Biology
Friedrich Hahn, Stuart T. Hamilton, Christina Wangen, Markus Wild, Jintawee Kicuntod, Nadine Brueckner, Jasmine E. L. Follett, Lars Herrmann, Ahmed Kheimar, Benedikt B. Kaufer, William D. Rawlinson, Svetlana B. Tsogoeva, Manfred Marschall
Summary: The study shows that a PROtac based on a cyclin-dependent kinase inhibitor has strong anti-HCMV activity and potential for broader antiviral applications.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Virology
Charles S. P. Foster, Sacha Stelzer-Braid, Ira W. Deveson, Rowena A. Bull, Malinna Yeang, Jane-Phan Au, Mariana Ruiz Silva, Sebastiaan J. van Hal, Rebecca J. Rockett, Vitali Sintchenko, Ki Wook Kim, William D. Rawlinson
Summary: Whole-genome sequencing of SARS-CoV-2-positive specimens from different laboratories in Sydney, Australia showed predominantly concordant matched genome sequences with a median pairwise identity of 99.997%. Differences were mainly driven by ambiguous site content. Ignoring these differences may lead to significant variations in the number of defined clusters in epidemiological inference based on single nucleotide variant distances.
Article
Chemistry, Analytical
Meysam Rezaei, Sajad Razavi Bazaz, Dorsa Morshedi Rad, Olga Shimoni, Dayong Jin, William Rawlinson, Majid Ebrahimi Warkiani
Summary: During the COVID-19 pandemic, it is essential to develop an easy-to-use, rapid, and portable system for detecting SARS-CoV-2. Our developed device has a high limit of detection and is suitable for use in crisis centers, mobile laboratories, remote locations, or airports.
Letter
Pathology
Charles S. P. Foster, Mathew Madden, Raymond Chan, David Agapiou, Rowena A. Baull, William D. Rawlinson, Sebastiaan J. Van Hal
Letter
Pathology
Malinna Yeang, Vidiya Ramachandran, Zin Naing, Chee Choy Kok, William D. Rawlinson
Article
Pathology
Katherine A. Lau, Kristy Horan, Anders Goncalves da Silva, Alexa Kaufer, Torsten Theis, Susan A. Ballard, William D. Rawlinson
Summary: Extensive studies into the molecular features of SARS-CoV-2 have enhanced global surveillance and investigation. Whole genome sequencing is crucial for identifying the source and transmission routes of the virus. Different levels of SARS-CoV-2 genomics capacity have been established in Australian public health laboratories, and participating laboratories are recommended to join an external proficiency testing program. This study describes the development of such a program, which assessed laboratory performance and provided valuable insights into the current state of SARS-CoV-2 genomics in public health across Australia.
Review
Virology
Lok Bahadur Shrestha, Charles Foster, William Rawlinson, Nicodemus Tedla, Rowena A. Bull
Summary: The Omicron variant of SARS-CoV-2 is a major public health concern due to its high infectivity and antibody evasion. It has rapidly become the dominant variant worldwide and has evolved through several variants. The evolution of Omicron is thought to be influenced by zoonotic spillage, infection in immunocompromised individuals, and undiagnosed spread in the community. Current research suggests that Omicron is more infectious than the original Wuhan-Hu-1 and Delta variants, but less severe in terms of its impact on lung tissue. Vaccines have shown reduced effectiveness against Omicron, but booster shots can improve efficacy. Broadly neutralizing monoclonal antibodies have limited effectiveness against Omicron, with some exceptions. New variants, such as BA.4 and BA.5, are emerging and are reported to be more transmissible and resistant to immunity generated by previous variants and monoclonal antibodies.
REVIEWS IN MEDICAL VIROLOGY
(2022)
Review
Virology
Xinye Wang, Sacha Stelzer-Braid, Matthew Scotch, William D. Rawlinson
Summary: NGS technologies have been successfully utilized in detecting a variety of respiratory viruses, showcasing advantages in novel virus discovery, typing, mutation identification, and infection cluster assessment. Despite technical and ethical challenges, NGS holds promise as a future tool to enhance understanding of respiratory viruses and provide more accurate diagnoses.
REVIEWS IN MEDICAL VIROLOGY
(2022)
Review
Virology
Roy Wu, Mohsin Mumtaz, Anna J. J. Maxwell, Sonia R. R. Isaacs, Jutta E. E. Laiho, William D. D. Rawlinson, Heikki Hyoty, Maria E. E. Craig, Ki Wook Kim
Summary: Among environmental factors associated with T1D, enterovirus infections have been identified as the main trigger for T1D development. However, the association between respiratory tract infections and T1D is not well understood. There is a lack of molecular-level data characterizing infectious agents, preventing the identification of specific agents driving the association between respiratory infections and T1D. The impact of SARS-CoV-2 infections on IA/T1D development remains unclear.
REVIEWS IN MEDICAL VIROLOGY
(2023)
Article
Virology
Charles S. P. Foster, Rowena A. Bull, Nicodemus Tedla, Fernando Santiago, David Agapiou, Anurag Adhikari, Gregory J. Walker, Lok Bahadur Shrestha, Sebastiaan J. Van Hal, Ki Wook Kim, William D. Rawlinson
Summary: Australia experienced widespread COVID-19 outbreaks caused by the SARS-CoV-2 Delta variant. A deletion mutation (Delta-ORF7a(Delta 17del)) in the ORF7a gene was found in most Australian outbreak cases. Previous studies suggested that ORF7a deletion mutations do not persist in the population, but this study found that Delta-ORF7a(Delta 17del) genomes persisted in the Australian outbreak.
Article
Pharmacology & Pharmacy
Ellen Bowden-Reid, Scott Ledger, Yuan Zhang, Francesca Di Giallonardo, Anupriya Aggarwal, Alberto Ospina Stella, Anouschka Akerman, Vanessa Milogiannakis, Gregory Walker, William Rawlinson, Stuart Turville, Anthony D. Kelleher, Chantelle Ahlenstiel
Summary: This article describes a broad-spectrum antiviral treatment for SARS-CoV-2 using siRNAs that target highly conserved regions of the virus genome. The siRNAs demonstrate potent antiviral effects against multiple variants and are more effective than current antiviral drugs.
ANTIVIRAL RESEARCH
(2023)
Article
Microbiology
Marilou H. Barrios, Suellen Nicholson, Rowena A. Bull, Marianne Martinello, William Rawlinson, Michael Mina, Jeffrey J. Post, Bernard Hudson, Nicole Gilroy, Andrew R. Lloyd, Pamela Konecny, Francesca Mordant, Mike Catton, Kanta Subbarao, Leon Caly, Julian Druce, Hans J. Netter
Summary: Serological diagnostic assays are crucial for understanding an individual's immunity to SARS-CoV-2, tracking the virus spread, and evaluating population immunity. Through a dot blot assay, researchers compared the antibody profiles of individuals with different severities of COVID-19 and found patient-specific differences in the anti-SARS-CoV-2 antibody responses. These findings highlight the variability in the antibody response and the importance of considering individual differences when assessing protective antibody status.
Article
Biochemistry & Molecular Biology
Martin Schuetz, Regina Mueller, Eileen Socher, Christina Wangen, Florian Full, Emanuel Wyler, Diana Wong, Myriam Scherer, Thomas Stamminger, Sunwen Chou, William D. Rawlinson, Stuart T. Hamilton, Heinrich Sticht, Manfred Marschall
Summary: The complex host interaction network of human cytomegalovirus (HCMV) involves the regulatory protein kinase pUL97 and human cyclins. The study found that cyclin H is a crucial determinant of pUL97 kinase activity and viral replication efficiency.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)