Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.

Premature ovarian insufficiency is a common form of female infertility affecting up to 4% of women and characterised by amenorrhea with elevated gonadotropin before the age of 40. Oocytes require controlled DNA breakage and repair for homologous recombination and the maintenance of oocyte integrity. Biallelic disruption of the DNA damage repair gene, Fanconi anemia complementation group A (FANCA), is a common cause of Fanconi anaemia, a syndrome characterised by bone marrow failure, cancer predisposition, physical anomalies and POI.

Characterizing pathways of seafood access in small island developing states.

Ensuring healthy and sustainable food systems in increasing social, economic, and ecological change is a key global priority to protect human and environmental health. Seafood is an essential component of these food systems and a critical source of nutrients, especially in coastal communities. However, despite rapid transformations in aquatic food systems, and our urgent need to understand them, there is a dearth of data connecting harvested food production to actualized food consumption.

Procedural Guide for System-Level Impact Evaluation of Industrial Artificial Intelligence-Driven Technologies: Application to Risk-Based Investment Analysis for Condition Monitoring Systems in Manufacturing.

Industrial artificial intelligence (IAI) and other analysis tools with obfuscated internal processes are growing in capability and ubiquity within industrial settings. Decision-makers share their concern regarding the objective evaluation of such tools and their impacts at the system level, facility level, and beyond. One application where this style of tool is making a significant impact is in Condition Monitoring Systems (CMSs).

Study Protocol: Interactive Dynamics of Coral Reef Fisheries and the Nutrition Transition in Kiribati.

The Kiribati 2019 Integrated Household Income and Expenditure Survey (Integrated HIES) embeds novel ecological and human health research into an ongoing social and economic survey infrastructure implemented by the Pacific Community in partnership with national governments. This study seeks to describe the health status of a large, nationally representative sample of a geographically and socially diverse I-Kiribati population through multiple clinical measurements and detailed socio-economic surveys, while also conducting supporting food systems research on ecological, social, and institutional drivers of change. The specific hypotheses within this research relate to access to seafood and the potential nutritional and health benefits of these foods.

Health Within Reach-a Patient-Centered Intervention to Increase Hepatitis B Screening Among Asian Americans: a Randomized Clinical Trial.

Background: There are few studies to date of interventions to increase viral hepatitis screening among Asian Americans, who have high rates of chronic hepatitis B (HBV) infection.

Objective: To develop, implement, and test the efficacy of a mobile application (Hepatitis App) delivered in four languages to increase HBV screening among Asian Americans.

Design: Cluster-randomized clinical trial.

A Typology of Food Environments in the Pacific Region and Their Relationship to Diet Quality in Solomon Islands.

Extensive literature describes the importance of food environments (FEs) as a driver of food choices and nutrition outcomes; yet existing FE frameworks do not adequately capture the diversity of FEs relevant to the Pacific Region. This limits identification of opportunities in food systems to reduce the multiple burden of malnutrition. We present a conceptual typology of FEs including six primary FEs relevant in the Pacific; wild; cultivated; kin and community; informal retail; formal retail; and food aid and services.

Correlation between social media utilization by academic neurosurgery departments and higher online patient ratings.

Objective: Patients increasingly utilize online physician review websites (PRWs) and social media to inform healthcare-related decisions. This provides neurosurgeons with opportunities for increased patient engagement. And despite the growing use of social media among neurosurgeons, the relationship between social media utilization and online reviews remains unknown.

The Fanconi anemia ubiquitin E3 ligase complex as an anti-cancer target.

Agents that induce DNA damage can cure some cancers. However, the side effects of chemotherapy are severe because of the indiscriminate action of DNA-damaging agents on both healthy and cancerous cells. DNA repair pathway inhibition provides a less toxic and targeted alternative to chemotherapy.

Long live A(me)rica! An examination of the interplay between nationalistic-symbolic immortality striving and belief in life after death.

Terror management theory (TMT) proposes that the awareness of our eventual death is at odds with our evolved desire to live and that humans attempt to resolve this psychological conflict by investing in cultural worldviews that grant symbolic or literal immortality. The present studies examine the interplay between symbolic and literal immortality striving. Three studies show that, following a death reminder, only individuals who did not have a route to literal immortality (belief in an afterlife) increased how long they believe their culture (Canada in Studies 1 and 2, the United States in Study 3), will last by thousands of years.

IgE and IgG epitopes revealed on the major fish allergen Lat c 1.

Background: The IgE- and IgG-binding patterns of the major fish allergen parvalbumins are not clearly understood. IgE antibody-binding to parvalbumin from Asian seabass, Lat c 1.01, is implicated in up to 90 % of allergic reactions, although the region of IgE or IgG4 epitopes are unknown.

Aquatic Foods and Nutrition in the Pacific.

National rates of aquatic food consumption in Pacific Island Countries and Territories are among the highest in the world, yet the region is suffering from extensive levels of diet-related ill health. The aim of this paper is to examine the variation in consumption patterns and in nutrient composition of aquatic foods in the Pacific, to help improve understanding of their contribution to food and nutrition security. For this examination we analysed nutrient composition data and trade data from two novel region-specific databases, as well as consumption data from national and village level surveys for two Melanesian case studies, Vanuatu and Solomon Islands.

Samarium isotope compositions of uranium ore concentrates: A novel nuclear forensic signature.

Uranium ore is mined and milled to produce uranium ore concentrate (UOC), a regulated product of the nuclear fuel cycle. Diversion of UOC from the fuel cycle into possible weapons production is a key concern in global nonproliferation efforts. As such, the ability to trace the origin of seized nuclear materials is imperative to law enforcement efforts.

COVID-19 and Pacific food system resilience: opportunities to build a robust response.

The unfolding COVID-19 pandemic has exposed the vulnerability of the Pacific food system to externalities and has had far-reaching impacts, despite the small number of COVID-19 cases recorded thus far. Measures adopted to mitigate risk from the pandemic have had severe impacts on tourism, remittances, and international trade, among other aspects of the political economy of the region, and are thus impacting on food systems, food security and livelihoods. Of particular concern will be the interplay between loss of incomes and the availability and affordability of local and imported foods.

Methodology for the identification of small molecule inhibitors of the Fanconi Anaemia ubiquitin E3 ligase complex.

DNA inter-strand crosslinks (ICLs) threaten genomic stability by creating a physical barrier to DNA replication and transcription. ICLs can be caused by endogenous reactive metabolites or from chemotherapeutics. ICL repair in humans depends heavily on the Fanconi Anaemia (FA) pathway.

Monoubiquitination by the human Fanconi anemia core complex clamps FANCI:FANCD2 on DNA in filamentous arrays.

FANCI:FANCD2 monoubiquitination is a critical event for replication fork stabilization by the Fanconi anemia (FA) DNA repair pathway. It has been proposed that at stalled replication forks, monoubiquitinated-FANCD2 serves to recruit DNA repair proteins that contain ubiquitin-binding motifs. Here, we have reconstituted the FA pathway in vitro to study functional consequences of FANCI:FANCD2 monoubiquitination.

Preparation and purification of mono-ubiquitinated proteins using Avi-tagged ubiquitin.

Site-specific conjugation of ubiquitin onto a range of DNA repair proteins regulates their critical functions in the DNA damage response. Biochemical and structural characterization of these functions are limited by an absence of tools for the purification of DNA repair proteins in purely the ubiquitinated form. To overcome this barrier, we designed a ubiquitin fusion protein that is N-terminally biotinylated and can be conjugated by E3 RING ligases onto various substrates.

Observations on Developing Reliability Information Utilization in a Manufacturing Environment with Case Study: Robotic Arm Manipulators.

Manufacturing environments face many unique challenges in regards to balancing high standards of both product quality and production efficiency. Proper diagnostic health assessment is essential for maximizing uptime and maintaining product and process quality. Information for diagnostic assessments, and reliability information in general, can come from a myriad of sources that can be processed and managed through numerous algorithms that range from simplistic to hyper complex.

Comparison of immune infiltrates in melanoma and pancreatic cancer highlights VISTA as a potential target in pancreatic cancer.

Immune checkpoint therapy (ICT) has transformed cancer treatment in recent years; however, treatment response is not uniform across tumor types. The tumor immune microenvironment plays a critical role in determining response to ICT; therefore, understanding the differential immune infiltration between ICT-sensitive and ICT-resistant tumor types will help to develop effective treatment strategies. We performed a comprehensive analysis of the immune tumor microenvironment of an ICT-sensitive tumor (melanoma, = 44) and an ICT-resistant tumor (pancreatic cancer, = 67).

Evaluation of energy dissipation rate as a predictor of mechanical blood damage.

A long-standing goal in the field of biofluid mechanics has been to reliably predict hemolysis across the wide range of flows that can occur in prosthetic cardiovascular devices. A scalar representation of the complex three-dimensional fluid stresses that are exerted on cells is an attractive alternative for the simplicity that it lends to the computations. The appropriateness of the commonly used von-Mises-like scalar stress as a universal hemolysis scaling parameter was previously evaluated, finding that erythrocyte membrane tensions calculated for laminar shear and extensional flows and for three cases of turbulent flow were widely divergent for the same value of scalar stress.

Hierarchical Modeling of a Manufacturing Work Cell to Promote Contextualized PHM Information Across Multiple Levels.

With the ever-increasing demand for reconfigurability and modularity in manufacturing, industrial work cells are increasingly integrating newer and more diverse technologies to not only support the production of a wider range of parts, but also ease the repair or replacement of faulty systems and components. Complex relationships between different elements of a work cell originate from the integration of multiple layers of hardware and software needed to successfully execute the complicated manufacturing processes. Much work within the science of PHM (prognostics and health management) has been dedicated towards the management of some of this complexity via monitoring, diagnostic, and prognostic technologies.

Integrative analysis reveals CD38 as a therapeutic target for plasma cell-rich pre-disease and established rheumatoid arthritis and systemic lupus erythematosus.

Background: Plasmablasts and plasma cells play a key role in many autoimmune diseases, such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). This study was undertaken to evaluate the potential of targeting CD38 as a plasma cell/plasmablast depletion mechanism by daratumumab in the treatment of patients with RA and SLE.

Methods: RNA-sequencing analysis of synovial biopsies from various stages of RA disease progression, flow cytometry analysis of peripheral blood mononuclear cells (PBMC) from patients with RA or SLE and healthy donors, immunohistochemistry assessment (IHC) of synovial biopsies from patients with early RA, and ex vivo immune cell depletion assays using daratumumab (an anti-CD38 monoclonal antibody) were used to assess CD38 as a therapeutic target.

Lupine allergen detecting capability and cross-reactivity of related legumes by ELISA.

Lupine belongs to the genus Lupinus and includes three species commonly consumed by humans. The Lupinus genus is closely related to other legumes, such as peanuts, soya, chickpeas, peas, lentils and beans. However, the consumption of lupine (and related legumes) can cause severe allergenic reactions.

Colorectal cancer beliefs, knowledge, and screening among Filipino, Hmong, and Korean Americans.

Background: To the authors' knowledge, there are few studies to date regarding colorectal cancer (CRC) beliefs, knowledge, and screening among multiple Asian American populations, who are reported to have lower CRC screening rates compared with white individuals. The current study was performed to assess knowledge and beliefs regarding the causes of CRC, its prevention, and factors associated with CRC screening among 3 Asian American groups.

Methods: The authors conducted an in-language survey with Filipino (Honolulu, Hawaii), Hmong (Sacramento, California), and Korean (Los Angeles, California) Americans aged 50 to 75 years who were sampled through social networks.