Prime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy.

TREX1 mutations underlie a variety of human diseases, including retinal vasculopathy with cerebral leukoencephalopathy (RVCL or RVCL-S), a catastrophic adult-onset vasculopathy that is often confused with multiple sclerosis, systemic vasculitis, or systemic lupus erythematosus. Patients with RVCL develop brain, retinal, liver, and kidney disease around age 35-55, leading to premature death in 100% of patients expressing an autosomal dominant C-terminally truncated form of TREX1. We previously demonstrated that RVCL is characterized by high levels of DNA damage, premature cellular senescence, and risk of early-onset breast cancer before age 45.

A Decade of Death and Other Dynamics: Deepening Perspectives on the Diversity and Distribution of Sea Stars and Wasting.

AbstractMass mortality events provide valuable insight into biological extremes and also ecological interactions more generally. The sea star wasting epidemic that began in 2013 catalyzed study of the microbiome, genetics, population dynamics, and community ecology of several high-profile species inhabiting the northeastern Pacific but exposed a dearth of information on the diversity, distributions, and impacts of sea star wasting for many lesser-known sea stars and a need for integration across scales. Here, we combine datasets from single-site to coast-wide studies, across time lines from weeks to decades, for 65 species.

Intelligence is a poor predictor of nonrestorability of competence to stand trial.

Criminal defendants found incompetent to stand trial (IST) may only be committed for competency restoration if their restoration success is considered likely and when this aim can be met within a "reasonable" period of time. In this study, we evaluated the predictive validity and test accuracy of standardized intelligence testing on the classification of nonrestorability in a sample of 293 male patients adjudicated IST and committed for inpatient restoration. At 90 days, 17.

Quantifying Adverse Childhood Experiences in Oklahoma With the Oklahoma Adversity Surveillance Index System (OASIS): Development and Cross-Sectional Study.

Background: Developmental trauma depending on several factors may lead to later adult health risks and is an increasing public health concern, especially in states with predominantly rural populations. Oklahoma remains one of the states in America with the highest count of adverse childhood experiences (ACEs); therefore, more refined research methods for quantifying ACEs are vital for ensuring proper statewide interventions.

Objective: While data sets already exist at the state level measuring specific ACEs like divorce or child abuse, the state currently lacks a single source for specific ACEs that can incorporate regions to allow for the identification of counties where ACEs are especially high.

Acceptance and Risk Perception of COVID-19 Vaccination among Pregnant and Non Pregnant Women in Sub-Saharan Africa: A Cross-Sectional Matched-Sample Study.

This study aims to evaluate the acceptance and risk perception of pregnant and non pregnant women towards COVID-19 vaccines using a cross-sectional matched-sample study approach. A web-based questionnaire with closed- and open-ended questions was administered to adults older than 18 years in the sub-Saharan African (SSA) region. Respondents ( = 131) were grouped based on their pregnancy status (54 pregnant and 77 non pregnant women) and matched for comparison by age.

Acceptance of COVID-19 vaccine among sub-Saharan Africans (SSA): a comparative study of residents and diasporan dwellers.

Background: The COVID-19 vaccines are being rolled out across all the sub-Saharan Africa (SSA) countries, with countries setting targets for achieving full vaccination rates. The aim of this study was to compare the uptake of, resistance and hesitancy to the COVID-19 vaccine between SSA locally residents and in the diasporan dwellers.

Methods: This was a cross-sectional study conducted using a web and paper-based questionnaire to obtain relevant information on COVID-19 vaccine acceptance.

The impact of information sources on COVID-19 vaccine hesitancy and resistance in sub-Saharan Africa.

Background: Vaccination remains the most powerful weapon against the emergence of new variants of coronavirus (COVID-19). However, false information about COVID-19 vaccines through various platforms including social media remains a major threat to global public health. This study examined the impact of information sources on COVID-19 vaccine hesitancy and resistance in sub-Saharan Africa (SSA).

Public awareness and perception towards COVID-19 in Sub-Saharan African countries during the lockdown.

The coronavirus disease (COVID-19) outbreak has caused a universal health crisis resulting in significant morbidities and mortalities particularly among high-risk groups. This study sought to determine regional factors associated with knowledge and attitude towards COVID-19 mitigation practices and risk perception of contracting the disease in Sub-Saharan African (SSA) countries. A cross-sectional anonymous online study was conducted among 1970 participants between April and May 2020, during the lockdown in many SSA countries.

The IFN-γ receptor promotes immune dysregulation and disease in STING gain-of-function mice.

STING gain-of-function mutations cause STING-associated vasculopathy with onset in infancy (SAVI) in humans, a disease characterized by spontaneous lung inflammation and fibrosis. Mice with STING gain-of-function mutations (SAVI mice) develop αβ T cell-dependent lung disease and also lack lymph nodes. Although SAVI has been regarded as a type I interferonopathy, the relative contributions of the three interferon receptors are incompletely understood.

Analysis of Perception, Reasons, and Motivations for COVID-19 Vaccination in People with Diabetes across Sub-Saharan Africa: A Mixed-Method Approach.

Diabetes mellitus (DM) is associated with severe COVID-19 infection and complications. This study assesses COVID-19 vaccine acceptance and hesitancy in people with DM, and explores the reasons for not being vaccinated. This was a web-based cross-sectional survey using a mixed-method approach conducted in March-May 2021, corresponding to most Sub-Saharan African (SSA) countries' early vaccine rollout period.

Assessment of primary health care workers' knowledge and skill for COPD and asthma screening and diagnosis in Jos LGA of Plateau State.

Introduction: chronic obstructive pulmonary disease and asthma are the commonest of the group of Chronic Respiratory Diseases. Primary Health Care workers play a role in the prevention of these diseases. The aim of this study was to determine the knowledge and diagnostic skills of PHC workers on COPD and asthma in a local government area of Plateau State, Nigeria.

Economic, Health and Physical Impacts of COVID-19 Pandemic in Sub-Saharan African Regions: A Cross Sectional Survey.

Purpose: The key preventive measures adopted to minimise the spread of the coronavirus disease (COVID-19) had significant health, economic and physical impacts mostly in developing countries. This study evaluated the health, economic and physical impacts of COVID-19 lockdown measures among sub-Saharan African (SSA) population and associated demographic variations.

Methods: A total of 1970 respondents took part in this web-based cross-sectional survey during the mandatory lockdown period in most SSA.

Differences in Perceived Risk of Contracting SARS-CoV-2 during and after the Lockdown in Sub-Saharan African Countries.

This study investigated risk perception of contracting and dying of SARS-CoV-2 in sub-Sahara Africa during and after the lockdown periods. Two online surveys were conducted one year apart, with participants 18 years and above living in sub-Sahara Africa or the diaspora. Each survey took four weeks.

Risk perception of COVID-19 among sub-Sahara Africans: a web-based comparative survey of local and diaspora residents.

Background: Perceived risk towards the coronavirus pandemic is key to improved compliance with public health measures to reduce the infection rates. This study investigated how Sub-Saharan Africans (SSA) living in their respective countries and those in the diaspora perceive their risk of getting infected by the COVID-19 virus as well as the associated factors.

Methods: A web-based cross-sectional survey on 1969 participants aged 18 years and above (55.

Knowledge, Attitudes, and Perceptions of COVID-19 Among Healthcare and Non-Healthcare Workers in Sub-Saharan Africa: A Web-Based Survey.

Due to the current COVID-19 pandemic and associated high mortality in sub-Saharan Africa, there is panic among healthcare workers because of the higher risk of being infected. This study compared knowledge, attitudes, and perceptions of COVID-19 among healthcare workers (HCWs) and non-healthcare workers (non-HCWs) and examined common associated factors. A web-based cross-sectional study of 1,871 respondents (430 HCWs and 1,441 non-HCWs) was conducted while lockdown measures were in place in 4 regions of sub-Saharan Africa.

Assessment of safe handling practices among resident doctors in Jos University Teaching Hospital Plateau state, Nigeria.

Background: Standard safety precautions are essential in health care delivery regardless of the presumed infectious state of the patients. Safe handling practices as detailed in the universal safety precaution guidelines are available to health care workers globally. However, there have been documentation of suboptimal adherence to it especially in the developing countries including Nigeria.

Latitudinal variation in long-term stability of North American rocky intertidal communities.

Although long-term ecological stability is often discussed as a community attribute, it is typically investigated at the species level (e.g. density, biomass), or as a univariate metric (e.

Transferrable protection by gut microbes against STING-associated lung disease.

STING modulates immunity by responding to bacterial and endogenous cyclic dinucleotides (CDNs). Humans and mice with STING gain-of-function mutations develop a syndrome known as STING-associated vasculopathy with onset in infancy (SAVI), which is characterized by inflammatory or fibrosing lung disease. We hypothesized that hyperresponsiveness of gain-of-function STING to bacterial CDNs might explain autoinflammatory lung disease in SAVI mice.

Misinformation About COVID-19 in Sub-Saharan Africa: Evidence from a Cross-Sectional Survey.

Misinformation about coronavirus disease 2019 (COVID-19) is a significant threat to global public health because it can inadvertently exacerbate public health challenges by promoting spread of the disease. This study used a convenience sampling technique to examine factors associated with misinformation about COVID-19 in sub-Saharan Africa using an online cross-sectional survey. A link to the online self-administered questionnaire was distributed to 1,969 participants through social media platforms and the authors' email networks.

Breastfeeding Practices among Adolescent Mothers and Associated Factors in Bangladesh (2004-2014).

Optimal breastfeeding practices among mothers have been proven to have health and economic benefits, but evidence on breastfeeding practices among adolescent mothers in Bangladesh is limited. Hence, this study aims to estimate breastfeeding indicators and factors associated with selected feeding practices. The sample included 2554 children aged 0-23 months of adolescent mothers aged 12-19 years from four Bangladesh Demographic and Health Surveys collected between 2004 and 2014.

Prevalence and Factors Associated with Mental and Emotional Health Outcomes among Africans during the COVID-19 Lockdown Period-A Web-based Cross-Sectional Study.

Mental health and emotional responses to the effects of COVID-19 lockdown in sub-Saharan Africa (SSA) are of serious public health concern and may negatively affect the mental health status of people. Hence, this study assessed the prevalence of mental health symptoms as well as emotional reactions among sub-Saharan Africans (SSAs) and associated factors among SSAs during the COVID-19 lockdown period. This was a web-based cross-sectional study on mental health and emotional features from 2005 respondents in seven SSA countries.

STING Gain-of-Function Disrupts Lymph Node Organogenesis and Innate Lymphoid Cell Development in Mice.

STING gain-of-function causes autoimmunity and immunodeficiency in mice and STING-associated vasculopathy with onset in infancy (SAVI) in humans. Here, we report that STING gain-of-function in mice prevents development of lymph nodes and Peyer's patches. We show that the absence of secondary lymphoid organs is associated with diminished numbers of innate lymphoid cells (ILCs), including lymphoid tissue inducer (LTi) cells.

A Human STAT1 Gain-of-Function Mutation Impairs CD8 T Cell Responses against Gammaherpesvirus 68.

Autosomal dominant STAT1 mutations in humans have been associated with chronic mucocutaneous candidiasis (CMC), as well as with increased susceptibility to herpesvirus infections. Prior studies have focused on mucosal and Th17-mediated immunity against , but mechanisms of impaired antiviral immunity have not previously been examined. To begin to explore the mechanisms of STAT1-associated immunodeficiency against herpesviruses, we generated heterozygous STAT1 R274W knock-in mice that have a frequently reported STAT1 mutation associated in humans with susceptibility to herpesvirus infections.

STING-associated lung disease in mice relies on T cells but not type I interferon.

Background: Monogenic interferonopathies are thought to be mediated by type I interferon. For example, a gain-of-function mutation in stimulator of interferon genes (STING; N153S) upregulates type I interferon-stimulated genes and causes perivascular inflammatory lung disease in mice. The equivalent mutation in human subjects also causes lung disease, which is thought to require signaling through the cyclic GMP-AMP synthase (cGAS)-STING pathway and subsequent activation of interferon regulatory factors (IRFs) 3 and 7, type I interferon, and interferon-stimulated genes.