A Scoping Study of Cultural Adaptation Frameworks.

Translating evidence-based intervention in public health is important to improve health behaviors and other outcomes and reduce health disparities. Culturally adapting intervention is one approach to reaching different cultural groups. The goals of this paper were to compile definitions of program adaptations, identify processes and steps in cultural adaptations, and pose recommendations for future research related to cultural adaptations.

Prion diseases disrupt glutamate/glutamine metabolism in skeletal muscle.

In prion diseases (PrDs), aggregates of misfolded prion protein (PrPSc) accumulate not only in the brain but also in extraneural organs. This raises the question whether prion-specific pathologies arise also extraneurally. Here we sequenced mRNA transcripts in skeletal muscle, spleen and blood of prion-inoculated mice at eight timepoints during disease progression.

Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features.

Introduction: This study investigates primary lateral sclerosis (PLS) as a rare manifestation of the presenilin 1 (PSEN1) NM_000021 c.851C > T p.Pro284Leu variant in three siblings of a Colombian family, outlining its clinical and neuropathological features and their relationship to Alzheimer's disease (AD).

Christchurch Heterozygosity and Autosomal Dominant Alzheimer's Disease.

Background: Variants in and (encoding apolipoprotein E and presenilin 1, respectively) alter the risk of Alzheimer's disease. We previously reported a delay of cognitive impairment in a person with autosomal dominant Alzheimer's disease caused by the variant who also had two copies of the apolipoprotein E3 Christchurch variant ( ). Heterozygosity for the variant may influence the age at which the onset of cognitive impairment occurs.

A structural equation model of CFIR inner and outer setting constructs, organization characteristics, and national DPP enrollment.

Background: The National Diabetes Prevention Program (DPP) has made great strides in increasing accessibility to its year-long, evidence-based lifestyle change program, with around 3000 organizations having delivered the program. This large dissemination effort offers a unique opportunity to identify organization-level factors associated with program implementation and reach (enrollment) across diverse settings. The purpose of this study was to quantitatively examine the relationships among Consolidated Framework for Implementation Research (CFIR) Inner Setting and Outer Setting constructs and the implementation outcome of reach.

Patterns of Sustainability Capacity Among Organizations That Deliver the National Diabetes Prevention Program: A Latent Profile Analysis.

Introduction: Since the launch of the National Diabetes Prevention Program (DPP) in 2010, more than 3,000 organizations have registered with the Centers for Disease and Control and Prevention to deliver the program; today, however, only approximately 2,000 organizations are registered, indicating challenges with sustainability. We used the Program Sustainability Assessment Tool (PSAT) to explore patterns of sustainability capacity among National DPP delivery organizations.

Methods: We used data from a cross-sectional online survey conducted in August and September 2021 of staff members (N = 440) at National DPP delivery organizations.

Psychological Status of the Participants in Alzheimer's Prevention Initiative Autosomal Dominant Alzheimer's Disease Colombia.

Background: The SARS-CoV2 global pandemic impacted participants in the Alzheimer's Prevention Initiative (API) Autosomal Dominant Alzheimer's Disease (ADAD) clinical trial, who faced three stressors: 1) fear of developing dementia; 2) concerns about missing treatment; and 3) risk of SARS-CoV2 infection.

Objective: To describe the frequency of psychological disorders among the participants of the API ADAD Colombia clinical study, treated by a holistic mental health team during the COVID-19 pandemic. The extent of use of mental health team services was explored considering different risk factors, and users and non-users of these services were compared.

Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.

Variants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. cblC is associated with neurodevelopmental, hematological, ocular, and biochemical abnormalities. In a subset of patients, mild craniofacial dysmorphia has also been described.

Abnormal chondrocyte intercalation in a zebrafish model of syndrome restored by an MMACHC cobalamin binding mutant.

Variants in the gene cause combined methylmalonic acidemia and homocystinuria type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. is associated with neurodevelopmental, hematological, ocular, and biochemical abnormalities. In a subset of patients, mild craniofacial dysmorphia has also been described.

A scoping review of outer context constructs in dissemination and implementation science theories, models, and frameworks.

Many studies have explored organizational factors that facilitate implementation. However, there is still a limited understanding of determinants external to the implementing organization and their effects on evidence-based intervention (EBI) adoption, implementation, and outcomes. The purpose of this scoping review was to assess definitions of context and identify salient determinants of outer context found in dissemination and implementation theories, models, and frameworks.

Signatures for viral infection and inflammation in the proximal olfactory system in familial Alzheimer's disease.

Alzheimer's disease (AD) is characterized by deficits in olfaction and olfactory pathology preceding diagnosis of dementia. Here we analyzed differential gene and protein expression in the olfactory bulb (OB) and tract (OT) of familial AD (FAD) individuals carrying the autosomal dominant presenilin 1 E280A mutation. Compared to control, FAD OT had increased immunostaining for β-amyloid (Aβ) and CD68 in high and low myelinated regions, as well as increased immunostaining for Iba1 in the high myelinated region.

Continuous population-level monitoring of SARS-CoV-2 seroprevalence in a large European metropolitan region.

Effective public health measures against SARS-CoV-2 require granular knowledge of population-level immune responses. We developed a Tripartite Automated Blood Immunoassay (TRABI) to assess the IgG response against three SARS-CoV-2 proteins. We used TRABI for continuous seromonitoring of hospital patients and blood donors (n = 72'250) in the canton of Zurich from December 2019 to December 2020 (pre-vaccine period).

Cardiovascular risk factors across different levels of urbanization in Brazilian Afro-derived communities (quilombos).

Objectives: The frequency of cardiovascular diseases has increased throughout the world. People of African descent have been disproportionately affected, particularly if they reside in urban settings. In this work, we evaluate risk factors associated with cardiovascular diseases (CVD) and other chronic diseases in rural and urban Afro-derived communities (quilombo) in Central Brazil.

Inner and outer setting factors that influence the implementation of the National Diabetes Prevention Program (National DPP) using the Consolidated Framework for Implementation Research (CFIR): a qualitative study.

Background: Scaling evidence-based interventions are key to impacting population health. The National DPP lifestyle change program is one such intervention that has been scaled across the USA over the past 20 years; however, enrollment is an ongoing challenge. Furthermore, little is known about which organizations are most successful with program delivery, enrollment, and scaling.

Both COVID-19 infection and vaccination induce high-affinity cross-clade responses to SARS-CoV-2 variants.

The B.1.1.

Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings.

Hereditary ataxias are a group of devastating neurological disorders that affect coordination of gait and are often associated with poor coordination of hands, speech, and eye movements. Ataxia with ocular apraxia type 1 (AOA1) (OMIM: 606,350.0006) is characterized by slowly progressive symptoms of childhood-onset and pathogenic mutations in APTX; the only known cause underpinning AOA1.

Substance Use-Related Cognitive Decline in Families with Autosomal Dominant Alzheimer's Disease: A Cohort Study.

Background: Cigarette smoking is a known risk factor for Alzheimer's disease (AD). However, the association between neurodegeneration and other substances has not been fully determined. It is of vital importance to evaluate this relationship in populations at high risk of dementia.

Microfluidic characterisation reveals broad range of SARS-CoV-2 antibody affinity in human plasma.

The clinical outcome of SARS-CoV-2 infections, which can range from asymptomatic to lethal, is crucially shaped by the concentration of antiviral antibodies and by their affinity to their targets. However, the affinity of polyclonal antibody responses in plasma is difficult to measure. Here we used microfluidic antibody affinity profiling (MAAP) to determine the aggregate affinities and concentrations of anti-SARS-CoV-2 antibodies in plasma samples of 42 seropositive individuals, 19 of which were healthy donors, 20 displayed mild symptoms, and 3 were critically ill.

An Exploratory Assessment of Sociocultural Attitudes and Appearance Comparison Among Athletes With Physical Disabilities.

This study aimed to assess the internalization of sociocultural attitudes and appearance comparison among U.S. athletes with physical disabilities.

Molecular Interactions between Dietary Lipids and Bone Tissue during Aging.

Age-related bone disorders such as osteoporosis or osteoarthritis are a major public health problem due to the functional disability for millions of people worldwide. Furthermore, fractures are associated with a higher degree of morbidity and mortality in the long term, which generates greater financial and health costs. As the world population becomes older, the incidence of this type of disease increases and this effect seems notably greater in those countries that present a more westernized lifestyle.

The distribution in native populations from Mexico and Central America of the C677T variant in the MTHFR gene.

Objectives: To explore evolutionary hypotheses for the high frequencies of a substitution in the methylenetetrahydrofolate reductase (MTHFR) gene, in Mexican and Central American Indigenous populations.

Materials And Methods: We obtained allele frequencies for the C677T variant in the MTHFR gene and ecological information for 37 indigenous samples from Mexico and Central America. We calculated Hardy-Weinberg equilibrium and computed Fst statistics.