Epistatic effects of IGHG and FCGRIIB genes on the development of Alzheimer's disease in African Americans.

Genome-wide association studies (GWAS) of Alzheimer's disease (AD) have identified a large number of susceptibility genes, but most of AD heritability remains unexplained, implying the existence of additional genes. Furthermore, the majority of the GWAS have been conducted in people of European descent, and the genes important for AD susceptibility in people of African descent have been underexplored. In this hypothesis-generating prospective cohort study, we genotyped 191 African Americans (AAs) from three longitudinal cohorts on aging for the IgG3 allotype GM6, which is expressed exclusively in people of African descent, and assessed its interaction with IGHG, FCGRIIB, and HLA-DRB1 genes.

Pulmonologists' Attitudes and Role in Precision Medicine Biomarker Testing for Non-Small Cell Lung Cancer.

Background: Despite advances in precision medicine for non-small cell lung cancer (NSCLC), biomarker testing for these therapies remains frequently underused, delayed, and inequitable. Pulmonologists often play a critical role in the initial diagnostic steps for patients with lung cancer, and previous data show variability in their knowledge and practices regarding biomarker testing. The purpose of this study is to better understand how pulmonologists view their role in lung cancer care.

Alpha-1 Antitrypsin Augmentation Therapy in Chronic Pancreatitis Patients Undergoing Total Pancreatectomy and Islet Autotransplantation: A Randomized, Controlled Study.

Stress-induced islet graft loss during the peri-transplantation period reduces the efficacy of islet transplantation. In this prospective, randomized, double-blind clinical trial, we evaluated the safety and efficacy of 60 mg/kg human alpha-1 antitrypsin (AAT) or placebo infusion weekly for four doses beginning before surgery in chronic pancreatitis (CP) patients undergoing total pancreatectomy and islet autotransplantation (TP-IAT). Subjects were followed for 12 months post-TP-IAT.

Text And Telephone Screening And Referral Improved Detection And Treatment Of Maternal Mental Health Conditions.

Effective screening and referral practices for perinatal mental health disorders, perinatal substance use disorders (SUDs), and intimate partner violence are greatly needed to reduce maternal morbidity and mortality. We conducted a randomized controlled trial from January 2021 to April 2023 comparing outcomes between Listening to Women and Pregnant and Postpartum People (LTWP), a text- and telephone-based screening and referral program, and usual care in-person screening and referral within the perinatal care setting. Participants assigned to LTWP were three times more likely to be screened compared with those assigned to usual care.

Utilizing multimodal mass spectrometry imaging for profiling immune cell composition and N-glycosylation across colorectal carcinoma disease progression.

Colorectal cancer (CRC) stands as a leading cause of death worldwide, often arising from specific genetic mutations, progressing from pre-cancerous adenomas to adenocarcinomas. Early detection through regular screening can result in a 90% 5-year survival rate for patients. However, unfortunately, only a fraction of CRC cases are identified at pre-invasive stages, allowing progression to occur silently over 10-15 years.

Impact of Reducing Fluoroscopy Pulse Rate on Adult Modified Barium Swallow Studies.

Modified Barium Swallow Studies (MBSS) are a critical part of the evaluation, treatment planning, and outcome assessment for persons with swallowing disorders. Since MBSSs use ionizing radiation with associated cancer risks, many clinicians have reduced radiation exposure by reducing the fluoroscopic pulse rate. However, by reducing pulse rate, we also decrease the temporal resolution of MBSSs which has been shown in pilot studies to significantly reduce diagnostic accuracy.

Establishing New Isosexual Pairs in Adult Male Guinea Pigs () to Facilitate Social Housing.

Guinea pigs () are a commonly used species in biomedical research. As social creatures, compatible guinea pigs should be housed together unless scientific objectives or veterinary care require otherwise. Extensive literature suggests that adult male guinea pigs are highly aggressive in the presence of females, but data are lacking regarding the compatibility of cohoused adult males in the absence of females.

A study of collagen refractility in dermatofibroma and dermatofibrosarcoma protuberans using diffractive microscopy.

Background: Diffractive microscopy creates contrast within samples that are otherwise uniform under bright light. This technique can highlight subtle differences in refractive indices within birefringent samples containing varying amounts of mature collagen. Dermatofibroma (DF) and dermatofibrosarcoma protuberans (DFSP) possess differences in their mature collagen content and, therefore, may be distinguishable using diffractive microscopy.

Comparison of three magnetic resonance imaging measures of brain iron in healthy and cocaine use disorder participants.

Several magnetic resonance imaging (MRI) measures for quantifying endogenous nonheme brain iron have been proposed. These correspond to distinct physical properties with varying sensitivities and specificities to iron. Moreover, they may depend not only on tissue iron concentration, but also on the intravoxel spatial pattern of iron deposition, which is complex in many brain regions.

Cytologic atypia of benign inflammatory versus neoplastic cutaneous squamous lesions.

Background: Cytologic atypia encompasses several features of abnormal cellular morphology. We sought to quantify these features in benign and premalignant/malignant squamous cell lesions to better characterize criteria for malignancy.

Methods: We conducted a rater-blinded observational study in which histopathology slides were evaluated under light microscopy, and the presence and relative quantity of 24 distinct cytological features were recorded, along with respective diagnoses.

Hyperbilirubinemia in hospitalized patients: Etiology and outcomes.

There is little information on the differential diagnosis and prognosis of hospitalized patients with hyperbilirubinemia. Here, we hypothesized that hyperbilirubinemia in hospitalized patients is associated with specific diseases and outcomes. This retrospective cohort analysis included patients admitted to the Medical University of South Carolina with a total bilirubin >3 mg/dL from January 9, 2015 to August 25, 2017.

Parental Experiences With Access to Care for Obstructive Sleep-Disordered Breathing: A Qualitative Study.

Objective: Despite evidence-based guidelines for obstructive sleep-disordered breathing (SDB), recent studies continue to highlight treatment inequities. We used qualitative research methods to examine parental facilitators and barriers to SDB treatment.

Study Design: Qualitative interviews.

Anticipating adaptation: tracking the impact of planned and unplanned adaptations during the implementation of a complex population-based genomic screening program.

In 2021, the Medical University of South Carolina (MUSC) launched In Our DNA SC. This large-scale initiative will screen 100,000 individuals in South Carolina for three preventable hereditary conditions that impact approximately two million people in the USA but often go undetected. In anticipation of inevitable changes to the delivery of this complex initiative, we developed an approach to track and assess the impact of evaluate adaptations made during the pilot phase of program implementation.

Sociodemographic Factors Affecting Loss to Follow-Up After Newborn Hearing Screening: A Systematic Review and Meta-Analysis.

Objective: Universal newborn hearing screening (NBHS) has been widely implemented as a part of early hearing detection and intervention (EHDI) programs worldwide. Even with excellent provider knowledge and screening rates, many infants do not receive definitive hearing testing or intervention after initial screening. The objective of this study was to identify sociodemographic factors contributing to loss of follow-up.

COPE and oxytocin for the treatment of co-occurring PTSD and alcohol use disorder: Design and methodology of a randomized controlled trial in U.S. military veterans.

Background: A significant proportion of individuals with alcohol use disorder (AUD) also meet criteria for posttraumatic stress disorder (PTSD). Military veterans are at increased risk for developing co-occurring AUD/PTSD, with prevalence rates 2-4 times higher than the general population. Research is needed to develop more effective treatments for this common comorbidity.

Fiber Ball White Matter Modeling Reveals Microstructural Alterations in Healthy Brain Aging.

Age-related white matter degeneration is characterized by myelin breakdown and neuronal fiber loss that preferentially occur in regions that myelinate later in development. Conventional diffusion MRI (dMRI) has demonstrated age-related increases in diffusivity but provide limited information regarding the tissue-specific changes driving these effects. A recently developed dMRI biophysical modeling technique, Fiber Ball White Matter (FBWM) modeling, offers enhanced biological interpretability by estimating microstructural properties specific to the intra-axonal and extra-axonal spaces.

Brain microstructure abnormalities in the 3xTg-AD mouse - A diffusion MRI and morphology correlation study.

The widely studied triple transgenic (3xTg-AD) mouse provides a robust model of Alzheimer's disease (AD) with region dependent patterns of progressive amyloid-β (Aß) and tau pathology. Using diffusion MRI (dMRI), we investigated the sensitivity of dMRI measures in capturing AD pathology associated microstructure alterations in older 3xTg-AD mice, and the degree to which dMRI changes correlate with measurements of Aβ and tau pathology. 3xTg-AD and normal control (NC) mice, 15 to 21 months of age, were used in this study.

Repetitive Transcranial Magnetic Stimulation for Tobacco Treatment in Cancer Patients: A Preliminary Report of a One-Week Treatment.

Background: Smoking cessation represents a significant opportunity to improve cancer survival rates, reduces the risk of cancer treatment complications, and improves quality of life. However, about half of cancer patients who smoke continue to smoke despite the availability of several treatments. Previous studies demonstrate that repetitive transcranial magnetic stimulation (rTMS) over the left dorsolateral prefrontal cortex (DLPFC) decreases cue craving, reduces cigarette consumption, and increases the quit rate in tobacco use disorder.

Safety, immunological effects and clinical response in a phase I trial of umbilical cord mesenchymal stromal cells in patients with treatment refractory SLE.

Background: Reports of clinical improvement following mesenchymal stromal cell (MSC) infusions in refractory lupus patients at a single centre in China led us to perform an explorative phase I trial of umbilical cord derived MSCs in patients refractory to 6 months of immunosuppressive therapy.

Methods: Six women with a SLEDAI >6, having failed standard of care therapy, received one intravenous infusion of 1×10 MSCs/kg of body weight. They maintained their current immunosuppressives, but their physician was allowed to adjust corticosteroids initially for symptom management.