Quality of Life in Patients With Acquired Anophthalmia Using an Ocular Prosthesis.

Purpose: To employ a validated survey for evaluation of quality of life (QoL) outcomes and associated factors in a US cohort of adult patients with acquired anophthalmia wearing a prosthesis.

Methods: A retrospective cohort study was performed at a single, US academic institution of patients cared for between 2012 and 2021. The electronic medical record database was queried for adult patients with a history of evisceration or enucleation surgery and placement of an orbital implant.

Demographic, social and health system factors associated with maternal mortality in Pakistan: A nested case-control study.

Background: Pakistan has experienced a significant reduction in maternal mortality with a decline of 33 percent between 2006 and 2019. However, the country still grapples with a high number (186 per 100,000 live births) of maternal deaths each year. This study aims to identify socio-demographic and health system related factors associated with maternal mortality.

Defective removal of invariant chain peptides from MHC class II suppresses tumor antigen presentation and promotes tumor growth.

Tumor-draining lymph node dendritic cells (DCs) are poor stimulators of tumor antigen-specific CD4 T cells; however, the mechanism behind this defect is unclear. We now show that, in tumor-draining lymph node DCs, a large proportion of major histocompatibility complex class II (MHC-II) molecules retains the class II-associated invariant chain peptide (CLIP) fragment of the invariant chain bound to the MHC-II peptide binding groove due to reduced expression of the peptide editor H2-M and enhanced activity of the CLIP-generating proteinase cathepsin S. The net effect of this is that MHC-II molecules are unable to efficiently bind antigenic peptides.

Evaluating the Effectiveness of a Multimodal Psychotherapy Training Program for Medical Students in China: Protocol for a Randomized Controlled Trial.

Background: Psychotherapy is central to the treatment of mental disorders, highlighting the importance of medical students and residents developing competencies in this area. Chinese medical residents have expressed a strong need for psychotherapy training, yet they are generally dissatisfied with the current offerings. This paper presents the protocol for an evidence-based, well-structured psychotherapy teaching program aimed at medical students and residents.

US State Public Health Agencies' Use of Twitter From 2012 to 2022: Observational Study.

Background: Twitter (subsequently rebranded as X) is acknowledged by US health agencies, including the US Centers for Disease Control and Prevention (CDC), as an important public health communication tool. However, there is a lack of data describing its use by state health agencies over time. This knowledge is important amid a changing social media landscape in the wake of the COVID-19 pandemic.

Lung Cancer Screening in the Incarcerated Population Through a Community Imaging Partnership.

Limited data exist on cancer screening in carceral facilities. This study evaluates the feasibility and outcomes of a population-based lung cancer screening initiative in a carceral setting. This is a retrospective review of a lung cancer screening event at the Rhode Island Department of Corrections.

Incidence of Adjacent Synchronous Ipsilateral Infiltrating Carcinoma and/or Ductal Carcinoma In Situ in Patients Diagnosed with Flat Epithelial Atypia by Core Needle Biopsy (TBCRC 034).

Background: Flat epithelial atypia (FEA), a rare breast proliferative lesion, is often diagnosed following core biopsy (CB) of mammographic microcalcifications. In the prospective multi-institution TBCRC 034 trial, we investigate the upgrade rate to ductal carcinoma in situ (DCIS) or invasive cancer following excision for patients diagnosed with FEA on CB.

Patients And Methods: Patients with a breast imaging reporting and data system (BI-RADS) ≤ 4 imaging abnormality and a concordant CB diagnosis of FEA were identified for excision.

Defining Textbook Outcomes for Minimally Invasive Surgical Resection of Small Gastrointestinal Stromal Tumors (GIST) of the Stomach.

Background: Textbook outcome (TO) has been utilized to assess the quality of surgical care. This study aimed to define TO rates for minimally invasive gastric gastrointestinal stromal tumor (GIST) resections in a bi-institutional cohort.

Methods: Patients with gastric GIST (≤ 5 cm) who underwent laparoscopic or robotic resection (January 2014 to January 2024) were retrospectively identified from two GIST centers.

The Age-Old Question in Nipple-Sparing Mastectomy: Is Older Age a Contraindication?

Background: Nipple-sparing mastectomy (NSM) is infrequently performed in older women, at least in part owing to concerns regarding age-related complications. We describe postoperative outcomes of NSM in older women and risk factors for complications, with the goal of informing patient selection and decision-making.

Patients And Methods: Cases of NSM with immediate implant-based reconstruction were identified from an institutional database (2009-2019).

Intravenous thrombolysis in patients with acute dizziness or imbalance and suspected ischemic stroke-systematic review.

Background: Correct identification of those patients presenting with an acute vestibular syndrome (AVS) or an acute imbalance syndrome (AIS) that have underlying posterior-circulation stroke (PCS) and thus may benefit from revascularization (intravenous thrombolysis (IVT), endovascular therapy (EVT)) is important. Treatment guidelines for AVS/AIS patients are lacking. We reviewed the evidence on acute treatment strategies in AVS/AIS focusing on predictors for IVT/EVT and outcome.

Basic Science and Pathogenesis.

Background: Despite significant advancements in the development of blood biomarkers for AD, challenges persist due to the complex interplay of genetic and environmental risk factors in AD pathogenesis. Epigenetic processes, including non-coding RNAs and especially microRNAs (miRs), have emerged as important players in the molecular mechanisms underlying neurodegenerative diseases. MiRs have the ability to fine-tune gene expression and proteostasis, and microRNAome profiling in liquid biopsies is gaining increasing interest since changes in miR levels can indicate the presence of multiple pathologies.

SNP rs6543176 is associated with extreme human longevity but increased risk for cancer.

Using whole-genome sequencing (WGS) might offer insights into rare genetic variants associated with healthy aging and extreme longevity (EL), potentially pointing to useful therapeutic targets. In this study, we conducted a genome-wide association study using WGS data from the Long Life Family Study and identified a novel longevity-associated variant rs6543176 in the SLC9A2 gene. This SNP also showed a significant association with reduced hypertension risk and an increased, though not statistically significant, cancer risk.

Basic Science and Pathogenesis.

Background: Several viruses have been linked to Alzheimer disease (AD) by independent lines of evidence.

Method: Whole genome and whole exome sequences (WGS/WES) derived from brain (3,404 AD cases, 894 controls) and blood (15,612 AD cases, 24,544 controls) obtained from European ancestry (EU), African American (AA), Mexican (HMX), South Asian Indian (IND), and Caribbean Hispanic (CH) participants of the Alzheimer's Disease Sequencing Project (ADSP) and 276 AD cases 3,584 controls (all EU) from the Framingham Heart Study (FHS) that did not align to the human reference genome were aligned to viral reference genomes. A genome-wide association study (GWAS) for viral DNA load was conducted using PLINK software and regression models with covariates for sex, age, ancestry principal components, and tissue source.

Basic Science and Pathogenesis.

Background: Single-nucleus RNA sequencing (snRNAseq) allows for the dissection of the cell type-specific transcriptional profiles of tissue specimens. In this study, we compared gene expression in multiple brain cell types in brain tissue from Alzheimer disease (AD) cases with no or other co-existing pathologies including Lewy body disease (LBD) and vascular disease (VaD).

Method: We evaluated differential gene expression measured from single nucleus RNA sequencing (snRNAseq) data generated from the hippocampus region tissue donated by 11 BU ADRC participants with neuropathologically confirmed AD with or without a co-existing pathology (AD-only = 3, AD+VaD = 6, AD+LBD = 2).

Basic Science and Pathogenesis.

Background: Genome-wide association studies (GWAS) in Alzheimer's disease (AD) leveraging endophenotypes beyond case/control diagnosis, such as brain amyloid β pathology, have shown promise in identifying novel variants and understanding their potential functional impact. In this study, we leverage two brain amyloid β pathology measurement modalities, PET imaging and neuropathology, to address sample size limitations and to discover novel genetic drivers of disease.

Method: We conducted a meta-analysis on an amyloid PET imaging GWAS (N = 7,036, 35% amyloid positive, 53.

Basic Science and Pathogenesis.

Background: Alzheimer's disease (AD) has both genetic and environmental risk factors. Gene-environment interaction may help explain some missing heritability. There is strong evidence for cigarette smoking as a risk factor for AD.

Basic Science and Pathogenesis.

Background: Alzheimer's disease (AD) is highly comorbid with Limbic-predominant age-related TDP-43 encephalopathy neuropathological change (LATE-NC), and the combined AD+LATE-NC is more common than either pathology alone. However, the topographic relationship between tau and TDP-43 in AD+LATE-NC remains unclear.

Method: We analyzed the data from the Religious Orders Study (ROS) and the Rush Memory and Aging Project (MAP) participants.

Basic Science and Pathogenesis.

Background: We aim to investigate efficacies of Ras homolog (Rho)-associated kinases (ROCK) inhibitors on Alzheimer's disease (AD) pathological proteins in human induced pluripotent stem cell (iPSC)-differentiated human neurons and the P301S tau transgenic mouse model (PS19).

Method: Quantitative liquid chromatography-mass spectrometry (LC-MS/MS) and targeted ELISA were implemented to investigate the effect of treatment with fasudil or its derivatives on the human neurons and brains from PS19 mice. We explored the efficacy of these ROCK inhibitors in reducing tau phosphorylation, and the brain proteomic profiles after their administration in mice.

Basic Science and Pathogenesis.

Background: Individuals with Down syndrome (DS) have an increased genetic risk of developing Alzheimer's disease (AD), with most adults developing AD neuropathology in their 40s. Despite having a low frequency of systemic vascular risk factors such as hypertension and atherosclerosis, adults with DS display cerebrovascular pathology, including microbleeds, microinfarcts, and cerebral amyloid angiopathy. This suggests that blood-brain barrier (BBB) integrity may be compromised allowing the extravasation of blood proteins in the brain parenchyma.