A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

EZH1, a polycomb repressive complex-2 component, is involved in a myriad of cellular processes. EZH1 represses transcription of downstream target genes through histone 3 lysine27 (H3K27) trimethylation (H3K27me3). Genetic variants in histone modifiers have been associated with developmental disorders, while EZH1 has not yet been linked to any human disease.

Seroepidemiology for Enteric Fever: Emerging Approaches and Opportunities.

Safe and effective typhoid conjugate vaccines (TCVs) are available, but many countries lack the high-resolution data needed to prioritize TCV introduction to the highest-risk communities. Here we discuss seroepidemiology-an approach using antibody response data to characterize infection burden-as a potential tool to fill this data gap. Serologic tests for typhoid have existed for over a hundred years, but only recently were antigens identified that were sensitive and specific enough to use as epidemiologic markers.

Exploring risk factors for persistent neurocognitive sequelae after hospitalization for COVID-19.

Objective: In this study of patients hospitalized during acute SARS-CoV2 infection with 6-months of follow-up data, we identified risk factors associated with the development of neuro-PASC.

Methods: We conducted an exploratory, observational single-center cohort study of patients hospitalized for COVID-19 from November 2020 to March 2022. Our primary outcome was persistent neurocognitive symptoms, defined as fatigue, headache, loss of taste/smell, brain fog, confusion, concentration/memory/word finding difficulty, and/or change in speech present at 1-month and persisting for 6-months following acute SARS-CoV2 infection.

Cancer-related information behavior among Black and Hispanic populations in an NCI-designated comprehensive cancer center catchment.

Objective: This study aims to better understand health behaviors, particularly health information seeking, and how this impacts cancer care within underserved minority populations in a specific catchment area in Florida.

Methods: We conducted an analysis of survey data from a 2019 community health survey conducted by the Moffit Cancer Center (MCC). We utilized the Comprehensive Model of Information Seeking (CMIS) as a framework and performed structural equation modeling (SEM) and related statistical analyses.

Design and Statistical Innovations in a Platform Trial for Amyotrophic Lateral Sclerosis.

Platform trials allow efficient evaluation of multiple interventions for a specific disease. The HEALEY ALS Platform Trial is testing multiple investigational products in parallel and sequentially in persons with amyotrophic lateral sclerosis (ALS) with the goal of rapidly identifying novel treatments to slow disease progression. Platform trials have considerable operational and statistical efficiencies compared with typical randomized controlled trials due to their use of shared infrastructure and shared control data.

Functional Clustering of Metabolically Related Genes Is Conserved across .

Transcriptional regulation is vital for organismal survival, with many layers and mechanisms collaborating to balance gene expression. One layer of this regulation is genome organization, specifically the clustering of functionally related, co-expressed genes along the chromosomes. Spatial organization allows for position effects to stabilize RNA expression and balance transcription, which can be advantageous for a number of reasons, including reductions in stochastic influences between the gene products.

Supporting Medical Education Innovation: Evaluation of a Grants Initiative.

Problem: Medical education must evolve to meet the changing needs of patients and communities. Innovation is a critical component of that evolution. As medical educators pursue innovative curricula, assessments, and evaluation techniques, the impact of innovations may be limited by minimal funding.

DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians.

The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading causes of death in Duchenne) have not been associated with Duchenne muscular dystrophy mutation type or location and vary within families. Therefore, identifying predictors for phenotype severity beyond frameshift prediction is important clinically.

A systematic review and meta-analysis of the prevalence of poor sleep in inflammatory bowel disease.

Study Objectives: Poor sleep-in people with inflammatory bowel disease (IBD) has been associated with worse quality of life, along with anxiety, depression, and fatigue. This meta-analysis aimed to determine the pooled prevalence of poor sleep-in IBD.

Methods: Electronic databases were searched for publications from inception to November 1st 2021.

Validation of three-dimensional facial imaging captured with smartphone-based photogrammetry application in comparison to stereophotogrammetry system.

Statement Of Problem: The development of facial scanners has improved capabilities to create three-dimensional (3D) virtual patients for accurate facial and smile analysis. However, most of these scanners are expensive, stationary and involve a significant clinical footprint. The use of the Apple iPhone and its integrated "TrueDepth" near-infrared (NIR) scanner combined with an image processing application (app) offers the potential to capture and analyze the unique 3D nature of the face; the accuracy and reliability of which are yet to be established for use in clinical dentistry.

Update on Pediatric Mild Traumatic Brain Injury in Rural and Underserved Regions: A Global Perspective.

Background: Mild traumatic brain injury (MTBI) causes morbidity and disability worldwide. Pediatric patients are uniquely vulnerable due to developmental and psychosocial factors. Reduced healthcare access in rural/underserved communities impair management and outcome.

Algorithm for biological second messenger analysis with dynamic regions of interest.

Physiological function is regulated through cellular communication that is facilitated by multiple signaling molecules such as second messengers. Analysis of signal dynamics obtained from cell and tissue imaging is difficult because of intricate spatially and temporally distinct signals. Signal analysis tools based on static region of interest analysis may under- or overestimate signals in relation to region of interest size and location.

Radiomic analysis for early differentiation of lung cancer recurrence from fibrosis in patients treated with lung stereotactic ablative radiotherapy.

. The development of radiation-induced fibrosis after stereotactic ablative radiotherapy (SABR) can obscure follow-up images and delay detection of a local recurrence in early-stage lung cancer patients. The objective of this study was to develop a radiomics model for computer-assisted detection of local recurrence and fibrosis for an earlier timepoint (<1 year) after the SABR treatment.

Risk stratification of HPV-positive results using extended genotyping and cytology: Data from the baseline phase of the Onclarity trial.

Background: Optimizing the balance between colposcopy referrals and the detection of high-grade cervical intraepithelial neoplasia (CIN) during cervical cancer screening requires robust triage strategies. We evaluated the performance of extended HPV genotyping (xGT), in combination with cytology triage, and compared it to previously published performance data for high-grade CIN detection by HPV16/18 primary screening in combination with p16/Ki-67 dual staining (DS).

Methods And Materials: The baseline phase of the Onclarity trial enrolled 33,858 individuals, yielding 2978 HPV-positive participants.

Cardiology Care and Loss to Follow-Up Among Adults With Congenital Heart Defects in CH STRONG.

Many of the estimated 1.4 million adults with congenital heart defects (CHDs) in the United States are lost to follow-up (LTF) despite recommendations for ongoing cardiology care. Using 2016 to 2019 CH STRONG (Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG) data, we describe cardiac care among community-based adults with CHD, born in 1980 to 1997, identified through state birth defects registries.

15-year biochemical failure, metastasis, salvage therapy, and cancer-specific and overall survival rates in men treated with robotic radical prostatectomy for PSA-screen detected prostate cancer.

Background: An informed decision regarding a treatment option requires data on its long-term efficacy and side-effect profile. While the side-effects of robotic radical prostatectomy have been well-quantified, the data on its long-term efficacy are lacking. We here provide 15-year oncological outcomes of clinically-localized prostate cancer (CLPCa) patients treated with robot-assisted laparoscopic prostatectomy (RALP).

Contemporary pregnancy outcomes for women with moderate and severe congenital heart disease.

Background: Women with congenital heart disease (CHD) are surviving into adulthood, with more undergoing pregnancy.

Methods: Retrospective review of the Vizient database from 2017-2019 for women 15-44 years old with moderate, severe or no CHD and vaginal delivery or caesarean section. Demographics, hospital outcomes and costs were compared.

Reappraisal capacity is unrelated to depressive and anxiety symptoms.

Research suggests affective symptoms are associated with reduced habitual use of reappraisal as an emotion regulation strategy in individuals with mental health problems. Less is known, however, about whether mental health problems are related to reduced reappraisal capacity per se. The current study investigates this question using a film-based emotion regulation task that required participants to use reappraisal to downregulate their emotional response to highly evocative real-life film footage.

Oncohistones and disrupted development in pediatric-type diffuse high-grade glioma.

Recurrent, clonal somatic mutations in histone H3 are molecular hallmarks that distinguish the genetic mechanisms underlying pediatric and adult high-grade glioma (HGG), define biological subgroups of diffuse glioma, and highlight connections between cancer, development, and epigenetics. These oncogenic mutations in histones, now termed "oncohistones", were discovered through genome-wide sequencing of pediatric diffuse high-grade glioma. Up to 80% of diffuse midline glioma (DMG), including diffuse intrinsic pontine glioma (DIPG) and diffuse glioma arising in other midline structures including thalamus or spinal cord, contain histone H3 lysine 27 to methionine (K27M) mutations or, rarely, other alterations that result in a depletion of H3K27me3 similar to that induced by H3 K27M.

Reconstruction of Raman Spectra of Biochemical Mixtures Using Group and Basis Restricted Non-Negative Matrix Factorization.

Raman spectroscopy is a useful tool for obtaining biochemical information from biological samples. However, interpretation of Raman spectroscopy data in order to draw meaningful conclusions related to the biochemical make up of cells and tissues is often difficult and could be misleading if care is not taken in the deconstruction of the spectral data. Our group has previously demonstrated the implementation of a group- and basis-restricted non-negative matrix factorization (GBR-NMF) framework as an alternative to more widely used dimensionality reduction techniques such as principal component analysis (PCA) for the deconstruction of Raman spectroscopy data as related to radiation response monitoring in both cellular and tissue data.

Burden of Typhoid and Paratyphoid Fever in India.

Background: In 2017, more than half the cases of typhoid fever worldwide were projected to have occurred in India. In the absence of contemporary population-based data, it is unclear whether declining trends of hospitalization for typhoid in India reflect increased antibiotic treatment or a true reduction in infection.

Methods: From 2017 through 2020, we conducted weekly surveillance for acute febrile illness and measured the incidence of typhoid fever (as confirmed on blood culture) in a prospective cohort of children between the ages of 6 months and 14 years at three urban sites and one rural site in India.