Breaking the Silence: A Case for Early Intervention in Profound Adolescent Hearing Loss.

Progressive unilateral hearing loss (PUHL) in adolescents is uncommon and presents diagnostic challenges due to its varied etiologies, including infections, ototoxicity, congenital anomalies, and autoimmune conditions, though many cases remain idiopathic. We report a 16-year-old male with a history of COVID-19, dengue at age 14, and recurrent headaches, who developed left-sided hearing loss progressing to profound unilateral deafness. Audiometry confirmed sensorineural hearing loss (SNHL) of 97 dB HL in the left ear and 35 dB HL in the right.

Understanding the role of mothers and other caregivers in the context of infant feeding using the family ecological model.

Background: Despite the high prevalence of early childhood obesity and persistent racial and ethnic disparities, there remains a critical gap in understanding how the broader social-ecological context-including the roles of mothers and other trusted caregivers-shapes infant feeding practices in low-income Latinx families. Non-maternal caregivers can influence infant feeding, growth, and development, potentially impacting chronic health conditions like early onset obesity.

Methods: We conducted a food diary debriefing interview with 42 mothers, followed by mother-caregiver dyadic interviews.

Adapting an Evidence-Based Infant Feeding and Nutrition Program to Promote Healthy Growth and Development in Latinx Families of Low Income.

Objective: To describe the cultural adaptation of an evidence-based early childhood obesity prevention intervention for Latina mothers and nonmaternal caregivers in families of low income who speak diverse languages.

Design: Participatory intervention adaptation methods were used to complete the first and second steps of the cultural adaptation process: (1) gathering information and (2) preliminary intervention adaptations.

Setting: Southern California, US.

Metabolomic evaluation of air pollution-related bone damage and potential mediation in Women's Health Initiative participants.

Ambient air pollution has been associated with bone damage. However, no studies have evaluated the metabolomic response to air pollutants and its potential influence on bone health in postmenopausal women. We analyzed data from Women's Health Initiative (WHI) participants with plasma samples.

The Impact of Social Inequities on Presentation of Juvenile-Onset Systemic Lupus Erythematosus at a Large Tertiary Center.

Objective: The prevalence of juvenile-onset systemic lupus erythematosus (JSLE) differs by race/ethnicity with environmental, genetic, and social factors implicated in disease severity and outcomes. Yet, the role of social determinants of health (SDoH) in disease presentation is not well understood. We hypothesized that in an urban center with a large, diverse catchment area, SDoH influence the severity of JSLE at diagnosis.

Failure to Close: An Unexpected Surgical Complication Reveals OTULIN Haploinsufficiency.

Objective: The aim of this report is to raise awareness of a rare inborn error of immunity (IEI) that can predispose to inflammatory disease and infection risk by describing a patient case.

Methods: We reviewed clinical findings, laboratory and pathology evaluations, and genetic results.

Results: A 13-year-old female patient with a history of prematurity and spastic diplegic cerebral palsy underwent planned orthopedic procedures to correct chronic gait abnormalities.

Mapping cell-cell fusion at single-cell resolution.

Cell-cell fusion is a tightly controlled process in the human body known to be involved in fertilization, placental development, muscle growth, bone remodeling, and viral response. Fusion between cancer cells results first in a whole-genome doubled state, which may be followed by the generation of aneuploidies; these genomic alterations are known drivers of tumor evolution. The role of cell-cell fusion in cancer progression and treatment response has been understudied due to limited experimental systems for tracking and analyzing individual fusion events.

Comorbidities Associated With Different Degrees of Severity in Children and Young People Hospitalized With Acute COVID-19.

In this prospective cohort study with 2326 hospitalized children and young people with coronavirus disease 2019 in Spain and Colombia, 36.4% had comorbidities. Asthma, recurrent wheezing, chronic neurological, cardiac and pulmonary diseases significantly increased the risk of severe outcomes such as death, mechanical ventilation and intensive care unit admission.

Beyond Trial Counts: Considerations for Measuring Play and Engagement During Early Intervention for Autistic Children.

Play is critical to child development. In early childhood, object play evolves from exploratory behavior to complex symbolic play. Engagement during play, particularly joint engagement, is essential for learning and social interaction.

Rooting for survival: how plants tackle a challenging environment through a diversity of root forms and functions.

The current climate crisis has global impacts and will affect the physiology of plants across every continent. Ensuring resilience of our agricultural and natural ecosystems to the environmental stresses imposed by climate change will require molecular insight into the adaptations employed by a diverse array of plants. However, most current studies continue to focus on a limited set of model species or crops.

Identification of population multimorbidity patterns in 3.9 million patients from Bogota in 2018.

Background: Multimorbidity has emerged as a challenge for health systems due to its association with adverse clinical outcomes. Given the limited information available on multimorbidity, particularly in low- and middle-income countries, this study characterizes multimorbidity patterns in the population of Bogotá, Colombia in 2018.

Methods: In a cross-sectional study, we analyzed 16 million medical consultation records from Bogotá reported in the National Service Delivery Records in 2018.

Genomic landscape of early-stage prostate adenocarcinoma in Mexican patients: an exploratory study.

Background: Health disparities have been highlighted among patient with prostate adenocarcinoma (PRAD) due to ethnicity. Mexican men present a more aggressive disease than other patients resulting in less favorable treatment outcome. We aimed to identify the mutational landscape which could help to reduce the health disparities among minority groups and generate the first genomics exploratory study of PRAD in Mexican patients.

Application of a Data Quality Framework to Ductal Carcinoma In Situ Using Electronic Health Record Data From the Research Program.

Purpose: The specific aims of this paper are to (1) develop and operationalize an electronic health record (EHR) data quality framework, (2) apply the dimensions of the framework to the phenotype and treatment pathways of ductal carcinoma in situ (DCIS) using Research Program data, and (3) propose and apply a checklist to evaluate the application of the framework.

Methods: We developed a framework of five data quality dimensions (DQD; completeness, concordance, conformance, plausibility, and temporality). Participants signed a consent and Health Insurance Portability and Accountability Act authorization to share EHR data and responded to demographic questions in the Basics questionnaire.

Concomitant sickle cell disease and systemic lupus erythematosus: A single-center case series.

Sickle cell disease (SCD) and systemic lupus erythematosus (SLE) are two uncommon disorders each characterized by multisystemic manifestations. Individuals with SCD exhibit abnormalities in the complement pathway, which may predispose patients to develop autoimmune disorders such as SLE. As many manifestations of SLE mimic those of SCD, diagnosis and therapeutic management of SLE in a patient with known SCD may be delayed.

Frequency of pharmacogenomic variation and medication exposures among All of Us Participants.

Pharmacogenomics promises improved outcomes through individualized prescribing. However, the lack of diversity in studies impedes clinical translation and equitable application of precision medicine. We evaluated the frequencies of PGx variants, predicted phenotypes, and medication exposures using whole genome sequencing and EHR data from nearly 100k diverse All of Us Research Program participants.

Goals, Barriers, and Facilitators of Caregivers Who Participated in an In-Home Intervention to Improve Food Parenting Practices and Child Diet Quality.

Objective: To explore the goals, barriers, and facilitators set by caregivers of preschool-aged children to improve food parenting practices and household food environments.

Design: Secondary qualitative analysis of collaborative goal sheets completed during in-home and telephone visits as part of a home-based pilot intervention.

Participants: Thirty-three Hispanic/Latinx caregivers, predominantly of low income.

Measuring social determinants of health in the All of Us Research Program.

To accelerate medical breakthroughs, the All of Us Research Program aims to collect data from over one million participants. This report outlines processes used to construct the All of Us Social Determinants of Health (SDOH) survey and presents the psychometric characteristics of SDOH survey measures in All of Us. A consensus process was used to select SDOH measures, prioritizing concepts validated in diverse populations and other national cohort surveys.

Th17/1 and ex-Th17 cells are detected in patients with polyarticular juvenile arthritis and increase following treatment.

Background: A better understanding of the pathogenesis of polyarticular juvenile idiopathic arthritis (polyJIA) is needed to aide in the development of data-driven approaches to guide selection between therapeutic options. One inflammatory pathway of interest is JAK-STAT signaling. STAT3 is a transcription factor critical to the differentiation of inflammatory T helper 17 cells (Th17s).

Unravelling molecular dynamics in living cells: Fluorescent protein biosensors for cell biology.

Genetically encoded, fluorescent protein (FP)-based Förster resonance energy transfer (FRET) biosensors are microscopy imaging tools tailored for the precise monitoring and detection of molecular dynamics within subcellular microenvironments. They are characterised by their ability to provide an outstanding combination of spatial and temporal resolutions in live-cell microscopy. In this review, we begin by tracing back on the historical development of genetically encoded FP labelling for detection in live cells, which lead us to the development of early biosensors and finally to the engineering of single-chain FRET-based biosensors that have become the state-of-the-art today.