Survey and perspective on verification, validation, and uncertainty quantification of digital twins for precision medicine.

Digital twins in precision medicine provide tailored health recommendations by simulating patient-specific trajectories and interventions. We examine the critical role of Verification, Validation, and Uncertainty Quantification (VVUQ) for digital twins in ensuring safety and efficacy, with examples in cardiology and oncology. We highlight challenges and opportunities for developing personalized trial methodologies, validation metrics, and standardizing VVUQ processes.

Impact of alternative diagnostic labels for melanoma in situ on management choices and psychological outcomes: protocol for an online randomised study.

Introduction: A diagnosis of melanoma in situ presents negligible risk to a person's lifespan or physical well-being, but existing terminology makes it difficult for patients to distinguish these from higher risk invasive melanomas. This study aims to explore whether using an alternative label for melanoma in situ may influence patients' management choices and anxiety levels.

Methods And Analysis: This study is a between-subjects randomised online experiment, using hypothetical scenarios.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

Alignment of Air Pollution Exposure Inequality Metrics with Environmental Justice and Equity Goals in the United States.

A growing literature within the field of air pollution exposure assessment addresses the issue of environmental justice. Leveraging the increasing availability of exposure datasets with broad spatial coverage and high spatial resolution, a number of works have assessed inequalities in exposure across racial/ethnic and other socioeconomic groupings. However, environmental justice research presents the additional need to evaluate exposure inequity-inequality that is systematic, unfair, and avoidable-which may be framed in several ways.

Evaluating a Child Presenting with Symptoms Concerning for Sjögren Disease: A Clinical Tool for Practice.

Background/purpose: Childhood Sjögren disease (cSjD) is a rare disease. There are no widely accepted diagnostic or classification criteria for cSjD. To fill this gap, members from CARRA Sjogren Workgroup and the International cSjD Workgroup created a clinical diagnostic algorithm.

Utilization and perceived usefulness of monitoring technology for family caregivers of people living with Alzheimer's disease and related dementias.

Background: Caregivers of people living with dementia (PLWD) often experience burden based on their care recipients' symptoms of wandering, disorientation, and agitation.

Objective: To examine the utilization and perceived value of technology-based solutions for caregiving among caregivers of PLWD.

Methods: In collaboration with three Texas sites, PLWD and family caregiver dyads were recruited from clinical and community sites to assess the feasibility of a caregiving technology.

Physical Activity Monitoring in Children in the 1-Year After 3 or More Days of Invasive Ventilation: Feasibility of Using Accelerometers.

Objectives: To measure physical activity in a cohort of children who survived greater than or equal to 3 days of invasive ventilation.

Design: Prospective cohort study (2018-2021).

Setting: Quaternary children's hospital PICU.

Ayahuasca enhances the formation of hippocampal-dependent episodic memory without impacting false memory susceptibility in experienced ayahuasca users: An observational study.

Background: Ayahuasca is an Amazonian brew with 5-HT-dependent psychedelic effects taken by religious groups globally. Recently, psychedelics have been shown to impair the formation of recollections (hippocampal-dependent episodic memory for specific details) and potentially distort memory while remembering. However, psychedelics spare or enhance the formation of familiarity-based memory (cortical-dependent feeling of knowing that a stimulus has been processed).

Improving Early Detection of Cognitive Impairment in Older Adults in Primary Care Clinics: Recommendations From an Interdisciplinary Geriatrics Summit.

As the population ages, the prevalence of cognitive impairment due to neurodegenerative diseases such as Alzheimer disease (AD) is expected to double in the United States to nearly 14 million over the next 40 years. AD and related dementias (ADRD) are a leading cause of morbidity and mortality and among the costliest to society. Although emerging biomedical interventions for ADRD focus on early stages and are currently limited to AD, care management can benefit patients with ADRD across the disease course.

Speech perception and language comprehension in primary progressive aphasia.

Primary progressive aphasia (PPA) is a neurodegenerative disorder characterized by progressive loss of speech and language. Although speech perception and language comprehension deficits are observed in individuals with PPA, these deficits have been understudied relative to production deficits. Recent work has examined receptive language processing at sublexical, lexical, and semantic levels in PPA; however, systematic investigation of these levels of processing within a single PPA cohort is lacking.

Facilitators and barriers to survivorship support access: a qualitative study of rectal cancer survivors' experiences in Texas.

Objective: This qualitative study aimed to analyse rectal cancer survivors' lived experiences to identify facilitators and barriers to support access.

Design: We conducted one-on-one semi-structured interviews and employed thematic analysis to identify key themes and insights.

Setting/participants: Participants included eight rectal cancer survivors and three caregivers recruited at Texas Colorectal Collaborative sites.

Navigating life with single-ventricle CHD: psychosocial needs across adulthood.

Objective: The population of adults with single-ventricle congenital heart disease (CHD) is growing. This study explores their lived experiences through an adult developmental psychology framework.

Methods: Individuals aged 18 and older with single-ventricle CHD participated in Experience Group sessions and 1:1 interviews.

Cells and signals of the leukemic microenvironment that support progression of T-cell acute lymphoblastic leukemia (T-ALL).

Current intensified chemotherapy regimens have significantly increased survival rates for pediatric patients with T-cell acute lymphoblastic leukemia (T-ALL), but these treatments can result in serious adverse effects; furthermore, patients who are resistant to chemotherapy or who relapse have inferior outcomes, together highlighting the need for improved therapeutic strategies. Despite recent advances in stratifying T-ALL into molecular subtypes with distinct driver mutations, efforts to target the tumor-intrinsic genomic alterations critical for T-ALL progression have yet to translate into more effective and less toxic therapies. Ample evidence now indicates that extrinsic factors in the leukemic microenvironment are critical for T-ALL growth, infiltration, and therapeutic resistance.

How Psychedelics Modulate Multiple Memory Mechanisms in Posttraumatic Stress Disorder.

Posttraumatic stress disorder (PTSD) is a psychiatric disorder with defining abnormalities in memory, and psychedelics may be promising candidates for the treatment of PTSD given their effects on multiple memory systems. Most PTSD and psychedelic research has investigated memory with fear conditioning and extinction. While fruitful, conditioning and extinction provide a limited model of the complexity of PTSD and phenomenology of psychedelics, thereby limiting the refinement of therapies.

Linkage between Fuz and Gpr161 genes regulates sonic hedgehog signaling during mouse neural tube development.

Sonic hedgehog (Shh) signaling regulates embryonic morphogenesis utilizing the primary cilium, the cell's antenna, which acts as a signaling hub. Fuz, an effector of planar cell polarity signaling, regulates Shh signaling by facilitating cilia formation, and the G protein-coupled receptor 161 (Gpr161) is a negative regulator of Shh signaling. The range of phenotypic malformations observed in mice bearing mutations in either of the genes encoding these proteins is similar; however, their functional relationship has not been previously explored.

RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.

Williams syndrome (WS) is a rare multisystemic disorder caused by recurrent microdeletions on 7q11.23, characterized by intellectual disability, distinctive craniofacial and dental features, and cardiovascular problems. Previous studies have explored the roles of individual genes within these microdeletions in contributing to WS phenotypes.