Consumer-oriented (patient and family) outcomes from nursing in genomics: a scoping review of the literature (2012-2022).

Introduction: Genomics is a lifespan competency that is important for improving health outcomes for individuals, families, and communities. Nurses play a key role in genomic healthcare and realizing the potential of the genomic era.

Methods: We aimed to chart the current state of genomics in nursing by conducting a systematic scoping review of the literature in four databases (2012-2022).

Latent profiles and predictors of barriers to care in Swiss children and adolescents with rare diseases.

Objective: Children and adolescents with rare diseases face significant barriers when accessing healthcare. We aimed to assess and predict these barriers and investigate associations with health-related quality of life (HRQoL).

Method: We conducted a cross-sectional survey of Swiss parents (N = 189) of children with rare diseases including the Barriers to Care Questionnaire (BCQ), containing six barriers and the Pediatric Quality of Life Inventory (PedsQL).

Integrating genomics and precision health knowledge into practice: A guide for nurse practitioners.

Nurse practitioners (NPs) are the fastest growing group of health care providers, with an increase of 8.5% over the past year and anticipated growth of more than 40% by 2031. Improving NPs' knowledge of how genes influence health enables them to assess, diagnose, and manage patients in all states of health in a safe, efficient, and competent manner.

Prognostic significance of paramagnetic rim lesions in multiple sclerosis: A systematic review.

The diagnostic potential of paramagnetic rim lesions (PRLs) has been previously established; however, the prognostic significance of these lesions has not previously been consistently described. This study aimed to establish the prognostic role of PRLs in MS with respect to the Expanded Disability Status Scale (EDSS) and rates of disability progression. Databases of PubMed, EMBASE, Scopus and reference lists of selected articles were searched up to 29/04/2023.

Practice Analysis: Developing a Content Outline for the Child Abuse Pediatrics Certification Exam.

The examination by which physicians achieve board certification in CAP should reflect the knowledge and skills required of the modern practitioner. The American Board of Pediatrics (ABP) assembled a 12-member volunteer panel of practicing child abuse pediatricians to conduct a practice analysis. In the first phase of the project, the panel identified and documented the practice domains, tasks, knowledge, and skills required for clinical practice.

"Identity theft" in : impact of positive genetic test results and risk-reducing interventions.

Individuals harboring breast cancer gene 1/2 () pathogenic variants are at increased lifetime risk for developing cancer. Learning one's carrier status is a watershed moment that can result in psychological distress, anxiety, and depression, as well as feelings of vulnerability and stigma. However, emotional and coping responses to learning one's carrier status and after risk-reducing interventions (i.

SCANPatient: study protocol for a multi-centre, batched, stepped wedge, comparative effectiveness, randomised clinical trial of synoptic reporting of computerised tomography (CT) scans assessing cancers of the pancreas.

Background: Complete surgical removal of pancreatic ductal adenocarcinoma (PDAC) is central to all curative treatment approaches for this aggressive disease, yet this is only possible in patients technically amenable to resection. Hence, an accurate assessment of whether patients are suitable for surgery is of paramount importance. The SCANPatient trial aims to test whether implementing a structured synoptic radiological report results in increased institutional accuracy in defining surgical resectability of non-metastatic PDAC.

Intersectionality, Genetic Testing, and Intrafamilial Communication of Risk: A Qualitative Study.

Significant health disparities exist in relation to pathogenic variants in . This study aimed to better understand the barriers and facilitators to genetic testing and intrafamilial communication of risk in racially and ethnically diverse individuals. We conducted qualitative interviews with non-Hispanic White ( = 11) and Black, Indigenous, People of Color (BIPOC) individuals ( = 14) who underwent testing for pathogenic variants.

Psychometric Evaluation of the German Version of the Perceived Access to Healthcare Questionnaire in a Sample of Individuals with Rare Chronic Diseases.

Access to healthcare is multifaceted and poses significant challenges for individuals with chronic and rare diseases (RDs). This study aimed to conduct a psychometric evaluation of the German version of the Perception of Access to Healthcare Questionnaire (PAHQ) among individuals with RDs. We conducted an evaluation of the PAHQ using a sample of 271 adults with an RD diagnosis.

ACCESS: an empirically-based framework developed by the International Nursing CASCADE Consortium to address genomic disparities through the nursing workforce.

Efforts are needed across disciplines to close disparities in genomic healthcare. Nurses are the most numerous trained healthcare professionals worldwide and can play a key role in addressing disparities across the continuum of care. ACCESS is an empirically-based theoretical framework to guide clinical practice in order to ameliorate genomic disparities.

Clinical challenge: When is delayed puberty more than a "late bloomer"?

Delayed puberty is a common reason for adolescents seeking consultation; most have constitutional delay of puberty (CDP) and will initiate puberty spontaneously although later than their peers. However, some individuals will not initiate or progress through puberty (i.e.

Improving portable low-field MRI image quality through image-to-image translation using paired low- and high-field images.

Low-field portable magnetic resonance imaging (MRI) scanners are more accessible, cost-effective, sustainable with lower carbon emissions than superconducting high-field MRI scanners. However, the images produced have relatively poor image quality, lower signal-to-noise ratio, and limited spatial resolution. This study develops and investigates an image-to-image translation deep learning model, LoHiResGAN, to enhance the quality of low-field (64mT) MRI scans and generate synthetic high-field (3T) MRI scans.

Current State of Genomics in Nursing: A Scoping Review of Healthcare Provider Oriented (Clinical and Educational) Outcomes (2012-2022).

In the 20 years since the initial sequencing of the human genome, genomics has become increasingly relevant to nursing. We sought to chart the current state of genomics in nursing by conducting a systematic scoping review of the literature in four databases (2012-2022). The included articles were categorized according to the Cochrane Collaboration outcome domains/sub-domains, and thematic analysis was employed to identify key topical areas to summarize the state of the science.

Simple quantitative planimetric measurement of nigrosome-1 for clinical settings.

Introduction: Loss of MRI hyperintense signal in nigrosome-1 (assessed with susceptibility-weighted imaging) is a biomarker for Parkinson's disease (PD). Current clinical practice involves subjectively rating the appearance of nigrosome-1 which is challenging. The study aimed to test and compare a simple method for quantifying nigrosome-1 with the current subjective rating method.

The Structural Response of the Human Head to a Vertex Impact.

In experimental models of cervical spine trauma caused by near-vertex head-first impact, a surrogate headform may be substituted for the cadaveric head. To inform headform design and to verify that such substitution is valid, the force-deformation response of the human head with boundary conditions relevant to cervical spine head-first impact models is required. There are currently no biomechanics data that characterize the force-deformation response of the isolated head supported at the occiput and compressed at the vertex by a flat impactor.

Racial and Ethnic Disparities in Genomic Healthcare Utilization, Patient Activation, and Intrafamilial Communication of Risk among Females Tested for Variants: A Mixed Methods Study.

This study aimed to gain a deeper understanding of genomic healthcare utilization, patient activation, and intrafamilial risk communication among racially and ethnically diverse individuals tested for variants. We employed an explanatory, sequential, mixed-methods study guided by the Theory of Planned Behavior. Participants completed an online survey, including sociodemographic, medical history, and several validated instruments.

Glucose variability in 6-12-month-old healthy infants.

Background: Metabolic programming of glucose homeostasis in the first 1,000 days of life may impact lifelong metabolic and cardiovascular health. Continuous glucose monitoring (CGM) devices may help measure the impact of dietary intake on glucose rhythms and metabolism in infants during the complementary feeding period.

Objectives: Demonstrate the feasibility of CGM to measure and quantify glucose variability in response to infant feeding and to evaluate associations between macronutrient meal composition and glucose variability.

Identifying and Addressing Item Bias in the General Pediatrics Certifying Examination.

This article describes a 2-phase process implemented by the American Board of Pediatrics in 2021 to investigate and remove potential bias on its General Pediatrics Certifying Examination at the item (question) level based on gender or race and ethnicity. Phase 1 used a statistical technique known as differential item functioning (DIF) analysis to identify items in which 1 subgroup of the population outperformed another subgroup after controlling for overall knowledge level. Phase 2 involved a review of items flagged for statistical DIF by the American Board of Pediatrics' Bias and Sensitivity Review (BSR) panel, a diverse group of 12 voluntary subject matter experts tasked with identifying language or other characteristics of those items that may have contributed to the observed performance differences.

Patient Assessment Chronic Illness Care (PACIC) and its associations with quality of life among Swiss patients with systemic sclerosis: a mixed methods study.

Background: The Chronic Care Model (CCM) is a longstanding and widely adopted model guiding chronic illness management. Little is known about how CCM elements are implemented in rare disease care or how patients' care experiences relate to health-related quality of life (HRQoL). We engaged patients living with systemic sclerosis (SSc) to assess current care according to the CCM from the patient perspective and their HRQoL.