Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program.

Genetic counselors (GCs) face unique challenges in the acute care setting. Acute care environments-such as neonatal and pediatric intensive care units-are characterized by urgency, complexity, and rapid decision making. These settings require GCs to navigate a delicate balance between addressing the immediate clinical needs of patients and providing comprehensive genetic information to families, while demanding adaptation of existing skills for practice.

Children's rights and wrongs: respect, equality and dignity.

Despite the almost global ratification of the United Nations Convention on the Rights of the Child, Ireland and the international community fall short on the full realisation of these standards. Among the many pervasive and enduring failures are the persistence of child poverty, inadequate access to healthcare services, inequality of access to education, and continued discrimination based on race, ethnicity, gender, and disability. A highly relevant concern in today's world is the increasing exposure of children to armed conflict and our inability to effect change.

Analysis of public perceptions on the use of artificial intelligence in genomic medicine.

Purpose: Next generation sequencing has led to the creation of large pools of genomic data with analysis rather than data generation now the limiting factor. Artificial intelligence (AI) may be required to optimize the benefits of these data, but little is known about how the public feels about the use of AI in genomics.

Methods: We conducted focus groups with members of the Australian public.

Importance of variables from different time frames for predicting self-harm using health system data.

Objective: Self-harm risk prediction models developed using health system data (electronic health records and insurance claims information) often use patient information from up to several years prior to the index visit when the prediction is made. Measurements from some time periods may not be available for all patients. Using the framework of algorithm-agnostic variable importance, we study the predictive potential of variables corresponding to different time horizons prior to the index visit and demonstrate the application of variable importance techniques in the biomedical informatics setting.

Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes.

Purpose: Families of children in pediatric acute care who are offered ultrarapid genomic sequencing are making complex decisions during a high-stress period. To reduce complexity for families and clinicians, we offered genomic screening for the child and parents after the completion of diagnostic testing. We evaluated uptake, understanding, and service delivery preferences.

Tele-collaborative outreach to rural patients with chronic pain: pragmatic effectiveness trial protocol for the CORPs study.

Background: Despite the increased availability of evidence-based treatments for chronic pain, many patients in rural areas experience poor access to services. Patients receiving care through the VA may also need to navigate multiple systems of care.

Objective: To examine the effectiveness of a remotely delivered collaborative care intervention for improving pain interference among veterans with high-impact chronic pain living in rural areas.

Autism Diagnosis Among US Children and Adults, 2011-2022.

Importance: An improved understanding of autism spectrum disorder (ASD) prevalence over time and across the lifespan can inform health care service delivery for the growing population of autistic children and adults.

Objective: To describe trends in the prevalence of ASD diagnoses using electronic records data from a large network of health systems in the US.

Design, Setting, And Participants: This cross-sectional study examined annual diagnosis rates in health records of patients in US health systems from January 1, 2011, to December 31, 2022.

Importance of variables from different time frames for predicting self-harm using health system data.

Objective: Self-harm risk prediction models developed using health system data (electronic health records and insurance claims information) often use patient information from up to several years prior to the index visit when the prediction is made. Measurements from some time periods may not be available for all patients. Using the framework of algorithm-agnostic variable importance, we study the predictive potential of variables corresponding to different time horizons prior to the index visit and demonstrate the application of variable importance techniques in the biomedical informatics setting.

General practitioner referrals to a child and adolescent mental health service (CAMHS): pre and post COVID-19 pandemic.

Objectives: To compare the characteristics of GP referrals to CAMHS prior to and over the entire pandemic.

Methods: All accepted referrals to a Dublin-based CAMHS between January 1, 2019, and June 30, 2023, were examined. Referral letters were anonymised in batches, and information was extracted directly onto a designated proforma.

Use of Codes for Adverse Social Determinants of Health Across Health Systems.

Objective: This study investigated codes for adverse social determinants of health (SDoH) across 12 U.S. health systems by using data from multiple health care encounter types for diverse patients covered by multiple payers.

Working Together to Promote Kidney Health.

The American Nephrology Nurses Association (ANNA) and American Society of Nephrology (ASN) have joined forces with the goal of advancing improvements in kidney care through transformative change. Through the integration of expertise, resources, and networks from both organizations, these collaborations have the potential to improve patient outcomes, advance clinical practice, and shape policy initiatives. In this article, we describe our focus on three areas: strengthening the nephrology and nephrology nursing workforce, championing health care equity, and advocating for kidney health.

Morel-Lavallée lesion diagnosed with point-of-care ultrasound.

The Morel-Lavallée lesion is an internal degloving injury seen after a traumatic force. These lesions are frequently missed on initial presentation, leading to a delay in diagnosis and increased morbidity. We present a case of a 52-year-old male who suffered an injury to his right thigh and was ultimately diagnosed with a Morel-Lavallée lesion after the third emergency department visit.

A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability.

Purpose: To develop and evaluate a scalable national program to build confidence, competence and capability in the use of rapid genomic testing (rGT) in the acute pediatric setting.

Methods: We used theory-informed approaches to design a modular, adaptive program of blended learning aimed at diverse professional groups involved in acute pediatric care. The program comprised 4 online learning modules and an online workshop and was centered on case-based learning.

Acute Nephrology Nurse Managers and Medical Directors: The Roles and Relationships to Produce Quality in the Unit.

Nurse managers and medical directors play integral roles in ensuring the delivery of high-quality care. Nurse managers oversee day-to-day operations, coordinating staffing, patient care, and resource allocation. They are responsible for fostering a supportive environment for nursing staff while upholding standards of excellence in patient care.

Variation in completeness of coding external cause of injuries under ICD-10-CM.

Introduction: Information about causes of injury is key for injury prevention efforts. Historically, cause-of-injury coding in clinical practice has been incomplete due to the need for extra diagnosis codes in the International Classification of Diseases-Ninth Revision-Clinical Modification (ICD-9-CM) coding. The transition to ICD-10-CM and increased use of clinical support software for diagnosis coding is expected to improve completeness of cause-of-injury coding.

Cognitive Behavioral Program for the Prevention of Depression in At-Risk Adolescents: Isolating the Effects of Dose.

The current study estimated effects of intervention dose (attendance) of a cognitive behavioral prevention (CBP) program on depression-free days (DFD) in adolescent offspring of parents with a history of depression. As part of secondary analyses of a multi-site randomized controlled trial, we analyzed the complete intention-to-treat sample of 316 at-risk adolescents ages 13-17. Youth were randomly assigned to the CBP program plus usual care (n=159) or to usual care alone (n=157).

Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.

Reanalyzing stored genomic data over time is highly effective in increasing diagnostic yield in rare disease. Automation holds the promise of delivering the benefits of reanalysis at scale. Our study aimed to understand current reanalysis practices among Australian clinical and laboratory genetics services and explore attitudes towards large-scale automated re-analysis.

Direct Transition from Hospital to Home Dialysis: Revolutionizing Home Dialysis Training.

A large portion of new patients with end stage kidney disease initiates dialysis in the acute setting and continue with outpatient dialysis at in-center facilities. To increase home dialysis adoption, programs have successfully operationalized Urgent Start peritoneal dialysis to have patients avoid in-center dialysis and move straight to home. However, Urgent Start home hemodialysis (HHD) has not been a realistic option for providers or patients due to complex machines and long training times (greater than four weeks).

Impact of trauma exposure and depression comorbidity on response to transdiagnostic behavioral therapy for pediatric anxiety and depression.

By adolescence, two-thirds of youth report exposure to at least one traumatic event, yet the impact of trauma history is not routinely considered when evaluating the effect of psychotherapeutic interventions. Trauma may be a particularly important moderator of the effects of transdiagnostic therapies for emotional disorders, as trauma exposure is associated with risk for the development of comorbid depression and anxiety. The current study examined the history of trauma exposure and the presence of clinically significant depression as moderators of treatment outcomes in the Brief Behavioral Therapy (BBT) trial, the largest study of transdiagnostic psychotherapy for youth.

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.

Introduction: Newborn bloodspot screening (NBS) is a highly successful public health programme that uses biochemical and other assays to screen for severe but treatable childhood-onset conditions. Introducing genomic sequencing into NBS programmes increases the range of detectable conditions but raises practical and ethical issues. Evidence from prospectively ascertained cohorts is required to guide policy and future implementation.