Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society.

Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world and is associated with cognitive and medical challenges. Through research, the T21 Research Society (T21RS), established in 2014, unites a worldwide community dedicated to understanding the impact of T21 on biological systems and improving the quality of life of people with DS across the lifespan. T21RS hosts an international conference every two years to support collaboration, dissemination, and information sharing for this goal.

Functional and Cosmetic Considerations in Saddle Nose Deformity Repair.

The saddle nose deformity is associated with dorsal collapse and can have both function and cosmetic problems. The saddle nose can cause nasal obstruction by narrowing the nasal cavities, eliciting dynamic internal and external nasal valve narrowing, and abnormally widening the internal and external nasal valves altering airflow dynamics, sinonasal passageways, and olfaction. The saddle nose is challenging to treat due to skin contracture, lack of donor tissue, and difficulties in esthetic integration.

Rhinoconjunctivitis Symptoms in Children and Adolescents with Asthma: A Longitudinal Clustering Analysis.

Background: Rhinoconjunctivitis phenotypes are conventionally described based on symptom severity, duration and seasonality and aeroallergen sensitization. It is not known whether these phenotypes fully reflect the patterns of symptoms seen at a population level.

Objective: To identify phenotypes of rhinoconjunctivitis based on symptom intensity and seasonality using an unbiased approach and to compare their characteristics.

A prospective, multicenter analysis of the integrated 31-gene expression profile test for sentinel lymph node biopsy (i31-GEP for SLNB) test demonstrates reduced number of unnecessary SLNBs in patients with cutaneous melanoma.

Background: National Comprehensive Cancer Network guidelines recommend sentinel lymph node biopsy (SLNB) for patients with > 10% risk of positivity, consider SLNB with 5-10% risk, and foregoing with < 5% risk. The integrated 31-gene expression profile (i31-GEP) algorithm combines the 31-GEP with clinicopathologic variables, estimating SLN positivity risk.

Methods: The i31-GEP SLNB risk prediction accuracy was assessed in patients with T1-T2 tumors enrolled in the prospective, multicenter DECIDE study (n = 322).

Factors associated with treatment response in chronic nonbacterial osteomyelitis at a single center: a retrospective cohort study.

Background: NSAIDs are commonly used as first line therapy in chronic nonbacterial osteomyelitis (CNO) but are not effective for all patients. The objective of this study was to identify clinical variables associated with NSAID monotherapy response versus requiring second-line medication in a single-center cohort of patients with CNO.

Methods: The charts of children with CNO who attended a CNO clinic at a quaternary care center between 1/1/05 and 7/31/21 were retrospectively reviewed.

Patient Characteristics, Diagnoses, and Management in a Combined Uveitis-Rheumatology Clinic.

Introduction: Combined uveitis-rheumatology clinics (combined clinics) are a relatively recent clinical care model. Here we report the demographics, ocular and systemic disease characteristics, and medications utilized in patients seen in a combined clinic at a tertiary care hospital in the USA.

Methods: Medical records were reviewed of patients seen at the Combined Clinic at the University of Colorado Hospital between January 1, 2016 and November 1, 2023.

Evaluation of Peer Review of Percutaneous Coronary Intervention Operator Performance.

Background: Case-based peer review of percutaneous coronary intervention (PCI) is used by many hospitals for quality improvement and to make decisions regarding physician competency. However, there are no studies testing the reliability or validity of peer review for PCI performance evaluation.

Methods: We recruited interventional cardiologists from 12 Veterans Affairs Health System facilities throughout the United States to provide PCI cases for review.

Feasibility of at-Home Sleep Monitoring in Adolescents with and without Concussion.

Background: Poor sleep is associated with longer recovery following adolescent concussion, making the longitudinal assessment of sleep important for monitoring recovery and identifying sleep disruptions. An important consideration for successful monitoring of sleep following concussion is the feasibility and adherence of a given sleep monitoring tool when used in an at-home environment. Understanding the usability of different sleep monitoring tools is essential for determining their applicability for longitudinal assessment in an ecologically valid environment.

Artificial Intelligence Assistance in Point-of-Care Ultrasound Skill Retention for Novice Users in Space Medicine Scenarios.

Introduction: As humanity progresses further into space, astronauts must be increasingly independent from mission control, especially in high-consequence medical scenarios. The high-utility and low-mass nature of point-of-care ultrasound (POCUS) makes this imaging modality ideal for spaceflight mission deployment. However, POCUS operator skill degrades over time, presenting an operational barrier to continuous, effective use.

A stromal inflammasome Ras safeguard against Myc-driven lymphomagenesis.

The inflammasome plays multifaceted roles in cancer, but less is known about its function during premalignancy upon initial cell transformation. We report a homeostatic function of the inflammasome in suppressing malignant transformation through Ras inhibition. We identified increased hematopoietic stem cell (HSC) proliferation within the bone marrow of inflammasome-deficient mice.

Intraosseous and intravenous vascular access during adult cardiac arrest: A systematic review and meta-analysis.

Objective: To summarise evidence on the clinical effectiveness of initial vascular attempts via the intraosseous route compared to the intravenous route in adult cardiac arrest.

Methods: We searched MEDLINE and Embase (OVID platform), the Cochrane library, and the International Clinical Trials Registry Platform from inception to September 4th 2024 for randomised clinical trials comparing the intraosseous route with the intravenous route in adult cardiac arrest. Our primary outcome was 30-day survival.

Supporting teams with designing for dissemination and sustainability: the design, development, and usability of a digital interactive platform.

Background: Designing for Dissemination and Sustainability (D4DS) principles and methods can support the development of research products (interventions, tools, findings) that match well with the needs and context of the intended audience and setting. D4DS principles and methods are not well-known or used during clinical and public health research; research teams would benefit from applying D4DS. This paper presents the development of a new digital platform for research teams to learn and apply a D4DS process to their work.

Learned phenotypes emerge during social stress modifying hippocampal orexin receptor gene expression.

Psychological distress, including anxiety or mood disorders, emanates from the onset of chronic/unpredictable stressful events. Symptoms in the form of maladaptive behaviors are learned and difficult to treat. While the origin of stress-induced disorders seems to be where learning and stress intersect, this relationship and molecular pathways involved remain largely unresolved.

Donor derived cell free DNA in lung transplant recipients rises in setting of allograft instability.

Purpose: The purpose of this study was to evaluate the correlation between longitudinal monitoring of donor-derived cell free DNA (dd-cfDNA) in lung transplant recipients and a "gold standard" of existing tools (pulmonary function testing, radiographic imaging, laboratory and bronchoscopy data, clinical judgment) to assess allograft function.

Methods: 24 consecutive transplant recipients were prospectively enrolled in this study measuring dd-cfDNA levels monthly in the first year after bilateral lung transplant. Blinded clinical adjudications were performed at the same timepoints to categorize allograft function as stable (FEV1 within 10% of prior value or when compared to best two averaged post-transplant values) or unstable.

The role of pediatric subspecialists in adolescent contraceptive care: knowledge, attitudes, and barriers.

Study Objective: Adolescents and young adults (AYA) with chronic medical conditions (CMC) have similar sexual behaviors to their healthy peers but are less likely to use contraception. Provision of CMC-specific sexual and reproductive health (SRH) care within pediatric subspecialty clinics may improve access for this population, although system and provider level barriers exist. The purpose of this cross-sectional study was to assess the attitudes, practices, and knowledge of SRH among providers in a variety of pediatric subspecialities.

An alternative multidrug regimen for multibacillary Hansen's disease: a case report.

Background: Leprosy (Hansen's disease) is an infectious disease most common in resource-limited countries caused by the acid-fast bacilli Mycobacterium leprae and Mycobacterium lepromatosis that frequently affects the skin and peripheral nerves. Prompt diagnosis and treatment with multidrug therapy is crucial to reduce disease transmission and sequelae, which include nerve function impairment, ocular injury, and stigmatizing physical deformities. Traditional treatment of multibacillary leprosy consists of 12-24 months of multidrug therapy with dapsone, rifampin, and clofazimine.

Tramadol as a fentanyl adulterant: Prevalence and management in a ToxIC Fentalog study prospective cohort.

Background: Tramadol is an adulterant of illicit opioids. As it is a serotonin-norepinephrine reuptake inhibitor as well as a μ-opioid agonist, tramadol adulteration may worsen overdose signs and symptoms or affect the amount of naloxone patients receive.

Methods: This is a multicenter, prospective cohort of adult patients with suspected opioid overdoses who presented to one of eight United States emergency departments and were included in the Toxicology Investigators Consortium's Fentalog Study.

Absenteeism and Productivity Loss Due to Influenza or Influenza-like Illness in Adults in Europe and North America.

Healthy working-age adults are susceptible to illness or caregiving requirements resulting from annual seasonal influenza, leading to considerable societal and economic impacts. The objective of this targeted narrative review is to understand the societal burden of influenza in terms of absenteeism and productivity loss, based on the current literature. This review includes 48 studies on the impact of influenza and influenza-like illness (ILI) and reports on the effect of influenza vaccination, age, disease severity, caring for others, comorbidities, and antiviral prophylaxis on absenteeism and productivity loss due to influenza/ILI, focusing on publications originating from Canada, Europe, and the United States.

Individual-, Hospital-, and Community-Level Factors Associated with Sudden Unexpected Infant Death Among Infants Born Preterm in 5 US States.

Objective: To investigate individual-, hospital-, and community-level factors associated with sudden unexpected infant death (SUID) among infants born preterm.

Study Design: The following linked dataset from 5 states (California, Michigan, Oregon, Pennsylvania, and South Carolina) from 2005 through 2020 was used: (1) infant birth and death certificates; (2) maternal and infant birth hospitalization discharge records; (3) birthing hospital data from the American Hospital Association; and (4) community-level data from the Social Vulnerability Index (SVI).) Multivariable models were used to assess the independent association between these multilevel factors and SUID, adjusting for several maternal and infant characteristics.