Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.

Heterozygous de novo loss of function variants in the motor domain of KIF5C are associated with a neurodevelopmental disorder characterized by infantile-onset epilepsy, frontal cortical dysplasia, and developmental delays including motor and speech impairments. Previously, only three missense variants in KIF5C were known to be pathogenic. We identified an additional six patients with significant developmental delays with heterozygous de novo variants in the KIF5C gene (Glu237Val, Thr93Ile, Thr93Asn, Ser90del, Lys92Arg, and Glu237Lys), of which four variants have not been reported before.

Personalized medicine in the evaluation of Müllerian anomalies: the role of three-dimensional printing technology.

Objective: To present the comprehensive methodology for generating personalized three-dimensional (3D) printed uterine models from 3D ultrasound (US) volumes in individuals diagnosed with Müllerian anomalies and discuss potential applications in the field of reproductive endocrinology and infertility.

Design: Pilot study.

Setting: Single large university-affiliated teaching hospital.

Reducing Blood Draws in Pediatric Patients With Solid Organ Injury Through Protocolized Transcutaneous Hemoglobin Monitoring.

Background: Management of pediatric solid organ injuries continues to evolve, decreasing the need for serial hemoglobin measurements, repeat imaging, and operative intervention. Transcutaneous continuous hemoglobin monitoring (TCHM) has been shown to effectively monitor hemoglobin levels in children with solid organ trauma.

Methods: A 6-year, single-center, retrospective chart review was conducted of pediatric solid organ injury patients aged 30 days to <18 years admitted to a quaternary children's hospital following implementation of a highly protocolized TCHM system.

Error Rates in Race and Ethnicity Designation Across Large Pediatric Health Systems.

Importance: Without knowledge of the degree of misattribution in racial and ethnic designations in data, studies run the risk of missing existing inequities and disparities and identifying others that do not exist. Further, accuracy of racial and ethnic designations is important to clinical care improvement efforts and health outcomes.

Objective: To determine the error rate of racial and ethnic attribution in the electronic medical records (EMRs) across the 3 largest pediatric health systems in Michigan.

Access to clinical genetic services: An evaluation of patient referral characteristics and identifying barriers in Michigan.

The utilization of genetics in medical care has enhanced the utility of precision medicine and hence increased the need for clinical genetic services. These services have reduced the costs and expanded the availability of genetic testing, but their use is limited in certain populations. This study explores the access to clinical genetic services for Michigan patients referred to a genetics clinic on the western side of the state.

Bicuspid Aortic Valve Function and Aortopathy on Presentation and Progression in Children: Does Sex Difference Have Any Implications?

Bicuspid aortic valve (BAV) is the most common congenital heart defect. It can be accompanied by aortic regurgitation or stenosis with aortopathies. Studies in adults showed a sex difference, but there are limited number of reports in the pediatric population.

Preprocedural Anxiety in Adults With Congenital Heart Disease: The PANIC Study.

Background: Preprocedural anxiety may have detrimental effects both cognitively and physiologically.

Objectives: The objective of this study was to determine the association between state (situational) and trait (persistent in everyday life) anxiety and differences between the adult congenital heart disease (ACHD) and acquired heart disease populations.

Methods: The State-Trait Anxiety Inventory and financial stress scale were administered to adults with acquired and CHD at 4 tertiary referral centers in the United States prior to cardiac catheterization.

A Quality Initiative to Prioritize Enteral Feeding in Bronchiolitis.

Introduction: Recent studies have identified enteral feeding as a safe alternative to intravenous fluid hydration for inpatients with bronchiolitis receiving respiratory support. Specifically, it can improve vital signs, shorten time on high-flow nasal cannula, and is associated with reduced length of stay. We aimed to increase the percentage of patients receiving enteral feeding on admission with mild-to-moderate bronchiolitis, including those on high-flow nasal cannula, from 83% to 95% within 6 months.

Progressive Thrombocytopenia, Splenomegaly, and Abnormal Tone in an Infant With Growth Faltering.

A 4-month-old full-term female presented with growth faltering associated with progressive feeding difficulty, rash, abdominal distension, and developmental delays. She was found to have disconjugate gaze, abnormal visual tracking, mixed tone, bruising, and splenomegaly on examination. Initial workup was notable for thrombocytopenia and positive cytomegalovirus (CMV) immunoglobulin G and immunoglobulin M antibodies.

Collaborative Assessment in the Gross Anatomy Lab.

Purpose: In 2018, the Michigan State University College of Human Medicine incorporated two-stage examinations into the gross anatomy curriculum. Multiple studies have investigated two-stage examinations and have largely reported positive findings. Here, we used a mixed-methods approach to further investigate the feasibility and student perceptions of the two-stage examination in the context of a medical school curriculum that emphasizes longitudinal group-based learning and formative assessments.

Role of CAMK2D in neurodevelopment and associated conditions.

The calcium/calmodulin-dependent protein kinase type 2 (CAMK2) family consists of four different isozymes, encoded by four different genes-CAMK2A, CAMK2B, CAMK2G, and CAMK2D-of which the first three have been associated recently with neurodevelopmental disorders. CAMK2D is one of the major CAMK2 proteins expressed in the heart and has been associated with cardiac anomalies. Although this CAMK2 isoform is also known to be one of the major CAMK2 subtypes expressed during early brain development, it has never been linked with neurodevelopmental disorders until now.

Evaluating Independent Double Checks in the Pediatric Intensive Care Unit: A Human Factors Engineering Approach.

Objectives: The goal of this human factors engineering-led improvement initiative was to examine whether the independent double check (IDC) during administration of high alert medications afforded improved patient safety when compared with a single check process.

Methods: The initiative was completed at a 24-bed pediatric intensive care unit and included all patients who were on the unit and received a medication historically requiring an IDC. The total review examined 37,968 high-risk medications administrations to 4417 pediatric intensive care unit patients over a 40-month period.

Clinical Predictors of Major Intrathoracic Injury in Pediatric Blunt Trauma.

Objectives: Blunt trauma in pediatric patients accounts for a significant proportion of pediatric death from traumatic injury. Currently, there are no clinical decision-making tools available to guide imaging choice in the evaluation of pediatric patients with blunt thoracic trauma (BTT). This study aimed to analyze the rates of missed major intrathoracic injuries on chest x-ray (CXR) and identify clinical risk factors associated with major intrathoracic injuries to formulate a clinical decision-making tool for computed tomography (CT) use in pediatric patients with BTT.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Valosin-containing protein (VCP) is an AAA+ ATPase that plays critical roles in multiple ubiquitin-dependent cellular processes. Dominant pathogenic variants in VCP are associated with adult-onset multisystem proteinopathy (MSP), which manifests as myopathy, bone disease, dementia, and/or motor neuron disease. Through GeneMatcher, we identified 13 unrelated individuals who harbor heterozygous VCP variants (12 de novo and 1 inherited) associated with a childhood-onset disorder characterized by developmental delay, intellectual disability, hypotonia, and macrocephaly.

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.

The integration of precision medicine in the care of hospitalized children is ever evolving. However, access to new genomic diagnostics such as rapid whole genome sequencing (rWGS) is hindered by barriers in implementation. Michigan's Project Baby Deer (PBD) is a multi-center collaborative effort that sought to break down barriers to access by offering rWGS to critically ill neonatal and pediatric inpatients in Michigan.

Long-Acting Antiretroviral Drug Therapy in Adolescents: Current Status and Future Prospects.

Approximately 50% of human immunodeficiency virus (HIV)-infected adolescents fail to achieve complete viral suppression, largely due to nonadherence to their antiretroviral drug regimens. Numerous personal, financial, and societal barriers contribute to nonadherence, which may lead to the development of HIV drug resistance. Long-acting antiretroviral drugs hold the promise of improved adherence because they remove the need for swallowing one or more pills daily.