Vancomycin Prescribing and Therapeutic Drug Monitoring in Children With and Without Acute Kidney Injury After Cardiac Arrest.

Background: Acute kidney injury (AKI) commonly occurs after cardiac arrest. Those subsequently treated with vancomycin are at additional risk for drug-induced kidney injury.

Objective: We aimed to determine whether opportunities exist for improved drug monitoring after cardiac arrest.

Mitochondrial Dysfunction in Heart Failure With Preserved Ejection Fraction.

Heart failure with preserved ejection fraction (HFpEF) is a complex syndrome with an increasingly recognized heterogeneity in pathophysiology. Exercise intolerance is the hallmark of HFpEF and appears to be caused by both cardiac and peripheral abnormalities in the arterial tree and skeletal muscle. Mitochondrial abnormalities can significantly contribute to impaired oxygen utilization and the resulting exercise intolerance in HFpEF.

Human neutrophil peptide-1 inhibits thrombus formation under arterial flow via its terminal free cysteine thiols.

Essentials Biological activity of human neutrophil peptide (HNP)-1 in hemostasis under physiological conditions is not fully understood. HNP-1 inhibits the adhesion/aggregation of murine platelets on a fibrillar collagen surface or an activated endothelial cell surface under flow. The anti-adhesion activity appears to depend on the terminal free thiols of HNP-1, which may inhibit VWF-VWF lateral associations.

Associations of echocardiographic features with stroke in those without atrial fibrillation.

Objective: To determine the associations between transthoracic echocardiogram (TTE) cardiac structure/function measures and cardioembolic stroke (CES) and new-onset atrial fibrillation (AF) in patients without known AF.

Methods: Inpatients at a single institution (2013-2015) with imaging-confirmed ischemic stroke, no AF, and TTE within the 1st week were included. TTE structure/function variables were abstracted.

Best Practices for Teaching Care Management of Undocumented Patients.

Different standards of care for undocumented Latino patients raises ethical questions for teachers and learners. This lack of parity can cause moral distress for both and prompts consideration of whether decisions made on a patient's behalf are ethical. Teaching advocacy and creating projects and partnerships to improve access and quality of care for this vulnerable population can help fight burnout and improve health outcomes.

Are Clinicians Obliged to Disclose Their Immigration Status to Patients?

Undocumented immigrants are part of the health care workforce, whether they are eligible to work in the United States through the Deferred Action for Childhood Arrivals (DACA) program or other visa programs or permits. This case commentary considers whether-and if so, when-a clinician should reveal her immigration status to patients. After reviewing the literature on clinician self-disclosure, this commentary discusses how sharing immigration status could benefit the patient-particularly if the clinician has an immigration status that could interrupt care-but could also draw the focus away from the patient, possibly eroding trust between patient and physician.

Pathways to Abortion at a Tertiary Care Hospital: Examining Obesity and Delays.

Context: Advancing gestational age can increase the cost of an abortion and is a significant risk factor for complications. While obesity is not associated with increased risks, anecdotal evidence suggests that obese women seeking services at freestanding abortion clinics are often referred for hospital-based care, which can lead to delays.

Methods: In 2016, a cross-sectional survey collected data on the experiences of 201 women who had obtained abortions at a hospital-based clinic in Philadelphia; rates of medical complications were determined from hospital records.

Virtual Visits Partially Replaced In-Person Visits In An ACO-Based Medical Specialty Practice.

Specialty care contributes significantly to total medical expenditures, for which accountable care organizations (ACOs) are responsible. ACOs have sought to replace costly in-person visits with lower-cost alternatives such as virtual visits (videoconferencing with physicians). In fee-for-service environments, virtual visits appear to add to in-person visits instead of replacing them.

A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.

The PCDH19 gene consists of six exons encoding a 1,148 amino acid transmembrane protein, Protocadherin 19, which is involved in brain development. Heterozygous pathogenic variants in this gene are inherited in an unusual X-linked dominant pattern in which heterozygous females are affected, while hemizygous males are typically unaffected, although they pass on the pathogenic variant to each affected daughter. PCDH19-related disorder is known to cause early-onset epilepsy in females characterized by seizure clusters exacerbated by fever and in most cases, onset is within the first year of life.

Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.

Chromosome 22q11.2 deletion syndrome is the most common microdeletion syndrome in humans. The effects are protean and highly variable, making a unified approach difficult.

Self-reported physical activity levels and clinical progression in early Parkinson's disease.

Introduction: This study investigates longitudinal changes in self-reported physical activity, measured by Physical Activity Scale of the Elderly (PASE), in early Parkinson's disease (PD) and matched healthy control (HC) participants in the Parkinson's Progression Marker Initiative (PPMI) and evaluates associations between physical activity and PD progression.

Methods: PPMI is a prospective, longitudinal study evaluating markers of progression in PD participants who are unmedicated at enrollment. PASE, a self-reported measure of physical activity, was administered to early PD (N = 380) and HC (N = 174).

How Should Clinicians Respond When Patients Are Influenced by Celebrities' Cancer Stories?

Despite the prodigious medical literature on cancer care, some patients rely on celebrity narratives as frameworks for understanding their experiences of cancer and as benchmarks for decision making. Regardless of whether these narratives are appropriate sources of health information for patients, it has been shown that celebrity narratives influence patterns of care. Three cases-John McCain, Angelina Jolie, and Jimmy Carter-are presented to illustrate how media coverage of cancer can have unforeseen consequences on individual patients exposed to these kinds of stories.

Skeletal Morbidity in Children and Adolescents during and following Cancer Therapy.

Skeletal abnormalities are common in children and adolescents diagnosed and treated for a malignancy. The spectrum ranges from mild pain to debilitating osteonecrosis and fractures. In this review, we summarize the impact of cancer therapy on the developing skeleton, provide an update on therapeutic strategies for prevention and treatment, and discuss the most recent advances in musculoskeletal research.

Harmonized outcome measures for use in atrial fibrillation patient registries and clinical practice: Endorsed by the Heart Rhythm Society Board of Trustees.

Background: Atrial fibrillation (AF) affects an estimated 33 million people worldwide, leading to increased mortality and an increased risk of heart failure and stroke. Many AF patient registries exist, but the ability to link and compare data across registries is hindered by differences in the outcome measures collected by each registry and a lack of harmonization.

Objectives: The purpose of this project was to develop a minimum set of standardized outcome measures that could be collected in AF patient registries and clinical practice.

Childhood adversity impact on gut microbiota and inflammatory response to stress during pregnancy.

Background: Adverse childhood experiences (ACEs), such as abuse or chronic stress, program an exaggerated adult inflammatory response to stress. Emerging rodent research suggests that the gut microbiome may be a key mediator in the association between early life stress and dysregulated glucocorticoid-immune response. However, ACE impact on inflammatory response to stress, or on the gut microbiome, have not been studied in human pregnancy, when inflammation increases risk of poor outcomes.

Neurologic challenges in 22q11.2 deletion syndrome.

Children with 22q11.2 deletion syndrome often come to medical attention due to signs and symptoms of neurologic dysfunction. It is imperative to understand the expected neurologic development of patients with this diagnosis in order to be alert for the potential neurologic complications, including cortical malformations, tethered cord, epilepsy, and movement disorders.

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes sequencing large numbers of genes, which often yields a significant number of novel variants. Therefore, the standardization of variant interpretation is crucial to provide consistent and accurate diagnoses. The Hearing Loss Variant Curation Expert Panel was created within the Clinical Genome Resource to provide expert guidance for standardized genomic interpretation in the context of HL.

Lumbar Spine Bone Mineral Apparent Density in Children: Results From the Bone Mineral Density in Childhood Study.

Context: Dual-energy X-ray absorptiometry (DXA) is a cornerstone of pediatric bone health assessment, yet differences in height-for-age confound the interpretation of areal bone mineral density (aBMD) measures. To reduce the confounding of short stature on spine bone density, use of bone mineral apparent density (BMAD) and height-for-age Z-score (HAZ)‒adjusted aBMD (aBMDHAZ) are recommended. However, spine BMAD reference data are sparse, and the degree to which BMAD and aBMDHAZ account for height-related artifacts in bone density remains unclear.

Nodal staging of high-risk cutaneous squamous cell carcinoma.

Background: While progress has been made in defining the clinical and histopathologic features of high-risk cutaneous squamous cell carcinoma (HRcSCC), optimal staging guidelines remain elusive.

Objective: We seek to guide clinical practice regarding nodal staging options for patients with HRcSCC via review of evolving definitions of HRcSCC, nodal staging options, and how nodal staging may impact treatment and affect outcomes.

Methods: This was a retrospective review of the published peer-reviewed literature regarding risk stratification, nodal staging, and treatment and outcomes for patients with HRcSCC via PubMed.

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.

The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria, including a pathogenic criterion (PVS1) for predicted loss of function variants. However, the guideline did not elaborate on specific considerations for the different types of loss of function variants, nor did it provide decision-making pathways assimilating information about variant type, its location, or any additional evidence for the likelihood of a true null effect. Furthermore, this guideline did not take into account the relative strengths for each evidence type and the final outcome of their combinations with respect to PVS1 strength.

The Proactive Patient: Long-Term Care Insurance Discrimination Risks of Alzheimer's Disease Biomarkers.

Previously diagnosed by symptoms alone, Alzheimer's disease is now also defined by measures of amyloid and tau, referred to as "biomarkers." Biomarkers are detectible up to twenty years before symptoms present and open the door to predicting the risk of Alzheimer's disease. While these biomarkers provide information that can help individuals and families plan for long-term care services and supports, insurers could also use this information to discriminate against those who are more likely to need such services.

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

Variant interpretation depends on accurate annotations using biologically relevant transcripts. We have developed a systematic strategy for designating primary transcripts and have applied it to 109 hearing loss-associated genes that were divided into three categories. Category 1 genes (n = 38) had a single transcript; category 2 genes (n = 33) had multiple transcripts, but a single transcript was sufficient to represent all exons; and category 3 genes (n = 38) had multiple transcripts with unique exons.

Perceptions of hospitalized patients and their surrogate decision makers on dialysis initiation: a pilot study.

Background: Dialysis is often initiated in the hospital during episodes of acute kidney injury and critical illness. Little is known about how patients or their surrogate decision makers feel about dialysis initiation in the inpatient setting.

Methods: We conducted a prospective cohort study at a large academic center in the United States.

The contribution of orexins to sex differences in the stress response.

Women are twice as likely as men to suffer from stress-related psychiatric disorders, such as post-traumatic stress disorder (PTSD) and Major Depressive Disorder (MDD), however, the biological basis of these sex differences is not fully understood. Interestingly, orexins are known to be dysregulated in these disorders. This review first discusses the important role of orexins regulating the response to stress.

Prolonged respiratory support of any type impacts outcomes of extremely low birth weight infants.

Objectives: This study tested the hypothesis that longer duration of any type of respiratory support is associated with an increased rate of death or neurodevelopmental impairment (NDI) at 18-22 months.

Methods: Retrospective cohort study using the Generic Database of NICHD Neonatal Research Network from 2006 to 2010. Infants were born at <27 weeks gestational age with birth weights of 401-1000 g.