The Initial Experience After Pediatric Firearm Injury: A Multifaceted Qualitative Approach.

Introduction: Firearm victims sustain a disproportionate mental health burden. Inpatient pediatric psychology consult liaison (CL) services provide comprehensive evaluation after injury. We aim to explore CL documentation qualitatively to better understand the initial psychological experience after firearm injury in children compared to motor vehicle crash (MVC) injury.

Accuracy of fetal fraction measurements in a single-nucleotide polymorphism-based noninvasive prenatal test.

Background: Noninvasive prenatal testing (NIPT) for fetal aneuploidy relies on the analysis of fetoplacental cell-free DNA (cfDNA) found in maternal plasma. A minimum cfDNA fetal fraction (FF) is required for reliable test performance, but some methods may have suboptimal accuracy for FF measurement. This study investigated the accuracy of a single-nucleotide polymorphism- (SNP-) based NIPT method to assess FF.

Plasma circulating microRNAs associated with blood-based immune markers: a population-based study.

MicroRNAs (miRNAs) are small non-coding RNAs that post-transcriptionally regulate gene expression and different immune-related pathways. There is a great interest in identifying miRNAs involved in immune cell development and function to elucidate the biological mechanisms underlying the immune system, its regulation, and disease. In this study, we aimed to investigate the association of circulating miRNAs with blood cell compositions and blood-based immune markers.

Developmental Dysplasia of the Hip Is Not Associated with Breech Presentation in Preterm Infants.

Objectives: The aim of the study is to (1) determine the incidence of developmental dysplasia of the hip (DDH) in preterm infants born prior to 35 completed weeks' gestation in a breech presentation, and (2) evaluate if the association between breech presentation and DDH in full-term infants holds for premature infants.

Study Design: This study design comprises retrospective review of infants born between January 1, 2008, and December 31, 2017, at <35 weeks' gestation and admitted to the NICU. Infants had hip ultrasounds at 4 to 6 weeks' corrected age if they were born in a breech presentation with a stable hip examination.

Reproductive genetic screening for information: evolving paradigms?

Reproductive genetic screening has introduced the possibility for pregnant women to learn, during the pregnancy or sometimes earlier, about the likelihood of their baby being affected with certain genetic conditions. As medicine progresses, the options afforded by this early information have expanded. This has led to a shifting paradigm in prenatal screening, wherein the early knowledge is seen as useful not solely for its inherent value to the pregnant woman, but also as enabling an expansion of conditions whose identification may allow early intervention and clinical impact.

Blunt traumatic brachial plexus injuries in a northern rural US setting: increased likelihood in unshielded motor-powered crashes.

Background: Blunt traumatic brachial plexus injuries (BTBPI) are severe peripheral nerve injuries which present in a small portion of trauma patients but can result in long-term neurological disability and severe chronic pain.

Objective: The goal of this study was to describe the epidemiology of BTBPI in a northern rural setting caused by motor-powered collisions, and to determine the relative risk of these injuries in shielded (cars, trucks, vans, and so on) and unshielded vehicles (snowmobiles, all-terrain vehicles and motorcycles).

Methods: This retrospective study describes the epidemiology of BTBPI caused by motor-powered collisions and treated at two level II trauma centers in northeast Minnesota and determines the relative risk of these injuries in shielded (cars, trucks, vans, and so on) and unshielded vehicles (snowmobiles, all-terrain vehicles and motorcycles).

Creating a Rural Surgery Track and a Review of Rural Surgery Training Programs.

Objective: The objective of this study was to present the process of developing a rural surgery training track within an established residency program and review the current rural surgery training programs in the nation.

Design: This study reviews current rural surgery training opportunities at Accreditation Council for Graduate Medical Education accredited surgical residencies in the United States and presents the process of creating the University of Minnesota's rural surgery training track.

Setting: This study was performed at the University of Minnesota, in Minneapolis, Minnesota, and at Essentia Health-Saint Mary's Medical Center, in Duluth, Minnesota.

Static cerebrovascular pressure autoregulation remains intact during deep hypothermia.

Background: Clinical studies measuring cerebral blood flow in infants during deep hypothermia have demonstrated diminished cerebrovascular pressure autoregulation. The coexistence of hypotension in these cohorts confounds the conclusion that deep hypothermia impairs cerebrovascular pressure autoregulation.

Aim: We sought to compare the lower limit of autoregulation and the static rate of autoregulation between normothermic and hypothermic piglets.

Critical points for an accurate human genome analysis.

Next-generation sequencing is radically changing how DNA diagnostic laboratories operate. What started as a single-gene profession is now developing into gene panel sequencing and whole-exome and whole-genome sequencing (WES/WGS) analyses. With further advances in sequencing technology and concomitant price reductions, WGS will soon become the standard and be routinely offered.

Known unknowns: building an ethics of uncertainty into genomic medicine.

Background: Genomic testing has reached the point where, technically at least, it can be cheaper to undertake panel-, exome- or whole genome testing than it is to sequence a single gene. An attribute of these approaches is that information gleaned will often have uncertain significance. In addition to the challenges this presents for pre-test counseling and informed consent, a further consideration emerges over how - ethically - we should conceive of and respond to this uncertainty.

Dermatomyositis presenting as a paraneoplastic syndrome with resolution of symptoms following surgical management of underlying breast malignancy.

Breast cancer is the most common cancer in women in the USA, with the lifetime incidence of 1 in 8 women. Dermatomyositis (DM) is an uncommon idiopathic inflammatory myopathy that can manifest as a paraneoplastic syndrome of an underlying malignancy. Here, we report a case of a patient who presented with breast cancer and DM symptoms.

Distal 10q monosomy: new evidence for a neurobehavioral condition?

Pure distal monosomy of the long arm of chromosome 10 is a rare cytogenetic abnormality. The location and size of the deletions described in this region are variable. Nevertheless, the patients share characteristic facial appearance, variable cognitive impairment and neurobehavioral manifestations.

Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.

We describe a patient with striking generalized symmetrical enchondromatosis of the tubular bones and a de novo duplication of chromosome 12p11.23 to 12p11.22.

Childhood genetic testing for familial cancer: should adoption make a difference?

Professional guidelines and practice in clinical genetics generally counsel against predictive genetic testing in childhood. A genetic test should not be performed in a child who is too young to choose it for himself unless that test is diagnostic, will lead to an intervention to prevent illness, or enable screening. It is therefore generally considered unacceptable to test young children for adult-onset cancer syndromes.