Development and Validation of a Stakeholder-Driven, Self-Contained Electronic Informed Consent Platform for Trio-Based Genomic Research Studies.

Background: Increasingly long and complex informed consents have yielded studies demonstrating comparatively low participant and with traditional face-to-face approaches. In parallel, interest in electronic consents for clinical and research genomics has steadily increased, yet limited data are available for trio-based genomic discovery studies. We describe the design, development, implementation, and validation of an electronic iConsent application for trio-based genomic research deployed to support genomic studies of cerebral palsy.

Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies.

Increasingly long and complex informed consents have yielded studies demonstrating comparatively low participant and with traditional face-to-face approaches. In parallel, interest in electronic consents for clinical and research genomics has steadily increased, yet limited data are available for trio-based genomic discovery studies. We describe the design, development, implementation, and validation of an electronic iConsent application for trio-based genomic research deployed to support genomic studies of cerebral palsy.

Current evidence for pharmacological management of pediatric concussion: a systematic review.

Purpose: Mild traumatic brain injury (mTBI) is a global public health problem and its current management is limited to rest and symptom management. Despite frequent use of drugs for symptom control, there is a lack of consensus on the optimal pharmacological management of post-concussive symptoms. We reviewed the relevant literature to compile the evidence about the pharmaceutical management of pediatric mTBI.

Responsive neurostimulation in pediatric patients with drug-resistant epilepsy.

Objective: Medically refractory epilepsy remains a therapeutic challenge when resective surgery is not a practical option and indirect neurostimulation efficacy may be limited. In these instances responsive neurostimulation (RNS) has been used in adults, with good outcomes in most patients. However, the utility of RNS in children and young adults has not been systematically explored.

Central Nervous System Metabolism in Autism, Epilepsy and Developmental Delays: A Cerebrospinal Fluid Analysis.

Neurodevelopmental disorders are associated with metabolic pathway imbalances; however, most metabolic measurements are made peripherally, leaving central metabolic disturbances under-investigated. Cerebrospinal fluid obtained intraoperatively from children with autism spectrum disorder (ASD, = 34), developmental delays (DD, = 20), and those without known DD/ASD ( = 34) was analyzed using large-scale targeted mass spectrometry. Eighteen also had epilepsy (EPI).

Severe Pediatric TBI Management in a Middle-Income Country and a High-Income Country: A Comparative Assessment of Two Centers.

Traumatic brain injury (TBI) is a global public health issue with over 10 million deaths or hospitalizations each year. However, access to specialized care is dependent on institutional resources and public health policy. Phoenix Children's Hospital USA (PCH) and the Neiva University Hospital, Colombia (NUH) compared the management and outcomes of pediatric patients with severe TBI over 5 years to establish differences between outcomes of patients managed in countries of varying resources availability.

Objective Dual-Task Turning Measures for Return-to-Duty Assessment After Mild Traumatic Brain Injury: The ReTURN Study Protocol.

Determining readiness for duty after mild traumatic brain injury (mTBI) is essential for the safety of service members and their unit. Currently, these decisions are primarily based on self-reported symptoms, objective measures that assess a single system, or standardized physical or cognitive tests that may be insensitive or lack ecological validity for warrior tasks. While significant technological advancements have been made in a variety of assessments of these individual systems, assessments of isolated tasks are neither diagnostically accurate nor representative of the demands imposed by daily life and military activities.

Mild Traumatic Brain Injury and Postconcussive Symptom Endorsement: A Parallel Comparison Between Two Nonclinical Cohorts.

Introduction: The prevalence of mild traumatic brain injury (mTBI) is commonly estimated based on indirect metrics such as emergency department visits and self-reporting tools. The study of postconcussive symptoms faces similar challenges because of their unspecific character and indistinct causality. In this article, we compare two nonclinical, epidemiological studies that addressed these two elements and were performed within a relatively narrow period in the state of Colorado.

Changes in attentional processing following neurofeedback in patients with persistent post-concussive symptoms: a pilot study.

Objective: Persistent post-concussive symptoms (PPCS) often include attention deficits, particularly orienting and executive attention. Research in other clinical populations has demonstrated that neurofeedback therapy (NFT) is effective at improving orienting and executive attention, although its effects on attentional networks in patients with PPCS are unknown.

Method: In this single-group pilot study, we examined attention-related event-related potentials (ERPs) - N1 and P3 - and cognitive outcomes following Live Z-score training (LZT), a variant of NFT.

Comparison of autograft versus allograft in the surgical repair of pediatric obstetrical brachial plexus injuries.

Objective: The goal of this study was to determine the functional efficacy of acellular processed nerve allograft (ALG) as compared to sural nerve autograft (AUG) harvested at time of surgery for children with obstetrical brachial plexus injury (OBPI).

Methods: A retrospective review of records was performed in patients who underwent surgical repair of OBPI between 2009 and 2015 at Phoenix Children's Hospital. Patients were grouped based on the type of nerve graft used (AUG using the patient's own sural nerve or decellularized processed cadaveric nerve ALG) and compared in terms of motor strength, British Medical Research Council score, functionality (Mallet scale score), surgical time, rate of complications, and need for further intervention.

Semi-Automated Neurofeedback Therapy for Persistent Postconcussive Symptoms in a Military Clinical Setting: A Feasibility Study.

Introduction: Neurofeedback therapy (NFT) has demonstrated effectiveness for reducing persistent symptoms following traumatic brain injury (TBI); however, its reliance on NFT experts for administration and high number of treatment sessions limits its use in military medicine. Here, we assess the feasibility of live Z-score training (LZT)-a variant of NFT that requires fewer treatment sessions and can be administered by nonexperts-for use in a military clinical setting.

Materials And Methods: A single group design feasibility study was conducted to assess acceptability, tolerance, treatment satisfaction, and change in symptoms after a 6-week LZT intervention in 38 Service Members (SMs) with persistent symptoms comorbid with or secondary to mild TBI.

Implementation of a Generalized Vestibular Rehabilitation Approach.

Introduction: Vestibular dysfunction is common in military populations as the result of traumatic brain injury, blast exposure, and/or repetitive acoustic insult. Vestibular rehabilitation (VR) has been proven to be an effective approach in the treatment of vestibular dysfunction. VR consists of a series of exercises prescribed on the basis of individual patient needs by a vestibular trained physical therapist (PT).

Vaccines and the association with relapses in patients with neuromyelitis optica spectrum disorder.

Background: It is unknown if vaccines cause non-specific immune activation in patients with neuromyelitis optica spectrum disorder and no consensus on the use of vaccines exists for this population. We investigated the temporal association of vaccinations with relapses in patients with neuromyelitis optica spectrum disorder.

Methods: This is a multi-center retrospective analysis of patients with neuromyelitis optica spectrum disorder for whom immunization history and clinical records from disease onset were available.

Analysis of extracellular RNA in cerebrospinal fluid.

We examined the extracellular vesicle (EV) and RNA composition of pooled normal cerebrospinal fluid (CSF) samples and CSF from five major neurological disorders: Alzheimer's disease (AD), Parkinson's disease (PD), low-grade glioma (LGG), glioblastoma multiforme (GBM), and subarachnoid haemorrhage (SAH), representing neurodegenerative disease, cancer, and severe acute brain injury. We evaluated: (I) size and quantity of EVs by nanoparticle tracking analysis (NTA) and vesicle flow cytometry (VFC), (II) RNA yield and purity using four RNA isolation kits, (III) replication of RNA yields within and between laboratories, and (IV) composition of total and EV RNAs by reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and RNA sequencing (RNASeq). The CSF contained ~106 EVs/μL by NTA and VFC.

Extracellular RNAs: development as biomarkers of human disease.

Ten ongoing studies designed to test the possibility that extracellular RNAs may serve as biomarkers in human disease are described. These studies, funded by the NIH Common Fund Extracellular RNA Communication Program, examine diverse extracellular body fluids, including plasma, serum, urine and cerebrospinal fluid. The disorders studied include hepatic and gastric cancer, cardiovascular disease, chronic kidney disease, neurodegenerative disease, brain tumours, intracranial haemorrhage, multiple sclerosis and placental disorders.

Meeting report: discussions and preliminary findings on extracellular RNA measurement methods from laboratories in the NIH Extracellular RNA Communication Consortium.

Extracellular RNAs (exRNAs) have been identified in all tested biofluids and have been associated with a variety of extracellular vesicles, ribonucleoprotein complexes and lipoprotein complexes. Much of the interest in exRNAs lies in the fact that they may serve as signalling molecules between cells, their potential to serve as biomarkers for prediction and diagnosis of disease and the possibility that exRNAs or the extracellular particles that carry them might be used for therapeutic purposes. Among the most significant bottlenecks to progress in this field is the lack of robust and standardized methods for collection and processing of biofluids, separation of different types of exRNA-containing particles and isolation and analysis of exRNAs.

Hypothermia in hypoxic ischemic encephalopathy: a 5-year experience at Phoenix Children's Hospital Neuro NICU.

We found TH to be safe and effective in improving survival and neurodevelopmental outcomes following HIE in term children. Additionally, the use of a multidisciplinary team involved with these complex patients and the use of advanced monitoring techniques will likely assist in identifying second insults (ie, seizures), leading to more rapidly instituted treatments. Our study, however, had the limitation of including only retrospective data from patients in whom TH was provided.

Posttraumatic seizures in children with severe traumatic brain injury.

Purpose: Traumatic brain injury (TBI) remains a leading cause of childhood death and disability worldwide. Seizures are a common complication of TBI and they are particularly common in pediatric populations. The proper management of children sustaining severe TBI is still controversial.

Recurrent skin and soft tissue infections due to methicillin-resistant Staphylococcus aureus requiring operative debridement.

Background: The aim of this study was to examine clinical factors associated with the recurrence of community-onset skin and soft tissue infections caused by methicillin-resistant Staphylococcus aureus.

Methods: An observational case-comparison study based on a retrospective review of medical records was conducted in a public health system. All patients with community-onset skin and soft tissue infections caused by methicillin-resistant S aureus who underwent operative debridement from January 1999 to December 2003 were included.

Diaphragmatic injuries: what has changed over a 20-year period?

Traumatic diaphragmatic injuries are uncommon events but are associated with a high mortality. We hypothesize that injury pattern has changed over time with increasing prevalence of blunt injuries. A retrospective chart review was performed of 124 patients who sustained traumatic diaphragmatic injuries over the 20-year period between January 1, 1986 and December 31, 2005.

Computed tomography grading systems poorly predict the need for intervention after spleen and liver injuries.

Computed tomography (CT) grading systems are often used clinically to forecast the need for interventions after abdominal trauma with solid organ injuries. We compared spleen and liver CT grading methods to determine their utility in predicting the need for operative intervention or angiographic embolization. Abdominal CT scans of 300 patients with spleen injuries, liver injuries, or both were evaluated by five trauma faculty members blinded to clinical outcomes.

Phase I/II randomized trial evaluating the safety and clinical effects of repifermin administered to reduce mucositis in patients undergoing autologous hematopoietic stem cell transplantation.

Purpose: To evaluate the safety of repifermin (keratinocyte growth factor-2) administered before and after autologous hematopoietic stem cell transplantation (auto-HSCT). A preliminary analysis of the ability of keratinocyte growth factor-2 to prevent mucositis was also done.

Experimental Design: Forty-two patients received intravenous repifermin (25 microg/kg or 50 microg/kg) or placebo for 3 days before their auto-HSCT conditioning regimen and for up to 10 days after auto-HSCT.