A comprehensive analysis of #Enuresis conversation on Twitter.

Introduction: We sought to perform a quantitative and qualitative analysis of online Twitter discussion of enuresis using the hashtag #Enuresis.

Methods: Symplur, a fee-based Twitter analytics service, was employed to aggregate and analyze Twitter activity, users, and content for #Enuresis, the official Twitter hashtag for enuresis, between June 2016 and November 2018. Twitter activity was analyzed using average tweets and new users per month.

Physician Social Media Abuse: What Would You Do?

Over the past decade, physician social media use has been made popular and evolved from simple Facebook pages to rapid, instant media sharing. New social media applications, such as Snapchat and Instagram, are finding welcome homes in personal cell phones of physicians. The purpose of this article is to determine patients' views of not only physician use of these apps but also how they would react if their physician abused this technology.

Impact of an Extraglottic Device on Pediatric Airway Management in an Urban Prehospital System.

Introduction: Prehospital pediatric endotracheal intubation has lower first-pass success rates compared to adult intubations and in general may not offer a survival benefit. Increasingly, emergency medical services (EMS) systems are deploying prehospital extraglottic airways (EGA) for primary pediatric airway management, yet little is known about their efficacy. We evaluated the impact of a pediatric prehospital airway management protocol change, inclusive of EGAs, on airway management and patient outcomes in children in cardiac arrest or respiratory failure.

Improving long term patient outcomes from deep brain stimulation for treatment-refractory obsessive-compulsive disorder.

: Deep brain stimulation (DBS) has emerged as an effective treatment for patients with severe treatment-refractory obsessive-compulsive disorder (OCD). Over the past two decades, several clinical trials with multiple years of follow-up have shown that DBS offers long-term symptom relief for individuals with severe OCD, though a portion of patients do not achieve an adequate response.: This review sought to summarize the literature on the efficacy and long-term effectiveness of DBS for OCD, and to identify strategies that have the potential to improve treatment outcomes.

The significance of abdominal radiographs with paucity of gas in pediatric adhesive small bowel obstruction.

Purpose: Management of children with adhesive small bowel obstruction (ASBO) is often based on abdominal radiographs (AXR). Our purpose was to determine the significance of paucity of gas on initial AXR.

Methods: Retrospective, single center review of children with ASBO between 2011 and 2015.

Analysis of management decisions and outcomes of a weekly multidisciplinary pediatric tumor board meeting in Uganda.

Aim: To evaluate the efficacy of a pediatric multidisciplinary tumor board (MTB) in Uganda.

Patients & Methods: We documented the discussion of cases presented at a pediatric MTB and subsequently, though retrospective chart review, determined the degree to which decision were implemented.

Results: 95 patients were discussed.

The CLN3 gene and protein: What we know.

Background: One of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental understanding of the CLN3 gene, its regulation, gene product, protein structure, tissue distribution, biomarker use, and pathological responses to its deficiency, lays the groundwork for determining therapeutic action plans.

Objectives: To present an unbiased comprehensive reference tool of the experimental understanding of the CLN3 gene and gene product of the same name.

Evaluating a Novel Simulation Course for Prehospital Provider Resuscitation Training in Botswana.

Introduction: In 2012, Botswana embarked on an organized public approach to prehospital medicine. One goal of the Ministry of Health (MOH) was to improve provider education regarding patient stabilization and resuscitation. Simulation-based instruction is an effective educational strategy particularly for high-risk, low-frequency events.

Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family.

Background: Genetic risk factors play an important role in the pathogenesis of familial intracranial aneurysms (FIAs); however, the molecular mechanisms remain largely unknown.

Objective: To investigate potential FIA-causing genetic variants by rare variant interrogation and a family-based genomics approach in a large family with an extensive multigenerational pedigree with FIAs.

Method: Exome sequencing (ES) was performed in a dominant likely family with intracranial aneurysms (IAs).

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Purpose: Haploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A variants.

Methods: A large database of clinical exome sequencing (ES) was queried for de novo DYRK1A variants and CAKUT/GD phenotypes were characterized.

Bedside Usability Surveys: Adding Authentic User Detail to the Assessment.

Errors in healthcare are a leading cause of death in the United States. Equipment usability and user interfaces remain an area not fully elucidated. Infusion pumps play a vital role in care delivery, often essential for critical therapies.

Robust pathway-based multi-omics data integration using directed random walks for survival prediction in multiple cancer studies.

Background: Integrating the rich information from multi-omics data has been a popular approach to survival prediction and bio-marker identification for several cancer studies. To facilitate the integrative analysis of multiple genomic profiles, several studies have suggested utilizing pathway information rather than using individual genomic profiles.

Methods: We have recently proposed an integrative directed random walk-based method utilizing pathway information (iDRW) for more robust and effective genomic feature extraction.

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.

Background: Intrachromosomal triplications (TRP) can contribute to disease etiology via gene dosage effects, gene disruption, position effects, or fusion gene formation. Recently, post-zygotic de novo triplications adjacent to copy-number neutral genomic intervals with runs of homozygosity (ROH) have been shown to result in uniparental isodisomy (UPD). The genomic structure of these complex genomic rearrangements (CGRs) shows a consistent pattern of an inverted triplication flanked by duplications (DUP-TRP/INV-DUP) formed by an iterative DNA replisome template-switching mechanism during replicative repair of a single-ended, double-stranded DNA (seDNA), the ROH results from an interhomolog or nonsister chromatid template switch.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16.

Background: Congenital malformations associated with maternal uniparental disomy of chromosome 16, upd(16)mat, resemble those observed in newborns with the lethal developmental lung disease, alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). Interestingly, ACDMPV-causative deletions, involving FOXF1 or its lung-specific upstream enhancer at 16q24.1, arise almost exclusively on the maternally inherited chromosome 16.

An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report.

Background: Klippel-Trénaunay syndrome (KTS) is a rare congenital condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft tissue hypertrophy.

Case Presentation: Here we report the first case of a one-day-old male with KTS presenting with crossed-bilateral limb hypertrophy and post-axial polydactyly.

Conclusion: This case serves to highlight the variable presentation and multiple problems faced by patients with KTS and why multidisciplinary management is mandatory.

Persistent motor dysfunction despite homeostatic rescue of cerebellar morphogenesis in the Car8 waddles mutant mouse.

Background: Purkinje cells play a central role in establishing the cerebellar circuit. Accordingly, disrupting Purkinje cell development impairs cerebellar morphogenesis and motor function. In the Car8 mouse model of hereditary ataxia, severe motor deficits arise despite the cerebellum overcoming initial defects in size and morphology.

Using formalin fixed paraffin embedded tissue to characterize the preterm gut microbiota in necrotising enterocolitis and spontaneous isolated perforation using marginal and diseased tissue.

Background: Necrotising enterocolitis (NEC) is a common cause of death in preterm infants and is closely linked to the gut microbiota. Spontaneous intestinal perforation (SIP) also occurs in preterm neonates, but results in lower mortality and less adverse neonatal outcomes than NEC. Existing studies are largely limited to non-invasive stool samples, which may not be reflective of the anatomical site of disease.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Background: Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological manifestations with variants in a large number of genes (hundreds) associated. To date, a few de novo mutations potentially disrupting TCF20 function in patients with ID, ASD, and hypotonia have been reported. TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis syndrome (deletion/haploinsufficiency) and Potocki-Lupski syndrome (duplication/triplosensitivity).

Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study.

Background: Patient reported outcome (PRO) information is crucial for establishing better patient-provider communication, improving shared decision-making between clinicians and patients, assessing patient responses to therapeutic interventions, and increasing satisfaction with care. We used the Brittle Bones Disease Consortium (BBDC) Contact Registry for People with OI, managed by the Rare Disease Clinical Research Network (RDCRN) to (1) to evaluate the construct validity of the Patient-Reported Outcome Measurement Information System® (PROMIS®) to record important components of the disease experience among individuals with OI; and (2) explore the feasibility of using a registry to recruit individuals with OI to report on health status. Our long-term goal is to enhance communication of health and disease management findings back to the OI community, especially those who do not have access to major OI clinical centers.

Process based quality improvement using a continuous renal replacement therapy dashboard.

Background: The prevalence of continuous renal replacement therapy (CRRT) utilization in critically ill patients with acute kidney is increasing. In comparison to published and on-going trials attempting to answer questions surrounding the optimal timing of CRRT initiation, anticoagulation, and modality, a paucity of literature describes the quality of the therapy delivered.

Methods: We conducted a single-center process improvement project to determine if a methodology to assess the quality of CRRT delivery could lead to improvement in CRRT delivery outcomes.

Bradykinin 1 receptor blockade subdues systemic autoimmunity, renal inflammation, and blood pressure in murine lupus nephritis.

Objective: The goal of this study was to explore the role of bradykinins and bradykinin 1 receptor (B1R) in murine lupus nephritis.

Methods: C57BL/6 and MRL/lpr mice were compared for renal expression of B1R and B2R by western blot and immunohistochemistry. MRL/lpr lupus-prone mice were administered the B1R antagonist, SSR240612 for 12 weeks, and monitored for blood pressure, proteinuria, renal function, and serum autoantibodies.

Metabolomics of mammalian brain reveals regional differences.

Background: The mammalian brain is organized into regions with specific biological functions and properties. These regions have distinct transcriptomes, but little is known whether they may also differ in their metabolome. The metabolome, a collection of small molecules or metabolites, is at the intersection of the genetic background of a given cell or tissue and the environmental influences that affect it.

Age-of-diagnosis dependent ileal immune intensification and reduced alpha-defensin in older versus younger pediatric Crohn Disease patients despite already established dysbiosis.

Age-of-diagnosis associated variation in disease location and antimicrobial sero-reactivity has suggested fundamental differences in pediatric Crohn Disease (CD) pathogenesis. This variation may be related to pubertal peak incidence of ileal involvement and Peyer's patches maturation, represented by IFNγ-expressing Th1 cells. However, direct mucosal evidence is lacking.