Gene-environment interactions increase the risk of paediatric-onset multiple sclerosis associated with household chemical exposures.

Background: We previously reported an association between household chemical exposures and an increased risk of paediatric-onset multiple sclerosis.

Methods: Using a case-control paediatric multiple sclerosis study, gene-environment interaction between exposure to household chemicals and genotypes for risk of paediatric-onset multiple sclerosis was estimated.Genetic risk factors of interest included the two major HLA multiple sclerosis risk factors, the presence of and the absence of and multiple sclerosis risk variants within the metabolic pathways of common household toxic chemicals, including (rs2069852), (rs2187163) and (rs7665090).

Cardiovascular Risk Factors and Target Organ Damage in Adolescents: The SHIP AHOY Study.

Background: Development of cardiovascular disease in adults has been directly linked to an adverse metabolic phenotype. While there is evidence that development of these risk factors in childhood persists into adulthood and the development of cardiovascular disease, less is known about whether these risk factors are associated with target organ damage during adolescence.

Methods: We collected data from 379 adolescents (mean age 15.

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care specialists. Here, we describe an integrated clinical diagnostic and research program using whole-exome and whole-genome sequencing (WES/WGS) for Mendelian disease gene discovery.

Optimizing Stimulus Patterns for Dense Array tDCS With Fewer Sources Than Electrodes Using A branch and Bound Algorithm.

Dense array transcranial direct current stimulation (tDCS) has become of increasing interest as a noninvasive modality to modulate brain function. To target a particular brain region of interest (ROI), using a dense electrode array placed on the scalp, the current injection pattern can be appropriately optimized. Previous optimization methods have assumed availability of individually controlled current sources for each non-reference electrode.

Chemical screening in zebrafish for novel biological and therapeutic discovery.

Zebrafish chemical screening allows for an in vivo assessment of small molecule modulation of biological processes. Compound toxicities, chemical alterations by metabolism, pharmacokinetic and pharmacodynamic properties, and modulation of cell niches can be studied with this method. Furthermore, zebrafish screening is straightforward and cost effective.

Overview and diagnosis of acute appendicitis in children.

Appendicitis represents the most common abdominal surgical emergency in the pediatric age group. Despite being a relatively common condition, the diagnosis of appendicitis in children can prove to be challenging in many cases. The goal of this article is to review the predictive utility for presenting signs and symptoms, laboratory tests, and imaging studies in the diagnostic work-up of appendicitis.

A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes.

Aim: In order to provide adequate treatment to a patient with a subtype of Oromandibular Limb Hypogenesis Syndromes (OLHS), this study aimed to review and to analyze the current literature and treatment options of OLHS.

Methods: Literature review in PubMed and Sciencedirect. Due to the small number of results, all available references were analyzed precisely.

Outcomes of children implanted with ventricular assist devices in the United States: First analysis of the Pediatric Interagency Registry for Mechanical Circulatory Support (PediMACS).

Background: Use of mechanical circulatory support in children has increased as more options have become available. A national account of the use of mechanical support in children and adolescents is essential to understanding outcomes, refining patient selection and improving quality of care.

Methods: The Pediatric Interagency Registry for Mechanical Circulatory Support (PediMACS) is a National Heart, Lung, and Blood Institute-supported nationwide registry for temporary and durable ventricular assist device (VAD) use in patients <19 years of age.

Variation in pediatric surgical care.

Variation in care and outcomes are common in the management of children with surgical diseases. Differences in the availability of resources, patient and family preferences, ever-increasing fiscal pressure, and lack of high-quality data to guide clinical decision making are just a few factors that contribute to both the over and under-utilization of healthcare resources. Identification of data-driven, value-based "best practices" that are sensitive to differences in resource availability and patient preferences may be an important first step in establishing a practical framework for reducing unwarranted practice variation.

Novel mechanisms for superoxide-scavenging activity of human manganese superoxide dismutase determined by the K68 key acetylation site.

Superoxide is the primary reactive oxygen species generated in the mitochondria. Manganese superoxide dismutase (SOD2) is the major enzymatic superoxide scavenger present in the mitochondrial matrix and one of the most crucial reactive oxygen species-scavenging enzymes in the cell. SOD2 is activated by sirtuin 3 (SIRT3) through NAD(+)-dependent deacetylation.

Berberine regulates neurite outgrowth through AMPK-dependent pathways by lowering energy status.

As a widely used anti-bacterial agent and a metabolic inhibitor as well as AMP-activated protein kinase (AMPK) activator, berberine (BBR) has been shown to cross the blood-brain barrier. Its efficacy has been investigated in various disease models of the central nervous system. Neurite outgrowth is critical for nervous system development and is a highly energy-dependent process regulated by AMPK-related pathways.

En route to disentangle the impact and neurobiological substrates of early vocalizations: learning from Rett syndrome.

Research on acoustic communication and its underlying neurobiological substrates has led to new insights about the functioning of central pattern generators (CPGs). CPG-related atypicalities may point to brainstem irregularities rather than cortical malfunctions for early vocalizations/babbling. The "vocal pattern generator," together with other CPGs, seems to have great potential in disentangling neurodevelopmental disorders and potentially predict neurological development.

Positive end-expiratory pressure to increase internal jugular vein size is poorly tolerated in obese anesthetized adults.

Background: Central venous cannulation is technically challenging in obese patients. We hypothesized that positive end-expiratory pressure (PEEP) increases the size of the internal jugular vein (IJV) in obese adults.

Methods: The circumference and cross-sectional area of the IJV were measured in obese patients under general anesthesia at PEEP 0, 5, and 10 cm H2O.

Post-translational modification and mitochondrial relocalization of histone H3 during apoptosis induced by staurosporine.

Post-translational modifications (PTMs) of histones such as phosphorylation, acetylation, and ubiquitination, collectively referred to as the "histone-code", have been known to regulate gene expression and chromatin condensation for over a decade. They are also implicated in processes such as DNA repair and apoptosis. However, the study of the phosphorylation of histones has been mainly focused on chromosome condensation and mitosis.

Non-reflux esophagitis: a review of inflammatory diseases of the esophagus exclusive of reflux esophagitis.

Esophagitis is a frequent cause of clinical symptoms and is often an indication for upper endoscopy. Mucosal biopsies are procured for diagnostic purposes and may be used to assess the efficacy of treatment, as in patients with eosinophilic esophagitis. This article outlines salient clinical and pathologic features of diseases that cause esophagitis exclusive of reflux esophagitis.

Improving the clinical efficiency of T2(*) mapping of ligament integrity.

Current MR methods use T2(*) relaxation time as a surrogate measure of ligament strength. Currently, a multi-echo voxel-wise least squares fit is the gold standard to create T2(*) maps; however, the post-processing is time-intensive and serves as a stopgap for clinical use. The study objective was to determine if an alternative method could improve post-processing time without sacrificing fidelity of T2(*) values for eventual translational use in the clinic.

Surgical management of osteoarthritis.

The last few years have witnessed significant advancements in arthroplasty. The procedure is mainly used to treat osteoarthritis of the hip and knee joint. Other joints such as the shoulder or ankle are also being successfully replaced by arthroplasty.

Differential activation of human T cells to allogeneic endothelial cells, epithelial cells and fibroblasts in vitro.

Background: In the direct pathway, T cells recognize intact donor major histocompatability complexes and allogeneic peptide on the surface of donor antigen presenting cells (APCs). Indirect allorecognition results from the recognition of processed alloantigen by self MHC complexes on self APCs. In this study, we wished to evaluate the relative contribution of different intragraft cells to the alloactivation of nave and memory T cells though the direct and the indirect pathway of allorecognition.

Ultrasound in sports medicine: relevance of emerging techniques to clinical care of athletes.

The applications of ultrasound in managing the clinical care of athletes have been expanding over the past decade. This review provides an analysis of the research that has been published regarding the use of ultrasound in athletes and focuses on how these emerging techniques can impact the clinical management of athletes by sports medicine physicians. Electronic database literature searches were performed using the subject terms 'ultrasound' and 'athletes' from the years 2003 to 2012.

WHOLE BRAIN GROUP NETWORK ANALYSIS USING NETWORK BIAS AND VARIANCE PARAMETERS.

The disruption of normal function and connectivity of neural circuits is common across many diseases and disorders of the brain. This disruptive effect can be studied and analyzed using the brain's complex functional and structural connectivity network. Complex network measures from the field of graph theory have been used for this purpose in the literature.

Liposomes for HIV prophylaxis.

There are approximately 33.4 million adults living with HIV worldwide of which an estimated 15.7 million are women.