Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy.

Background And Objectives: To describe the neurobehavioral phenotype of congenital myotonic dystrophy. Congenital myotonic dystrophy (CDM) is the most severe form of myotonic dystrophy, characterized by symptom presentation at birth and later, cognitive impairment, autistic features, and disordered sleep.

Methods: The neurobehavioral phenotype was assessed in this cross-sectional study by a neuropsychological battery consisting of the Wechsler Preschool and Primary Scale of Intelligence, Third Edition, Weschler Intelligence Scale for Children, Fourth Edition, Vineland Adaptive Behavior Scale, Second Edition (Vineland-II), Behavior Rating Inventory of Executive Function including preschool and teacher reports, Autism Spectrum Screening Questionnaire, Social Communication Scale, and Repetitive Behavior Scale-Revised.

Germline mutation rates in young adults predict longevity and reproductive lifespan.

Ageing may be due to mutation accumulation across the lifespan, leading to tissue dysfunction, disease, and death. We tested whether germline autosomal mutation rates in young adults predict their remaining survival, and, for women, their reproductive lifespans. Age-adjusted mutation rates (AAMRs) in 61 women and 61 men from the Utah CEPH (Centre d'Etude du Polymorphisme Humain) families were determined.

Detection of Chemical Warfare Agents by Colorimetric Sensor Arrays.

We report the successful use of colorimetric arrays to identify chemical warfare agents (CWAs). Methods were developed to interpret and analyze a 73-indicator array with an entirely automated workflow. Using a cross-validated first-nearest-neighbor algorithm for assessing detection and identification performances on 632 exposures, at 30 min postexposure we report, on average, 78% correct chemical identification, 86% correct class-level identification, and 96% correct red light/green light (agent versus non-agent) detection.

Stepping Activity in Children With Congenital Myotonic Dystrophy.

Purpose: The purpose of this study was to investigate the physical activity levels in children with congenital myotonic dystrophy (CDM), and to examine whether patient clinical and functional characteristics correlated to physical activity.

Methods: Twenty-five children with CDM were assessed on functional measures, clinical measures, and physical activity levels.

Results: Results support that children with CDM spend the majority of their time inactive.

Modified dynamic gait index and limits of stability in myotonic dystrophy type 1.

Introduction: The purpose of this study was to describe and compare the performance of balance and walking tests in relation to self-reported fall history in adults with myotonic dystrophy type 1 (DM1).

Methods: Twenty-two (13 male) participants with DM1 completed, a 6-month fall history questionnaire, the modified Dynamic Gait Index (mDGI), limits of stability (LoS) testing, and 10-m walking tests.

Results: Mean (SD) falls in 6 months was 3.

Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy.

Introduction: Herein we present an exploratory study of orofacial function in children with congenital myotonic dystrophy (CDM) vs. healthy controls.

Methods: We evaluated 41 children with CDM and 29 healthy controls for speech and swallow function and for lingual and labial strength.

Physical function and mobility in children with congenital myotonic dystrophy.

Introduction: Congenital myotonic dystrophy (CDM) occurs when symptoms of myotonic dystrophy present at birth. In this study we evaluated the relationship between physical function, muscle mass, and age to provide an assessment of the disease and help prepare for therapeutic trials.

Methods: CDM participants performed timed functional tests (TFTs), the first 2 minutes of 6-minute walk tests (2/6MWTs), and myometry tests, and also performed dual-energy X-ray absorption (DEXA) scans.

Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study.

Objective: Herein, we describe the disease burden and age-related changes of congenital-onset myotonic dystrophy (CDM) in childhood.

Methods: Children with CDM and age-matched controls aged 0 to 13 years were enrolled. Participants were divided into cohorts based on the following age groups: 0-2, 3-6, and 7-13 years.

Studies of the suitability of fowlpox as a decontamination and thermal stability simulant for variola major.

Variola major, the causative agent of smallpox, has been eradicated from nature. However, stocks still exist; thus, there is a need for relevant decontamination studies, preferably with nonpathogenic simulants. Previous studies have shown a similarity in response of vaccinia virus and variola major to various decontaminants and thermal inactivation.

The first propeller domain of LRP6 regulates sensitivity to DKK1.

The Wnt coreceptor LRP6 is required for canonical Wnt signaling. To understand the molecular regulation of LRP6 function, we generated a series of monoclonal antibodies against the extra cellular domain (ECD) of LRP6 and selected a high-affinity mAb (mAb135) that recognizes cell surface expression of endogenous LRP6. mAb135 enhanced Wnt dependent TCF reporter activation and antagonized DKK1 dependent inhibition of Wnt3A signaling, suggesting a role in modulation of LRP6 function.

R-Spondin family members regulate the Wnt pathway by a common mechanism.

The R-Spondin (RSpo) family of secreted proteins is implicated in the activation of the Wnt signaling pathway. Despite the high structural homology between the four members, expression patterns and phenotypes in knockout mice have demonstrated striking differences. Here we dissected and compared the molecular and cellular function of all RSpo family members.

R-Spondin1 regulates Wnt signaling by inhibiting internalization of LRP6.

The R-Spondin (RSpo) family of secreted proteins act as potent activators of the Wnt/beta-catenin signaling pathway. We have previously shown that RSpo proteins can induce proliferative effects on the gastrointestinal epithelium in mice. Here we provide a mechanism whereby RSpo1 regulates cellular responsiveness to Wnt ligands by modulating the cell-surface levels of the coreceptor LRP6.

Human cytomegalovirus uracil DNA glycosylase associates with ppUL44 and accelerates the accumulation of viral DNA.

Background: Human cytomegalovirus UL114 encodes a uracil-DNA glycosylase homolog that is highly conserved in all characterized herpesviruses that infect mammals. Previous studies demonstrated that the deletion of this nonessential gene delays significantly the onset of viral DNA synthesis and results in a prolonged replication cycle. The gene product, pUL114, also appears to be important in late phase DNA synthesis presumably by introducing single stranded breaks.

Overestimation of heights in virtual reality is influenced more by perceived distal size than by the 2-D versus 3-D dimensionality of the display.

One important aspect of the pictorial representation of a scene is the depiction of object proportions. Yang, Dixon, and Proffitt (1999 Perception 28 445-467) recently reported that the magnitude of the vertical-horizontal illusion was greater for vertical extents presented in three-dimensional (3-D) environments compared to two-dimensional (2-D) displays. However, because all of the 3-D environments were large and all of the 2-D displays were small, the question remains whether the observed magnitude differences were due solely to the dimensionality of the displays (2-D versus 3-D) or to the perceived distal size of the extents (small versus large).