Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8.

Cerebral creatine deficiency syndromes (CCDS) are rare inherited metabolic disorders caused by defective biosynthesis or transport of creatine. These conditions are characterized by reduced accumulation of creatine in the brain, mild to severe intellectual disability, global developmental delay, and speech-language disorders. The amount of brain creatine reduction needed to cause symptoms is not known.

T-RAC: Study protocol of a randomised clinical trial for assessing the acceptability and preliminary efficacy of adding an exergame-augmented dynamic imagery intervention to the behavioural activation treatment of depression.

Background: Improving the existent effective treatments of depression is a promising way to optimise the effects of psychological treatments. Here we examine the effects of adding a rehabilitation type of imagery based on exergames and dynamic simulations to a short behavioural activation treatment of depression. We investigate the acceptability and the efficacy of an exergame-augmented dynamic imagery intervention added to behavioural activation treatment and associated mechanisms of change.

Clinical scope and healthcare utilization in childhood interstitial lung disease at a tertiary center.

Childhood interstitial lung disease (chILD) is a heterogeneous group of diffuse lung diseases that can be challenging to diagnose. With relative rarity of individual entities, data are limited on disease prevalence, care patterns, and healthcare utilization. The objective of this study was to evaluate chILD prevalence and review diagnostic and clinical care patterns at our center.

The US national registry for childhood interstitial and diffuse lung disease: Report of study design and initial enrollment cohort.

Introduction: Childhood interstitial and diffuse lung disease (chILD) encompasses a broad spectrum of rare disorders. The Children's Interstitial and Diffuse Lung Disease Research Network (chILDRN) established a prospective registry to advance knowledge regarding etiology, phenotype, natural history, and management of these disorders.

Methods: This longitudinal, observational, multicenter registry utilizes single-IRB reliance agreements, with participation from 25 chILDRN centers across the U.

Positive irrational beliefs are associated with hypomanic personality.

Primary irrational beliefs, such as demanding about attaining personal goals, are a common trans-diagnostic factor involved in many emotional disorders. Although Bipolar Disorder (BPD) is a severe emotional disorder, little is known about the role of primary irrational beliefs in the risk of BPD. Given that the risk for mania is related to responses to positive rather than adverse events, we developed a measure of irrational beliefs in response to cues of positive events.

Asymmetric organelle positioning during epithelial polarization of C. elegans intestinal cells.

While the epithelial cell cortex displays profound asymmetries in protein distribution and morphology along the apico-basal axis, the extent to which the cytoplasm is similarly polarized within epithelial cells remains relatively unexplored. We show that cytoplasmic organelles within C. elegans embryonic intestinal cells develop extensive apico-basal polarity at the time they establish cortical asymmetry.

An ABCG Transporter Functions in Rab Localization and Lysosome-Related Organelle Biogenesis in .

ABC transporters couple ATP hydrolysis to the transport of substrates across cellular membranes. This protein superfamily has diverse activities resulting from differences in their cargo and subcellular localization. Our work investigates the role of the ABCG family member WHT-2 in the biogenesis of gut granules, a lysosome-related organelle.

Function and regulation of the Caenorhabditis elegans Rab32 family member GLO-1 in lysosome-related organelle biogenesis.

Cell type-specific modifications of conventional endosomal trafficking pathways lead to the formation of lysosome-related organelles (LROs). C. elegans gut granules are intestinally restricted LROs that coexist with conventional degradative lysosomes.

UHMWPE Sublaminar Wires in Posterior Spinal Instrumentation: Stability and Biocompatibility Assessment in an Ovine Pilot Study.

Study Design: An animal study.

Objective: To explore ultra-high molecular weight polyethylene (UHMWPE) sublaminar wires in spinal surgery and to assess stability and biocompatibility of the UHMWPE instrumentation in an ovine model.

Summary Of Background Data: Sublaminar wiring is a well-established technique in segmental scoliosis surgery.

A highly radiopaque vertebroplasty cement using tetraiodinated o-carborane additive.

Bone cements for vertebroplasty must have a much better radiocontrast level than cements for knee or hip arthroplasty. This is generally accomplished by adding a relatively large portion of BaSO(4), although this affects the physical-mechanical and biological properties of the cement. This prompted us to develop an alternative radiopaque cement, on the basis of unique highly radiopaque methacrylic microspheres.

Evaluation of three automated genome annotations for Halorhabdus utahensis.

Genome annotations are accumulating rapidly and depend heavily on automated annotation systems. Many genome centers offer annotation systems but no one has compared their output in a systematic way to determine accuracy and inherent errors. Errors in the annotations are routinely deposited in databases such as NCBI and used to validate subsequent annotation errors.

Valid treatment options for osteoporosis and osteopenia in HIV-infected persons.

Objective: To review clinical data on bone ossification agents that may be considered for use in the treatment of osteoporosis and osteopenia in HIV-infected patients.

Data Sources: A literature search was performed using MEDLINE (1950-January 2008), EMBASE, PubMed, and abstracts from major HIV conferences (February 2001-October 2007). These searches were limited to human data published in English and used the key words bisphosphonates, calcitonin, raloxifene, teriparatide, HAART, osteopenia, osteoporosis, and HIV/AIDS.

Nucleation of bulk phases in the HCl/H2O system.

We report experimental results on the low-temperature uptake of HCl on H(2)O ice (ice). HCl was deposited on the surface at greater than monolayer amounts at 85 K, and the ice substrate was heated. The temperature dependence of the HCl vapor pressure from this phase was measured from 110 to 150 K, with the nucleation of a bulk hydrate phase observed at 150 K.

Competition between atmospherically relevant fatty acid monolayers at the air/water interface.

Competition and oxidation of fatty acids spread at the air/water interface were investigated using surface-specific, broad-bandwidth, sum frequency generation spectroscopy. At the air/water interface, a monolayer of oleic acid replaced a monolayer of deuterated palmitic acid at equilibrium spreading pressure. Subsequent oxidation of the oleic acid monolayer with ozone resulted in products more water soluble than the palmitic acid; therefore, the palmitic acid monolayer reformed at the surface.