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Biomedical subjects

Steve Wilson

Publications and source records attributed to Steve Wilson.

12 recordsLinked to original sources
PubMed2006

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing in a family with congenital cataracts, hypogonadism, and mild mental retardation (Martsolf syndrome). Recently, mutations in the catalytic subunit of RAB3GAP (RAB3GAP1), a key regulator of calcium-mediated hormone and neurotransmitter exocytosis, were reported in Warburg micro syndrome, a severe neurodevelopmental condition with overlapping clinical features. RAB3GAP is a heterodimeric protein that consists of a catalytic subunit and a noncatalytic subunit encoded by RAB3GAP1 and RAB3GAP2, respectively. We performed messenger RNA-expression studies of RAB3GAP1 and RAB3GAP2 orthologues in Danio rerio embryos and demonstrated that, whereas developmental expression of rab3gap1 was generalized (similar to that reported elsewhere in mice), rab3gap2 expression was restricted to the central nervous system. These findings are consistent with RAB3GAP2 having a key role in neurodevelopment and may indicate that Warburg micro and Martsolf syndromes represent a spectrum of disorders. However, we did not detect RAB3GAP2 mutations in patients with Warburg micro syndrome. These findings suggest that RAB3GAP dysregulation may result in a spectrum of phenotypes that range from Warburg micro syndrome to Martsolf syndrome.

Abnormalities, Multiple↗
PubMed2006

A consensus on fungal polymerase chain reaction diagnosis?: a United Kingdom-Ireland evaluation of polymerase chain reaction methods for detection of systemic fungal infections.

The limitations of classical diagnostic methods for invasive fungal infections (IFIs) have led to the development of molecular techniques to aid in the detection of IFIs. Despite good published performance, interlaboratory reproduction of these assays is variable, and no consensus has been reached for an optimal method. This publication describes the first multicenter study of polymerase chain reaction methods, for the detection of Aspergillus and Candida species, currently used in the UK and Ireland by distribution and analysis of multiple specimen control panels. All three Candida methods were comparable, achieving a satisfactory level of detection (10 cfu), and the method of preference was dependent on the requirements of the particular laboratory. The results for the five Aspergillus assays were more variable, but two methods (2Asp and 4Asp) were superior (10(1) conidia). Formally, the overall performances of the two Aspergillus assays were comparable (kappa statistic = 0.77). However, on the Roche LightCycler, there was a clear sample-type effect that greatly reduced the detection limit of the 4Asp method when testing whole blood samples. Therefore, the preferred Aspergillus method relied on the amplification platform available to the user. This study represents the initial process to achieve a consensus method for the diagnosis of IFIs.

Aspergillosis↗
PubMed2005

The design and implementation of the immune epitope database and analysis resource.

Epitopes are defined as parts of antigens interacting with receptors of the immune system. Knowledge about their intrinsic structure and how they affect the immune response is required to continue development of techniques that detect, monitor, and fight diseases. Their scientific importance is reflected in the vast amount of epitope-related information gathered, ranging from interactions between epitopes and major histocompatibility complex molecules determined by X-ray crystallography to clinical studies analyzing correlates of protection for epitope based vaccines. Our goal is to provide a central resource capable of capturing this information, allowing users to access and connect realms of knowledge that are currently separated and difficult to access. Here, we portray a new initiative, "The Immune Epitope Database and Analysis Resource." We describe how we plan to capture, structure, and store this information, what query interfaces we will make available to the public, and what additional predictive and analytical tools we will provide.

Animals↗
PubMed2005

Computerized reminders to improve isolation rates of patients with drug-resistant infections: design and preliminary results.

Infections with multi-drug resistant organisms (MDROs) are a steadily increasing threat to inpatients as they move through the hospital. We constructed a computerized reminder system, integrated with existing data sources maintained by the infection control service. We tested the hypothesis that computerized reminders from a centralized infection control expert system can improve rates of barrier isolation in patients with MDROs. Immediately after institution of this reminder system, isolation of eligible ward patients increased from a baseline rate of 33% to 95% (p<0.0001). The median time to isolation decreased from 16.6 hours to 0 hours, indicating that the majority of patients post-intervention had isolation orders written prior to arrival on the ward. We conclude that a computerized reminder system can dramatically increase the clinical impact of data sources maintained by hospital Infection Control services.

Drug Resistance, Multiple↗
PubMed2004

Effect of inspiratory flow on methacholine challenge in children.

Regulation of inspiratory flow alters the outcomes of the methacholine (MHC) challenge in adults and cough receptor sensitivity in children. The effect of inspiratory flow on the reproducibility of the MHC challenge in children is unknown. The aim of this study was to evaluate the effect of inspiratory flow alteration on the repeatabilty of the MHC challenge in children with and without asthma. Twenty-five children undertook the MHC challenge on three different days by using a dosimeter connected to a setup that allowed regulation of inspiratory flow and pattern. Children were randomized to commence the challenges at 20 or 60 L/min, and the last challenge was performed at 20 L/min. The within-subject standard deviation, 95% range for change, and doubling dose for the differing inspiratory flow (20 vs. 60 L/min) was more than twice that of when inspiratory flow was maintained at 20 L/min for both occasions. The range of the "limits of agreement" of the Bland and Altman plot was smaller when inspiratory flow was constant. For short-term comparative individual studies in children, inspiratory flow should be regulated. Laboratories and research measuring change in airway hyperrepsonsiveness to MHC should determine and report reproducibility indices of the challenge so airway hyperresponsiveness changes can be interpreted meaningfully.

Adolescent↗
PubMed2004

Asthma disease management: regression to the mean or better?

OBJECTIVES: To assess the effectiveness of disease management as an adjunct to treatment for chronic illnesses, such as asthma, and to evaluate whether the statistical phenomenon of regression to the mean is responsible for many of the benefits commonly attributed to disease management. STUDY DESIGN: This study evaluated an asthma disease management intervention in a Colorado population covered by Medicaid. The outcomes are presented with the intervention group serving as its own control (baseline and postintervention measurements) and are compared with a matched control group during the same periods. METHODS: In the intervention group, 388 asthmatics entered and 258 completed the 6-month program; 446 subjects participated in the control group. Facilities charges were compared for both groups during the baseline and program periods. Both groups were well matched demographically and for costs at baseline. RESULTS: Using the intervention group as its own control revealed a 49.1% savings. The control group savings were 30.7%. Therefore, the net savings were 18.4% (P < .001) for the intervention group vs controls. Although the demonstrated savings were less using a control group to correct for regression to the mean, they were statistically significant and clinically relevant. CONCLUSION: When using a control group to control for the statistical effects of regression to the mean, a disease management intervention for asthma in a population covered by Medicaid is effective in reducing healthcare costs.

Adolescent↗