Impact of electrodiagnostic (EMG/NCS) tests on clinical decision-making and patient perceived benefit in the outpatient physical therapy practice.

Background: Utilizing Electromyography and Nerve Conduction Study (EMG/NCS) tests, when indicated, may have implications for efficient patient management and assist in more efficient referral to appropriate providers or specialists.

Objective: To investigate the impact of Electromyography and Nerve Conduction Studies (EMG/NCS) on clinical decision-making and patient perspectives within PT practice settings.

Methods: 462 patients, who were candidates for diagnostic testing (EMG/NCS) were included in this outcome study and questionnaire-based survey design.

Establishment of the Pediatric Obesity Weight Evaluation Registry: A National Research Collaborative for Identifying the Optimal Assessment and Treatment of Pediatric Obesity.

Background: Prospective patient registries have been successfully utilized in several disease states with a goal of improving treatment approaches through multi-institutional collaboration. The prevalence of youth with severe obesity is at a historic high in the United States, yet evidence to guide effective weight management is limited. The Pediatric Obesity Weight Evaluation Registry (POWER) was established in 2013 to identify and promote effective intervention strategies for pediatric obesity.

Cross-Sectional Survey on Newborn Screening in Wisconsin Amish and Mennonite Communities.

Old Order Amish and Mennonites, or Plain populations, are a growing minority in North America with unique health care delivery and access challenges coupled with higher frequencies of genetic disorders. The objective of this study was to determine newborn screening use and attitudes from western Wisconsin Plain communities. A cross-sectional survey, with an overall response rate of 25 %, provided data representing 2010 children.

Laryngotracheal transplantation: technical modifications and functional outcomes.

Objectives/hypothesis: Laryngeal transplantation offers the potential for patients without a larynx to recover their voice, which is critical in our communication age. We report clinical and functional outcomes from a laryngotracheal transplant. Widespread adoption of this technique has been slowed due to the ethical concerns of life-long immunosuppression after a nonvital organ transplant.

Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis.

Variants in mannose-binding lectin (MBL2; protein MBL) have shown association with different aspects (eg, lung function, infection, survival) of cystic fibrosis (CF) in some studies but not others. Inconsistent results may be due to confounding among disease variables that were not fully accounted for in each study. To account for these relationships, we derived a modeling framework incorporating CFTR genotype, age, Pseudomonas aeruginosa (Pa) infection, and lung function from 788 patients in the US CF Twin and Sibling Study.

Identification of novel ciliogenesis factors using a new in vivo model for mucociliary epithelial development.

Mucociliary epithelia are essential for homeostasis of many organs and consist of mucus-secreting goblet cells and ciliated cells. Here, we present the ciliated epidermis of Xenopus embryos as a facile model system for in vivo molecular studies of mucociliary epithelial development. Using an in situ hybridization-based approach, we identified numerous genes expressed differentially in mucus-secreting cells or in ciliated cells.

Confirmation of an association between the TNF(-308) promoter polymorphism and stroke risk in children with sickle cell anemia.

Background And Purpose: The etiology of stroke in children with sickle cell anemia (SCA) is complex and poorly understood. Growing evidence suggests that genetic factors beyond the sickle cell mutation influence stroke risk in SCA. We previously reported risk associations with polymorphisms in several proinflammatory genes in SCA children with ischemic stroke.

Divergent and convergent effects on gene expression and function in acute versus chronic endothelial activation.

Activation of the vascular endothelium with cytokines such as TNF is widely used to study the role of the vasculature in proinflammatory disease. To gain insight into mechanisms of prolonged vascular endothelial activation we compared changes in gene expression induced by continuous activation in stable tmTNF-expressing cells with changes due to acute TNF challenge in vitro. Affymetrix Genechip analysis was performed on RNA from control, acute and continuous TNF-activated endothelial cells.

SPR imaging-based salivary diagnostics system for the detection of small molecule analytes.

Saliva is an underused fluid with considerable promise for biomedical testing. Its potential is particularly great for monitoring small-molecule analytes since these are often present in saliva at concentrations that correlate well with their free levels in blood. We describe the development of a prototype diagnostic device for the rapid detection of the antiepileptic drug (AED) phenytoin in saliva.

Portable 24-analyte surface plasmon resonance instruments for rapid, versatile biodetection.

Field use of surface plasmon resonance (SPR) biosensors for environmental and defense applications such as detection and identification of biological warfare agents has been hampered by lack of rugged, portable, high-performance instrumentation. To meet this need, we have developed compact multi-analyte SPR instruments based on Texas Instruments' Spreeta sensing chips. The instruments weigh 3 kg and are built into clamshell enclosures measuring 28 cm x 22 cm x 13 cm.

Compact, high performance surface plasmon resonance imaging system.

We report the construction and characterization of a new compact surface plasmon resonance imaging instrument. Surface plasmon resonance imaging is a versatile technique for detection, quantification and visualization of biomolecular binding events which have spatial structure. The imager uses a folded light path, wide-field optics and a tilted detector to implement a high performance optical system in a volume 7 in.

Global analysis of gene expression in Xenopus hindlimbs during stage-dependent complete and incomplete regeneration.

Xenopus laevis tadpoles are capable of limb regeneration after amputation, in a process that initially involves the formation of a blastema. However, Xenopus has full regenerative capacity only through premetamorphic stages. We have used the Affymetrix Xenopus laevis Genome Genechip microarray to perform a large-scale screen of gene expression in the regeneration-complete, stage 53 (st53), and regeneration-incomplete, stage 57 (st57), hindlimbs at 1 and 5 days postamputation.

Candidate gene polymorphism in cardiovascular disease: the BIP cohort.

Background: Cardiovascular disease is now well established as a multifactorial disease. In a given individual, the level of cardiovascular risk is due to the interaction between genetic and environmental components. The BIP cohort comprises 3000 patients with cardiovascular disease who were tested for the benefits of bezafibrate treatment.

An examination of non-formalin-based fixation methods for Xenopus embryos.

Despite the growing availability of non-formalin-based fixatives, the vast majority of researchers in developmental biology continue to fix embryos and tissue in 4% paraformaldehyde. This fixation method has proven useful for both immunohistochemistry and in situ hybridization, yet working with paraformaldehyde has distinct disadvantages in its toxicity and the short shelf life of prepared solutions. In a search for viable alternative fixatives, we have evaluated two non-formalin-based commercial products, FineFIX (Milestone Microwave Laboratory System) and NOTOXhisto (Scientific Device Laboratory).

Interaction between metabolic syndrome and PON1 polymorphisms as a determinant of the risk of coronary artery disease.

The enzyme serum paraoxonase plays an important role in antioxidant defences and prevention of atherosclerosis. Metabolic syndrome (MS) is a clinical condition associated with increased oxidant stress and cardiovascular mortality. Two common polymorphisms of serum paraoxonase, PON1 Leu(55)Met and Gln(192)Arg, have been postulated to modulate the cardiovascular risk.

Family-based association analysis implicates IL-4 in susceptibility to Kawasaki disease.

Several compelling lines of evidence suggest an important influence of genetic variation in susceptibility to Kawasaki disease (KD), an acute vasculitis that causes coronary artery aneurysms in children. We performed a family-based genotyping study to test for association between KD and 58 genes involved in cardiovascular disease and inflammation. By analysis of a cohort of 209 KD trios using the transmission disequilibrium test, we documented the asymmetric transmission of five alleles including the interleukin-4 (IL-4) C(-589)T allele (P=0.

Cardiovascular gene expression profiles of dioxin exposure in zebrafish embryos.

2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) is a widespread environmental contaminant that causes altered heart morphology, circulatory impairment, edema, hemorrhage, and early life stage mortality in fish. TCDD toxicity is dependent, in large part, on the aryl hydrocarbon receptor (AHR), but understanding of the molecular mechanism of cardiovascular embryotoxicity remains incomplete. To identify genes potentially involved in cardiovascular effects, we constructed custom cDNA microarrays consisting of 4896 zebrafish adult heart cDNA clones and over 200 genes with known developmental, toxicological and housekeeping roles.

Are common disease susceptibility alleles the same in outbred and founder populations?

Founder populations have been the subjects of complex disease studies because of their decreased genetic heterogeneity, increased linkage disequilibrium and more homogeneous environmental exposures. However, it is possible that disease alleles identified in founder populations may not contribute significantly to susceptibility in outbred populations. In this study we examine the Hutterites, a founder population of European descent, for 103 polymorphisms in 66 genes that are candidates for cardiovascular or inflammatory diseases.

Interaction between smoking and PON2 Ser311Cys polymorphism as a determinant of the risk of myocardial infarction.

Background: Increased oxidative stress is thought to play a role in the pathogenesis of the atherothrombotic process. Paraoxonases (PONs) are closely related antioxidant enzymes encoded by clustered genes on chromosome 7q. We evaluated three PON polymorphisms (PON1 Leu55Met and Gln192Arg; PON2 Ser311Cys) as possible risk factors for coronary atherosclerotic disease (CAD) and/or its main thrombotic complication, myocardial infarction (MI).

Cardiac output monitoring during off-pump coronary artery bypass grafting.

Objective: To evaluate and compare monitors of cardiac output during repositioning and stabilization of the heart for off-pump coronary artery bypass (OPCAB) surgery.

Design: Prospective, observational, clinical study.

Setting: University teaching hospital.

ApoC-III gene polymorphisms and risk of coronary artery disease.

Several polymorphisms in the apolipoprotein C-III (apoC-III) gene have been associated with hypertriglyceridemia, but the link with coronary artery disease risk is still controversial. In particular, apoC-III promoter sequence variants in the insulin responsive element (IRE), constitutively resistant to downregulation by insulin, have never been investigated in this connection. We studied a total of 800 patients, 549 of whom had angiographically documented coronary atherosclerosis, whereas 251 had normal coronary arteriograms.

Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis of common complex disease.

The complexity of recognizing the potential contribution of a number of possible predictors of complex disorders is increasingly challenging with the application of large-scale single nucleotide polymorphism (SNP) typing. In the search for putative genetic factors predisposing to coronary artery restenosis following balloon angioplasty, we determined genotypes for 94 SNPs representing 62 candidate genes, in a prospectively assembled cohort of 342 cases and 437 controls. Using a customized coupled-logistic regression procedure accounting for both additive and interactive effects, we identified seven SNPs in seven genes that, together, showed a statistically significant association with restenosis incidence (P <0.

A common promoter polymorphism in the hepatic lipase gene (LIPC-480C>T) is associated with an increase in coronary calcification in type 1 diabetes.

Type 1 diabetes is associated with coronary heart disease (CHD) and coronary artery calcification (CAC), a measure of subclinical CHD. The hepatic lipase gene promoter polymorphism (LIPC-480C>T) is a common variant affecting lipid metabolism. This study examined the relation between the LIPC-480C>T and CAC in type 1 diabetes.