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Diastrophic dysplasia (DTD) is a well-characterized autosomal recessive osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. The disease occurs in most populations, but is particularly prevalent in Finland owing to an apparent founder effect. DTD maps to distal chromosome 5q and, based on(More)
Linkage disequilibrium mapping in isolated populations provides a powerful tool for fine structure localization of disease genes. Here, Luria and Delbrück's classical methods for analysing bacterial cultures are adapted to the study of human isolated founder populations in order to estimate (i) the recombination fraction between a disease locus and a(More)
Non-insulin dependent diabetes mellitus (NIDDM) affects more than 100 million people worldwide and is associated with severe metabolic defects, including peripheral insulin resistance, elevated hepatic glucose production, and inappropriate insulin secretion. Family studies point to a major genetic component, but specific susceptibility genes have not yet(More)
Atherosclerotic disease of the renal artery can lead to reduction in arterial caliber and ultimately to conditions including renovascular hypertension. Renal artery stenosis is conventionally assessed, using angiography, according to the severity of the stenosis. However, the severity of a stenosis is not a reliable indicator of functional significance, or(More)
BACKGROUND Pulmonary contusion (PC) is a common injury associated with blunt chest trauma. Complications such as pneumonia and adult respiratory distress syndrome (ARDS) occur in up to 50% of patients with PC. The ability to predict which PC patients are at increased risk of developing complications would be of tremendous clinical utility. In this study, we(More)
UNLABELLED Acetabular dysplasia is a precursor to osteoarthritis of the hip, and it causes acute and degenerative injuries of soft tissue stabilizers. Traditional radiographic assessments of dysplasia are useful in moderate and severe dysplasia, but they have questionable reliability in mild dysplasia. Computed tomography (CT) reconstruction provides a(More)
An estimated 1.7 million people in the United States sustain a traumatic brain injury (TBI) annually. To investigate the effects of rotational motions on TBI risk and location, this study modeled rotational velocities of five magnitudes and 26 directions of rotation using the Simulated Injury Monitor finite element brain model. The volume fraction of the(More)
The growing elderly population in the United States presents medical, engineering, and legislative challenges in trauma management and prevention. Thoracic injury incidence, morbidity, and mortality increase with age. This study utilized receiver-operator characteristic analysis to identify the quantitative age thresholds associated with increased mortality(More)
In military, automotive, and sporting safety, there is concern over eye protection and the effects of facial anthropometry differences on risk of eye injury. The objective of this study is to investigate differences in orbital geometry and analyze their effect on eye impact injury. Clinical measurements of the orbital aperture, brow protrusion angle, eye(More)
Highly coupled newt lung ciliated cell models were used to study the effects of MgATP concentration on ciliary beat frequency and waveform. Models were prepared from ciliated lung cells of the newt Taricha granulosa by trypsin dissociation of the epithelium, demembranation with Triton X-100, and reactivation with MgATP, as described previously [Weaver and(More)