Most lipomas are characterized by translocations involving the HMGA2 gene in 12q14.3. These rearrangements lead to the fusion of HMGA2 with an ectopic sequence from the translocation chromosome partner. Only five fusion partners of HMGA2 have been identified in lipomas so far. The identification of novel fusion partners of HMGA2 is important not only for diagnosis in soft tissue tumors but also...

Members of eight Saskatchewan families with fragile (X) X-linked mental retardation were studied in an attempt to relate frequency to age and intelligence. The mean IQ of 37 affected men was 35 (range 10-66). The mean IQ of 32 carriers was 88 (range 57-119), and the mean IQ of 13 females who remain at risk for being carriers, have no affected sons, and who failed to demonstrate the fra(X) was 1...

3-Methylcrotonyl-CoA: carboxylase (EC 6.4.1.4; MCC) deficiency is an inborn error of the leucine degradation pathway (MIM *210200) characterized by increased urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. The clinical phenotypes are highly variable ranging from asymptomatic to profound metabolic acidosis and death in infancy. Sequence similarity with Glycine max and ...

This paper analyzes the effects of pollution control regulation on input markets. Under Title IV of the 1990 Clean Air Act Amendments, sulfur dioxide emissions from large coal-fired electric power plants in the United States are regulated by a cap-and-trade system. We address the question of who gained from from Title IV. We first show that Phase I of the tradeable permits program, from 1995 to...

Title IV of the 1990 Clean Air Act Amendments introduced a cap-and-trade system for sulfur dioxide emissions from electric power plants in the United States. This paper analyzes the effects of that regulatory change on the prices charged by the two railroads that hauled low-sulfur coal east from Wyoming. We estimate the effect of the tradeable permits regime by comparing prices at affected plan...

n recent years several leukemia-specific cyto-genetic abnormalities have been identified and the related molecular lesions characterized. 1 These include, among others: t(15;17) (q23;q21) with PML/RAR␣ fusion gene; t(8;21) (q22;q22) with AML1/ETO chimeric gene; inv(16) with CBFb/MYH11 hybrid gene; 11q23 translocations with MLL gene lesions, and t(5;9)(q21;q28) with DEK/CAN chimeric gene. Studie...

Introduction: PET-adapted ABVD with deferred intensification is the favored therapy for most patients advanced Hodgkin Lymphoma (HL), while upfront (‘first hit’) escBEACOPP remains an option in high-risk disease. These strategies are challenged by brentuximab vedotin (BV)-based AVD regimen due to superior outcomes versus ABVD. The FIL-Rouge trial (NCT03159897) was designed implement ‘first-hit’...

This study investigates how access to political endorsements affects stated preferences for an environmental public good in Switzerland. We developed a contingent valuation survey questionnaire with two valuation questions, the first formulated as a (hypothetical) policy referendum, the second an open-ended WTP question. For the referendum question we solicited endorsements from a range of poli...

A newly developed method of comparative genomic hybridization (CGH) employing quantitative statistical comparisons was applied to DNA from two different types of advanced prostate cancer tissue. Multiple CGH analyses were obtained for each chromosome in each tumor, and the results of point-by-point comparison of the mean tumor:normal color ratio to a control normal:normal color ratio in each of...

.......................................................................................................................................................... 8 INTRODUCTION ................................................................................................................................................. 9 REVIEW OF THE LITERATURE .........................................................