University of North Carolina at Chapel Hill

About: University of North Carolina at Chapel Hill is a education organization based out in Chapel Hill, North Carolina, United States. It is known for research contribution in the topics: Population & Poison control. The organization has 81393 authors who have published 185327 publications receiving 9948508 citations. The organization is also known as: University of North Carolina & North Carolina.

ClinGen — The Clinical Genome Resource

Abstract: On autopsy, a patient is found to have hypertrophic cardiomyopathy The patient’s family pursues genetic testing that shows a “likely pathogenic” variant for the condition on the basis of a study in an original research publication Given the dominant inheritance of the condition and the risk of sudden cardiac death, other family members are tested for the genetic variant to determine their risk Several family members test negative and are told that they are not at risk for hypertrophic cardiomyopathy and sudden cardiac death, and those who test positive are told that they need to be regularly monitored for cardiomyopathy on echocardiography Five years later, during a routine clinic visit of one of the genotype-positive family members, the cardiologist queries a database for current knowledge on the genetic variant and discovers that the variant is now interpreted as “likely benign” by another laboratory that uses more recently derived population-frequency data A newly available testing panel for additional genes that are implicated in hypertrophic cardiomyopathy is initiated on an affected family member, and a different variant is found that is determined to be pathogenic Family members are retested, and one member who previously tested negative is now found to be positive for this new variant An immediate clinical workup detects evidence of cardiomyopathy, and an intracardiac defibrillator is implanted to reduce the risk of sudden cardiac death

Detection of Breast Cancer With Addition of Annual Screening Ultrasound or a Single Screening MRI to Mammography in Women With Elevated Breast Cancer Risk

Abstract: 0.84(95%CI,0.83-0.85);andPPV3,0.16(95%CI,0.12-0.21).Formammographyalone, sensitivitywas0.52(95%CI,0.40-0.64);specificity,0.91(95%CI,0.90-0.92);andPPV3, 0.38 (95% CI, 0.28-0.49; P.001 all comparisons). Of the MRI participants, 16 women (2.6%) had breast cancer diagnosed. The supplemental yield of MRI was 14.7 per 1000 (95%CI,3.5-25.9;P=.004).SensitivityforMRIandmammographyplusultrasoundwas 1.00 (95% CI, 0.79-1.00); specificity, 0.65 (95% CI, 0.61-0.69); and PPV3, 0.19 (95% CI, 0.11-0.29). For mammography and ultrasound, sensitivity was 0.44 (95% CI, 0.200.70, P=.004); specificity 0.84 (95% CI, 0.81-0.87; P.001); and PPV3, 0.18 (95% CI, 0.08to0.34;P=.98).Thenumberofscreensneededtodetect1cancerwas127(95%CI, 99-167)formammography;234(95%CI,173-345)forsupplementalultrasound;and68 (95% CI, 39-286) for MRI after negative mammography and ultrasound results. Conclusion The addition of screening ultrasound or MRI to mammography in women at increased risk of breast cancer resulted in not only a higher cancer detection yield but also an increase in false-positive findings.

Death Don't Have No Mercy: Cell Death Programs in Plant-Microbe Interactions.

Abstract: A nearly ubiquitous feature of plant-pathogen interactions is host cell death. In its most recognizable form, host cell death is manifested as the rapid collapse of tissue, termed the hypersensitive response (HR). This response accompanies "incompatible interactions" and leads to disease resistance. As detailed below, the HR is programmed genetically in the plant and is a consequence of new host transcription and trans? lation (Dixon et al., 1994; Godiard et al., 1994). The HR is a correlative feature of many but not all incompatible interac? tions controlled by classic disease resistance (R) genes (Dangl, 1995; Staskawicz et al., 1995; see also Bent, 1996, in this is? sue). A local HR is often associated with the onset of systemic acquired resistance (SAR; Chester, 1933; Enyedi et al., 1992; Ryals et al., 1994, 1996, in this issue) in distal plant tissues. In addition, sites of the HR are invariably focal points for tran? scriptional induction of plant defense genes in neighboring cells (Somssich et al., 1988; Schmelzer et al., 1989). Subse? quent biosynthesis of protective secondary metabolites and cell wall buttressing around the HR site are also thought to contribute to overall pathogen containment. Signals derived from cells undergoing the HR apparently contribute signifi? cantly to the induction of defense gene transcription in adjacent cells. However, certain bacterial mutants unable to elicit an HR are still competent to trigger the transcription of defense genes that are normally induced during both incompatible and compatible interactions (Jakobek and Lindgren, 1993). Whether the cell death that constitutes the HR actually causes disease resistance by depriving the incoming patho? gen of nutrients or by releasing microbiocidal compounds from dying cells is unclear. Alternatively, the HR could be the con? sequence of a mechanism that is actually killing both host and microbe cells. In fact, recent evidence discussed below sug? gests that HR cell death is not required to stop pathogen growth in at least some cases (Century et al., 1995; Hammond-Kosack et al., 1996). If this separation of resistance per se and cell death is generalizable, can we glean insight from the mecha? nism by which host cells die that is relevant to the mechanism that kills or stops an invading pathogen?

Nanostructured Tin Catalysts for Selective Electrochemical Reduction of Carbon Dioxide to Formate

Abstract: High surface area tin oxide nanocrystals prepared by a facile hydrothermal method are evaluated as electrocatalysts toward CO2 reduction to formate. At these novel nanostructured tin catalysts, CO2 reduction occurs selectively to formate at overpotentials as low as ∼340 mV. In aqueous NaHCO3 solutions, maximum Faradaic efficiencies for formate production of >93% have been reached with high stability and current densities of >10 mA/cm(2) on graphene supports. The notable reactivity toward CO2 reduction achieved here may arise from a compromise between the strength of the interaction between CO2(•-) and the nanoscale tin surface and subsequent kinetic activation toward protonation and further reduction.