5 research outputs found

    Background-free detection of trapped ions

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    We demonstrate a Doppler cooling and detection scheme for ions with low-lying D levels which almost entirely suppresses scattered laser light background, while retaining a high fluorescence signal and efficient cooling. We cool a single ion with a laser on the 2S1/2 to 2P1/2 transition as usual, but repump via the 2P3/2 level. By filtering out light on the cooling transition and detecting only the fluorescence from the 2P_3/2 to 2S1/2 decays, we suppress the scattered laser light background count rate to 1 per second while maintaining a signal of 29000 per second with moderate saturation of the cooling transition. This scheme will be particularly useful for experiments where ions are trapped in close proximity to surfaces, such as the trap electrodes in microfabricated ion traps, which leads to high background scatter from the cooling beam

    Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients

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    OBJECTIVE Head and neck paragangliomas (HNPGL) are associated with mutations in genes encoding subunits of succinate dehydrogenase (SDH). The aim of this study was to evaluate SDH mutations, family history and phenotypes of patients with HNPGL in the Netherlands. DESIGN We evaluated the clinical data and the mutation status of 236 patients referred between 1950 and 2009 to Leiden University Medical Center. RESULTS The large majority of the patients carried mutations in SDHD (83%), and the p.Asp92Tyr Dutch founder mutation in SDHD alone accounted for 72% of all patients with HNPGL. A mutation in SDHAF2 was found in 4%, mutations in SDHB in 3% and a mutation in SDHC was identified in a single patient (0·4%). Over 80% of patients presented with positive family history, of whom 99·5% carried a mutation in an SDH gene. SDH mutations were also found in 56% of isolated patients, chiefly in SDHD (46%), but also in SDHB (8%) and SDHC (2%). The clinical parameters of these different subgroups are discussed: including the age at diagnosis, associated pheochromocytomas, tumour multifocality and malignancy rate. CONCLUSION The majority of Dutch patients with HNPGL present with a positive family history, in contrast to other European countries. The clinical characteristics of patients with HNPGL are chiefly determined by founder mutations in SDHD, the major causative gene in both familial and isolated patients with HNPGL. The high frequency of founder mutations in SDHD suggests a higher absolute prevalence of paraganglioma syndrome in the Netherlands.Hereditary cancer genetic
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