All-Optical Ultrafast Control and Read-Out of a Single Negatively Charged Self-Assembled InAs Quantum Dot

We demonstrate the all-optical ultrafast manipulation and read-out of optical transitions in a single negatively charged self-assembled InAs quantum dot, an important step towards ultrafast control of the resident spin. Experiments performed at zero magnetic field show the excitation and decay of the trion (negatively charged exciton) as well as Rabi oscillations between the electron and trion states. Application of a DC magnetic field perpendicular to the growth axis of the dot enables observation of a complex quantum beat structure produced by independent precession of the ground state electron and the excited state heavy hole spins

Persistent optical nuclear spin narrowing in a singly charged InAs quantum dot

We review the investigation of the hole-assisted dynamical nuclear spin polarization mechanism in a singly charged InAs quantum dot. Using coherent dark state spectroscopy, we measure the locking of the Overhauser field to a value determined only by the laser frequencies. Importantly, we review data that the locking effect can suppress nuclear spin fluctuations. We determine the onset time of the nuclear spin narrowing effect and its persistence absent laser interactions by directly measuring the enhancement of the electron spin coherence. This nuclear field locking effect can be explained in terms of an anisotropic hyperfine coupling between the hole spin and the nuclear spins. © 2012 Optical Society of America.published_or_final_versio

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

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Evaluation of color stability of different temporary restorative materials

AbstractIntroductionTemporary restorative materials are widely used, however, little is know about their color stability.Objectiveto evaluate the color stability of the following temporary restorative materials: acrylic and bis-acrylic resins after immersion in pigmenting solutions for different periods of storage.Material and methodFour materials were tested (Dêncor/Clássico, Protemp 4/3M ESPE; Structur 2 SC/Voco; Luxatemp AM Plus/DMG) and 30 test specimens (15 mm in diameter and 2 mm thick) per material were fabricated. They were divided according to the storage medium (artificial saliva, saliva + cola type soda, and saliva + coffee) and storage time intervals (2, 5, 7 and 15 days). Color measurements were made before and after immersions, with use of a spectrophotometer, by means of the CIE L*a*b* system. The data were analyzed by the analysis of variance and the Tukey Test, at a level of significance of 5%.ResultAcrylic resin presented greater color stability in comparison with bis-acrylic resins (p<0.001). When bis-acrylic resins were compared no significant difference was observed between the resins Structur and Luxatemp (p=0.767). As regards solutions tested, coffee showed the highest color change values (p<0.001), and the longer the storage time interval, the greater was the color change in all the temporary restorative materials analyzed (p<0.001).ConclusionAcrylic resin presented greater color stability in comparison with bis-acrylic resins (p<0.001). Coffee caused the greatest color change, and immersion time was determinant in color stability of the temporary materials analyzed

Coherent Population Trapping of an Electron Spin in a Single Negatively Charged Quantum Dot

Coherent population trapping (CPT) refers to the steady-state trapping of population in a coherent superposition of two ground states which are coupled by coherent optical fields to an intermediate state in a three-level atomic system. Recently, CPT has been observed in an ensemble of donor bound spins in GaAs and in single nitrogen vacancy centers in diamond by using a fluorescence technique. Here we report the demonstration of CPT of an electron spin in a single quantum dot (QD) charged with one electron.Comment: to be appeared in Nature Physic

Fine mapping of the 9q31 Hirschsprung’s disease locus

Hirschsprung’s disease (HSCR) is a congenital disorder characterised by the absence of ganglia along variable lengths of the intestine. The RET gene is the major HSCR gene. Reduced penetrance of RET mutations and phenotypic variability suggest the involvement of additional modifying genes in the disease. A RET-dependent modifier locus was mapped to 9q31 in families bearing no coding sequence (CDS) RET mutations. Yet, the 9q31 causative locus is to be identified. To fine-map the 9q31 region, we genotyped 301 tag-SNPs spanning 7 Mb on 137 HSCR Dutch trios. This revealed two HSCR-associated regions that were further investigated in 173 Chinese HSCR patients and 436 controls using the genotype data obtained from a genome-wide association study recently conducted. Within one of the two identified regions SVEP1 SNPs were found associated with Dutch HSCR patients in the absence of RET mutations. This ratifies the reported linkage to the 9q31 region in HSCR families with no RET CDS mutations. However, this finding could not be replicated. In Chinese, HSCR was found associated with IKBKAP. In contrast, this association was stronger in patients carrying RET CDS mutations with p = 5.10 × 10−6 [OR = 3.32 (1.99, 5.59)] after replication. The HSCR-association found for IKBKAP in Chinese suggests population specificity and implies that RET mutation carriers may have an additional risk. Our finding is supported by the role of IKBKAP in the development of the nervous system

Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study

BACKGROUND: Chronic inflammation and autoimmunity likely contribute to the pathogenesis of abdominal aortic aneurysms (AAAs). The aim of this study was to investigate the role of autoimmunity in the etiology of AAAs using a genetic association study approach with HLA polymorphisms. METHODS: HLA-DQA1, -DQB1, -DRB1 and -DRB3-5 alleles were determined in 387 AAA cases (180 Belgian and 207 Canadian) and 426 controls (269 Belgian and 157 Canadian) by a PCR and single-strand oligonucleotide probe hybridization assay. RESULTS: We observed a potential association with the HLA-DQA1 locus among Belgian males (empirical p = 0.027, asymptotic p = 0.071). Specifically, there was a significant difference in the HLA-DQA1*0102 allele frequencies between AAA cases (67/322 alleles, 20.8%) and controls (44/356 alleles, 12.4%) in Belgian males (empirical p = 0.019, asymptotic p = 0.003). In haplotype analyses, marginally significant association was found between AAA and haplotype HLA-DQA1-DRB1 (p = 0.049 with global score statistics and p = 0.002 with haplotype-specific score statistics). CONCLUSION: This study showed potential evidence that the HLA-DQA1 locus harbors a genetic risk factor for AAAs suggesting that autoimmunity plays a role in the pathogenesis of AAAs

Fine Mapping of the NRG1 Hirschsprung's Disease Locus

The primary pathology of Hirschsprung's disease (HSCR, colon aganglionosis) is the absence of ganglia in variable lengths of the hindgut, resulting in functional obstruction. HSCR is attributed to a failure of migration of the enteric ganglion precursors along the developing gut. RET is a key regulator of the development of the enteric nervous system (ENS) and the major HSCR-causing gene. Yet the reduced penetrance of RET DNA HSCR-associated variants together with the phenotypic variability suggest the involvement of additional genes in the disease. Through a genome-wide association study, we uncovered a ∼350 kb HSCR-associated region encompassing part of the neuregulin-1 gene (NRG1). To identify the causal NRG1 variants contributing to HSCR, we genotyped 243 SNPs variants on 343 ethnic Chinese HSCR patients and 359 controls. Genotype analysis coupled with imputation narrowed down the HSCR-associated region to 21 kb, with four of the most associated SNPs (rs10088313, rs10094655, rs4624987, and rs3884552) mapping to the NRG1 promoter. We investigated whether there was correlation between the genotype at the rs10088313 locus and the amount of NRG1 expressed in human gut tissues (40 patients and 21 controls) and found differences in expression as a function of genotype. We also found significant differences in NRG1 expression levels between diseased and control individuals bearing the same rs10088313 risk genotype. This indicates that the effects of NRG1 common variants are likely to depend on other alleles or epigenetic factors present in the patients and would account for the variability in the genetic predisposition to HSCR

Association between Catechol-O-Methyltrasferase Val108/158Met Genotype and Prefrontal Hemodynamic Response in Schizophrenia

BACKGROUND:"Imaging genetics" studies have shown that brain function by neuroimaging is a sensitive intermediate phenotype that bridges the gap between genes and psychiatric conditions. Although the evidence of association between functional val108/158met polymorphism of the catechol-O-methyltransferase gene (COMT) and increasing risk for developing schizophrenia from genetic association studies remains to be elucidated, one of the most topical findings from imaging genetics studies is the association between COMT genotype and prefrontal function in schizophrenia. The next important step in the translational approach is to establish a useful neuroimaging tool in clinical settings that is sensitive to COMT variation, so that the clinician could use the index to predict clinical response such as improvement in cognitive dysfunction by medication. Here, we investigated spatiotemporal characteristics of the association between prefrontal hemodynamic activation and the COMT genotype using a noninvasive neuroimaging technique, near-infrared spectroscopy (NIRS). METHODOLOGY/PRINCIPAL FINDINGS:Study participants included 45 patients with schizophrenia and 60 healthy controls matched for age and gender. Signals that are assumed to reflect regional cerebral blood volume were monitored over prefrontal regions from 52-channel NIRS and compared between two COMT genotype subgroups (Met carriers and Val/Val individuals) matched for age, gender, premorbid IQ, and task performance. The [oxy-Hb] increase in the Met carriers during the verbal fluency task was significantly greater than that in the Val/Val individuals in the frontopolar prefrontal cortex of patients with schizophrenia, although neither medication nor clinical symptoms differed significantly between the two subgroups. These differences were not found to be significant in healthy controls. CONCLUSIONS/SIGNIFICANCE:These data suggest that the prefrontal NIRS signals can noninvasively detect the impact of COMT variation in patients with schizophrenia. NIRS may be a promising candidate translational approach in psychiatric neuroimaging