Observation of interlayer phonon modes in van der Waals heterostructures

We have investigated the vibrational properties of van der Waals heterostructures of monolayer transition metal dichalcogenides (TMDs), specifically MoS2/WSe2 and MoSe2/MoS2 heterobilayers as well as twisted MoS2 bilayers, by means of ultralow-frequency Raman spectroscopy. We discovered Raman features (at 30 ~ 40 cm-1) that arise from the layer-breathing mode (LBM) vibrations between the two incommensurate TMD monolayers in these structures. The LBM Raman intensity correlates strongly with the suppression of photoluminescence that arises from interlayer charge transfer. The LBM is generated only in bilayer areas with direct layer-layer contact and atomically clean interface. Its frequency also evolves systematically with the relative orientation between of the two layers. Our research demonstrates that LBM can serve as a sensitive probe to the interface environment and interlayer interactions in van der Waals materials

A Case of Myotonic Dystrophy With Pigmentary Retinal Changes

A 46-year-old man presented with visual disturbances in both eyes. His best corrected visual acuity was 0.7 (both eyes). Ptosis and limitation of ocular movement in every direction were observed. Slit lamp examination showed a bilateral iridescent cataract. Fundus examination showed peripheral depigmentation of the retinal pigment epithelium and pigmentary clumping in both eyes that agreed with blocked fluorescence and widow defects on fluorescein angiography. The amplitude of b-wave was decreased on electroretinography. Fourteen months later, the patient's best corrected visual acuity decreased to 0.3 due to increased lens opacity. Phacoemulsification and intraocular lens implantation were performed on both eyes. At the patient's final visit, retinal findings were stable with a best corrected visual acuity of 0.7 in both eyes. In conclusion, the visual disturbance could have been caused by both cataracts and retinal degeneration, meaning the fundus should be examined carefully in patients with myotonic dystrophy

Observation of Interlayer Phonon Modes in van der Waals Heterostructures

We have investigated the vibrational properties of van der Waals heterostructures of monolayer transition metal dichalcogenides (TMDs), specifically MoS2/WSe2 and MoSe2/MoS2 heterobilayers and twisted MoS2 bilayers, by means of ultralow-frequency Raman spectroscopy. We discovered Raman features (at 30–40 cm−1) that arise from the layer-breathing mode (LBM) vibration between the two incommensurate TMD monolayers in these structures. The LBM Raman intensity correlates strongly with the suppression of photoluminescence that arises from interlayer charge transfer. The LBM is generated only in bilayer areas with direct layer-layer contact and an atomically clean interface. Its frequency also evolves systematically with the relative orientation between the two layers. Our research demonstrates that the LBM can serve as a sensitive probe to the interface environment and interlayer interactions in van der Waals materials

Elevated urinary CRELD2 is associated with endoplasmic reticulum stress-mediated kidney disease

ER stress has emerged as a signaling platform underlying the pathogenesis of various kidney diseases. Thus, there is an urgent need to develop ER stress biomarkers in the incipient stages of ER stress-mediated kidney disease, when a kidney biopsy is not yet clinically indicated, for early therapeutic intervention. Cysteine-rich with EGF-like domains 2 (CRELD2) is a newly identified protein that is induced and secreted under ER stress. For the first time to our knowledge, we demonstrate that CRELD2 can serve as a sensitive urinary biomarker for detecting ER stress in podocytes or renal tubular cells in murine models of podocyte ER stress-induced nephrotic syndrome and tunicamycin- or ischemia-reperfusion-induced acute kidney injury (AKI), respectively. Most importantly, urinary CRELD2 elevation occurs in patients with autosomal dominant tubulointerstitial kidney disease caused by UMOD mutations, a prototypical tubular ER stress disease. In addition, in pediatric patients undergoing cardiac surgery, detectable urine levels of CRELD2 within postoperative 6 hours strongly associate with severe AKI after surgery. In conclusion, our study has identified CRELD2 as a potentially novel urinary ER stress biomarker with potential utility in early diagnosis, risk stratification, treatment response monitoring, and directing of ER-targeted therapies in selected patient subgroups in the emerging era of precision nephrology

inGAP-sv: a novel scheme to identify and visualize structural variation from paired end mapping data

Mining genetic variation from personal genomes is a crucial step towards investigating the relationship between genotype and phenotype. However, compared to the detection of SNPs and small indels, characterizing large and particularly complex structural variation is much more difficult and less intuitive. In this article, we present a new scheme (inGAP-sv) to detect and visualize structural variation from paired-end mapping data. Under this scheme, abnormally mapped read pairs are clustered based on the location of a gap signature. Several important features, including local depth of coverage, mapping quality and associated tandem repeat, are used to evaluate the quality of predicted structural variation. Compared with other approaches, it can detect many more large insertions and complex variants with lower false discovery rate. Moreover, inGAP-sv, written in Java programming language, provides a user-friendly interface and can be performed in multiple operating systems. It can be freely accessed at http://ingap.sourceforge.net/

Distinct Linkage Disequilibrium (LD) Runs of Single Nucleotide Polymorphisms and Microsatellite Markers; Implications for Use of Mixed Marker Haplotypes in LD-based Mapping

It has been suggested that the haplotypic relationship between microsatellite markers and single nucleotide polymorphisms (SNPs) is of considerable importance, as microsatellite markers can potentially be incorporated into haplotypes containing SNPs to increase marker density across a region of interest. However, SNPs and microsatellite markers have different mutation rates and durations, and it is conceivable that the linkage disequilibrium (LD) patterns between the genetic markers may considerably differ. We assessed the LD patterns using 1,661 SNPs and 65 microsatellite markers along chromosome 22 and investigated whether common patterns of LD between the two genetic markers are deduced from the results. The results demonstrated that the patterns of LD among microsatellite markers varied considerably and the LD runs of SNPs and microsatellite markers showed distinct patterns. Microsatellite markers have a much higher mutation rate and the evolution of microsatellite markers is a more complex process which has distinct mutation properties from those of SNPs. We consider that these might contribute to the different LD patterns between the two genetic markers. Therefore, it would seem inadvisable to make assumptions about persistence of LD across even a relatively small genetic distance among microsatellite markers and to construct mixed marker haplotypes/LD maps employing microsatellite markers

Economics Imperialism in Law and Economics

Non peer reviewe

The Effect of Algorithms on Copy Number Variant Detection

BACKGROUND: The detection of copy number variants (CNVs) and the results of CNV-disease association studies rely on how CNVs are defined, and because array-based technologies can only infer CNVs, CNV-calling algorithms can produce vastly different findings. Several authors have noted the large-scale variability between CNV-detection methods, as well as the substantial false positive and false negative rates associated with those methods. In this study, we use variations of four common algorithms for CNV detection (PennCNV, QuantiSNP, HMMSeg, and cnvPartition) and two definitions of overlap (any overlap and an overlap of at least 40% of the smaller CNV) to illustrate the effects of varying algorithms and definitions of overlap on CNV discovery. METHODOLOGY AND PRINCIPAL FINDINGS: We used a 56 K Illumina genotyping array enriched for CNV regions to generate hybridization intensities and allele frequencies for 48 Caucasian schizophrenia cases and 48 age-, ethnicity-, and gender-matched control subjects. No algorithm found a difference in CNV burden between the two groups. However, the total number of CNVs called ranged from 102 to 3,765 across algorithms. The mean CNV size ranged from 46 kb to 787 kb, and the average number of CNVs per subject ranged from 1 to 39. The number of novel CNVs not previously reported in normal subjects ranged from 0 to 212. CONCLUSIONS AND SIGNIFICANCE: Motivated by the availability of multiple publicly available genome-wide SNP arrays, investigators are conducting numerous analyses to identify putative additional CNVs in complex genetic disorders. However, the number of CNVs identified in array-based studies, and whether these CNVs are novel or valid, will depend on the algorithm(s) used. Thus, given the variety of methods used, there will be many false positives and false negatives. Both guidelines for the identification of CNVs inferred from high-density arrays and the establishment of a gold standard for validation of CNVs are needed

Alexithymia and interleukin variations in somatoform disorder

Objective: The aim of the present study was to investigate if somatoform disorders (SFD) are associated with changes in the normal serum levels of important interleukins, and further, to establish if these changes are related to the presence and severity of alexithymia in patients with SFD. Methods: Twenty-four unmedicated patients who met the International Classification of Diseases (ICD-10) diagnostic criteria for SFD completed the psychological questionnaire to assess alexithymia (Toronto Alexithymia Scale), symptom reporting (SCL-90-R) and diagnostic criteria for SFD (Screening for Somatoform Symptoms scale). Serum concentrations of soluble interleukin 2 receptor α (sIL-2 Rα), IL-4, IL-6, IL-10 and IL-12 were determined in patients with SFD and in 9 healthy subjects. Results: In patients with SFD, serum levels of IL-6 (p < 0.001), IL-10 (p = 0.047) and immunoglobulin E (p = 0.045) were significantly increased in comparison with healthy controls. Additionally, a negative correlation was observed between the level of alexithymia ('total' Toronto Alexithymia Scale score) and the serum levels of sIL-2 Rα (r = -0.538) in SFD. Conclusions: Taken together, these results suggest that SFD, with clinically significant alexithymia, are associated with a reduction in Th1-mediated immune function and an increase in the activation of the Th2 immune function, indicated by the augmented serum levels of IL-6 and IL-10 and elevated immunoglobulin E. Copyright © 2007 S. Karger AG