Detectable clonal mosaicism and its relationship to aging and cancer

In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of >2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 × 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 × 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases

Mechanical Investigations on Agar Gels Using Atomic Force Microscopy: Effect of Deuteration.

NoThe isotopic effect of exchanging deuterium with hydrogen on the mechanical and surface properties of agar gel is examined. The elastic modulus of the D2O gels obtained by AFM nanoindentation is significantly higher (factor of 1.5¿2) than the modulus found in H2O agar gels. Furthermore, the modulus is independent of loading rate. Surface imaging reveals that the surface roughness gets progressively smaller with increasing agar concentration. All these data suggest that the isotopic replacement of deuterium enhances the mechanical properties of the agar gel, with significant advantages in its use as a biphasic scaffold.MR

Asymmetric vitreomacular traction and symmetrical full thickness macular hole formation

NoBACKGROUND: A Full Thickness Macular Hole (FTMH) is often associated with vitreomacular traction, and this can be asymmetric with vitreomacular traction on one side of the hole but not the other. In cross-section, the elevated retinal rim around a developed FTMH is seen as a drawbridge elevation, and this drawbridge elevation may be used as a measure of morphological change. Examination of the drawbridge elevation of the retinal rim in FTMH with asymmetric vitreomacular traction may help to clarify the role of vitreomacular traction in the development of FTMH. METHOD: Cases of FTMH were identified with an initial OCT scan showing vitreomacular traction on one side of the hole only and that had a follow-up OCT scan showing progression of the hole. A tangent to the retinal surface at a distance of 700 microns from the axis of the hole was used as a marker of the drawbridge elevation of the retinal rim around the macular hole. Comparisons of the drawbridge elevation and change in drawbridge elevation between the sides with and without initial vitreomacular traction were made. RESULTS: There was no significant difference between the drawbridge elevation, or change in drawbridge elevation, on the side of the hole with initial vitreomacular traction compared to the side without initial traction. CONCLUSION: There is some intrinsic mechanism within the retina to link the morphological changes on the two sides of a FTMH. A bistable hypothesis of FTMH formation and closure is postulated to explain this linkage

Investigating model performance in language identification: beyond simple error statistics

Language development experts need tools that can automatically identify languages from fluent, conversational speech and provide reliable estimates of usage rates at the level of an individual recording. However, LID systems are typically evaluated on metrics such as equal error rate and balanced accuracy, applied at the level of an entire speech corpus. These overview metrics do not provide information about model performance at the level of individual speakers, recordings, or units of speech with different linguistic characteristics. Overview statistics may mask systematic errors in model performance for some subsets of the data, and consequently, have worse performance on data derived from some subsets of human speakers, creating a kind of algorithmic bias. Here, we investigate how well a number of LID systems perform on individual recordings and speech units with different linguistic properties in the MERLIon CCS Challenge featuring accented code-switched child-directed speech.Signal Processing System

MERLIon CCS Challenge: A English-Mandarin code-switching child-directed speech corpus for language identification and diarization

To enhance the reliability and robustness of language identification (LID) and language diarization (LD) systems for heterogeneous populations and scenarios, there is a need for speech processing models to be trained on datasets that feature diverse language registers and speech patterns. We present the MERLIon CCS challenge, featuring a first-of-its-kind Zoom video call dataset of parent-child shared book reading, of over 30 hours with over 300 recordings, annotated by multilingual transcribers using a high-fidelity linguistic transcription protocol. The audio corpus features spontaneous and in-the-wild English-Mandarin code-switching, child-directed speech in non-standard accents with diverse language-mixing patterns recorded in a variety of home environments. This report describes the corpus, as well as LID and LD results for our baseline and several systems submitted to the MERLIon CCS challenge using the corpus.Biomaterials & Tissue BiomechanicsSignal Processing System

Anencephaly: a retrospective analysis in Singapore. 1976 to 1980.

Records of 93 cases of anencephaly from three maternity hospitals in Singapore between 1976 and 1980 were analysed. The incidence was 0.54 per 1000 births. No significant correlation between anencephaly and local seasonal conditions could be found for Singapore