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  1. Evaluating Digital Photography for Lip Print Recording: Compatibility With Traditional Classification Systems
    George Pallivathukal R, Kumar S, Joy Idiculla J, Kyaw Soe HH, Ke YY, Donald PM, et al.
    Cureus, 2024 Apr;16(4):e58238.
    PMID: 38745819 DOI: 10.7759/cureus.58238
    BACKGROUND: Direct digital photography for lip print recording is a recent trend, and there is a dearth of systematic research on the analysis of the recorded prints with existing clip print classification systems.

    AIMS AND OBJECTIVES: This study aims to compare the accuracy of the digital photographic method in lip print recording, comparing it with traditional methods, and assessing the suitability of commonly used lip print classification for analyzing lip prints recorded by photographic method.

    METHODOLOGY: A total of 72 participants aged between 20 and 26 were included. The lip print recording process involved photographing the lips without and with lipstick, followed by recording the lip print with cellophane tape on bond paper. The prints collected using the different methods were analyzed and compared for agreement, and the data were analyzed statistically.

    RESULTS: Inter-observer reliability was high for all methods (>0.800). The distribution of lip print patterns differed across the methods, suggesting a potential influence of the recording technique. The agreement between the conventional method and both digital methods was moderate (kappa=0.449-0.517). The agreement between digital methods with and without enhancement was also moderate (kappa=0.718). Notably, digital photographs with enhancement tend to have a higher positive agreement for several lip print types.

    CONCLUSION: Digital photography is a potential method for lip print recording. However, this study highlights the need for the calibration of lip print classification systems for digitally recorded lip prints. Further research is needed to refine the use of digital photography in forensic lip print analysis and to explore its integration with artificial intelligence for biometric identification.

  2. Fulltext Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
    Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, et al.
    Nat Genet, 2017 Oct;49(10):1529-1538.
    PMID: 28805828 DOI: 10.1038/ng.3933
    Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue. Furthermore, knockdown of these genes impaired protein translation, caused endoplasmic reticulum stress, activated DNA-damage-response signaling, and ultimately induced apoptosis. Knockdown of OSGEP or TP53RK induced defects in the actin cytoskeleton and decreased the migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identified four new monogenic causes of GAMOS, describe a link between KEOPS function and human disease, and delineate potential pathogenic mechanisms.
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