This study identified some of the common dermatological complaints presenting to rural and remote primary care doctors in Australia. The unique addition of professional development in Tele-Derm can be used as an adjunct to advice provided to the rural doctors seeking advice for patient management.
Summary
Background
Discovering the genetic basis of inherited skin diseases is fundamental to improving diagnostic accuracy and genetic counselling. In the 1990s and 2000s, genetic linkage and candidate gene approaches led to the molecular characterization of several dozen genodermatoses, but over the past decade the advent of next‐generation sequencing (NGS) technologies has accelerated diagnostic discovery and precision.
Objectives
This review examines the application of NGS technologies from 2009 to 2019 that have (i) led to the initial discovery of gene mutations in known or new genodermatoses and (ii) identified involvement of more than one contributing pathogenic gene in individuals with complex Mendelian skin disorder phenotypes.
Methods
A comprehensive review of the PubMed database and dermatology conference abstracts was undertaken between January 2009 and December 2019. The results were collated and cross‐referenced with OMIM.
Results
We identified 166 new disease–gene associations in inherited skin diseases discovered by NGS. Of these, 131 were previously recognized, while 35 were brand new disorders. Eighty‐five were autosomal dominant (with 43 of 85 mutations occurring de novo), 78 were autosomal recessive and three were X‐linked. We also identified 63 cases harbouring multiple pathogenic mutations, either involving two coexisting genodermatoses (n = 13) or an inherited skin disorder in conjunction with other organ system phenotypes (n = 50).
Conclusions
NGS technologies have accelerated disease–gene discoveries in dermatology over the last decade. Moreover, the era of NGS has enabled clinicians to split complex Mendelian phenotypes into separate diseases. These genetic data improve diagnostic precision and make feasible accurate prenatal testing and better‐targeted translational research.
<b><i>Background:</i></b> Timely diagnosis is the cornerstone of melanoma morbidity and mortality reduction. 2D total body photography and dermoscopy are routinely used to assist with early detection of skin malignancies. Polarized 3D total body photography is a novel technique that enables fast image acquisition of almost the entire skin surface. We aimed to determine the added value of 3D total body photography alongside dermoscopy for monitoring cutaneous lesions. <b><i>Methods:</i></b> Lesion images from high-risk individuals were assessed for long-term substantial changes via dermoscopy and 3D total body photography. Three case studies are presented demonstrating how 3D total body photography may enhance lesion analysis alongside traditional dermoscopy. <b><i>Results:</i></b> 3D total body photography can assist clinicians by presenting cutaneous lesions in their skin ecosystem, thereby providing additional clinical context and enabling a more holistic assessment to aid dermoscopy interpretation. For lesion cases where previous dermoscopy is unavailable, corresponding 3D images can substitute for baseline dermoscopy. Additionally, 3D total body photography is not susceptible to artificial stretch artefacts. <b><i>Conclusion:</i></b> 3D total body photography is valuable alongside dermoscopy for monitoring cutaneous lesions. Furthermore, it is capable of surveilling almost the entire skin surface, including areas not traditionally monitored by sequential imaging.
The sustainable use of groundwater has become increasingly challenging due to extreme hydrological events and anthropogenic activity. In this study, the basin-scale groundwater response to precipitation variation was analyzed using an integrated model that comprises lumped models for land and river recharges and a distributed model for groundwater. The integrated model was applied to the Chih-Ben watershed, Taiwan, using 20years (1988Taiwan, using 20years ( -2007 of data. The hydrological data were analyzed for trends using statistical tests. Based on decreasing trends in precipitation and groundwater levels and an increasing trend in stream flow, the oblique-cut method was applied to precipitation and excess infiltration to assess land and streambed recharge. Distributed numerical groundwater modeling was used to simulate the basin-scale groundwater responses to precipitation variation and anthropogenic pumping. The model was calibrated using stable-isotope and groundwater-level data. The safe yields were estimated for the Chih-Ben watershed for dry, wet, and normal precipitation scenarios. The safe yield of groundwater was shown to vary with precipitation, which does not guarantee the sustainable use of groundwater resources. Instead, water resources should be assessed at a basin scale, taking into account the whole ecosystem, rather than only considering water for human consumption in the alluvium.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.