Anthropometric comparison of the idealized youth and hideous old man of Leonardo's profile drawings.

The aim of this study is to compare the old and ugly with the young and beautiful in Leonardo's profile drawings using soft tissue anthropometry.Thirty-one of Leonardo's profile drawings and portraits of the lateral view were collected and scanned. Among the 29, 9 young and 20 hideous old man scans had a measurable nasion-subnasale (n-sn) distance, and 49 anthropometric items (43 distances and 6 angles) were used for measurement as relative distances to the n-sn distance.The measured distances or angles did not differ significantly between the young and old in the 39 anthropometric items. However, the remaining 10 items were statistically significant. The young group had a significantly greater (P < 0.05) upper face height (n-stomion [sto]), nasolabial angle, and upper lip height (sn-sto) compared with the old group. However, the supraorbital depth (glabella-tragion), mandible height (sto-gnathion), nasal bridge height (n-pronasale), cutaneous lower lip height (labiale inferius-sublabiale), ear length (superaurale-subaurale), Rickett line-upper lip distance, and facial inclination were significantly greater (P < 0.05) in the old group compared with the young group.The difference of soft tissue cephalometric results between the young and old subjects can be the index in rejuvenating surgeries.

Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.

Whole-genome sequencing is the most comprehensive form of next-generation sequencing method. We aimed to assess the additional diagnostic yield of whole-genome sequencing in patients with clinically diagnosed Charcot-Marie-Tooth disease when compared with whole-exome sequencing, which has not been reported in the literature. Whole-genome sequencing was performed on 72 families whose genetic cause of clinically diagnosed Charcot-Marie-Tooth disease was not revealed after the whole-exome sequencing and 17p12 duplication screening. Among the included families, 14 (19.4%) acquired genetic diagnoses that were compatible with their phenotypes. The most common factor that led to the additional diagnosis in the whole-genome sequencing was genotype-driven analysis (four families, 4/14), in which a wider range of genes, not limited to peripheral neuropathy-related genes, were analysed. Another four families acquired diagnosis due to the inherent advantage of whole-genome sequencing such as better coverage than the whole-exome sequencing (two families, 2/14), structural variants (one family, 1/14) and non-coding variants (one family, 1/14). In conclusion, an evident gain in diagnostic yield was obtained from whole-genome sequencing of the whole-exome sequencing-negative cases. A wide range of genes, not limited to inherited peripheral neuropathy-related genes, should be targeted during whole-genome sequencing.