This study aimed to refine our understanding of the extent to which chronic diseases with and without skeletal manifestation affect the isotopic values in bone collagen.Carbon and nitrogen isotopic values were measured in the ribs and femurs of 65 individuals from a documented skeletal collection (19th-21st centuries, Czech Republic). Statistically significant differences in both carbon and nitrogen isotopic values were found between particular families. There was a notable effect of the year of death on nitrogen isotopic values in ribs. Neither the presence of chronic disease in general nor the presence of carcinoma, age-related physical debility, or tuberculosis had a significant impact on isotopic values. Cases of cancer with skeletal metastases however showed an increase of 1‰-1.5‰ in nitrogen isotopic values in (i) metastasis tissue, (ii) the healthy areas of bone affected by the metastasis, and (iii) the healthy rib bone.The results demonstrate that distinct dietary habits in particular families are the main driving force affecting the isotopic values in the sampled individuals. A minor but notable temporal shift in the nitrogen isotopic values of ribs may be linked to environmental and/or societal changes during the studied period. The observed increase in the nitrogen isotopic values of individuals with bone cancer metastases is in accordance with the state of cachexia and negative nitrogen balance. Despite the low number of cases, this result urges caution, as isotopic changes to the observed degree may significantly affect the dietary interpretation of the isotopic data.

This study explores the impact of physiological stress on carbon and nitrogen isotopic values in hair and on the isotopic offsets between hair and bone. Isotopic values were measured in hair from 18 individuals who died between 1884 and 2006; isotopic values of bone collagen in ribs and femurs were measured in a previous study. The average nitrogen isotopic offset between average hair and rib value (Δ15Nhair‐rib) was −1.2 ± 0.7‰ and Δ13Chair‐rib was −0.7 ± 0.4‰. Individuals with chronic disease showed more variable hair‐rib isotopic offsets, as well as higher isotopic variation within the isotopic profile, than did those who died suddenly. Relatively low nitrogen offsets were observed in three individuals with bone isotopic values suggesting cachexia. Increases in both carbon and nitrogen isotopic values following worsening health were observed in two individuals with detailed medical histories. Both carbon and nitrogen isotopic values in hair differ between particular families and show a significant relationship to year of death. These results suggest that diet and/or shifts in the isotopic composition of consumed food are the main factors impacting the isotopic values of studied individuals even during the final period of life. On the other hand, evidence of biological stress, which was not observable in bone collagen, was found in the individual hair isotopic records. For hair‐bone isotopic offset, the results suggest the impact of cachexia varying in relation to the timing and progress of the cachectic event.

Záchyt příčinných variant kyseliny desoxyribonukleové (DNA) byl ve skupině náhlých úmrtí s předchozí rodinnou anamnézou 16/49 (32,6 %). Klinickým a genetickým vyšetřením bylo identifi kováno 86/328 (26,2 %) příbuzných v riziku. Závěr: Multidisciplinární spolupráce spolu s centralizovanou molekulárně-genetickou diagnostikou umožnila odhalit jistou molekulární příčinu SCD v 19,8 % případů. Významná část rodin měla pozitivní rodinnou anamnézu (28,6 %). Je možné tedy usoudit, že náhlé smrti by bylo možné zabránit provedením kaskádového rodinného screeningu až u jedné třetiny zemřelých.

The examination of documented skeletal remains provides an exceptional opportunity for biohistorical research to answer questions about an individual's life and death. Research in this area also makes it possible to assess the reliability of historical records from the period of interest, which is often the subject of discussion, especially in cases of historically known individuals. The remains of K. B.C. (1895-1940), a prominent local landowner and politician, were exhumed because of the repair of a family tomb in Jíloviště, Czech Republic. The aim of this study was to analyze pathological changes in his bones and to interpret these by comparing them with the results of a historical medical records review of private family and public archives regarding his diseases and death, thus verifying their credibility. Morphological and X-ray examinations of the bones revealed several serious pathological changes, whose presence fully corresponded to the studied documents. This showed the records' reliability, and it was thus possible to accurately interpret the lesions found. The results demonstrated the need for interdisciplinary collaboration in the analysis of such cases, including the assistance of the living descendants of the studied individuals, if possible.