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The history of medicine abounds in cases of mysterious deaths, especially by infectious diseases, which were probably unresolved because of the lack of knowledge and of appropriate technology. The aim of this study was to exploit contemporary technologies to try to identify the cause of death of a young boy who died from a putative “infection” at the end of the 18th century, and for whom an extraordinarily well-preserved minute bone fragment was available. After confirming the nature of the sample, we used laser microdissection to select the most “informative” area to be examined. Tissue genotyping indicated male gender, thereby confirming the notary’s report. 16S ribosomal RNA sequencing showed that Proteobacteria and Actinobacteria were more abundant than Firmicutes and Bacteroidetes, and that Pseudomonas was the most abundant bacterial genus in the Pseudomonadaceae family. These data suggest that the patient most likely died from Pseudomonas osteomyelitis. This case is an example of how new technological approaches, like laser microdissection and next-generation sequencing, can resolve ancient cases of uncertain etiopathology. Lastly, medical samples may contain a wealth of information that may not be accessible until more sophisticated technology becomes available. Therefore, one may envisage the possibility of systematically storing medical samples for evaluation by future generations.

Male infertility is correlated with several genetic and non-genetic conditions. Microdeletions of Y chromosome are one of the most frequent genetic defects associated with male infertility. Evaluating this in infertile patients is important to assess an etiological diagnosis and possible prognosis of infertility, as well as to address clinical decision during treatment of infertility by intracytoplasmatic sperm injection, where the probability of success depends on the type and the number of deleted regions (azoospermia factor regions). To improve genetic counseling, it is useful to characterize Yq regions by a rapid and accurate method. In the current study, we evaluated the diagnostic efficiency and the time required of an in-house automated capillary electrophoresis method for Y microdeletions screening and applied it to estimate the prevalence of Y microdeletions in 100 infertile males affected by azoospermia or severe oligozoospermia (sperm count