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result(s) for
"Mussauer, Alexandra"
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Genetic Predisposition of Atherosclerotic Cardiovascular Disease in Ancient Human Remains
by
Wurst, Christina
,
Zink, Albert
,
Narula, Jagat
in
ancient dna (adna)
,
Arteriosclerosis
,
Atherosclerosis
2024
Background: Several computed tomographic studies have shown the presence of atherosclerosis in ancient human remains. However, while it is important to understand the development of atherosclerotic cardiovascular disease (ASCVD), genetic data concerning the prevalence of the disease-associated single nucleotide polymorphisms (SNPs) in our ancestors are scarce. Objective: For a better understanding of the role of genetics in the evolution of ASCVD, we applied an enrichment capture sequencing approach to mummified human remains from different geographic regions and time periods. Methods: Twenty-two mummified individuals were analyzed for their genetic predisposition of ASCVD. Next-generation sequencing methods were applied to ancient DNA (aDNA) samples, including a novel enrichment approach specifically designed to capture SNPs associated with ASCVD in genome-wide association studies of modern humans. Findings: Five out of 22 ancient individuals passed all filter steps for calculating a weighted polygenic risk score (PRS) based on 87 SNPs in 56 genes. PRSs were correlated to scores obtained from contemporary people from around the world and cover their complete range. The genetic results of the ancient individuals reflect their phenotypic results, given that the only two mummies showing calcified atherosclerotic arterial plaques on computed tomography scans are the ones exhibiting the highest calculated PRSs. Conclusions: These data show that alleles associated with ASCVD have been widespread for at least 5,000 years. Despite some limitations due to the nature of aDNA, our approach has the potential to lead to a better understanding of the interaction between environmental and genetic influences on the development of ASCVD.
Journal Article
Insights into the pathogenesis and differential diagnosis of clival lesions in an individual from a 16.sup.th-century-CE mass grave at Mohács
2026
The aim of our paper is to present and discuss in detail the pathological lesions suggestive of tuberculosis observed in a skeleton (MMG3-75) that was excavated from the 16.sup.th -century-CE mass grave No. 3 of the Mohács National Memorial Site (Sátorhely, southwestern Hungary). The differential diagnoses of the observed bony changes, with special attention to the clival alterations, are presented. During the macromorphological, radiological, and digital microscopic examination of MMG3-75, the skull base showed mild cortical erosion and multiple, well-circumscribed osteolytic lesions at the clivus clearly evidenced by 3D imaging. In addition, endocranial granular impressions and abnormal blood vessel impressions were observed in multiple locations on the inner skull surface. Based on the differential diagnosis of the clival changes and their co-occurrence with endocranial alterations indicative of tuberculous meningitis (granular impressions and abnormal blood vessel impressions), they were most likely due to tuberculous involvement of the skull base. Additional aDNA analysis provided no evidence for the presence of Mycobacterium tuberculosis DNA in MMG3-75. To the best of our knowledge, MMG3-75 is the first reported archaeological case of tuberculous clival osteomyelitis with associated meningitis, giving us a unique insight into the occurrence of an extremely rare manifestation of tuberculosis in mediaeval Hungary.
Journal Article
Insights into the pathogenesis and differential diagnosis of clival lesions in an individual from a 16th-century-CE mass grave at Mohács (Southwestern Hungary)
2026
The aim of our paper is to present and discuss in detail the pathological lesions suggestive of tuberculosis observed in a skeleton ( MMG3–75 ) that was excavated from the 16 th -century-CE mass grave No. 3 of the Mohács National Memorial Site (Sátorhely, southwestern Hungary). The differential diagnoses of the observed bony changes, with special attention to the clival alterations, are presented. During the macromorphological, radiological, and digital microscopic examination of MMG3–75 , the skull base showed mild cortical erosion and multiple, well-circumscribed osteolytic lesions at the clivus clearly evidenced by 3D imaging. In addition, endocranial granular impressions and abnormal blood vessel impressions were observed in multiple locations on the inner skull surface. Based on the differential diagnosis of the clival changes and their co-occurrence with endocranial alterations indicative of tuberculous meningitis (granular impressions and abnormal blood vessel impressions), they were most likely due to tuberculous involvement of the skull base. Additional aDNA analysis provided no evidence for the presence of Mycobacterium tuberculosis DNA in MMG3–75 . To the best of our knowledge, MMG3–75 is the first reported archaeological case of tuberculous clival osteomyelitis with associated meningitis, giving us a unique insight into the occurrence of an extremely rare manifestation of tuberculosis in mediaeval Hungary.
Journal Article
Insights into the pathogenesis and differential diagnosis of clival lesions in an individual from a 16 th -century-CE mass grave at Mohács (Southwestern Hungary)
2026
The aim of our paper is to present and discuss in detail the pathological lesions suggestive of tuberculosis observed in a skeleton ( MMG3–75 ) that was excavated from the 16 th -century-CE mass grave No. 3 of the Mohács National Memorial Site (Sátorhely, southwestern Hungary). The differential diagnoses of the observed bony changes, with special attention to the clival alterations, are presented. During the macromorphological, radiological, and digital microscopic examination of MMG3–75 , the skull base showed mild cortical erosion and multiple, well-circumscribed osteolytic lesions at the clivus clearly evidenced by 3D imaging. In addition, endocranial granular impressions and abnormal blood vessel impressions were observed in multiple locations on the inner skull surface. Based on the differential diagnosis of the clival changes and their co-occurrence with endocranial alterations indicative of tuberculous meningitis (granular impressions and abnormal blood vessel impressions), they were most likely due to tuberculous involvement of the skull base. Additional aDNA analysis provided no evidence for the presence of Mycobacterium tuberculosis DNA in MMG3–75 . To the best of our knowledge, MMG3–75 is the first reported archaeological case of tuberculous clival osteomyelitis with associated meningitis, giving us a unique insight into the occurrence of an extremely rare manifestation of tuberculosis in mediaeval Hungary.
Journal Article