Rare cases of rare diseases: Re-examining early 20th century cases of anencephaly from the collection of the Moscow State University, Russia.

OBJECTIVE: Documented cases of anencephaly were used to increase differential criteria of this rare disease. MATERIAL: Two skulls from a 20th-century documented medical collection at the Moscow State University diagnosed with anencephaly. METHODS: The skulls were evaluated based on macroscopic qualitative and quantitative morphological signs and X-ray analyses. RESULTS: Metric values and morphological features differ between the two cases of anencephaly noted in the collection and the published data based on normal fetal and neonatal remains. CONCLUSIONS: Analyses of medical collections helps to increase the number of diagnostic criteria for recognition and diagnosis of anencephaly in archaeological skeletons. SIGNIFICANCE: Improvement in the recognition of skeletal alterations associated with anencephaly is key towards improving our understanding of rare diseases in the past. LIMITATIONS: The fragility of skeletal elements of fetal and neonate individuals can complicate thorough analyses. SUGGESTIONS FOR FURTHER RESEARCH: Continue to identify cases of anencephaly cases in medical collections and in archaeological contexts.

Optimization of Method for Human Sex Determination Using Peptidome Analysis of Teeth Enamel from Teeth of Different Biological Generation, Archeological Age, and Degrees of Taphonomic Preservation.

Determination of biological sex to human remains is a fundamental requirement in anthropological, archeological, and forensic anthropological studies. Sex determination based on morphological criteria is significantly limited in the cases of juvenile remains and adult skeletons in a poor state of preservation. Regular attempts have been made to use alternative techniques to resolve this issue, including analysis of tooth enamel peptides by liquid chromatography/mass spectrometry. Optimization of this method involving acid etching of tooth enamel for 10 min followed by desalting of the products of etching on SDB-RPS StageTips microcolumns and analysis of desalted sample (1/3) by liquid chromatography/mass spectrometry allowed reliable sex determination to fossil remains within a wide range of archeological and biological ages without destructing analyzed teeth. Increasing the duration of enamel etching ensured a 2 to 3-fold increase in the total number of identified peptides and, more importantly, in the number of identified fragments of amelogenin Y isoform specific for male teeth, which facilitated reliable sex determination of fossil remains. The suggested technique was tested with 8 permanent and 15 deciduous teeth of different archaeological age and different degree of preservation. Two amelogenin Y-specific peptide sequences were identified. One of these peptides [SM(+15.99)IRPPYS)] was found in all male-derived samples without exception; the other peptide [IRPPYSS(+79.97)], which contained phosphorylated Ser66 residue, was found only in the enamel from deciduous teeth, which suggests that phosphorylation of Ser66 plays a role in the enamel formation in deciduous teeth.

[Cone-beam computed tomography in paleoanthropology].

OBJECTIVE: To study the capabilities of cone-bean computed tomography (CBCT) in estimating the bone structure when analyzing anthropological findings. MATERIAL AND METHODS: Twenty-four bone fragments (remains) of Napoléon Bonaparte Imperial Army soldiers who had died at a Königsberg military hospital during their retreat from Russia in the War of 1812 were examined by CBCT. A total of 28 tubular bones with different injury healing signs and a skull with maxillofacial trauma marks were investigated. Furthermore, an object from D.G. Rokhlin's paleopathological collection was used to analyze a complicated humeral infectious process. CBCT was performed by individually selecting the scanning foldings, physicotechnical conditions and regimens in relation to the anatomic location and size of fragments. RESULTS: Processing of the obtained images reveled fractures of different bones in 19 (65.5%) cases. The signs of ununited fractures were visualized in 20.7% of the samples. Image post-processing showed intraarticular consolidated fractures in 13.8% of the anthropological findings. The CBCT examination of bone fragments exhibited the signs of their fusion. A wound pattern was established in 31% of the samples. The specific features of a bone amputation stump could be characterized in detail in 17.2% of the anthropological findings. 51.7% of the cases were found to have signs of sustained bone inflammatory diseases of various genesis, which in 41.4% of them were presented by linear, bulbar, and assimilated periostal reactions and significantly detectable on CBCT scans. Sequestral cavities were imaged in 31% of the fragments. CONCLUSION: The CBCT images are characterized by high informative value (from 7.5 to 10.6 pixels/mm), optimal spatial resolution, definition, and hardness. The software of CBCT involves the parameters and possible postprocessing of images (building of panoramic and mulplanar reconstructions, assessment of the density characteristics of tissues), which allow an analysis of anthropological material, by needlessly destroying them.

[Molecular-genetic characteristics of a medieval population from the northern Russian territory]. / Molekuliarno-geneticheskaia kharakteristika srednevekovykh populiatsii s territorii russkogo severa.

Forty-seven individual mitochondrial DNA (mtDNA) samples isolated from bones samples found in the Nefedyevo, Minino, and Shuygino gravesites have been analyzed to perform molecular genetic study of the medieval (12th to 13th centuries AD) human population from the vicinity of Lake Beloe (Vologda oblast, northern Russia). The mitotypic structure of the population has been determined on the basis of sequencing the mtDNA hypervariable-region segment I (HVSI; positions 15,989-16,410). Three mitotypes characterizing the population studied have been found in the 47 representatives of the medieval population: mitotype 1 corresponding to the Cambridge reference sequence, mitotype 2 (transition G-A at position 16,129), and mitotype 3 (transitions G-A and C-T at loci 16,129 and 16,223, respectively). Mitotypes 1, 2, and 3 have been found in 91.6, 4.2, and 4.2% of the individual samples studied. This high frequency of the Cambridge mitotype is considerably higher than its mean frequencies in European populations. The frequencies of other mitotypes found correspond to their mean European values. The absence of a Mongoloid component has been demonstrated for the female lineage of the population. Comparison of the molecular genetic characteristics of contemporary European ethnic groups and the population studied has demonstrated that it may be assigned to the European population group. The high homogeneity of the mitochondrial pool suggests a strong founder effect, which agrees with the view of archeologists and anthropologists that the first migrant settlers were very few.

[Russian genofond. Genogeography of surnames]. / Russkii genofond. Genogeografiia familii.

Surnames are traditionally used in population genetics as "quasi-genetic" markers (i.e., analogs of genes) when studying the structure of the gene pool and the factors of its microevolution. In this study, spatial variation of Russian surnames was analyzed with the use of computer-based gene geography. Gene geography of surnames was demonstrated to be promising for population studies on the total Russian gene pool. Frequencies of surnames were studied in 64 sel'sovets (rural communities; a total of 33 thousand persons) of 52 raions (districts) of 22 oblasts (regions) of the European part of Russia. For each of 75 widespread surnames, an electronic map of its frequency was constructed. Summary maps of principal components were drawn based on all maps of individual surnames. The first 5 of 75 principal components accounted for half of the total variance, which indicates high resolving power of surnames. The map of the first principal component exhibits a trend directed from the northwestern to the eastern regions of the area studied. The trend of the second component was directed from the southwestern to the northern regions of the area studied, i.e., it was close to latitudinal. This trend almost coincided with the latitudinal trend of principal components for three sets of data (genetic, anthropological, and dermatoglyphical). Therefore, the latitudinal trend may be considered the main direction of variation of the Russian gene pool. The similarity between the main scenarios for the genetic and quasi-genetic markers demonstrates the effectiveness of the use of surnames for analysis of the Russian gene pool. In view of the dispute between R. Sokal and L.L. Cavalli-Sforza about the effects of false correlations, the maps of principal components of Russian surnames were constructed by two methods: through analysis of maps and through direct analysis of original data on the frequencies of surnames. An almost complete coincidence of these maps (correlation coefficient rho = 0.96) indicates that, taking into account the reliability of the data, the resultant maps of principal components have no errors of false correlations.

Ethnic affinities of the ancient human Jety-Asar population by mitochondrial DNA analysis.

An anthropological study of the remains has indicated uniformity of the ancient human Jety-Asar population (Central Asia) and suggests a mixed Euro-Mongoloid genesis. DNA was extracted from teeth from three Caucasoid skulls recovered from a burial site dated at approximately 2000 years ago. Ancient mitochondrial DNA (mtDNA) was analysed by restriction fragment length polymorphism (RFLP) analysis for the A, B, C and D haplogroups and the sequencing of hypervariable region I of the mtDNA control region. The full set of mtDNA control region variants determined for Jety-Asar specimens was only found among a modern Mongolian population (Mongoloid people), indicating some discordance of molecular and morphological data.

Molecular genetic sex determination of Medieval human remains from north Russia: comparison with archaeological and anthropological criteria.

Sex determination presents a difficult problem in archaeology and anthropology in cases of fragmentary or juvenile remains, and where grave goods are absent. Here, a molecular genetic analysis of the sex of human remain from the Early Medieval cemetery at Nefedievo, North Russia, was carried out and the results were compared with archaeological and anthropological data. Teeth without cavities (15 samples) and bones (9 samples) were used as the ancient DNA source. The repetitive sequences in DYZ1, DYZ3, DXZ3 loci, and a unique sequence in the first intron of the X-Y homologous gene amelogenin, were amplified. Sex was determined in 87.5% of the samples by archaeological criteria, in 95.8% of the samples by anthropological methods, and in 79.2% of the samples by DNA analysis. PCR allowed the sex of infant's remains to be identified in individual where the sex could not be determined by anthropological methods and in three remains where sex could not be inferred from archaeological data. Uneven preservation of nuclear DNA loci was evident.