A Case of Adult-Onset Still's Disease With Positive Antinuclear Antibodies and Positive Antineutrophil Cytoplasmic Antibodies.

Adult-onset Still's disease (AOSD) is a rare autoinflammatory disease characterized by nonspecific symptoms such as fever, maculopapular rash, and arthralgias. The exact etiology and pathogenesis remain unclear despite advancements in medical science. Diagnosis is typically established using the Yamaguchi criteria, which include a negative antinuclear antibody (ANA) test as one of the minor criteria. However, some patients with AOSD exhibit positive ANA and even positive antineutrophil cytoplasmic antibodies (ANCA), complicating the diagnostic process. We present the case of a 19-year-old Asian woman of Yakut ethnicity who initially presented with symptoms resembling an upper respiratory tract infection. Laboratory tests revealed the presence of both ANA and ANCA. The diagnosis of AOSD was confirmed based on clinical presentation and the Yamaguchi criteria. Subsequent pulse therapy with prednisolone resulted in significant clinical improvement and a one-year remission. A review of the literature revealed that simultaneous ANCA and ANA positivity in AOSD has not been previously reported. Follow-up over 12 months showed no evidence of other autoimmune or autoinflammatory diseases, suggesting that the positive ANA and ANCA results may be either false positives or atypical laboratory manifestations in AOSD, which should be considered in the diagnosis.

High Frequency of Ancestral Haplotype A of Fatty Acid Desaturase Genes in the Yakut Population.

Aims: The purpose of this study was to study the correlation of the body weight of Yakuts with the variability of polymorphisms rs174537, rs174546 and rs3834458 of the FADS1 - FADS2 region to identify the connection of certain genotypes with obesity. Materials and Methods: For genotyping, classical methods of PCR-RFLP analysis were used. A sample of 446 DNA samples from Yakut volunteers without chronic diseases (143 women and 303 men) was studied. Results: The predominance of the ancestral alleles of SNPs rs174537, rs174546 and rs3834458 was established in all of our studied groups. Analysis of the odds ratio of allele and genotype frequencies in patients with normal BMI, high BMI and obesity did not show statistically significant values. We did not find an association between rs174537, rs174546 and rs3834458 with obesity, but we did not take into account the diet of the subjects, which may have had a stronger effect on BMI. Analysis of pairwise linkage disequilibrium and assessment of haplotypes for 3 SNPs in the FADS1 and FADS2 genes showed strong linkage of all three SNPs to each other (r2 = 0.93-0.96). Conclusions: According to the result of genotyping of SNP rs174537, the frequency of haplotype A in the Yakut population was 0.76 and, in comparison with other world data, is quite high. Which in turn is associated with lower conversion of short-chain polyunsaturated fatty acid to long-chain polyunsaturated fatty acid. Accordingly, a shift in nutrition towards more plant foods can negatively impact the health of the Yakuts. At the moment, the exact dosage of polyunsaturated fatty acids (PUFAs) for humans has not yet been established, but judging by the fact that all recommendations are mainly made on the basis of European populations, in connection with the results of the study, the Yakuts have a particularly high need for PUFAs.

The HLA-B*38:110 allele identified in a volunteer bone marrow donor.

HLA-B*38:110 allele differs from HLA-B*38:01:01:01 in codon 202 in exon 4.

[The content of zinc and selenium in local food products of Yakutia].

Deficiency of the necessary complex of micronutrients under abnormal nutrition structure creates a problem for the preservation of health and performance of the population. In this regard, it is very relevant to develop a science-based strategy for the consumption of traditional Yakut national food that have a high nutritional value and are able to satisfy the requirements of the human body in micronutrients. The purpose of the research was to investigate the content of selenium and zinc in the local foods which are most commonly consumed by the population of Yakutia. Material and methods. The objects of study were meat (7-9 cuts each) and offal (9-11 species each) of the Yakut cattle breed (2 bulls at the age of 2.5 years), of the Yakut horse foals (3 heads at the age of 6 months), northern domestic deer (3 heads), and whitefish (Coregonus muksun), Yakut crucian carp (Carassius carassius jacuticus), lake minnow [Phoxinus percnurus (Pallas)] (3 kg each). The trace elements, zinc and selenium, were determined by infrared spectroscopy. Results. The greatest amount of zinc in the meat of farm animals was noted in the meat of Yakut cattle (6.8±0.3 mg/100 g) and Yakut horse foals (6.7±0.2 mg/100 g), and the lowest - in the meat of domestic reindeer (1.5±0.1 mg/100 g). In terms of selenium content, the meat of domestic reindeer had the highest indicators (37.0±1.0 µg/100 g), and the meat of Yakut cattle had the lowest (19.0±0.8 µg/100g). The highest concentration of zinc and selenium was found in by-products of reindeer: zinc level in the heart and liver was 12.8 mg/100 g, in the small intestine and rennet - 19.0-20.4 mg/100 g, selenium level in the colon and rennet was 41.0-46.7 µg/100 g. The content of zinc and selenium in the fresh-water muksun belly (2.14±0.08 mg and 45.0±1.8 µg in 100 g) was 32.3-37.2% higher than in the fillet of muksun, and selenium level was 3 fold higher than in the Yakut carp and in the lake minnow. The consumption of 100-200 g of meat or by-products of Yakut cattle, Yakut horse foals, by-products of reindeer or Yakut crucian carp can fully cover the daily requirement of an adult in zinc. The consumption of 200 g of venison or muksun completely covers the daily need for selenium, while the portion of the other studied products contains about half or more of recommended daily intake of this trace element. Conclusion. The data presented in the article show that the population of Yakutia, with a rational diet with local products, can meet the requirements in selenium and zinc in accordance with physiological needs.

[Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family]. / Kliniko-geneticheskoe opisanie neironal'nogo tseroidnogo lipofustsinoza 6 tipa v yakutskoi sem'e.

Neuronal ceroid lipofuscinosis type 6 (NCL 6) is a rare progressive neurodegenerative disease that belongs to the group of lysosomal storage diseases. A clinical and genetic description of NCL 6 in a Yakut family was carried out. The proband and her sibling showed characteristic clinical signs, including myoclonic epilepsy, ataxia, psychomotor regression, dementia, and visual impairment. The onset of the disease in the age range from 3-4 years. The disease is caused by the frameshift mutation c.396dupT (p.Val133CysfsTer18) in exon 4 of the CLN6 in a homozygous state, which was detected using targeted next generation sequencing. Diagnosis of NCL is difficult due to the pronounced genetic heterogeneity of the disease, as well as the similarity with other hereditary metabolic diseases in clinical manifestations. The method of DNA diagnostics of NCL type 6 using NGS and direct sequencing according to Sanger has been introduced into the practice of medical genetic counseling.

Mitochondrial DNA Analysis Clarifies Taxonomic Status of the Northernmost Snow Sheep (Ovis nivicola) Population.

Currently, the intraspecific taxonomy of snow sheep (Ovis nivicola) is controversial and needs to be specified using DNA molecular genetic markers. In our previous work using whole-genome single nucleotide polymorphism (SNP) analysis, we found that the population inhabiting Kharaulakh Ridge was genetically different from the other populations of Yakut subspecies to which it was usually referred. Here, our study was aimed at the clarification of taxonomic status of Kharaulakh snow sheep using mitochondrial cytochrome b gene. A total of 87 specimens from five different geographic locations of Yakut snow sheep as well as 20 specimens of other recognized subspecies were included in this study. We identified 19 haplotypes, two of which belonged to the population from Kharaulakh Ridge. Median-joining network and Bayesian tree analyses revealed that Kharaulakh population clustered separately from all the other Yakut snow sheep. The divergence time between Kharaulakh population and Yakut snow sheep was estimated as 0.48 ± 0.19 MYA. Thus, the study of the mtDNA cytb sequences confirmed the results of genome-wide SNP analysis. Taking into account the high degree of divergence of Kharaulakh snow sheep from other groups, identified by both nuclear and mitochondrial DNA markers, we propose to classify the Kharaulakh population as a separate subspecies.

The Role of Nonshivering Thermogenesis Genes on Leptin Levels Regulation in Residents of the Coldest Region of Siberia.

Leptin plays an important role in thermoregulation and is possibly associated with the microevolutionary processes of human adaptation to a cold climate. In this study, based on the Yakut population (n = 281 individuals) living in the coldest region of Siberia (t°minimum -71.2 °C), we analyze the serum leptin levels and data of 14 single nucleotide polymorphisms (SNPs) of 10 genes (UCP1, UCP2, UCP3, FNDC5, PPARGC1A, CIDEA, PTGS2, TRPV1, LEPR, BDNF) that are possibly involved in nonshivering thermogenesis processes. Our results demonstrate that from 14 studied SNPs of 10 genes, 2 SNPs (the TT rs3811787 genotype of the UCP1 gene and the GG rs6265 genotype of the BDNF gene) were associated with the elevated leptin levels in Yakut females (p < 0.05). Furthermore, of these two SNPs, the rs3811787 of the UCP1 gene demonstrated more indications of natural selection for cold climate adaptation. The prevalence gradient of the T-allele (rs3811787) of UCP1 increased from the south to the north across Eurasia, along the shore of the Arctic Ocean. Thereby, our study suggests the potential involvement of the UCP1 gene in the leptin-mediated thermoregulation mechanism, while the distribution of its allelic variants is probably related to human adaptation to a cold climate.

Demographic History, Adaptation, and NRAP Convergent Evolution at Amino Acid Residue 100 in the World Northernmost Cattle from Siberia.

Native cattle breeds represent an important cultural heritage. They are a reservoir of genetic variation useful for properly responding to agriculture needs in the light of ongoing climate changes. Evolutionary processes that occur in response to extreme environmental conditions could also be better understood using adapted local populations. Herein, different evolutionary histories of the world northernmost native cattle breeds from Russia were investigated. They highlighted Kholmogory as a typical taurine cattle, whereas Yakut cattle separated from European taurines approximately 5,000 years ago and contain numerous ancestral and some novel genetic variants allowing their adaptation to harsh conditions of living above the Polar Circle. Scans for selection signatures pointed to several common gene pathways related to adaptation to harsh climates in both breeds. But genes affected by selection from these pathways were mostly different. A Yakut cattle breed-specific missense mutation in a highly conserved NRAP gene represents a unique example of a young amino acid residue convergent change shared with at least 16 species of hibernating/cold-adapted mammals from six distinct phylogenetic orders. This suggests a convergent evolution event along the mammalian phylogenetic tree and fast fixation in a single isolated cattle population exposed to a harsh climate.

Fatty Acid Composition of Yakut Horse Tissues.

We compared the composition and content of fatty acids (FAs) in the liver, muscles, and subcutaneous fat of Yakut horses inhabiting extreme environment in the Cryolithozone. Essential linoleic and alpha-linolenic acids, supplied to horses with their food, were accumulated in different tissues. Linoleic acid was accumulated in the liver but alpha-linolenic acid was accumulated in muscle and subcutaneous fat. Such a distribution indicates different roles of these fatty acids in the metabolism of horses. Yakut horse meat is a valuable dietary product owing to its fatty acid composition and content.

[Prevalence and intensity of smoking among the patients with ischemic heart disease of older age living in the Far North.]

The article presents an analysis of the prevalence, intensity and correlation of smoking with other risk factors of ischemic heart disease among patients with chronic ischemic heart disease aged 60 years and older living in the Far North on the basis of ethnicity, age and sex. Smoking dependence on age was traced in patients of non-indigenous ethnicity. There was a lower prevalence of smoking among women, as opposed to men and among long-livers in comparison with the elderly and senile age. High intensity and length of smoking were revealed in both ethnic groups of men patients. The average smoking experience of smokers at the time of the survey was more than 50 years, and of former smokers - more than 30 years. The quantity of more than 25 packs per year was established as a high smoking index for both ethnic groups. The high smoking index is 1,5 times more common in patients of non-indigenous ethnicity compared to Yakut group. The highest smoking index was recorded in the group of patients under 75 years. The higher the smoking index is in smoking non-indigenous group, the lower is the cholesterol level of HDL regardless of the place of birth and the length of residence in the Far North. The analysis has revealed the correlation of smoking with other risk factors: blood lipids, arterial pressure (BP), body mass index (BMI), abdominal obesity (AO) and the dependence of the suffered myocardial infarction from the smoking experience and the value of smoking index. Smoking cessation leads to a decrease in blood pressure, BMI, and promotes HDL cholesterol.

[New aspects of non-waste use of secondary raw materials of horse breeding in Yakutia].

In the diet of the population of Yakutia, the meat of 6-month-old and local herd horses is especially valued for its high nutritive value, excellent taste and dietary properties. In addition to meat, a number of other slaughter products, such as by-products, intestinal raw materials, internal fat, blood, etc., can be received during primary processing. Many of them are not fully used. The relevance of this work is to study the possibilities of waste-free use of the Yakut horse products. Biochemical investigation of the composition of the secondary products of slaughter (fat, blood, by-products, intestinal raw materials) was carried out, a concentrate from the internal fat of foals and dry blood were obtained. The inner fat of the Yakut horse in terms of the content of polyunsaturated fatty acids (PUFA) exceeded the PUFA level in subcutaneous fat. The content of linoleic acid was 10.91-12.25%. A low-temperature method for recovering fat has been tested, a fat-containing feed with a PUFA content of about 23% has been obtained. Slaughter blood is a high-value raw material for the production of functional food products as a source of iron, amino acids and other components. The iron content in the blood dried in the infrared dryer fluctuated in insignificant limits from 216.8 to 242.0 mg/kg that indicated a stable level of provision of horses with this trace element. The protein level in the dry blood of mature mares (8-19 years) was 87%. The results of the study of young offspring of the Yakut horse showed that such offal of the first category as liver, heart, kidneys were rich in protein (from 19.1±0.1 to 22.0±0.1%). The esophagus was high in fat (22.3±0.1%). The stomach and intestines were characterized by high ash content (from 3.2±0.2 to 8.0±0.7%).

Results of mammary glands topometry among yakut women with focus on age and importance of age in augmentation mammoplasty.

OBJECTIVE: Introduction: In connection with the development of plastic and aesthetic surgery, there is a steady growth in aesthetic mammoplasty. Modern aesthetics require an emphasis on and accentuation of mammary glands. For our region it is obvious that the physical and sexual development of girls living in the harsh continental climate of Yakutia has its own characteristics. In this regard, the issues of defining a clear standard diagnosis of the regional norm of mammary gland and adjacent topographic layers of the chest wall, as well as its shape, are becoming increasingly relevant. The aim: To identify the individual typological variability of the shape, size, and topometric characteristics of mammary glands of Yakut women with focus on age. PATIENTS AND METHODS: Materials and Methods: Morphometry of the mammary glands was performed in 72 Yakut women. The examined women were divided into the following age groups: group I - IV ( ages 20 -40). The measurements were performed using the Body Logic (Mentor Medical Systems BV - USA) System, where the following indicators were recorded anthropometric characteristics of the body, topometric and organometric characteristics of mammary glands women. RESULTS: Results: The analysis of the obtained data showed that the bodyweight of the women being examined increases by ages 35-40. Dimensional parameters of the transverse diameter of the chest at the level of the submammary fold and at the level of the nipples were also greater in the older age group. Visual asymmetry MG relative to right and left sides is observed in the first age group (ages 26-35). The thickness of the dermal-glandular fold at the level of the lateral, medial and upper poles also tends to increase with age, with higher values on the left side in all groups. Submammary fold as anatomical structure is the key structure that determines the aesthetics of the mammary gland during its augmentation and mastopexy, it is the foundation on which the designs of mammoplasty are based. Its asymmetry is less noticeable in the older age group. When analyzing the size of the areola along the vertical and transverse lines, a pronounced tendency to increase in size with age is observed relative to the right and left sides. CONCLUSION: Conclusions: Thus, as a result of the study, we determined the topo-morphometric parameters of the mammary glands of Yakut women of different age groups. It was observed that with sufficient symmetry of the mammary gland shape in most women in the study groups, there is an asymmetry in the structure of the shape of the chest, probably due to rickets-like conditions widespread in our region. The growth in the thickness of the skin-glandular fold is more pronounced in the fourth age group (ages 36-40), which indicates the hypertrophy of the MG tissues, which is an important factor when calculating the volume of the future implant. The index of extensibility in the lower pole of theMG is important for planning surgical intervention, since it indicates the state of the skin pocket for the implant. It is only natural that with age, MG tissues become susceptibleto natural gravitational ptosis, the same happens to the nipple-areolar complex, as evidenced by its largest transverse and vertical dimensions in the fourth age group. Whenplanning the intervention, these dimensions can be reduced using periareolar mastopexy.

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1.

Spinocerebellar ataxia type 1 (SCA1) is the major and likely the only type of autosomal dominant cerebellar ataxia in the Sakha (Yakut) people of Eastern Siberia. The prevalence rate of SCA1 has doubled over the past 21 years peaking at 46 cases per 100,000 rural population. The age at death correlates closely with the number of CAG triplet repeats in the mutant ATXN1 gene (r = -0.81); most patients with low-medium (39-55) repeat numbers survived until the end of reproductive age. The number of CAG repeats expands in meiosis, particularly in paternal transmissions; the average total increase in intergenerational transmissions in our cohort was estimated at 1.6 CAG repeats. The fertility rates of heterozygous carriers of 39-55 CAG repeats in women were no different from those of the general Sakha population. Overall, the survival of mutation carriers through reproductive age, unaltered fertility rates, low childhood mortality in SCA1-affected families, and intergenerational transmission of increasing numbers of CAG repeats in the ATXN1 gene indicate that SCA1 in the Sakha population will be maintained at high prevalence levels. The low (0.19) Crow's index of total selection intensity in our SCA1 cohort implies that this mutation is unlikely to be eliminated through natural selection alone.

Socio-demographic predictors of sleep complaints in indigenous Siberians with a mixed economy.

OBJECTIVES: Socio-demographic indicators closely relate to sleep in industrialized populations. However we know very little about how such factors impact sleep in populations undergoing industrialization. Within populations transitioning to the global economy, the preliminary evidence has found an inconsistent relationship between socio-demographics and sleep complaints across countries and social strata. MATERIALS AND METHODS: Surveys were conducted on a sample of rural Sakha (Yakut) adults (n = 168) during the autumn of 2103 to assess variation in socio-demographics and sleep complaints, including trouble sleeping and daytime sleepiness. Socio-demographic variables included age, gender, socioeconomic measures, and markers of traditional/market-based lifestyle. We tested whether the socio-demographic variables predicted sleep complaints using bivariate analyses and multiple logistic regressions. RESULTS: Trouble sleeping was reported by 18.5% of the participants and excessive daytime sleepiness (EDS) by 17.3%. Trouble sleeping was significantly predicted by older age, female gender, and mixing traditional and market-based lifestyles. EDS was not significantly predicted by any socio-demographic variable. DISCUSSION: These findings support the few large-scale studies that found inconsistent relationships between measures of socioeconomic status and sleep complaints in transitioning populations. Employing a mix of traditional and market-based lifestyles may leave Sakha in a space of vulnerability, leading to trouble sleeping.

The rediscovery of smallpox.

Smallpox is an infectious disease that is unique to humans, caused by a poxvirus. It is one of the most lethal of diseases; the virus variant Variola major has a mortality rate of 30%. People surviving this disease have life-long consequences, but also assured immunity. Historically, smallpox was recognized early in human populations. This led to prevention attempts--variolation, quarantine, and the isolation of infected subjects--until Jenner's discovery of the first steps of vaccination in the 18th century. After vaccination campaigns throughout the 19th and 20th centuries, the WHO declared the eradication of smallpox in 1980. With the development of microscopy techniques, the structural characterization of the virus began in the early 20th century. In 1990, the genomes of different smallpox viruses were determined; viruses could be classified in order to investigate their origin, diffusion, and evolution. To study the evolution and possible re-emergence of this viral pathogen, however, researchers can only use viral genomes collected during the 20th century. Cases of smallpox in ancient periods are sometimes well documented, so palaeomicrobiology and, more precisely, the study of ancient smallpox viral strains could be an exceptional opportunity. The analysis of poxvirus fragmented genomes could give new insights into the genetic evolution of the poxvirus. Recently, small fragments of the poxvirus genome were detected. With the genetic information obtained, a new phylogeny of smallpox virus was described. The interest in conducting studies on ancient strains is discussed, in order to explore the natural history of this disease.