A Systematic Review and Meta-Analysis of Free Triiodothyronine (FT3) Levels in Humans Depending on Seasonal Air Temperature Changes: Is the Variation in FT3 Levels Related to Nonshivering Thermogenesis?

Thyroid hormones play a crucial role in regulating normal development, growth, and metabolic function. However, the controversy surrounding seasonal changes in free triiodothyronine (FT3) levels remains unresolved. Therefore, the aim of this study was to conduct a systematic review and meta-analysis of variations in FT3 levels in relation to seasonal air temperatures in the context of current knowledge about its role in nonshivering thermogenesis. Ten eligible articles with a total of 336,755 participants were included in the meta-analysis. The studies were categorized into two groups based on the air temperature: "Cold winter", where the winter temperature fell below 0 °C, and "Warm winter", where the winter temperature was above 0 °C. The analysis revealed that in cold regions, FT3 levels decreased in winter compared to summer (I2 = 57%, p < 0.001), whereas in warm regions, FT3 levels increased during winter (I2 = 28%, p < 0.001). These findings suggest that seasonal variations in FT3 levels are likely to be influenced by the winter temperature. Considering the important role of the FT3 in the nonshivering thermogenesis process, we assume that this observed pattern is probably related to the differences in use of thyroid hormones in the brown adipose tissue during adaptive thermogenesis, which may depend on intensity of cold exposure.

Interactive Effects of Obesity and Hypertension on Patterns of Hair Essential Trace Element and Mineral Content in Adult Women.

The objective of the present study was to evaluate potential similar patterns and interactive effects of obesity and hypertension on hair essential trace element and mineral content in adult women. In this cross-sectional study, a total of 607 adult women divided into controls (n = 101), groups with obesity without hypertension (n = 199), hypertension without obesity (n = 143), and both obesity and hypertension (n = 164) were included in the study. Assessment of hair mineral and trace element levels was performed by inductively-coupled plasma mass-spectrometry. Hair Ca, Mg, Co, and Mn levels in women with obesity, hypertension, and both diseases were significantly lower, compared to controls. Hair Mg levels in women with obesity and hypertension were significantly lower, whereas hair Na and K were found to be higher when compared to other groups. Hair Fe and V content in obese patients was lower than in other groups. Obesity was associated with lower hair Cu levels, whereas patients with hypertension had higher hair Cu content. Hypertension was also associated with higher hair Cr and Se content irrespective of body weight. Hair Zn levels in obese women with and without hypertension were significantly lower than those in healthy controls and normal-weight women with hypertension. In multiple regression models hair Mg was considered as a significant negative predictor of both systolic and diastolic blood pressure values. The observed alterations in hair trace element and mineral content provide an additional link between obesity and hypertension, although further detailed studies are required.

The attitude of young people in the city of Yakutsk to DNA-testing.

This pilot research was one of the first sociological studies with general questions on genetic testing with 300 participants, 75% of which were representatives of one people - the Sakha. A quantitative method was used: a sociological survey with quota sampling (Δ ± 5%), held in February - March 2018 in the City of Yakutsk (n = 350).Analysis of the survey results have shown that the respondents have low levels of awareness about the DNA-testing method: 72.3% "do not know about the method". Only 18.7% of respondents knew that since 2000 the Medical-Genetic Centre of the Sakha Republic (Yakutia) conducts DNA diagnostics for hereditary diseases, with 81.0% replying that they didn't know that. The questionnaire has shown that 90.3% of participants would like to undergo DNA-testing to identify their susceptibility to genetic diseases. Our questionnaire has shown high levels of self-identity among the young Sakha and their desire to learn about their belonging to a specific ethnicity (49.3%) with the assistance of DNA-testing. Furthermore, based on the answers relating to motivations for undergoing DNA-testing, we can say that the respondents have confirmed the peculiarities of their national mindset, specifically, high value of children for a family: "concern for the health of my future children" was a great motivator for taking the test (50.3%).

Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.

Congenital autosomal recessive cataract with unknown genetic etiology is one of the most common Mendelian diseases among the Turkic-speaking Yakut population (Eastern Siberia, Russia). To identify the genetic cause of congenital cataract spread in this population, we performed whole-exome sequencing (Illumina NextSeq 500) in one Yakut family with three affected siblings whose parents had preserved vision. We have revealed the novel homozygous c.1621C>T transition leading to premature stop codon p.(Gln541*) in exon 8 of the FYCO1 gene (NM_024513.4). Subsequent screening of c.1621C>T p.(Gln541*) revealed this variant in a homozygous state in 25 out of 29 Yakut families with congenital cataract (86%). Among 424 healthy individuals from seven populations of Eastern Siberia (Russians, Yakuts, Evenks, Evens, Dolgans, Chukchi, and Yukaghirs), the highest carrier frequency of c.1621C>T p.(Gln541*) was found in the Yakut population (7.9%). DNA samples of 25 homozygous for c.1621C>T p.(Gln541*) patients with congenital cataract and 114 unaffected unrelated individuals without this variant were used for a haplotype analysis based on the genotyping of six STR markers (D3S3512, D3S3685, D3S3582, D3S3561, D3S1289, and D3S3698). The structure of the identified haplotypes indicates a common origin for all of the studied mutant chromosomes bearing c.1621C>T p.(Gln541*). The age of the с.1621C>T p.(Gln541*) founder haplotype was estimated to be approximately 260 ± 65 years (10 generations). These findings characterize Eastern Siberia as the region of the world with the most extensive accumulation of the unique variant c.1621C>T p.(Gln541*) in the FYCO1 gene as a result of the founder effect.

Hair trace element concentrations in autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD).

BACKGROUND: The existing data demonstrate that alteration of trace element and mineral status in children with neurodevelopmental disorders including ASD and ADHD. However, comparative analysis of the specific patterns of trace element and mineral metabolism in children with ASD and ADHD was not performed. Therefore, the primary objective of the present study was to assess hair trace element and mineral levels in boys with ADHD, ASD, as well as ADHD with ASD. METHODS: Boys with ADHD (n = 52), ASD (n = 53), both ADHD and ASD (n = 52), as well as neurotypical controls (n = 52) were examined. Hair analysis was performed using inductively-coupled plasma mass-spectrometry. RESULTS: The obtained data demonstrate that hair Co, Mg, Mn, and V levels were significantly reduced in children with ADHD and ASD, and especially in boys with ADHD + ASD. Hair Zn was found to be reduced by 20% (p = 0.009) only in children with ADHD + ASD as compared to healthy controls. Factor analysis demonstrated that ASD was associated with significant alteration of hair Co, Fe, Mg, Mn, and V levels, whereas impaired hair Mg, Mn, and Zn content was also significantly associated with ADHD. In regression models hair Zn and Mg were negatively associated with severity of neurodevelopmental disorders. The revealed similarity of trace element and mineral disturbances in ASD and ADHD may be indicative of certain similar pathogenetic features. CONCLUSION: The obtained data support the hypothesis that trace elements and minerals, namely Mg, Mn, and Zn, may play a significant role in development of both ADHD and ASD. Improvement of Mg, Mn, and Zn status in children with ASD and ADHD may be considered as a nutritional strategy for improvement of neurodevelopmental disturbances, although clinical trials and experimental studies are highly required to support this hypothesis.

Streptozotocin (STZ)-Induced Diabetes Affects Tissue Trace Element Content in Rats in a Dose-Dependent Manner.

The objective of the present study was investigation of tissue trace element distribution in a streptozotocin model of DM1 in rats. DM1 was modeled in 2-month-old male Wistar rats (n = 30) using intraperitoneal injection of 45 mg/kg b.w. (STZ1) and 55 mg/kg b.w. streptozotocin (STZ2), whereas control animals were injected with physiological saline. The rats were subjected to oral glucose tolerance test (OGTT) and HbA1c level assessment at day 14. At day 30, blood serum, liver, kidney, and heart samples were collected for tissue trace element assessment using inductively coupled plasma mass spectrometry (ICP-MS). STZ-treated rats were characterized by lack of significant weight gain and elevated HbA1c and blood glucose levels. ICP-MS analysis demonstrated a dose-dependent accumulation of Cu, Mn, Mo, and Se levels in the liver. Correspondingly, the dose-dependent increase in renal Cu, Mn, V, and Zn levels was significant, whereas the observed trend for kidney V and Mo accumulation was nearly significant. The patterns of trace element content in the myocardium of STZ-exposed rats were quite different from those observed for liver and kidney. Only cardiac Zn content was characterized by a significant decrease. Serum Co, Cr, Cu, Se, V, and Mo levels were characterized by a significant decrease in response to STZ-induced diabetes. Generally, the obtained data demonstrate that diabetes is associated with altered copper, manganese, molybdenum, chromium, and vanadium handling. In turn, only altered Zn status may provide a link to diabetic cardiotoxicity. However, the particular mechanisms of both impaired metal handling in STZ diabetes and their potential anti-diabetic activity require further investigation.

A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia).

Waardenburg syndrome (WS) is an orphan genetic disease with autosomal dominant pattern of inheritance characterised by varying degrees of hearing loss accompanied by skin, hair and iris pigmentation abnormalities. Four types of WS differing in phenotypic characteristics are now described. We performed a Sanger sequencing of coding regions of genes PAX3, MITF, SOX10 and SNAI2 in the patient with WS from a Yakut family living in the Sakha Republic. No changes were found in the PAX3, SOX10 and SNAI2 coding regions while a previously reported heterozygous transition c.772C>T (p.Arg259*) in exon 8 of the MITF gene was found in this patient. This patient presents rare phenotype of WS type 2: congenital unilateral hearing loss, unilateral heterochromia of irises, and absence of skin/hair depigmentation and dystopia canthorum. Audiological variability in WS type 2, caused by the c.772C>T (p.Arg259*) variant in the MITF gene, outlines the importance of molecular analysis and careful genotype-phenotype comparisons in order to optimally inform patients about the risk of hearing loss. The results of this study confirm the association of pathogenic variants in the MITF gene with WS type 2 and expanded data on the variability of audiological features of the WS.

Geographic variation of environmental, food, and human hair selenium content in an industrial region of Russia.

The objective of the present study was investigation of the selenium (Se) levels in environmental samples, main consumed food products, as well as human hair in the areas of the Orenburg region. Se levels in the environmental objects (water, soil, wheat), frequently consumed food products (wheat bread, ryebread, beef, pork, chicken, milk, cottage cheese), as well as human hair samples in the western (n = 210), central (n = 195), and eastern (n = 120) areas were assessed using inductively-coupled plasma mass-spectrometry and atomic absorption spectrometry (soil). The obtained data demonstrate that water (87% and 89%), soil (41% and 48%), and wheat (11% and 11%) Se levels Central and Eastern areas were significantly higher than those in the Western area. The level of Se in foods was found to be the highest in the Eastern (wheat bread and beef), Central and Eastern (ryebread and pork), or Central (milk and cottage cheese) areas of the Orenburg region. Hair Se content (0.298 (0.233-0.591) µg/g) as well as dietary Se intake (84.3 (73.7-95.8) µg/day) did not differ significantly between the studied areas. At the same time, regression analysis demonstrated that Se intake with wheat bread (ß = 0.634; p = 0.042) was the strongest predictor of hair Se. The revealed associations between environmental and food Se content and Se status of the population underline the necessity of continuous monitoring of Se intake and exposure in order to prevent potential health effects associated with both deficiency and overload.

Zinc, copper, cadmium, and lead levels in cattle tissues in relation to different metal levels in ground water and soil.

The objective of the present study was to investigate the interaction between environmental (water and soil) levels of zinc, copper, cadmium, and lead levels, as well as their content in Hereford beef cattle tissues in five districts (D1-western area, D2 and D3-central area, D4 and D5-eastern area) of the Orenburg region. Soil metal levels were assessed using atomic emission spectrometry, whereas water and tissue (liver, kidney, muscle, heart) metal content was studied using inductively coupled plasma-mass spectrometry. The obtained data demonstrate that the highest levels Zn in soil and water (p < 0.001), as well as cattle muscle, liver, and kidney (p < 0.05) were observed in D4 and D5 (eastern area), exceeding the maximum permissible concentration levels (MPCL) for drinking water and muscle for all regions. Similar associations were found for Cu levels. The highest soil and water Cd and Pb content were observed in D2 (central area) and D5 (eastern area), respectively. At the same time, cattle tissue Cd and Pb content did not correspond to the respective environmental levels. Correlation analysis demonstrated that water and soil Zn and Cu content directly correlated with muscle, liver, and kidney, but not heart metal content. At the same time, water Cd levels were negatively interrelated with muscle cadmium content but correlated directly with hepatic metal content. Both water and soil Pb levels positively correlated with renal metal levels in cattle. In turn, soil lead content was inversely associated with muscle metal levels. Regression analysis also demonstrated a significant association between environmental and tissue levels of Zn and Cu. The models adjusted for all studied elements demonstrated a significant effect of metal interaction on tissue metal levels. Hypothetically, excessive environmental Zn, and possibly Cu, levels may affect the uptake of heavy metals including Cd and Pb from the environment.

Copper and zinc levels in soil, water, wheat, and hair of inhabitants of three areas of the Orenburg region, Russia.

The objective of the present study was to assess the level of zinc and copper in soil, water, wheat and hair of inhabitants of the western, central, and eastern areas of the Orenburg region. A total of 525 water, soil, and wheat samples, as well as 420 hair samples were assessed using atomic absorption spectrometry (water, soil, wheat) and inductively-coupled plasma mass spectrometry (hair). The highest levels of Zn and Cu in water (4.9(4.2-5.1) and 1.0(0.9-1.1) mg/l), soil (23.8(20.7-27.0) and 2.6(1.9-3.1) mg/kg), and wheat (24.7(20.5-31.0) and 4.8(4.2-5.5) mg/kg) were observed in the eastern area (p < 0.001). Hair zinc levels in inhabitants of the western (184(165-198) µg/g) and eastern (224(211-253) µg/g) areas of the region exceeded the respective values from the central area by 32% and 61% (p < 0.001). In turn, hair Cu levels in the central (16.4(14.3-17.8) µg/g) and eastern (17.9(16.4-19.0) µg/g) areas exceeded the values from the western area by 10% and 20%, respectively. Correlation analysis demonstrated that hair Zn levels were positively correlated with water and soil content, whereas wheat Zn levels were associated with soil and water content. For copper significant direct correlation was observed only between soil and water Cu content. In multiple regression models, only water zinc level was significantly associated with hair Zn content, although the general model accounted for 55% of variability of hair Zn content. Higher zinc and copper exposure in the eastern area is presumably associated with higher activity of metal-processing industry.

Enzymopenic Congenital Methemoglobinemia in Children of the Republic of Sakha (Yakutia).

Type I congenital methemoglobinemia is an autosomal recessive disorder. A high frequency of congenital methemoglobinemia has been reported among Native Americans inhabiting the Yukon-Kuskokwim Delta. Other rare cases of congenital methemoglobinemia of types I and II have been reported in Japan and other countries. In Russia-namely, in Yakutia-a high frequency of type I congenital methemoglobinemia has been reported. In 2009, the Consultation Polyclinic of the Pediatric Center in Yakutsk city established a registry of children with congenital methemoglobinemia. In total, 43 patients were registered between 2005 and 2009. The median methemoglobin level was 13.5% (ranging between 4.2% and 33.9%) and physical examination revealed cyanosis of the skin and mucus membranes. There were significant positive relationships between percentage of methemoglobin and erythrocyte count, hemoglobin concentration, and hematocrit among male patients, consistent with an upregulation of the hypoxic response. The prevalence per 100,000 children ranged from 12.7 to 47.0 in 3 geographic regions of Yakutia. Further research is needed to clarify the clinical consequences of congenital methemoglobinemia in the children of Yakutia and the reasons for the high variability in the prevalence of the condition.

The health of populations living in the indigenous minority settlements of northern Yakutia.

This monograph contains the results of a study carried out by the Yakutsk Research Center for Complex Medical Problems, "Evaluating the health of the indigenous minorities of the Sakha Republic (Yakutia) and optimizing medical assistance using innovative technologies and telemedicine in indigenous settlements." The child population was studied in 19 indigenous minority settlements, and the adult population was studied in 12 settlements.

Dietary intakes of energy and macronutrients by lactating women of different ethnic groups living in Yakutia.

BACKGROUND: There should be a substantial increase in the intake of dietary energy, protein and other nutrients by lactating women, though these special increments can be different in different ethnic groups. OBJECTIVE: To evaluate the influence of maternal ethnicity and diet on the quality of breast milk and its potential effect on early childhood development. DESIGN: A total of 185 mothers (150 Native and 35 Russian) living in settlements and small towns of rural Yakutia and 54 mothers (26 Native and 28 Russian) living in Yakutsk were surveyed and average food intake was recorded during 3 successive days before the survey was analyzed. RESULTS: The amount of protein varied from 18 to 168.3 g/day, fat--from 12 to 176.1 g/day, energy--from 900 to 3680.4 kcal/day. Protein intake was at the level of current recommended dietary allowances (RDA) in Russians and was higher than in Natives living in rural settlements and small towns (p = 0.02) and in Yakutsk (p = 0.03). Carbohydrate intake was higher, though not significantly, in both ethnic groups compared with the current recommendations. Protein, fat, carbohydrates and, therefore, energy intake were lower (p < 0.03) in Native women living in Yakutsk compared with the intake of Native women living in rural settlements and small towns. CONCLUSIONS: The dietary intakes of energy and macronutrients depended on the place where a woman lived rather than on her ethnicity. Overall, energy intake was considered to be at the lower limit (basal energy expenditure 2002/2005) for lactating women, with the exception of Native women living in Yakutsk whose energy intake was below the lower limit.

Health status of Native people living in the Republic of Sakha (Yakutia).

BACKGROUND: Native people of the Republic of Sakha (Yakutia) live mostly in northern regions in the so-called "national settlements". Natives usually experience more health-related problems as compared to the total population. As a result, life expectancy at the birth of Natives living in the Republic of Sakha (Yakutia) is lower compared to ethnic groups living in European countries, in the United States, and in Canada. OBJECTIVE OF THE STUDY: To determine the prevalence of diseases among Natives living in Yakutia and to compare the standards of living for Dolgans living in the Anabarsky region and Evenks living in Gigansky and Ust-Maysky regions. STUDY DESIGN/METHODS: The study was designed as a population-based, cross-sectional examination with the addition of a cross-sectional survey for Dolgans and Evenks. Data were obtained from 324 Evenks, 43 Evens, 230 Dolgans, and 216 people of other ethnic groups, aged 17-86. In the additional cross-sectional survey, 155 Dolgans and 292 Evenks were included. RESULTS: Among Natives, the most prevalent diseases are digestive diseases (67.9 cases per 100 examined), diseases of the genitourinary system (45.3 per 100 examined), circulatory system diseases (44.4 per 100 examined), diseases of the respiratory system (36.9 cases per 100 examined) and diseases of the musculoskeletal system and connective tissue (28.4 cases per 100 examined). There are differences in the prevalence among Natives living in different regions. Anabarsky region has the lowest disease burden and Dolgans inhabiting this region have higher standards of living than Evenks living in Gigansky and Ust-Maysky regions. CONCLUSIONS: The prevalence of diseases among the Natives, living in the Republic of Sakha (Yakutia), is very high. Differences in raw prevalence rate between Native ethnic groups were found, but it is unknown whether these differences can be assigned rather to the difference in standards of living in the inhabited locality than to ethnicity itself.