IFN-I Score and Rare Genetic Variants in Children with Systemic Lupus Erythematosus.

Interferon I (IFN I) signaling hyperactivation is considered one of the most important pathogenetic mechanisms in systemic lupus erythematosus (SLE). Early manifestation and more severe SLE courses in children suggest a stronger genetic influence in childhood-onset SLE (cSLE). To evaluate IFN-I score and SLE-associated genetic variants in cSLE.

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.

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.

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.

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.

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.

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.

A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the 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 and in the patient with WS from a Yakut family living in the Sakha Republic.

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.

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 (D-western area, D and D-central area, D and D-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.

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.

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.

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.

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.

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.