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The Luobusa chromitite and ophiolite present a captivating geological feature marked by peculiar mineralogical and geochemical characteristics. Abundant platinum-group minerals (PGM), base-metal sulfides (BMS), and PGE-sulfides and alloys in the chromitite reveal a multistage genesis, encompassing partial mantle melting, melt-rock interactions, and dynamic shifts in oxygen and sulfur fugacities (fO2, fS2). The geochemical signatures and PGE patterns of these mineral inclusions elucidate the evolutionary process of the Luobusa ophiolite, tracing its transition from a sub-ridge environment to a sub-arc setting. The variable ΣPGE values (40–334 ppb) in chromitite, coupled with notably lower ΣPGE values (10–63 ppb) in dunite imply extensive melt fractionation and melt-rock interactions. Coexisting well-crystallized Os-Ir alloys alongside interstitial BMS likely reflect low fS2 and high temperatures during the early formational stages, whereas abundant anhedral or irregular sulfarsenide and pyrite inclusions in chromite point to lower temperatures and higher fS2 during the late stages. The trace element composition of pyrite inclusions displays some of the characteristics of mid-ocean ridge (MOR) and oceanic island rocks, manifesting the interplay of diverse magmatic sources during the evolution of the Luobusa ophiolite. [ABSTRACT FROM AUTHOR]

【Objective】A major gene and polygenes genetic analysis on the chlorophyll content in the pulp of cheih-qua was conducted to study the relationship and genetic mechanism between pulp color and chlorophyll content, with an aim to lay a foundation for the breeding of high-quality cheih-qua varieties.【Method】In the study, cheih-qua inbred lines J16 (white pulp) and FJ5 (green pulp) were used to form four generation populations, P1, P2, F1 and F2. The pulp color of the chieh-qua was observed by naked eye and the chlorophyll content was measured. The genetic model analysis software package was used to analyze the chlorophyll content of the pulp, and the maximum likelihood function value and AIC value were obtained. Then, the three models with the smallest AIC values were selected as alternate models and the suitability test was carried out. Finally, the first- and second-order genetic parameters of the optimal genetic model were calculated, and the genetic effect values of major genes and polygenes were analyzed.【Result】The results showed that chlorophyll content was the key factor in the formation of green pulp of the chieh-qua. The color and chlorophyll content of the F1 generation were between the parents and slightly inclined to the white pulp parents (P1), and the color and chlorophyll content of the F2 generation showed quantitative characteristics. The optimal genetic model for chlorophyll content in the pulp was MX2-ADI-ADI, that is, 2 pairs of additive - dominant - epistatic major gene + additive - dominant - epistatic polygene models. In the first-order genetic parameters, the sum of absolute additive effects (da+db) of the two major genes was greater than the sum of absolute dominant effects (ha+hb), and da > db, indicated that the negative additive effect of the first major gene was dominant. In epistatic genetic effects, gene additive-additive interactions were the main positive effects. The second-order genetic parameters indicated that the genetic variance of the major gene was 32.1590, the genetic variance of the polygenes was 1.1540, and the heritability rates of the major gene and the polygenes were 93.69% and 3.36%, respectively.【Conclusion】The heritability of major genes for the pulp color of chieh-qua is much higher than that of polygenes, and the major genes are dominant. Therefore, we should pay attention to the use of major genes in the process of high-quality breeding of chieh-qua, and we can select in early generations and improve chieh-qua by combined breeding.

Maternal effects in cattle genetics are defined as the causal influence of the phenotype or maternal genotype on the offspring’s phenotype by effects occurring when the genetic and environmental characteristics of the mother influence the phenotype of the offspring beyond the direct inheritance of genes. Its relevance has been strongly described in genetic models focused on the genetic improvement of preweaning traits in cow-calf beef cattle production systems. Here, basic concepts and the importance of maternal effects when using linear and animal model procedures for genetic evaluations of growth and live-weight traits in beef cattle are reviewed and discussed. A brief history of estimation methods from classical studies to recent studies used for the development of animal models for studying maternal effects is also provided. Some important biometric concepts for maternal effect estimation are described, and the antagonism between direct genetic effects and maternal effects, its biological basis, and sources of error in the estimation of direct genetic and maternal covariance are discussed. Finally, some genomic perspectives are presented. [ABSTRACT FROM AUTHOR]

Copyright of Estudios Filosóficos is the property of Estudios Filosoficos and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Guangdong Agricultural Sciences is the property of South China Agricultural University, Guangdong Academy of Agricultural Sciences and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The distribution of the deep geothermal field and the tectonic thermal control mode in the Yingshan area were not understood systematically, which would bring in constraints to the sustainable exploration of local geothermal resources. Based on the field survey on continuous temperature, fracture measurements in the outcrops of granite rock, slug-test, and pumping test in the boreholes, a three-dimensional model coupling fluid flow and heat transfer process in fractured rock reservoir was established. Then the distribution of fluid pressure temperature and the Darcy velocity in the whole geothermal reservoir were calculated considering different treatment combinations of main faults. The results show that the deep temperature field and fluid pressure distribution are greatly affected by the faults system. At the location of bedrock and impermeable fault, the fluid movement is very weak, and the heat transfer is mainly controlled by heat conduction, while in the high permeable fault, it is mainly controlled by heat convection. Low temperature and fluid pressure occurred in the deep, high-permeable fault zone whereas high fluid pressure occurred in the impermeable fault zone. At a depth larger than 2000 m, the zones with high temperatures and intense hydraulic exchange coincide with the conductive fault zones, which indicates that the high-permeable faults are the most important channel for seepage and heat transfer in the reservoir. Therefore, the northeast faults are the dominant channel for fluid migration and heat conduction in the Yinshan area. Hot water migrates upward along the northeast faults and is blocked by the north-south fault. The hot spring is formed at the intersecting position of two groups of faults. This study is helpful for scientific, sustainable exploration of geothermal resources in the Yingshan area.

Loudi City in central Hunan has recorded 281 karst collapse incidents and tens of thousands of collapse pits, which made it one of the cities in China experiencing the most serious karst collapses. Among all these karst collapses, 222 karst collapses occurred in mining areas, accounting for 79% of the total. In addition, some karst collapses were caused by foundation engineering or by rainfall infiltration and erosion. By sorting out the temporal and spatial relationship between karst collapse events, karst collapses and collapse pits, it is concluded that karst collapses in Loudi City can fall into four occurrence modes, namely, vacuum erosion, floating--softening, load vibration and seepage erosion, and each mode has four collapse processes. Among them, vacuum erosion collapses and floating--softening collapses are mainly caused by mining activities, which are induced by drainage from the mining area and backwater after the mine has been closed; load vibration collapses are mainly induced by external dynamic loads such as pile foundation construction; seepage erosion collapses are natural collapses mostly induced by heavy rainfall. The influencing factors of karst collapses include basic factors and inducing factors. The basic factors include stratum lithology, karst landform, karst water abundance, correlation with mining areas, etc., which constitute the key influencing factors in karst collapse-prone areas; the inducing factors mainly include drainage in mining areas, backwatering in closed mines, engineering vibration, rainfall, etc., and the intensities of these factors can affect the time, scope and scale of karst collapses. In order to strengthen the risk management of karst collapses, it is recommended to establish a monitoring and early warning system for karst collapses, and scientifically develop risk assessment, prevention and control plans and disaster emergency response plans for karst collapses. Besides, controlling the area, method and intensity of engineering construction, prohibiting or limiting the mining of coal, gypsum, groundwater, etc. in karst areas, and maintaining the dynamic balance between rock, soil, cave, water and air are effective measures to prevent and control karst collapses. In this paper, the distinction between the basic factors and inducing factors of karst collapses can provide a scientific basis for their effective prevention and control in karst areas, and can provide a reference for the construction of harmonious and beautiful villages. [ABSTRACT FROM AUTHOR]

Hezhou in Guangxi is rich in geothermal resources with great development prospects and research value. However, there are problems to be addressed in terms of supply sources, cyclic evolution processes, and genesis mechanisms of geothermal resources in this region. Through geothermal geological surveys and analyses of geophysics, geochemistry, and environmental isotopes, this study has explored thermal storage characteristics, supply sources, circulation depths, and genetic models of the geothermal fields in Yangmeichong, Hezhou. A geological geophysical model and a convective geothermal model of uplift mountain faults have been preliminarily established, whose geological parameters such as temperature, composition, depth, and magnetism of geothermal resources are consistent with the understanding of geology. The thermal reservoir of geothermal fields in Yangmeichong is belt shaped and composed of the Yanshanian granite fracture zone. The Guposhan Fault (F1) is the main water conducting and heat controlling structure in the geothermal fields in Yangmeichong. The source of geothermal heat flow in the geothermal fields is the heat from the upper mantle and deep crust (mantle heat flow), as well as the heat generated by the decay of radioactive elements in the shallow crust (crust heat flow), providing a heat source for the formation of deep circulating groundwater. Temperatures and geothermal gradients gradually increase from the western boundary (F1-1) to the eastern boundary (F1) and from the northern boundary to the southern boundary of the geothermal fields in Yangmeichong. In the vertical direction, geothermal gradients increase with the increase of depths. Temperatures backwatering in closed mines, engineering vibration, rainfall, etc., and the intensities of these factors can affect the time, scope and scale of karst collapses. In order to strengthen the risk management of karst collapses, it is recommended to establish a monitoring and early warning system for karst collapses, and scientifically develop risk assessment, prevention and control plans and disaster emergency response plans for karst collapses. Besides, controlling the area, method and intensity of engineering construction, prohibiting or limiting the mining of coal, gypsum, groundwater, etc. in karst areas, and maintaining the dynamic balance between rock, soil, cave, water and air are effective measures to prevent and control karst collapses. In this paper, the distinction between the basic factors and inducing factors of karst collapses can provide a scientific basis for their effective prevention and control in karst areas, and can provide a reference for the construction of harmonious and beautiful villages. [ABSTRACT FROM AUTHOR]

Copyright of Chinese Journal of Oil Crop Sciences is the property of Oil Crops Research Institute of Chinese Academy of Agricultural Sciences and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Hydrogeology & Engineering Geology / Shuiwendizhi Gongchengdizhi is the property of Hydrogeology & Engineering Geology Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective With high reservoir temperature, good lithology and high water content, the Qingshankou Formation is the best geothermal reservoir of Daqingzijing area, the saddle of the Changling Depression. Therefore, elucidating the genetic model of geothermal water is of great significance for the sustainable development and utilization of geothermal resources in this area. Methods In this study, the source and mixing process of geothermal water in a target area were studied by hydrochemical testing of geothermal water samples collected from 7 wells in the Qingshankou Formation, combined with 8 groups of hydrogen and oxygen isotope data, and a genetic model was established. Results The results show that the geothermal water of the Qingshankou Formation is mainly Cl-Na-type fluid, which is partially balanced. And the geothermal water is originated from the precipitation and primary sedimentary water in the Changbai Mountain area, with recharge elevation of 2 347-2 370 m. A geothermal fluid with a reservoir temperature of 81.25-112.80 ℃ was formed after the cyclic heat absorption process and was stored in the clastic rock reservoir of the Qingshankou Formation in a semi-open system. Conclusion In addition, the northeast-oriented and northwest-oriented fault systems in the study area are the main water conducting channels for geothermal fluid circulation. During the deep circulation, geothermal fluid reactions with surrounding rock minerals, resulting in the dissolution of carbonate and silicate minerals, forming geothermal water resources dominated by Na+, Cl- and HCO3- ions.

Calcareous interbeds control the migration of oil and water in marine strata. However, in China, the origins of such calcareous interbeds have not been investigated in detail. In this paper, we present a study of calcareous interbeds in marine strata of the Zhujiang Formation in the Wenchang Oil Field, which is located in the southeast of Hainan Province, China. The lithological characteristics, types and features of diagenesis, and formation of the calcareous interbeds were investigated using core, thin-section, scanning electron microscopy, and cathodoluminescence observations, and stable carbon and oxygen isotope data. The calcareous interbeds consist of mixed sediments, which are dominated by bioclastic limestones containing terrigenous clasts, along with subordinate calcareous sandstone. The interbeds are densely cemented. The bioclasts are dominantly brachiopods, pleopods, and foraminifera, with minor amounts of echinodermata, bivalves, red algae, ostracods, and bryozoa. Diagenesis involved calcitic cementation, associated with relatively weak compaction. Carbon and oxygen isotopic data indicate the pore water that formed the carbonate cement was mostly sourced from seawater and minor amounts of meteoric water. The degree of carbonate cementation was significantly related to the bioclast content. On the basis of our study, a genetic model for the macroscopic and microscopic formation of calcareous interbeds is proposed. [ABSTRACT FROM AUTHOR]

WAG/Rij rats are a valid model of absence epilepsy and comorbid depression. We have previously shown that WAG/Rij rats have disturbances in the sleep–wake cycle and changes in the characteristics of sleep spindles. A negative correlation was also found between the number of spike-wave discharges (SWD) and the duration of rapid eye movement (REM) sleep. Clinical evidence suggests that the traditional antidepressants imipramine and fluoxetine are effective in suppressing symptoms of depression, but may have a negative impact on the sleep–wake cycle and comorbid epilepsy in patients. Our previous studies in WAG/Rij rats showed that imipramine, when administered chronically, increases the number of SWDs, while fluoxetine at the same dose reduces their number, although both antidepressants have a pronounced antidepressant effect. Comparison of the effects of the antidepressants imipramine and fluoxetine on the sleep–wake cycle and sleep spindles in WAG/Rij rats remains unstudied. The purpose of this work is to find out: (1) what effects do imipramine and fluoxetine have on the sleep–wake cycle and the characteristics of sleep spindles in WAG/Rij rats and (2) whether there are differences in their effects. To achieve this goal, the characteristics of the sleep–wake cycle and sleep spindles were compared in WAG/Rij rats after chronic administration of antidepressants and saline and in non-epileptic Wistar rats. Administration of imipramine led to a significant decrease in the duration of REM sleep. The administration of imipramine, compared with fluoxetine, also increased the latency of the transition to sleep and the transition to REM sleep. Sleep spindle amplitude was significantly increased by both antidepressants. However, the spectral power density of "slow" and "medium" spindles, which predominate in WAG/Rij rats compared to Wistar rats, was significantly higher after administration of imipramine than fluoxetine. The results suggest that imipramine causes greater negative changes in the sleep–wake cycle and sleep spindles than fluoxetine. Studies in the WAG/Rij rat model indicate that fluoxetine is more preferable antidepressant for the treatment of depressive disorders comorbid with absence epilepsy, since it does not cause a significant deterioration in sleep quality. These results are consistent with clinical data. [ABSTRACT FROM AUTHOR]

This document is an erratum published in the journal Frontiers in Oncology. It corrects mistakes in the names of figures in a previously published article titled "Pertinence of glioma and single nucleotide polymorphism of TERT, CCDC26, CDKN2A/B, and RTEL1 genes in glioma: a meta-analysis." The corrected figures are provided in the document. The erratum was published on March 11, 2024, and is open access. [Extracted from the article]

Background: Previous genetic-epidemiological studies considered TERT (rs2736100), CCDC26 (rs4295627), CDKN2A/B (rs4977756) and RTEL1 (rs6010620) gene polymorphisms as the risk factors specific to glioma. However, the data samples of previous genetic-epidemiological studies are modest to determine whether they have definite association with glioma. Method: The study paid attention to systematically searching databases of PubMed, Embase, Web of Science (WoS), Scopus, Cochrane Library and Google Scholars. Meta-analysis under 5 genetic models, namely recessive model (RM), over-dominant model (O-DM), allele model (AM), co-dominant model (C-DM) and dominant model (DM) was conducted for generating odds ratios (ORs) and 95% confidence intervals (CIs). That was accompanied by subgroup analyses according to various racial groups. The software STATA 17.0 MP was implemented in the study. Result: 21 articles were collected. According to data analysis results, in four genetic models (AM, RM, DM and C-DM) TERT gene rs2736100 polymorphism, CCDC26 gene rs4295627 polymorphism, CDKN2A/B gene rs4977756 polymorphism and RTEL1 gene rs6010620 polymorphisms increased the risk of glioma in Caucasians to different degrees. In Asian populations, the CCDC26 gene rs4295627 polymorphism and CDKN2A/B gene rs4977756 polymorphism did not exhibit a relevance to the risk of glioma. It is suggested to cautiously explain these results as the sample size is small. Conclusion: The current meta-analysis suggested that the SNP of TERT (rs2736100), CCDC26 (rs4295627), CDKN2A/B (rs4977756) and RTEL1 (rs6010620) genes in glioma might increase risk of glioma, but there are ethnic differences. Further studies evaluating these polymorphisms and glioma risk are warranted. [ABSTRACT FROM AUTHOR]

Many genetic models (including models for epistatic effects as well as genetic-by-environment) involve covariance structures that are Hadamard products of lower rank matrices. Implementing these models requires factorizing large Hadamard product matrices. The available algorithms for factorization do not scale well for big data, making the use of some of these models not feasible with large sample sizes. Here, based on properties of Hadamard products and (related) Kronecker products, we propose an algorithm that produces an approximate decomposition that is orders of magnitude faster than the standard eigenvalue decomposition. In this article, we describe the algorithm, show how it can be used to factorize large Hadamard product matrices, present benchmarks, and illustrate the use of the method by presenting an analysis of data from the northern testing locations of the G × E project from the Genomes to Fields Initiative (n ∼ 60,000). We implemented the proposed algorithm in the open-source "tensorEVD" R package. [ABSTRACT FROM AUTHOR]

Background: Diabetes is one of the four major types of non-communicable disease which has reached the epidemic proportions leading to major public health problems and concern. Several studies have shown the impact of genetic variations on diabetes pathogenesis. KCNJ11 gene has been associated with T2DM. Any variation in this gene disrupts the insulin release from β cells ultimately causing diabetes. Aim: The present research aims to resolve whether genetic variants of KCNJ11 have association with susceptibility to T2DM in the North Indian population. Method: PCR-RFLP technique was used to genotype 200 subjects for rs5219 genetic variant of KCNJ11 gene. Student's t test and chi square test (χ2) were used to evaluate continuous and categorical variables. Association of KCNJ11genotypes with T2DM was done by odds ratio (OR) and confidence interval (CI). All statistical analyses were performed using IBM SPSS-21 software. Results: Environmental factors such as smoking and lack of exercise increase the risk for T2DM (OR>1). The genotype frequency distribution for KCNJ11 rs5219 SNP was in Hardy-Weinberg equilibrium (HWE) for both control (p-value-0.96) and T2DM case group (p-value-0.685). rs5219 was associated with T2DM in dominant genetic model (p-value- <0.001; OR- 3.781) and recessive genetic model (p-value- <0.001; OR- 3.740). It was found that T allele was a risk allele that increases susceptibility for T2DM. Conclusion: This study elucidated that rs5219 genetic variant of KCNJ11 may increase the susceptibility for T2DM and TT genotype might be involved in predisposing individuals for development of disease. [ABSTRACT FROM AUTHOR]

China is rich in geothermal resources, especially in Fujian Province, where 207 exposed hot springs have been discovered. The maximum temperature recorded in geothermal wells is above 121 °C in this province, indicating a high geothermal resource potential. However, large-scale breakthroughs in geothermal exploration are hindered by a lack of clear geothermal genetic models. In this study, the genetic model of a fault-controlled medium–low-temperature convection geothermal zone in the Fujian coastal area was determined by considering the tectonic characteristics of the area and the hydrochemical characteristics of the geothermal fluid (recharge, runoff and discharge characteristics, geothermal reservoir temperature, geothermal fluid circulation depth and renewability). The results showed that the exposed hot springs and high-temperature geothermal boreholes were concentrated in the Fu'an–Nanjing and Changle–Zhao'an fault zones. At the intersection or fault-bend of these two fault zones, there was strong stress release and activity, as demonstrated in the exposed parts of the high-temperature geothermal resources. The Changle–Zhao'an fault zone had a greater circulation depth, with an average heat storage temperature of 140 °C, reflecting high geothermal resource potential. Considering the current temperature of the hot springs, Xiamen Bay and Nanjing–Jiulong River were identified as the next geothermal development zones.

AIM:To explore the effect of genetic factors on the pathogenesis of keratoconus and its genetic model.METHODS: Genetic epidemiological methods were used to investigate the prevalence of keratoconus in 280 first-degree relatives of 100 patients with keratoconus who attended Henan Eye Hospital between July 2020 and April 2023. The heritability was estimated by Falconer regression method. The general genetic model was calculated using Penrose method, and the genetic model was confirmed by Falconer formula, Edwards approximation formula and the projection formula of San-Duo Jiang's threshold model theory.RESULTS: The results showed that there were 16(5.714%)first-degree relatives of keratoconus probands suffering from keratoconus, and the heritability of keratoconus was(86.100±7.400)%. The S/q score calculated by the Penrose method was 35.348, which was near to 1/(q)1/2, suggesting that the genetic model of keratoconus might be polygenic inheritance. The expected prevalence in first-degree relatives of keratoconus patients by Falconer formula, Edwards approximation formula and the projection formula of San-Duo Jiang's threshold model theory were 5.900%, 7.714% and 5.700%, respectively, which showed no significant differences from the actual prevalence(5.714%), suggesting that keratoconus was a polygenetic disease.CONCLUSION:Genetic factors might play an important role in the pathogenesis of keratoconus, and keratoconus is a polygenetic disease.

Thin layers and high-yield dolomite reservoirs were recently discovered in the Permian Guadeloupian Maokou Formation. The genetic mechanism of this reservoir is controversial because of its complex sedimentation and diagenesis in the Maokou Formation. Traditionally, the genesis has focused on sedimentation, karst, and fracture, whereas the influence of the Emeishan mantle plume activity (EMP) has been ignored. In this study, we enumerated petrographic (grouped into micritic bioclastic limestone, limy dolomite, grain dolomite, dolomite cement, calcite cement, and saddle dolomite) and geochemical data (δ13C, δ18O, REE, and 87Sr/86Sr) from a microscopic perspective to support the impact of EMP on reservoirs. We conclude that EMP activity altered the sedimentary environment and induced a complex diagenesis. The paleogeomorphic reconstruction data indicate that the EMP caused an uplift zone in the NE–SW direction, depositing advantageous high-energy beach facies. In terms of diagenesis, the abnormally high 87Sr/86Sr ratios and REE with positive Eu anomalies suggest that dolomitization was influenced by both seawater and hydrothermal fluids. Based on the above evidence, we established a reservoir genetic model for the Maokou Formation related to the intensity of the EMP. This study provides a new perspective on the mantle plume activity for the study of carbonate reservoir genesis. [ABSTRACT FROM AUTHOR]

Accurate and effective quantitative trait locus（QTL）mapping is the prerequisite for gene cloning and molecular breeding. Plant growth and development are affected by external environmental factors, and phenotypes at different developmental stages are formed due to the dynamic expressions of different major genes or QTLs. The conventional gene/QTL analysis based on the phenotypic data collected at stationary growth phase can only be used to estimate the cumulative effects of QTLs over a long period of time. It cannot reveal the actual effects and functional modes of the loci during the developmental process. Besides, the static QTL mapping method neglected the dynamic expression patterns of QTLs, leading to missing of information about dynamic variations of quantitative traits. Dynamic QTL analysis of the whole growth cycle provides an elite strategy for investigating the genetic mechanisms and dissecting major QTLs underlying plant growth and development. In this review, we briefly summarized the genetic models and analytical methods for dynamic QTL detection, as well as the research progress on mapping quantitative traits of plant development. We further proposed the current issues and future trends in the area of dynamic QTL analysis, which would provide references not only for dynamic QTL analysis during plant growth and development but also for molecular breeding based on marker-assisted selection. [ABSTRACT FROM AUTHOR]

Petioles of non-heading Chinese cabbage are not only an important edible part but also a conduit for nutrient transport, holding significant agricultural and research value. In this study, we conducted a comprehensive genetic analysis of petiole-related traits using a segregating population. Modern quantitative genetic approaches were applied to investigate the genetic regulation of petiole thickness. The results indicated that petiole thickness is a quantitative trait, and the identified genetic model was consistent with two pairs of additive-dominant main genes and additive-dominant polygenes (2MG-AD). BSA-seq analysis identified a major effect of QTL controlling petiole thickness on chromosome A09: 42.08–45.09 Mb, spanning 3.01 Mb, designated as QTL-BrLH9. Utilizing InDel markers, the interval was narrowed down to 51 kb, encompassing 14 genes with annotations for 10 of them. Within the interval, four mutated genes were detected. Combined with gene annotation, protein sequence analysis, and homology alignment, it was found that BraA09g063520.3C's homologous gene SMXL6 in Arabidopsis (Arabidopsis thaliana (L.) Heynh) is an inhibitor of the coding and synthesis of the strigolactone pathway. Strigolactone (SLs) plays an important role in plant growth and development. The cloning results showed that multiple frameshift mutations and non-synonymous mutations occurred on the exon. The qPCR results showed that the expression of the gene was significantly different between the two parents at the adult stage, so it was speculated that it would lead to changes in petiole thickness. BraA09g063520.3C was predicted as the final candidate gene. [ABSTRACT FROM AUTHOR]

Peanut (Arachis hypogaea L.) is one of the important cash crops in China, and about 40% of peanuts are used for food production. The sucrose content was positively correlated with the flavor and taste of peanut and its products, thus increasing sucrose content in kernel was significant for the promotion of peanut quality. In this study, two F2:3 populations (NYBPXSYT5-1 and 19-1934XJHT1) were constructed to investigate the genetic model of sucrose content, and analyze the correlations between sucrose content with oil content, protein content, and other seed traits. The results showed that the sucrose contents of peanut kernel in two populations were continuously distributed and abundantly varied, and the transgressive segregation phenomenon were observed. In the two populations, sucrose content was significantly negatively correlated with oil content but significantly positively correlated with protein content. However, the correlations between sucrose content and kernel length, kernel width, and 100-kernel weight were inconsistent. The genetic analysis in two populations showed that the sucrose content in peanut kernel was mainly regulated by two pairs of main genes with the additive effect and dominant effect. There was the interaction between the two main genes, as well as the additive effect. This study initially reveals the genetic regulation of sucrose content in peanut kernels, which is beneficial for the breeding of edible peanut varieties and the cultivation of special varieties. [ABSTRACT FROM AUTHOR]

Purpose. In this paper, we discuss the genetic model and emphasize many pending issues on the carbonate replacement textures of the Amensif Zn-Pb-Cu-Ag±Au-Bi deposit (the Western High Atlas, Morocco), the source of metal and the possible contribution of the Azegour granite to this ore genesis. Methods. This study is based on geological mapping, drill core and petrography analysis in combination with ICP-AES, XRD, and SEM data. Findings. The detailed mineralogy consists mainly of sulfides and sulfosalts. The main ore minerals include arsenopyrite, pyrite, sphalerite, chalcopyrite, galena and bismuthinite. Mineral inclusions related to isomorphic sulfosalts are found in galena and/or chalcopyrite. They include matildite, galenobismutite, pavonite, cosalite, schirmerite, krupkaite, ramdohrite, wittichenite, emplectite, luzonite, gustavite, hedleyite, krennerite, wittite, freibergite, tetrahedrite, tennantite and native bismuth. The supergene minerals are anglesite, covellite, malachite, azurite and goethite. In addition, specific replacements are observed between dolomites and sulfides, indicating an interaction between hydrothermal fluid and host rocks. Four ore stages have been identified based on the relationship between mineral phases and ore-forming conditions. The results of this study indicate that Ag and Au precipitation is controlled by the Bi-Te-Pb-S system, while enrichment in Bi, Te and Se sulfosalts and Bitelluride indicates a magmatic source of the ore-forming fluid. Originality. The study delves into the genetic model of the Amensif Zn-Pb-Cu-Ag±Au-Bi deposit in the Western High Atlas, Moroc-co, with a focus on carbonate replacement textures, while also exploring its classification as either a carbonate replacement deposit or a skarn deposit. Practical implications. Mineral textures are indicators of the replacement process in the Amensif Zn-Pb-Cu-Bi-Ag±Au carbonate replacement deposit (the Western High Atlas, Morocco). The results obtained from this research paper can be used as a powerful tool in mineral exploration of the Western High Atlas. [ABSTRACT FROM AUTHOR]

Geogas-carried metal prospecting, an integral part of deep-penetrating geochemistry, is potentially effective in the geochemical exploration of concealed ore deposits. However, its principles and applicability remain controversial. This study summarizes and discusses the progress in geogas-carried metal prospecting in China. The method comprises three constituents: geogas, nanoparticles, and their vertical transportation. Researchers have failed to determine the exact contributions of different sources of geogas. Studies on Pb isotopes, rare earth element patterns of geogas, the comparisons between metals in soil, geogas, and ore geochemistry, and characteristics of nanoscale metals in earthgas (NAMEG), confirmed the relationship between NAMEG and concealed ore deposits. A statistical analysis of field experiments and applications showed that geogas-carried metal prospecting is applicable for the geochemical exploration of magmatic and hydrothermal Cu, Au, Zn, Pb, U, Sn, and Ag deposits and is suitable for most geochemical landscapes except deserts and cold swamps. Finally, genetic models of NAMEG anomalies were constructed. High-permeability migration channels are critical in the formation of NAMEG anomalies over concealed ore deposits. Future work entails applying geogas-carried metal prospecting to certain types of ore deposits and geochemical landscapes and studying NAMEG to provide quantitative information for targeting concealed ore deposits. [ABSTRACT FROM AUTHOR]

The cock exchange program, under delineated geographical location, is one of the best strategies to introduce the desired genes into a local chicken gene pool. It also has success stories in performance improvement of the local chicken population under smallholder management conditions. A cock exchange program, to be effective, should be complemented with improved chicken management practices (Increased amounts of alternate feed, enhanced management, and disease control). [ABSTRACT FROM AUTHOR]

The Aedes Aegypti mosquito is the primary vector that can transmit diseases to humans such as zika, dengue fever, chikungunya, and yellow fever. This mosquito species is controlled to reduce the frequency of its bites on humans. Several methods have been developed to control mosquito populations, ranging from natural insecticides to artificial ones. However, the impact of these insecticides leads to resistance. Wolbachia bacteria as a promising alternative in reducing the spread of viruses on humans due to free resistance. This work constructs a genetic population model in the form of differential equation system that describes mosquito population dynamics by involving random mating between mosquito populations with and without Wolbachia bacteria. The stability of the equilibrium was analyzed locally here. Numerical simulations and sensitivity analyzes are presented to confirm the analytical results and investigate the effect of the parameters involved on the model. The results show that the success of the expansion of Wolbachia-infected mosquitoes depends on the fitness level of the mosquito species. The more Wolbachia mosquitoes are released into nature, the more possibility this mosquito expansion will be successful.

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Objective To analyze the genetic polymorphisms of phosphatidylinositol-specific phosphodiesterase 2 (PLCL2) at rs2014490, rs9824172, rs4685423, and rs4618210 loci and their relationships with large atherosclerotic ar‑ tery (LAA) stroke. Methods The genotypes of PLCL2 gene (rs2014490, rs9824172, rs4685423, and rs4618210) were detected by flight mass spectrometry in 105 patients with LAA stroke (the case group) and 103 healthy subjects in the same period (the control group), and the genotype frequencies and related allele frequencies were calculated; the frequen‑ cy distribution of alleles was compared with that of the control group. Based on genetic model (codominant model, domi‑ nant model, recessive model, and overdominant model), unconditional Logistic regression analysis was used to explore the relationships between rs2014490, rs9824172, rs4685423, rs4618210 polymorphisms of PLCL2 gene and LAA stroke. Results According to the Hardy-Weinberg genetic equilibrium test, the population included in this study had good popula‑ tion representativeness. The genotypes of PLCL2 rs2014490 locus were GG, AG, and AA, accounting for 29. 1%, 42. 7%, and 28. 2% in the case group, respectively; these three genotypes accounted for 21. 5%, 52%, and 26. 5% in the control group, respectively. G and A gene frequencies accounted for 50. 5% and 49. 5% in the case group and accounted for 47. 5% and 52. 5% in the control group, respectively. No significant differences were found in the genotype frequencies or allele frequencies between these two groups (all P>0. 05). The genotypes of the PLCL2 rs9824172 locus were GG, GT, and TT, accounting for 26. 7%, 40%, and 33. 3%, in the case group, respectively, and 24. 3%, 50. 5%, and 25. 2% in the control group, respectively. G and T gene frequencies accounted for 46. 7%, 53. 3% in the case group, and 49. 5%, 50. 5%, in the control group, respectively. No significant differences were found in the genotype frequencies or allele fre‑ quencies between these two groups (all P>0. 05). The genotypes of PLCL2 rs4685423 locus were AA, CA, and CC, ac‑ counting for 28. 8%, 35. 6%, and 35. 6% in the case group, respectively, and 23. 8%, 51. 5%, and 24. 7% in the control group, respectively. A and C gene frequencies accounted for 46. 6%, 53. 4% in the case group, respectively, and 49. 5%, 50. 5%, in the control group, respectively. No significant differences were found in the genotype frequencies and allele frequencies between these two groups (all P>0. 05). The genotypes of the PLCL2 rs4618210 locus were AA, GA, and GG, accounting for 16. 7%, 49%, and 34. 3%, in the case group, respectively, and 22. 68%, 45. 36%, and 31. 96%, in the control group, respectively. A and G gene frequencies accounted for 41. 2% and 58. 8% in the case group, respectively, and 45. 4% and 54. 6%, in the control group, respectively. No significant differences were found in the genotype frequencies and allele frequencies between these two groups (all P>0. 05). The analysis results based on the overdominant mode showed that the PLCL2 gene rs4685423 locus was correlated with the risk of LAA stroke [OR=0. 52, 95% CI (0. 30-0. 91), P<0. 05] ; analysis results based on the codominant model, dominant model, and recessive model showed that the PLCL2 gene rs4685423 locus was not correlated with the risk of LAA stroke. The results of analysis based on the codominant model, dominant model, recessive model, and overdominant model showed that there was no correla‑ tion between PLCL2 gene rs2014490, rs9824172, and rs4618210 loci or the risk of LAA stroke (all P>0. 05). Conclusions The PLCL2 rs2014490, rs9824172, rs4685423, rs4618210 loci of the case group and control group all have the highest proportion of mutant heterozygotes. The individuals with PLCL2 rs4685423 locus homozygote (CC+AA type) and individuals carrying heterozygote (CA) are more likely to suffer from LAA stroke. [ABSTRACT FROM AUTHOR]

Background: Previous genetic-epidemiological studies considered TERT (rs2736100), CCDC26 (rs4295627), CDKN2A/B (rs4977756) and RTEL1 (rs6010620) gene polymorphisms as the risk factors specific to glioma. However, the data samples of previous genetic-epidemiological studies are modest to determine whether they have definite association with glioma. Method: The study paid attention to systematically searching databases of PubMed, Embase, Web of Science (WoS), Scopus, Cochrane Library and Google Scholars. Meta-analysis under 5 genetic models, namely recessive model (RM), over-dominant model (O-DM), allele model (AM), co-dominant model (C-DM) and dominant model (DM) was conducted for generating odds ratios (ORs) and 95% confidence intervals (CIs). That was accompanied by subgroup analyses according to various racial groups. The software STATA 17.0 MP was implemented in the study. Result: 21 articles were collected. According to data analysis results, in four genetic models (AM, RM, DM and C-DM) TERT gene rs2736100 polymorphism, CCDC26 gene rs4295627 polymorphism, CDKN2A/B gene rs4977756 polymorphism and RTEL1 gene rs6010620 polymorphisms increased the risk of glioma in Caucasians to different degrees. In Asian populations, the CCDC26 gene rs4295627 polymorphism and CDKN2A/B gene rs4977756 polymorphism did not exhibit a relevance to the risk of glioma. It is suggested to cautiously explain these results as the sample size is small. Conclusion: The current meta-analysis suggested that the SNP of TERT (rs2736100), CCDC26 (rs4295627), CDKN2A/B (rs4977756) and RTEL1 (rs6010620) genes in glioma might increase risk of glioma, but there are ethnic differences. Further studies evaluating these polymorphisms and glioma risk are warranted. [ABSTRACT FROM AUTHOR]

The Reshui area, located to the northeast of the Qinghai–Tibet Plateau, exhibits complex geological conditions, well-developed structures, and strong hydrothermal activities. The distribution of hot springs within this area is mainly controlled by faults. In this paper, five hot springs from the area were taken as the research object. We comprehensively studied the geochemical characteristics and genetic mechanism of the geothermal water by conducting a field investigation, hydrogeochemistry and environmental isotopic analysis (87Sr/86Sr, δ2H, δ18O, 3H). The surface temperature of the geothermal water ranges from 84 to 91 °C. The geothermal water in the area exhibits a pH value ranging between 8.26 and 8.45, with a total dissolved solids' (TDS) concentration falling between 2924 and 3140 mg/L, indicating a weakly alkaline saline nature. It falls into the hydrochemical type CI-Na and contains a relatively high content of trace components such as Li, Sr, B, Br, etc., which are of certain developmental value. Ion ratio analysis and strontium isotope characteristics show that the dissolution of evaporite minerals and carbonate minerals serves as a hot spring for the main source of solutes. Hydrogen and oxygen stable isotope characteristics findings indicate that the geothermal water is primarily recharged via atmospheric precipitation. Moreover, the tritium isotopic data suggest that the geothermal water is a mixture of both recent water and ancient water. Moreover, the recharge elevation is estimated to be between 6151 and 6255 m. and the recharge area is located in the Kunlun Mountains around the study area. The mixing ratio of cold water, calculated using the silicon enthalpy equation, is approximately 65% to 70%. Based on the heat storage temperature calculated using the silicon enthalpy equation and the corrected quartz geothermal temperature scale, we infer that the heat storage temperature of geothermal water in the area ranges from 234.4 to 247.8 °C, with a circulation depth between 7385 and 7816 m. The research results are highly valuable in improving the research level concerning the genesis of high-temperature geothermal water in Reshui areas and provide essential theoretical support for the rational development and protection of geothermal resources in the area. [ABSTRACT FROM AUTHOR]

Olmsted syndrome (OS) is an extremely rare hereditary skin disease, that is usually characterized by mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques. The diagnosis of this disease depends primarily on the clinical presentation and OS has to be differentiated from other disorders associated with hyperkeratosis. In recent years, there have been many advances in molecular genetic research on the pathogenesis of the disease. The genes that can cause disease after specific mutations include TRPV3, MBTPS2/S2P and PERP. Therefore, genetic testing has become one of the important methods for the diagnosis of this disease.OS treatment is difficult, and conventional therapy uses topical drugs to soften the cuticle of the skin, or oral Avi A.Excision of palmoplantar keratosis may also be used for constricting rings that severely restrict movement, but they often reoccur after initial improvement. In terms of precision treatment, researchers have tried the small molecule drugs erlotinib and sirolimus and have achieved some results. This paper summarizes the etiology, pathogenesis, clinical manifestations, diagnosis, treatment and prognosis of OS, in order to improve the clinicans' awareness of OS.

Abstract Background Angina pectoris (AP) occurs when oxygen and other nutrients are insufficient to meet the metabolic needs of the heart muscle. Stable angina is the most common, while the unstable angina is less frequent. Tumor necrosis factor alpha (TNF-alpha) is a pleiotropic cytokine plays a vital function in the immune response regulation. TNF gene cluster contains many polymorphisms; the most commonly investigated polymorphism is the rs1800629 SNP. This SNP, located at − 308 position with regard to the TNF promoter region, replaces guanine (G) with adenine (A), with the allelic types − 308 G/A, and has been linked to a variety of inflammatory condition and autoimmune diseases. The − 308 G/A SNP was investigated in AP and interconnected to the TNF level to figure out the responsibilities of TNF-alpha gene polymorphism in the pathogenesis of AP. Method The current work design as a case–control study that involves 300 participant divided to 200 patients evaluated as (stable angina n = 100 and unstable angina n = 100) compared with 100 apparently healthy control subjects. The serum level of TNF-alpha was assessed via enzyme-linked immunosorbent assay (ELISA)/sandwich method. The genotype and allele frequency distribution of TNF-alpha rs1800629 gene polymorphism were investigated by TaqMan probe of allelic discrimination method. Results The levels of TNF-alpha were significantly higher in patients with stable and unstable angina pectoris in comparison with controls. The deviation from Hardy–Weinberg equilibrium (HWE) of TNF-alpha genotypes was obvious in control and unstable angina pectoris groups. Moreover, the significant differences between patients with AP and controls under the five genetic models consider the association between TNF-alpha (rs1800629) − 308 G/A and AP with OR > 1. However, data analysis of allelic and genotypic of (rs1800629) − 308 G/A revealed higher significantly differences of GG homozygous and GA heterozygous proportions between stable angina patients and control. The A allele was more represented as etiological allele, and G allele was represented as protective allele. The serum levels of TNF-alpha were significantly higher in subjects with genetically mutated AA genotypes than in subjects with wild GG genotypes in the study groups. ROC curve analysis found the best cutoff value of TNF-alpha level was 77.25 pg/ml. Conclusion As the results, our data observed a linked of TNF-alpha (rs1800629) − 308 G/A genetic variant with angina pectoris patients, and the A allele has been linked to the production or expression of TNF-alpha serum level and represented an etiological factor of angina pectoris.

Copyright of Geology & Resources is the property of Geology & Resources Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Parkinson’s disease (PD) relates to defective mitochondrial quality control in the dopaminergic motor network. Genetic studies have revealed that PINK1 and Parkin mutations are indicative of a heightened propensity to PD onset, pinpointing mitophagy and inflammation as the culprit pathways involved in neuronal loss in the substantia nigra (SNpc). In a reciprocal manner, LRRK2 functions in the regulation of basal flux and inflammatory responses responsible for PINK1/Parkin-dependent mitophagy activation. Pharmacological intervention in these diseasemodifying pathways may facilitate the development of novel PD therapeutics, despite the current lack of an established drug evaluation model. As such, we reviewed the feasibility of employing the versatile global Pink1 knockout (KO) rat model as a self-sufficient, spontaneous PD model for investigating both disease etiology and drug pharmacology. These rats retain clinical features encompassing basal mitophagic flux changes with PD progression. We demonstrate the versatility of this PD rat model based on the incorporation of additional experimental insults to recapitulate the proinflammatory responses observed in PD patients. [ABSTRACT FROM AUTHOR]

The PTEN-induced putative kinase 1 knockout rat (Pink1-/-) is marketed as an established model for Parkinson's disease, characterized by development of motor deficits and progressive degeneration of half the dopaminergic neurons in the substantia nigra pars compacta by 8 months of age. In this study, we address our concerns about the reproducibility of the Pink1-/- rat model. We evaluated behavioural function, number of substantia nigra dopaminergic neurons and extracellular striatal dopamine concentrations by in vivo microdialysis. Strikingly, we and others failed to observe any loss of dopaminergic neurons in 8-month-old male Pink1-/- rats. To understand this variability, we compared key experimental parameters from the different studies and provide explanations for contradictory findings. Although Pink1-/- rats developed behavioural deficits, these could not be attributed to nigrostriatal degeneration as there was no loss of dopaminergic neurons in the substantia nigra and no changes in neurotransmitter levels in the striatum. To maximize the benefit of Parkinson's disease research and limit the unnecessary use of laboratory animals, it is essential that the research community is aware of the limits of this animal model. Additional research is needed to identify reasons for inconsistency between Pink1-/- rat colonies and why degeneration in the substantia nigra is not consistent.

Exploring genetic mechanism of the first female flower node and the first male flower node in bitter gourd has practical significance for formulating breeding strategy. In this article, a cross was made between CN19-1 and Thai4-6, and the F2 segregation population was also constructed through F-selfing. The genetic characteristics of the first female flower node and the first male flower node were analyzed by adopting the major gene plus polygene mixed genetic model. The data analysis results showed that the first female flower node and the first male flower node were continuous distribution in the F2 segregation population. E-2 model was the most suitable model for the genetic analysis of the first female flower node and the first male flower node. The additive effect values of the 2 pairs of major genes controlling the first female flower node were 2.722 and 1. 862 8 respectively, the dominant effect values were -2.721 6 and -0.171 8, respectively. The additive effect value of polygene was - 0.839 2, and the dominant effect value of polygene was 2. 225 4. The heritability of major genes and polygene were 83.73% and 1.54%, respectively. The additive effect values of the 2 pairs of major genes controlling the first male flower node were 17. 746 9 and 3. 972, respectively, the dominant effect values were 5.191 6 and -3. 972, respectively. The additive effect value of polygene was -20. 530 5, and the dominant effect value was -4. 141 4. The heritability of major genes and polygene was 92. 34% and 4. 7%, respectively. This study could provide a theoretical basis for bitter gourd breeding. [ABSTRACT FROM AUTHOR]

Background: Angina pectoris (AP) occurs when oxygen and other nutrients are insufficient to meet the metabolic needs of the heart muscle. Stable angina is the most common, while the unstable angina is less frequent. Tumor necrosis factor alpha (TNF-alpha) is a pleiotropic cytokine plays a vital function in the immune response regulation. TNF gene cluster contains many polymorphisms; the most commonly investigated polymorphism is the rs1800629 SNP. This SNP, located at − 308 position with regard to the TNF promoter region, replaces guanine (G) with adenine (A), with the allelic types − 308 G/A, and has been linked to a variety of inflammatory condition and autoimmune diseases. The − 308 G/A SNP was investigated in AP and interconnected to the TNF level to figure out the responsibilities of TNF-alpha gene polymorphism in the pathogenesis of AP. Method: The current work design as a case–control study that involves 300 participant divided to 200 patients evaluated as (stable angina n = 100 and unstable angina n = 100) compared with 100 apparently healthy control subjects. The serum level of TNF-alpha was assessed via enzyme-linked immunosorbent assay (ELISA)/sandwich method. The genotype and allele frequency distribution of TNF-alpha rs1800629 gene polymorphism were investigated by TaqMan probe of allelic discrimination method. Results: The levels of TNF-alpha were significantly higher in patients with stable and unstable angina pectoris in comparison with controls. The deviation from Hardy–Weinberg equilibrium (HWE) of TNF-alpha genotypes was obvious in control and unstable angina pectoris groups. Moreover, the significant differences between patients with AP and controls under the five genetic models consider the association between TNF-alpha (rs1800629) − 308 G/A and AP with OR > 1. However, data analysis of allelic and genotypic of (rs1800629) − 308 G/A revealed higher significantly differences of GG homozygous and GA heterozygous proportions between stable angina patients and control. The A allele was more represented as etiological allele, and G allele was represented as protective allele. The serum levels of TNF-alpha were significantly higher in subjects with genetically mutated AA genotypes than in subjects with wild GG genotypes in the study groups. ROC curve analysis found the best cutoff value of TNF-alpha level was 77.25 pg/ml. Conclusion: As the results, our data observed a linked of TNF-alpha (rs1800629) − 308 G/A genetic variant with angina pectoris patients, and the A allele has been linked to the production or expression of TNF-alpha serum level and represented an etiological factor of angina pectoris. [ABSTRACT FROM AUTHOR]

Alzheimer's disease is the most common type of dementia associated with cognitive decline, such as memory and visuospatial skills. Insufficiently effective treatments have prompted the creation of experimental animal models capable of reproducing the pathology of Alzheimer's disease, especially at the presymptomatic stage, to develop and explore preventive and therapeutic strategies. To date, none of the developed animal models fully reflects the entire spectrum of neuropathological and cognitive impairments observed in the development of Alzheimer's disease in humans. Nevertheless, each of these models allows, to one degree or another, investigating various aspects of the disease's pathogenesis, providing an understanding of the key pathological changes that may occur during its development. In this review, we summarize the neuropathological signs of Alzheimer's disease and their relationship with cognitive impairments in the animal models being currently in use. We also address in a comparative aspect the developmental features of Alzheimer-like neurodegeneration on the example of two models, genetic and injection, which will hopefully enable to determine optimal approach when choosing a model for solving research tasks. [ABSTRACT FROM AUTHOR]

As we have shown previously, a perinatal maternal methyl-enriched diet (MED) reduces the number of spike-and-wave discharges (SWDs) and behavioral symptoms of depression in an adult offspring of WAG/Rij rats. Epilepsy and depression are usually accompanied by sleep–wake disorders. SWDs and sleep spindles represent different manifestations of thalamocortical activity. It is assumed that pathological alterations in the thalamocortical system that lead to SWD alter sleep spindles as well. Probably, maternal MED has a positive effect not only on SWDs, but also on sleep spindles. The aim of this work was to find out whether maternal MED affects the sleep–wake cycle and whether it alters the characteristics of sleep spindles in adult offspring of WAG/Rij rats. It has been shown that in the offspring of WAG/Rij rats born to mothers fed on a MED during the perinatal period, the relative duration of REM sleep significantly increases compared to the offspring whose mothers consumed a control diet (CD). In the offspring of WAG/Rij rats whose mothers fed on a MED, the relative duration of REM sleep and the number of its episodes become indistinguishable from those in nonepileptic Wistar rats. Maternal MED also increases the number of transitions from slow-wave (non-REM) to REM sleep. There is a significant negative correlation between the number of SWDs and the duration of REM sleep. Maternal MED, as compared to CD, reduces the amplitude and spectral power density of sleep spindles; the latter become much closer to the amplitude and spectral power density of sleep spindles in Wistar rats. Thus, maternal MED normalizes characteristics of the sleep–wake cycle and sleep spindles in the adult offspring of WAG/Rij rats. We hypothesize that this positive effect is associated with a reduction in the symptoms of absence epilepsy and comorbid depression, as well as with the correction of thalamocortical activity. [ABSTRACT FROM AUTHOR]

Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and the most common preventable cause of development delay and growth failure if diagnosed and treated early. The thyroid is the first endocrine gland to develop during embryonic life and to be recognizable in humans. Thyroid development and maturation can be divided into 2 phases: a first phase of embryogenesis and a second phase of folliculogenesis and differentiation with thyroid hormone production at the final steps. Regulation of the thyroid function requires normal development of the hypothalamic-pituitary-thyroid axis, which occurs during the embryonic and neonatal period. Defects in any of steps of thyroid development, differentiation, and regulation lead to permanent CH. Newborn screening programs, established in only one-third of countries worldwide, detect CH and are cost-effective and highly sensitive and specific. During the last decade, epidemiology of CH has changed with increased frequency of thyroid in situ in primary CH. Advances in molecular testing have expanded knowledge and understanding of thyroid development and function. However, a molecular cause is identified in only 5% of CH due to thyroid dysgenesis. The purpose of this article is to describe the clinical approach to the child with CH, focusing on diagnostic work-up and future challenges on optimizing thyroid replacement therapy and regenerative medicine. The review is written from the perspective of the case of 2 girls referred for CH after newborn screening and diagnosed with thyroid ectopy. The genetic work-up revealed novel mutations in TUBB1 gene, associated with large platelets and abnormal platelet physiology. [ABSTRACT FROM AUTHOR]