13 results on '"Song, Tingting"'
Search Results
2. Association Between Early Parental Death and Loneliness in Adulthood: A Community-Based Study in Southwest China.
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Peng, Anjiao, Lai, Wanlin, He, Shixu, Li, Wanling, Song, Tingting, Ji, Shuming, Zhao, Xia, and Chen, Lei
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PARENTAL death ,EARLY death ,LONELINESS ,MENTAL illness ,ADULTS - Abstract
Loneliness is a growing public health problem that threatens physical and mental health to a large extent. Compelling evidence has shown that premature parental death is strongly associated with many mental health disorders in adulthood, but whether it increases the risk of loneliness remains unclear. In this large community-based study, we included 32,682 adult participants (20–93 years old) from Southwest China and used the three-item short version of University of California, Los Angeles, Loneliness Scale to identify participants with loneliness. A total of 1,975 participants reported loneliness, which resulted in a loneliness prevalence of 6.0% in Southwest China. Logistic regression was used to evaluate the association between early parental death and loneliness after adjusting for age, gender, education level, marital status, smoking and drinking status, living status, and chronic diseases. We found that early parental death was significantly associated with loneliness [odds ratio (OR) = 1.21, 95% confidence interval (CI), 1.03–1.42]. A Sensitivity analysis excluding those with mental health disorders (796 participants) yielded similar results (OR = 1.26, 95% CI = 1.06–1.49). We also found that being younger, single, divorced, or widowed, and more educated; living alone; and having chronic disorders were associated with loneliness. We conclude that childhood parental death is associated with loneliness in adulthood, suggesting the need for early intervention in affected children to prevent long-term adverse neuropsychiatric effects. [ABSTRACT FROM AUTHOR]
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- 2022
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3. Model optimization for geographical discrimination of Lentinula edodes based stable isotopes and multi-elements in China.
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Song, Tingting, Xia, Zhenzhen, Liu, Cuiling, Nie, Jing, Zhou, Youxiang, Wadood, Syed Abdul, Zhang, Yongzhi, Li, Chunlin, Rogers, Karyne M., and Yuan, Yuwei
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STABLE isotopes , *SULFUR isotopes , *HYDROGEN isotopes , *CHEMICAL models , *OXYGEN isotopes - Abstract
Geographical origin discrimination of agricultural products is essential to guarantee food safety and fair trade. Lentinula edodes (Shiitake mushroom) samples cultivated in three major production regions in China were characterized using stable isotopes (δ 13C, δ 2H, δ 18O, δ 15N, and δ 34S) and elemental contents (%C, %N, %S, %protein and C/N ratios). Results showed that 9 of 10 analyzed Shiitake variables had significant differences among production regions. Due to the arid/dry climate and a large day-night alternating temperature difference, the protein content of L. edodes in northeast China is higher than in northern and southeast China. Sulfur isotopes (δ 34S) are useful indicators of origin for L. edodes in China and to evaluate its protein quality. Hydrogen and oxygen isotopes (δ 2H and δ 18O) are most effective for regional discrimination. Two PLS-DA(partial least-squares discriminate analysis) models were developed; one using only five stable isotopes (Model 1) and the other using five stable isotopes and three elemental contents (Model 2), respectively. Model 2 had a discrimination accuracy of 95.2%, which was higher 10% than Model 1. Chemometric classification models using chemical elements and multi-isotopes provide a useful method to authenticate Chinese Shiitake origins. • 9 analyzed Shiitake variables had significant differences among production regions. • The protein content of Shiitake mushroom in northeast China is higher than in northern and southeast China. • δ 34S are useful indicators of origin for L. edodes in China and to evaluate its protein quality. • The PLS-DA models using 8 elements provide a useful method to authenticate Chinese Shiitake origins. [ABSTRACT FROM AUTHOR]
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- 2023
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4. Interleukin-18 -137 G/C and -607 C/A polymorphisms and Alzheimer's disease risk: a meta-analysis.
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Zhang, Jiaojiao, Song, Tingting, Liang, Hua, Lian, Jie, Zhang, Guanjun, and Gong, Huilin
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ALZHEIMER'S disease , *BASAL ganglia diseases , *META-analysis , *PSYCHOMETRICS , *COMPARATIVE studies , *DISEASE susceptibility , *GENETIC polymorphisms , *INTERLEUKINS , *RESEARCH methodology , *MEDICAL cooperation , *RESEARCH , *BIBLIOGRAPHIC databases , *EVALUATION research , *CASE-control method - Abstract
The -137 G/C and -607 C/A polymorphisms in interleukin-18 (IL-18) gene have been reported to be associated with Alzheimer's disease (AD) risk, but the results are inconclusive. Considering a single study may lack the power to provide reliable conclusion, we performed a meta-analysis to investigate the association between the IL-18 -137 G/C and -607 C/A polymorphisms and AD susceptibility. A comprehensive literature search of PubMed, Embase, China National Knowledge Infrastructure (CNKI) and Wanfang databases were conducted before September 1, 2015. The pooled odds ratio (OR) with 95 % confidence intervals (CIs) were calculated. Five eligible studies with a total of 1536 subjects were finally included in this meta-analysis. For the IL-18 -137 G/C polymorphism, a significantly decreased risk was detected in patients carrying the C allele of -137 G/C in all study subjects in allele model (C vs. G: OR = 0.816, 95 % CI = 0.680-0.980, p = 0.029). Moreover, stratification by ethnicity indicated markedly association between the -137 G/C C allele and AD risk in Asians. For the IL-18 -607 C/A polymorphism, a significantly decreased risk was found in patients carrying the A allele of -607 C/A in all study subjects in dominant model (AA + CA vs. CC: OR = 0.696, 95 % CI = 0.529-0.915, p = 0.010). However, the results suggested no significant association between the -607 C/A polymorphism and AD susceptibility when stratified by ethnicity. Our present meta-analysis suggests that the C allele carrier of IL-18 -137 G/C was associated with decreased risk for AD in Asians. Further well-designed case-control studies with larger sample size and more ethnic groups are needed to confirm these conclusions. [ABSTRACT FROM AUTHOR]
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- 2016
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5. Emergy evaluation of a solar-powered cascade system for dehumidification, cooling and heating in hot summer and cold winter areas of China.
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Xu, Aixiang, Wang, Yizhang, Song, Tingting, Xiong, Yawen, Liu, Zhiqiang, and Yang, Sheng
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HOT weather conditions , *HUMIDITY control , *EMERGY (Sustainability) , *SOLAR radiation , *ATMOSPHERIC temperature , *SUMMER , *WINTER - Abstract
A solar-powered cascade system is proposed for dehumidification, cooling and heating in hot summer and cold winter areas of China. To evaluate the energy, environmental and economic sustainability of the system, the emergy evaluation of the proposed system is analyzed and compared with different energy sources. The effects of solar radiation intensity, air temperature and relative humidity on the emergy performance of the system are discussed. The results show that the input total emergy and transformity of the proposed system are 9.88 × 1016 sej/y and 4.75 × 105 sej/J, which are lower than that of the systems powered by other energy. The environmental load ratio and emergy sustainability index are the highest when the system is powered by solar energy, with the value reaching 1.33 and 1.66, respectively. According to parameter sensitivity analysis, the total emergy input decreases by 6.31% and the emergy saving ratio increases by 29.09% as the increase of solar radiation intensity. The system has the best emergy performance at air temperature of 26.18 °C. The system has lower environmental load and higher sustainability in lower relative humidity climate. This work proves the viability and sustainability of the novel cascade system. • A solar-powered system is proposed for dehumidification, cooling and heating. • Emergy analysis method is conducted to evaluate the sustainability of the system. • The environmental loading ratio and emergy sustainability index are 1.33 and 1.66. • The system has the optimal emergy performance at air temperature of 26.18 °C. • This work proves the viability of the system in HSCWA of China. [ABSTRACT FROM AUTHOR]
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- 2023
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6. Thermodynamic analyses of an innovative system combined dehumidification, cooling and heating driven by solar energy.
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Xu, Aixiang, Wang, Yizhang, Song, Tingting, Xie, Nan, Liu, Zhiqiang, and Yang, Sheng
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COOLING systems , *SOLAR energy , *HUMIDITY control , *SOLAR heating , *SOLAR radiation , *HOT weather conditions , *SUMMER , *HUMIDITY - Abstract
• A combined dehumidification, cooling and heating system is proposed for different seasons. • The proposed system utilizes solar energy in a cascade approach. • Effects of key parameters on thermodynamic performance are analyzed. • The maximum of moisture removal rate and humidity efficiency are 27.98 g/kg and 0.83. For the sake of improving the utilization of solar energy in hot summer and cold winter areas of China, an innovative system combined liquid dehumidification with absorption refrigeration driven by solar energy is proposed in this paper. Solar energy is applied to three subsystems in a cascade utilization approach. Energy, exergy, and dehumidification performances of the system in three typical seasons of hot summer and cold winter areas in China are analyzed and compared. The key parameters including solar radiation intensity, ambient temperature, segment temperature and air relative humidity are investigated to obtain the optimization design of the proposed system. The objective indicators, including dehumidification coefficient of performance, refrigeration coefficient of performance, exergy efficiency, moisture removal rate, humidity efficiency, cooling capacity and heating capacity are discussed, respectively. The results show that, as the ambient temperature and solar radiation intensity increase, the dehumidification coefficient of performance (CO P D) declines but the refrigeration coefficient of performance (CO P R) rises. The CO P D in rainy season is increased by 33.66 % and 50.15 % respectively, compared with that in cooling season and heating season. But the CO P R in cooling season is 35.32 % higher than that in rainy season. The minimum of CO P D reaches 1.31 at 12 noon. The maximum of CO P R in the proposed system is 0.95. The exergy efficiency of the proposed system is improved by combining the liquid dehumidification subsystem and absorption refrigeration subsystem, with the maximum reaching 16.64 %. The proposed system shows better dehumidification performance in rainy season, and the maximum moisture removal rate and humidity efficiency in the proposed system are 27.98 g/kg and 0.83. The proposed system is also used for cooling and heating, with the highest cooling capacity and heating capacity achieving 217.31 kW and 36.58 kW, respectively. The obtained results state that the proposed system has excellent performance for dehumidification, cooling, and heating in hot summer and cold winter areas of China. [ABSTRACT FROM AUTHOR]
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- 2023
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7. The impact of childhood parental loss on risk for depression and anxiety in adulthood: A community-based study in Southwest China.
- Author
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Peng, Anjiao, Qiu, Xiangmiao, Ji, Shuming, Hu, Dan, Dong, Bosi, Song, Tingting, Huang, Cheng, and Chen, Lei
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MENTAL illness , *ADULTS , *GENERALIZED anxiety disorder , *PARENTAL death , *ANXIETY , *ADJUSTMENT disorders , *RESEARCH , *RESEARCH methodology , *RETROSPECTIVE studies , *EVALUATION research , *COMPARATIVE studies , *MENTAL depression , *QUESTIONNAIRES , *ANXIETY disorders , *PARENTS - Abstract
Purpose: Lack of parental raising is an important reason for parental loss in China due to urbanization. We aimed to explore the association between parental loss (including parental death, divorce, alcoholism, crime, drug addiction, bedridden, and lack of parental raising) before 17 years old and mental health disorders in adulthood in Southwest China.Methods: Childhood parental loss, age, gender, socioeconomic status, smoking, drinking, and medical history were self-reported. Patient Health Questionnaire 9 (PHQ-9) and Generalized Anxiety Disorder 7 (GAD-7) were used for identifying depression and anxiety, respectively. We use logistic regression with inverse probability weighting according to the propensity score to assess the risk of childhood parental loss on mental health disorders in adulthood.Results: A total of 8014 adults were enrolled in this study. Childhood parental loss increased the risk of adulthood depression (OR, 1.60, 95%CI, 1.30-1.98) but not anxiety (p= 0.07) after adjustment of all covariates. Sensitivity analyses including logistic regression with original data, nearest neighbor matching, full matching, and propensity score as the only covariate all yielded similar results.Limitations: Recall bias could not be fully eliminated due to the retrospective nature of study design. Our study had been conducted in a less-prosperous area in Southwest China and the results may not be representative at nation level.Conclusions: Childhood parental loss was associated with depression in adulthood in Southwest China, highlighting the need for early intervention in children with parental loss, to prevent long-term negative effects on their mental health. [ABSTRACT FROM AUTHOR]- Published
- 2022
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8. Anxiety levels during a second local COVID-19 pandemic breakout among quarantined people: A cross sectional survey in China.
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Chen, Lili, Zhao, Hua, Razin, Delnur, Song, Tingting, Wu, Yan, Ma, Xiaopei, HuerxidaAji, Wang, Gang, Wang, Manli, and Yan, Lei
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COVID-19 pandemic , *QUARANTINE , *PSYCHOTHERAPY , *STATE-Trait Anxiety Inventory , *ANXIETY - Abstract
Only a few studies investigated the impact of quarantine on anxiety of general population during a second wave of COVID-19 breakout. We aimed to compare anxiety levels of quarantined and non-quarantined people and investigate factors affecting anxiety during the second COVID-19 pandemic. A total of 1837 participants were included in this cross-sectional study. Anxiety was measured by the State-Trait Anxiety Inventory (STAI). Participants were divided into the quarantined group (QG) and non-quarantined group (Non-QG). The mean STAI-S score in the QG was significantly higher than Non-QG (41.8 ± 11.2 vs 40.01 ± 9.9), so was the proportion of severe state anxiety (11.6% vs 5.5%). Males in the QG were significantly more anxious than females evaluated by both STAI-S and STAI-T. High income was independent protective factors while moderate or bad health status and high trait anxiety level were independent risk factors for severe state anxiety. In conclusion, the COVID-19 confinement could significantly increase anxiety of quarantined people. Males were more vulnerable to the quarantine of COVID-19 with significantly increased anxiety level than females. The results suggest that attention should be paid to anxiety during a second round of quarantine due to COVID-19 and are of help in planning psychological interventions. • The COVID-19 confinement could significantly increase anxiety of quarantined people. • Males were more vulnerable to the quarantine of COVID-19 with significantly increased anxiety level than females. • Attention should be paid to anxiety during a second round of quarantine due to COVID-19. [ABSTRACT FROM AUTHOR]
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- 2021
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9. Impact of diagenesis on reservoir quality and heterogeneity of the Upper Triassic Chang 8 tight oil sandstones in the Zhenjing area, Ordos Basin, China.
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Wang, Guangwei, Chang, Xiangchun, Yin, Wei, Li, Yang, and Song, Tingting
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PETROLEUM reservoirs , *DIAGENESIS , *SANDSTONE , *TRIASSIC Period , *GEOLOGICAL basins , *PETROLOGY , *PETROLEUM prospecting - Abstract
Reservoir quality and heterogeneity are critical risk factors in tight oil exploration. The integrated, analysis of the petrographic characteristics and the types and distribution of diagenetic alterations in the Chang 8 sandstones from the Zhenjing area using core, log, thin-section, SEM, petrophysical and stable isotopic data provides insight into the factors responsible for variations in porosity and permeability in tight sandstones. The results indicate that the Chang 8 sandstones mainly from subaqueous distributary channel facies are mostly moderately well to well sorted fine-grained feldspathic litharenites and lithic arkose. The sandstones have ultra-low permeabilities that are commonly less than 1 mD, a wide range of porosities from 0.3 to 18.1%, and two distinct porosity-permeability trends with a boundary of approximately 10% porosity. These petrophysical features are closely related to the types and distribution of the diagenetic alterations. Compaction is a regional porosity-reducing process that was responsible for a loss of more than half of the original porosity in nearly all of the samples. The wide range of porosity is attributed to variations in calcite cementation and chlorite coatings. The relatively high-porosity reservoirs formed due to preservation of the primary intergranular pores by chlorite coatings rather than burial dissolution; however, the chlorites also obstruct pore throats, which lead to the development of reservoirs with high porosity but low permeability. In contrast, calcite cementation is the dominant factor in the formation of low-porosity, ultra-low-permeability reservoirs by filling both the primary pores and the pore throats in the sandstones. The eogenetic calcites are commonly concentrated in tightly cemented concretions or layers adjacent to sandstone-mudstone contacts, while the mesogenetic calcites were deposited in all of the intervals and led to further heterogeneity. This study can be used as an analogue to understand the variations in the pathways of diagenetic evolution and their impacts on the reservoir quality and heterogeneity of sandstones and is useful for predicting the distribution of potential high-quality reservoirs in similar geological settings. [ABSTRACT FROM AUTHOR]
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- 2017
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10. Changes in the combination of the triglyceride-glucose index and obesity indicators estimate the risk of cardiovascular disease.
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Zhu X, Xu W, Song T, Wang X, Wang Q, Li J, Liu X, Hao B, Chen T, and Guo J
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- Humans, Female, Middle Aged, Male, Prospective Studies, Incidence, Risk Assessment, China epidemiology, Aged, Longitudinal Studies, Time Factors, Prognosis, Heart Disease Risk Factors, Predictive Value of Tests, Risk Factors, Cardiovascular Diseases epidemiology, Cardiovascular Diseases diagnosis, Cardiovascular Diseases blood, Triglycerides blood, Blood Glucose metabolism, Obesity epidemiology, Obesity diagnosis, Obesity blood, Biomarkers blood
- Abstract
Background: Cardiovascular disease (CVD) is closely associated with the triglyceride glucose (TyG) index and its related indicators, particularly its combination with obesity indices. However, there is limited research on the relationship between changes in TyG-related indices and CVD, as most studies have focused on baseline TyG-related indices., Methods: The data for this prospective cohort study were obtained from the China Health and Retirement Longitudinal Study. The exposures were changes in TyG-related indices and cumulative TyG-related indices from 2012 to 2015. The K-means algorithm was used to classify changes in each TyG-related index into four classes (Class 1 to Class 4). Multivariate logistic regressions were used to evaluate the associations between the changes in TyG-related indices and the incidence of CVD., Results: In total, 3243 participants were included in this study, of whom 1761 (54.4%) were female, with a mean age of 57.62 years at baseline. Over a 5-year follow-up, 637 (19.6%) participants developed CVD. Fully adjusted logistic regression analyses revealed significant positive associations between changes in TyG-related indices, cumulative TyG-related indices and the incidence of CVD. Among these changes in TyG-related indices, changes in TyG-waist circumference (WC) showed the strongest association with incident CVD. Compared to the participants in Class 1 of changes in TyG-WC, the odds ratio (OR) for participants in Class 2 was 1.41 (95% confidence interval (CI) 1.08-1.84), the OR for participants in Class 3 was 1.54 (95% CI 1.15-2.07), and the OR for participants in Class 4 was 1.94 (95% CI 1.34-2.80). Moreover, cumulative TyG-WC exhibited the strongest association with incident CVD among cumulative TyG-related indices. Compared to the participants in Quartile 1 of cumulative TyG-WC, the OR for participants in Quartile 2 was 1.33 (95% CI 1.00-1.76), the OR for participants in Quartile 3 was 1.46 (95% CI 1.09-1.96), and the OR for participants in Quartile 4 was 1.79 (95% CI 1.30-2.47)., Conclusions: Changes in TyG-related indices are independently associated with the risk of CVD. Changes in TyG-WC are expected to become more effective indicators for identifying individuals at a heightened risk of CVD., (© 2024. The Author(s).)
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- 2024
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11. Environmental disclosure practices in mixed ownership models: A study of Chinese private enterprises.
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Song T and Xiong A
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- Humans, Disclosure, East Asian People, Asian People, China, Ownership, Private Sector
- Abstract
Environmental information disclosure is critical avenue for stakeholders to gauge the fulfillment of corporate environmental responsibilities, as well as a key path for companies to gain social reputation and achieve sustainable development. To achieve both economic and social sustainability and improve the environmental information disclosure by private firms, this study delves into the impact mechanism and realization path of mixed ownership reform on environmental information disclosure among Chinese private enterprises listed between 2010 and 2020. Utilizing a panel fixed effect model, we scrutinize the interplay between state capital involvement and the disclosure of environmental information by private enterprises. Our findings reveal that state capital involvement may encourage private enterprises to disclose environmental information through resource allocation and governance improvements. The higher the shareholding ratio of state-owned participating shareholders, the more it helps private firms to disclose environmental information. State-owned shareholders play a pivotal role in the appointment of supervisors, directors, and executives, effectively improving corporate governance mechanisms and positively moderates how private companies with state-owned capital participate in disclosing environmental information. Moreover, the magnitude of media coverage and the public opinion pressure faced by private enterprises further amplify the influence of state-owned capital involvement on environmental information disclosure. Additionally, our research reveals that corporate profitability partially interplays with the effects of state-owned capital disclosure of environmental information by private companies. According to the research results, we recommend that the government proactively promote mixed ownership reform with private enterprises as the main participants, fully leveraging the resource advantages and influence of state-owned capital. At the same time, it is imperative to strengthen the governance effect of internal state-owned shareholders and external public opinion supervision in private enterprises. Enhancing profitability is also identified as a key driver for private enterprises to engage in more robust environmental information disclosure practices., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Song, Xiong. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
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- 2023
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12. Correlation analysis of epicardial adipose tissue and ventricular myocardial strain in Chinese amateur marathoners using cardiac magnetic resonance.
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Wang Z, Song T, Yu D, Chen X, Pu C, Ding J, and Ling X
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- Adipose Tissue diagnostic imaging, Adipose Tissue pathology, China, Humans, Magnetic Resonance Spectroscopy, Male, Myocardium, Heart Ventricles, Pericardium diagnostic imaging
- Abstract
Background: The volume of epicardial adipose tissue (EAT) is associated with an increased incidence of cardiovascular disease (CVD); however, only a few studies have examined its effect on the myocardial function of endurance in athletes. The association between the EAT and the variation of myocardial function is still unclear in amateur marathoners. Consequently, by using some sedentary individuals as the control, this study aims to evaluate the correlation between the EAT volume and the myocardial strain in the left and right ventricles of Chinese amateur marathoners by cardiac magnetic resonance (CMR)., Methods: A total of 30 amateur marathoners were included as the exercise group and 20 sedentary people as a control group. All participants received the cardiac magnetic resonance (CMR) to measure the left and right ventricular end-diastolic volume, end-systolic volume and volume index, stroke volume and index, cardiac output index, ejection fraction and myocardial mass, the EAT volume, global radial, circumferential, and longi-tudinal strains, and the strain rates of left and right ventricular myocardium., Results: There was a significant difference in the EAT volume (EATV) index between the exercise group and the control group (26.82±11.76ml/m2 vs 37.82±17.15ml/m2, P = 0.01). Results from the multivariate linear regression analysis showed that BMI (standardized β = 0.458; P < 0.001) had an independent positive correlation with the EATV index. The EATV index was negatively correlated with the left ventricular global radial strain (GRS) (r = -0.505; P = 0.004) in the exercise group, while it is negatively correlated with right ventricular GRS (r = -0.492; P = 0.027) and positively correlated with global longitudinal strain (GLS) (r = 0.601; P = 0.005) in the control group. In the exercise group, the multivariate linear regression analysis showed that the EATV index (standardized β = -0.429; P = 0.021) was an independent determinant of the left ventricular GRS, and being a male (standardized β = 0.396; P = 0.029) was an independent determinant of the right ventricular GLS., Conclusion: The EATV index is independently correlated with the left ventricular GRS in the amateur Chinese marathoners, also, the amateur marathon reduces the EATV index and increases the left ventricular myocardial mass, which consequently reduces the adverse effects on myocardial function., Competing Interests: The authors have declared that no competing interests exist.
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- 2022
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13. Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature review.
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Zhang X, Wu X, Liu H, Song T, Jiang Y, He H, Yang S, and Xie Y
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- Child, Preschool, China, Humans, Male, Protein Isoforms genetics, Exome Sequencing, Ataxia genetics, Epilepsy genetics, Genetic Diseases, X-Linked genetics, Intellectual Disability genetics, Microcephaly genetics, Ocular Motility Disorders genetics, Sodium-Hydrogen Exchangers genetics
- Abstract
Background: Variants in the endosomal solute carrier family 9 member A6 (SLC9A6)/(Na
+ ,K+ )/H+ exchanger 6 (NHE6) gene have been linked to epilepsy, speech loss, truncal ataxia, hyperkinesia, and postnatal microcephaly., Methods: In the present study, we evaluated genetic alterations in a 3-year-old Chinese boy displayed features of epilepsy, psychomotor retardation, microcephaly, low body weight, difficulty in feeding, excessive movement, attention loss, ataxia, and cerebellar atrophy and his healthy family using WES method. The identified variant was further confirmed by Sanger sequencing method. Finally, minigene assays were used to verify whether the novel SLC9A6 intronic variant influenced the normal splicing of mRNA., Results: We identified a novel hemizygous splicing variant [NM_001042537.1: c.1463-1G>A] in SLC9A6 by trio-based exome sequencing. The minigene expression in vitro confirmed the splicing variant altered a consensus splice acceptor site of SLC9A6 intron 11, resulting in skipping over exon 12., Conclusions: Our finding extends the catalog of pathogenic intronic variants affecting SLC9A6 pre-mRNA splicing and provides a basis for the genetic diagnosis of CS., (© 2021 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.)- Published
- 2022
- Full Text
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