Displaying publications 1 - 20 of 59 in total

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  1. Yang F, Sun Y, Zhang Y, Wang T
    PMID: 34281094 DOI: 10.3390/ijerph18137157
    This study aims to analyze the development trend of the manufacturing industry transformation and upgrading in the Guangdong-Hong Kong-Macao Greater Bay Area (2008-2018). On the basis of synergetics, the order parameter method of factor analysis is used to study these factors. The results show that: (1) There are five slow variable factors, such as intelligent manufacturing industry, technological innovation, scale agglomeration, market demand, and fixed asset investment, which are important power sources of the transformation and upgrading of the manufacturing industry in Greater Bay Area. The development of these factors is relatively mature, and they cooperate with each other. (2) Similar to a fast variable of manufacturing development ecology, green development is an important coordinating factor in removing bottlenecks. Finally, suggestions for the development of the transformation and upgrading of the manufacturing industry are put forward.
  2. Wei J, Yang F, Gong C, Shi X, Wang G
    J Biochem Mol Toxicol, 2019 Jun;33(6):e22319.
    PMID: 30897277 DOI: 10.1002/jbt.22319
    Oxidative stress is performing an essential role in developing Alzheimer's disease (AD), and age-related disorder and other neurodegenerative diseases. In existing research, we have aimed at investigating the daidzein (4',7-dihydroxyisoflavone) effect (10 and 20 mg/kg of body weight), as a free radical scavenger and antioxidant in streptozotocin (STZ) infused AD in rat model. Daidzein treatment led to significant improvement in intracerebroventricular-streptozotocin (ICV-STZ)-induced memory and learning impairments that was evaluated by Morris water maze test and spontaneous locomotor activity. It significantly restored the alterations in malondialdehyde, catalase, superoxide dismutase, and reduced glutathione levels. In addition, histopathological observations in cerebral cortex and hippocampal areas confirmed the neuroprotective effect of daidzein. These outcomes provide experimental proof showing preventive effect of daidzein on memory, learning dysfunction and oxidative stress in case of ICV-STZ rats. In conclusion, daidzein offers a potential treatment module for various neurodegenerative disorders with regard to mental deficits like AD.
  3. Chan BT, Yeoh HK, Liew YM, Dokos S, Al Abed A, Chee KH, et al.
    Coron Artery Dis, 2018 06;29(4):316-324.
    PMID: 29261521 DOI: 10.1097/MCA.0000000000000596
    OBJECTIVE: This study investigated the intraventricular flow dynamics in ischaemic heart disease patients.

    PATIENTS AND METHODS: Fourteen patients with normal ejection fraction and 16 patients with reduced ejection fraction were compared with 20 healthy individuals. Phase-contrast MRI was used to assess intraventricular flow variables and speckle-tracking echocardiography to assess myocardial strain and left ventricular (LV) dyssynchrony. Infarct size was acquired using delayed-enhancement MRI.

    RESULTS: The results obtained showed no significant differences in intraventricular flow variables between the healthy group and the patients with normal ejection fraction group, whereas considerable reductions in kinetic energy (KE) fluctuation index, E' (P<0.001) and vortex KE (P=0.003) were found in the patients with reduced ejection fraction group. In multivariate analysis, only vortex KE and infarct size were significantly related to LV ejection fraction (P<0.001); furthermore, vortex KE was correlated negatively with energy dissipation, energy dissipation index (r=-0.44, P=0.021).

    CONCLUSION: This study highlights that flow energetic indices have limited applicability as early predictors of LV progressive dysfunction, whereas vortex KE could be an alternative to LV performance.

  4. Zakaria SM, Sharif Zein SH, Othman MR, Yang F, Jansen JA
    Tissue Eng Part B Rev, 2013 Oct;19(5):431-41.
    PMID: 23557483 DOI: 10.1089/ten.TEB.2012.0624
    Hydroxyapatite is a biocompatible material that is extensively used in the replacement and regeneration of bone material. In nature, nanostructured hydroxyapatite is the main component present in hard body tissues. Hence, the state of the art in nanotechnology can be exploited to synthesize nanophase hydroxyapatite that has similar properties with natural hydroxyapatite. Sustainable methods to mass-produce synthetic hydroxyapatite nanoparticles are being developed to meet the increasing demand for these materials and to further develop the progress made in hard tissue regeneration, especially for orthopedic and dental applications. This article reviews the current developments in nanophase hydroxyapatite through various manufacturing techniques and modifications.
  5. Yang F, He JF, Xian HX, Zhang HL, He YQ, Yang H, et al.
    Zhonghua Yu Fang Yi Xue Za Zhi, 2009 Sep;43(9):798-802.
    PMID: 20137564
    To isolate and identify the pathogen of Dengue fever from Shenzhen city in 2005 - 2006, and to analyze the molecular characteristics of the isolated Dengue virus strain as well as to explore its possible origin.
  6. Hu LF, Li SP, Cao H, Liu JJ, Gao JL, Yang FQ, et al.
    J Pharm Biomed Anal, 2006 Sep 18;42(2):200-6.
    PMID: 16242880
    Pogostemon cablin, originating in Malaysia and India, is cultivated in southern China including Guangdong and Hainan Province, which was called GuangHuoXiang to differentiate it from the HuoXiang of the north, the species Agastache rugosa, that it resembles. Essential oil of P. cablin mainly contributes to the pharmacological activities and the therapeutic properties of the essential oils are directly correlated with their qualitative and quantitative composition. For controlling the quality, standard fingerprint of P. cablin collected from different regions was developed by using GC-MS. Nine compounds including beta-patchoulene, caryophyllene, alpha-guaiene, seychellene, beta-guaiene, delta-guaiene, spathulenol, patchouli alcohol and pogostone were identified among 10 main peaks in P. cablin. Hierarchical clustering analysis based on characteristics of 10 investigated peaks in GC profiles showed that 18 samples were divided into three main clusters, patchouliol-type, pogostone-type and an interim-type, which was the one between the two chemotypes. The simulative mean chromatogram for the three types P. cablin was generated using the Computer Aided Similarity Evaluation System. The fingerprint can help to distinguish the substitute or adulterant, and further assess the differences of P. cablin grown in various areas of China.
  7. Cui J, Zhang Y, Yang F, Chang Y, Du K, Chan A, et al.
    Ecotoxicol Environ Saf, 2020 Apr 15;193:110344.
    PMID: 32092583 DOI: 10.1016/j.ecoenv.2020.110344
    To identify seasonal fluxes and sources of dissolved inorganic nitrogen (DIN) wet deposition, concentrations and δ15N signatures of nitrate (NO3-) and ammonium (NH4+) in wet precipitation were measured at four typical land-use types in the Three Gorges reservoir (TGR) area of southwest China for a one-year period. Higher DIN fluxes were recorded in spring and summer and their total fluxes (averaged 7.58 kg N ha-1) were similar to the critical loads in aquatic ecosystems. Significant differences of precipitation δ15N were observed for NH4+-N between town and wetland sites in spring and between urban and rural sites in summer. For NO3--N, significant differences of precipitation δ15N were observed between town and rural sites in spring and between urban and town sites in autumn, respectively. Quantitative results of NO3--N sources showed that both biomass burning and coal combustion had higher fluxes at the urban site especially in winter (0.18 ± 0.09 and 0.19 ± 0.08 kg N ha-1), which were about three times higher than those at the town site. A similar finding was observed for soil emission and vehicle exhausts in winter. On the whole, DIN wet deposition averaged at 12.13 kg N ha-1 yr-1 with the urban site as the hotspot (17.50 kg N ha-1 yr-1) and regional NO3--N fluxes had a seasonal pattern with minimum values in winter. The contribution to NO3--N wet deposition from biomass burning was 26.1 ± 14.1%, which is the second dominant factor lower than coal combustion (26.5 ± 12.6%) in the TGR area during spring and summer. Hence N emission reduction from biomass burning, coal combustion and vehicle exhausts should be strengthened especially in spring and summer to effectively manage DIN pollution for the sustainable development in TGR area.
  8. Yang F, Guo KX, Yang DQ, Liu RD, Long SR, Zhang X, et al.
    Trop Biomed, 2020 Jun 01;37(2):458-470.
    PMID: 33612815
    A T. spiralis serine protease 1.2 (TsSP1.2) was identified in the muscle larvae (ML) and intestinal larvae surface/excretory-secretory (ES) proteins by immunoproteomics. The aim of this study was to determine the TsSP1.2 function in the process of T. spiralis intrusion, growth and reproduction by using RNA interference (RNAi). RNAi was used to silence the expression of TsSP1.2 mRNA and protein in the nematode. On 2 days after the ML were electroporated with 2 µM of TsSP1.2-specific siRNA 534, TsSP1.2 mRNA and protein expression declined in 56.44 and 84.48%, respectively, compared with untreated ML. Although TsSP1.2 silencing did not impair worm viability, larval intrusion of intestinal epithelium cells (IEC) was suppressed by 57.18% (P < 0.01) and the suppression was siRNA-dose dependent (r = 0.976). Infection of mice with siRNA 534 transfected ML produced a 57.16% reduction of enteral adult burden and 71.46% reduction of muscle larva burden (P < 0.05). Moreover, silencing of TsSP1.2 gene in ML resulted in worm development impediment and reduction of female fertility. The results showed that silencing of TsSP1.2 by RNAi inhibited larval intrusion and development, and reduced female fecundity. TsSP1.2 plays a crucial role for worm invasion and development in T. spiralis life cycle, and is a potential vaccine/drug target against Trichinella infection.
  9. Yang F, Xu X, Wang W, Ma J, Wei D, He P, et al.
    PLoS One, 2017;12(5):e0177509.
    PMID: 28498839 DOI: 10.1371/journal.pone.0177509
    Estimating balanced nutrient requirements for soybean (Glycine max [L.] Merr) in China is essential for identifying optimal fertilizer application regimes to increase soybean yield and nutrient use efficiency. We collected datasets from field experiments in major soybean planting regions of China between 2001 and 2015 to assess the relationship between soybean seed yield and nutrient uptake, and to estimate nitrogen (N), phosphorus (P), and potassium (K) requirements for a target yield of soybean using the quantitative evaluation of the fertility of tropical soils (QUEFTS) model. The QUEFTS model predicted a linear-parabolic-plateau curve for the balanced nutrient uptake with a target yield increased from 3.0 to 6.0 t ha-1 and the linear part was continuing until the yield reached about 60-70% of the potential yield. To produce 1000 kg seed of soybean in China, 55.4 kg N, 7.9 kg P, and 20.1 kg K (N:P:K = 7:1:2.5) were required in the above-ground parts, and the corresponding internal efficiencies (IE, kg seed yield per kg nutrient uptake) were 18.1, 126.6, and 49.8 kg seed per kg N, P, and K, respectively. The QUEFTS model also simulated that a balanced N, P, and K removal by seed which were 48.3, 5.9, and 12.2 kg per 1000 kg seed, respectively, accounting for 87.1%, 74.1%, and 60.8% of the total above-ground parts, respectively. These results were conducive to make fertilizer recommendations that improve the seed yield of soybean and avoid excessive or deficient nutrient supplies. Field validation indicated that the QUEFTS model could be used to estimate nutrient requirements which help develop fertilizer recommendations for soybean.
  10. Peng Y, Zhou F, Cui J, Du K, Leng Q, Yang F, et al.
    Environ Sci Pollut Res Int, 2017 Jul;24(19):16206-16219.
    PMID: 28540543 DOI: 10.1007/s11356-017-9221-0
    The Three Gorges Dam's construction and industrial transfer have resulted in a new air pollution pattern with the potential to threaten the reservoir eco-environment. To assess the impact of socioeconomic factors on the pattern of air quality vairation and economical risks, concentrations of SO2, NO2, and PM10, industry genres, and meteorological conditions were selected in the Three Gorges Reservoir of Chongqing (TGRC) during 2006-2015. Results showed that air quality had improved to some extent, but atmospheric NO2 showed an increased trend during 2011-2015. Spatially, higher atmospheric NO2 extended to the surrounding area. The primary industry, especially for agriculture, had shown to be responsible for the remarkable increase of atmospheric NO2 (p 
  11. Yang F, Lodder P, Huang N, Liu X, Fu M, Guo J
    Psychiatry Res, 2023 Oct;328:115433.
    PMID: 37651839 DOI: 10.1016/j.psychres.2023.115433
    This study aims to estimate the global, regional, and national burden of depressive disorders in 204 countries and territories from 1990 to 2019. All data were obtained from the 2019 Global Burden of Disease (GBD) study. Age-period-cohort (APC) modeling was conducted to disentangle age, period, and birth cohort effects on depression incidence. We compared these estimates across regions classified based on their socio-demographic index (SDI). The Estimated Annual Percentage Change (EAPC) was calculated for each of the 204 countries and territories to identify the top five countries with increased depression incidence (Spain, Mexico, Malaysia, the United States of America, and Uruguay) and the top five countries with decreased depression incidence (Singapore, Estonia, Cuba, Maldives, and Sri Lanka). The results from APC analysis indicate that although depression incidence has decreased globally, the incidence rate in high SDI regions is still increasing, especially in the younger generations. Findings suggest that currently some populations are in need of receiving more psychological support (i.e., individuals born after 1950s in high SDI regions; males in middle SDI regions). Forthcoming studies could corroborate our findings using individual-level data which may guide future prevention and intervention of depression in high-risk populations or regions.
  12. Dama G, Hu X, Yan Y, Li Y, Li H, Yang F, et al.
    Histochem Cell Biol, 2023 Jul;160(1):11-25.
    PMID: 37014442 DOI: 10.1007/s00418-023-02186-5
    Experimental autoimmune encephalomyelitis (EAE) is a classical animal model of human multiple sclerosis (MS) that is most commonly used to study the neuropathology and therapeutic effects of the disease. Telocytes (TCs) are a specialized type of interstitial or mesenchymal cell first identified by Popescu in various tissues and organs. However, the existence, distribution and role of CD34+ stromal cells (SCs)/TCs in the EAE-induced mouse spleen remain to be elucidated. We conducted immunohistochemistry, immunofluorescence (double staining for CD34 and c-kit, vimentin, F4/80, CD163, Nanog, Sca-1, CD31 or tryptase) and transmission electron microscopy experiments to investigate the existence, distribution and role of CD34+ SCs/TCs in the EAE-induced mouse spleen. Interestingly, immunohistochemistry, double-immunofluorescence, and transmission electron microscopy results revealed that CD34+ SCs/TCs were significantly upregulated in the EAE mouse spleen. Immunohistochemical or double-immunofluorescence staining of CD34+ SCs/TCs showed positive expression for CD34, c-kit, vimentin, CD34/vimentin, c-kit/vimentin and CD34/c-kit, and negative expression for CD31 and tryptase. Transmission electron microscopy (TEM) results demonstrated that CD34+ SCs/TCs established close connections with lymphocytes, reticular cells, macrophages, endothelial cells and erythrocytes. Furthermore, we also found that M1 (F4/80) or M2 (CD163) macrophages, and haematopoietic, pluripotent stem cells were markedly increased in EAE mice. Our results suggest that CD34+ SCs/TCs are abundant and may play a contributing role in modulating the immune response, recruiting macrophages and proliferation of haematopoietic and pluripotent stem cells following injury to promote tissue repair and regeneration in EAE mouse spleens. This suggests that their transplantation combined with stem cells might represent a promising therapeutic target for the treatment and prevention of multiple autoimmune and chronic inflammatory disorders.
  13. Jiang L, Al-Shaibani GKS, Yang F, Cheng M, Huang M
    Front Psychol, 2022;13:957485.
    PMID: 35936335 DOI: 10.3389/fpsyg.2022.957485
    The translation of Intangible Cultural Heritage (ICH) terms is an important practical aspect of cross-lingual expressions related to ICH knowledge. Chinese ICH terms are heavily loaded with specific historical and cultural knowledge and regional characteristics. Based on cognitive psychology, this paper analyzes the metonymic mechanism of traditional translation techniques such as substitution in the English translation of Chinese ICH terms. The English translation of Chinese ICH nominal terms can be realized based on the metonymic mechanism of replacing either a superordinate with a subordinate of the linguistic structure or a subordinate of the linguistic structure with a subordinate of the linguistic structure in the pair language, English-Chinese. The English translation of Chinese ICH verbal terms can regard the whole verbal action as an event process and can highlight one aspect of the process through a metonymic mechanism as well. This paper holds that metonymy is an important psychological motivation and cognitive mechanism for translation skills such as substitution as it brings the relationship between the corresponding items of the target language and the source language into a unified interpretation framework. Hence, this may add some significance to the research of translation theory and translation practice. This also contributes to the UN Sustainable Development Goal number 17 which seeks global parternship for sustainable development.
  14. Zhao L, Wu HY, Xie D, Mo LM, Yang FF, Gao Y, et al.
    Trop Biomed, 2023 Dec 01;40(4):439-443.
    PMID: 38308831 DOI: 10.47665/tb.40.4.009
    The study of children who experienced with febrile seizures(FS) as a result of COVID-19 infection to gain insight into the clinical characteristics and prognosis of neurological damage, with the aim of improving prevention, diagnosis, and the treatment of neurological complications. This study investigated the clinical features of 53 children with FS who were admitted to Sanya Women and Children's Hospital from December 1, 2022, to January 31, 2023. The results indicated that the duration of convulsion in the case and control group was 7.90±8.91 and 2.67±1.23 (minutes) respectively. The analysis reveals that convulsions occurred within 24 hours in 39 cases (95.12%) of the case group, and in 8 cases (66.7%) of the control group. The difference was statistically significant (P<0.05). Additionally, the case group presented lower counts of WBC and NEU compared to the control group (p<0.05). The findings indicate that convulsions manifest at earlier stages of COVID-19 in children and the last longer than in the control group. It is therefore crucial for healthcare workers to remain attentive to patients with COVID-19 who report fever within 24 hours, and act promptly to implement preventive measures, particularly in cases of prolonged fever. It is essential to integrate the clinical manifestation, particularly convulsions, and the continuous numerical changes of inflammatory factors to assess COVID-19 linked with febrile seizures. In addition, larger-scale multi-center and systematic research are necessary to aid clinicians in monitoring neuropathological signals and biological targets, enabling more equitable diagnosis and treatment plans.
  15. Zhang B, Zhang R, Deng H, Cui P, Li C, Yang F, et al.
    PLoS One, 2023;18(12):e0294768.
    PMID: 38051740 DOI: 10.1371/journal.pone.0294768
    BACKGROUND AND AIM: Primarily, this study compares the efficacy of probiotic and acceptance and commitment therapy (ACT) in alleviating the severity of alcohol craving and alcohol use disorder (AUD) among patients who had undergo two weeks of in-patient detoxification. Secondarily, this study compares the efficacy of probiotic and ACT in mitigating the severity of comorbid depression and anxiety symptoms; decreasing serum level of pro-inflammatory cytokines, such as interleukin 1β (IL-1β), interleukin 6 (IL-6), and tumor necrosis factor α (TNF-α); changing the event-related potential in electroencephalogram (EEG) and restoring microbiota flora in the gut of AUD patients.

    METHODS AND ANALYSIS: Initially, during Phase I of the study, the serum level of IL-1β, IL-6 and TNF-α; ERP changes in the EEG and fecal microbiota content will be compared between 120 AUD patients and 120 healthy controls. Subsequently in Phase II of the study, 120 AUD patients will be randomized by stratified permuted block randomization into the probiotic, ACT and placebo groups in a 1:1:1 ratio. Participants in the probiotic and placebo groups will be administered one sachet per day of Lactobacillus spp. probiotic and placebo, respectively for 12 weeks. While those in the ACT group will receive one session per week of ACT for 8 weeks. Outcome measures will be administered at four timepoints, such as t0 = baseline assessment prior to intervention, t1 = 8 weeks after intervention began, t2 = 12 weeks after intervention and t3 = 24 weeks after intervention. Primary outcomes are the degrees of alcohol craving, alcohol withdrawal during abstinence and AUD. Secondary outcomes to be assessed are the severity of co-morbid depression and anxiety symptoms; the serum levels of IL-1β, IL-6 and TNF-α; changes in ERP and fecal microbiota content.

    TRIAL REGISTRATION NUMBER: NCT05830708 (ClinicalTrials.gov). Registered on April 25, 2023.

  16. Yang F, Guo GZ, Chen JQ, Ma HW, Liu T, Huang DN, et al.
    Epidemiol Infect, 2014 Feb;142(2):225-33.
    PMID: 23587429 DOI: 10.1017/S0950268813000897
    A suspected dengue fever outbreak occurred in 2010 at a solitary construction site in Shenzhen city, China. To investigate this epidemic, we used serological, molecular biological, and bioinformatics techniques. Of nine serum samples from suspected patients, we detected seven positive for dengue virus (DENV) antibodies, eight for DENV-1 RNA, and three containing live viruses. The isolated virus, SZ1029 strain, was sequenced and confirmed as DENV-1, showing the highest E-gene homology to D1/Malaysia/36000/05 and SG(EHI)DED142808 strains recently reported in Southeast Asia. Further phylogenetic tree analysis confirmed their close relationship. At the epidemic site, we also detected 14 asymptomatic co-workers (out of 291) positive for DENV antibody, and DENV-1-positive mosquitoes. Thus, we concluded that DENV-1 caused the first local dengue fever outbreak in Shenzhen. Because no imported case was identified, the molecular fingerprints of the SZ1029 strain suggest this outbreak may be due to vertical transmission imported from Southeast Asia.
  17. Cui J, Zhou F, Gao M, Zhang L, Zhang L, Du K, et al.
    Environ Pollut, 2018 Oct;241:810-820.
    PMID: 29909307 DOI: 10.1016/j.envpol.2018.06.028
    Six different approaches are applied in the present study to apportion the sources of precipitation nitrogen making use of precipitation data of dissolved inorganic nitrogen (DIN, including NO3- and NH4+), dissolved organic nitrogen (DON) and δ15N signatures of DIN collected at six sampling sites in the mountain region of Southwest China. These approaches include one quantitative approach running a Bayesian isotope mixing model (SIAR model) and five qualitative approaches based on in-situ survey (ISS), ratio of NH4+/NO3- (RN), principal component analysis (PCA), canonical-correlation analysis (CCA) and stable isotope approach (SIA). Biomass burning, coal combustion and mobile exhausts in the mountain region are identified as major sources for precipitation DIN while biomass burning and volatilization sources such as animal husbandries are major ones for DON. SIAR model results suggest that mobile exhausts, biomass burning and coal combustion contributed 25.1 ± 14.0%, 26.0 ± 14.1% and 27.0 ± 12.6%, respectively, to NO3- on the regional scale. Higher contributions of both biomass burning and coal combustion appeared at rural and urban sites with a significant difference between Houba (rural) and the wetland site (p 
  18. Yang F, Jin C, Wang S, Wang Y, Wei L, Zheng L, et al.
    Chemosphere, 2023 May;323:138245.
    PMID: 36841450 DOI: 10.1016/j.chemosphere.2023.138245
    Due to increasing antibiotic pollution in the water environment, green and efficient adsorbents are urgently needed to solve this problem. Here we prepare magnetic bamboo-based activated carbon (MDBAC) through delignification and carbonization using ZnCl2 as activator, resulting in production of an activated carbon with large specific surface area (1388.83 m2 g-1). The influencing factors, such as solution pH, initial sulfadiazine (SD) concentration, temperature, and contact time, were assessed in batch adsorption experiments. The Langmuir isotherm model demonstrated that MDBAC adsorption capacity on SD was 645.08 mg g-1 at its maximum, being higher than majority of previously reported adsorbents. In SD adsorption, the kinetic adsorption process closely followed the pseudo-second kinetic model, and the thermodynamic adsorption process was discovered to be exothermic and spontaneous in nature. The MDBAC exhibited excellent physicochemical stability, facile magnetic recovery and acceptable recyclability properties. Moreover, the synergistic interactions between MDBAC and SD mainly involved electrostatic forces, hydrogen bonding, π-π stacking, and chelation. Within the benefits of low cost, ease of production and excellent adsorption performance, the MDBAC biosorbent shows promising utilization in removing antibiotic contaminants from wastewater.
  19. Lian X, Hong WCH, Gao F, Kolletar-Zhu K, Wang J, Cai C, et al.
    Res Dev Disabil, 2023 Oct;141:104602.
    PMID: 37757565 DOI: 10.1016/j.ridd.2023.104602
    Traditional picture books for children come with colourful images and a multitude of elements to attract attention and increase the reading interest of typical-developing (TD) children. However, children with Autism Spectrum Disorder (ASD) are less capable of filtering out unimportant elements in pictures and focusing on social items (e.g., human faces). This study proposed that the removal of background and less important elements in the pictures of children's storybooks could facilitate better attention and enhance children with ASD's focus on the main object and thus the intended meaning of the storybook. We adopted pictures from a well-known children's book and modified them by removing the inessential background elements. Then, ASD children with intellectual disabilities (ASD+ID) (n = 40), children with ID (n = 38) and TD (n = 40) were asked to view the original and modified pictures in an eye-tracking experiment, respectively. Additionally, brain activation of ASD+ID participants (n = 10) was recorded as they were viewing those pictures in an fMRI scan. Eye-tracking found that ASD+ID children viewed the modified pictures with significantly longer average fixations, fewer fixations, fewer saccades, and higher fixation/saccade duration ratio. Contrary to the original pictures, no significant differences were found among ASD+ID, ID only and TD. Especially, ASD+ID group showed highly similar visual patterns to the TD participants when viewing the modified pictures and particularly focusing on the main character in the pictures. Additional fMRI evidence on ASD+ID group also revealed that modified pictures were associated with enhanced activation in bilateral fusiform gyri as compared to those from original pictures, which might suggest increased visual attention. Theoretical and practical implications were discussed in light of our findings.
  20. Shi W, Massaia A, Louzada S, Banerjee R, Hallast P, Chen Y, et al.
    Hum Genet, 2018 Jan;137(1):73-83.
    PMID: 29209947 DOI: 10.1007/s00439-017-1857-9
    We describe the variation in copy number of a ~ 10 kb region overlapping the long intergenic noncoding RNA (lincRNA) gene, TTTY22, within the IR3 inverted repeat on the short arm of the human Y chromosome, leading to individuals with 0-3 copies of this region in the general population. Variation of this CNV is common, with 266 individuals having 0 copies, 943 (including the reference sequence) having 1, 23 having 2 copies, and two having 3 copies, and was validated by breakpoint PCR, fibre-FISH, and 10× Genomics Chromium linked-read sequencing in subsets of 1234 individuals from the 1000 Genomes Project. Mapping the changes in copy number to the phylogeny of these Y chromosomes previously established by the Project identified at least 20 mutational events, and investigation of flanking paralogous sequence variants showed that the mutations involved flanking sequences in 18 of these, and could extend over > 30 kb of DNA. While either gene conversion or double crossover between misaligned sister chromatids could formally explain the 0-2 copy events, gene conversion is the more likely mechanism, and these events include the longest non-allelic gene conversion reported thus far. Chromosomes with three copies of this CNV have arisen just once in our data set via another mechanism: duplication of 420 kb that places the third copy 230 kb proximal to the existing proximal copy. Our results establish gene conversion as a previously under-appreciated mechanism of generating copy number changes in humans and reveal the exceptionally large size of the conversion events that can occur.
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