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1.
Int J Biol Macromol ; 263(Pt 1): 130220, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38368983

ABSTRACT

Human trophoblastic lineage development is intertwined with placental development and pregnancy outcomes, but the regulatory mechanisms underpinning this process remain inadequately understood. In this study, based on single-nuclei RNA sequencing (snRNA-seq) analysis of the human early maternal-fetal interface, we compared the gene expression pattern of trophoblast at different developmental stages. Our findings reveal a predominant upregulation of TBX3 during the transition from villous cytotrophoblast (VCT) to syncytiotrophoblast (SCT), but downregulation of TBX3 as VCT progresses into extravillous trophoblast cells (EVT). Immunofluorescence analysis verified the primary expression of TBX3 in SCT, partial expression in MKi67-positive VCT, and absence in HLA-G-positive EVT, consistent with our snRNA-seq results. Using immortalized trophoblastic cell lines (BeWo and HTR8/SVneo) and human primary trophoblast stem cells (hTSCs), we observed that TBX3 knockdown impedes SCT formation through RAS-MAPK signaling, while TBX3 overexpression disrupts the cytoskeleton structure of EVT and hinders EVT differentiation by suppressing FAK signaling. In conclusion, our study suggests that the spatiotemporal expression of TBX3 plays a critical role in regulating trophoblastic lineage development via distinct signaling pathways. This underscores TBX3 as a key determinant during hemochorial placental development.


Subject(s)
Placenta , Placentation , Humans , Pregnancy , Female , Placenta/metabolism , Placentation/genetics , Pregnancy Trimester, First , Trophoblasts/metabolism , RNA, Small Nuclear/metabolism , Cell Movement , T-Box Domain Proteins/genetics , T-Box Domain Proteins/metabolism
2.
Vet Microbiol ; 290: 109969, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38211362

ABSTRACT

Emerging evidence confirms beneficial properties of probiotics in promoting growth and immunity of farmed chicken. However, the molecular mechanisms underlying the host-microbiome interactions mediated by probiotics are not fully understood. In this study, the internal mechanisms of Lacticaseibacillus chiayiensis-mediated host-microbiome interactions and to elucidate how it promotes host growth were investigated by additional supplementation with L. chiayiensis. We conducted experiments, including intestinal cytokines, digestive enzymes test, intestinal microbiome, metabolome and transcriptome analysis. The results showed that chickens fed L. chiayiensis exhibited higher body weight gain and digestive enzyme activity, and lower pro-inflammatory cytokines, compared to controls. Microbiota sequencing analysis showed that the gut microbiota structure was reshaped with L. chiayiensis supplementation. Specifically, Lactobacillus and Escherichia increased in abundance and Enterococcus, Lactococcus, Corynebacterium, Weissella and Gallicola decreased. In addition, the bacterial community diversity was significantly increased compared to controls. Metabolomic and transcriptomic analyses revealed that higher bile acids and N-acyl amides concentrations and lower carbohydrates concentrations in L. chiayiensis-fed chickens. Meanwhile, the expression of genes related to nutrient transport and absorption in the intestine was upregulated, which reflected the enhanced digestion and absorption of nutrients in chickens supplemented with L. chiayiensis. Moreover, supplementation of L. chiayiensis down-regulated genes involved in inflammation-related, mainly involved in NF-κB signaling pathway and MHC-II mediated antigen presentation process. Cumulatively, these findings highlight that host-microbiota crosstalk enhances the host growth phenotype in two ways: by enhancing bile acid metabolism and digestive enzyme activity, and reducing the occurrence of intestinal inflammation to promote nutrient absorption and maintain intestinal health. This provides a basis for the application of LAB as an alternative to antibiotics in animal husbandry.


Subject(s)
Gastrointestinal Microbiome , Microbiota , Animals , Gastrointestinal Microbiome/genetics , Chickens , Lactobacillus , Inflammation/veterinary , Cytokines , Lacticaseibacillus
3.
Cancer Biomark ; 39(1): 1-13, 2024.
Article in English | MEDLINE | ID: mdl-37334578

ABSTRACT

OBJECTIVE: Accumulating evidence indicates that circular RNAs (circRNAs) contribute to breast cancer (BC) development and progression. However, the role of circ_0058063 in BC and its underlying molecular processes remain unclear. METHODS: The expression of circ_0058063, miR-557, and DLGAP5 in BC tissues and cells was determined using real time quantitative PCR or western blotting. The functions of circ_0058063 in BC cells were detected using CCK-8, Transwell, caspase-3 activity, and xenograft tumor assays. The specific binding of circ_0058063/miR-557 and DLGAP5/miR-557 was verified using RNA immunoprecipitation (RIP) and dual-luciferase reporter assays. RESULTS: circ_0058063 expression was upregulated in BC tissues and cells. circ_0058063 knockdown inhibited proliferation and migration but promoted apoptosis in MCF-7 and MDA-MB-231 cells in vitro. In vivo studies further validated that the knockdown of circ_0058063 repressed tumor growth. Mechanistically, circ_0058063 directly sponged miR-557 and negatively regulated its expression. Additionally, miR-557 inhibition reversed the tumor-suppressive effects of the circ_0058063 knockdown on the survival of MDA-MB-231 and MCF-7 cells. Moreover, miR-557 directly targeted DLGAP5. DLGAP5 knockdown suppressed MCF-7 and MDA-MB-231 cell growth, and these effects were reversed by miR-557 downregulation. CONCLUSION: Our findings verify that circ_0058063 acts as a sponge for miR-557 to upregulate DLGAP5 expression. These findings suggest that the circ_0058063/miR-557/DLGAP5 axis is an important regulator of oncogenic function and may be a promising therapeutic target for BC.


Subject(s)
Breast Neoplasms , MicroRNAs , Female , Humans , Apoptosis/genetics , Blotting, Western , Breast , Breast Neoplasms/genetics , Cell Proliferation/genetics , MicroRNAs/genetics , Neoplasm Proteins , RNA, Circular/genetics
4.
Front Microbiol ; 14: 1168378, 2023.
Article in English | MEDLINE | ID: mdl-37275148

ABSTRACT

Numerous different species of LAB are used in different fields due to their unique characteristics. However, Lacticaseibacillus chiayiensis, a newly established species in 2018, has limited microorganism resources, and lacks comprehensive evaluations of its properties. In this study, L. chiayiensis AACE3, isolated from fermented blueberry, was evaluated by genomic analysis and in vitro assays of the properties. The genome identified genes associated with biofilm formation (luxS, ccpA, brpA), resistance to oxidative stress (tpx, trxA, trxB, hslO), tolerance to acidic conditions (dltA, dltC), resistance to unfavorable osmotic pressure (opuBB, gbuA, gbuB, gbuC), and adhesion (luxS, dltA, dltC). The AACE3 showed 112 unique genes, relative to the other three L. chiayiensis strains. Among them, the presence of genes such as clpP, pepO, and feoA suggests a possible advantage of AACE3 over other L. chiayiensis in terms of environmental adaptation. In vitro evaluation of the properties revealed that AACE3 had robust antibacterial activity against eight common pathogens: Streptococcus agalactiae, Staphylococcus aureus, Escherichia coli, Salmonella enteritidis, Salmonella choleraesuis, Shigella flexneri, Pseudomonas aeruginosa, and Klebsiella pneumoniae. In addition, AACE3 showed more than 80% survival rate in all tests simulating gastrointestinal fluid, and it exhibited high antioxidant capacity. Interestingly, the cell culture supernatant was superior to intact organisms and ultrasonically crushed bacterial extracts in all tests of antioxidant capacity. These results suggested that the antioxidant capacity may originate from certain metabolites and extracellular enzymes produced by AACE3. Moreover, AACE3 was a moderate biofilm producer due to the self-agglomeration effect. Taken together, L. chiayiensis AACE3 appears to be a candidate strain for combating the growing incidence of pathogen infections and antioxidant production.

5.
Front Microbiol ; 14: 1120263, 2023.
Article in English | MEDLINE | ID: mdl-37007532

ABSTRACT

Lactic acid bacteria are generally regarded as alternatives to antibiotics in livestock and poultry farming, especially Lactobacillus strains, which are safe and have probiotic potential. Although Lactobacillus salivarius has long been proposed to be a probiotic, the understanding of the roles of this species is still in its infancy. Here, a strain of L. salivarius CGMCC20700 isolated from the intestinal mucosa of Yunnan black-bone chicken broilers was investigated in the context of its safety and probiotic characteristics by whole-genome sequencing in parallel with phenotypic analysis. Whole-genome sequencing results showed that L. salivarius CGMCC20700 has a single scaffold of 1,737,577 bp with an average guanine-to-cytosine (GC) ratio of 33.51% and 1,757 protein-coding genes. The annotation of Clusters of Orthologous Groups (COG) classified the predicted proteins from the assembled genome as possessing cellular, metabolic, and information-related functions. Sequences related to risk assessment, such as antibiotic resistance and virulence genes, were identified, and the strain was further confirmed as safe according to the results of antibiotic resistance, hemolytic, and acute oral toxicology tests. Two gene clusters of antibacterial compounds and broad-spectrum antimicrobial activity were identified using genome mining tools and antibacterial spectrum tests. Stress resistance genes, active stressor removal genes, and adhesion related genes that were identified and examined with various phenotypic assays (such as stress tolerance tests in acids and bile salts and auto aggregation and hydrophobicity assays). The strain showed a high survival rate in the presence of bile salts and under acidic conditions and exhibited significant auto aggregation capacity and hydrophobicity. Overall, L. salivarius CGMCC20700 demonstrated excellent safety and probiotic potential at both the genomic and physiological levels and can be considered an appropriate candidate probiotic for livestock and poultry farming.

6.
Ann Clin Lab Sci ; 53(1): 82-93, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36889764

ABSTRACT

OBJECTIVE: This study aimed to examine the function of long non-coding RNA HAND2 antisense RNA 1 (HAND2-AS1) in colorectal cancer (CRC) and explore its underlying mechanism of action. METHODS: HAND2-AS1, microRNA (miR)-3118, and leptin receptor (LEPR) levels were determined using western blot analysis and reverse transcription quantitative polymerase chain reaction (RT-qPCR). RNA-binding protein immunoprecipitation (RIP) and luciferase reporter assays were performed to evaluate the relationship between HAND2-AS1, miR-3118, and LEPR. Overexpression of genes in CRC cell lines was performed by transfection with the overexpression vector or miR-mimic. Cell proliferation, migration, and apoptosis-related protein levels were evaluated using the Cell Counting Kit-8 (CCK-8), Transwell, and western blotting assays. A CRC xenograft mouse model was established to verify the role of HAND2-AS1 in CRC in vivo. RESULTS: In both CRC cell lines and CRC tumor samples the HAND2-AS1 expression was reduced. Upregulation of HAND2-AS1 levels inhibited CRC cell line proliferation and migration, initiated apoptosis, and suppressed the growth of CRC xenografted tumors. In addition, HAND2-AS1 sponges miR-3118, which is up-regulated in CRC. Moreover, miR-3118 overexpression promoted CRC cell line proliferation along with cell migration, but hindered apoptosis of cells, along with altering the consequences of high expression levels of HAND2-AS1 in CRC cells. In addition, miR-3118 can target LEPR, which is downregulated in CRC. The effect of miR-3118 on CRC cells was blocked by LERP overexpression. CONCLUSION: HAND2-AS1 effectively inhibited CRC progression by sponging the miR-3118-LEPR axis. Our results may facilitate the development of therapeutic interventions for CRC.


Subject(s)
Colorectal Neoplasms , MicroRNAs , RNA, Long Noncoding , Humans , Animals , Mice , MicroRNAs/genetics , MicroRNAs/metabolism , RNA, Long Noncoding/genetics , RNA, Long Noncoding/metabolism , Receptors, Leptin/genetics , Receptors, Leptin/metabolism , Cell Line, Tumor , Cell Proliferation/genetics , Cell Movement/genetics , Colorectal Neoplasms/metabolism , Gene Expression Regulation, Neoplastic/genetics
7.
Front Plant Sci ; 14: 1309038, 2023.
Article in English | MEDLINE | ID: mdl-38264031

ABSTRACT

Gastrodia elata Blume, a fully mycoheterotrophic perennial plant of the family Orchidaceae, is a traditional Chinese herb with medicinal and edible value. Interestingly, G. elata requires symbiotic relationships with Mycena and Armillaria strains for seed germination and plant growth, respectively. However, there is no comprehensive summary of the symbiotic mechanism between fungi and G. elata. Here, the colonization and digestion of hyphae, the bidirectional exchange of nutrients, the adaptation of fungi and G. elata to symbiosis, and the role of microorganisms and secondary metabolites in the symbiotic relationship between fungi and G. elata are summarized. We comprehensively and deeply analyzed the mechanism of symbiosis between G. elata and fungi from three perspectives: morphology, nutrition, and molecules. The aim of this review was to enrich the understanding of the mutualistic symbiosis mechanisms between plants and fungi and lay a theoretical foundation for the ecological cultivation of G. elata.

8.
Front Microbiol ; 13: 1014970, 2022.
Article in English | MEDLINE | ID: mdl-36386721

ABSTRACT

As a fish unique to Yunnan Province in China, Sinocyclocheilus grahami hosts abundant potential probiotic resources in its intestinal tract. However, the genomic characteristics of the probiotic potential bacteria in its intestine and their effects on S. grahami have not yet been established. In this study, we investigated the functional genomics and host response of a strain, Lactobacillus salivarius S01, isolated from the intestine of S. grahami (bred in captivity). The results revealed that the total length of the genome was 1,737,623 bp (GC content, 33.09%), comprised of 1895 genes, including 22 rRNA operons and 78 transfer RNA genes. Three clusters of antibacterial substances related genes were identified using antiSMASH and BAGEL4 database predictions. In addition, manual examination confirmed the presence of functional genes related to stress resistance, adhesion, immunity, and other genes responsible for probiotic potential in the genome of L. salivarius S01. Subsequently, the probiotic effect of L. salivarius S01 was investigated in vivo by feeding S. grahami a diet with bacterial supplementation. The results showed that potential probiotic supplementation increased the activity of antioxidant enzymes (SOD, CAT, and POD) in the hepar and reduced oxidative damage (MDA). Furthermore, the gut microbial community and diversity of S. grahami from different treatment groups were compared using high-throughput sequencing. The diversity index of the gut microbial community in the group supplemented with potential probiotics was higher than that in the control group, indicating that supplementation with potential probiotics increased gut microbial diversity. At the phylum level, the abundance of Proteobacteria decreased with potential probiotic supplementation, while the abundance of Firmicutes, Actinobacteriota, and Bacteroidota increased. At the genus level, there was a decrease in the abundance of the pathogenic bacterium Aeromonas and an increase in the abundance of the potential probiotic bacterium Bifidobacterium. The results of this study suggest that L. salivarius S01 is a promising potential probiotic candidate that provides multiple benefits for the microbiome of S. grahami.

9.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-976130

ABSTRACT

@#Objective - To investigate the effect of lung flora dysbiosis on the process of pulmonary fibrosis and lung epithelial ( ) Methods - mesenchymal transition EMT in mice with silicosis. Male C57BL/6 mice of specific pathogen free grade were , , , ( ) randomly divided into the blank control group silicosis model group solvent control group vancomycin VM + ampicillin ( ) , ( ) ( ) , AMP group metronidazole MNZ + neomycin NEO group and mixed treatment group 12 mice in each group. Except for , , the blank control group which was given 20.0 µL of 0.9% NaCl solution the other five groups of mice were dosed with 20.0 µL of silica dust suspension at a mass concentration of 250.0 g/L using a single tracheal drip to establish the silicosis mouse model. : The intranasal drip method was used to treat silicosis mice in each group as following mice in the solvent control group were - ; ; given double distilled water mice in the VM+AMP group were given VM at a mass concentration of 0.5 g/L and AMP at 1.0 g/L ; mice in the MNZ+NEO group were given MNZ at a mass concentration of 1.0 g/L and NEO at 1.0 g/L mice in the mixed , treatment group were given the same doses of the four antibiotics mentioned above all in a drip volume of 50.0 µL. Silicosis , , mice were treated seven days and half an hour before silica dusting and 7 14 and 21 days after silica dusting. Mouse lungtissue was collected aseptically 28 days after silica dusting. Hematoxylin eosin and Masson trichrome staining methods were - used to observe the pathological changes. Western blotting was used to detect the relative protein expression of α smooth muscle ( - ), - ( - ) ( ) actin α SMA E cadherin E CAD and vimentin VIM . Immunohistochemistry was used to detect the relative expression of - - E CAD and VIM. Real time fluorescence quantitative polymerase chain reaction was used to detect the expression levels of (Col1a2) Results collagen type Ⅰ alpha 2 mRNA in lung tissues. The histopathological results showed that the alveoli of the , blank control group were thin and structurally intact with few surrounding infiltrating inflammatory cells and no abnormal , distribution of collagen fibers. The alveoli of the silicosis model group were structurally disorganized with a large number of , , infiltrating inflammatory cells thickened alveolar walls and cellular fibrous nodules with abundant blue collagen deposit. In the , , VM+AMP group MNZ+NEO group and the mixed treatment group the inflammation and fibrosis were reduced with diferent degrees in the lung tissues compared to the silicosis model group and the solvent control group. The relative expression levels of - , Col1a2 α SMA VIM protein and mRNA in lung tissues of mice in the silicosis model group were higher than those in the blank ( P ), -CAD control group all <0.05 and the relative expression levels of E protein were lower than those in the blank control (P ) - , Col1a2 group <0.05 . The relative expression levels of α SMA VIM protein and mRNA in lung tissues of mice in the MNZ+ ( P ), -CAD NEO group and the mixed treatment group were lower all <0.05 and the relative expression levels of E protein were (P ), Conclusion higher <0.05 when compared with the silicosis model group and the solvent control group. Pulmonary fibrosis , - was reduced in silicosis mice with interventions in lung flora where anaerobic and gram negative bacteria affected pulmonary fibrosis and dysbiosis of the lung flora affected pulmonary EMT.

10.
Clin Interv Aging ; 15: 1831-1839, 2020.
Article in English | MEDLINE | ID: mdl-33061333

ABSTRACT

OBJECTIVE: Early-onset dementia (EOD) is a relatively uncommon form of dementia that afflicts people before age 65. Only a few studies analyzing the genetics of EOD have been performed in the Chinese Han population. Diagnosing EOD remains a challenge due to the diverse genetic and clinical heterogeneity of these diseases. The aim of this study was to investigate the genetic spectrum and clinical features of Chinese patients with EOD. MATERIALS AND METHODS: A total of 49 EOD patients were recruited. Targeted next-generation (NGS) analyses were performed to screen for all of the known genes associated with dementia. Possible pathogenic variants were confirmed by performing Sanger sequencing. The genetic spectrum and clinical features of the EOD patients were analyzed. RESULTS: Seven previously reported pathogenic variants (p.I213T and p.W165C in PSEN1; p.D678N in APP; c.1349_1352del in TBK1; p.P301L and p.R406W in MAPT; p.R110C in NOTCH3) and two novel variants of uncertain significance (p.P436L in PSEN2; c.239-11G>A in TARDBP) were identified. CONCLUSION: Our study demonstrated the genetic spectrum and clinical features of EOD patients, and it reveals that genetic testing of known causal genes in EOD patients can help to make a precise diagnosis.


Subject(s)
Age of Onset , Dementia/genetics , Genetic Testing , High-Throughput Nucleotide Sequencing , Asian People/genetics , Female , Genotyping Techniques , Humans , Male , Middle Aged , Presenilin-2/genetics
11.
Nanotechnology ; 31(47): 475707, 2020 Nov 20.
Article in English | MEDLINE | ID: mdl-32885793

ABSTRACT

In high-voltage direct current transmission systems, charges accumulate at the gas-solid interface, distorting the local field strength, causing a reduction in the flashover voltage, and threatening the safe and reliable operation of the power system. The latest research has found that doping metal nanoparticles into an epoxy resin effectively suppresses the surface charge accumulation on insulators and improves their flashover voltage. This paper further analyzes the microscopic mechanism of this phenomenon, establishes a single-electron tunneling mode, and draws two conclusions: when there is no agglomeration of the doped nanoparticles, a higher doping concentration can be achieved, which provides a better insulative performance. The optimal metal nanoparticle radius is several to tens of nanometers. This work provides theoretical guidance for the future improvement of insulating materials through metal nanoparticle doping and has good prospects in engineering applications.

12.
Nanotechnology ; 31(32): 324001, 2020 Aug 07.
Article in English | MEDLINE | ID: mdl-32315989

ABSTRACT

In high-voltage direct current (HVDC) transmission systems, electric charge accumulates on insulator surfaces, causing surface electric field distortion and flashover voltage reduction. Therefore, studying a material that can improve the insulator surface insulation strength is of great engineering value. In this work, several types of metal nanoparticles with different particle sizes and concentrations are doped into epoxy resin. The experimental phenomena enables some interesting conclusions: when no agglomeration of doped nanoparticles occurs, a higher doping concentration provides a better insulation performance. The larger the doping particle size is, the lower the insulation performance. Additionally, under the same conditions, different types of metal nanoparticles lead to slightly different results after doping. Especially after doping with low concentration (approximately 120 parts per million (ppm)) and small particle size (approximately 10 nm) nanocopper particles, the insulator surface charge accumulation was effectively suppressed, and the flashover voltage was significantly improved. Our analysis suggests that it may be related to the single-electron tunneling phenomenon. Relevant results provide a new way to improve the surface insulation strength of insulators in the future.

13.
Vector Borne Zoonotic Dis ; 20(3): 205-211, 2020 03.
Article in English | MEDLINE | ID: mdl-31710275

ABSTRACT

Trichinosis is a worldwide zoonotic disease closely related to cultural and dietary habits caused by a nematode Trichinella spp. The drugs for its prevention and treatment are still not thoroughly defined. Wortmannilactone F was used to value the therapeutic effects on the worm reduction rates, change of the intestinal mucosa, and the host's body's immune activity in this experiment. BALB/c mice were orally fed with 200 infective Trichinella spiralis larvae. Then, T. spiralis-infected mice were treated with wortmannilactone F (50, 100, and 200 mg/kg). The number and morphological analysis of adult worm, the expression of Factor associated suicide (Fas), and the level of SIgA in the mice were investigated. Wortmannilactone F showed dose-dependent anthelmintic effects by causing mortality of worms, obvious damaging effects on mature T. spiralis' surface and their digestive systems, decreasing the expression of mice's intestinal mucosa's Fas protein, and reducing intestinal mucosa's level of SIgA secretions. Wortmannilactone F is expected to be a potential therapeutic drug for trichinellosis treatment.


Subject(s)
Macrolides/pharmacology , Trichinella spiralis/drug effects , Trichinellosis/drug therapy , Animals , Female , Macrolides/chemistry , Mice , Mice, Inbred BALB C
15.
Chem Asian J ; 14(15): 2656-2661, 2019 Aug 01.
Article in English | MEDLINE | ID: mdl-31134734

ABSTRACT

Herein, we report the conjugate addition of α,ß-unsaturated carbonyl compounds to thiophene derivatives. We used a 2-iodoimidazolinium triflate salt as a halogen-bonding donor, which afforded moderate-to-excellent yields of the corresponding alkylated thiophenes. Insight into the catalytic process was obtained from 1 H NMR spectroscopy studies and DFT calculations, which indicated a halogen-bonding-supported mechanism with limited Brønsted acid catalysis.

16.
J Org Chem ; 83(17): 10389-10397, 2018 Sep 07.
Article in English | MEDLINE | ID: mdl-30037224

ABSTRACT

Recently, we realized the highly selective one-pot synthesis of 2,6-diarylpyridines by using a Pd-catalyzed direct C-H arylation approach via a transient activator strategy. Although methylation reagent as a transient activator and Cu(I) salt or oxide were found to be prerequisites, details regarding the mechanism remained unclear. In this paper, DFT calculations combined with experimental investigations were carried out to elucidate the principle features of this transformation. The results reveal (1) the origin of the exquisite diarylating selectivity of the pyridine under the transient strategy; (2) the possible demethylating reagent as the counteranion of the pyridinium salt; (3) the reason why Cu2O is a better Cu(I) resource than others.

17.
BMC Neurol ; 16(1): 179, 2016 Sep 20.
Article in English | MEDLINE | ID: mdl-27644330

ABSTRACT

BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a group of neurodegenerative disorders characterized by early onset of gait impairment, disturbed limb coordination, dysarthria, and eye movement abnormalities, most likely due to the degeneration of cerebellum, brainstem, and spinal cord. Despite of the rarity, ARCA are both clinically and genetically heterogeneous. To date, more than 30 culprit genes have been identified in ARCA. Unraveling the specific causative mutation in cases with ARCA remains challenging so far. METHODS: Three ARCA pedigrees of Chinese ancestry were recruited. Clinical features were evaluated and peripheral blood was collected after obtaining the written inform. Laboratory examinations, brain MRI, and EMG were performed for all the affected individuals. Genomic DNA was extracted, followed by the screening of GAA repeat expansion in FXN gene to exclude Friedreich's ataxia. Targeted next-generation sequencing combining Sanger sequencing was performed in each proband of these families. RESULTS: Compound heterozygous mutations, c.3190G > T (p.E1064X) and c.4883C > G (p.S1628X) of senataxin (SETX) gene were identified in one family with two affected cases. Both of the patients presented with early onset of unsteady walk, dysarthria, and diplopia. EMG test revealed decreased conduction velocity and evoked potential of both motor and sensory nerve. Moreover, elevated serum alpha-fetoprotein (AFP) and apparent cerebellar atrophy were observed. These features were typical features of ataxia with oculomotor apraxia type 2 (AOA2) and in line with the genetic results. However, no specific mutation was identified in the other two pedigrees. CONCLUSIONS: We identified novel compound heterozygous mutations of SETX in Chinese AOA2 pedigree, which broaden the mutation spectrum of SETX. To our knowledge, this is the first report concerning Chinese AOA2 cases with SETX mutations.


Subject(s)
Cerebellar Ataxia/genetics , Ocular Motility Disorders/genetics , RNA Helicases/genetics , Adult , Asian People/genetics , China , DNA Helicases , Female , Genes, Recessive , Humans , Male , Multifunctional Enzymes , Mutation , Pedigree , Young Adult
18.
Neurol Genet ; 2(3): e74, 2016 Jun.
Article in English | MEDLINE | ID: mdl-27158664

ABSTRACT

Neuroferritinopathy is a rare autosomal dominant movement disorder caused by mutations of the FTL gene.(1) It is clinically characterized by adult-onset progressive extrapyramidal syndrome, including chorea, dystonia, and parkinsonism.(2) Brain MRI demonstrates the deposition of iron and ferritin in the basal ganglia.(3) To date, several Caucasian families and 2 Japanese families have been reported worldwide.(2) We present a Chinese neuroferritinopathy pedigree with 5 patients and the FTL mutation.

19.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-286847

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the relationship between the reference values of fibrinogen (FIB) in healthy Chinese adults and geographical factors to provide scientific evidences for establishing the uniform standard.</p><p><b>METHODS</b>The reference values of FIB of 10701 Chinese healthy adults from 103 cities were collected to investigate their relationship with 18 geographical factors including spatial index, terrain index, climate index, and soil index. Geographical factors that significantly correlated with the reference values were selected for constructing the BP neural network model. The spatial distribution map of the reference value of FIB of healthy Chinese adults was fitted by disjunctive kriging interpolation. We used the 5-layer neural network and selected 2000 times of training covering 11 hidden layers to build the simulation rule for simulating the relationship between FIB and geographical environmental factors using the MATLAB software.</p><p><b>RESULTS</b>s The reference value of FIB in healthy Chinese adults was significantly correlated with the latitude, sunshine duration, annual average temperature, annual average relative humidity, annual precipitation, annual range of air temperature, average annual soil gravel content, and soil cation exchange capacity (silt). The artificial neural networks were created to analyze the simulation of the selected indicators of geographical factors. The spatial distribution map of the reference values of FIB in healthy Chinese adults showed a distribution pattern that FIB levels were higher in the South and lower in the North, and higher in the East and lower in the West.</p><p><b>CONCLUSION</b>When the geographical factors of a certain area are known, the reference values of FIB in healthy Chinese adults can be obtained by establishing the neural network mode or plotting the spatial distribution map.</p>


Subject(s)
Adult , Humans , Asian People , China , Climate , Environment , Fibrinogen , Geography , Neural Networks, Computer , Reference Values , Software , Temperature
20.
Sensors (Basel) ; 15(10): 25716-29, 2015 Oct 12.
Article in English | MEDLINE | ID: mdl-26473862

ABSTRACT

In this study we developed a low cost sensor for measuring the concentration of hydrogen peroxide (H2O2) in liquids utilizing a spectrometric method. The sensor was tested using various concentrations of a peroxidase enzyme immobilized on a glass substrate. H2O2 can be catalyzed by peroxidase and converted into water and oxygen. The reagent 4-amino-phenazone takes up oxygen together with phenol to form a colored product that has absorption peaks at 510 nm and 450 nm. The transmission intensity is strongly related to the hydrogen peroxide concentration, so can be used for quantitative analysis. The measurement range for hydrogen peroxide is from 5 × 10(-)5% to 1 × 10(-3)% (0.5 ppm to 10 ppm) and the results show high linearity. This device can achieve a sensitivity and resolution of 41,400 (photon count/%) and 3.49 × 10(-5)% (0.35 ppm), respectively. The response time of the sensor is less than 3 min and the sensor can be reused for 10 applications with similar performance.


Subject(s)
Hydrogen Peroxide/analysis , Optics and Photonics/instrumentation , Optics and Photonics/methods , Spectrum Analysis/instrumentation , Spectrum Analysis/methods , Calibration , Equipment Reuse , Limit of Detection
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