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2.
Front Plant Sci ; 15: 1331496, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38375079

RESUMO

Introduction: To withstand high temperatures that would be lethal to a plant in the naïve state, land plants must establish heat stress memory. The acquisition of heat stress tolerance via heat stress memory in algae has only been observed in the red alga 'Bangia' sp. ESS1. Methods: In this study, we further evaluated the intrinsic ability of this alga to establish heat stress memory by monitoring hydrogen peroxide (H2O2) production and examining the relationship between heat stress memory and the expression of genes encoding nitrogen transporters, since heat stress generally reduces nitrogen absorption. Next, genes encoding nitrogen transporters were selected from our unpublished transcriptome data of 'Bangia' sp. ESS1. Results: We observed a reduction in H2O2 content when heat stress memory was established in the alga. In addition, six ammonium transporter genes, a single-copy nitrate transporter gene and two urea transporter genes were identified. Two of these nitrogen transporter genes were induced by heat stress but not by heat stress memory, two genes showed heat stress memory-dependent expression, and one gene was induced by both treatments. Heat stress memory therefore differentially regulated the expression of the nitrogen transporter genes by reducing heat stress-inducible gene expression and inducing heat stress memory-dependent gene expression. Discussion: These findings point to the functional diversity of nitrogen transporter genes, which play different roles under various heat stress conditions. The characteristic effects of heat stress memory on the expression of individual nitrogen transporter genes might represent an indispensable strategy for reducing the threshold of sensitivity to recurrent high-temperature conditions and for maintaining nitrogen absorption under such conditions in 'Bangia' sp. ESS1.

3.
Per Med ; 20(6): 467-475, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37937420

RESUMO

Background: Noninvasive prenatal tests for monogenic diseases (NIPT-SGG) have recently been reported as helpful in early-stage antenatal screening. Our study describes the clinical and genetic features of cases identified by NIPT-SGG. Materials & methods: In a cohort pregnancy with abnormal sonograms, affected cases were confirmed by invasive diagnostic tests concurrently, with NIPT-SGG targeting 25 common dominant single-gene diseases. Results: A total of 13 single-gene fetuses were confirmed, including Noonan and Costello syndromes, thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta and Apert syndrome. Two novel variants seen were tuberous sclerosis complex (TSC2 c.4154G>A) and Alagille syndrome (JAG1 c.3452del). Conclusion: NIPT-SGG and standard tests agree on the results for 13 fetuses with monogenic disorders. This panel method of screening can benefit high-risk Vietnamese pregnancies, but further research is encouraged to expand on the causative gene panel.


Assuntos
Diagnóstico Pré-Natal , Displasia Tanatofórica , Gravidez , Feminino , Humanos , Vietnã , Displasia Tanatofórica/diagnóstico , Displasia Tanatofórica/genética , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos
4.
Int J Gen Med ; 16: 4525-4535, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37814641

RESUMO

Objective: To evaluate the value of contrast volume/glomerular filtration ratio (Vc/eGFR ratio) and urine Neutrophil Gelatinase-Associated Lipocalin (uNGAL) in predicting the progression contract associated-acute kidney injury (CA-AKI) to chronic kidney disease (CKD) in planned percutaneous coronary intervention (PCI) patients. Patients and Methods: We examined 387 adult patients who had undergone planned percutaneous coronary intervention (PCI). We determined acute kidney injury (AKI) and chronic kidney disease (CKD) using the criteria set by the Kidney Disease: Improving Global Outcomes (KDIGO). We calculated the estimated glomerular filtration rate (eGFR) using the CKD-EPI formula based on serum creatinine levels. To determine the Vc/eGFR ratio, we considered the contrast medium volume and eGFR for each patient. Additionally, we measured urine NGAL levels using the ELISA method. Results: The percentage of CA-AKI patients who developed CKD after planned PCI was 36.36%. Within the CA-AKI to CKD group, the Vc/eGFR ratio was 2.82, and uNGAL levels were significantly higher at 72.74 ng/mL compared to 1.93 ng/mL for Vc/eGFR ratio and 46.57 ng/mL for uNGAL in the recovery CA-AKI group. This difference was statistically significant (p<0.001). Diabetic mellitus, urine NGAL concentration, and Vc/eGFR ratio were found to be independent factors in the progression of CA-AKI to CKD. The Vc/eGFR ratio and uNGAL showed predictive capabilities for progressing CA-AKI to CKD with an AUC of 0.884 and 0.878, respectively. The sensitivity was 81.3% for both, while the specificity was 89.3% for Vc/eGFR ratio and 85.7% for uNGAL. Conclusion: The Vc/eGFR ratio and uNGAL were good predictors for CA-AKI to CKD in planned PCI patients.

5.
Heliyon ; 9(8): e19148, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37636421

RESUMO

Introduction: Piper lolot is a species of herb used as a popular food in Vietnam. Furthermore, the species has been used as a Vietnamese traditional medicine to treat many diseases. Methods: Chemical constituents in the essential oil from leaves of Piper lolot were determined using GC/MS analysis. The anti-gout and anti-diabetic activities of the essential oil were determined through the inhibitory assays against xanthine oxidase, α-glucosidase and α-amylase enzymes. In addition, molecular docking simulations were used to elucidate the inhibitory mechanism between the main compounds and the enzymes. Results: The dominant constituents of the Piper lolot essential oils were determined as ß-caryophyllene (20.6%), ß-bisabolene (11.6%), ß-selinene (8.4%), ß-elemene (7.7%), trans-muurola-4(14),5-diene (7.4%), and (E)-ß-ocimene (6.7%). The essential oil displayed xanthine oxidase, α-amylase, and α-glucosidase inhibitory activities with IC50 values of 28.4, 130.6, and 59.1 µg/mL, respectively. The anti-gout and anti-diabetic activities of the essential oil from the P. lolot species are reported for the first time. Furthermore, molecular docking simulation was consistent to in vitro experiments. Conclusion: The present study provides initial evidence that the essential oil of P. lolot may be a potential natural source to develop new diabetes preparations.

6.
Per Med ; 20(5): 425-433, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37623819

RESUMO

Background: Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions. Methods: NIPT-SGG with a 30-gene panel applied next-generation sequencing and trio assays to confirm de novo variants. Diagnostic tests confirmed NIPT-detected cases. Results: Among 93 pregnancies with ultrasound findings, 11 (11.8%) fetuses were screened and diagnosed with monogenic diseases, mostly with Noonan syndrome. NIPT-SGG determined >99.99% of actual positive and negative cases, confirmed by diagnostic tests. No false-negatives or false-positives were reported. Conclusion: NIPT-SGG effectively identifies the fetuses affected with monogenic diseases, which is a promisingly safe and timely antenatal screening option for high-risk pregnancies.


Assuntos
Teste Pré-Natal não Invasivo , Gravidez , Feminino , Recém-Nascido , Humanos , Vietnã , Diagnóstico Pré-Natal
7.
Curr Biol ; 33(15): 3179-3191.e4, 2023 08 07.
Artigo em Inglês | MEDLINE | ID: mdl-37437573

RESUMO

The ability to determine the distance to objects is an important feature of most visual systems, but little is known about the neuronal mechanisms for distance estimation. Larval zebrafish execute different visual behaviors depending on distance; at medium distances, they converge their eyes and approach, but when the prey is close enough, they execute a strike and suck the prey into their mouths. To study distance estimation, we developed a head-fixed strike assay. We found that we could evoke strike behavior in head-fixed larvae and quantify head movements to classify the behavior as a strike. Strikes were dependent on distance to prey, allowing us to use them to study distance estimation. Light intensity is rapidly attenuated as it travels through water, so we hypothesized that larvae could use intensity as a distance cue. We found that increasing stimulus intensity could cause larvae to strike at prey that would normally be out of range, and decreasing the intensity could lower the strike rate even for very proximal stimuli. In addition, stimulus contrast is a key parameter, and this could allow larvae to estimate distance over the range of natural illumination. Finally, we presented prey in the binocular vs. monocular visual field and found that monocular prey did evoke strikes, although the binocular input produced more. These results suggest that strike behavior is optimally evoked by bright UV dots in the binocular zone with minimal UV background light and provide a foundation to study the neuronal mechanisms of distance estimation.


Assuntos
Boca , Peixe-Zebra , Animais , Larva/fisiologia , Peixe-Zebra/fisiologia , Comportamento Alimentar/fisiologia , Comportamento Predatório/fisiologia
8.
Plants (Basel) ; 12(11)2023 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-37299052

RESUMO

Heat shock protein 70 (HSP70) is an evolutionarily conserved protein chaperone in prokaryotic and eukaryotic organisms. This family is involved in the maintenance of physiological homeostasis by ensuring the proper folding and refolding of proteins. The HSP70 family in terrestrial plants can be divided into cytoplasm, endoplasmic reticulum (ER)-, mitochondrion (MT)-, and chloroplast (CP)-localized HSP70 subfamilies. In the marine red alga Neopyropia yezoensis, the heat-inducible expression of two cytoplasmic HSP70 genes has been characterized; however, little is known about the presence of other HSP70 subfamilies and their expression profiles under heat stress conditions. Here, we identified genes encoding one MT and two ER HSP70 proteins and confirmed their heat-inducible expression at 25 °C. In addition, we determined that membrane fluidization directs gene expression for the ER-, MT-, and CP-localized HSP70 proteins as with cytoplasmic HSP70s. The gene for the CP-localized HSP70 is carried by the chloroplast genome; thus, our results indicate that membrane fluidization is a trigger for the coordinated heat-driven induction of HSP70 genes harbored by the nuclear and plastid genomes in N. yezoensis. We propose this mechanism as a unique regulatory system common in the Bangiales, in which the CP-localized HSP70 is usually encoded in the chloroplast genome.

9.
Faraday Discuss ; 243(0): 148-163, 2023 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-37057657

RESUMO

N2 dissociative adsorption is commonly the rate-determining step in thermal ammonia synthesis. Herein, we performed density functional theory (DFT) calculations to understand the N2 dissociation mechanism on models of unsupported Ru(0001) terraces, Ru B5 sites, and polar MgO(111)-supported Ru8 cluster mimicking a B5 site geometry, denoted (Ru8(B5-like)/MgO(111)). The activation energy of N2 dissociative adsorption on the Ru8(B5-like)/MgO(111) model (Ea = 0.33 eV) is much lower than that on the unsupported Ru(0001) terrace (Ea = 1.74 eV) and Ru B5 (Ea = 0.62 eV) models. The lower N2 dissociation barrier on Ru B5 sites is facilitated by the enhanced σ donation and π* back-donation between N2(σ, π*) and Ru(d) orbitals resulting in the stronger activation of the molecular side-on N2* dissociation precursor. The Ru8(B5-like)/MgO(111) also exhibits enhanced σ donation because of the B5-like cluster geometry. Furthermore, the Ru cluster of the bare Ru8(B5-like)/MgO(111) model is positively charged. This induced an unusual π donation from N2(π) to Ru(d) orbitals as revealed by analyses of the density of states and partial charge densities. The combined σ and π donation resulted in an increased synergistic π* back-donation. The total interactions between N2(σ, π, π*) and Ru(d) resulted in an overall electron transfer to the adsorbed N2 from the Ru atoms in the B5-like site with no direct involvement of the MgO(111) substrate. Analyses of bond stretching vibrations and bond lengths show that the N2(σ, π, π*) and Ru(d) interactions lead to a weaker N-N bond and stronger Ru-N bonds. These correspond to a lower barrier of N2 dissociation on the Ru8(B5-like)/MgO(111) model, where the highest red-shift of N-N vibration and the longest N-N bond length were observed after side-on N2* adsorption. These results demonstrate that an electron-deficient Ru catalyst are not always inhibited from donating electrons to adsorbed N2. Rather, this study shows that the electron deficiency of Ru can promote π* back-donation and N2 activation. These new insights may therefore open new avenues to design supported Ru catalysts for nitrogen activation.

10.
Nat Commun ; 14(1): 647, 2023 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-36746965

RESUMO

Ammonia is regarded as an energy vector for hydrogen storage, transport and utilization, which links to usage of renewable energies. However, efficient catalysts for ammonia decomposition and their underlying mechanism yet remain obscure. Here we report that atomically-dispersed Ru atoms on MgO support on its polar (111) facets {denoted as MgO(111)} show the highest rate of ammonia decomposition, as far as we are aware, than all catalysts reported in literature due to the strong metal-support interaction and efficient surface coupling reaction. We have carefully investigated the loading effect of Ru from atomic form to cluster/nanoparticle on MgO(111). Progressive increase of surface Ru concentration, correlated with increase in specific activity per metal site, clearly indicates synergistic metal sites in close proximity, akin to those bimetallic N2 complexes in solution are required for the stepwise dehydrogenation of ammonia to N2/H2, as also supported by DFT modelling. Whereas, beyond surface doping, the specific activity drops substantially upon the formation of Ru cluster/nanoparticle, which challenges the classical view of allegorically higher activity of coordinated Ru atoms in cluster form (B5 sites) than isolated sites.

11.
Biochem Biophys Res Commun ; 649: 25-31, 2023 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-36739696

RESUMO

Chimeric antigen receptor (CAR) T cells and PD-1 antibodies (PD-1 Ab) are emergent immunotherapies with unprecedented efficacy. The presence of PD-1 on T cells contributes to hypofunction of CAR-T therapy and inhibition of PD-1 enhances anti-cancer effect of CAR-T cells. Therefore, the combination of CAR-T cells and PD-1 antibody is a promissing strategy for cancer treatment. This study aims to establish our in-house CAR-T cells and evaluate the safety of CAR-T cells in combination with PD-1 antibody in animals. The toxicity of CD19-CAR-T cells was examined using Swiss Webster mice. Four mouse groups were treated with control, CAR-T, PD-1 antibody or CAR-T + PD-1 antibody. Mice's overall status was monitored and recorded. At the end-point, hematological and biochemical indices were quantified, histopathology of liver and kidney was evaluated by pathologists. The relative abnormal ratio and absolute values were compared between groups. We generated our in-house CAR-T cells and used them for safety evaluation in mice. The increase in mouse weight was observed in all groups after treatment and the weight was comparable between groups. The hematological, biochemical and histopathological parameters were equivalent between groups, except for liver grain degeneration occurred in treatment groups. Thus, CAR-T cells, PD-1 Ab and their combination were safe in mice. We successfully produced our in-house CAR-T cells and the combination of our CAR-T cells and PD-1 antibody was safe in mice with comparable values of hematopoietic indices, liver and kidney functions. Longer follow-up might be necessary to evaluate their effect on the liver.


Assuntos
Receptores de Antígenos de Linfócitos T , Receptores de Antígenos Quiméricos , Camundongos , Animais , Receptor de Morte Celular Programada 1 , Linhagem Celular Tumoral , Linfócitos T , Anticorpos , Imunoterapia Adotiva , Modelos Teóricos
12.
Phys Chem Chem Phys ; 25(6): 4528-4541, 2023 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-36692341

RESUMO

Using molecular statics simulations, we specifically focus on investigating the negative Poisson's ratio of the monolayer, few-layer, van der Waals, and ribbon penta-graphene. As a result, we provide evidence to show that the Poisson's ratio is the combination of bond stretching and angle rotating mechanism. The auxeticity of monolayer penta-graphene is due to the dominance of bond stretching. However, the significant effect of the angle rotating mechanism causes the enhancement of the in-plane Poisson's ratio of few-layer penta-graphene. Furthermore, the elongation of interlayer bonds results in a negative out-of-plane Poisson's ratio in few-layer penta-graphene. The strong dependence of Poisson's ratio on stacking configuration and number of layers was found. We also show that the van der Waals interaction slightly enhances the auxeticity of heterostructure penta-graphene. Finally, we discuss the significant effects of warped edges on the auxeticity of penta-graphene ribbons.

13.
Biochem Biophys Rep ; 33: 101399, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36478893

RESUMO

Immunotherapy, particularly CAR-T therapy has recently emerged as an innovator for cancer treatment. Gamma-irradiated K562 cells is a common and effective method to stimulated CAR-T cells prior to treatment. However, high cost and limited equipment of gamma-irradiation is drawback of this method. This requires the establishment of CAR-T-expanding alternatives, such as X-ray-irradiated K562 cells. X-ray irradiation was used to deactivate K562 cells. The post-irradiative cell survival was investigated by counting of the number of cells, staining with Trypan Blue and PI. FACS analysis was applied to detect the expression of cell surface markers. The production of CD19-CAR-T cells were executed from fresh blood donor by CD19-CAR-plasmid transfection, followed by the stimulation with X-ray-irradiated K562 feeder cells. The function of produced CAR-T cells was checked by their ability to kill Daudi cells. X-ray-irradiation inhibited the propagation and viability of K562 cells in a dose- and time-dependent manner. Interestingly, CAR-T-stimulating effectors were remained on the surface of X-ray-irradiated K562 cells. CD-19-CAR-T cells were produced successfully, suggested by number of CAR-positive cells in transfected and stimulated population, compared to un-transfected group. Lastly, our data showed that engineered CAR-T cells effectively killed Daudi cells. Our data demonstrated the efficacy of X-ray on deactivation K562 feeder cells which subsequently stimulated and expanded functional CAR-T cells. Thus, X-ray can be used as an alternative to inactivate K562 cells prior to using as a feeder of CAR-T cells.

14.
Environ Sci Pollut Res Int ; 30(2): 3197-3212, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35943651

RESUMO

Economic growth is a global requirement that requires extensive energy consumption, and this phenomenon needs researchers' attention and regulators' focus. Thereby, the paper scrutinizes the determinants of energy consumption such as fossil fuel energy consumption (FFEC), energy use, nuclear energy consumption (NEC), energy import, and renewable energy consumption (REC) and sustainability-oriented eco-innovation and their effectiveness on the economic growth of Saudi Arabia. The study extracted data from the World Bank from 1989 to 2020. Stationarity was examined using augmented Dickey-Fuller (ADF) tests, and the associations among constructs were analyzed through QARDL model. The findings revealed that FFEC, EU, NEC, EI, REC, and sustainability-oriented eco-innovation are significantly correlated with the EG of Saudi Arabia. The study also provides insights to new researchers who will investigate this area in the future and guides regulators in developing regulations related to economic growth using an appropriate level of energy and adoption of sustainability-oriented eco-innovation.


Assuntos
Desenvolvimento Econômico , Energia Nuclear , Dióxido de Carbono , Fontes Geradoras de Energia , Energia Renovável
15.
ACS Appl Mater Interfaces ; 14(46): 52035-52045, 2022 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-36346965

RESUMO

Ni-containing heteropolyvanadate, Na6[NiV14O40], was synthesized for the first time to be applied in high-energy lithium storage applications as a negative electrode material. Na6[NiV14O40] can be prepared via a facile solution process that is suitable for low-cost mass production. The as-prepared electrode provided a high capacity of approximately 700 mAh g-1 without degradation for 400 cycles, indicating excellent cycling stability. The mechanism of charge storage was investigated using operando X-ray absorption spectroscopy (XAS), X-ray diffraction (XRD), transition X-ray microscopy (TXM), and density functional theory (DFT) calculations. The results showed that V5+ was reduced to V2+ during lithiation, indicating that Na6[NiV14O40] is an insertion-type material. In addition, Na6[NiV14O40] maintained its amorphous structure with negligible volume expansion/contraction during cycling. Employed as the negative electrode in a lithium-ion battery (LIB), the Na6[NiV14O40]//LiFePO4 full cell had a high energy density of 300 W h kg-1. When applied in a lithium-ion capacitor, the Na6[NiV14O40]//expanded mesocarbon microbead full cell displayed energy densities of 218.5 and 47.9 W h kg-1 at power densities of 175.7 and 7774.2 W kg-1, respectively. These findings reveal that the negative electrode material Na6[NiV14O40] is a promising candidate for Li-ion storage applications.

16.
J Clin Lab Anal ; 36(12): e24757, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36357318

RESUMO

AIM: To determine the proportion of contrast-associated acute kidney injury (CA-AKI) after percutaneous coronary intervention (PCI) and the predictive value of urine neutrophil gelatinase-associated lipocalin (uNGAL) for CA-AKI in elderly patients with chronic coronary artery disease. METHODS: A total of 509 patients who had planned percutaneous coronary intervention (mean age was 63.58 ± 11.63 years and 63.3% of males) were divided into two groups: group 1 (n = 153; elderly patients) with ≥70 years old and group 2 (n = 356) with <70 years old. Urine NGAL was measured by the ELISA method. Clinical and laboratory data were collected on the day before intervention. CA-AKI was defined based on Kidney Disease: Improving Global Outcomes criteria. RESULTS: The ratio of CA-AKI in group 1 was 23.5% which was higher than that of group 2 (8.7%) with a p-value < 0.001. Urine NGAL level in group 1 was significantly higher than that of group 2 [31.3 (19.16-55.13) ng/ml vs. 19.86 (13.21-29.04) ng/ml, p < 0.001]. At a cut-off value of 44.43 ng/ml, uNGAL had a predictive value for CA-AKI in all patients (AUC = 0.977, p < 0.001). Especially at a cut-off value of 44.14 ng/ml, uNGAL had a predictive value for CA-AKI in elderly patients (AUC = 0.979, p < 0.001). CONCLUSIONS: The rate of CA-AKI after PCI in elderly patients was 23.5%. Urine NGAL before PCI had a good predictive value for CA-AKI in elderly patients with chronic coronary artery disease.


Assuntos
Injúria Renal Aguda , Doença da Artéria Coronariana , Intervenção Coronária Percutânea , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Injúria Renal Aguda/induzido quimicamente , Injúria Renal Aguda/epidemiologia , Proteínas de Fase Aguda/urina , Biomarcadores/urina , Doença da Artéria Coronariana/cirurgia , Lipocalina-2 , Lipocalinas/urina , Intervenção Coronária Percutânea/efeitos adversos , Proteínas Proto-Oncogênicas , Feminino
17.
Euphytica ; 218(6): 74, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36060537

RESUMO

Salt stress is a major constraint across large rice production areas in Asia, because of the high sensitivity of modern rice varieties. To identify quantitative trait loci (QTL) associated with salt tolerance in rice, we developed an F2 population from a cross between the salt-tolerant landrace, Kalarata, and the salt-sensitive parent, Azucena. F3 families from this population were screened and scored for salt tolerance using IRRI's Standard evaluation system (SES). Growth, biomass, Na+ and K+ concentrations in leaf tissues, and chlorophyll concentration were determined. A genetic linkage map was constructed with 151 SSRs and InDel markers, which cover 1463 cM with an average distance of 9.69 cM between loci. A total of 13 QTL were identified using Composite Interval Mapping for 16 traits. Several novel QTL were identified in this study, the largest is for root sodium concentration (LOD = 11.0, R2 = 25.0) on chromosome 3, which also co-localize with a QTL for SES. Several QTL on the short arm of chromosome 1 coincide with the Saltol locus identified before. The novel QTL identified in this study constitute future targets for molecular breeding, to combine them with other QTL identified before, for higher tolerance and stable performance of rice varieties in salt affected soils. Supplementary Information: The online version contains supplementary material available at 10.1007/s10681-022-03026-8.

18.
Hemoglobin ; 46(4): 233-239, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35993587

RESUMO

Vietnam has a high thalassemia burden. We collected blood samples from 5880 pregnant Vietnamese women during prenatal health checks to assess thalassemia carrier frequency using combined gap-polymerase chain reaction (gap-PCR) and targeted next-generation sequencing (NGS). Thalassemia carriers were identified with prevalence of 13.13% (772), including 7.82% (460) carriers of α-thalassemia (α-thal), 5.31% (312) carriers of ß-thalassemia (ß-thal), and 0.63% (37) concurrent α-/ß-thal carriers. Deletional mutations (368) accounted for 80.0% of α-thal carriers, of which, --SEA (Southeast Asian) (n = 254; 55.0%) was most prevalent, followed by the -α3.7 (rightward) (n = 66; 14.0%) and -α4.2 (leftward) (n = 45; 9.8%) deletions. Hb Westmead (HBA2: c.369C>G) (n = 53) and Hb Constant Spring (Hb CS or HBA2: c.427T>C) (in 28) are the two most common nondeletional α-globin variants, accounting for 11.5 and 6.0% of α-thal carriers. We detected 11 different ß-thal genotypes. Hb E (HBB: c.79G>A) (in 211) accounted for 67.6% of ß-thal carriers. The most common ß-thal genotypes were associated with mutations at codon 17 (A>T) (HBB: c.52A>T), codons 41/42 (-TTCT) (HBB: c.126_129delCTTT), and codon 71/72 (+A) (HBB: c.217_218insA) (prevalence 0.70%, 0.68%, and 0.2%, respectively). Based on mutation frequencies calculated in this study, estimates of 5021 babies in Vietnam are affected with clinically severe thalassemia annually. Our data suggest a higher thalassemia carrier frequency in Vietnam than previously reported. We established that combining NGS with gap-PCR creates an effective large-scale thalassemia screening method that can detect a broad range of mutations.


Assuntos
Talassemia alfa , Talassemia beta , Feminino , Humanos , Gravidez , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia , Talassemia beta/genética , Globinas beta/genética , Gestantes , Vietnã/epidemiologia , Frequência do Gene , Talassemia alfa/diagnóstico , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Reação em Cadeia da Polimerase , Mutação , Códon , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala
19.
Brain Sci ; 12(7)2022 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-35884670

RESUMO

The past decade has witnessed the great success of deep neural networks in various domains. However, deep neural networks are very resource-intensive in terms of energy consumption, data requirements, and high computational costs. With the recent increasing need for the autonomy of machines in the real world, e.g., self-driving vehicles, drones, and collaborative robots, exploitation of deep neural networks in those applications has been actively investigated. In those applications, energy and computational efficiencies are especially important because of the need for real-time responses and the limited energy supply. A promising solution to these previously infeasible applications has recently been given by biologically plausible spiking neural networks. Spiking neural networks aim to bridge the gap between neuroscience and machine learning, using biologically realistic models of neurons to carry out the computation. Due to their functional similarity to the biological neural network, spiking neural networks can embrace the sparsity found in biology and are highly compatible with temporal code. Our contributions in this work are: (i) we give a comprehensive review of theories of biological neurons; (ii) we present various existing spike-based neuron models, which have been studied in neuroscience; (iii) we detail synapse models; (iv) we provide a review of artificial neural networks; (v) we provide detailed guidance on how to train spike-based neuron models; (vi) we revise available spike-based neuron frameworks that have been developed to support implementing spiking neural networks; (vii) finally, we cover existing spiking neural network applications in computer vision and robotics domains. The paper concludes with discussions of future perspectives.

20.
Cells ; 11(9)2022 04 28.
Artigo em Inglês | MEDLINE | ID: mdl-35563791

RESUMO

Heat stress responses are complex regulatory processes, including sensing, signal transduction, and gene expression. However, the exact mechanisms of these processes in seaweeds are not well known. We explored the relationship between membrane physical states and gene expression in the red alga Neopyropia yezoensis. To analyze heat-stress-induced gene expression, we identified two homologs of the heat-inducible high temperature response 2 (HTR2) gene in Neopyropia seriata, named NyHTR2 and NyHTR2L. We found conservation of HTR2 homologs only within the order Bangiales; their products contained a novel conserved cysteine repeat which we designated the Bangiales cysteine-rich motif. A quantitative mRNA analysis showed that expression of NyHTR2 and NyHTR2L was induced by heat stress. However, the membrane fluidizer benzyl alcohol (BA) did not induce expression of these genes, indicating that the effect of heat was not due to membrane fluidization. In contrast, expression of genes encoding multiprotein-bridging factor 1 (NyMBF1) and HSP70s (NyHSP70-1 and NyHSP70-2) was induced by heat stress and by BA, indicating that it involved a membrane-fluidization-dependent pathway. In addition, dark treatment under heat stress promoted expression of NyHTR2, NyHTR2L, NyMBF1, and NyHSP70-2, but not NyHSP70-1; expression of NyHTR2 and NyHTR2L was membrane-fluidization-independent, and that of other genes was membrane-fluidization-dependent. These findings indicate that the heat stress response in N. yezoensis involves membrane-fluidization-dependent and -independent pathways.


Assuntos
Cisteína , Rodófitas , Álcool Benzílico , Cisteína/metabolismo , Expressão Gênica , Proteínas de Choque Térmico HSP70/genética , Proteínas de Choque Térmico HSP70/metabolismo , Resposta ao Choque Térmico/genética , Rodófitas/genética , Rodófitas/metabolismo
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