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1.
Adv Mater ; : e2401982, 2024 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-38609077

RESUMO

Corrosion activities and biofouling pose significant challenges for marine facilities, resulting in substantial economic losses. Inspired by the "brick&mortar" structure of pearls, a novel nanocomposite coating (Pun-HJTx) with long-lasting anti-corrosion and intelligent antifouling modes is fabricated by integrating a compatible MoS2/MXene heterostructure as the "brick" into a polyurea-modified PDMS (Pun) acting as "mortar". Notably, the presence of multiple hydrogen bonds within the coating effectively reduces the pinholes resulted from solution volatilizing. In the dark, where fouling adhesion and microbial corrosion activities are weakened, the MoS2/MXene plays a role in contact bactericidal action. Conversely, during daylight when fouling adhesion and microbial corrosion activities intensify, the coating releases reactive oxygen species (such as hydroxyl radicals and superoxide ions) to counteract fouling adhesion. Additionally, the coating exhibits multi-source self-healing performance under heated or exposed to light (maximum self-healing rate can reach 99.46%) and proves efficient self-cleaning performance and adhesion strength (>2.0 Mpa), making it highly suitable for various practical marine applications. Furthermore, the outstanding performance of the Pun-HJT1 is maintained for approximately 180 days in real-world marine conditions, which proving its practicality and feasibility in real shallow sea environments. This article is protected by copyright. All rights reserved.

2.
Nat Commun ; 15(1): 3257, 2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38627413

RESUMO

Biological nervous system outperforms in both dynamic and static information perception due to their capability to integrate the sensing, memory and processing functions. Reconfigurable neuromorphic transistors, which can be used to emulate different types of biological analogues in a single device, are important for creating compact and efficient neuromorphic computing networks, but their design remains challenging due to the need for opposing physical mechanisms to achieve different functions. Here we report a neuromorphic electrolyte-gated transistor that can be reconfigured to perform physical reservoir and synaptic functions. The device exhibits dynamics with tunable time-scales under optical and electrical stimuli. The nonlinear volatile property is suitable for reservoir computing, which can be used for multimodal pre-processing. The nonvolatility and programmability of the device through ion insertion/extraction achieved via electrolyte gating, which are required to realize synaptic functions, are verified. The device's superior performance in mimicking human perception of dynamic and static multisensory information based on the reconfigurable neuromorphic functions is also demonstrated. The present study provides an exciting paradigm for the realization of multimodal reconfigurable devices and opens an avenue for mimicking biological multisensory fusion.

3.
J Hazard Mater ; 470: 134223, 2024 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-38593664

RESUMO

Elemental carbon (EC) and metals are two important parts of atmospheric black carbon (BC). However, little information is available regarding the interaction between them and its impacts on the reactive oxygen species (ROS) formation and physiological antioxidants depletion. In this study, we chose six most frequently detected metals (Cu(Ⅱ), Fe(Ⅲ), Mn(Ⅱ), Cr(Ⅲ), Pb(Ⅱ) and Zn(Ⅱ)) in BC and examined their interactions with EC in the ROS generation and glutathione (GSH) oxidation. Results showed that only Cu(Ⅱ) and EC synergically promoted the GSH oxidation and hydroxyl radical (•OH) generation. Other five metals had negligible effects on the GSH oxidation regardless of the presence or absence of EC. The synergistic interaction between Cu(Ⅱ) and EC could be attributed to the superior electrical conductivity of EC. In the process, EC transferred electrons from the adjacent GSH to Cu(Ⅱ) through its graphitic carbon framework to yield Cu(Ⅰ) and GSH radical. Cu(Ⅰ) further reacted with dioxygen to generate •OH, which eventually led to the oxidation of GSH. Our results revealed a new driving force inducing the ROS formation and GSH depletion as well as provided novel insights into the risk assessment of BC.

4.
Nat Mater ; 2024 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-38589541

RESUMO

Robust ferroelectricity in nanoscale fluorite oxide-based thin films enables promising applications in silicon-compatible non-volatile memories and logic devices. However, the polar orthorhombic (O) phase of fluorite oxides is a metastable phase that is prone to transforming into the ground-state non-polar monoclinic (M) phase, leading to macroscopic ferroelectric degradation. Here we investigate the reversibility of the O-M phase transition in ZrO2 nanocrystals via in situ visualization of the martensitic transformation at the atomic scale. We reveal that the reversible shear deformation pathway from the O phase to the monoclinic-like (M') state, a compressive-strained M phase, is protected by 90° ferroelectric-ferroelastic switching. Nevertheless, as the M' state gradually accumulates localized strain, a critical tensile strain can pin the ferroelastic domain, resulting in an irreversible M'-M strain relaxation and the loss of ferroelectricity. These findings demonstrate the key role of ferroelastic switching in the reversibility of phase transition and also provide a tensile-strain threshold for stabilizing the metastable ferroelectric phase in fluorite oxide thin films.

5.
Nat Mater ; 2024 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-38589543

RESUMO

Unconventional 1T'-phase transition metal dichalcogenides (TMDs) have aroused tremendous research interest due to their unique phase-dependent physicochemical properties and applications. However, due to the metastable nature of 1T'-TMDs, the controlled synthesis of 1T'-TMD monolayers (MLs) with high phase purity and stability still remains a challenge. Here we report that 4H-Au nanowires (NWs), when used as templates, can induce the quasi-epitaxial growth of high-phase-purity and stable 1T'-TMD MLs, including WS2, WSe2, MoS2 and MoSe2, via a facile and rapid wet-chemical method. The as-synthesized 4H-Au@1T'-TMD core-shell NWs can be used for ultrasensitive surface-enhanced Raman scattering (SERS) detection. For instance, the 4H-Au@1T'-WS2 NWs have achieved attomole-level SERS detections of Rhodamine 6G and a variety of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spike proteins. This work provides insights into the preparation of high-phase-purity and stable 1T'-TMD MLs on metal substrates or templates, showing great potential in various promising applications.

6.
J Am Chem Soc ; 146(14): 9721-9727, 2024 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-38556809

RESUMO

The volumetric density of the metal atomic site is decisive to the operating efficiency of the photosynthetic nanoreactor, yet its rational design and synthesis remain a grand challenge. Herein, we report a shell-regulating approach to enhance the volumetric density of Co atomic sites onto/into multishell ZnxCd1-xS for greatly improving CO2 photoreduction activity. We first establish a quantitative relation between the number of shell layers, specific surface areas, and volumetric density of atomic sites on multishell ZnxCd1-xS and conclude a positive relation between photosynthetic performance and the number of shell layers. The triple-shell ZnxCd1-xS-Co1 achieves the highest CO yield rate of 7629.7 µmol g-1 h-1, superior to those of the double-shell ZnxCd1-xS-Co1 (5882.2 µmol g-1 h-1) and single-shell ZnxCd1-xS-Co1 (4724.2 µmol g-1 h-1). Density functional theory calculations suggest that high-density Co atomic sites can promote the mobility of photogenerated electrons and enhance the adsorption of Co(bpy)32+ to increase CO2 activation (CO2 → CO2* → COOH* → CO* → CO) via the S-Co-bpy interaction, thereby enhancing the efficiency of photocatalytic CO2 reduction.

7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 41(4): 456-460, 2024 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-38565512

RESUMO

OBJECTIVE: To explore the genetic basis for a patient with autosomal dominant retinitis pigmentosa (RP). METHODS: A male patient with RP treated at Gansu Provincial Maternal and Child Health Care Hospital in September 2019 was selected as the study subject. Clinical data was collected. Peripheral blood samples of the patient and his parents were subjected to whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The patient, a 29-year-old male, developed night blindness, amblyopia, visual field defects and optic disc abnormalities since childhood. Gene sequencing revealed that he has harbored a heterozygous c.942G>C (p.Lys314Asn) variant of the IMPDH1 gene, which was inherited from his mother, whilst his father was of the wild type. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.942G>C variant was predicted as likely pathogenic (PM1+PM2_Supporting+PP3+PP1). CONCLUSION: The c.942G>C (p.Lys314Asn) variant in the IMPDH1 gene probably underlay the RP in this patient.


Assuntos
Retinite Pigmentosa , Adulto , Feminino , Humanos , Masculino , Biologia Computacional , Genômica , Heterozigoto , IMP Desidrogenase , Mães , Mutação , Retinite Pigmentosa/genética
8.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 41(4): 467-472, 2024 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-38565514

RESUMO

OBJECTIVE: To analyze the clinical phenotype and genotypes of two children with Carnitine-acylcarnitine translocase deficiency (CACTD). METHODS: Two children diagnosed with CACTD at the Gansu Provincial Maternal and Child Health Care Hospital respectively on January 3 and November 19, 2018 were selected as the study subjects. Trio-whole exome sequencing (trio-WES) was carried out, and candidate variants were validated through Sanger sequencing and pathogenicity analysis. RESULTS: Both children were males and had manifested mainly with hypoglycemia. Trio-WES and Sanger sequencing showed that child 1 had harbored compound heterozygous variants of the SLC25A20 gene, namely c.49G>C (p.Gly17Arg) and c.106-2A>G, which were inherited from his father and mother, respectively. Child 2 had harbored homozygous c.199-10T>G variants of the SLC25A20 gene, which were inherited from both of his parents. Among these, the c.106-2A>G and c.49G>C variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.49G>C (p.Gly17Arg), c.106-2A>G, and c.199-10T>G variants were classified as likely pathogenic (PM2_supporting+PP3+PM3_strong+PP4), pathogenic (PVS1+PM2_supporting+PM5+PP3), and pathogenic (PVS1+PM2_supporting+PP3+PP5), respectively. CONCLUSION: Combined with their clinical phenotype and genetic analysis, both children were diagnosed with CACTD. Above finding has provided a basis for their treatment as well as genetic counseling and prenatal diagnosis for their families.


Assuntos
Carnitina Aciltransferases/deficiência , Aconselhamento Genético , Genômica , Erros Inatos do Metabolismo Lipídico , Criança , Masculino , Feminino , Gravidez , Humanos , Linhagem , Mães , Mutação , Proteínas de Membrana Transportadoras
9.
Small ; : e2401815, 2024 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-38573922

RESUMO

Currently, research on thermal interface materials (TIMs) is primarily focused on enhancing thermal conductivity. However, strong adhesion and multifunctionality are also important characteristics for TIMs when pursing more stable interface heat conduction. Herein, a novel poly(urethane-urea-imide) (PUUI) elastomer containing abundant dynamic hydrogen bonds network and reversible disulfide linkages is successfully synthesized for application as a TIM matrix. The PUUI can self-adapt to the metal substrate surface at moderate temperatures (80 °C) and demonstrates a high adhesion strength of up to 7.39 MPa on aluminum substrates attributed its noncovalent interactions and strong intrinsic cohesion. Additionally, the PUUI displays efficient self-healing capability, which can restore 94% of its original mechanical properties after self-healing for 6 h at room temperature. Furthermore, PUUI composited with aluminum nitride and liquid metal hybrid fillers demonstrates a high thermal conductivity of 3.87 W m-1 K-1 while maintaining remarkable self-healing capability and adhesion. When used as an adhesive-type TIM, it achieves a low thermal contact resistance of 22.1 mm2 K W-1 at zero pressure, only 16.7% of that of commercial thermal pads. This study is expected to break the current research paradigm of TIMs and offers new insights for the development of advanced, reliable, and sustainable TIMs.

10.
Environ Sci Technol ; 58(15): 6804-6813, 2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38512799

RESUMO

The pervasive contamination of novel brominated flame retardants (NBFRs) in remote polar ecosystems has attracted great attention in recent research. However, understanding regarding the trophic transfer behavior of NBFRs in the Arctic and Antarctic marine food webs is limited. In this study, we examined the occurrence and trophodynamics of NBFRs in polar benthic marine sediment and food webs collected from areas around the Chinese Arctic Yellow River Station (n = 57) and Antarctic Great Wall Station (n = 94). ∑7NBFR concentrations were in the range of 1.27-7.47 ng/g lipid weight (lw) and 0.09-1.56 ng/g lw in the Arctic and Antarctic marine biota, respectively, among which decabromodiphenyl ethane (DBDPE) was the predominant compound in all sample types. The biota-sediment bioaccumulation factors (g total organic carbon/g lipid) of NBFRs in the Arctic (0.85-3.40) were 4-fold higher than those in the Antarctica (0.13-0.61). Trophic magnification factors (TMFs) and their 95% confidence interval (95% CI) of individual NBFRs ranged from 0.43 (95% CI: 0.32, 0.60) to 1.32 (0.92, 1.89) and from 0.34 (0.24, 0.49) to 0.92 (0.56, 1.51) in the Arctic and Antarctic marine food webs, respectively. The TMFs of most congeners were significantly lower than 1, indicating a trophic dilution potential. This is one of the very few investigations on the trophic transfer of NBFRs in remote Arctic and Antarctic marine ecosystems, which provides a basis for exploring the ecological risks of NBFRs in polar regions.


Assuntos
Retardadores de Chama , Regiões Antárticas , Retardadores de Chama/análise , Cadeia Alimentar , Ecossistema , Bioacumulação , Regiões Árticas , Monitoramento Ambiental , Lipídeos , Éteres Difenil Halogenados/análise
11.
Small Methods ; : e2400336, 2024 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-38517268

RESUMO

Industrializing water electrolyzers demands better electrocatalysts, especially for the anodic oxygen evolution reaction (OER). The prevailing OER catalysts are Ir or Ru-based nanomaterials, however, they still suffer from insufficient stability. An alternative yet considerably less explored approach is to upgrade Rh, a known stable but moderately active element for OER electrocatalysis, via rational structural engineering. Herein, a precise synthesis of assembled RhRuFe trimetallenes (RhRuFe TMs) with an average thickness of 1 nm for boosting overall water splitting catalysis is reported. Favorable mass transport and optimized electronic structure collectively render RhRuFe TMs with an improved OER activity of an overpotential of 330 mV to deliver 10 mA cm-2, which is significantly lower than the Rh/C control (by 601 mV) and reported Rh-based OER electrocatalysts. In particular, the RhRuFe TMs-based water splitting devices can achieve the current density of 10 mA cm-2 at a low voltage of 1.63 V, which is among the best in the Rh-based bifunctional catalysts for electrolyzers. The addition of Fe in RhRuFe TMs can modulate the strain/electron distribution of the multi-alloy, which regulates the binding energies of H* and OH* in hydrogen and oxygen evolution reactions for achieving the enhanced bifunctional OER and HER catalysis is further demonstrated.

12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 41(3): 306-311, 2024 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-38448019

RESUMO

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency (OTCD) and MECP2 duplication syndrome. METHODS: A proband who was admitted to the Neonatal Intensive Care Unit of Gansu Provincial Maternal and Child Health Care Hospital on December 19, 2017 was selected as the study subject. High-throughput sequencing and multiplex ligation-dependent probe amplification (MLPA) were carried out for her pedigree, and short tandem repeat-based linkage analysis and chromosome copy number variation sequencing (CNV-seq) were used for the prenatal diagnosis. RESULTS: The proband, a 3-day-old female, was found to harbor heterozygous deletion of exons 7-9 of the OTC gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PVS1+PM2_Supporting+PP4). The proband was diagnosed with OTCD , which was in keeping with her acute encephalopathy and metabolic abnormalities (manifesting as hyperammonemia, decreased blood citrulline, and increased urine orotic acid). Prenatal diagnosis was carried out for the subsequent pregnancy. The fetus did not harbor the exons 7-9 deletion of the OTC gene, but was found to carry a duplication in Xq28 region (which encompassed the whole region of MECP2 duplication syndrome) and was positive for the SRY sequence. The same duplication was also found in the proband and her mother. Considering the possible existence of X-chromosome inactivation, the proband was diagnosed with two X-linked recessive disorders including OTCD and MECP2 duplication syndrome, and the fetus was determined as a male affected with the MECP2 duplication syndrome. CONCLUSION: Discoveries of the pathogenic variants underlying the OTCD and MECP2 duplication syndrome have enabled clinical intervention, treatment, genetic counseling and prenatal diagnosis for this pedigree.


Assuntos
Carboxil e Carbamoil Transferases , Retardo Mental Ligado ao Cromossomo X , Doença da Deficiência de Ornitina Carbomoiltransferase , Criança , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , China , Variações do Número de Cópias de DNA , Ornitina , Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico , Doença da Deficiência de Ornitina Carbomoiltransferase/genética , Linhagem , Diagnóstico Pré-Natal
13.
Light Sci Appl ; 13(1): 67, 2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38443377

RESUMO

High-performance active terahertz modulators as the indispensable core components are of great importance for the next generation communication technology. However, they currently suffer from the tradeoff between modulation depth and speed. Here, we introduce two-dimensional (2D) tellurium (Te) nanofilms with the unique structure as a new class of optically controlled terahertz modulators and demonstrate their integrated heterojunctions can successfully improve the device performances to the optimal and applicable levels among the existing all-2D broadband modulators. Further photoresponse measurements confirm the significant impact of the stacking order. We first clarify the direction of the substrate-induced electric field through first-principles calculations and uncover the unusual interaction mechanism in the photoexcited carrier dynamics associated with the charge transfer and interlayer exciton recombination. This advances the fundamental and applicative research of Te nanomaterials in high-performance terahertz optoelectronics.

14.
Nat Commun ; 15(1): 2252, 2024 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-38480744

RESUMO

Zero thermal expansion (ZTE) alloys with high mechanical response are crucial for their practical usage. Yet, unifying the ZTE behavior and mechanical response in one material is a grand obstacle, especially in multicomponent ZTE alloys. Herein, we report a near isotropic zero thermal expansion (αl = 1.10 × 10-6 K-1, 260-310 K) in the natural heterogeneous LaFe54Co3.5Si3.35 alloy, which exhibits a super-high toughness of 277.8 ± 14.7 J cm-3. Chemical partition, in the dual-phase structure, assumes the role of not only modulating thermal expansion through magnetic interaction but also enhancing mechanical properties via interface bonding. The comprehensive analysis reveals that the hierarchically synergistic enhancement among lattice, phase interface, and heterogeneous structure is significant for strong toughness. Our findings pave the way to tailor thermal expansion and obtain prominent mechanical properties in multicomponent alloys, which is essential to ultra-stable functional materials.

15.
Materials (Basel) ; 17(5)2024 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-38473461

RESUMO

A facile method for the immobilization of ß-cyclodextrin on polysulfone membranes with the aim of selectively adsorbing low-density lipoprotein (LDL) was established, which is based on the self-assembly of dopamine on the membrane followed by the Schiff base reaction with mono-(6-ethanediamine-6-deoxy)-ß-cyclodextrin. The surface modification processes were validated using X-ray photoelectron spectroscopy and attenuated total reflectance Fourier-transform infrared spectroscopy. Surface wettability and surface charge of the membranes were investigated through the water contact angle and zeta potential analysis. The cyclodextrin-modified polysulfone membrane (PSF-CD) showed good resistance to protein solutions, as shown by the measurement of BSA adsorption. The assessment of BSA adsorption revealed that the cyclodextrin-modified polysulfone membrane (PSF-CD) exhibited excellent resistance to protein solutions. To investigate the adsorption and desorption behaviors of the membranes in single-protein or binary-protein solutions, an enzyme-linked immunosorbent assay was employed. The results revealed that the PSF-CD possessed remarkable adsorption capacity and higher affinity for LDL in both single-protein and binary-protein solutions, rendering it a suitable material for LDL apheresis.

16.
World J Microbiol Biotechnol ; 40(5): 143, 2024 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-38530548

RESUMO

Polystyrene (PS) is frequently used in the plastics industry. However, its structural stability and difficulty to break down lead to an abundance of plastic waste in the environment, resulting in micro-nano plastics (MNPs). As MNPs are severe hazards to both human and environmental health, it is crucial to develop innovative treatment technologies to degrade plastic waste. The biodegradation of plastics by insect gut microorganisms has gained attention as it is environmentally friendly, efficient, and safe. However, our knowledge of the biodegradation of PS is still limited. This review summarizes recent research advances on PS biodegradation by gut microorganisms/enzymes from insect larvae of different species, and schematic pathways of the degradation process are discussed in depth. Additionally, the prospect of using modern biotechnology, such as genetic engineering and systems biology, to identify novel PS-degrading microbes/functional genes/enzymes and to realize new strategies for PS biodegradation is highlighted. Challenges and limitations faced by the application of genetically engineered microorganisms (GEMs) and multiomics technologies in the field of plastic pollution bioremediation are also discussed. This review encourages the further exploration of the biodegradation of PS by insect gut microbes/enzymes, offering a cutting-edge perspective to identify PS biodegradation pathways and create effective biodegradation strategies.


Assuntos
Microbioma Gastrointestinal , Poliestirenos , Animais , Humanos , Poliestirenos/metabolismo , Plásticos , Biodegradação Ambiental , Insetos
17.
Artigo em Inglês | MEDLINE | ID: mdl-38536957

RESUMO

O3-type layered oxide cathodes (NaxTMO2) for sodium-ion batteries (SIBs) have attracted significant attention as one of the most promising potential candidates for practical energy storage applications. The poor Na+ diffusion kinetics is, however, one of the major obstacles to advancing large-scale practical application. Herein, we report bismuth-doped O3-NaNi0.5Mn0.5O2 (NMB) microspheres consisting of unique primary nanoplatelets with the radially oriented {010} active lattice facets. The NMB combines the advantages of the oriented and exposed electrochemical active planes for direct paths of Na+ diffusion, and the thick primary nanoplatelets for less surface parasitic reactions with the electrolyte. Consequently, the NMB cathode exhibits a long-term stability with an excellent capacity retention of 72.5% at 1C after 300 cycles and an enhanced rate capability at a 0.1C to 10C rate (1C = 240 mA g-1). Furthermore, the enhancement is elucidated by the small volume change, thin cathode-electrolyte-interphase (CEI) layer, and rapid Na+ diffusion kinetics. In particular, the radial orientation-based Bi-doping strategy is demonstrated to be effective at boosting electrochemical performance in other layered oxides (such as Bi-doped NaNi0.45Mn0.45Ti0.1O2 and NaNi1/3Fe1/3Mn1/3O2). The results provide a promising strategy of utilizing the advantages of the oriented active facets of primary platelets and secondary particles to develop high-rate layered oxide cathodes for SIBs.

18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 41(2): 129-133, 2024 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-38311548

RESUMO

OBJECTIVE: To explore the genetic basis of eighteen patients with Tetrahydrobiopterin deficiency (BH4D) from Gansu Province. METHODS: Eighteen patients diagnosed with BH4D at Gansu Provincial Maternal and Child Health Care Hospital from January 2018 to December 2021 were selected as the study subjects. Whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing. RESULTS: All of the thirty-six alleles of the eighteen patients were successfully determined by molecular genetic testing. Sixteen patients were found to harbor variants of the PTS gene, and two had harbored variants of the QDPR gene. Ten variants were detected in the PTS gene, with the most common ones being c.259C>T (34.38%) and c.286G>A (15.63%). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.259C>T was classified as a pathogenic variant, whilst the c.286G>A, c.166G>A, c.200C>T, c.272A>G, c.402A>C, c.421G>T, c.84_291A>G and c.317C>T were classified as likely pathogenic variants. A novel c.289_290insCTT variant was classified as likely pathogenic (PM1+PM2_Supporting+PM3+PP3+PP4). The two variants (c.478C>T and c.665C>T) detected in the QDPR gene were both classified as variants of uncertain significance (PM1+PM2_Supporting+PP3+PP4). CONCLUSION: Genetic testing has clarified the pathogenic variants in these BH4D patients, which has enabled timely and accurate clinical intervention and treatment, and provided a reference for genetic counseling and reproductive guidance for their families.


Assuntos
Fenilcetonúrias , Criança , Humanos , Alelos , Fenilcetonúrias/genética , Família , Aconselhamento Genético , Testes Genéticos , Mutação
19.
BMJ Open ; 14(2): e079006, 2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38320838

RESUMO

OBJECTIVES: To quantitatively assess and compare retinal macular structures of rural-dwelling older adults in China using two different optical coherence tomography (OCT) scanners and to examine their associations with demographic, lifestyle, clinical and ocular factors. DESIGN, SETTING AND PARTICIPANTS: This population-based, cross-sectional study included 971 participants (age ≥60 years) derived from the Multimodal Interventions to Delay Dementia and Disability in Rural China study. We collected data on demographics, lifestyle factors, clinical conditions (eg, cardiovascular disease (CVD)) and ocular factors (eg, visual acuity and spherical equivalent). We used two models of spectral-domain OCT to measure macular parameters in nine Early Treatment Diabetic Retinopathy Study subfields. Data were analysed using the multiple general linear models. RESULTS: Spectralis OCT demonstrated higher macular thickness but a lower macular volume than Primus 200 OCT (p<0.05). Nasal quadrant of the inner and outer subfields was the thickest, followed by superior quadrant. Adjusting for multiple potential confounding variables, older age was significantly correlated with lower average inner and outer macular thicknesses and overall macular volume. Men had higher macular parameters than women. The presence of CVD was correlated with lower central macular thickness (ß=-6.83; 95% CI: -13.08 to -0.58; p=0.032). Middle school or above was associated with higher average inner macular thickness (ß=7.85; 95% CI: 1.14 to 14.55; p=0.022) and higher spherical equivalent was correlated with lower average inner macular thickness (ß=-1.78; 95% CI: -3.50 to -0.07; p=0.042). CONCLUSIONS: Macular thickness and volume assessed by Spectralis and Primus 200 OCT scanners differ. Older age and female sex are associated with lower macular thickness and volume. Macular parameters are associated with education, CVD and spherical equivalent. TRIAL REGISTERATION NUMBER: MIND-China study (ChiCTR1800017758).


Assuntos
Retinopatia Diabética , Tomografia de Coerência Óptica , Masculino , Humanos , Feminino , Idoso , Pessoa de Meia-Idade , Estudos Transversais , Tomografia de Coerência Óptica/métodos , Retina/diagnóstico por imagem , Refração Ocular
20.
J Am Chem Soc ; 146(7): 4433-4443, 2024 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-38329948

RESUMO

Potassium-sulfur (K-S) batteries are severely limited by the sluggish kinetics of the solid-phase conversion of K2S3/K2S2 to K2S, the rate-determining and performance-governing step, which urgently requires a cathode with facilitated sulfur accommodation and improved catalytic efficiency. To this end, we leverage the orbital-coupling approach and herein report a strong d-π coupling catalytic configuration of single-atom Co anchored between two alkynyls of graphdiyne (Co-GDY). The d-π orbital coupling of the Co-C4 moiety fully redistributes electrons two-dimensionally across the GDY, and as a result, drastically accelerates the solid-phase K2S3/K2S2 to K2S conversion and enhances the adsorption of sulfur species. Applied as the cathode, the S/Co-GDY delivered a record-high rate performance of 496.0 mAh g-1 at 5 A g-1 in K-S batteries. In situ and ex situ characterizations coupling density functional theory (DFT) calculations rationalize how the strong d-π orbital coupling of Co-C4 configuration promotes the reversible solid-state transformation kinetics of potassium polysulfide for high-performance K-S batteries.

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