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Road icing in winter brings challenges to traffic safety, and microwave heating and deicing technology is an effective method with the advantages of high efficiency and environmental protection. Magnetite has been widely used as a microwave-absorbing material in pavement. In this paper, magnetite powder formed by crushing natural magnetite and high-purity Fe3O4 powder after purification were mixed to replace mineral powder, and the magnetite aggregate was used to replace the limestone aggregate with the same particle size to enhance the asphalt mixtures' microwave absorption capacity. The effect of microwave heating time and microwave power on the heating of the asphalt mixtures was studied, and the heating performance of different thicknesses of the asphalt mixtures under microwave radiation was evaluated. The heating performance of the mixtures under different initial temperatures and ice layer thicknesses was also assessed. The results showed that the addition of the magnetite powder-Fe3O4 powder and the magnetite aggregate significantly enhanced the heating performance of the asphalt mixtures by microwave heating. The replacement of the magnetite powder-Fe3O4 powder, the microwave heating time, and the microwave power had positive effects on the heating efficiency of the asphalt mixtures. Moreover, the thinner asphalt mixtures had a better heating performance. The heating and deicing performance of the mixtures decreased with a decline in initial temperature. As the ice thickness increased, the deicing time of the specimen surface to reach 0 °C also increased.
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Microwave deicing technology, as a new environmentally friendly deicing technology, can effectively solve the problem of the frequent icing of road surfaces in the winter, which affects the safety of traffic. To improve the efficiency of microwave deicing on cement concrete pavement, this study proposed the use of magnetite, iron sulfide slag, steel slag, lead-zinc slag, and graphite as microwave-absorbing materials, and conducted microwave deicing tests under the influence of five factors, namely the form of the pavement surface structure, the content of the microwave-absorbing material, microwave power, the shielding state, and dry and wet conditions. Layer by layer, we selected the combination of pavement surface structure, microwave-absorbing material content, microwave power, shielding state, and dry and wet conditions on the bottom surface of the concrete slab with the optimal deicing effect. The results showed that the 2 cm scattered microwave-absorbing surface concrete structure has the fastest heating rate; the higher the magnetite content and microwave power, the higher the deicing efficiency; the maximum heating rate can be increased by 17.6% when the shielding layer is set at the bottom of the cement concrete slab; and the heating rate of the microwave-absorbing concrete slab in the wet state is increased by 20.8% relative to the dry state. In summary, 7000 W of power, a magnetite content of 60 vol % in the scattered microwave-absorbing surface, a shielding layer set at the bottom surface, and wet conditions can greatly improve the efficiency of microwave deicing compared with the microwave ice melting effects of plain cement concrete and other microwave-absorbing materials mixed into the concrete. In addition, the temperature uniformity of the microwave-absorbing materials is essential to improve the deicing efficiency of microwave-absorbing concrete, so it is essential to explore it further.
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Polyimide foams (PIFs) were synthesized using in situ polymerization from poly((phenyl isocyanate)-co-formaldehyde) (PAPI), pyromellitic dianhydride (PMDA), and multi-walled carbon nanotubes (MWCNTs) (0.05, 0.1, 0.2, 0.4, and 0.6 wt%) functionalized with -OH; the diameters were 10-20 nm, 20-30 nm, and >50 nm. The morphology, mechanical properties, and flame retardancy of the composites made from MWCNTs with different contents and diameters were studied. The effects of different contents of MWCNT on the properties of composites were compared. SEM results show that the pore morphology of PIF was not damaged when the content of the MWCNTs was low due to crosslinking between MWCNTs and amide bonds. When the content of the MWCNTs was high, the vacuoles of PIF became large and uneven. Compared to pure PIF, mwCNT-1 (0.2% MWCNT content) significantly increased the compressive strength (330%) and compression modulus (210%) of PI. Due to the significant thermal stability of PIF/MWCNTs, the degradation temperature of PIF/MWCNT-1 (0.2% MWCNT content) was increased from 302 °C to 321.5 °C upon addition of MWCNTs. The effects of different diameters of MWCNTs on the morphology and properties of the PIF/MWCNT composites were also compared. The morphology, thermal stability, and mechanical properties of the composites containing smaller MWCNTs were higher than those of composites containing larger MWCNTs. This is because MWCNTs act as nucleating agents to promote the formation and growth of bubbles. Smaller diameters of MWCNTs lead to higher MWCNT contents in the unit volume and more nucleation points of MWCNTs in the PIF. An increasing MWCNT diameter leads to a gradually decreasing number of bubbling nucleation centers. The LOI of PIF/MWCNTS increased with increasing MWCNT due to the nitrogen heterocyclic interaction between the PIF and MWCNTS. The diameter of MWCNTS had only a minor effect on the flame retardancy.
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Usher syndrome (USH) is a clinically common autosomal recessive disorder characterized by retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction. In this study, we identified a Hunan family of Chinese descent with two affected members clinically diagnosed with Usher syndrome type 3 (USH3) displaying hearing, visual acuity, and olfactory decline. Whole-exome sequencing (WES) identified a nonsense variant in ABHD12 gene that was confirmed to be segregated in this family by Sanger sequencing and exhibited a recessive inheritance pattern. In this family, two patients carried homozygous variant in the ABHD12 (NM_015600: c.249C>G). Mutation of ABHD12, an enzyme that hydrolyzes an endocannabinoid lipid transmitter, caused incomplete PHARC syndrome, as demonstrated in previous reports. Therefore, we also conducted a summary based on variants in ABHD12 in PHARC patients, and in PHARC patients showing that there was no obvious correlation between the genotype and phenotype. We believe that this should be considered during the differential diagnosis of USH. Our findings predicted the potential function of this gene in the development of hearing and vision loss, particularly with regard to impaired signal transmission, and identified a novel nonsense variant to expand the variant spectrum in ABHD12.
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Códon sem Sentido , Monoacilglicerol Lipases/genética , Síndromes de Usher/genética , Adulto , Idoso , Ataxia/genética , Ataxia/patologia , Catarata/genética , Catarata/patologia , Criança , Família , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Homozigoto , Humanos , Masculino , Linhagem , Fenótipo , Polineuropatias/genética , Polineuropatias/patologia , Retinose Pigmentar/genética , Retinose Pigmentar/patologia , Síndromes de Usher/patologia , Sequenciamento do ExomaRESUMO
OBJECTIVE: To evaluate the accuracy and validity of our protocol for prenatal diagnosis and genetic counseling in high-risk families at a clinic. METHODS: Fifteen unrelated families with recessive nonsyndromic hearing loss (NSHL) in their family history and a positive attitude towards prenatal diagnosis were recruited in the present study. According to genetic information for each family, Sanger sequencing, fluorescence polymerase chain reaction (PCR)-based congenital deafness gene detection kit and multiple PCR-based target gene capture and high-throughput sequencing were used. Genetic counseling was offered to all participating families by genetic counselors and otologists. Prenatal diagnosis was provided to families with detected pathogenic mutations and who were expected to participate in subsequent prenatal diagnosis. RESULTS: In this study, confirmed pathogenic mutations were detected in eight families, who were defined as high-risk families. These families all participated in prenatal diagnosis with positive attitudes. One novel variant (c.1687dupA) in the SLC264 gene was detected in a family. Through genetic counseling, the recurrence probability of NSHL in fetuses was 25% in six families, 0% in one family, and 50% in one family. The results of fetal DNA detection showed that one fetal variant was wild type, three were heterozygous mutations in SLC26A4, and one was a compound heterozygous mutation in SLC26A4. Two variants were heterozygous mutations in GJB2, and one was a homozygous mutation in GJB2. According to the test results for fetal DNA, prenatal diagnosis found that six fetuses had normal hearing, whereas two fetuses suffered from NSHL. After birth, six infants predicted to have normal hearing passed a newborn hearing screening test and two infants predicted to have NSHL were diagnosed with NSHL and received cochlear implants. CONCLUSION: Our protocol for prenatal diagnosis and genetic counseling provides detailed information that can assist couples in high-risk families in preparing for infant arrival and future family planning. For the affected neonates, prenatal diagnosis and genetic counseling achieve an "early screening, early diagnosis, early intervention" strategy.
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Surdez/diagnóstico , Aconselhamento Genético/métodos , Diagnóstico Pré-Natal/métodos , Conexinas/genética , Análise Mutacional de DNA , Surdez/genética , Feminino , Audição , Testes Auditivos , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Homozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Linhagem , Reação em Cadeia da Polimerase/métodos , GravidezRESUMO
Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a highly genetically heterogeneous disorder. Up to date only approximately 37 ADNSHL-causing genes have been identified. The goal of this study was to determine the causative gene in a five-generation Chinese family with ADNSHL. A Chinese family was ascertained. Simultaneously, two affected individuals and one normal hearing control from the family were analyzed by whole exome capture sequencing. To assess the functional effect of the identified variant, in-vitro studies were performed. novel missense variant, c.512A>G (p.His171Arg) in exon 8 of the ELMO domain-containing 3 (ELMOD3) gene, was identified as a causative variant in this family affected by late-onset and progressive ADNSHL. The variant was validated by Sanger sequencing and found to co-segregate with the phenotype within the pedigree and was absent in 500 ethnically matched unrelated normal hearing control subjects. To our knowledge, this is the first report of a family with ADNSHL caused by ELMOD3 mutation. Western blots and immunofluorescence staining demonstrated that p.His171Arg resulted in abnormal expression levels of ELMOD3 and abnormal subcellular localization. Furthermore, the analysis of the stability of the wild-type (WT) and mutant ELMOD3 protein shows that the decay of p.His171Arg is faster than that of the WT, suggesting a shorter halflife of the c.512A > G variant. A novel variant in the ELMOD3 gene, encoding a member of the engulfment and cell motility (ELMO) family of GTPase-activating proteins, was identified for the first time as responsible for ADNSHL.
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Proteínas Ativadoras de GTPase/genética , Perda Auditiva Neurossensorial/genética , Adulto , Sequência de Aminoácidos/genética , Movimento Celular/genética , China/epidemiologia , Exoma/genética , Feminino , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Masculino , Mutação , Linhagem , FenótipoRESUMO
X-linked inheritance is very rare and is estimated to account for only 1-5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common variations of three hearing loss-related genes, GJB2, mtDNA12srRNA and SLC26A4, a novel truncated variant of SMPX, c.87dupA (p.Gly30Argfs*12) (NCBI ClinVar Submission ID: SUB3136126), was identified by whole-exome sequencing. This variant was co-segregated with hearing loss in the entire family and was absent in 576 unrelated ethnically and geographically matched controls. We also detected a single nucleotide variation in two male controls with normal hearing, SMPX c.55A>G (p.Asn19Asp), which has been annotated as a rare variant in the Single Nucleotide Polymorphism (dbSNP) (rs759552778) and Exome Aggregation Consortium (ExAC) databases. This study has enriched the mutation spectrum of the SMPX gene.
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Doenças Genéticas Ligadas ao Cromossomo X/genética , Perda Auditiva Neurossensorial/genética , Proteínas Musculares/genética , Mutação , Adulto , Povo Asiático/genética , Estudos de Casos e Controles , China , Bases de Dados Genéticas , Feminino , Perda Auditiva Neurossensorial/etnologia , Humanos , Masculino , Linhagem , Polimorfismo de Nucleotídeo Único , Sequenciamento do Exoma , Adulto JovemRESUMO
N-Substituted aminomethylphenol (Mannich base) and 3,4-dihydro-2H-3-substituted 1,3-benzoxazine (benzoxazine) were synthesized from substituted phenol (p-cresol, phenol, p-chlorophenol), substituted aniline (p-toluidine, aniline, p-chloroaniline) and formaldehyde to study influence of substituent on equilibrium of benzoxazine synthesis from Mannich base and formaldehyde. (1)H-NMR and charges of nitrogen and oxygen atoms illustrate effect of substituent on reactivity of Mannich base, while oxazine ring stability is characterized by differential scanning calorimetry (DSC) and C-O bond order. Equilibrium constants were tested from 50 °C to 80 °C, and the results show that substituent attached to phenol or aniline has same impact on reactivity of Mannich base; however, it has opposite influence on oxazine ring stability and equilibrium constant. Compared with the phenol-aniline system, electron-donating methyl on phenol or aniline increases the charge of nitrogen and oxygen atoms in Mannich base. When the methyl group is located at para position of phenol, oxazine ring stability increases, and the equilibrium constant climbs, whereas when the methyl group is located at the para position of aniline, oxazine ring stability decreases, the benzoxazine hydrolysis tends to happen and equilibrium constant is significantly low.