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Objective To identify the pathogenic variant in a Chinese family with X-linked agammaglobulinemia (XLA). Methods A trio family with suspected X-linked agammaglobulinemia was recruited. The pathogenic variant was detected by the whole exome sequencing, and then confirmed by Sanger sequencing. cDNA sequencing was performed to find the abnormal splicing of the BTK variant. Quantitative real-time PCR was conducted to evaluate the mRNA expression of BTK in the patient. Results A novel hemizygous splicing variant (c.240+3A＞C) was identified in the BTK gene from this patient. The variant co-segregated with the phenotype of the family members was not listed in the public databases, such as dbSNP153,ExAC, gnomAD or the Human Gene Mutation Database. Further Sanger sequencing demonstrated that the BTK c.240+3A＞C variant led to a 106 bp from intron 3 of BTK insertion between exon 3 and exon 4 of the BTK transcript. The mRNA expression of BTK in the patient was significantly reduced as compared to a control individual. Conclusions The novel c.240+3A＞C splicing variant in BTK likely results in X-linked agammaglobulinemia in this family.

Objective To explore a kind of visual evoked potential test equipment and method that is more suitable for the application of forensic clinical visual acuity evaluation. Methods Thirty-four volunteers （68 eyes） were selected, including 15 males and 19 females, aged between 20 and 40 years. Test lenses were placed before the tested eyes of volunteers to induce refractive myopia with insert method, and the diopter lenses were adjusted so that the visual acuity level of one eye of volunteers was above 0.8, and the visual acuity of the other eye was at moderate damage level （

To enhance the working quality of WLEDs, considerable efforts have been made to upgrade the thermal quenching resistance of existing phosphors or design new anti-thermal quenching (ATQ) phosphors. Developing a new phosphate matrix material with special structural features has great importance for the fabrication of ATQ phosphors. By phase relationship and composition analysis, we have prepared a novel compound Ca3.6In3.6(PO4)6 (CIP). Coupling ab initio and Rietveld refinement techniques, the novel structure of CIP with partly vacant cationic positions was solved. Taking this unique compound as the host and using the inequivalent substitution of Dy3+ for Ca2+, a series of C1−xIP:Dy3+ rice-white emitting phosphors were successfully developed. When the temperature was raised to 423 K, the emission intensity of C1−xIP:xDy3+ (x = 0.01, 0.03, and 0.05) increased to 103.8%, 108.2%, and 104.5% of the original intensity at 298 K, respectively. Except for the strong bonding network and inherent cationic vacancy in the lattice, the ATQ property of the C1−xIP:Dy3+ phosphors is mainly attributed to the generation of interstitial oxygen from the substitution of unequal ions, which releases electrons with the thermal stimulus, causing anomalous emission. Finally, we have explored the quantum efficiency of C1−xIP:0.03Dy3+ phosphor and the working performance of PC-WLED prepared with C1−xIP:0.03Dy3+ phosphor and 365 nm chip. The research work sheds light on the relationship between lattice defects and thermal stability, and meanwhile offers a new strategy for the development of ATQ phosphors. [ABSTRACT FROM AUTHOR]

To enhance the working quality of WLEDs, considerable efforts have been made to upgrade the thermal quenching resistance of existing phosphors or design new anti-thermal quenching (ATQ) phosphors. Developing a new phosphate matrix material with special structural features has great importance for the fabrication of ATQ phosphors. By phase relationship and composition analysis, we have prepared a novel compound Ca3.6In3.6(PO4)6 (CIP). Coupling ab initio and Rietveld refinement techniques, the novel structure of CIP with partly vacant cationic positions was solved. Taking this unique compound as the host and using the inequivalent substitution of Dy3+ for Ca2+, a series of C1−xIP:Dy3+ rice-white emitting phosphors were successfully developed. When the temperature was raised to 423 K, the emission intensity of C1−xIP:xDy3+ (x = 0.01, 0.03, and 0.05) increased to 103.8%, 108.2%, and 104.5% of the original intensity at 298 K, respectively. Except for the strong bonding network and inherent cationic vacancy in the lattice, the ATQ property of the C1−xIP:Dy3+ phosphors is mainly attributed to the generation of interstitial oxygen from the substitution of unequal ions, which releases electrons with the thermal stimulus, causing anomalous emission. Finally, we have explored the quantum efficiency of C1−xIP:0.03Dy3+ phosphor and the working performance of PC-WLED prepared with C1−xIP:0.03Dy3+ phosphor and 365 nm chip. The research work sheds light on the relationship between lattice defects and thermal stability, and meanwhile offers a new strategy for the development of ATQ phosphors. [ABSTRACT FROM AUTHOR]

The thermal stability of phosphors, particularly for the red component, is a major factor restricting the quality improvement of PC-WLEDs. Numerous researchers have invested considerable time and effort into developing excellent thermally stable red phosphors. Herein, a synergistic strategy of enhancing symmetry based on homogeneity co-doping was proposed to enhance the luminous performance of phosphors. As a typical application case, using Ca3.6In3.6(PO4)6 as a host, a series of single-doped and co-doped Eu3+, Sm3+ red phosphors were designed and synthesized. In contrast to single-doped phosphors, Eu3+, Sm3+ co-doped phosphors show reinforced UV absorption and improved thermal stability. At room temperature, the fluorescence lifetime of Sm3+ decreases to a certain extent as the Eu3+ concentration increases, indicating the energy transfer from Sm3+ to Eu3+. The co-admixture of Eu3+ and Sm3+ increased crystal local symmetry, which succeeded in triggering the synergy enhancement of thermal stability for Eu3+ or Sm3+ doped phosphors. Moreover, the internal quantum efficiency of Ca3.6In(1−x−y)3.6(PO4)6:0.05Eu3+,0.04Sm3+ phosphor highly reaches 82.8%. A warm white light-emitting diode based on Ca3.6In(1−x−y)3.6(PO4)6:0.05Eu3+,0.04Sm3+ with low CCT (4694 K), high Ra (86.9), and CIE chromaticity coordinate (0.3445, 0.3253) was fabricated. The present results expect that Eu3+, Sm3+ co-activated Ca3.6In3.6(PO4)6 phosphors are suitable for application in high-power LEDs. Most importantly, this study provides new insight into the relationship between local symmetry and thermal stability and offers a creative strategy for developing high-quality phosphors in the future. [ABSTRACT FROM AUTHOR]

The paper analyzed principle of ultrasonic ranging and its main error causes and put forward an error compensation algorithm of ultrasonic ranging based on BP neural network. The algorithm trains samples of given input vector and target vector, and adjusts weights and threshold in process of training constantly, so as to reach a mapping relationship to correct error. The simulation result verified effectiveness of the algorithm.

The influence of sodium alginate and tea tree essential oil composite coating on the quality of fresh-cut Fuji apple from Shandong was studied. The changes of the weight loss rate, hardness, soluble solid content, color difference, ascorbic acid content, total phenol content and antioxidant activity of apples were measured during storage at 4 t after compositely coated with different concentration of tea tree essential oil (0.1%, 0.3% and 0.5% (V/V)) and 1.5% (m/V) sodium alginate. The results indicated that appropriate concentration of tea tree essential oil and sodium alginate composite coating could effectively maintain freshness and hardness of fresh-cut apples, reduce the increase of weight loss rate and the decline of total soluble solid contents, inhibit browning and slow down the decline in vitamin C, total phenolics contents and DPPH - scavenging activity. The fresh-cut apples treated by 1.5% sodium alginate and 0.1% tea tree oil composite coating had the best storage quality among all treatments. The results can provide reference for the further research and application of tea tree essential oil and sodium alginate composite coating on fresh-keeping of fresh-cut fruits. [ABSTRACT FROM AUTHOR]