ABSTRACT
Objective: To verify the accuracy and effectiveness of Goldengate high-throughput deafness gene chip in detecting the patients with enlarged vestibular aqueduct syndrome(EVAS), and to provide a reference for genetic detection strategy of EVAS. Methods: From August 2016 to February 2018, 15 patients with EVAS and 60 normal controls were detected by Goldengate high-throughput deafness detection chip developed by our team, and the results were verified by Sanger sequencing. SLC26A4 gene sequencing was carried out in all the patients with EVAS. Results: 12/15 of patients with EVAS were detected mutations of SLC26A4 gene. Nine mutations were detected by chip detection and SLC26A4 gene direct sequencing, seven of which were detected by both methods. The chip could detect 93.33%(28/30) of the allele information provided by SLC26A4 gene direct sequencing. In addition to SLC26A4 gene, mutations of GJB2, PCDH15, TMC1, MYO6 and mitochondrial genes were detected in 15 patients with EVAS. These results were verified by Sanger sequencing. Conclusion: Goldengate high-throughput deafness gene chip possesses the traits of wide coverage and high accuracy, which can be used as a preliminary detection method for patients with EVAS.
ABSTRACT
Understanding the photoexcited carrier-relaxation actions in ultrasmall black phosphorus quantum dots (BPQDs) will play a crucial role in the fields of electronics and optoelectronics. Herein, we report the ultraviolet (UV) saturable absorption and ultrafast photoexcited carrier-relaxation dynamics of BPQDs. The ultrasmall BPQDs are synthesized using a facile liquid-exfoliation method and possess a diameter of 3.8 ± 0.6 nm and a thickness of 1.5 ± 0.4 nm. Femtosecond open-aperture (OA) Z-scan measurements showed typical saturable absorption properties in the UV band. A negative nonlinear optical (NLO) absorption coefficient of -(1.4 ± 0.3) × 10-3 cm GW-1 and a saturable intensity of 6.6 ± 1.3 GW cm-2 were determined. Using a degenerate pump-probe technique, an ultrafast photoexcited carrier-recombination time was observed in the range of 216-305 fs, which was 3 orders of magnitude faster than that of BP nanosheets. Such an ultrafast relaxation component may be attributable to the edge- and step-mediated recombination and was confirmed by our density functional theory (DFT) calculations. This work provides fundamental insight into the underlying mechanism of the photoexcited carrier relaxation dynamic action in BPQDs which can enable UV photonic devices.
ABSTRACT
Forty patients with breast mass and 10 female controls underwent double-phase (15 min and 3 h) 99Tcm-sestamibi (MIBI) imaging. Another four post-mastectomy patients with suspected metastases underwent total body imaging at 15 min. The 99Tcm-MIBI images of all 10 female controls showed symmetrical homogeneous radioactivity in both breasts. A focal area of increased 99Tcm-MIBI uptake in the breast tumour is considered as positive. Eleven breasts of 10 patients underwent total mastectomies with lymph node dissection, with one patient having bilateral mastectomy. These 11 breast tumours were confirmed to be infiltrating ductal carcinoma. All 11 breast carcinomas had positive early and delayed phase results with the exception of one patient who had only a focal increased uptake in early phase which happened to be the smallest size of carcinoma. Focal areas of positive MIBI uptake in the axillae in 4 of 10 patients were confirmed to be metastatic carcinoma of the breast. One patient with breast carcinoma underwent mastectomy whose 99Tcm-MIBI imaging was negative. Twelve patients undergoing excisional biopsy or lumpectomy of breast resulted in 7 fibroadenomas, 2 papillomas, 1 abscess, 1 granuloma and 1 chronic inflammation. Four of 7 fibroadenomas having hypercellularity histopathologically exhibited a focal MIBI uptake on double-phase imaging. One granulomatous disease had positive early phase but faded on the delayed image. The patients with absence of MIBI uptake included 3 fibroadenomas, 2 papillomas, 1 abscess, 1 chronic inflammation and 17 fibrous hyperplasia.(ABSTRACT TRUNCATED AT 250 WORDS)
