To explore the genetic etiology of a fetus with cryptophthalmos detected by prenatal ultrasonography.
A fetus undergoing induced labor at 32nd gestational week due to absence of bilateral eye ...fissures detected by prenatal ultrasonography in January 2017 was selected as the study subject. Umbilical cord blood sample from the fetus and peripheral blood samples from its parents were collected for the extraction of genomic DNA. Pathogenic variants were screened through whole exome sequencing (WES) and verified by Sanger sequencing. Pathogenicity of candidate variants was verified by bioinformatic analysis and protein structure simulation. Based on the results of genetic testing, prenatal diagnosis was provided to the couple upon their subsequent pregnancy.
The couple had four adverse pregnancies previously. The aborted fetus was the fifth, with fused bilateral upper and lower eyelids, poorly developed eyeballs, adhesion of the cornea with the upper eyelid, low-set ears, and abnormal plantar creases, and was diagn
► We propose parylene C coating serves as surface anti-adhesion layer in PDMS double casting technique. ► Microstructure copies with different aspect ratios and sharp angles can be fabricated from ...master by using this new method. ► This new method is environment friendly. ► A single coating of parylene C can keep anti-adhesive property on its substrate for long lifetime regardless of the number of replica molding cycles.
As a simple method to fabricate a high quality copy of master, PDMS double casting technique has been more and more popular in microfluidics chips and bioMEMS application. In this work, the method in which conformal coating of parylene C serves as a demolding anti-adhesion layer in PDMS double casting technique was proposed. First casting was carried out onto master mold to generate negative PDMS mold and second casting was done onto negative PDMS mold likewise to generate positive PDMS replica with the same structure as master mold. Microstructures with aspect ratio from 4:1 to 20:1 and sharp angle from 5° to 40° were successfully obtained by using this new method. Experiments show replicas remain high fidelity to their masters. This new method of surface anti-adhesive treatment is environment friendly. Moreover, a single coating of parylene C can make the treated mold keep its anti-adhesive property for long lifecycle regardless of the number of replica molding cycles.
Alzheimer’s disease (AD) is accompanied by β-amyloid (Aβ), neurofibrillary tangles, and neuron cell death, and is one of the most commonly occurring diseases among the elderly. The pathology of AD is ...complex, involving Aβ overproduction and accumulation, tau hyperphosphorylation, and neuronal loss. In addition, chronic cerebral hypoperfusion (CCH) is ubiquitous in the AD patients and plans a pivotal role in triggering and exacerbating the pathophysiological progress of AD. The goal of this study was to investigate the neuroprotective properties of berberine (BBR) and the underlying mechanism. During the study, BBR was administrated to treat the triple-transgenic mouse model of Alzheimer’s disease (3×Tg AD). To thoroughly evaluate the effects of the BBR administration, multiple manners were utilized, for instance, 3D arterial spin labeling technique, Morris water maze assay, immunofluorescence staining, TUNEL assay, laser speckle contrast imaging, western blotting, etc. The results showed that BBR ameliorated cognitive deficits in 3×Tg AD mice, reduced the Aβ accumulation, inhibited the apoptosis of neurons, promoted the formation of microvessels in the mouse brain by enhancing brain CD31, VEGF, N-cadherin, Ang-1. The new vessels promoted by BBR were observed to have a complete structure and perfect function, which in turn promoted the recovery of cerebral blood flow (CBF). In general, berberine is effective to 3×Tg AD mice, has a neuroprotective effect, and is a candidate drug for the multi-target prevention and treatment of AD.
In this paper, we propose and experimentally demonstrate HyperSight, which is a precise image decoding algorithm for the mobile-phone camera based visible light communication (VLC) system. The ...conventional algorithms have to select an appropriate column matrix, and then decode the image according to the fitting curve. The selection of the column matrix and the fitting of the function are not only time-consuming but also error-prone, leading to low decoding efficiency and high bit error rate (BER). While HyperSight calculates characteristic grayscale matrix to avoid column matrix selection and uses critical grayscale to replace the function fitting to decode the image. As expected, our algorithm not only reduces the BER, but also improves the processing performance. The experimental results show that, the BER can be reduced by two orders of magnitude on average compared with the conventional scheme. For the <inline-formula><tex-math notation="LaTeX">4.8\,</tex-math></inline-formula>kbps data rate, our algorithm can achieve the transmission distance of <inline-formula><tex-math notation="LaTeX">50\,</tex-math></inline-formula>cm under the <inline-formula><tex-math notation="LaTeX">7\%</tex-math></inline-formula> forward error correction (FEC) threshold with the low illuminance of <inline-formula><tex-math notation="LaTeX">702\,</tex-math></inline-formula>lux.
In this work, a bidirectional grating coupler for perfectly vertical coupling is proposed. The coupling efficiency is enhanced using a silicon nitride (Si3N4) layer above a uniform grating. In the ...presence of Si3N4 layer, the back-reflected optical power into the fiber is diminished and coupling into the waveguide is increased. Genetic algorithm (GA) is used to optimize the grating and Si3N4 layer simultaneously. The optimal design obtained from GA shows that the average in-plane coupling efficiency is enhanced from about 57.5% (−2.5 dB) to 68.5% (−1.65 dB), meanwhile the average back-reflection in the C band is reduced from 17.6% (−7.5 dB) to 7.4% (−11.3 dB). With the help of a backside metal mirror, the average coupling efficiency and peak coupling efficiency are further increased to 87% (−0.6 dB) and 89.4% (−0.49 dB). The minimum feature size of the designed device is 266 nm, which makes our design easy to fabricate through 193 nm deep-UV lithography and lowers the fabrication cost. In addition, the coupler proposed here shows a wide-band character with a 1-dB bandwidth of 64 nm and 3-dB bandwidth of 96 nm. Such a grating coupler design can provide an efficient and cost-effective solution for vertical fiber-to-chip optical coupling of a Wavelength Division Multiplexing (WDM) application.
In this article, a novel method for constructing a pre-equalizer by optimized filter synthesis with vector fitting is proposed to broaden the bandwidth of a visible light communication (VLC) system. ...By using the proposed method, an active-passive hybrid equalization circuit is constructed, and it is demonstrated that the 3-dB bandwidth of the VLC system with commercially available phosphorescent white LED is extended from 30 MHz to 600 MHz. A 1.35 Gb/s NRZ-OOK VLC transmission over 12 cm free space transmission distance is experimentally realized, achieving a bit error rate (BER) of <inline-formula><tex-math notation="LaTeX">\text{8.8} \times \text{10}^{-\text{5}}</tex-math></inline-formula>. To the best of the authors knowledge, this is the largest reported 3-dB bandwidth and real-time data rate achieved in the VLC system with a single commercially phosphorescent white LED.
ObjectivesQuantitative faecal immunochemical tests (FITs) are widely used for colorectal cancer (CRC) screening in the Western countries, whereas qualitative FITs are preferred in China. The present ...study aimed to compare the screening yield between one-sample quantitative FIT and two-sample qualitative FIT for CRC screening.DesignA cross-sectional study.SettingA population-based CRC screening programme was conducted in 28 communities in Haining City, Zhejiang Province, China.ParticipantsConsecutive participants aged 40–74 years were invited to undergo the CRC screening programme. Two-sample qualitative FITs were offered between January 2019 and December 2019, and one-sample quantitative FIT was offered between August 2019 and February 2020.Primary and secondary outcome measuresPrimary outcomes were detection rates of advanced neoplasms, including CRCs and advanced adenomas. Secondary outcomes were positivity rates and colonoscopy resource demand for the two FITs. The positivity thresholds were 20 µg and 1–5 µg haemoglobin per gram of faeces for the quantitative and qualitative FITs, respectively.ResultsA total of 19 131 and 28 804 invitees were assigned to the two-sample qualitative and one-sample quantitative groups, respectively. Positivity rates were 14.2% for the two-sample qualitative FIT and 5.4% for the one-sample quantitative FIT. Detection rates of advanced colorectal neoplasms at colonoscopy using one-sample quantitative FIT and two-sample qualitative FIT were 17.6% (95% CI: 14.6% to 20.6%) and 10.5% (95% CI: 8.7% to 12.4%), respectively. Both detection rates of cancer and advanced adenoma were higher in the one-sample quantitative FIT group than those in the two-sample qualitative FIT group. Moreover, one-sample quantitative FIT significantly reduced the colonoscopy load for detection of one advanced neoplasm case (5, 95% CI: 5 to 7) than the two-sample qualitative FIT (10, 95% CI: 8 to 11).ConclusionsThe one-sample quantitative FIT for CRC screening increases the detection rate of advanced neoplasia and reduces the colonoscopy workload compared with the two-sample qualitative FIT.
Graphene GaN-based Schottky ultraviolet detectors are fabricated. The monolayer graphene is grown by chemical vapor deposition. The graphene is much more transparent than metals, as confirmed by the ...fact that our devices retain their high responsivity up to 360-nm wavelength (corresponding to the band edge absorption of GaN). Importantly, by virtue of the tunable work function of graphene, the graphene GaN Schottky barrier height can be greatly enlarged. The built-in field is enhanced, and the detector performance is improved. The current ratio with and without luminescence is up to 1.6 × 10 4 . The characteristic time constants of the devices are in the order of a few milliseconds. The device open-circuit voltage and short-circuit current are also increased. At last, special type Schottky devices consisting of GaN nanorods or surface-etched GaN are prepared for complementary study. It is found although the dry etching induced surface defects lead to an increase in the dark current, and these carrier traps also greatly contribute to the photoconductivity under luminescence, resulting in extraordinarily large responsivity (up to 360 A/W at -6 V).
Non-intrusive load monitoring is a new type of load monitoring technology, which saves a lot of installation costs of monitoring and sensing equipment. In this paper a non-invasive load monitoring ...system for the edge computing framework is designed, which includes five parts: data acquisition, data preprocessing, event detection, feature extraction and load decomposition. The data acquisition is realized by the smart meter, using STM32 embedded controller to communicate with the server through WIFI. Based on the instantaneous peak value and instantaneous change of power data aimed at different types of load equipment, the load event detection algorithm is studied. The effective detection of switch and state change of load equipment is realized. Then, the harmonic wavelet transform is used to decompose the power data of different charge devices. The experimental platform is built, and the separate operation and mixed operation experiments of different types of load equipment are carried out. The results shown that the non-invasive power monitoring algorithm is effective. On the basis of distinguishing the operating states of different load equipment, the power data from an electric heater, an hair drier and an electric drill can be decomposed, which provides a basis for the realization of non-invasive load monitoring.
Ultrasound is an important modality for breast cancer screening. However, the evidence on the effectiveness of ultrasound screening in population-based cancer screening program in lacking. We aimed ...to evaluate the diagnostic yield of ultrasound screening in a population-based breast cancer screening in China.
The analyses were conducted in the context of the Cancer Screening Program in Urban China, which recruited 1,938,996 eligible participants aged 40-69 years from 16 provinces in China from 2012 to 2016. We included 72,250 women assessed to be high-risk for breast cancer who undertook ultrasound screening per study protocol. Diagnostic yield according to the Breast Imaging Reporting and Data System (BI-RADS) was evaluated. Risk factors associated with the positive findings of ultrasound were also explored by univariate and multivariable logistic regression analyses.
Overall, there were 9,765 (13.51%) women had positive findings of ultrasound screening, including 8,487 (11.75%), 1,210 (1.67%), and 68 (0.09%) of BI-RADS categories of III, IV, and V, respectively. Younger ages, late age of 1st live birth and short-term breast feeding were found to be positively associated with positive findings under ultrasound in multivariate analyses stratified by menopause status and family history of breast cancer. Multivariable prediction models were constructed and yielded only modest prediction accuracy, with AUCs around 0.55.
We found the diagnostic yield of ultrasound screening for breast cancer in high-risk population was satisfactory. Prediction models based on environmental risk factors had limited prediction accuracy and need to be improved in the future.
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