CFTR Mutation Analysis of a Caucasian Father with Congenital Bilateral Absence of Vas Deferens, a Taiwanese Mother, and Twins Resulting from ICSI Procedure

Cystic fibrosis (CF), caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is one of the most common autosomal recessive diseases in Caucasians. We screened for the CFTR gene mutation in a Caucasian father with congenital bilateral absence of the vas deferens (CBAVD), a Taiwanese mother, and twins resulting from an intracytoplasmic single sperm injection (ICSI) procedure. DNA fragments that showed abnormal banding patterns on temporal temperature gradient gel electrophoresis analysis followed by analysis of DNA sequence was used. The Caucasian father with CBAVD had ΔF508 and p.L375F mutations. The two children were heterozygous for the ΔF508 and p.L375F mutations, respectively. Mutation analysis of the CFTR gene should always be recommended for infertile couples seeking ICSI. The possibility of the children resulting from ICSI being a victim or carrier of CBAVD or CF, especially when the father is Caucasian with CBAVD, should be discussed during genetic counseling

Development of a short and universal learning self-efficacy scale for clinical skills

Background Learning self-efficacy, defined as learners’ confidence in their capability to learn specific subjects, is crucial for the enhancement of academic progress, because it is positively correlated with academic achievements and effective learning strategy use. In this study, we developed a universal scale called the Learning Self-Efficacy Scale (L-SES) for Clinical Skills for undergraduate medical students and validated it through item analysis and content validity index (CVI) calculation. Design The L-SES was developed based on the framework of Bloom’s taxonomy, and the questions were generated through expert consensus and CVI calculation. A pilot version of the L-SES was administered to 235 medical students attending a basic clinical skills course. The collected data were then examined through item analysis. Results The first draft of the L-SES comprised 15 questions. After expert consensus and CVI calculation, 3 questions were eliminated; hence, the pilot version comprised 12 questions. The CVI values of the 12 questions were between .88 and 1, indicating high content validity. Moreover, the item analysis indicated that the quality of L-SES reached the qualified threshold. The results showed that the L-SES scores were unaffected by gender (t = −0.049; 95% confidence interval [−.115, .109], p > .05). Conclusion The L-SES is a short, well-developed scale that can serve as a generic assessment tool for measuring medical students’ learning self-efficacy for clinical skills. Moreover, the L-SES is unaffected by gender differences. However, additional analyses in relevant educational settings are needed

Movement Protein Pns6 of Rice dwarf phytoreovirus Has Both ATPase and RNA Binding Activities

Cell-to-cell movement is essential for plant viruses to systemically infect host plants. Plant viruses encode movement proteins (MP) to facilitate such movement. Unlike the well-characterized MPs of DNA viruses and single-stranded RNA (ssRNA) viruses, knowledge of the functional mechanisms of MPs encoded by double-stranded RNA (dsRNA) viruses is very limited. In particular, many studied MPs of DNA and ssRNA viruses bind non-specifically ssRNAs, leading to models in which ribonucleoprotein complexes (RNPs) move from cell to cell. Thus, it will be of special interest to determine whether MPs of dsRNA viruses interact with genomic dsRNAs or their derivative sRNAs. To this end, we studied the biochemical functions of MP Pns6 of Rice dwarf phytoreovirus (RDV), a member of Phytoreovirus that contains a 12-segmented dsRNA genome. We report here that Pns6 binds both dsRNAs and ssRNAs. Intriguingly, Pns6 exhibits non-sequence specificity for dsRNA but shows preference for ssRNA sequences derived from the conserved genomic 5′- and 3′- terminal consensus sequences of RDV. Furthermore, Pns6 exhibits magnesium-dependent ATPase activities. Mutagenesis identified the RNA binding and ATPase activity sites of Pns6 at the N- and C-termini, respectively. Our results uncovered the novel property of a viral MP in differentially recognizing dsRNA and ssRNA and establish a biochemical basis to enable further studies on the mechanisms of dsRNA viral MP functions

Learned Smartphone ISP on Mobile GPUs with Deep Learning, Mobile AI & AIM 2022 Challenge: Report

The role of mobile cameras increased dramatically over the past few years, leading to more and more research in automatic image quality enhancement and RAW photo processing. In this Mobile AI challenge, the target was to develop an efficient end-to-end AI-based image signal processing (ISP) pipeline replacing the standard mobile ISPs that can run on modern smartphone GPUs using TensorFlow Lite. The participants were provided with a large-scale Fujifilm UltraISP dataset consisting of thousands of paired photos captured with a normal mobile camera sensor and a professional 102MP medium-format FujiFilm GFX100 camera. The runtime of the resulting models was evaluated on the Snapdragon's 8 Gen 1 GPU that provides excellent acceleration results for the majority of common deep learning ops. The proposed solutions are compatible with all recent mobile GPUs, being able to process Full HD photos in less than 20-50 milliseconds while achieving high fidelity results. A detailed description of all models developed in this challenge is provided in this paper

A new multivariate empirical mode decomposition method for improving the performance of SSVEP-based brain–computer interface

Objective: Accurate and efficient detection of steady-state visual evoked potentials (SSVEP) in electroencephalogram (EEG) is essential for the related brain–computer interface (BCI) applications. Approach: Although the canonical correlation analysis (CCA) has been applied extensively and successfully to SSVEP recognition, the spontaneous EEG activities and artifacts that often occur during data recording can deteriorate the recognition performance. Therefore, it is meaningful to extract a few frequency sub-bands of interest to avoid or reduce the influence of unrelated brain activity and artifacts. This paper presents an improved method to detect the frequency component associated with SSVEP using multivariate empirical mode decomposition (MEMD) and CCA (MEMD-CCA). EEG signals from nine healthy volunteers were recorded to evaluate the performance of the proposed method for SSVEP recognition. Main results: We compared our method with CCA and temporally local multivariate synchronization index (TMSI). The results suggest that the MEMD-CCA achieved significantly higher accuracy in contrast to standard CCA and TMSI. It gave the improvements of 1.34%, 3.11%, 3.33%, 10.45%, 15.78%, 18.45%, 15.00% and 14.22% on average over CCA at time windows from 0.5 s to 5 s and 0.55%, 1.56%, 7.78%, 14.67%, 13.67%, 7.33% and 7.78% over TMSI from 0.75 s to 5 s. The method outperformed the filter-based decomposition (FB), empirical mode decomposition (EMD) and wavelet decomposition (WT) based CCA for SSVEP recognition. Significance: The results demonstrate the ability of our proposed MEMD-CCA to improve the performance of SSVEP-based BCI

Etoposide Induces ATM-Dependent Mitochondrial Biogenesis through AMPK Activation

DNA damage such as double-stranded DNA breaks (DSBs) has been reported to stimulate mitochondrial biogenesis. However, the underlying mechanism is poorly understood. The major player in response to DSBs is ATM (ataxia telangiectasia mutated). Upon sensing DSBs, ATM is activated through autophosphorylation and phosphorylates a number of substrates for DNA repair, cell cycle regulation and apoptosis. ATM has been reported to phosphorylate the alpha subunit of AMP-activated protein kinase (AMPK), which senses AMP/ATP ratio in cells, and can be activated by upstream kinases. Here we provide evidence for a novel role of ATM in mitochondrial biogenesis through AMPK activation in response to etoposide-induced DNA damage.Three pairs of human ATM+ and ATM- cells were employed. Cells treated with etoposide exhibited an ATM-dependent increase in mitochondrial mass as measured by 10-N-Nonyl-Acridine Orange and MitoTracker Green FM staining, as well as an increase in mitochondrial DNA content. In addition, the expression of several known mitochondrial biogenesis regulators such as the major mitochondrial transcription factor NRF-1, PGC-1alpha and TFAM was also elevated in response to etoposide treatment as monitored by RT-PCR. Three pieces of evidence suggest that etoposide-induced mitochondrial biogenesis is due to ATM-dependent activation of AMPK. First, etoposide induced ATM-dependent phosphorylation of AMPK alpha subunit at Thr172, indicative of AMPK activation. Second, inhibition of AMPK blocked etoposide-induced mitochondrial biogenesis. Third, activation of AMPK by AICAR (an AMP analogue) stimulated mitochondrial biogenesis in an ATM-dependent manner, suggesting that ATM may be an upstream kinase of AMPK in the mitochondrial biogenesis pathway.These results suggest that activation of ATM by etoposide can lead to mitochondrial biogenesis through AMPK activation. We propose that ATM-dependent mitochondrial biogenesis may play a role in DNA damage response and ROS regulation, and that defect in ATM-dependent mitochondrial biogenesis could contribute to the manifestations of A-T disease

Magnetic Iron Oxide Nanoparticles: Synthesis and Surface Functionalization Strategies

Surface functionalized magnetic iron oxide nanoparticles (NPs) are a kind of novel functional materials, which have been widely used in the biotechnology and catalysis. This review focuses on the recent development and various strategies in preparation, structure, and magnetic properties of naked and surface functionalized iron oxide NPs and their corresponding application briefly. In order to implement the practical application, the particles must have combined properties of high magnetic saturation, stability, biocompatibility, and interactive functions at the surface. Moreover, the surface of iron oxide NPs could be modified by organic materials or inorganic materials, such as polymers, biomolecules, silica, metals, etc. The problems and major challenges, along with the directions for the synthesis and surface functionalization of iron oxide NPs, are considered. Finally, some future trends and prospective in these research areas are also discussed

Robust estimation of bacterial cell count from optical density

Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals <1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data

Large expert-curated database for benchmarking document similarity detection in biomedical literature search

Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical research.Peer reviewe