Among the methods for detecting stator inter-turn faults, the techniques that use the harmonic characteristics have been researched in induction motors with distributed windings. However, it is ...questionable that the techniques are available to apply in permanent magnet machines with concentrated windings and different control methods. First of all, this study analyzes the harmonic components of line current in a brushless dc (BLDC) motor, including the issues such as supply imbalance and inherent structural asymmetry, through the developed finite-element analysis and experiment under different operating conditions. As a result, the third harmonic in negative frequency (-3f) is suitable as a fault detector because it is free from those issues. Finally, in BLDC motors with 120° conduction in a six-step operation, the faults can be detected by determining whether or not the third harmonics exist at the incipient state.
Next‐generation sequencing (NGS) facilitates comprehensive molecular analyses that help with diagnosing unsolved disorders. In addition to detecting single‐nucleotide variations and small ...insertions/deletions, bioinformatics tools can identify copy number variations (CNVs) in NGS data, which improves the diagnostic yield. However, due to the possibility of false positives, subsequent confirmation tests are generally performed. Here, we introduce Copy‐number Analysis by BAse‐level NormAlization (CABANA), a visualization tool that allows users to intuitively identify candidate CNVs using the normalized single‐base‐level read depth calculated from NGS data. To demonstrate how CABANA works, NGS data were obtained from 474 patients with neuromuscular disorders. CNVs were screened using a conventional bioinformatics tool, ExomeDepth, and then we normalized and visualized those data at the single‐base level using CABANA, followed by manual inspection by geneticists to filter out false positives and determine candidate CNVs. In doing so, we identified 31 candidate CNVs (7%) in 474 patients and subsequently confirmed all of them to be true using multiplex ligation‐dependent probe amplification. The performance of CABANA was deemed acceptable by comparing its diagnostic yield with previous data about neuromuscular disorders. Despite some limitations, we expect CABANA to help researchers accurately identify CNVs and reduce the need for subsequent confirmation testing.
The outbreak of coronavirus disease 2019 (COVID-19), which began in December 2019, is still ongoing in Korea, with >9,000 confirmed cases as of March 25, 2020. COVID-19 is a severe acute respiratory ...syndrome Coronavirus 2 (SARS-CoV-2) infection, and real-time reverse transcription-PCR is currently the most reliable diagnostic method for COVID-19 around the world. Korean Society for Laboratory Medicine and the Korea Centers for Disease Prevention and Control propose guidelines for diagnosing COVID-19 in clinical laboratories in Korea. These guidelines are based on other related domestic and international guidelines, as well as expert opinions and include the selection of test subjects, selection of specimens, diagnostic methods, interpretation of test results, and biosafety.
Objective
We aimed to identify common genes and recurrent causative variants in a large group of Asian patients with different epilepsy syndromes and subgroups.
Methods
Patients with unexplained ...pediatric‐onset epilepsy were identified from the in‐house Severance Neurodevelopmental Disorders and Epilepsy Database. All patients underwent either exome sequencing or multigene panels from January 2017 to December 2019, at Severance Children's Hospital in Korea. Clinical data were extracted from the medical records.
Results
Of the 957 patients studied, 947 (99.0%) were Korean and 570 were male (59.6%). The median age at testing was 4.91 years (interquartile range, 1.53–9.39). The overall diagnostic yield was 32.4% (310/957). Clinical exome sequencing yielded a diagnostic rate of 36.9% (134/363), whereas the epilepsy panel yielded a diagnostic rate of 29.9% (170/569). Diagnostic yield differed across epilepsy syndromes. It was high in Dravet syndrome (87.2%, 41/47) and early infantile developmental epileptic encephalopathy (60.7%, 17/28), but low in West syndrome (21.8%, 34/156) and myoclonic‐atonic epilepsy (4.8%, 1/21). The most frequently implicated genes were SCN1A (n = 49), STXBP1 (n = 15), SCN2A (n = 14), KCNQ2 (n = 13), CDKL5 (n = 11), CHD2 (n = 9), SLC2A1 (n = 9), PCDH19 (n = 8), MECP2 (n = 6), SCN8A (n = 6), and PRRT2 (n = 5). The recurrent genetic abnormalities included 15q11.2 deletion/duplication (n = 9), Xq28 duplication (n = 5), PRRT2 deletion (n = 4), MECP2 duplication (n = 3), SCN1A, c.2556+3A>T (n = 3), and 2q24.3 deletion (n = 3).
Significance
Here we present the results of a large‐scale study conducted in East Asia, where we identified several common genes and recurrent variants that varied depending on specific epilepsy syndromes. The overall genetic landscape of the Asian population aligns with findings from other populations of varying ethnicities.
Condition monitoring of the stator and rotor problems such as interturn short fault (ITSF) and partial irreversible demagnetization fault (PIDF) in an interior permanent magnet synchronous motor ...(IPMSM) is essential for achieving high efficiency and reliability. This article presents a torque angle-based inverter-embedded technique for the online detection and identification of ITSF and PIDF. This technique monitors the deviation in the torque angle caused due to ITSF and PIDF at a certain operating point. In steady-state operation, the torque angle decreases from its original value (healthy state) due to ITSF while increases in the case of PIDF. This particular trend of torque angle is used for the detection and identification of ITSF and PIDF. In this article, the torque angle for a healthy IPMSM is first obtained using multivariate regression analysis over the entire operating region and then compared with the torque angle during operation for any potential variation. The proposed method is verified using a finite-element method-based simulation and experiment on a 400-W IPMSM. The results suggest that the proposed method can be a viable candidate for efficient ITSF and PIDF detection and identification in real time.
This study demonstrates an organic electrolyte-based rechargeable zinc-ion battery (ZIB) using Prussian blue (PB) analogue potassium nickel hexacyanoferrate K0.86NiFe(CN)60.954(H2O)0.766 (KNF-086) as ...the cathode material. KNF-086 is prepared via electrochemical extraction of potassium ions from K1.51NiFe(CN)60.954(H2O)0.766 (KNF-151). The cell is composed of a KNF-086 cathode, a zinc metal anode, and a 0.5 M Zn(ClO4)2 acetonitrile electrolyte. This cell shows a reversible discharge capacity of 55.6 mAh g−1 at 0.2 C rate with the discharge voltage at 1.19 V (vs. Zn2+/Zn). As evidenced by Fourier electron density analysis with powder XRD data, the zinc-inserted phase is confirmed as Zn0.32K0.86NiFe(CN)60.954(H2O)0.766 (ZKNF-086), and the position of the zinc ion in ZKNF-086 is revealed as the center of the large interstitial cavities of the cubic PB. Compared to KNF-086, ZKNF-086 exhibits a decreased unit cell parameter (0.9%) and volume (2.8%) while the interatomic distance of d(Fe-C) increased (from 1.84 to 1.98 Å), and the oxidation state of iron decreases from 3 to 2.23. The organic electrolyte system provides higher zinc cycling efficiency (>99.9%) than the aqueous system (ca. 80%). This result demonstrates an organic electrolyte-based ZIB, and offers a crucial basis for understanding the electrochemical intercalation chemistry of zinc ions in organic electrolytes.
A reversible zinc-ion battery system in organic electrolyte was characterized using the cubic Prussian blue (PB) analog K0.86NiFe(CN)60.954(H2O)0.766 as the cathode. The organic electrolyte system provides a much higher zinc cycling efficiency (>99.9%) than conventional aqueous systems (<80%). The inserted zinc ions in the cathode were located at the center of the large interstitial cavity, as confirmed by Fourier electron density analysis. Display omitted
•The zinc-ion battery system was demonstrated with an organic electrolyte.•The organic electrolyte provides higher zinc cycling efficiency than aqueous one.•The structure of zinc-inserted phase was confirmed with Rietveld refinement.•The zinc ion positions were determined using Fourier electron-density analysis.
Sequence alterations in microsatellites and an elevated mutational burden are observed in 20% of gastric cancers and associated with clinical response to anti-PD-1 antibodies. However, 50% of ...microsatellite instability-high (MSI-H) cancers are intrinsically resistant to PD-1 therapies. We conducted a phase II trial of pembrolizumab in patients with advanced MSI-H gastric cancer and included serial and multi-region tissue samples in addition to serial peripheral blood analyses. The number of whole-exome sequencing (WES)-derived nonsynonymous mutations correlated with antitumor activity and prolonged progression-free survival (PFS). Coupling WES to single-cell RNA sequencing, we identified dynamic tumor evolution with greater on-treatment collapse of mutational architecture in responders. Diverse T-cell receptor repertoire was associated with longer PFS to pembrolizumab. In addition, an increase in PD-1
CD8
T cells correlated with durable clinical benefit. Our findings highlight the genomic, immunologic, and clinical outcome heterogeneity within MSI-H gastric cancer and may inform development of strategies to enhance responsiveness. SIGNIFICANCE: This study highlights response heterogeneity within MSI-H gastric cancer treated with pembrolizumab monotherapy and underscores the potential for extended baseline and early on-treatment biomarker analyses to identify responders. The observed markers of intrinsic resistance have implications for patient stratification to inform novel combinations among patients with intrinsically resistant features.
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Most patients diagnosed with clear cell renal cell carcinoma (ccRCC) are also detected with small and organ-confined tumors, and the majority of these are classified as clinical tumor stage 1a ...(cT1a). A considerable proportion of patients with cT1 RCC shows tumor upstaging to pathological stage 3a (pT3a), and these patients have worse oncological outcomes. The role of circulating tumor DNA (ctDNA) in RCC has been limited to monitoring treatment response and resistance. Therefore, the present study aimed to evaluate the potential of ctDNA in predicting pT3a upstaging in cT1a ccRCC. We sequenced plasma samples preoperatively collected from 48 patients who had undergone partial nephrectomy for cT1a ccRCC using data from a prospective cohort RCC. The ctDNA were profiled and compared with clinicopathological ccRCC features to predict pT3a upstaging. Associations between ctDNA, tumor complexity, and pT3a upstaging were evaluated. Tumor complexity was assessed using the anatomical classification system. Univariate analysis used chi-squared and Student's t-tests; multivariate analysis considered significant factors from univariate analyses. Of the 48 patients with cT1a ccRCC, 12 (25%) were upstaged to pT3a, with ctDNA detected in 10 (20.8%), predominantly in patients with renal sinus fat invasion (SFI; n = 8). Among the pT3a group, ctDNA was detected in 75%, contrasting with only 2.8% in patients with pT1a (1/36). Detection of ctDNA was the only significant preoperative predictor of pT3a upstaging, especially in SFI. This study is the first to suggest ctDNA as a preoperative predictor of pT3a RCC upstaging from cT1a based on preoperative radiological images.
The epigenetic landscape of cancer includes both focal hypermethylation and broader hypomethylation in a genome-wide manner. By means of a comprehensive genomic analysis on 6637 tissues of 21 tumor ...types, we here show that the degrees of overall methylation in CpG island (CGI) and demethylation in intergenic regions, defined as 'backbone', largely vary among different tumors. Depending on tumor type, both CGI methylation and backbone demethylation are often associated with clinical, epidemiological and biological features such as age, sex, smoking history, anatomic location, histological type and grade, stage, molecular subtype and biological pathways. We found connections between CGI methylation and hypermutability, microsatellite instability, IDH1 mutation, 19p gain and polycomb features, and backbone demethylation with chromosomal instability, NSD1 and TP53 mutations, 5q and 19p loss and long repressive domains. These broad epigenetic patterns add a new dimension to our understanding of tumor biology and its clinical implications.
•A CytoScan XON assay was developed to assess exon-level CNVs.•The assay detected 15 out of 23 small exon-level CNVs identified by NGS.•Three of the undetected exon level CNVs were false positives in ...the NGS results.•The assay could not detect the three exon-level CNVs in PKD1 and TSC2.•The assay is a promising complementary tool for the detection of exon-level CNVs.
Next-generation sequencing (NGS)-based copy number variants (CNVs) have high false-positive rates. The fewer the exons involved, the higher the false-positive rate. A CytoScan XON assay was developed to assess exon-level CNVs.
Twenty-three clinically relevant exon-level CNVs in 20 patient blood samples found in previous NGS studies were compared with the results from the CytoScan XON and multiplex ligation-dependent probe amplification (MLPA).
Fifteen of the 23 exon-level CNVs were consistent with the NGS results. Among these, eight were confirmed using MLPA. In six out of eight discrepancies between the CytoScan Xon and NGS, MLPA was performed, and three were negative, indicating that the CNVs in NGS were false positives. The CytoScan XON exhibits a sensitivity of 72.7% for small exon-level CNVs, along with a specificity of 100%. The assay could not detect the three exon-level CNVs in PKD1 and TSC2 that were detected using both NGS and MLPA. This could be due to the distribution of the probes in some areas, and the CNV-calling regions containing multiple exons.
The CytoScan XON assay is a promising complementary tool for the detection of exon-level CNVs, provided that the users carefully examine the distribution of probes and calling regions.
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