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Terahertz Spectral Characteristics of Electrolyte Solutions under Different Magnetic Fields
Siyu Shao,Haiyun Huang,Bo Peng,Guoyang Wang,Ping Ye,Jiahui Wang,Bo Su,Hailin Cui,Cunlin Zhang 한국광학회 2022 Current Optics and Photonics Vol.6 No.3
Microfluidic chips are new devices that can manipulate liquids at the micrometer level, and terahertz (THz) time-domain spectroscopy has good applicability in biochemical detection. The combination of these two technologies can shorten the distance between sample and THz wave, reduce THz wave absorption by water, and more effectively analyze the kinetics of biochemical reactions in aqueous solutions. This study investigates the effects of different external magnetic field intensities on the THz transmission characteristics of deionized water, CuSO 4 , CuCl 2 , (CH 3 COO) 2 Cu, Na 2 SO 4 , NaCl, and CH 3 COONa; the THz spectral intensity of the sample solutions decrease with increasing intensity of the applied magnetic field. Analysis shows that the magnetic field leads to a change in the dipole moment of water molecules in water and electrolyte solutions, which enhances not only the hydrogen-bond networking ability of water but also the hydration around ions in electrolyte solutions, increasing the number of hydrogen bonds. Increasing the intensity of this magnetic field further promotes the hydrogen-bond association between water molecules, weakening the THz transmission intensity of the solution.
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Tang Xiaojun,Xu Wuhen,Song Xiaozhen,Ye Haiyun,Ren Xiang,Yang Yongchen,Zhang Hong,Wu Shengnan,Lan Xiaoping 한국유전학회 2022 Genes & Genomics Vol.44 No.6
Background: Mitochondrial complex I deficiency (MCID) is the most common biochemical defect identified in childhood with mitochondrial diseases, mainly including Leigh syndrome, encephalopathy, macrocephaly with progressive leukodystrophy, hypertrophic cardiomyopathy and myopathy. Objective: To identify genetic cause in a patient with early onset autosomal recessive MCID. Methods: Trio whole-exome sequencing was performed and phenotype-related data analyses were conducted. All candidate mutations were confirmed by Sanger sequencing. Results: Here we report a child of Leigh syndrome presented with global developmental delay, progressive muscular hypotonia and myocardial damage. A missense mutation c.118C > T (p.Arg40Trp) and a previously reported mutation c.1157G > A (p.Arg386His) in NDUFV1 have been identified as compound heterozygous in the patient. The mutation p.Arg386His is closely associated with the impairment of 4Fe-4S domain and this mutation has been reported pathogenic. The c.118C > T mutation has not been reported in ClinVar and HGMD database. In silico protein analyses showed that p.Arg40 is highly conserved in a wide range of species, and the amino acid substitution p.Trp40 largely decreases the stability of NDUFV1. In addition, the mutation has not been detected in the Asian populations and it was predicted to be deleterious by numerous prediction tools. Conclusion: This research expands the mutation spectrum of NDUFV1 and substantially provides an early and accurate diagnosis basis of MCID, which would benefit subsequently effective genetic counseling and prenatal diagnosis for future reproduction of the family.
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