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41.
Andreas Brodehl Alexey Meshkov Roman Myasnikov Anna Kiseleva Olga Kulikova Brbel Klauke Evgeniia Sotnikova Caroline Stanasiuk Mikhail Divashuk Greta Marie Pohl Maria Kudryavtseva Karin Klingel Brenda Gerull Anastasia Zharikova Jan Gummert Sergey Koretskiy Stephan Schubert Elena Mershina Anna Grtner Polina Pilus Kai Thorsten Laser Valentin Sinitsyn Sergey Boytsov Oxana Drapkina Hendrik Milting 《International journal of molecular sciences》2021,22(7)
About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown and a genetic contribution might be underestimated. Here, we used a next-generation sequencing (NGS) approach and in addition single nucleotide polymor-phism (SNP) arrays for the genetic analysis of two independent index patients without familial medical history. Of note, this genetic strategy revealed a homozygous splice site mutation (DSG2–c.378+1G>T) in the first patient and a nonsense mutation (DSG2–p.L772X) in combination with a large deletion in DSG2 in the second one. In conclusion, a recessive inheritance pattern is likely for both cases, which might contribute to the hidden medical history in both families. This is the first report about these novel loss-of-function mutations in DSG2 that have not been previously identi-fied. Therefore, we suggest performing deep genetic analyses using NGS in combination with SNP arrays also for ACM index patients without obvious familial medical history. In the future, this finding might has relevance for the genetic counseling of similar cases. 相似文献
42.
Thermoanalytical (TA) studies including differential scanning calorimetric (DSC) and thermogravimetric (TG) analyses were carried out to measure characteristics of dried mixtures based on two unsaturated polycarboxylic acids. Model 9% treatment (pad) solutions of maleic (M) and/or itaconic (I) acid, with and without potassium peroxydisulfate (K) as the free-radical initiator, were prepared with sodium hypophosphite (H) as the catalyst and vacuum oven-dried. DSC thermograms varied with each component; even the presence of a small amount of component K was evident. TG residue production and maximum rates of weight loss were the most useful thermal parameters. Residue/rate factors, used previously as predictors, were calculated. Previous studies indicated that high residues and low rates were indicators of combinations of reactants that resulted in good durable press treatments for fabrics. Residue/rate factors were used to rank the six mixtures that reflect actual fabric treatment combinations: MH, IH, MIH, and those same three with the initiator present. Rankings indicated that the presence of the initiator significantly increased the residue/rate factor for IHK and for MIHK. The presence of the initiator appears more beneficial to itaconic acid than to maleic acid. The rankings by the TA predictor agreed with textile properties measuring appearance and strength. © 1994 John Wiley & Sons, Inc. 相似文献
43.
Three commercial rubber compounds used in marine applications were immersed in water or in 3.5% NaCl solution for up to 250 days. Tear strengths, measured with the “trousers” test piece, decreased in the order dry > salt water exposed > fresh water exposed, and changes of up to 50% were seen. Tensile strengths also decreased, but not always in the same proportion, suggesting a possible change in structure of the voids which initiate fracture. Results are discussed in terms of osmotic swelling and extraction of rubber components. 相似文献
44.
The aim of this study was to evaluate the effects of the 5.25% sodium hypochlorite (NaOCl), 2% chlorhexidine (CHX), and MTAD solutions on the surface of gutta‐percha and Resilon cones by using atomic force microscopy (AFM). Accessory cones were washed and dried. The cones were randomly divided into six groups: gutta‐percha immersed in NaOCl, CHX, and MTAD, and Resilon immersed in NaOCl, CHX, and MTAD. AFM images of the same area were made in different periods of time. JPK? Image Processing Software was used to evaluate the images. The parameters used to evaluate the changes were RMS and line profiles. No statistically significant change was observed in the RMS values. The line profiles detected changes only for gutta‐percha surfaces after immersion in NaOCl and MTAD solutions. In conclusion, 5.25% NaOCl and MTAD are associated with local changes in surface roughness of gutta‐percha cones. No change was observed when 2% CHX was used. The use of all tested solutions did not produce any changes on Resilon surface. Microsc. Res. Tech. 75:791–795, 2012. © 2012 Wiley Periodicals, Inc. 相似文献
45.
This pilot study focused on the effects of assertion training on 14 physically disabled undergraduates' acceptance of disability. A pretest–posttest control group design was utilized. Ss were randomly assigned to either a treatment group or a no-treatment control group. The hypotheses analyzed were that Ss given assertion training would show increases in Acceptance of Disability Scale scores, self-concept/esteem scores (Rathus Assertiveness Scale), and social interaction skills scores (Behavioral Observation Scale) when compared with individuals who did not experience assertion training. Significant results were obtained for all hypotheses indicating that the groups differed in acceptance of disability, self-concept, and social interaction. The study suggests that assertion training may be effective for increasing acceptance of disability in physically disabled students. (11 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
46.
Compared the autonomic functioning of male process schizophrenics, reactive schizophrenics, and normal ss (n = 30) under rest and arousal conditions. Ss were exposed to 6 arousal conditions: (a) white noise, (b) electric shock, (c) paired associate learning, (d) word activity test, (e) finger dexterity task, and (f) pursuit rotor task. Rest periods preceded each arousal condition. Heart rate, skin resistance, respiration rate, diastolic and systolic blood pressures were recorded under all 6 conditions. Results show that under stress the levels of physiological functioning for normal ss and reactive schizophrenics were similar on skin resistance and blood pressure, with process schizophrenics showing a higher level of arousal on skin resistance and a lower level on blood pressure. Reactive schizophrenics had the fastest heart rate, with process schizophrenics next, and normals the lowest. Respiration did not reliably differentiate among the groups. Reactive schizophrenics and normals generally showed greater increments to the arousal conditions (compared with prestress base lines) than the process schizophrenics in all measures except heart rate and skin resistance. In those 2 measures, reactive and process schizophrenics were similar in their reactions to the stress conditons, and both groups showed less reactivity in general than normals. (french summary) (31 ref.) (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
47.
Comments on the article by Alexander G. Wesman (see record 1968-18802-001), in which he proposed an organization of intelligence as a composite of all past learning experiences and discussed intelligence tests and what they truly measure. The current author responds to a point Wesman made, which implied that the Culture-Fair test had been designed for no sound purpose. It is suggested that one way to distinguish between the child who truly cannot benefit from regular class instruction and one who could would be to get some measure of what he has acquired (learned) from his particular subculture. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
48.
Brenda M. Fox Geoffrey Hallas John D. Hepworth Donald Mason 《Journal of chemical technology and biotechnology (Oxford, Oxfordshire : 1986)》1980,30(1):317-323
The hydrolysis of Brilliant Green has been studied over the pH range 6–11. In neutral aqueous solution and in the absence of light, the system reaches equilibrium. In alkaline solution, complete conversion into the dye base occurs. Rate constants and activation parameters have been obtained for the hydrolysis and a reaction scheme is proposed. 相似文献
49.
Triphenylchloromethane and p-toluenesulfonyl chloride were reacted with chopped or powdered cellulose, with and without premercerization, to form trityl–cellulose ethers or tosyl–cellulose esters. Powdered and premercerized cellulose samples were more readily derivatized. Differential scanning calorimetric (DSC) and thermogravimetric (TG) analyses were performed in nitrogen on these derivatives. DSC and TG thermograms were affected by the particular derivative and the degree of substitution. The decomposition temperatures for both derivatives were lower than for the unmodified cellulose. Trityl cleavage may have been detected by DSC as a broad endothermic area showing no weight loss that preceded the major endothermic decomposition peak. Decomposition temperatures were lowered, but not sufficiently to prevent decomposition products from being combustible. No increase in residue was effected. Thermal decomposition of tosyl–cellulose was substantially different from that of the trityl derivative. As the degree of tosyl substitution increased, decomposition occurred at lower temperatures as an increasing exotherm. Tosyl derivatives all produced high residues. These changes in thermal characteristics were indicative of increased flame resistance. Oxygen index (OI) values relate to flame resistance and show that tritylation was detrimental to the cellulose and that tosylation imparted some degree of flame resistance. 相似文献
50.
Brenda S. Weakley 《Journal of microscopy》1974,101(2):127-141
‘EM grade’ glutaraldehydes from three suppliers were tested for the following: (1) pH of stock solution, (2) 235/280 nm UV absorbance ratio, (3) milliosmolarity of 2% and 4% solutions, (4) quality of fixation produced in ovarian tissue by fixatives prepared from each stock solution. Low pH of the stock solution appeared to be the most detrimental factor in fixation. Fixatives with a low 235/280 nm ratio (between 0·18 and 0·67) did not give good fixation regardless of the pH of the stock solution. Fixatives made from stock solutions with a pH above 4 and a 235/280 nm ratio between 1 and 2 resulted in the best preservation of ultra-structure. Variations in milliosmolarity from one batch of stock solution to another were encountered, but appeared to have no correlation with the quality of fixation.; Received 1 October 1973; revision received 20 December 1973 相似文献