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排序方式: 共有753条查询结果,搜索用时 15 毫秒
31.
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
32.
María A. Vasco-Mogorrn Jos A. Campillo Adela Periago Valentin Cabaas Mercedes Berenguer María C. García-Garay Lourdes Gimeno María F. Soto-Ramírez María D. Martínez-Hernndez Manuel Muro Alfredo Minguela 《International journal of molecular sciences》2021,22(8)
Proliferation and apoptosis of neoplastic cells are prognostic biomarkers in plasma cell neoplasms (PCNs). The prognostic capacity of proliferation to apoptosis ratio (Ratio-PA) in the era of immunomodulatory treatments is re-evaluated in 316 gammopathy of undetermined significance (MGUS), 57 smoldering multiple myeloma (SMM), and 266 multiple myeloma (MM) patients. Ratio-PA of 0.77 ± 0.12, 1.94 ± 0.52, and 11.2 ± 0.7 (p < 0.0001) were observed in MGUS, SMM, and MM patients. Ten-year overall survival (10y-OS) rates for patients with low/high Ratio-PA were 93.5%/77.3% p < 0.0001) for MGUS, 82.5%/64.7% (p < 0.05) for SMM, and 62.3%/47.0% (p < 0.05) for MM. For patients with low, intermediate, and high risk, 10y-OS for low/high Ratio-PA were 95.5%/72.9% (p < 0.0001), 74.2%/50.4% (p < 0.0001), and 35.3%/20.0% (p = 0.836), respectively. Ratio-PA was an independent prognostic factor for OS (HR = 2.119, p < 0.0001, Harrell-C-statistic = 0.7440 ± 0.0194) when co-analyzed with sex, age, and standard risk. In patients with Ratio-PAhigh, only first-line therapy with VRd/VTd, but not PAD/VCD, coupled with ASCT was associated with high 10y-OS (82.7%). Tumor cell Ratio-PA estimated at diagnosis offers a prognostic biomarker that complements standard risk stratification and helps to guide the clinical management of pre-malignant and symptomatic PCNs. Every effort should be made to provide first-line therapies including VTd or VRd associated with ASCT to patients with Ratio-PAhigh at higher risk of progression and death. 相似文献
33.
Florina D. Cojocaru Vera Balan Constantin-Edi Tanase Ionel Marcel Popa Maria Butnaru Ovidiu Bredetean Mihai Mares Valentin Nastasa Sorin Pasca Liliana Verestiuc 《Ceramics International》2021,47(8):11209-11219
Fine-tuning of the scaffolds structural features for bone tissue engineering can be an efficient approach to regulate the specific response of the osteoblasts. Here, we loaded magnetic nanoparticles aka superparamagnetic iron oxide nanoparticles (SPIONs) into 3D composite scaffolds based on biological macromolecules (chitosan, collagen, hyaluronic acid) and calcium phosphates for potential applications in bone regeneration, using a biomimetic approach. We assessed the effects of organic (chitosan/collagen/hyaluronic acid) and inorganic (calcium phosphates, SPIONs) phase over the final features of the magnetic scaffolds (MS). Mechanical properties, magnetic susceptibility and biological fluids retention are strongly dependent on the final composition of MS and within the recommended range for application in bone regeneration. The MS architecture/pore size can be made bespoken through changes of the final organic/inorganic ratio. The scaffolds undertake mild degradation as the presence of inorganic components hinders the enzyme catalytic activity. In vitro studies indicated that osteoblasts (SaOS-2) on MS9 had similar cell behaviour activity in comparison with the TCP control. In vivo data showed an evident development of integration and resorption of the MS composites with low inflammation activity. Current findings suggest that the combination of SPIONs into 3D composite scaffolds can be a promising toolkit for bone regeneration. 相似文献
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Within 12 months of the discovery of X rays in 1895, papers appeared in the literature reporting adverse effects from high exposure. In 1925, the first International Congress of Radiology, held in London, considered the need for a protection committee, which it established at its second congress in Stockholm in 1928. This paper celebrates the 80th anniversary of ICRP by tracing the history of the development of its policies, and identifying a few of the personalities involved from its inception up to the modern era. The paper follows the progress from the early controls on worker doses to avoid deterministic effects, through the identification of stochastic effects, to the concerns about public exposure and increasing stochastic risk estimates. The key features of the recommendations made by ICRP from 1928 up to the most recent in 2007 are identified. 相似文献
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Valentin G. Peschansky Mark V. Kartsovnik 《Journal of Low Temperature Physics》1999,117(5-6):1717-1721
The dependence of the resistance and the Hall field in organic metals with the quasi-two-dimensional electron energy spectrum on the magnetic field strength and orientation is analyzed in the strong field limit. The inter-plane resistance is shown to be strongly dependent on the of magnetic field orientation. When the angle between the field and the highly conducting plane is zero, the resistance increases linearly in a relatively wide field range. The angle dependence of magnetoresistance at small is nonmonotonic: it exhibits a local minimum and then a sharp peak around = 0. The Hall constant in strong magnetic field does not depend on the field orientation. 相似文献
40.
The rate of anaerobic glucose fermentation by baker's yeast is found to be altered when tap water is replaced with "levitated" (i.e., hydrodynamically processed) water. To analyze the effect in more detail, we developed a fermentation kinetics model that differentiates between (i) nutrient transport into the cell, (ii) the "catabolic" and (iii) the "anabolic" reactions. As a result, the levitated water affects specifically the glucose uptake kinetics, whereas the other kinetic parameters remain unchanged. Remarkably, the sign of the effect changes with the water used to prepare the culture. When levitated water is used for both the culture preparation and the fermentation, the rate constant of glucose transport is increased by (67+/-25)%, relative to ordinary tap-water. When the culture is prepared in ordinary water and only the fermentation is performed in levitated water, the rate constant of glucose transport decreased by (50+/-12)%. Three-week old levitated water has no discernable effect any more. 相似文献