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Paraskevi Tsingeli Maria Christina Papadatou Despoina Psillaki Vasileios Tragoulias Nikolaos Groumas Yannis Dionyssiotis 《Journal of musculoskeletal & neuronal interactions》2021,21(2):326
Von Hippel Lindau (VHL) is a hereditary multiple neoplasia syndrome. We report a case series of two siblings with Von Hippel Lindau (VHL) disease admitted to the rehabilitation department after surgical excision of Central Nervous System (CNS) haemangioblastomas. These clinical cases present rehabilitation challenges in VHL disease. We present a 39-year-old brother and his 45-year-old sister, with the diagnosis of incomplete spinal cord injury (SCI) associated with VHL syndrome lesions. The female patient was diagnosed with chronic motor incomplete cervical SCI and the male patient with acute motor incomplete thoracic SCI. Our target was to increase their functionality and improve their quality of life. Both underwent a comprehensive inpatient rehabilitation program. Programs were individualized as the female patient was admitted 15 years after her spinal cord surgical intervention, while the male patient’s admission was after 4 months of his surgery. 相似文献
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We report here trends in the usage of “mood” words, that is, words carrying emotional content, in 20th century English language books, using the data set provided by Google that includes word frequencies in roughly 4% of all books published up to the year 2008. We find evidence for distinct historical periods of positive and negative moods, underlain by a general decrease in the use of emotion-related words through time. Finally, we show that, in books, American English has become decidedly more “emotional” than British English in the last half-century, as a part of a more general increase of the stylistic divergence between the two variants of English language. 相似文献
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Stelios Paraskevaidis Efstratios K. Theofilogiannakos Vasileios Kamperidis Yiannis S. Chatzizisis Konstantinos Tsilonis Vassilios P. Vassilikos George Dakos George Stavropoulos Antonios Ziakas Stavros Hadjimiltiades Ioannis H. Styliadis 《Indian pacing and electrophysiology journal》2013,13(5):178-180
Brugada syndrome is an inherited channelopathy associated with an increased risk of syncope and sudden cardiac death. In rare cases it can be manifested with electrical storm. We report two cases of Brugada syndrome that presented with electrical storm and were treated successfully with oral quinidine, an "endangered species" drug. 相似文献
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The polycrystalline inclusion complex of cyclomaltohexaose, (alpha-CD)(2) x NaI(5) x 8H(2)O, has been investigated via dielectric spectroscopy over a frequency range of 0-100 kHz and the temperature range of 125-450 K. Additionally, a Raman spectroscopy study was accomplished in the temperature ranges of (i) 153-298 K and (ii) 303-413 K. The ln sigma versus 1/T variation revealed the order-disorder transition of some normal hydrogen bonds to those of a flip-flop type at 200.9 K. From 278.3 up to 357.1K, the progressive transformation (H(2)O)(tightly bound)-->(H(2)O)(easily movable) takes place resulting in an Arrhenius linear increment of the ac-conductivity with activation energy E(a)=0.32 eV. In the range of 357.1-386.1K a second linear part with E(a)=0.55 eV is observed, indicating the contribution of sodium ions via the water-net.The rapid decrease of the ac-conductivity at T>386.1K is due to the removal of the water molecules from the crystal lattice, whereas the abrupt increase at T>414.9 K is caused by the sublimation of iodine.The Raman bands at 160 and 169 cm(-1) indicate the coexistence of (I(2) x I(-) x I(2)) and (I3(-) x I(2)<-->I(2) x I3(-)) units, respectively.The (I3(-) x I(2)<-->I(2) x I3(-)) units are presented as form (I), and their central I(-) ion is disordered in occupancy ratio different from 50/50 (e.g., ...60/40...70/30...).The(I(2) x I(-) x I(2)) units are displayed by the 2 equiv forms (IIa) and (IIb). In (IIa) the central I(-) ion is twofold disordered in an occupancy ratio of 50:50, whereas in (IIb) the central I(-) ion is well-ordered and equidistant from the two I(2) molecules. At low temperatures the transformation (I)-->(IIa) takes place, whereas at high temperatures the inverse one (IIa)-->(I) happens. X-ray powder diffraction and Rietveld analysis revealed a triclinic crystal form with space group P1 and lattice parameters that are in good agreement with the theoretical values. 相似文献
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Plant and Soil - Natural and managed soils have been identified as the largest sources of atmospheric nitrous oxide (N2O). However, the quantification of N2O emissions from soils under natural... 相似文献
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Vasileios Papadopoulos Ioannis Mitroulis Stavros Giaglis 《Molecular biology reports》2010,37(1):355-358
Turkey is one of the few countries in the world where Familial Mediterranean Fever (FMF), an autoinflammatory disease caused
by mutations in MEFV, the gene encoding pyrin, is not rare. Many interesting studies regarding the genetics of Familial Mediterranean Fever in
Turkey have been already published. Despite that different MEFV genetic profiles have been revealed for Turkish FMF patients, deriving from different regions of Turkey, a systematic population
genetics analysis has not been carried out yet. The present study aims to investigate the population genetics of MEFV in Turkish FMF patients so as to additionally facilitate the clinical interpretation of individualized genetic data. All
relevant studies have been recruited by searching PubMed with the terms “MEFV”, “FMF”, and “Turkey”. Seven of them, including
3,061 FMF patients, contained all necessary data concerning allelic and genotypic frequencies of the 4 commonest MEFV mutations in Turkey (M694V, V726A, M680I, E148Q). From all 6,122 MEFV alleles analyzed, the M694V mutation was recognized in 15.6–52.2% (mean 29.3%), the V726A in 1.5–9.7% (mean 4.8%), the M680I
in 1.5–15.5% (mean 7.6%), and the E148Q in 3.2–13.9% (mean 5.5%). Unidentified mutations ranged from 0–42.9% (mean 16.8%).
No mutations were found in 0–54.5% (mean 36.0%) of the patients. The allelic and genotypic frequencies of the most frequent
mutation (M694V) showed aberration of the Hardy–Weinberg law for all 7 populations studied. By application of the Arlequin
2.0 population genetics software, the Fixation index (F
ST) was found to be 0.09994, thus demonstrating that the observed variability is mainly within (90.006%) and not among (9.994%)
populations (P < 0.00001). Moreover, the global test of differentiation demonstrated that every population differs from each other (P < 0.00325). Finally, the Ewens–Watterson test of selective neutrality yielded to statistical significance in only 3 populations.
In conclusion, Turkish FMF patients are characterized by an increased genetic heterogeneity, explained by the intrapopulation
differentiation. Thus, the regional origin should be regarded as a determining factor in the diagnosis of FMF in Turkish patients. 相似文献
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