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51.
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Limited potential of electroencephalogram (EEG), magnetic resonance images (MRI) and cerebrospinal fluid (CSF) test for 14-3-3 protein in the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) resulted in developments in diagnostic premortem tehniques. Recent studies provided evidence that magnetic resonance spectroscopy (MRS) and measurement of total-tau (T-tau) and phospho-tau (P-tau) may be useful to identify patients with CJD. We combined detected metabolic changes in the brain by MRS and measured T-tau and tau-pT181 by ELISA, and tau-pT231 by Westernblot in a patient with autopsy proven sCJD. Our results show that in contrast to negative CSF 14-3-3 protein, nonspecific EEG and MRI, MRS revealed metabolic alterations in regions of the brain that has appeared normal on MRI, and tau tests has shown measurable levels of phosphorylated and non-phosphorylated isoforms in CSF. We conclude that rapidly progressive dementia with negative 14-3-3 test and non-specific initial EEG and MRI must still be considered in the differential diagnosis of the sCJD. Combination of serial functional MRI along with MRS study and measurement of tau ratio could improve the early diagnosis of sCJD. The current case is the first attempt to study results of the use of MRS and tau tests in a case of sCJD with diagnostic dilemma.  相似文献   
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Intra-tumor heterogeneity concerns the existence of genetically different subclones within the same tumor. Single sample quantification of heterogeneity relies on precise determination of chromosomal copy numbers throughout the genome, and an assessment of whether identified mutation variant allele fractions match clonal or subclonal copy numbers. We discuss these issues using data from SNP arrays, whole exome sequencing and pathologist purity estimates on several breast cancers characterized by ERBB2 amplification. We show that chromosomal copy numbers can only be estimated from SNP array signals or sequencing depths for subclonal tumor samples with simple subclonal architectures under certain assumptions.

Electronic supplementary material

The online version of this article (doi:10.1186/s13059-014-0470-7) contains supplementary material, which is available to authorized users.  相似文献   
55.
The primary objective of this study is to investigate the maintenance difference in basic anthropometric characteristics and to outline the dynamics of respiratory function change in youngsters athletes exposed to passive smoking (PS) and athletes not exposed to passive smoking in their families (NPS). High and weight were determined as basis anthropometric characteristics. Measured parameters for respiratory function were vital capacity (VC), forced expiratory volume in the first second (FEV1), maximum expiratory flow (PEF), forced expiratory flow at 50% forced vital capacity (MEF 50) and forced expiratory flow at 25% forced vital capacity (MEF 25). Significant statistical differences in separate spirometric variable were found in three variables (FEV1, MEF50, and MEF25) for group older youngsters. Analysis of variance showed statistical differences between athletes unexposed to passive smoking (NPS) and athletes exposed to passive smoking (PS) in even four spirometric variables (VC, FEV1, MEF50 and MEF25).  相似文献   
56.
Potato tuber moth (PTM), Phthorimaea operculella, is a serious pest of stored potato in most countries where potatoes are grown. Entomopathogens offer promise as alternatives to broad spectrum insecticides for management of this pest. The fungus Muscodor albus, which produces a mixture of antimicrobial volatile organic chemicals, was tested for its insecticidal activity against PTM. Adults and neonate larvae were exposed to volatiles generated by 15 or 30 g of M. albus rye grain culture plus water for 72 h in hermetically sealed 28.3 L chambers at 24 degrees C. Mean percent mortalities in adult moths exposed to 0, 15, and 30 g of fungal formulation were 0.9, 84.6, and 90.6%, respectively. Development to the pupal stage of PTM that were exposed as neonate larvae to 15 or 30 of M. albus culture was reduced by 61.8 and 72.8%, respectively, relative to controls.  相似文献   
57.
While biochemical and biomechanical cues are known to play important roles in directing stem cell differentiation, there remains little known regarding how these inextricably linked biological cues impact the differentiation fate of human marrow stromal cells (hMSCs). This study investigates the chondrogenic differentiation potential of hMSCs when encapsulated in a three dimensional (3D) hydrogel and exposed to a biochemical cue, chondroitin sulfate (ChS), a biomechanical cue, dynamic loading, and their combination. hMSCs were encapsulated in bioinert poly(ethylene glycol) (PEG) hydrogels only, PEG hydrogels modified with covalently incorporated methacrylated ChS and cultured under free swelling conditions or subjected to delayed intermittent dynamic loading for 2 weeks. The 3D hydrogel environment led to the expression of chondrogenic genes (SOX9) and proteins (aggrecan and collagen II), but also upregulated hypertrophic genes (RUNX2 and Col X mRNA) and proteins (collagen X), while the application of loading generally led to a downregulation in chondrogenic proteins (collagen II). The presence of ChS led to elevated levels of aggrecan, but also collagen I, protein expression and when combined with dynamic loading downregulated, but did not suppress, hypertrophic genes (Col X and RUNX2) and collagen I protein expression. Taken together, this study demonstrates that while the 3D environment induces early terminal differentiation during chondrogenesis of hMSCs, the incorporation of ChS into PEG hydrogels may slow the terminal differentiation process down the hypertrophic lineage particularly when dynamic loading is applied. Biotechnol. Bioeng. 2012; 109: 2671–2682. © 2012 Wiley Periodicals, Inc.  相似文献   
58.
Single giant unilamellar vesicles (GUVs) rupture spontaneously from their salt-laden suspension onto solid surfaces. At hydrophobic surfaces, the GUVs rupture via a recurrent, bouncing ball rhythm. During each contact, the GUVs, rendered tense by the substrate interactions, porate, and spread a molecularly transformed motif of a monomolecular layer on the hydrophobic surface from the point of contact in a symmetric manner. The competition from pore closure, however, limits the spreading and produces a daughter vesicle, which re-engages with the substrate. At solid hydrophilic surfaces, by contrast, GUVs rupture via a distinctly different recurrent burst-heal dynamics; during burst, single pores nucleate at the contact boundary of the adhering vesicles, facilitating asymmetric spreading and producing a “heart”-shaped membrane patch. During the healing phase, the competing pore closure produces a daughter vesicle. In both cases, the pattern of burst-reseal events repeats multiple times, splashing and spreading the vesicular fragments as bilayer patches at the solid surface in a pulsatory manner. These remarkable recurrent dynamics arise, not because of the elastic properties of the solid surface, but because the competition between membrane spreading and pore healing, prompted by the surface-energy-dependent adhesion, determine the course of the topological transition.  相似文献   
59.
Genetic transformation of the codling moth, Cydia pomonella, was accomplished through embryo microinjection with a plasmid-based piggyBac vector containing the enhanced green fluorescent protein (EGFP) gene. Sequencing of the flanking regions around the inserted construct resulted in identification of insect genomic sequences, not plasmid sequences, thus providing evidence that the piggyBac EGFP cassette had integrated into the codling moth genome. EGFP-positive moths were confirmed in the 28th and earlier generations post injection through PCR and Southern blot analyses, indicating heritability of the transgene.  相似文献   
60.
Obesity is chronic disease with multiple health consequences and among the most severe health problems worldwide. According to public health records around 65% of population in Croatia are overweight and 20% obese. National physicians chamber with support of Health and Social Welfare Ministry gave recommendations on diagnosing and treating of obesity in form of national consensus. Treatment of obesity is complex and enrolls multiple clinical specialties. Change of life style, strenuous physical activity and pharmacotherapy are part of conservative treatments. Patients are treated more efficiently by minimally invasive endoscopic procedures or bariatric surgery depending on starting body mass index score. Implantation of intragastric balloons is conceptually simple method of obesity treatment. Modern devices as Bio-Enterics intragastric balloons (BIB), (Inamed Health, USA) are gaining wide popularity among both patients and physicians. BIB intragastric offers the best gains with individuals ranging BMI from 35 to 40. Efficiency has relative timeline dependance from 85% at 6 months to 24% at 36 months. BIB offers substantial ameliorative influence on obesity comorbidities, particularly cardiovascular risk. Treatment with BIB is also efficient but transient treatment modality in morbidly and superobese individuals to reduce preoperative risks of general and bariatric surgery. Obesity treatment with BIB is well tolerated and safe, offering better quality of life. Nevertheless, due to relative poor results of conservative obesity treatments on long-term follow up further investigations defining new clinical parameters for solving treatment resistance. In order to provide resourcefully individualized approach modern perspectives are focused on endocrine constitutes of obesity. Hormonal effects of BIB treatment in compare to bariatric surgery are potentially interesting for the prospect studies.  相似文献   
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