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Christoph Niemietz, Christoph Röcken, Matthias Schilling, Jörg Stypman, Constantin E Uhlig, Hartmut H-J Schmidt
Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated...
March 2018: Deutsche Medizinische Wochenschrift
Viola Andresen, Peter Layer
The irritable bowel syndrome (IBS) counts among the most prevalent chronic diseases. Clinically, the IBS is characterized by abdominal symptoms combined with irregular defecation, which are not explained by routine diagnostic tests. IBS is often triggered by enteric bacterial infections, and its pathogenesis involves disturbed enteric, gut-brain, and cerebral mechanisms. Diagnostic work-up must aim to establish a positive IBS diagnosis, and to exclude serious underlying differential diagnoses (such as neoplasia, inflammatory bowel disease, celiac disease and others)...
March 2018: Deutsche Medizinische Wochenschrift
Huihui Sun, Naijun Wan, Xinli Wang, Liang Chang, Dazhi Cheng
18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions...
March 16, 2018: Cytogenetic and Genome Research
Amanda A Soares, Jonathan P Castro, Pedro Balieiro, Sidnei Dornelles, Tiago M Degrandi, Ives J Sbalqueiro, Roberto Ferreira Artoni, Iris Hass
B chromosomes are supernumerary chromosomes found in the karyotypes of approximately 15% of all eukaryotic species. They present parasitic behavior and do not follow the standard Mendelian pattern of inheritance, resulting in an imbalance in gametogenesis. The evolutionary dynamics of B chromosomes is still unknown for many species, but studies indicate that the accumulation of repetitive sequences plays an important role in the differentiation of these elements. We analyzed morphology, frequency, and possible homologies amongst different B chromosomes found in an isolated Akodon montensis population in southern Brazil...
March 16, 2018: Cytogenetic and Genome Research
Jozef Kováčik, Sławomir Dresler, Petr Babula
Short-term (24 h) responses of Cladonia arbuscula subsp. mitis (formerly known as Cladina and this name is used to distinguish the tested species) and Cladonia furcata to nickel (Ni2+ ) excess (10 or 100 μM) were compared. Cladonia accumulated more Ni at higher Ni dose (1.717 mg total Ni/g DW), K amount was unaffected and Ca amount decreased in Cladina only. Fluorescence microscopy detection of total/general ROS and hydrogen peroxide showed Ni-stimulated increase in both species being more pronounced in Cladonia and in mycobiont partner mainly...
March 6, 2018: Plant Physiology and Biochemistry: PPB
Yanping Chen, Yingjun Chi, Qingchang Meng, Xiaolin Wang, Deyue Yu
In plants, various proteins are regulated by the ubiquitin-mediated system in response to different environmental stresses, such as drought, cold and heat. The Skp1-Cullin-F-box (SCF) complex, one of the multisubunit E3 ligases, has been shown to be involved in abiotic response pathways. In this study, Glycine max SKP1-like 1 (GmSK1), which had the typical characteristics of an SKP1 protein, with an alpha/beta structure, targeted to the cytoplasm and nucleus, was isolated from soybean [Glycine max (L.)]. GmSK1 was constitutively expressed in all the tested tissues, especially in the roots...
March 7, 2018: Plant Physiology and Biochemistry: PPB
Ande Rostvall, Wen Zhang, Wiebke Dürig, Gunno Renman, Karin Wiberg, Lutz Ahrens, Pablo Gago-Ferrero
This study evaluated the performance of five different sorbents (granular activated carbon (GAC), GAC + Polonite® (GAC + P), Xylit, lignite and sand) for a set of 83 micropollutants (MPs) (pharmaceuticals, perfluoroalkyl substances (PFASs), personal care products, artificial sweeteners, parabens, pesticide, stimulants), together representing a wide range of physicochemical properties. Treatment with GAC and GAC + P provided the highest removal efficiencies, with average values above 97%. Removal rates were generally lower for Xylit (on average 74%) and lignite (on average 68%), although they proved to be highly efficient for a few individual MPs...
March 6, 2018: Water Research
Rafael Sierra-Guzmán, Fernando Jiménez, Javier Abián-Vicén
BACKGROUND: Previous studies have reported the factors contributing to chronic ankle instability, which could lead to more effective treatments. However, factors such as the reflex response and ankle muscle strength have not been taken into account in previous investigations. METHODS: Fifty recreational athletes with chronic ankle instability and 55 healthy controls were recruited. Peroneal reaction time in response to sudden inversion, isokinetic evertor muscle strength and dynamic balance with the Star Excursion Balance Test and the Biodex Stability System were measured...
March 6, 2018: Clinical Biomechanics
Stacy A Voils, Mohamed H Shahin, Timothy J Garrett, Reginald F Frye
OBJECTIVE: Incidence of venous thromboembolism (VTE) in critically ill patients remains unacceptably high despite widespread use of thromboprophylaxis. A systems biology approach may be useful in understanding disease pathology and predicting response to treatment. Metabolite profile under specific environmental conditions provides the closest link to phenotype, but the relationship between metabolomics and risk of VTE in critically ill patients is unknown. In this study, metabolomics signatures are compared in patients with and without VTE...
March 8, 2018: Thrombosis Research
Adrienne J Bartlett, Amanda M Hedges, Kyna D Intini, Lisa R Brown, France J Maisonneuve, Stacey A Robinson, Patricia L Gillis, Shane R de Solla
Neonicotinoid insecticides are environmentally persistent and highly water-soluble, and thus are prone to leaching into surface waters where they may negatively affect non-target aquatic insects. Most of the research to date has focused on imidacloprid, and few data are available regarding the effects of other neonicotinoids or their proposed replacements (butenolide insecticides). The objective of this study was to assess the toxicity of six neonicotinoids (imidacloprid, thiamethoxam, acetamiprid, clothianidin, thiacloprid, and dinotefuran) and one butenolide (flupyradifurone) to Hexagenia spp...
March 12, 2018: Environmental Pollution
Hidehito Adaniya, Martin Cheung, Cathal Cassidy, Masao Yamashita, Tsumoru Shintake
A new SEM-based in-line electron holography microscope has been under development. The microscope utilizes conventional SEM and BF-STEM functionality to allow for rapid searching of the specimen of interest, seamless interchange between SEM, BF-STEM and holographic imaging modes, and makes use of coherent low-energy in-line electron holography to obtain low-dose, high-contrast images of light element materials. We report here an overview of the instrumentation and first experimental results on gold nano-particles and carbon nano-fibers for system performance tests...
March 6, 2018: Ultramicroscopy
Wei Tse Li, Hao Zheng, Vincent Nguyen, Jessica Wang-Rodriguez, Weg M Ongkeko
Though bladder urothelial carcinoma is the most common form of bladder cancer, advances in its diagnosis and treatment have been modest in the past few decades. To evaluate miRNAs as putative disease markers for bladder urothelial carcinoma, this study develops a process to identify dysregulated miRNAs in cancer patients and potentially stratify patients based on the association of their microRNAome phenotype to genomic alterations. Using RNA sequencing data for 409 patients from the Cancer Genome Atlas, we examined miRNA differential expression between cancer and normal tissues and associated differentially expressed miRNAs with patient survival and clinical variables...
March 12, 2018: Neoplasia: An International Journal for Oncology Research
Paulo R Frade, Luiza Notini, Sara V Santos, Regina F P M Moreira, Mônica M D Leão, Camila C Amorim
In this study, the steel manufacturing waste Basic Oxygen Furnace Sludge (BOFS) was tested as permeable reactive material for the remediation of soil contaminated with chromium. The material presents a high content of elemental iron and iron oxides typical of the steel manufacturing process. Here we propose a scheme of the chemical reactions responsible for remediation process including BOFS dissolution, Cr(VI) reduction and Cr(III) precipitation. Batch reactors showed that Cr(VI) removal increases as the pH decreases...
February 18, 2018: Journal of Hazardous Materials
Shiyun Chi, Cuizhen Wei, Jinxiu Zheng, Jun Hu, Ming Li, Juxiang Hu
In this study, the Li River and the middle-lower reaches of the Shaying River in the Shaying River basin were selected for an investigation on the effects of floodgates on macroinvertebrate communities; additionally, the relationships among floodgates, macroinvertebrate communities and river longitudinal connectivity were explored. The Li and Shaying rivers had similar ratios of molluscs and scrapers, but their species compositions were significantly different. The water level fluctuations in the Li River were based on natural hydrological characteristics, and these were very different from the fluctuations in the reaches of the Shaying River that were divided by a serious of floodgates...
March 12, 2018: Science of the Total Environment
Dian He, Yuan Li, Yunli Yu, Gang Cai, Fu Ouyang, Yuchan Lin, Hongjuan Lu, Lan Chu
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that primarily affects the skin and the nervous system. This condition is called segmental NF1 (also called neurofibromatosis type V) when clinical features are limited to one area of the body. Segmental NF1 is generally thought to result from somatic mosaicism due to a postzygotic mutation in the NF1 gene, thus a test for NF1 gene abnormalities in peripheral blood is usually negative. Here we report a 31-year-old male presenting with epileptic seizures, who had a history of neurofibromas confirmed by biopsy, but lacked a family history of neurofibromatosis...
March 1, 2018: Clinical Neurology and Neurosurgery
Lucie Angel, Badiâa Bouazzaoui, Michel Isingrini, Séverine Fay, Laurence Taconnat, Sandrine Vanneste, Moïse Ledoux, Valérie Gissot, Caroline Hommet, Fréderic Andersson, Laurent Barantin, Jean-Philippe Cottier, Jérémy Pasco, Thomas Desmidt, Frédéric Patat, Vincent Camus, Jean-Pierre Remenieras
Aging is characterized by a cognitive decline of fluid abilities and is also associated with electrophysiological changes. The vascular hypothesis proposes that brain is sensitive to vascular dysfunction which may accelerate age-related brain modifications and thus explain age-related neurocognitive decline. To test this hypothesis, cognitive performance was measured in 39 healthy participants from 20 to 80 years, using tests assessing inhibition, fluid intelligence, attention and crystallized abilities. Brain functioning associated with attentional abilities was assessed by measuring the P3b ERP component elicited through an auditory oddball paradigm...
March 12, 2018: Brain and Cognition
Ekaterina M Savelieva, Vladimir E Oslovsky, Dmitry S Karlov, Nikolay N Kurochkin, Irina A Getman, Sergey N Lomin, Georgy V Sidorov, Sergey N Mikhailov, Dmitry I Osolodkin, Georgy A Romanov
Biological effects of hormones in both plants and animals are based on high-affinity interaction with cognate receptors resulting in their activation. The signal of cytokinins, classical plant hormones, is perceived in Arabidopsis by three homologous membrane receptors: AHK2, AHK3, and CRE1/AHK4. To study the cytokinin-receptor interaction, we used 25 derivatives of potent cytokinin N6 -benzyladenine (BA) with substituents in the purine heterocycle and/or in the side chain. The study was focused primarily on individual cytokinin receptors from Arabidopsis...
March 12, 2018: Phytochemistry
Mathias Reisbeck, Lukas Richter, Michael Johannes Helou, Stephan Arlinghaus, Birgit Anton, Ignas van Dommelen, Mario Nitzsche, Michael Baßler, Barbara Kappes, Oliver Friedrich, Oliver Hayden
Time-of-flight (TOF) magnetic sensing of rolling immunomagnetically-labeled cells offers great potential for single cell function analysis at the bedside in even optically opaque media, such as whole blood. However, due to the spatial resolution of the sensor and the low flow rate regime required to observe the behavior of rolling cells, the concentration range of such a workflow is limited. Potential clinical applications, such as testing of leukocyte function, require a cytometer which can cover a cell concentration range of several orders of magnitude...
March 12, 2018: Biosensors & Bioelectronics
Ryan B Scott, Jason Samaha, Ron Chrisley, Zoltan Dienes
While theories of consciousness differ substantially, the 'conscious access hypothesis', which aligns consciousness with the global accessibility of information across cortical regions, is present in many of the prevailing frameworks. This account holds that consciousness is necessary to integrate information arising from independent functions such as the specialist processing required by different senses. We directly tested this account by evaluating the potential for associative learning between novel pairs of subliminal stimuli presented in different sensory modalities...
March 12, 2018: Cognition
Heida Maria Sigurdardottir, Liv Elisabet Fridriksdottir, Sigridur Gudjonsdottir, Árni Kristjánsson
Evidence of interdependencies of face and word processing mechanisms suggest possible links between reading problems and abnormal face processing. In two experiments we assessed such high-level visual deficits in people with a history of reading problems. Experiment 1 showed that people who were worse at face matching had greater reading problems. In experiment 2, matched dyslexic and typical readers were tested, and difficulties with face matching were consistently found to predict dyslexia over and above both novel-object matching as well as matching noise patterns that shared low-level visual properties with faces...
March 12, 2018: Cognition
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