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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
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
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
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
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
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
Alberto Gómez, Manuel Nieto-Díaz, Ángela Del Águila, Enrique Arias
Transparency in science is increasingly a hot topic. Scientists are required to show not only results but also evidence of how they have achieved these results. In experimental studies of spinal cord injury, there are a number of standardized tests, such as the Basso-Beattie-Bresnahan locomotor rating scale for rats and Basso Mouse Scale for mice, which researchers use to study the pathophysiology of spinal cord injury and to evaluate the effects of experimental therapies. Although the standardized data from the Basso-Beattie-Bresnahan locomotor rating scale and the Basso Mouse Scale are particularly suited for storage and sharing in databases, systems of data acquisition and repositories are still lacking...
March 2, 2018: Computers in Biology and Medicine
Irena Branyikova, Monika Filipenska, Katerina Urbanova, Marek C Ruzicka, Martin Pivokonsky, Tomas Branyik
Alkaline flocculation has been studied due to its potential as a low-cost harvesting method for microalgae. However, surface properties (zeta potential, contact angles) as inputs into physicochemical interaction models have not yet been applied systematically. In this work, forced alkaline flocculation of the freshwater microalgae Chlorella vulgaris induced by calcium phosphate precipitates was studied as a model system. Response surface methodology was used to quantify the effect of independent variables (concentration of Ca2+ (0...
March 6, 2018: Colloids and Surfaces. B, Biointerfaces
Emily Wonder, Lorena Simón-Gracia, Pablo Scodeller, Ramsey N Majzoub, Venkata Ramana Kotamraju, Kai K Ewert, Tambet Teesalu, Cyrus R Safinya
Cationic liposome-nucleic acid (CL-NA) complexes, which form spontaneously, are a highly modular gene delivery system. These complexes can be sterically stabilized via PEGylation [PEG: poly (ethylene glycol)] into nanoparticles (NPs) and targeted to specific tissues and cell types via the conjugation of an affinity ligand. However, there are currently no guidelines on how to effectively navigate the large space of compositional parameters that modulate the specific and nonspecific binding interactions of peptide-targeted NPs with cells...
March 2, 2018: Biomaterials
Myra Sabir, Margaret A Johnson
We articulate the lifespan theory of change by which an attachment-focused integrative reminiscence intervention, "Life Writing", is expected to interrupt the continuing problem of insecure attachment in adults and reverse associated reduced health and well-being outcomes. Based on preliminary studies and previous research, Life Writing is expected to foster earned-secure attachment in adults who work through subjective memories of unresolved attachment trauma. Roughly two decades of research on integrative reminiscence interventions like Life Writing show their consistent and wide-ranging positive impact...
February 13, 2018: Evaluation and Program Planning
Karsten Königstein, Denis Infanger, Christopher Klenk, Timo Hinrichs, Anja Rossmeissl, Sandra Baumann, Benjamin Hafner, Henner Hanssen, Arno Schmidt-Trucksäss
BACKGROUND AND AIMS: Higher cardiorespiratory fitness is associated with lower pulse wave velocity and arterial stiffness in normal weight individuals, and this has not been examined in obese individuals. It is unclear whether an altered body composition acts as a modifier of the association between cardiorespiratory fitness and arterial stiffness. We examined the association between peak oxygen uptake and brachial-ankle pulse wave velocity and analysed whether body composition attenuates this association in obese middle-aged individuals...
March 8, 2018: Atherosclerosis
Christoph Höchsmann, Anja Rossmeissl, Sandra Baumann, Denis Infanger, Arno Schmidt-Trucksäss
OBJECTIVES: To examine cardiorespiratory exertion during mini trampoline exercises of different intensities in both endurance-trained athletes and overweight-obese adults. METHODS: Physically healthy participants (Group A: normal-weight, endurance-trained athletes; Group B: inactive, overweight-obese adults) participated in two measurement appointments and three training sessions in between appointments, in which participants familiarized themselves with the use of the mini trampoline and the execution of the exercises...
March 15, 2018: European Journal of Sport Science
Walquiria Batista Andrade, Jeferson Lucas Jacinto, Douglas Kratki da Silva, Mirela Casonato Roveratti, José Maria Estoche, Douglas Benedito Oliveira, Mario Carlos Welin Balvedi, Rubens A da Silva, Andreo Fernando Aguiar
The purpose of this study was to investigate the effects of L-arginine (L-arg) supplementation on muscle recovery process after a single session of high-intensity resistance exercise (RE). 20 healthy young adult (22.8 ± 3.4 y) participants were assigned to two groups (N = 10/group): a placebo-supplement group (PLA) or a L-arginine-supplement group (ARG). The groups completed a session of high-intensity RE (0h), and three subsequent fatigue tests sessions (at 24, 48 and 72 h post-exercise) to assess the time course of muscle recovery...
March 15, 2018: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
Débora Finger, Fábio Juner Lanferdini, Juliano Boufleur Farinha, Clarissa Müller Brusco, Lucas Helal, Francesco Pinto Boeno, Eduardo Lusa Cadore, Ronei Silveira Pinto
INTRODUCTION: Protein (PRO) combined with a carbohydrate (CHO) beverage may have an ergogenic effect on endurance performance. However, evidence regarding its efficacy on similar conditions to athletes' race day is still lacking. OBJECTIVE: To compare the effect of three different nutritional supplementation strategies on performance and muscle recovery in a duathlon protocol. METHODS: , 13 male athletes (29.7 ± 7.7 years) participated in three simulated Olympic-distance duathlons under three different, randomly assigned, supplementation regimens: carbohydrate drink (CHO, 75 g); isocaloric CHO plus protein drink (CHO+PRO, 60...
March 15, 2018: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
Nicolien A Van Vliet, Raymond Noordam, Jan B Van Klinken, Rudi G J Westendorp, J H Duncan Bassett, Graham R Williams, Diana Van Heemst
With population aging, prevalence of low bone mineral density (BMD) and associated fracture risk are increased. To determine whether low circulating thyroid stimulating hormone (TSH) levels within the normal range are causally related to BMD, we conducted a two-sample Mendelian randomization (MR) study. Furthermore, we tested whether common genetic variants in the TSH receptor (TSHR) gene and genetic variants influencing expression of TSHR (eQTLs) are associated with BMD. For both analyses, we used summary-level data of genome-wide association studies (GWAS) investigating BMD of the femoral neck (N = 32,735) and the lumbar spine (N = 28,498) in cohorts of European ancestry from the Genetic Factors of Osteoporosis (GEFOS) Consortium...
March 15, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Cherian K Kandathil, Emily A Spataro, Katri Laimi, Sami P Moubayed, Sam P Most, Mikhail Saltychev
Importance: While functional rhinoplasty has been broadly studied, to our knowledge no systematic review and meta-analysis of lateral wall repair has been done previously. Objective: To evaluate the effectiveness of repair of the lateral nasal wall in adult patients with nasal airway obstruction. Data Sources: Medline, Embase, Cinahl, Central, Scopus, and Web of Science databases and reference lists were searched for clinical and observational studies...
March 15, 2018: JAMA Facial Plastic Surgery
Krzysztof Karpowicz, Katarzyna Krych, Małgorzata Karpowicz, Witold Nowak, Piotr Gronek
The map of candidate genes that can potentially affect physical fitness becomes larger every year, and they are associated with such aspects as respiratory and cardiovascular stability; body build and composition - especially muscle mass and strength; carbohydrate and lipid metabolism; response to training; and exercise intolerance.The aim of this study was to analyze the relationship between the CA repeat polymorphism of the P1 promoter of the IGF1 gene and the structure of motor skills in the two groups of Polish young athletes in 2011-2013...
March 15, 2018: Acta Biochimica Polonica
Laurits J Holm, Martin Haupt-Jorgensen, Jesper Larsen, Jano D Giacobini, Mesut Bilgin, Karsten Buschard
Sphingolipids are a diverse group of lipids with important roles in beta-cell biology regulating insulin folding and controlling apoptosis. Sphingolipid biosynthesis begins with the condensation of L-serine and palmitoyl-CoA. Here we tested the effect of L-serine supplementation on autoimmune diabetes development and blood glucose homeostasis in female NOD mice. We found that continuous supplementation of L-serine reduces diabetes incidence and insulitis score. In addition, L-serine treated mice had an improved glucose tolerance test, reduced HOMA-IR, and reduced blood glucose levels...
2018: PloS One
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