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https://www.readbyqxmd.com/read/28815939/paternal-transmission-of-a-fmr1-full-mutation-allele
#1
Maria Isabel Alvarez-Mora, Miriam Guitart, Laia Rodriguez-Revenga, Irene Madrigal, Elisabeth Gabau, Montserrat Milà
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and autism. In most of cases, the molecular basis of this syndrome is a CGG repeat expansion in the 5' untranslated region of the FMR1 gene. It is inherited as an X linked dominant trait, with a reduced penetrance (80% for males and 30% for females). Full mutation (FM) expansion from premutated alleles (PM) is only acquired via maternal meiosis, while paternal transmission always remains in the PM range. We present a 16-year-old girl with a mild fragile X syndrome phenotype...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28813894/validity-of-a-sensor-based-table-top-platform-to-measure-upper-limb-function
#2
Michael Mace, Sarah Guy, Asif Hussain, Edith Diane Playford, Nick Ward, Sivakumar Balasubramanian, Etienne Burdet
Objective measurement is an essential part of the assessment process in neurological dysfunction such as stroke. However, current clinical scores are insensitive and based on subjective observation from experts. Technology provides an opportunity for enhanced accuracy and specificity of objective measurement. This study describes the use of an interactive force-sensitive table-top platform for the assessment of reach in post-stroke patients, admitted as part of a three week intensive upper limb training programme...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28812987/a-microneedle-functionalized-with-polyethyleneimine-and-nanotubes-for-highly-sensitive-label-free-quantification-of-dna
#3
Darius Saadat-Moghaddam, Jong-Hoon Kim
The accurate measure of DNA concentration is necessary for many DNA-based biological applications. However, the current methods are limited in terms of sensitivity, reproducibility, human error, and contamination. Here, we present a microneedle functionalized with polyethyleneimine (PEI) and single-walled carbon nanotubes (SWCNTs) for the highly sensitive quantification of DNA. The microneedle was fabricated using ultraviolet (UV) lithography and anisotropic etching, and then functionalized with PEI and SWCNTs through a dip coating process...
August 16, 2017: Sensors
https://www.readbyqxmd.com/read/28811587/comparisons-of-magnetic-charge-and-axial-charge-meson-cloud-distributions-in-the-pcqm
#4
X Y Liu, Z J Liu, K Khosonthongkee, A Limphirat, Y Yan
The meson cloud distributions in r-space are extracted from the nucleon electromagnetic and axial form factors which are derived in the perturbative chiral quark model. The theoretical results indicate that the magnetic charge and axial charge distributions of the three-quark core have the similar distributions in r-space, the magnetic charge distributions of the meson cloud and three-quark core are more or less in the same region and peak at distances of around 0.4 fm, which is in good agreement with the finding of works in the framework of chiral perturbation theory, but the axial charge meson cloud distributes mainly inside the three-quark core...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28810979/women-veterans-a-population-at-risk-for-fibromyalgia-the-associations-between-fibromyalgia-symptoms-and-quality-of-life
#5
Rita F D'Aoust, Alicia Gill Rossiter, Amanda Elliott, Ming Ji, Cecile Lengacher, Maureen Groer
BACKGROUND: The Institute of Federal Health Care recently published an executive summary from a round table discussion indicating that active duty and retired female military personnel are at high risk for adverse health outcomes unique to military service including complications related to post-traumatic stress disorder (PTSD), unreported sexual trauma, and musculoskeletal problems. In 2008, the Institute of Medicine began to review, evaluate, and summarize the literature on health outcomes in Gulf War-deployed and found sufficient evidence of a causal relationship with PTSD and suggestive evidence of an association with fibromyalgia (FM)...
July 2017: Military Medicine
https://www.readbyqxmd.com/read/28809703/motion-based-rapid-serial-visual-presentation-for-gaze-independent-brain-computer-interfaces
#6
Dong-Ok Won, Han-Jeong Hwang, Dong-Min Kim, Klaus-Robert Muller, Seong-Whan Lee
Most event-related potential (ERP)-based braincomputer interface (BCI) spellers primarily use matrix layouts, and generally require moderate eye movement for successful operation. The fundamental objective of this study is to enhance the perceptibility of target characters by introducing motion stimuli to classical rapid serial visual presentation (RSVP) spellers that do not require any eye movement, thereby applying them to paralyzed patients with oculomotor dysfunctions. To test the feasibility of the proposed motion-based RSVP paradigm, we implemented three RSVP spellers: i) fixed-direction motion (FM-RSVP), ii) random-direction motion (RM-RSVP), and iii) (the conventional) non-motion stimulation (NM-RSVP), and evaluated the effect of the three different stimulation methods on spelling performance...
August 11, 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28808494/severe-fibrosing-mediastinitis-with-atypical-presentation-effective-control-with-novel-therapeutic-approach
#7
Abdulaziz Uthman Joury, Ahmad Amer Al Boukai, Tarek Seifaw Kashour
Fibrosing mediastinitis (FM), also known as sclerosing mediastinitis, is an uncommon but serious disease involving the mediastinal structures. A high index of suspicion is essential to establish the diagnosis of FM and starting the appropriate therapy for patients. Here, we report a case of a young female who presented with chest symptoms and subsequently underwent different laboratory and radiologic investigations and an excisional biopsy. The findings of these investigations were consistent with the diagnosis of idiopathic FM...
July 2017: Annals of Thoracic Medicine
https://www.readbyqxmd.com/read/28803972/self-aggregation-behavior-of-hydrophobic-sodium-alginate-derivatives-in-aqueous-solution-and-their-application-in-the-nanoencapsulation-of-acetamiprid
#8
Xinyu Zhao, Jiacheng Li, Yuhong Feng, Gaobo Yu, Qingfeng Zhou, Furui He, Dunchao Xiao, Kai Chen, Lei Zhang
In this study, cholesteryl-grafted sodium alginate derivatives (CSAD) with different molecular weights were synthesized by esterification. The structure of CSAD was confirmed by FT-IR and (1)H NMR spectrometers. The effects of pH and CSAD polymer concentration on the self-assembled behavior and particle size of CSAD were investigated by fluorescence measurement (FM) and dynamic light scattering (DLS). In the presence of Ca(2+), the cholesteryl-grafted sodium alginate derivative was used for fabricating self-assembled nanoparticles that can effectively encapsulate the drug acetamiprid...
August 10, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28802792/fat-mass-fat-free-mass-and-resting-metabolic-rate-in-weight-stable-sleeve-gastrectomy-patients-compared-with-weight-stable-nonoperated-patients
#9
Luigi Schiavo, Giuseppe Scalera, Vincenzo Pilone, Gabriele De Sena, Antonio Iannelli, Alfonso Barbarisi
BACKGROUND: There is evidence that body composition and resting metabolic rate (RMR) in weight-stable patients after Roux-en-Y gastric bypass and duodenal switch is similar to that of nonoperated individuals within the same body mass index (BMI) interval. Currently, data concerning fat mass (FM), fat-free mass (FFM), and RMR on weight-stable patients after sleeve gastrectomy (SG) are lacking. OBJECTIVES: To assess FM, FFM, and RMR, in a selected and homogenous population of weight-stable SG patients (WSSG) and compare them with those obtained from healthy normal weight-stable nonoperated (WSNO) volunteers controls of similar sex, age, and BMI...
July 1, 2017: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/28800505/electrochemical-aptasensor-for-thrombin-using-co-catalysis-of-hemin-g-quadruplex-dnazyme-and-octahedral-cu2o-au-nanocomposites-for-signal-amplification
#10
Shuai Chen, Pin Liu, Kewen Su, Xuan Li, Zhen Qin, Wei Xu, Jun Chen, Chaorui Li, Jingfu Qiu
In this work, novel octahedral Cu2O-Au nanocomposites were synthesized and first applied in an electrochemical aptasensor to detect thrombin (TB) with the aid of a DNAzyme for signal amplification. The octahedral Cu2O-Au nanocomposites have not only simultaneously served as signal amplifying molecules but have also been utilized as an ideal loading platform to immobilize a large number of electroactive substances and recognition probes. Gold nanoparticles (AuNPs) were grown directly on the surface of the octahedral Cu2O nanocrystals, and the Cu2O-Au nanocomposites obtained had the advantages of large surface areas and excellent biocompatibilities...
August 5, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28799180/accuracy-of-octa-polar-bioelectrical-impedance-analysis-for-the-assessment-of-total-and-appendicular-body-composition-in-children-and-adolescents-with-hiv-comparison-with-dual-energy-x-ray-absorptiometry-and-air-displacement-plethysmography
#11
J A C de Castro, L R A de Lima, D A S Silva
BACKGROUND: Body composition analysis has been used to investigate fat mass (FM) and bone mineral content (BMC) in children and adolescents diagnosed with HIV. Investigating the validity of bioelectrical impedance analysis (BIA) is interesting with respect to testing useful techniques for monitoring body composition in children and adolescents in clinical practice. The present study aimed to determine the validity of body composition analysis by BIA compared to dual-energy X-ray absorptiometry (DXA) and air displacement plethysmography (ADP) in children and adolescents an HIV diagnosis...
August 10, 2017: Journal of Human Nutrition and Dietetics: the Official Journal of the British Dietetic Association
https://www.readbyqxmd.com/read/28798999/influence-of-immunostimulant-polysaccharides-nucleic-acids-and-bacillus-strains-on-the-innate-immune-and-acute-stress-response-in-turbots-scophthalmus-maximus-fed-soy-bean-and-wheat-based-diets
#12
V I Fuchs, J Schmidt, M J Slater, B H Buck, D Steinhagen
Immunostimulants are widely applied in aquaculture practice and may have beneficial effects on the immune system and physical functions allowing higher tolerance to stress. In the current study, the impact of four (i-iv) dietary active ingredients on the immune and stress response of turbot was examined in two experiments (I and II). A basal low fish meal (FM; 32%) diet was formulated and supplemented with (i) yeast β-glucan and mannan oligosaccharide (GM), (ii) alginic acid (AC), (iii) yeast nucleotides and RNA (NR), or (iv) Bacillus strains (BS)...
August 10, 2017: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/28798676/tradeoff-between-user-experience-and-bci-classification-accuracy-with-frequency-modulated-steady-state-visual-evoked-potentials
#13
Alexander M Dreyer, Christoph S Herrmann, Jochem W Rieger
Steady-state visual evoked potentials (SSVEPs) have been widely employed for the control of brain-computer interfaces (BCIs) because they are very robust, lead to high performance, and allow for a high number of commands. However, such flickering stimuli often also cause user discomfort and fatigue, especially when several light sources are used simultaneously. Different variations of SSVEP driving signals have been proposed to increase user comfort. Here, we investigate the suitability of frequency modulation of a high frequency carrier for SSVEP-BCIs...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28797850/advance-care-planning-in-palliative-care-for-people-with-intellectual-disabilities-a-systematic-review
#14
REVIEW
Hille Voss, Anique Vogel, Annemieke Ma Wagemans, Anneke L Francke, Job Fm Metsemakers, Annemie M Courtens, Anke Je de Veer
CONTEXT: Advance care planning (ACP) is defined as a person-centred, ongoing process of communication that facilitates patients' understanding, reflection and discussion of goals, values and preferences for future care. There is evidence for the general palliative care population that ACP increases compliance with patients' end-of-life preferences and improves quality of care near the end of life. OBJECTIVES: To gain insight into what is known about the use and effects of ACP in palliative care for people with intellectual disabilities (ID)...
August 7, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28796118/emotional-awareness-and-expression-therapy-cognitive-behavioral-therapy-and-education-for-fibromyalgia-a-cluster-randomized-controlled-trial
#15
Mark A Lumley, Howard Schubiner, Nancy A Lockhart, Kelley M Kidwell, Steven E Harte, Daniel J Clauw, David A Williams
Patients with FM experience increased lifetime levels of psychosocial adversity, trauma, and emotional conflict. To address these risk factors, we developed Emotion Awareness and Expression Therapy (EAET) and tested its benefits against an active control condition, FM Education, and against the field's gold standard intervention for FM, cognitive-behavioral therapy (CBT) for symptom management. Adults with FM (n = 230) formed 40 treatment groups, which were randomized to EAET, CBT, or Education and given eight, 90-min sessions...
August 8, 2017: Pain
https://www.readbyqxmd.com/read/28796017/sarcopenia-prevalence-and-impact-on-operative-and-oncologic-outcomes-in-the-multimodal-management-of-locally-advanced-esophageal-cancer
#16
Jessie A Elliott, Suzanne L Doyle, Conor F Murphy, Sinead King, Emer M Guinan, Peter Beddy, Narayanasamy Ravi, John V Reynolds
OBJECTIVE: The aim of this article was to study the prevalence and significance of sarcopenia in the multimodal management of locally advanced esophageal cancer (LAEC), and to assess its independent impact on operative and oncologic outcomes. SUMMARY OF BACKGROUND DATA: Sarcopenia in cancer may confer negative outcomes, but its prevalence and impact on modern multimodal regimens for LAEC have not been systematically studied. METHODS: Two hundred fifty-two consecutive patients were studied...
August 8, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28795936/relationship-of-health-literacy-of-heart-failure-patients-and-their-family-members-on-heart-failure-knowledge-and-self-care
#17
Jia-Rong Wu, Carolyn M Reilly, James Holland, Melinda Higgins, Patricia C Clark, Sandra B Dunbar
We explored the relationships among patients' and family members' (FMs) health literacy, heart failure (HF) knowledge, and self-care behaviors using baseline data from HF patients and their FMs ( N = 113 pairs) in a trial of a self-care intervention. Measures included Rapid Estimate of Adult Literacy in Medicine, Atlanta HF Knowledge Test, a heart failure Medication Adherence Scale, and sodium intake (24-hr urine and 3-day food record). Patients with low health literacy (LHL) were more likely to have lower HF knowledge ( p < ...
February 2017: Journal of Family Nursing
https://www.readbyqxmd.com/read/28795576/proximity-band-structure-and-spin-textures-on-both-sides-of-topological-insulator-ferromagnetic-metal-interface-and-their-charge-transport-probes
#18
Juan Manuel Marmolejo-Tejada, Kapildeb Dolui, Predrag Lazić, Po-Hao Chang, Søren Smidstrup, Daniele Stradi, Kurt Stokbro, Branislav K Nikolić
The control of recently observed spintronic effects in topological-insulator/ferromagnetic-metal (TI/FM) heterostructures is thwarted by the lack of understanding of band structure and spin textures around their interfaces. Here we combine density functional theory with Green's function techniques to obtain the spectral function at any plane passing through atoms of Bi2Se3 and Co or Cu layers comprising the interface. Instead of naively assumed Dirac cone gapped by the proximity exchange field spectral function, we find that the Rashba ferromagnetic model describes the spectral function on the surface of Bi2Se3 in contact with Co near the Fermi level EF(0), where circular and snowflake-like constant energy contours coexist around which spin locks to momentum...
August 16, 2017: Nano Letters
https://www.readbyqxmd.com/read/28792452/complexes-of-oligoribonucleotides-with-d-mannitol-inhibit-hemagglutinin-glycan-interaction-and-suppress-influenza-a-virus-h1n1-a-fm-1-47-infectivity-in-vitro
#19
Nataliia Melnichuk, Larisa Semernikova, Zenoviy Tkachuk
The influenza virus hemagglutinin (HA) mediates both receptor (glycan) binding and membrane fusion for cell entry and has been the basis for subtyping influenza viruses. The oligoribonucleotides-d-mannitol (ORNs-d-M) complexes possess an anti-influenza activity in vitro and in vivo. In the present studies, we have found that ORNs-d-M interferes with hemagglutinin (HA)-glycan interaction and suppress viral infection in host cells. HA-glycan interactions were evaluated to indirectly quantify the amount of influenza virus titer by an agglutination assay...
August 9, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28791744/assessment-of-the-imprinting-efficiency-of-an-imide-with-a-stoichiometric-pyridine-based-functional-monomer-in-precipitation-polymerisation
#20
K Fremielle Lim, Andrew J Hall, Stefania Lettieri, Clovia I Holdsworth
The efficiency of the stoichiometric non-covalent imprinting of the imide 2,3,5-tri-O-acetyluridine (TAU) with 2,6-bis(acrylamido)pyridine (BAAPy) as functional monomer due to their strong donor-acceptor-donor/acceptor-donor-acceptor (DAD/ADA) hydrogen bond array interaction has been evaluated by bulk imprinting. This study is the first to investigate the imprinting and template rebinding efficiencies of the TAU/BAAPy molecularly imprinted polymeric (MIP) system prepared by precipitation polymerisation. We found that the stoichiometric 1:1 T:FM ratio has not been maintained in precipitation polymerisation and an optimal TAU:BAAPy ratio of 1:2...
August 9, 2017: Journal of Molecular Recognition: JMR
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