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https://www.readbyqxmd.com/read/28730825/the-implication-of-ampa-receptor-in-synaptic-plasticity-impairment-and-intellectual-disability-in-fragile-x-syndrome
#1
G-R Cheng, X-Y Li, Y-D Xiang, D Liu, S M McClintock, Y Zeng
Fragile X syndrome (FXS) is the most frequently inherited form of intellectual disability and prevalent single-gene cause of autism. A priority of FXS research is to determine the molecular mechanisms underlying the cognitive and social functioning impairments in humans and the FXS mouse model. Glutamate ionotropic alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptors (AMPARs) mediate a majority of fast excitatory neurotransmission in the central nervous system and are critically important for nearly all aspects of brain function, including neuronal development, synaptic plasticity, and learning and memory...
July 18, 2017: Physiological Research
https://www.readbyqxmd.com/read/28730199/the-amorphous-state-first-principles-derivation-of-the-gordon-taylor-equation-for-direct-prediction-of-the-glass-transition-temperature-of-mixtures-estimation-of-the-crossover-temperature-of-fragile-glass-formers-physical-basis-of-the-rule-of-2-3
#2
Peter J Skrdla, Philip D Floyd, Philip C Dell'Orco
Predicting the glass transition temperature (Tg) of mixtures has applications that span across industries and scientific disciplines. By plotting experimentally determined Tg values as a function of the glass composition, one can usually apply the Gordon-Taylor (G-T) equation to determine the slope, k, which subsequently can be used in Tg predictions. Traditionally viewed as a phenomenological/empirical model, this work proposes a physical basis for the G-T equation. The proposed equations allow for the calculation of k directly and, hence, they determine/predict the Tg values of mixtures algebraically...
July 21, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28729709/sex-based-differences-in-the-association-between-body-composition-and-incident-fracture-risk-in-koreans
#3
Jung Hee Kim, A Ram Hong, Hyung Jin Choi, Eu Jeong Ku, Nam H Cho, Chan Soo Shin
The relative contribution of lean mass and fat mass on bone health is inconclusive. We investigated the relative contributions of lean and fat masses on fragility fracture risk in Korean men and women. This was an ongoing prospective community-dwelling cohort study at Ansung beginning in 2001, which included 2,189 men and 2,625 women over 40 years old. Study subjects were classified into the following four groups according to lean mass (LM)/height(2) and percentage fat mass (PF). Clinical fragility fracture events were assessed at baseline and biennially using self-reported questionnaires...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729046/bone-mineralization-and-fracture-risk-assessment-in-the-pediatric-population
#4
Halley Wasserman, Catherine M Gordon
Identifying children most susceptible to clinically significant fragility fractures (low trauma fractures or vertebral compression fractures) or recurrent fractures is an important issue facing general pediatricians and subspecialists alike. Over the last decade, several imaging technologies, including dual-energy X-ray absorptiometry and peripheral quantitative computed tomography, have become useful to identify abnormal bone mineralization in children and in adolescents. This review aimed to summarize the latest literature on the utility of these modalities as they pertain to use in pediatrics...
July 17, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28729045/fracture-risk-assessment-from-population-to-individual
#5
Tuan V Nguyen, John A Eisman
Fracture caused by osteoporosis remains a major public health burden on contemporary populations because fracture is associated with a substantial increase in the risk of mortality. Early identification of high-risk individuals for prevention is a priority in osteoporosis research. Over the past decade, few risk prediction models, including the Garvan Fracture Risk Calculator (Garvan) and FRAX(®), have been developed to provide absolute (individualized) risk of fracture. Recent validation studies suggested that the area under the receiver operating characteristic curve in fracture discrimination ranged from 0...
July 17, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28728902/role-of-mirnas-in-development-and-disease-lessons-learnt-from-small-organisms
#6
REVIEW
Swati Chandra, Divya Vimal, Divya Sharma, Vipin Rai, Subash Chandra Gupta, D Kar Chowdhuri
MicroRNAs (miRNAs) constitute a class of small (21-24 nucleotides) non-coding RNAs that regulate gene expression at the post-transcriptional level. Caenorhabditis elegans, Drosophila melanogaster, and many other small organisms have been instrumental in deciphering the biological functions of miRNAs. While some miRNAs from small organisms are highly conserved across the taxa, others are organism specific. The miRNAs are known to play a crucial role during development and in various cellular functions such as cell survival, cell proliferation, and differentiation...
July 17, 2017: Life Sciences
https://www.readbyqxmd.com/read/28728858/-dress-complicated-by-hemophagocytic-lymphohistiocytosis-in-an-infant-treated-for-congenital-toxoplasmosis
#7
S Rioualen, J Dufau, C Flatres, P Lavenant, L Misery, J-M Roué
BACKGROUND: Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe disease that may be complicated by hemophagocytic lymphohistiocytosis but this is rarely described in children. PATIENTS AND METHODS: We report the case of a 5-week old infant hospitalized in a pediatric intensive care unit for hemophagocytic lymphohistiocytosis with prolonged fever, splenomegaly, cytopenia, fibrinogen≤1.5g/L, ferritin≥500μg/L, and soluble IL-2 receptor≥2400U/mL...
July 17, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28728841/redox-imbalance-in-a-model-of-rat-mimicking-hutchinson-gilford-progeria-syndrome
#8
Manoj Kumar Chaudhary, Sandeep Singh, Syed Ibrahim Rizvi
Although several etiological factors contribute to the complexity of the aging process, the ultimate component of macromolecular damage and consequent cell death involves the altered redox balance inclined towards increased ROS production and/or decreased antioxidant protection. Given that, the chronic dihydrotachysterol (DHT) intoxication in rats induce Hutchinson Gilford progeria like syndrome, the present study provides the evidence for altered redox balance as evidenced by alteration in parameters of oxidative stress in blood plasma and erythrocytes including MDA, GSH, FRAP AOPP PMRS, AGEs, AChE and osmotic fragility which substantiate the suitability of the model for aging studies...
July 17, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28727344/-to-where-and-until-when-handle-the-osteoporosis
#9
Brigitte Uebelhart, Serge Ferrari
Estrogen replacement therapy, selective modulators of the estrogen receptor (SERMs), bisphophonates and denosumab are antiresorptive therapies which can be used for several years. Teriparatide is still the only bone forming agent available, its use is limited to 24 months. Except the absence of new fragility fractures, there is no well defined target in the treatment of osteoporosis. Nevertheless persistence of high fracture risk (prevalent fractures and/or low BMD) on therapy indicates to maintain or intensify the treatment...
April 19, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28727340/-phosphocalcic-anomalies-and-bone-fragility-keys-for-the-general-practitioner
#10
Bérengère Aubry-Rozier, Delphine Stoll, Elena Gonzalez-Rodriguez
How to recognize secondary causes of bone fragility in relation with an abnormal calcium and phosphate laboratory in general practice ? Through clinical cases presentations we will discuss the calcium and phosphate abnormalities which can be related to bone fragility and for which a-specific approach must be proposed. It can be abnormal results of calcium, phosphate or vitamin D. Some causes are frequent, others are iatrogenic, and others are related to a rare disease sometimes of genetic cause which consequences are more important than expected...
April 19, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28726572/successful-forearm-prosthesis-fitting-in-a-patient-with-epidermolysis-bullosa-dystrophica-case-report
#11
Carl Verduyn, Marie-Anne Morren, Marguerite Stas, Friedl Sinnaeve, Katarina Segers, Carlotte Kiekens
BACKGROUND: Epidermolysis bullosa dystrophica is a rare dermatological disease characterized by extreme skin fragility and elevated risk of developing a squamous cell carcinoma. In some cases, amputation of a limb is necessary. Case description and methods: A 37-year-old man with recessive, severe generalized epidermolysis bullosa dystrophica developed a squamous cell carcinoma on the right forearm requiring a below-elbow amputation. Preoperative advice concerning indication and level of amputation was given...
July 1, 2017: Prosthetics and Orthotics International
https://www.readbyqxmd.com/read/28724762/stability-of-cucumber-necrosis-virus-at-the-quasi-six-fold-axis-affects-zoospore-transmission
#12
Michael B Sherman, Kishore Kakani, D'Ann Rochon, Wen Jiang, Neil R Voss, Thomas J Smith
Cucumber necrosis virus (CNV) is a member of the genus Tombusvirus and has a monopartite positive-sense RNA genome. CNV is transmitted in nature via zoospores of the fungus, Olpidium bornovanus As with other members of the Tombusvirus genus, the CNV capsid swells when exposed to alkaline pH and EDTA. We previously demonstrated that a P73G mutation blocks the virus from zoospore transmission while not significantly affecting replication in plants (1). P73 lies immediately adjacent to a putative zinc binding site (2) that is formed by three icosahedrally related His residues in the N-termini of the C subunit at the quasi 6-fold axes...
July 19, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28722691/structural-basis-of-bone-fragility-in-young-subjects-with-inflammatory-bowel-disease-a-high-resolution-pqct-study-of-the-swiss-ibd-cohort-sibdc
#13
Jessica Pepe, Sophie Zawadynski, Francois R Herrmann, Pascal Juillerat, Pierre Michetti, Sylvie Ferrari-Lacraz, Dominique Belli, Osman Ratib, René Rizzoli, Thierry Chevalley, Serge L Ferrari
BACKGROUND: The onset of inflammatory bowel disease (IBD) during childhood/adolescence compromises peak bone mass acquisition and predisposes to fractures later in life. However, the structural basis for bone fragility in young adults with IBD remains unknown. METHODS: One hundred two young subjects from the Swiss IBD cohort were included. Areal bone mineral density (aBMD) at distal radius, hip, and spine as well as morphometric vertebral fractures were assessed using dual-energy x-ray absorptiometry technique...
August 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28722552/evaluation-of-regional-project-to-strengthen-national-health-research-systems-in-four-countries-in-west-africa-lessons-learned
#14
Issiaka Sombié, Jude Aidam, Gabriela Montorzi
BACKGROUND: Since the Commission on Health Research for Development (COHRED) published its flagship report, more attention has been focused on strengthening national health research systems (NHRS). This paper evaluates the contribution of a regional project that used a participatory approach to strengthen NHRS in four post-conflict West African countries - Guinea-Bissau, Liberia, Sierra Leone and Mali. METHODS: The data from the situation analysis conducted at the start of the project was compared to data from the project's final evaluation, using a hybrid conceptual framework built around four key areas identified through the analysis of existing frameworks...
July 12, 2017: Health Research Policy and Systems
https://www.readbyqxmd.com/read/28722023/potential-involvement-of-impaired-bkca-channel-function-in-sensory-defensiveness-and-some-behavioral-disturbances-induced-by-unfamiliar-environment-in-a-mouse-model-of-fxs
#15
Maria Isabel Carreno-Munoz, Fabienne Martins, Maria Carmen Medrano, Elisabetta Aloisi, Susanna Pietropaolo, Corentin Dechaud, Enejda Subashi, Guillaume Bony, Melanie Ginger, Abdelmalik Moujahid, Andreas Frick, Xavier Leinekugel
In Fragile X Syndrome (FXS), sensory-hypersensitivity and impaired habituation is thought to result in attention overload and various behavioral abnormalities in reaction to the excessive and remanent salience of environment-features that would normally be ignored. This phenomenon, termed sensory defensiveness, has been proposed as the potential cause of hyperactivity, hyperarousal, and negative reactions to changes in routine that are often deleterious for FXS patients. However, the lack of tools for manipulating sensory-hypersensitivity has not allowed the experimental testing required to evaluate the relevance of this hypothesis...
July 19, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28721495/diversity-and-survival-of-artificial-lifeforms-under-sedimentation-and-random-motion
#16
Nicolas Glade, Olivier Bastien, Pascal Ballet
Cellular automata are often used to explore the numerous possible scenarios of what could have occurred at the origins of life and before, during the prebiotic ages, when very simple molecules started to assemble and organise into larger catalytic or informative structures, or to simulate ecosystems. Artificial self-maintained spatial structures emerge in cellular automata and are often used to represent molecules or living organisms. They converge generally towards homogeneous stationary soups of still-life creatures...
July 18, 2017: Theory in Biosciences, Theorie in Den Biowissenschaften
https://www.readbyqxmd.com/read/28720740/-tentorial-dural-arteriovenous-fistula-successfully-treated-with-transvenous-embolization-using-a-double-catheterization-technique-through-venous-drainage-a-case-report
#17
Akira Yamakawa, Atsushi Fujita, Hirotomo Tanaka, Mitsuru Ikeda, Masashi Morikawa, Eiji Kohmura
BACKGROUND: Tentorial dural arteriovenous fistulas(dAVFs)are a rare clinical entity accounting for less than 10% of all intracranial dAVFs. Because these lesions are characterized by high hemorrhagic risk, aggressive treatment should be considered. Although the number of reported cases treated with endovascular transarterial embolization(TAE)using glue has been increasing, little is known about the transvenous approach. Here, we report the case of a patient with a tentorial dAVF who was successfully treated with transvenous embolization(TVE)through venous drainage using a double catheterization technique...
July 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28720661/stabilization-of-f-actin-by-tropomyosin-isoforms-regulates-the-morphology-and-mechanical-behavior-of-red-blood-cells
#18
Zhenhua Sui, David S Gokhin, Roberta B Nowak, Xinhua Guo, Xiuli An, Velia M Fowler
The short F-actins in the red blood cell (RBC) membrane skeleton are coated along their lengths by an equimolar combination of two tropomyosin isoforms, Tpm1.9 and Tpm3.1. We hypothesized that tropomyosins' ability to stabilize F-actin regulates RBC morphology and mechanical properties. To test this, we examined mice with a targeted deletion in alternatively spliced exon 9d of Tpm3 (Tpm3/9d(-/-) ), which leads to absence of Tpm3.1 in RBCs along with a compensatory increase in Tpm1.9 of sufficient magnitude to maintain normal total tropomyosin content...
July 18, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28720489/simplified-membrane-feeding-of-bloodsucking-triatomines-hemiptera-reduviidae
#19
Glennyha F Duarte, Dayane B Macedo, Christian Luz
Laboratory-reared hematophagous triatomines that are the main vectors of Chagas disease are generally fed on small vertebrates or on blood-filled membrane devices. Such devices allow a large-scale rearing of these vectors without sacrificing host animals but are almost always expensive, fragile, not easily purchased, and usually difficult to use because they need to be sterilized before and carefully cleaned after each feeding. We present here a simple device to feed triatomines that is composed of a circular series of alternating short pieces of stainless steel and silicon tubing connected to a pump that circulates water heated at 50° C in a water bath...
July 15, 2017: Acta Tropica
https://www.readbyqxmd.com/read/28720156/fmr1-cgg-repeat-expansion-mutation-detection-and-linked-haplotype-analysis-for-reliable-and-accurate-preimplantation-genetic-diagnosis-of-fragile-x-syndrome
#20
Indhu-Shree Rajan-Babu, Mulias Lian, Felicia S H Cheah, Min Chen, Arnold S C Tan, Ethiraj B Prasath, Seong Feei Loh, Samuel S Chong
Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification...
July 19, 2017: Expert Reviews in Molecular Medicine
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