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C Deffrennes, M De Clercq, L Vallée, M-P Lemaître
Problems in mathematics are a frequent major complaint in neuropediatric departments, for which there are two explanatory theoretical models: the hypothesis of a genetic and modular origin (with a number sense deficit) and a multidetermined origin. The purpose of this paper is to review the mathematical difficulties described in Turner syndrome and Fragile X syndrome, because a specific mathematical disorder is usually reported in these populations, supporting the existence of a number sense. Analysis of the literature reveals highly variable cognitive phenotypes in these populations, especially regarding mathematical abilities...
March 14, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Zihao Wang, Yifan Ma, YanXiang Wang, Yutong Liu, Kai Chen, Zihan Wu, Shuang Yu, Yuan Yuan, Changsheng Liu
Poly (glycerol sebacate) (PGS), a tough elastomer, has been widely explored in tissue engineering due to the desirable mechanical properties and biocompatibility. However, the complex curing procedure (high temperature and vacuum) and limited hydrophilicity (∼90° of wetting angle) greatly impede its functionalities. To address these challenges, a urethane-based low-temperature setting, PEGylated PGS bioelastomer was developed with and without solvent. By simultaneously tailoring PEG and hexamethylene diisocyanate (HDI) contents, the elastomers X-P-mUs (X referred to the PEG content and m referred to HDI content) with a broad ranging mechanical properties and customized hydrophilicity were constructed...
March 13, 2018: Acta Biomaterialia
S Jin, E Hsieh, L Peng, C Yu, Y Wang, C Wu, Q Wang, M Li, X Zeng
This study is the first meta-analysis investigating the pooled incidence rates of fractures among patients with RA. Our results demonstrated that this population is at high risk of overall and fragility fractures. Consideration of vertebral imaging and RA-specific risk factor assessment may aid in fracture prevention for this vulnerable group. INTRODUCTION: This systematic review and meta-analysis aims to estimate the incidence of fractures (overall and fragility) in patients with rheumatoid arthritis (RA)...
March 15, 2018: Osteoporosis International
Memi Muto, Wataru Kamitani, Mizuki Sakai, Minato Hirano, Shintaro Kobayashi, Hiroaki Kariwa, Kentaro Yoshii
Tick-borne encephalitis virus (TBEV) causes severe neurological disease, but the pathogenetic mechanism is unclear. The conformational structure of the 3'-untranslated region (UTR) of TBEV is associated with its virulence. We tried to identify host proteins interacting with the 3'-UTR of TBEV. Cellular proteins of HEK293T cells were co-precipitated with biotinylated RNAs of the 3'-UTR of low- and high-virulence TBEV strains and subjected to mass spectrometry analysis. Fifteen host proteins were found to bind to the 3'-UTR of TBEV, four of which- cold shock domain containing-E1 (CSDE1), spermatid perinuclear RNA binding protein (STRBP), fragile X mental retardation protein (FMRP), and interleukin enhancer binding factor 3 (ILF3)-bound specifically to that of the low-virulence strain...
March 12, 2018: Virus Research
Audra Sterling
Purpose: Some boys with autism spectrum disorder (ASD) and boys with fragile X syndrome and a codiagnosis of ASD (FXS+ASD) have impairments in expressive grammatical abilities. The current study compared grammatical performance in these 2 groups of school-age boys. Method: Thirty-seven boys similar on mean length of utterance participated in the current study (FXS: n = 19, ASD: n = 18). Participants completed an ASD assessment, nonverbal IQ testing, and conversation language samples...
March 14, 2018: Journal of Speech, Language, and Hearing Research: JSLHR
B Lakshmanna, N Jayaraju, T Lakshmi Prasad, G Sreenivasulu, K Nagalakshmi, M Pramod Kumar, M Madakka
X-ray diffraction (XRD), Scanning Electron Microscope-Energy Dispersive Spectroscopy (SEM-EDS), and Fourier Transform Infrared Spectroscopy (FT-IR), were applied to analyze the organic matrix of two Molluscan shells . The Mollusca shells are mineral structure and calcium carbonate crystallized as aragonite. The FT-IR spectra showed Alkyl Halide, Alkanes, Alcohols, Amides, Aromatic, and Hydroxyl groups in the organic matrix of the whole (organic and mineral) Molluscan shells. SEM images of particles of the two Molluscan shells at different magnifications were taken...
February 2018: Data in Brief
L Bell, C Oliver, A Wittkowski, J Moss, D Hare
BACKGROUND: Catatonia-like presentations in people with autism have been increasingly recognised within research and diagnostic guidelines. The recently developed Attenuated Behaviour Questionnaire has identified that attenuated behaviour [autistic catatonia] is very prevalent in people with autism spectrum disorders (ASDs) and associated with repetitive behaviour. In the current study, we investigated attenuated behaviour within two genetic syndromes associated with ASD and examined ASD and repetitive behaviour as longitudinal predictors of attenuated behaviour...
March 13, 2018: Journal of Intellectual Disability Research: JIDR
Ang Qiao, Thomas D Bennett, Haizheng Tao, Andraž Krajnc, Gregor Mali, Cara M Doherty, Aaron W Thornton, John C Mauro, G Neville Greaves, Yuanzheng Yue
Glass-forming ability (GFA) is the ability of a liquid to avoid crystallization during cooling. Metal-organic frameworks (MOFs) are a new class of glass formers ( 1 - 3 ), with hitherto unknown dynamic and thermodynamic properties. We report the discovery of a new series of tetrahedral glass systems, zeolitic imidazolate framework-62 (ZIF-62) [Zn(Im2- x bIm x )], which have ultrahigh GFA, superior to any other known glass formers. This ultrahigh GFA is evidenced by a high viscosity η (105 Pa·s) at the melting temperature T m , a large crystal-glass network density deficit (Δρ/ρg )network , no crystallization in supercooled region on laboratory time scales, a low fragility ( m = 23), an extremely high Poisson's ratio (ν = 0...
March 2018: Science Advances
Feng Zhao, Matthew Kirby, Anuradha Roy, Yizhong Hu, X Edward Guo, Xiaodu Wang
Understanding the relationship between the microstructure and mechanical function of trabecular bone is critical for prediction and prevention of bone fragility fractures. However, a detailed understanding of the structural design of trabecular microarchitecture is still missing. This study hypothesized that there exists a commonality in the underlying probabilistic distributions of microstructural features of trabecular bones, whereas the microstructural differences among individuals are primarily describe by a set of scalar parameters...
March 10, 2018: Bone
Mitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto, Masaaki Shiina, Hazrat Belal, Souichi Mukaida, Satoko Kumada, Atsushi Sato, Ayelet Zerem, Tally Lerman-Sagie, Dorit Lev, Huey Yin Leong, Yoshinori Tsurusaki, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Kazuhiro Ogata, Hirotomo Saitsu, Naomichi Matsumoto
OBJECTIVE: The cytoplasmic fragile X mental retardation 1 interacting proteins 2 (CYFIP2) is a component of the WAVE regulatory complex, which is involved in actin dynamics. An obvious association of CYFIP2 variants with human neurological disorders has never been reported. Here, we identified de novo hotspot CYFIP2 variants in neurodevelopmental disorders and explore the possible involvement of the CYFIP2 mutants in the WAVE signaling pathway. METHODS: We performed trio-based whole exome sequencing (WES) in 210 families and case-only WES in 489 individuals with epileptic encephalopathies...
March 13, 2018: Annals of Neurology
Stephanie S G Brown, Shinjini Basu, Heather C Whalley, Peter C Kind, Andrew C Stanfield
The FMR1 premutation confers a 40-60% risk for males of developing a neurodegenerative disease called the Fragile X-associated Tremor Ataxia Syndrome (FXTAS). FXTAS is a late-onset disease that primarily involves progressive symptoms of tremor and ataxia, as well as cognitive decline that can develop into dementia in some patients. At present, it is not clear whether changes to brain function are detectable in motor regions prior to the onset of frank symptomatology. The present study therefore aimed to utilize an fMRI motor task for the first time in an asymptomatic premutation population...
2018: NeuroImage: Clinical
Rebecca Lyndsey Hardiman, Peter McGill
Fragile X Syndrome (FXS) appears to be associated with an increased risk for engaging in challenging behaviour, particularly self-injury, relative to those with mixed aetiology learning disabilities. Such behavioural issues are reported to be of high concern for those providing support. As such, this systematic review aimed to gain further epidemiological data regarding challenging behaviours in individuals with FXS, including: self-injurious behaviour (SIB), hand-biting as a specific topography of SIB, aggression and property destruction...
March 7, 2018: Research in Developmental Disabilities
Ana M Rodrigues, Mónica Eusébio, Maria José Santos, Nélia Gouveia, Viviana Tavares, Pedro S Coelho, Jorge M Mendes, Jaime C Branco, Helena Canhão
Using a large population database, we showed that fragility fractures were highly prevalent in senior women and were associated with significant physical disability. However, treatment rates were low because osteoporosis treatment was not prescribed or not agreed to by the majority of women with prevalent fragility fractures. PURPOSE: The purpose of the study is to estimate prevalence of fragility fractures (FF), risk factors, and treatment rates in senior women and to assess impact of FF on physical function and quality of life...
March 7, 2018: Archives of Osteoporosis
Carlo Alberto Artusi, Ashar Farooqi, Alberto Romagnolo, Luca Marsili, Roberta Balestrino, Leonard L Sokol, Lily L Wang, Maurizio Zibetti, Andrew P Duker, George T Mandybur, Leonardo Lopiano, Aristide Merola
BACKGROUND: In uncommon tremor disorders, clinical efficacy and optimal anatomical targets for deep brain stimulation (DBS) remain inadequately studied and insufficiently quantified. METHODS: We performed a systematic review of and Relevant articles were identified using the following keywords: "tremor", "Holmes tremor", "orthostatic tremor", "multiple sclerosis", "multiple sclerosis tremor", "neuropathy", "neuropathic tremor", "fragile X-associated tremor/ataxia syndrome", and "fragile X...
March 6, 2018: Journal of Neurology
N Segaud, I Legroux, M Hazzan, C Noel, B Cortet
INTRODUCTION: In renal transplant patients, bone loss may be related to the drugs patients are taking but also to their past history of chronic kidney disease. The purpose of this study was to assess changes in BMD 2 years after an initial assessment (performed 9 months post transplantation) and the factors associated with these changes. METHODS: This longitudinal study included patients who had undergone a renal transplantation between 2005 and 2011, and who were followed up at the Lille Regional University Hospital...
March 2, 2018: Osteoporosis International
Sarah Nelson, Andrea McDuffie, Amy Banasik, Robyn Tempero Feigles, Angela John Thurman, Leonard Abbeduto
This study examined the impact of a distance-delivered parent-implemented narrative language intervention on the use of inferential language during shared storytelling by school-aged boys with fragile X syndrome, an inherited neurodevelopmental disorder. Nineteen school-aged boys with FXS and their biological mothers participated. Dyads were randomly assigned to an intervention or a treatment-as-usual comparison group. Transcripts from all pre- and post-intervention sessions were coded for child use of prompted and spontaneous inferential language coded into various categories...
March 2018: Journal of Communication Disorders
Pascale Khairallah, Thomas L Nickolas
CKD mineral and bone disease is a common complication of kidney disease, and it affects the majority of patients with moderate to severe CKD. Recently, prospective studies have shown that measurement of bone mineral density by dual energy x-ray absorptiometry predicts incident fracture, providing nephrologists the ability to risk classify patients for skeletal fragility and targeted antifracture strategies for the first time. Furthermore, an expanding body of literature and anecdotal evidence suggest that pharmacologic agents used to treat osteoporosis in the general population can be safely used in patients with CKD...
February 27, 2018: Clinical Journal of the American Society of Nephrology: CJASN
Daniela Neuhofer, Olivier Lassalle, Olivier Manzoni
We investigated how metabotropic Acetylcholine receptors control excitatory synaptic plasticity in the mouse nucleus accumbens core. Pharmacological and genetic approaches revealed that M1 mAChRs trigger multiple and interacting forms of synaptic plasticity. As previously described in the dorsal striatum, moderate pharmacological activation of M1 mAChR potentiated postsynaptic NMDARs. The M1-potentiation of NMDAR masked a previously unknown coincident TRPV1-mediated long-term depression (LTD). In addition, strong pharmacological activation of M1 mAChR induced canonical retrograde LTD, mediated by presynaptic CB1R...
February 28, 2018: ACS Chemical Neuroscience
Tara Arbab, Francesco P Battaglia, Cyriel M A Pennartz, Conrado A Bosman
Neuronal networks can synchronize their activity through excitatory and inhibitory connections, which is conducive to synaptic plasticity. This synchronization is reflected in rhythmic fluctuations of the extracellular field. In the hippocampus, theta and gamma band LFP oscillations are a hallmark of the processing of spatial information and memory. Fragile X syndrome (FXS) is an intellectual disability and the most common genetic cause of autism spectrum disorder (Belmonte and Bourgeron, 2006). Here, we investigated how neuronal network synchronization in the mouse hippocampus is compromised by the Fmr1 mutation that causes FXS (Santos et al...
February 24, 2018: Neurobiology of Disease
Mathieu Di Miceli, Benjamin Gronier
Background Metadoxine is composed of pyroglutamic acid and vitamin B6. Administrations of metadoxine are indicated in cases of acute alcohol intoxication or in chronic alcoholism. Objectives To reference all available clinical trials investigating the effects of metadoxine on humans. A focus was put on alcohol intoxication and chronic alcoholism, alcohol abstinence and survival rates. Adverse events were also taken into consideration. Finally, potential roles of metadoxine in treating disorders of the central nervous system will be assessed...
February 26, 2018: Reviews on Recent Clinical Trials
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