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https://www.readbyqxmd.com/read/29792283/repurposing-available-drugs-for-neurodevelopmental-disorders-the-fragile-x-experience
#1
REVIEW
Michael R Tranfaglia, Clare Thibodeaux, Daniel J Mason, David Brown, Ian Roberts, Richard Smith, Tim Guilliams, Patricia Cogram
Many available drugs have been repurposed as treatments for neurodevelopmental disorders. In the specific case of fragile X syndrome, many clinical trials of available drugs have been conducted with the goal of disease modification. In some cases, detailed understanding of basic disease mechanisms has guided the choice of drugs for clinical trials, and several notable successes in fragile X clinical trials have led to common use of drugs such as minocycline in routine medical practice. Newer technologies like Disease-Gene Expression Matching (DGEM) may allow for more rapid identification of promising repurposing candidates...
May 4, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29785777/paradoxical-effect-of-baclofen-on-social-behavior-in-the-fragile-x-syndrome-mouse-model
#2
Shimriet Zeidler, Andreea S Pop, Israa A Jaafar, Helen de Boer, Ronald A M Buijsen, Celine E F de Esch, Ingeborg Nieuwenhuizen-Bakker, Renate K Hukema, Rob Willemsen
INTRODUCTION: Fragile X syndrome (FXS) is a common monogenetic cause of intellectual disability, autism spectrum features, and a broad range of other psychiatric and medical problems. FXS is caused by the lack of the fragile X mental retardation protein (FMRP), a translational regulator of specific mRNAs at the postsynaptic compartment. The absence of FMRP leads to aberrant synaptic plasticity, which is believed to be caused by an imbalance in excitatory and inhibitory network functioning of the synapse...
April 26, 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29781519/assessment-of-vertebral-microarchitecture-in-overt-and-mild-cushing-s-syndrome-using-trabecular-bone-score
#3
Helene Vinolas, Virginie Grouthier, Nadia Mehsen-Cetre, Amandine Boisson, Renaud Winzenrieth, Thierry Schaeverbeke, Charles Mesguich, Laurence Bordenave, Antoine Tabarin
OBJECTIVE: Osteoporotic fractures associated with Cushing's syndrome (CS) may occur despite normal bone mineral density (BMD). Few studies have described alterations in vertebral microarchitecture in glucocorticoid-treated patients and during CS. Trabecular bone score (TBS) estimates trabecular microarchitecture from dual-energy X-ray absorptiometry acquisitions. Our aim was to compare vertebral BMD and TBS in patients with overt CS and mild autonomous cortisol secretion (MACE), and following cure of overt CS...
May 21, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29781139/early-gesture-use-in-fragile-x-syndrome
#4
L Rague, K Caravella, B Tonnsen, J Klusek, J Roberts
BACKGROUND: Emerging evidence suggests that children with fragile X syndrome (FXS) exhibit abnormal gesture use early in development, although few studies have investigated the emergence of gesture use in this population or the impact of autism spectrum disorder (ASD) features on these behaviours. The present study examined the longitudinal development of gesture use in infants with FXS relative to low-risk controls and infant siblings of children with ASD (high-risk siblings), with the goal of establishing potentially unique patterns of gesture development in infants with FXS and understanding the relative impact of ASD symptom severity on these patterns...
May 20, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29778627/impaired-spatial-processing-in-a-mouse-model-of-fragile-x-syndrome
#5
Mohamed Ghilan, Luis Bettio, Athena Noonan, Patricia S Brocardo, Joana Gil-Mohapel, Brian R Christie
Fragile X syndrome (FXS) is the most common form of inherited intellectual impairment. The Fmr1-/y mouse model has been previously shown to have deficits in context discrimination tasks but not in the elevated plus-maze. To further characterize this FXS mouse model and determine whether hippocampal-mediated behaviours are affected in these mice, dentate gyrus (DG)-dependent spatial processing and Cornu Ammonis 1 (CA1)-dependent temporal order discrimination tasks were evaluated. In agreement with previous findings of long-term potentiation deficits in the DG of this transgenic model of FXS, the results reported here demonstrate that Fmr1-/y mice perform poorly in the DG-dependent metric change spatial processing task...
May 17, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29776756/sex-hormone-binding-globulin-is-a-biomarker-associated-with-nonvertebral-fracture-in-men-on-dialysis-therapy
#6
Jasna Aleksova, Phillip Wong, Robert McLachlan, Kay Weng Choy, Peter R Ebeling, Frances Milat, Grahame J Elder
Gonadal hormones impact bone health and higher values of sex hormone-binding globulin (SHBG) have been independently associated with fracture risk in men without chronic kidney disease. People with chronic kidney disease have a greatly increased fracture risk, and gonadal dysfunction is common in men receiving dialysis treatment. Nevertheless, in these men the effect of gonadal steroids and SHBG on bone mineral density (BMD) and fracture risk is unknown. Here we investigate relationships between gonadal steroids, SHBG, BMD and fracture in men on long-term dialysis therapy, awaiting kidney or simultaneous pancreas kidney transplantation...
May 15, 2018: Kidney International
https://www.readbyqxmd.com/read/29775702/abnormal-sleep-architecture-and-hippocampal-circuit-dysfunction-in-a-mouse-model-of-fragile-x-syndrome
#7
Christine E Boone, Heydar Davoudi, Jon B Harrold, David J Foster
Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and single-gene cause of autism spectrum disorder. The Fmr1 null mouse models much of the human disease including hyperarousal, sensory hypersensitivity, seizure activity, and hippocampus-dependent cognitive impairment. Sleep architecture is disorganized in FXS patients, but has not been examined in Fmr1 knockout (Fmr1-KO) mice. Hippocampal neural activity during sleep, which is implicated in memory processing, also remains uninvestigated in Fmr1-KO mice...
May 15, 2018: Neuroscience
https://www.readbyqxmd.com/read/29774230/early-vocal-development-in-autism-spectrum-disorder-rett-syndrome-and-fragile-x-syndrome-insights-from-studies-using-retrospective-video-analysis
#8
Laura Roche, Dajie Zhang, Katrin D Bartl-Pokorny, Florian B Pokorny, Björn W Schuller, Gianluca Esposito, Sven Bölte, Herbert Roeyers, Luise Poustka, Markus Gugatschka, Hannah Waddington, Ralf Vollmann, Christa Einspieler, Peter B Marschik
This article provides an overview of studies assessing the early vocalisations of children with autism spectrum disorder (ASD), Rett syndrome (RTT), and fragile X syndrome (FXS) using retrospective video analysis (RVA) during the first two years of life. Electronic databases were systematically searched and a total of 23 studies were selected. These studies were then categorised according to whether children were later diagnosed with ASD (13 studies), RTT (8 studies), or FXS (2 studies), and then described in terms of (a) participant characteristics, (b) control group characteristics, (c) video footage, (d) behaviours analysed, and (e) main findings...
March 2018: Advances in Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29774207/overview-of-social-cognitive-dysfunctions-in-rare-developmental-syndromes-with-psychiatric-phenotype
#9
REVIEW
Aurore Morel, Elodie Peyroux, Arnaud Leleu, Emilie Favre, Nicolas Franck, Caroline Demily
Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29771335/loss-of-fragile-x-protein-fmrp-impairs-homeostatic-synaptic-downscaling-through-tumor-suppressor-p53-and-ubiquitin-e3-ligase-nedd4-2
#10
Kwan Young Lee, Kathryn A Jewett, Hee Jung Chung, Nien-Pei Tsai
Synaptic scaling allows neurons to homeostatically readjust synaptic strength upon chronic neural activity perturbations. Although altered synaptic scaling has been implicated to underlie imbalanced brain excitability in neurological disorders such as autism spectrum disorders and epilepsy, the molecular dysregulation and restoration of synaptic scaling in those diseases have not been demonstrated. Here, we showed that the homeostatic synaptic downscaling is absent in the hippocampal neurons of Fmr1 KO mice, the mouse model of the most common inherited autism, Fragile X Syndrome (FXS)...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29766482/-fragile-x-syndrome-new-therapeutic-strategies
#11
S Zeidler, B Dierckx, K Lubbers, A M van Eeghen, C R Lincke, J A Kievit, R Willemsen, A Rietman
Fragile X syndrome (fxs) is the most common hereditary cause of intellectual disability and autism spectrum disorders. Targeted treatment is currently lacking. In the past decades an enormous amount of knowledge has been obtained concerning the involved molecular pathways, introducing potential targets for disease modifying therapy.<br/> AIM: To present an overview of the development of targeted treatment for fxs.<br/> METHOD: Several important publications were collected and indexed.<br/> RESULTS: While preclinical animal model studies with targeted interventions are promising, the translation to the clinic has been disappointing...
2018: Tijdschrift Voor Psychiatrie
https://www.readbyqxmd.com/read/29766042/bc-rna-mislocalization-in-the-fragile-x-premutation
#12
Ilham A Muslimov, Taesun Eom, Anna Iacoangeli, Shih-Chieh Chuang, Renate K Hukema, Rob Willemsen, Dimitre G Stefanov, Robert K S Wong, Henri Tiedge
Fragile X premutation disorder is caused by CGG triplet repeat expansions in the 5' untranslated region of FMR1 mRNA. The question of how expanded CGG repeats cause disease is a subject of continuing debate. Our work indicates that CGG-repeat structures compete with regulatory BC1 RNA for access to RNA transport factor hnRNP A2. As a result, BC1 RNA is mislocalized in vivo, as its synapto-dendritic presence is severely diminished in brains of CGG-repeat knock-in animals (a premutation mouse model). Lack of BC1 RNA is known to cause seizure activity and cognitive dysfunction...
March 2018: ENeuro
https://www.readbyqxmd.com/read/29760651/human-dna-helicase-b-as-a-candidate-for-unwinding-secondary-cgg-repeat-structures-at-the-fragile-x-mental-retardation-gene
#13
Gulfem D Guler, Zev Rosenwaks, Jeannine Gerhardt
The fragile X syndrome (FXS) is caused by a CGG repeat expansion at the fragile X mental retardation ( FMR1 ) gene. FMR1 alleles with more than 200 CGG repeats bear chromosomal fragility when cells experience folate deficiency. CGG repeats were reported to be able to form secondary structures, such as hairpins, in vitro . When such secondary structures are formed, repeats can lead to replication fork stalling even in the absence of any additional perturbation. Indeed, it was recently shown that the replication forks stall at the endogenous FMR1 locus in unaffected and FXS cells, suggesting the formation of secondary repeat structures at the FMR1 gene in vivo ...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29757285/microfluidic-chips-for-in-situ-crystal-x-ray-diffraction-and-in-situ-dynamic-light-scattering-for-serial-crystallography
#14
Yannig Gicquel, Robin Schubert, Svetlana Kapis, Gleb Bourenkov, Thomas Schneider, Markus Perbandt, Christian Betzel, Henry N Chapman, Michael Heymann
This protocol describes fabricating microfluidic devices with low X-ray background optimized for goniometer based fixed target serial crystallography. The devices are patterned from epoxy glue using soft lithography and are suitable for in situ X-ray diffraction experiments at room temperature. The sample wells are lidded on both sides with polymeric polyimide foil windows that allow diffraction data collection with low X-ray background. This fabrication method is undemanding and inexpensive. After the sourcing of a SU-8 master wafer, all fabrication can be completed outside of a cleanroom in a typical research lab environment...
April 24, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29747568/classical-fragile-x-phenotype-in-a-female-infant-disclosed-by-comprehensive-genomic-studies
#15
Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano, Rosário Santos
BACKGROUND: We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities. CASE PRESENTATION: We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history...
May 10, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29736627/expressed-information-needs-of-patients-with-osteoporosis-and-or-fragility-fractures-a-systematic-review
#16
REVIEW
Grace Raybould, Opeyemi Babatunde, Amy L Evans, Joanne L Jordan, Zoe Paskins
This systematic review identified patients have unmet information needs about the nature of osteoporosis, medication, self-management and follow-up. Clinician knowledge and attitudes appear to be of key importance in determining whether these needs are met. Unmet information needs appear to have psychosocial consequences and result in poor treatment adherence. PURPOSE: Patient education is an integral component of the management of osteoporosis, yet patients are dissatisfied with the information they receive and see this as an area of research priority...
May 8, 2018: Archives of Osteoporosis
https://www.readbyqxmd.com/read/29734272/general-anesthetic-use-in-fragile-x-spectrum-disorders
#17
Andrew Ligsay, Marwa El-Deeb, Maria J Salcedo-Arellano, Nina Schloemerkemper, Jeremy S Grayson, Randi Hagerman
The fragile X premutation is characterized by a repeat expansion mutation (between 55 to 200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene, which leads to RNA toxicity at the cellular level. This may cause patients with the premutation to be particularly susceptible to environmental toxins, which could manifest clinically as new or worsening ataxia and memory loss. Multiple published case reports have also suggested general anesthetics as a potential toxin leading to negative side effects when used in patients with fragile X- associated disorders...
May 4, 2018: Journal of Neurosurgical Anesthesiology
https://www.readbyqxmd.com/read/29730505/a-comparison-of-functional-academic-and-daily-living-skills-in-males-with-fragile-x-syndrome-with-and-without-autism
#18
Melissa Raspa, Vitor Franco, Ellen Bishop, Anne C Wheeler, Amanda Wylie, Donald B Bailey
BACKGROUND: Adaptive behaviors, such as functional academic and daily living skills, are critical for independence in adults with intellectual and developmental disabilities. However, little is known about these skills in fragile X syndrome (FXS), the most common form of inherited intellectual disability. AIMS: The purposes of this study were to describe the functional academic and daily living skills of males diagnosed with FXS across different age groups and compare skill attainment by autism status and other common co-occurring conditions...
May 3, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29722449/overactivity-impulsivity-and-repetitive-behaviour-in-males-with-fragile-x-syndrome-contrasting-developmental-trajectories-in-those-with-and-without-elevated-autism-symptoms
#19
H Crawford, J Moss, C Stinton, G Singla, C Oliver
BACKGROUND: Hyperactivity and repetitive behaviour are characteristic features of fragile X syndrome (FXS). However, little is known about the influence of autism symptomatology on how these characteristics develop over time. We investigate the profiles and developmental trajectories of overactivity, impulsivity and repetitive behaviour, in males with FXS over three time points spanning 8 years. METHOD: Participants formed two subgroups, those who displayed elevated symptoms of autism at Time 1 (n = 37; Mage  = 16...
May 3, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29721240/mexican-patients-with-hiv-have-a-high-prevalence-of-vertebral-fractures
#20
José Antonio Mata-Marín, Carla I Arroyo-Anduiza, María de Los Ángeles Berrospe-Silva, Alberto Chaparro-Sánchez, Ana Gil-Avila, Jesús Gaytán-Martínez
Low bone mineral density (BMD) and fragility fractures are common in individuals infected with HIV, who are undergoing antiretroviral therapy (ART). In high-income countries, dual energy X-ray absorptiometrry is typically used to evaluate osteopenia or osteoporosis in HIV infected individuals. However, this technology is unavailable in low andmiddle income countries, so a different approach is needed. The aim of this study was to use X-ray scans of the spine to determine the prevalence of and associated risk factors for vertebral fractures in HIVinfected patients in a tertiary-care hospital in Mexico...
March 29, 2018: Infectious Disease Reports
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