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https://www.readbyqxmd.com/read/28095060/executive-functioning-mediates-the-effect-of-behavioral-problems-on-depression-in-mothers-of-children-with-developmental-disabilities
#1
Wai Chan, Leann E Smith, Jan S Greenberg, Jinkuk Hong, Marsha R Mailick
The present investigation explored long-term relationships of behavioral symptoms of adolescents and adults with developmental disabilities with the mental health of their mothers. Fragile X premutation carrier mothers of an adolescent or adult child with fragile X syndrome (n = 95), and mothers of a grown child with autism (n = 213) were included. Behavioral symptoms at Time 1 were hypothesized to predict maternal depressive symptoms at Time 3 via maternal executive dysfunction at Time 2. Results provided support for the mediating pathway of executive dysfunction...
January 2017: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28094958/magnetic-nanoparticle-based-mechanical-stimulation-for-restoration-of-mechano-sensitive-ion-channel-equilibrium-in-neural-networks
#2
Andy Tay, Dino Di Carlo
Techniques offering remote control of neural activity with high spatiotemporal resolution and specificity are invaluable for deciphering the physiological roles of different classes of neurons in brain development and disease. Here, we first confirm that micro-fabricated substrates with enhanced magnetic field gradients allow for wireless stimulation of neural circuits dosed with magnetic nanoparticles using calcium indicator dyes. We also investigate the mechanism of mechano-transduction in this system and identify that N-type mechano-sensitive calcium ion channels play a key role in signal generation in response to magnetic force...
January 17, 2017: Nano Letters
https://www.readbyqxmd.com/read/28094287/relaxation-dynamics-in-the-strong-chalcogenide-glass-former-of-ge22se78
#3
Pengfei Li, Yaqi Zhang, Zeming Chen, Peng Gao, Tao Wu, Li-Min Wang
The enthalpy relaxation is performed in the glassy Ge22Se78 to understand the dynamic behaviors. The structure of the glass is examined by X-ray diffraction and Raman spectra. The dynamic parameters such as the fragility, stretching exponent and non-linear factor are determined. A low fragility of m = 27 is exhibited for the chalcogenide, however, the stretching exponent is found not to have a larger value. The enthalpy relaxation spectra are constructed for various glass formers, and a relationship between the fragility and the symmetry of the spectra is demonstrated...
January 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28086947/quantifying-growing-versus-non-growing-ovarian-follicles-in-the-mouse
#4
Bahar Uslu, Carola Conca Dioguardi, Monique Haynes, De-Qiang Miao, Meltem Kurus, Gloria Hoffman, Joshua Johnson
BACKGROUND: A standard histomorphometric approach has been used for nearly 40 years that identifies atretic (e.g., dying) follicles by counting the number of pyknotic granulosa cells (GC) in the largest follicle cross-section. This method holds that if one pyknotic granulosa nucleus is seen in the largest cross section of a primary follicle, or three pyknotic cells are found in a larger follicle, it should be categorized as atretic. Many studies have used these criteria to estimate the fraction of atretic follicles that result from genetic manipulation or environmental insult...
January 13, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/28077511/altered-connectivity-and-synapse-maturation-of-the-hippocampal-mossy-fiber-pathway-in-a-mouse-model-of-the-fragile-x-syndrome
#5
F Scharkowski, Michael Frotscher, David Lutz, Martin Korte, Kristin Michaelsen-Preusse
The Fragile X syndrome (FXS) as the most common monogenetic cause of cognitive impairment and autism indicates how tightly the dysregulation of synapse development is linked to cognitive deficits. Symptoms of FXS include excessive adherence to patterns that point to compromised hippocampal network formation. Surprisingly, one of the most complex hippocampal synapses connecting the dentate gyrus (DG) to CA3 pyramidal neurons has not been analyzed in FXS yet. Intriguingly, we found altered synaptic function between DG and CA3 in a mouse model of FXS (fmr1 knockout [KO]) demonstrated by increased mossy fiber-dependent miniature excitatory postsynaptic current (mEPSC) frequency at CA3 pyramidal neurons together with increased connectivity between granule cells and CA3 neurons...
January 10, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28074357/the-longitudinal-effects-of-parenting-on-adaptive-behavior-in-children-with-fragile-x-syndrome
#6
Steven F Warren, Nancy Brady, Kandace K Fleming, Laura J Hahn
Several studies have reported declines in adaptive behavior amongst children with fragile X syndrome (FXS) starting in middle childhood. We examined the effects of maternal responsivity on adaptive behavior in 55 children with FXS visited 5-6 times in their homes from early through middle childhood. Our analyses indicated that sustained maternal responsivity had a significant positive impact on the trajectories of communication and to a lesser extent other adaptive behavior domains through middle childhood with many effects remaining significant after controlling for autism symptoms and developmental level...
January 10, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28074353/language-skills-of-males-with-fragile-x-syndrome-or-nonsyndromic-autism-spectrum-disorder
#7
Angela John Thurman, Andrea McDuffie, Randi J Hagerman, Cynde K Josol, Leonard Abbeduto
Despite the similarities observed between the fragile X syndrome (FXS) and autism spectrum disorder (ASD) phenotypes, few studies have compared their behavioral profiles outside of ASD symptomatology. In the present study, we sought to compare lexical and grammatical abilities in these two conditions. Comparisons of language abilities in both of these conditions are particularly interesting because both conditions are characterized by difficulties navigating social interactions. Results suggest that although both FXS and ASD are associated with language difficulties, there are important differences between the two conditions in terms of the language profiles observed and the factors influencing language when considering children of similar developmental levels...
January 10, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28073926/mutations-of-pqbp1-in-renpenning-syndrome-promote-ubiquitin-mediated-degradation-of-fmrp-and-cause-synaptic-dysfunction
#8
Xiao-Yan Zhang, Junxia Qi, Yu-Qian Shen, Xian Liu, An Liu, Zikai Zhou, Junhai Han, Zi Chao Zhang
Renpenning syndrome is a group of X-linked intellectual disability (XLID) syndromes caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene. Little is known about the molecular pathogenesis of the various mutations that cause the notable variability in patients. In this study, we examine the cellular and synaptic functions of the most common mutations found in the patients: c.461_462delAG, c.459_462delAGAG, and c.463_464dupAG in an AG hexamer in PQBP1 exon 4. We discovered that PQBP1 c.459_462delAGAG and c...
January 10, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28067165/gene-therapy-in-fanconi-anemia-a-matter-of-time-safety-and-gene-transfer-tool-efficiency
#9
Verhoeyen Els, Francisco José Román Rodríguez, François-Loïc Cosset, Camille Lévy, Paula Rio
Fanconi anemia (FA) is a rare genetic syndrome characterized by progressive marrow failure. Gene therapy by infusion of FA-corrected autologous hematopoietic stem cells (HSCs) may offer a potential cure since it is a monogenetic disease with mutations in the FANC genes, coding for DNA repair enzymes (See review[1]). However, the collection of hCD34 +-cells in FA patients implies particular challenges because of the reduced numbers of progenitor cells present in their bone marrow (BM)[2] or mobilized peripheral blood[3-5]...
January 9, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28065649/translation-of-expanded-cgg-repeats-into-fmrpolyg-is-pathogenic-and-may-contribute-to-fragile-x-tremor-ataxia-syndrome
#10
Chantal Sellier, Ronald A M Buijsen, Fang He, Sam Natla, Laura Jung, Philippe Tropel, Angeline Gaucherot, Hugues Jacobs, Hamid Meziane, Alexandre Vincent, Marie-France Champy, Tania Sorg, Guillaume Pavlovic, Marie Wattenhofer-Donze, Marie-Christine Birling, Mustapha Oulad-Abdelghani, Pascal Eberling, Frank Ruffenach, Mathilde Joint, Mathieu Anheim, Veronica Martinez-Cerdeno, Flora Tassone, Rob Willemsen, Renate K Hukema, Stéphane Viville, Cecile Martinat, Peter K Todd, Nicolas Charlet-Berguerand
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a limited expansion of CGG repeats in the 5' UTR of FMR1. Two mechanisms are proposed to cause FXTAS: RNA gain-of-function, where CGG RNA sequesters specific proteins, and translation of CGG repeats into a polyglycine-containing protein, FMRpolyG. Here we developed transgenic mice expressing CGG repeat RNA with or without FMRpolyG. Expression of FMRpolyG is pathogenic, while the sole expression of CGG RNA is not...
January 4, 2017: Neuron
https://www.readbyqxmd.com/read/28048283/we-h-204-03-part-2-history-and-archives-resources-at-aip-for-aapm-and-its-members
#11
M Mueller
: "William D. Coolidge, Inventor of the Modern X-ray Tube" David J. Allard, M.S., CHP - Director, PA DEP Bureau of Radiation Protection William David Coolidge 1873-1975 was a research scientist and inventor of the modern X-ray tube. Besides Roentgen, with his 1895 discovery and subsequent studies of X-rays, perhaps no other individual contributed more to the advancement of X-ray technology than did Coolidge. He was born in Hudson, MA and received his Bachelor of Science degree from MIT in 1896...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28047523/we-h-204-00-history-committee-symposium
#12
Michael Gossman
: "William D. Coolidge, Inventor of the Modern X-ray Tube" David J. Allard, M.S., CHP - Director, PA DEP Bureau of Radiation Protection William David Coolidge 1873-1975 was a research scientist and inventor of the modern X-ray tube. Besides Roentgen, with his 1895 discovery and subsequent studies of X-rays, perhaps no other individual contributed more to the advancement of X-ray technology than did Coolidge. He was born in Hudson, MA and received his Bachelor of Science degree from MIT in 1896...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28046866/we-h-204-01-william-d-coolidge-inventor-of-the-modern-x-ray-tube
#13
D Allard
: "William D. Coolidge, Inventor of the Modern X-ray Tube" David J. Allard, M.S., CHP - Director, PA DEP Bureau of Radiation Protection William David Coolidge 1873-1975 was a research scientist and inventor of the modern X-ray tube. Besides Roentgen, with his 1895 discovery and subsequent studies of X-rays, perhaps no other individual contributed more to the advancement of X-ray technology than did Coolidge. He was born in Hudson, MA and received his Bachelor of Science degree from MIT in 1896...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28046206/we-h-204-02-part-1-history-and-archives-resources-at-aip-for-aapm-and-its-members
#14
G Good
: "William D. Coolidge, Inventor of the Modern X-ray Tube" David J. Allard, M.S., CHP - Director, PA DEP Bureau of Radiation Protection William David Coolidge 1873-1975 was a research scientist and inventor of the modern X-ray tube. Besides Roentgen, with his 1895 discovery and subsequent studies of X-rays, perhaps no other individual contributed more to the advancement of X-ray technology than did Coolidge. He was born in Hudson, MA and received his Bachelor of Science degree from MIT in 1896...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28043896/marrow-adipose-tissue-composition-in-adults-with-morbid-obesity
#15
Elaine W Yu, Logan Greenblatt, Alireza Eajazi, Martin Torriani, Miriam A Bredella
Patients with type 2 diabetes mellitus (T2DM) have increased fracture risk despite normal or increased bone mineral density (BMD). Elevations in marrow adipose tissue (MAT) and declines in MAT unsaturation are both associated with increased skeletal fragility. The objective of our study was to characterize the quantity and composition of MAT in adults with morbid obesity and T2DM, and to evaluate determinants of MAT. We studied 21 adults with morbid obesity prior to bariatric surgery, 8 of whom had T2DM. All subjects underwent 1H-MR spectroscopy of the lumbar spine and femur for assessment of MAT and dual-energy x-ray absorptiometry (DXA) and quantitative computed tomography (QCT) of the lumbar spine and hip for assessment of areal BMD (aBMD) and volumetric BMD (vBMD)...
December 30, 2016: Bone
https://www.readbyqxmd.com/read/28042512/the-measurement-of-bone-quality-using-gray-level-co-occurrence-matrix-textural-features
#16
Mukul Shirvaikar, Ning Huang, Xuanliang Neil Dong
In this paper, statistical methods for the estimation of bone quality to predict the risk of fracture are reported. Bone mineral density and bone architecture properties are the main contributors of bone quality. Dual-energy X-ray Absorptiometry (DXA) is the traditional clinical measurement technique for bone mineral density, but does not include architectural information to enhance the prediction of bone fragility. Other modalities are not practical due to cost and access considerations. This study investigates statistical parameters based on the Gray Level Co-occurrence Matrix (GLCM) extracted from two-dimensional projection images and explores links with architectural properties and bone mechanics...
October 2016: Journal of Medical Imaging and Health Informatics
https://www.readbyqxmd.com/read/28028555/hip-and-other-fragility-fracture-incidence-in-real-world-teriparatide-treated-patients-in-the-united-states
#17
R T Burge, D P Disch, S Gelwicks, X Zhang, J H Krege
: This study demonstrates real-world effectiveness of teriparatide in reducing the risk of hip and other fragility fractures. Fracture incidence significantly decreased as adherence and persistence increased for any clinical, vertebral, nonvertebral, and hip fractures among patients who were observed for 2 years after teriparatide initiation. INTRODUCTION: Examine the relationship of treatment adherence and persistence to teriparatide with hip and other fractures...
December 27, 2016: Osteoporosis International
https://www.readbyqxmd.com/read/28025844/cross-sectional-study-evaluating-skin-hair-nail-and-bone-disease-in-patients-with-focal-dermal-hypoplasia
#18
Nicole S Gunasekera, Joan K Divito, Thomas S Kupper, Jennifer T Huang, Sherrie J Divito
Focal dermal hypoplasia (FDH) is an X-linked dominant disease characterized by dermal thinning and fat herniation with other ectodermal and mesodermal abnormalities. There is limited literature regarding the symptomatology and progression of skin, hair, and nail disease. The risk of bone fragility has not been explored either. This cross-sectional survey-based study explored these gaps in knowledge and provides direction for future avenues of research in FDH.
December 26, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/28025327/fmrp-dependent-mdm2-dephosphorylation-is-required-for-mef2-induced-synapse-elimination
#19
Nien-Pei Tsai, Julia R Wilkerson, Weirui Guo, Kimberly M Huber
The Myocyte Enhancer Factor 2 (MEF2) transcription factors suppress an excitatory synapse number by promoting degradation of the synaptic scaffold protein, postsynaptic density protein 95 (PSD-95), a process that is deficient in the mouse model of Fragile X Syndrome, Fmr1 KO. How MEF2 activation results in PSD-95 degradation and why this is defective in Fmr1 KO neurons is unknown. Here we report that MEF2 induces a Protein phosphatase 2A (PP2A)-mediated dephosphorylation of murine double minute-2 (Mdm2), the ubiquitin E3 ligase for PSD-95, which results in nuclear export and synaptic accumulation of Mdm2 as well as PSD-95 degradation and synapse elimination...
December 26, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28018172/app-causes-hyperexcitability-in-fragile-x-mice
#20
Cara J Westmark, Shih-Chieh Chuang, Seth A Hays, Mikolaj J Filon, Brian C Ray, Pamela R Westmark, Jay R Gibson, Kimberly M Huber, Robert K S Wong
Amyloid-beta protein precursor (APP) and metabolite levels are altered in fragile X syndrome (FXS) patients and in the mouse model of the disorder, Fmr1(KO) mice. Normalization of APP levels in Fmr1(KO) mice (Fmr1(KO) /APP(HET) mice) rescues many disease phenotypes. Thus, APP is a potential biomarker as well as therapeutic target for FXS. Hyperexcitability is a key phenotype of FXS. Herein, we determine the effects of APP levels on hyperexcitability in Fmr1(KO) brain slices. Fmr1(KO) /APP(HET) slices exhibit complete rescue of UP states in a neocortical hyperexcitability model and reduced duration of ictal discharges in a CA3 hippocampal model...
2016: Frontiers in Molecular Neuroscience
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