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https://www.readbyqxmd.com/read/28329674/%C3%AE-arrestin2-couples-metabotropic-glutamate-receptor-5-to-neuronal-protein-synthesis-and-is-a-potential-target-to-treat-fragile-x
#1
Laura J Stoppel, Benjamin D Auerbach, Rebecca K Senter, Anthony R Preza, Robert J Lefkowitz, Mark F Bear
Synaptic protein synthesis is essential for modification of the brain by experience and is aberrant in several genetically defined disorders, notably fragile X (FX), a heritable cause of autism and intellectual disability. Neural activity directs local protein synthesis via activation of metabotropic glutamate receptor 5 (mGlu5), yet how mGlu5 couples to the intracellular signaling pathways that regulate mRNA translation is poorly understood. Here, we provide evidence that β-arrestin2 mediates mGlu5-stimulated protein synthesis in the hippocampus and show that genetic reduction of β-arrestin2 corrects aberrant synaptic plasticity and cognition in the Fmr1(-/y) mouse model of FX...
March 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/28323226/herc1-mutations-in-idiopathic-intellectual-disability
#2
G Eda Utine, Ekim Z Taşkıran, Can Koşukcu, Beren Karaosmanoğlu, Naz Güleray, Özlem Akgün Doğan, P Özlem Şimşek Kiper, Koray Boduroğlu, Mehmet Alikaşifoğlu
HERC1 is a member of HERC protein family of ubiquitin ligases and is a negative regulator of the mTOR pathway. It is also a guanine nucleotide exchange factor for ARF and Rab family GTPases. Biallelic mutations in HERC1 were recently shown to cause a human phenotype with overgrowth and intellectual disability as main features. Herein we describe clinical features in another patient with homozygous novel mutation in HERC1. Moderate to severe intellectual disability, hypotonia, macrocephaly, tall stature, and facial features appear as main clinical features of the condition...
March 16, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28322545/surface-modification-of-the-lifepo4-cathode-for-the-aqueous-rechargeable-lithium-ion-battery
#3
Artur Tron, Yong Nam Jo, Si Hyoung Oh, Yeong Don Park, Junyoung Mun
The LiFePO4 surface is coated with AlF3 via a simple chemical precipitation for aqueous rechargeable lithium ion batteries (ARLBs). During electrochemical cycling, the unfavorable side reactions between LiFePO4 and the aqueous electrolyte (1 M Li2SO4 in water) leave a highly resistant passivation film, which causes a deterioration in the electrochemical performance. The coated LiFePO4 by 1 wt.% AlF3 has a high discharge capacity of 132 mAh g-1 and a highly-improved cycle life, which shows 93% capacity retention even after 100 cycles, whereas the pristine LiFePO4 has a specific capacity of 123 mAh g-1 and a poor capacity retention of 82%...
March 21, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28316753/a-resting-eeg-study-of-neocortical-hyperexcitability-and-altered-functional-connectivity-in-fragile-x-syndrome
#4
Jun Wang, Lauren E Ethridge, Matthew W Mosconi, Stormi P White, Devin K Binder, Ernest V Pedapati, Craig A Erickson, Matthew J Byerly, John A Sweeney
BACKGROUND: Cortical hyperexcitability due to abnormal fast-spiking inhibitory interneuron function has been documented in fmr1 KO mice, a mouse model of the fragile X syndrome which is the most common single gene cause of autism and intellectual disability. METHODS: We collected resting state dense-array electroencephalography data from 21 fragile X syndrome (FXS) patients and 21 age-matched healthy participants. RESULTS: FXS patients exhibited greater gamma frequency band power, which was correlated with social and sensory processing difficulties...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28301083/age-specific-autistic-like-behaviors-in-heterozygous-fmr1-ko-female-mice
#5
Manon Gauducheau, Valerie Lemaire-Mayo, Francesca R D'Amato, Diego Oddi, Wim E Crusio, Susanna Pietropaolo
Fragile X syndrome (FXS) is a major developmental disorder and the most frequent monogenic cause of autism. Surprisingly, most existing studies on the Fmr1-KO mouse model for FXS have focused on males, although FX women, who are mostly heterozygous for the Fmr1 mutation, are known to exhibit several behavioral deficits, including autistic-like features. Furthermore, most animal research has been carried out on adults only; so that little is known about the age progression of the behavioral phenotype of Fmr1 mutants, which is a crucial issue to optimize the impact of therapeutic interventions...
March 16, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28294163/erratum-sensory-hypo-excitability-in-a-rat-model-of-fetal-development-in-fragile-x-syndrome
#6
Julia Berzhanskaya, Marnie A Phillips, Jing Shen, Matthew T Colonnese
No abstract text is available yet for this article.
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28290112/protecting-bone-health-in-pediatric-rheumatic-diseases-pharmacological-considerations
#7
REVIEW
Yujuan Zhang, Diana Milojevic
Bone health in children with rheumatic conditions may be compromised due to several factors related to the inflammatory disease state, delayed puberty, altered life style, including decreased physical activities, sun avoidance, suboptimal calcium and vitamin D intake, and medical treatments, mainly glucocorticoids and possibly some disease-modifying anti-rheumatic drugs. Low bone density or even fragility fractures could be asymptomatic; therefore, children with diseases of high inflammatory load, such as systemic onset juvenile idiopathic arthritis, juvenile dermatomyositis, systemic lupus erythematosus, and those requiring chronic glucocorticoids may benefit from routine screening of bone health...
March 13, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28289103/bone-structural-changes-after-gastric-bypass-surgery-evaluated-by-hr-pqct-a-two-year-longitudinal-study
#8
Vikram Vinod Shanbhogue, René Klinkby Støving, Katrine Diemer Frederiksen, Stine Hanson, Kim Brixen, Jeppe Gram, Niklas Rye Jorgensen, Stinus Hansen
Objective, design and methods: Roux-en-Y gastric bypass (RYGB) has proved successful in attaining sustained weight loss but may lead to metabolic bone disease. To assess impact on bone mass and structure, we measured areal bone mineral density at the hip and spine by dual-energy x-ray absorptiometry, and volumetric BMD (vBMD) and bone microarchitecture at the distal radius and tibia by high-resolution peripheral quantitative CT in 25 morbidly obese subjects (15 females, 10 males) at 0, 12 and 24 months after RYGB...
March 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28286580/erratum-to-a-developmental-longitudinal-investigation-of-autism-phenotypic-profiles-in-fragile-x-syndrome
#9
Michelle Lee, Gary E Martin, Elizabeth Berry-Kravis, Molly Losh
[This corrects the article DOI: 10.1186/s11689-016-9179-0.].
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28285742/peripheral-quantitative-computed-tomography-pqct-measures-contribute-to-the-understanding-of-bone-fragility-in-older-patients-with-low-trauma-fracture
#10
Hongyuan Jiang, Christopher J Yates, Alexandra Gorelik, Ashwini Kale, Qichun Song, John D Wark
Dual-energy X-ray absorptiometry (DXA) as currently used has limitations in identifying patients with osteoporosis and predicting occurrence of fracture. We aimed to express peripheral quantitative computed tomography (pQCT) variables of patients with low-trauma fracture as T-scores by using T-score scales obtained from healthy young women, and to evaluate the potential clinical utility of pQCT for the assessment of bone fragility. Fracture patients were recruited from a fracture liaison service at the Royal Melbourne Hospital...
March 9, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28281129/autism-spectrum-disorder-symptoms-in-infants-with-fragile-x-syndrome-a-prospective-case-series
#11
Abigail L Hogan, Kelly E Caravella, Jordan Ezell, Lisa Rague, Kimberly Hills, Jane E Roberts
No studies to date have prospectively examined early autism spectrum disorder (ASD) markers in infants with fragile X syndrome (FXS), who are at elevated risk for ASD. This paper describes the developmental profiles of eight infants with FXS from 9 to 24 months of age. Four meet diagnostic criteria for ASD at 24 months of age, and four do not. Trends in these case studies suggest that early social-communicative deficits differentiate infants with and without later ASD diagnoses in ways that are similar to later-born siblings of children with ASD...
March 9, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28274010/radiological-outcomes-of-distal-radius-fractures-managed-with-2-7mm-volar-locking-plate-fixation-a-retrospective-analysis
#12
Prem Kotian, Srikanth Mudiganty, Rajendra Annappa, Jose Austine
INTRODUCTION: Distal radius fractures accounts for around 15% of all fractures diagnosed and treated in the emergency rooms. These fractures usually result secondary to high velocity injury such as a motor vehicle accident or fall on an out stretched hand. In the elderly, it is a common fragility fracture. Volar Locking Compression Plates (LCP) is effective devices for fixation of the distal radius fractures. There is a lacuna with regard to literature on the 2.7 mm volar LCP and the current study retrospectively assesses the postoperative radiological outcomes...
January 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28266018/cell-type-dependent-axonal-localization-of-translational-regulators-and-mrna-in-mouse-peripheral-olfactory-neurons
#13
Lulu I T Korsak, Katherine A Shepard, Michael R Akins
Local protein synthesis in mature axons may play a role in synaptic plasticity, axonal arborization, or functional diversity of the circuit. To gain insight into this question, we investigated the axonal localization of translational regulators and associated mRNAs in five parallel olfactory circuits, four in the main olfactory bulb and one in the accessory olfactory bulb. Axons in all four main olfactory bulb circuits exhibited axonal localization of Fragile X granules (FXGs), structures that comprise ribosomes, mRNA, and RNA binding proteins including the Fragile X protein FMRP (Fragile X mental retardation protein) and the related protein FXR2P...
March 7, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28265896/use-of-cone-beam-computed-tomography-in-identifying-postmenopausal-women-with-osteoporosis
#14
C B Brasileiro, L L F H Chalub, M H N G Abreu, I D Barreiros, T M P Amaral, A M Kakehasi, R A Mesquita
The aim of this study is to correlate radiometric indices from cone beam computed tomography (CBCT) images and bone mineral density (BMD) in postmenopausal women. Quantitative CBCT indices can be used to screen for women with low BMD. PURPOSE: Osteoporosis is a disease characterized by the deterioration of bone tissue and the consequent decrease in BMD and increase in bone fragility. Several studies have been performed to assess radiometric indices in panoramic images as low-BMD predictors...
December 2017: Archives of Osteoporosis
https://www.readbyqxmd.com/read/28257890/a-novel-role-of-fragile-x-mental-retardation-protein-in-pre-mrna-alternative-splicing-through-rna-binding-protein-14
#15
Lin-Tao Zhou, Shun-Hua Ye, Hai-Xuan Yang, Yong-Ting Zhou, Qi-Hua Zhao, Wei-Wen Sun, Mei-Mei Gao, Yong-Hong Yi, Yue-Sheng Long
Fragile X mental retardation protein (FMRP), an important RNA-binding protein responsible for fragile X syndrome, is involved in posttranscriptional control of gene expression that links with brain development and synaptic functions. Here, we reveal a novel role of FMRP in pre-mRNA alternative splicing, a general event of posttranscriptional regulation. Using co-immunoprecipitation and immunofluorescence assays, we identified that FMRP interacts with an alternative-splicing-associated protein RNA-binding protein 14 (RBM14) in a RNA-dependent fashion, and the two proteins partially colocalize in the nuclei of hippocampal neurons...
February 28, 2017: Neuroscience
https://www.readbyqxmd.com/read/28254211/babies-born-from-three-young-infertile-sisters-with-premature-ovarian-insufficiency-caused-by-inherited-fragile-x-syndrome-an-intergenerational-report
#16
Chang-Chih Hsieh, Chi-Huang Chen, Szu-Yu Shen, Chii-Ruey Tzeng
No abstract text is available yet for this article.
February 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28253484/identification-of-fragile-x-pre-mutation-carriers-in-the-chinese-obstetric-population-using-a-robust-fmr1-polymerase-chain-reaction-assay-implications-for-screening-and-prenatal-diagnosis
#17
Y Ky Cheng, C Sw Lin, Y Ky Kwok, Y M Chan, T K Lau, T Y Leung, K W Choy
INTRODUCTION: There is significant morbidity associated with fragile X syndrome. Unfortunately, most maternal carriers are clinically silent during their reproductive years. Because of this, many experts have put forward the notion of preconception or prenatal fragile X carrier screening for females. This study aimed to determine the prevalence of fragile X syndrome pre-mutation and asymptomatic full-mutation carriers in a Chinese pregnant population, and the distribution of cytosine-guanine-guanine (CGG) repeat numbers using a robust fragile X mental retardation 1 (FMR1) polymerase chain reaction assay...
March 3, 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/28249339/dual-energy-ct-a-novel-technique-for-diagnostic-testing-of-fragility-fractures-of-the-pelvis
#18
Carsten Hackenbroch, Hans-Joachim Riesner, Patricia Lang, Fabian Stuby, Burkhardt Danz, Benedikt Friemert, Hans-Georg Palm
Background The incidence of fragility fractures of the pelvis is increasing. Established methods to diagnose this condition include X-rays, computed tomography (CT) and magnetic resonance imaging (MRI). Dual energy CT (DECT) is a modern technology for the imaging of bone oedema/bruises and has been used in injuries of the extremities and spine. It is unclear whether this technique can also be used in fragility fractures of the pelvis. The aim of this study was to perform a literature research and survey of the "AG Becken III" members of the German Society of Trauma Surgery (DGU) on the usefulness of DECT in fractures of the pelvis...
February 2017: Zeitschrift Für Orthopädie und Unfallchirurgie
https://www.readbyqxmd.com/read/28247363/atypical-fracture-of-the-sternum-after-long-term-alendronate-plus-cholecalciferol-treatment-a-case-report
#19
Luis H Martín Arias, Pilar García Ortega, María Sáinz Gil, Ester Navarro García, Carlos Treceño Lobato, Virginia Delgado Armas
A 55-year-old woman developed an atraumatic sternum fracture during treatment with alendronate for osteoporosis. The woman received alendronate 70 mg in combination with cholecalciferol 5600 IU once weekly, as well as nonsteroidal anti-inflammatory drugs. After 4 years of treatment, following a dorsal flexion with no direct thoracic trauma, the patient suffered a fracture of the sternum, with an X-ray revealing sternal body fracture. This fracture was seen to be transverse, noncomminuted and without displacement...
December 2017: Drug Safety—Case Reports
https://www.readbyqxmd.com/read/28247259/vertebral-fracture-assessment-in-patients-presenting-with-a-non-hip-non-vertebral-fragility-fracture-experience-of-a-uk-fracture-liaison-service
#20
Aina Capdevila Reniu, Terence Ong, Syed Ajmal, Opinder Sahota
Twenty-five percent of patients with a non-hip non-vertebral fragility fracture have an undiagnosed vertebral fracture detected by vertebral fracture assessment during bone densitometric assessment. The prevalence of an undiagnosed vertebral fracture is higher in older people, and they are more likely to have multiple vertebral fractures. PURPOSE: Most vertebral fragility fractures (VFF) have no history of trauma. Vertebral fracture assessment (VFA) during dual energy x-ray absorptiometry (DXA) can be used to detect these VFFs...
December 2017: Archives of Osteoporosis
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