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https://www.readbyqxmd.com/read/28436599/metformin-as-targeted-treatment-in-fragile-x-syndrome
#1
Angel Belle C Dy, Flora Tassone, Marwa Eldeeb, María J Salcedo-Arellano, Nicole Tartaglia, Randi Hagerman
Individuals with Fragile X Syndrome (FXS) may be affected by several comorbid conditions, both behavioral and medical. Growth findings suggest that they are at an increased risk for obesity and overeating. The Prader-Willi phenotype (PWP) of FXS occurs in less than 10% of patients but it is associated with severe hyperphagia, lack of satiation and morbid obesity. Metformin is a drug used in individuals with high risk for diabetes type 2, obesity or impaired glucose tolerance. It has had a strong safety profile in children and adults with type 2 diabetes and obesity...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28427448/capture-recapture-methodology-to-study-rare-conditions-using-surveillance-data-for-fragile-x-syndrome-and-muscular-dystrophy
#2
Michael G Smith, Julie Royer, Joshua Mann, Suzanne McDermott, Rodolfo Valdez
BACKGROUND: Rare conditions can be catastrophic for families and the implications for public health can be substantial. Our study compared basic surveillance through active medical record review with a linked administrative data file to assess the number of cases of two rare conditions, fragile X syndrome (FXS) and muscular dystrophy (MD) in a population. METHODS: Two methods of data collection were used to collect information from five counties comprising two standard metropolitan statistical areas of South Carolina...
April 21, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28424484/the-tandem-agenet-domain-of-fragile-x-mental-retardation-protein-interacts-with-fus
#3
Qingzhong He, Wei Ge
The tandem Agenet domain (TAD) of fragile X mental retardation protein (FMRP) protein is considered to be a member of the methyl-lysine-binding Tudor domain "Royal family". Several groups have reported that the TAD binds with methylated histones and plays a role in DNA damage responses. FMRP is a RNA-binding protein predominantly resident in cytoplasm. Therefore, in this study, we identified DDX5, FUS, EWSR1 and LSM14A as TAD-interacting proteins sensitive to F32L and/or Y96L mutation by pull-down assays and mass spectrometry...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28424273/certainty-of-genuine-treatment-increases-drug-responses-among-intellectually-disabled-patients
#4
Karin B Jensen, Irving Kirsch, Moa Pontén, Annelie Rosén, Kathy Yang, Randy L Gollub, Vincent des Portes, Ted J Kaptchuk, Aurore Curie
OBJECTIVE: To determine the placebo component of treatment responses in patients with intellectual disability (ID). METHODS: A statistical meta-analysis comparing bias-corrected effect sizes (Hedges g) of drug responses in open-label vs placebo-controlled clinical trials was performed, as these trial types represent different certainty of receiving genuine treatment (100% vs 50%). Studies in fragile X, Down, Prader-Willi, and Williams syndrome published before June 2015 were considered...
April 19, 2017: Neurology
https://www.readbyqxmd.com/read/28422133/gene-set-analysis-shows-association-between-fmrp-targets-and-autism-spectrum-disorder
#5
Arija Jansen, Gwen C Dieleman, August B Smit, Matthijs Verhage, Frank C Verhulst, Tinca J C Polderman, Danielle Posthuma
Autism spectrum disorder (ASD) is a heterogeneous group of disorders characterized by problems with social interaction, communication, and repetitive and restricted behavior. Despite its high heritability and the substantial progress made in elucidating genetic associations, the corresponding biological mechanisms are largely unknown. Our objective is to investigate the contribution of common genetic variation to biological pathways functionally involved in ASD. We conducted gene-set analyses to identify ASD-associated functional biological pathways using the statistical tools MAGMA and INRICH...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28420439/fragile-x-syndrome-a-review-of-clinical-and-molecular-diagnoses
#6
REVIEW
Claudia Ciaccio, Laura Fontana, Donatella Milani, Silvia Tabano, Monica Miozzo, Susanna Esposito
BACKGROUND: Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000-7000 men and 1:4000-6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5' UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS...
April 19, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28407408/fmr1-genotype-interacts-with-parenting-stress-to-shape-health-and-functional-abilities-in-older-age
#7
Marsha Mailick, Jinkuk Hong, Jan Greenberg, Leann Smith Dawalt, Mei Wang Baker, Paul J Rathouz
This study investigated the association of genotype (CGG repeats in FMR1) and the health and well-being of 5,628 aging adults (mean age = 71) in a population-based study. Two groups were contrasted: aging parents who had adult children with developmental or mental health disabilities (n = 785; the high-stress parenting group) and aging parents of healthy children who did not have disabilities (n = 4843; the low-stress parenting group). There were significant curvilinear interaction effects between parenting stress group and CGG repeats for body mass index and indicators of health and functional limitations, and the results were suggestive of interactions for limitations in cognitive functioning...
April 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28407363/de-novo-unbalanced-translocation-4p-duplication-8p-deletion-in-a-patient-with-autism-ocd-and-overgrowth-syndrome
#8
Angela Sagar, Dalila Pinto, Fedra Najjar, Stephen J Guter, Carol Macmillan, Edwin H Cook
Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al. () Neuron 70: 863-885]. Many chromosomal abnormalities, including sub microscopic genomic deletions and duplications, are missed by G-banded karyotyping or Fragile X screening alone and are picked up by chromosomal microarrays [Shen et al. () Pediatrics 125: e727-735]. Translocations involving chromosomes 4 and 8 are possibly the second most frequent translocation in humans and are often undetected in routine cytogenetics [Giglio et al...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28404480/2d-and-3d-fish-of-expanded-repeat-rnas-in-human-lymphoblasts
#9
Martyna O Urbanek, Michał Michalak, Wlodzimierz J Krzyzosiak
The first methods for visualizing RNAs within cells were designed for simple imaging of specific transcripts in cells or tissues and since then significant technical advances have been made in this field. Today, high-resolution images can be obtained, enabling visualization of single transcript molecules, quantitative analyses of images, and precise localization of RNAs within cells as well as co-localization of transcripts with specific proteins or other molecules. In addition, tracking of RNA dynamics within single cell has become possible...
April 9, 2017: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/28400977/fragile-x-syndrome-lessons-learned-from-the-most-translated-neurodevelopmental-disorder-in-clinical-trials
#10
Phan Q Duy, Dejan B Budimirovic
Fragile X syndrome (FXS) is the leading genetic cause of autism spectrum disorder (ASD) and inherited intellectual disability (ID) worldwide. Preclinical successes in understanding the biology of FXS have led to numerous translational attempts in human clinical trials of therapeutics that target the excitatory/inhibitory neural signaling imbalances thought to underlie FXS. Despite the preclinical success story, the negative results of the human clinical trials have been deemed to be at least in part disappointing by the field...
January 2017: Translational Neuroscience
https://www.readbyqxmd.com/read/28398884/fragile-x-associated-tremor-ataxia-syndrome-cognitive-presentations
#11
P Connon, A J Larner
No abstract text is available yet for this article.
April 2, 2017: British Journal of Hospital Medicine
https://www.readbyqxmd.com/read/28394008/large-thoracic-tumor-without-superior-vena-cava-syndrome
#12
Nikolaos Garmpis, Christos Damaskos, Nikolaos Patelis, Dimitrios Dimitroulis, Eleftherios Spartalis, Ioannis Tomos, Anna Garmpi, Michael Spartalis, Efstathios A Antoniou, Konstantinos Kontzoglou, Periklis Tomos
A 62 year-old male with long-standing smoking history presented with hemoptysis. Plain chest x-ray showed abnormal findings proximate to the right pulmonary hilum. Bronchoscopy revealed a fragile exophytic tumor of the right wall of the lower third of the trachea, infiltrating the right main bronchus (75% stenosis) and the right upper lobar bronchus (near total occlusion). Contrast-enhanced chest CT demonstrated a 7.2x4.9 cm tumor contiguous to the above-mentioned structures, mediastinal lymph node pathology, and a vessel coursing inferiorly to the left of the aortic arch and anterior to the left hilum...
April 10, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28393740/precursors-to-language-development-in-typically-and-atypically-developing-infants-and-toddlers-the-importance-of-embracing-complexity
#13
Dean D'Souza, Hana D'Souza, Annette Karmiloff-Smith
In order to understand how language abilities emerge in typically and atypically developing infants and toddlers, it is important to embrace complexity in development. In this paper, we describe evidence that early language development is an experience-dependent process, shaped by diverse, interconnected, interdependent developmental mechanisms, processes, and abilities (e.g. statistical learning, sampling, functional specialization, visual attention, social interaction, motor ability). We also present evidence from our studies on neurodevelopmental disorders (e...
April 10, 2017: Journal of Child Language
https://www.readbyqxmd.com/read/28392093/high-fragility-of-the-soil-organic-c-pools-in-mangrove-forests
#14
X L Otero, A Méndez, G N Nóbrega, T O Ferreira, M J Santiso-Taboada, W Meléndez, F Macías
Mangrove forests play an important role in biogeochemical cycle of C, storing large amounts of organic carbon. However, these functions can be controlled by the high spatial heterogeneity of these intertidal environments. In this study were performed an intensive sampling characterizing mangrove soils under different type of vegetation (Rhizophora/Avicennia/dead mangrove) in the Venezuelan coast. The soils were anoxic, with a pH~7; however other soil parameters varied widely (e.g., clay, organic carbon). Dead mangrove area showed a significant lower amounts of total organic carbon (TOC) (6...
April 6, 2017: Marine Pollution Bulletin
https://www.readbyqxmd.com/read/28391068/abnormal-trajectories-in-cerebellum-and-brainstem-volumes-in-carriers-of-the-fragile-x-premutation
#15
Jun Yi Wang, David Hessl, Randi J Hagerman, Tony J Simon, Flora Tassone, Emilio Ferrer, Susan M Rivera
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder typically affecting male premutation carriers with 55-200 CGG trinucleotide repeat expansions in the FMR1 gene after age 50. The aim of this study was to examine whether cerebellar and brainstem changes emerge during development or aging in late life. We retrospectively analyzed magnetic resonance imaging scans from 322 males (age 8-81 years). Volume changes in the cerebellum and brainstem were contrasted with those in the ventricles and whole brain...
March 18, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28387201/challenges-in-prenatal-screening-and-counselling-for-fragile-x-syndrome
#16
EDITORIAL
A Sl Mak, K Y Leung
No abstract text is available yet for this article.
April 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/28377694/drosophila-melanogaster-as-a-model-organism-to-study-rna-toxicity-of-repeat-expansion-associated-neurodegenerative-and-neuromuscular-diseases
#17
REVIEW
Alex C Koon, Ho Yin Edwin Chan
For nearly a century, the fruit fly, Drosophila melanogaster, has proven to be a valuable tool in our understanding of fundamental biological processes, and has empowered our discoveries, particularly in the field of neuroscience. In recent years, Drosophila has emerged as a model organism for human neurodegenerative and neuromuscular disorders. In this review, we highlight a number of recent studies that utilized the Drosophila model to study repeat-expansion associated diseases (READs), such as polyglutamine diseases, fragile X-associated tremor/ataxia syndrome (FXTAS), myotonic dystrophy type 1 (DM1) and type 2 (DM2), and C9ORF72-associated amyotrophic lateral sclerosis/frontotemporal dementia (C9-ALS/FTD)...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28377409/impaired-phagocytosis-in-fragile-x
#18
Alexandra A Mushegian
Defects in phagocytosis underlie both neurological and immunological symptoms in a fly model of fragile X syndrome.
April 4, 2017: Science Signaling
https://www.readbyqxmd.com/read/28372982/neural-correlates-of-face-processing-in-etiologically-distinct-12-month-old-infants-at-high-risk-of-autism-spectrum-disorder
#19
Maggie W Guy, John E Richards, Bridgette L Tonnsen, Jane E Roberts
Neural correlates of face processing were examined in 12-month-olds at high-risk for autism spectrum disorder (ASD), including 21 siblings of children with ASD (ASIBs) and 15 infants with fragile X syndrome (FXS), as well as 21 low-risk (LR) controls. Event-related potentials were recorded to familiar and novel face and toy stimuli. All infants demonstrated greater N290 amplitude to faces than toys. At the Nc component, LR infants showed greater amplitude to novel stimuli than to their mother's face and own toy, whereas infants with FXS showed the opposite pattern of responses and ASIBs did not differentiate based on familiarity...
March 16, 2017: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/28370141/increased-transient-na-conductance-and-action-potential-output-in-layer-2-3-prefrontal-cortex-neurons-of-the-fmr1-y-mouse
#20
Brandy N Routh, Rahul K Rathour, Michael E Baumgardner, Brian E Kalmbach, Daniel Johnston, Darrin H Brager
Fragile X syndrome is the most common form of inherited mental impairment and autism. The prefrontal cortex is responsible for higher order cognitive processing, and prefrontal dysfunction is believed to underlie many of the cognitive and behaviour phenotypes associated with Fragile X syndrome. We recently demonstrated that somatic and dendritic excitability of layer 5 pyramidal neurons in the prefrontal cortex of the fmr1-/y mouse is significantly altered due to changes in several voltage-gated ion channels...
March 31, 2017: Journal of Physiology
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