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Intellectual deficiency

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https://www.readbyqxmd.com/read/29681103/comparison-of-perinatal-factors-in-deletion-versus-uniparental-disomy-in-prader-willi-syndrome
#1
June-Anne Gold, Ranim Mahmoud, Suzanne B Cassidy, Virginia Kimonis
Prader-Willi syndrome (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset obesity, hyperphagia, short stature, facial dysmorphism, intellectual disability, and behavioral problems. We studied perinatal factors in a cohort of 64 people with PWS resulting from paternal deletion of 15q11-q13 and maternal uniparental disomy (UPD) for chromosome 15. We recruited 34 individuals with deletion and 30 with UPD. We compared the frequency of multiple prenatal and neonatal factors with the general population as well as between the two genetic subtypes...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29680191/-cost-of-hypertrophy-due-to-intrauterine-growth-restriction-attributable-to-air-pollution-in-france
#2
C Rafenberg, I Annesi-Maesano
Exposure of pregnant women to fine particulate matter<2.5μm in diameter (PM2.5 ) is responsible for low birthweight (LBW) and intellectual disabilities, as expressed by a lower intelligence quotient (IQ). We estimated the attributable cost due to PM2.5 of healthcare at birth and cognitive retardation of children with LBW in metropolitan France in 2012. The cost of specific care of the 8300 (range, 3100-13,300) children born every year in France with a LBW attributable to PM2.5 exposure is estimated at €25 million (range, € 9...
April 18, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29668986/hits-clip-in-various-brain-areas-reveals-new-targets-and-new-modalities-of-rna-binding-by-fragile-x-mental-retardation-protein
#3
Thomas Maurin, Kevin Lebrigand, Sara Castagnola, Agnès Paquet, Marielle Jarjat, Alexandra Popa, Mauro Grossi, Florence Rage, Barbara Bardoni
Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the functional deficiency of the fragile X mental retardation protein (FMRP), an RNA-binding protein involved in translational regulation of many messenger RNAs, playing key roles in synaptic morphology and plasticity. To date, no effective treatment for FXS is available. We searched for FMRP targets by HITS-CLIP during early development of multiple mouse brain regions (hippocampus, cortex and cerebellum) at a time of brain development when FMRP is most highly expressed and synaptogenesis reaches a peak...
April 14, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29652306/-assessment-of-clinical-manifestations-and-treatment-of-post-stroke-depression-in-young-patients-with-ischemic-stroke
#4
M L Chukhlovina, A A Chukhlovin
AIM: To consider clinical manifestations and treatment of post-stroke depression in young patients with carotid ischemic stroke. MATERIAL AND METHODS: Forty patients, 24 women and 16 men, aged from 18 to 45 years old, diagnosed with ICD-10 post-stroke depression were examined. All patients underwent neurological examination, brain MRI and MR-angiography of cerebral vessels. The following psychometric tests were used: MMSE, Hamilton depression scale, CES-D depression scale, a questionnaire on nocturnal sleep assessment, and Epworth Sleepiness Scale...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29651237/dpp6-loss-impacts-hippocampal-synaptic-development-and-induces-behavioral-impairments-in-recognition-learning-and-memory
#5
Lin Lin, Jonathan G Murphy, Rose-Marie Karlsson, Ronald S Petralia, Jakob J Gutzmann, Daniel Abebe, Ya-Xian Wang, Heather A Cameron, Dax A Hoffman
DPP6 is well known as an auxiliary subunit of Kv4-containing, A-type K+ channels which regulate dendritic excitability in hippocampal CA1 pyramidal neurons. We have recently reported, however, a novel role for DPP6 in regulating dendritic filopodia formation and stability, affecting synaptic development and function. These results are notable considering recent clinical findings associating DPP6 with neurodevelopmental and intellectual disorders. Here we assessed the behavioral consequences of DPP6 loss. We found that DPP6 knockout (DPP6-KO) mice are impaired in hippocampus-dependent learning and memory...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29627578/selective-alteration-of-adult-hippocampal-neurogenesis-and-impaired-spatial-pattern-separation-performance-in-the-rsk2-deficient-mouse-model-of-coffin-lowry-syndrome
#6
Charlotte Castillon, Steeve Lunion, Nathalie Desvignes, André Hanauer, Serge Laroche, Roseline Poirier
Adult neurogenesis is involved in certain hippocampus-dependent cognitive functions and is linked to psychiatric diseases including intellectual disabilities. The Coffin-Lowry syndrome (CLS) is a developmental disorder caused by mutations in the Rsk2 gene and characterized by intellectual disabilities associated with growth retardation. How RSK2-deficiency leads to cognitive dysfunctions in CLS is however poorly understood. Here, using Rsk2 Knock-Out mice, we characterized the impact of RSK2 deficiency on adult hippocampal neurogenesis in vivo...
April 5, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29623884/tryptophan-metabolism-utility-of-plasmatic-assay-in-phenylketonuria-a-study-in-6-adult-patients
#7
Lysiane Boulet, Gérard Besson, Patrice Faure, Véronique Ducros, Christelle Corne
Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive inborn error of metabolism caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH; EC 1.14.16.1). If untreated, the disease leads to an important intellectual disability (IQ <50). Although many facts are common between phenylalanine (Phe) and tryptophan (Trp) metabolism, little is known about Trp metabolism modification in PKU. Our aim was to evaluate the modifications of Trp metabolism in a phenylketonuric population. A monocentric study was conducted between October 2016 and March 2017...
April 1, 2018: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/29621152/taurine-administration-recovers-motor-and-learning-deficits-in-an-angelman-syndrome-mouse-model
#8
Sara Guzzetti, Luciano Calzari, Lucia Buccarello, Valentina Cesari, Ivan Toschi, Stefania Cattaldo, Alessandro Mauro, Francesca Pregnolato, Silvia Michela Mazzola, Silvia Russo
Angelman syndrome (AS, MIM 105830) is a rare neurodevelopmental disorder affecting 1:10-20,000 children. Patients show moderate to severe intellectual disability, ataxia and absence of speech. Studies on both post-mortem AS human brains and mouse models revealed dysfunctions in the extra synaptic gamma-aminobutyric acid (GABA) receptors implicated in the pathogenesis. Taurine is a free intracellular sulfur-containing amino acid, abundant in brain, considered an inhibiting neurotransmitter with neuroprotective properties...
April 5, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29603837/treatment-with-the-gsk3-beta-inhibitor-tideglusib-improves-hippocampal-development-and-memory-performance-in-juvenile-but-not-adult-cdkl5-knockout-mice
#9
Claudia Fuchs, Norma Fustini, Stefania Trazzi, Laura Gennaccaro, Roberto Rimondini, Elisabetta Ciani
Cyclin-dependent kinase-like 5 (CDKL5) disorder is a severe neurodevelopmental disorder characterized by early-onset epileptic seizures, severe developmental delay, and intellectual disability. To date, no effective pharmacological treatments are available to improve the neurological phenotype that is due to mutations in the CDKL5 gene. Murine models of CDKL5 disorder have recently been generated, making the preclinical testing of pharmacological interventions possible. Using a Cdkl5 knockout (KO) mouse model, we recently demonstrated that deficiency of Cdkl5 causes defects in postnatal hippocampal development and hippocampus-dependent learning and memory...
March 30, 2018: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29599419/chitayat-hall-and-schaaf-yang-syndromes-a-common-aetiology-expanding-the-phenotype-of-magel2-related-disorders
#10
Rebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, Cheryl Cytrynbaum, Michelle M Axford, Vanessa Londero, Sharon Moalem, Jennifer Orr, Francis Rossignol, Fatima Daniela Lopes, Julie Gauthier, Nathalie Alos, Rosemarie Rupps, Margaret McKinnon, Shelin Adam, Malgorzata J M Nowaczyk, Susan Walker, Stephen W Scherer, Christina Nassif, Fadi F Hamdan, Cheri L Deal, Jean-François Soucy, Rosanna Weksberg, Patrick Macleod, Jacques L Michaud, David Chitayat
BACKGROUND: Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not been identified. METHODS AND RESULTS: We identified three unrelated families with a total of six affected patients with the clinical manifestations of Chitayat-Hall syndrome. Through whole exome or whole genome sequencing, pathogenic variants in the MAGEL2 gene were identified in all affected patients...
March 29, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29597095/speech-and-language-delay-in-a-patient-with-wdr4-mutations
#11
Xiang Chen, Yanyan Gao, Lin Yang, Bingbing Wu, Xinran Dong, Bo Liu, Yulan Lu, Wenhao Zhou, Huijun Wang
Primordial dwarfism (PD) is mainly characterized by growth deficiency with heterogeneous phenotypes. A group of genes are known to be associated with PD or PD-related syndrome. WD repeat domain 4 (WDR4) is recently reported to be responsible for PD. Here we report a 6-year-old boy from a non-consanguineous couple with motor and speech delay as well as intellectual disability. Whole exome sequencing (WES) identified a missense mutation (NM_033661.4:c.491A > C; p.(Asp164Ala)) and a small insertion (NM_033661...
March 26, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29587458/towards-an-integrative-understanding-of-trna-aminoacylation-diet-host-gut-microbiome-interactions-in-neurodegeneration
#12
Elena L Paley, George Perry
Transgenic mice used for Alzheimer's disease (AD) preclinical experiments do not recapitulate the human disease. In our models, the dietary tryptophan metabolite tryptamine produced by human gut microbiome induces tryptophanyl-tRNA synthetase (TrpRS) deficiency with consequent neurodegeneration in cells and mice. Dietary supplements, antibiotics and certain drugs increase tryptamine content in vivo. TrpRS catalyzes tryptophan attachment to tRNAtrp at initial step of protein biosynthesis. Tryptamine that easily crosses the blood-brain barrier induces vasculopathies, neurodegeneration and cell death via TrpRS competitive inhibition...
March 26, 2018: Nutrients
https://www.readbyqxmd.com/read/29580926/19q13-12-microdeletion-syndrome-fibroblasts-display-abnormal-storage-of-cholesterol-and-sphingolipids-in-the-endo-lysosomal-system
#13
Kexin Zhao, Aarnoud van der Spoel, Claudia Castiglioni, Sarah Gale, Hideji Fujiwara, Daniel S Ory, Neale D Ridgway
Microdeletions in 19q12q13.12 cause a rare and complex haploinsufficiency syndrome characterized by intellectual deficiency, developmental delays, and neurological movement disorders. Variability in the size and interval of the deletions makes it difficult to attribute the complex clinical phenotype of this syndrome to an underlying gene(s). As an alternate approach, we examined the biochemical and metabolic features of fibroblasts from an affected individual to derive clues as to the molecular basis for the syndrome...
March 24, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29554125/git1-regulates-synaptic-structural-plasticity-underlying-learning
#14
Amanda C Martyn, Krisztian Toth, Robert Schmalzigaug, Nathan G Hedrick, Ramona M Rodriguiz, Ryohei Yasuda, William C Wetsel, Richard T Premont
The signaling scaffold protein GIT1 is expressed widely throughout the brain, but its function in vivo remains elusive. Mice lacking GIT1 have been proposed as a model for attention deficit-hyperactivity disorder, due to alterations in basal locomotor activity as well as paradoxical locomotor suppression by the psychostimulant amphetamine. Since we had previously shown that GIT1-knockout mice have normal locomotor activity, here we examined GIT1-deficient mice for ADHD-like behavior in more detail, and find neither hyperactivity nor amphetamine-induced locomotor suppression...
2018: PloS One
https://www.readbyqxmd.com/read/29552027/loss-of-the-intellectual-disability-and-autism-gene-cc2d1a-and-its-homolog-cc2d1b-differentially-affect-spatial-memory-anxiety-and-hyperactivity
#15
Marta Zamarbide, Adam W Oaks, Heather L Pond, Julia S Adelman, M Chiara Manzini
Hundreds of genes are mutated in non-syndromic intellectual disability (ID) and autism spectrum disorder (ASD), with each gene often involved in only a handful of cases. Such heterogeneity can be daunting, but rare recessive loss of function (LOF) mutations can be a good starting point to provide insight into the mechanisms of neurodevelopmental disease. Biallelic LOF mutations in the signaling scaffold CC2D1A cause a rare form of autosomal recessive ID, sometimes associated with ASD and seizures. In parallel, we recently reported that Cc2d1a -deficient mice present with cognitive and social deficits, hyperactivity and anxiety...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29551474/-adaptive-functioning-in-adults-with-intellectual-deficiency-role-of-skills-during-childhood-age-and-iq-in-a-preliminary-study-of-16-adults
#16
A Minguez, M Milh
The objective of this study was to investigate the adaptive functioning of adults who had a slight to moderate intellectual deficiency, in regard of age and intellectual quotient (IQ). Cognitive and adaptive functioning were evaluated using the WAIS and VINELAND scales in 16 adults who accepted to participate in this study. We found a correlation between global IQ and each domain of the adaptive score, mostly communication skills. We also found that there was an age effect on socialization skills. Most skills were learned during infancy and adolescence, especially communication skills, which are highly stable at different ages and highly correlated with IQ...
March 15, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29543197/-clinical-effectiveness-study-of-transcranial-direct-current-stimulation-in-amblyopic-children
#17
A V Dolzhich, S E Avetisov
PURPOSE: to assess the neurophysiological effect and clinical effectiveness of transcranial direct current stimulation in combination with drug therapy in amblyopic children. MATERIAL AND METHODS: The study involved 32 healthy children in the age of 5-12 years and 97 patients of the same age with refractive strabismic amblyopia. All study subjects underwent standard examination including ophthalmological (visometry, refractometry in normal conditions and in cycloplegia, biomicroscopy, ophthalmoscopy, type of vision), neurophysiological methods (determination of retinal electric sensitivity threshold, electric lability of optic nerve, amplitude and latency period of visual evoked potentials, electroencephalogram wave amplitudes, localization of peak electrical activity area of the cerebral cortex), assessment of neuropsychic development and estimation of mental development coefficient with age tests...
2018: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/29532978/barriers-faced-by-adults-with-intellectual-disabilities-who-experience-sexual-assault-a-systematic-review-and-meta-synthesis
#18
Connie McGilloway, David Smith, Rose Galvin
BACKGROUND: Sexual violence is associated with significant morbidity and mortality. The incidence of sexual violence against adults with intellectual disability is significantly higher than in the general population. The aim of this systematic review and qualitative meta-synthesis was to explore the barriers faced by adults with intellectual disability in reporting sexual assault from the perspective of different stakeholders. METHOD: A systematic literature search was conducted to identify relevant studies...
March 13, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29531417/medicine-procurement-and-the-use-of-flexibilities-in-the-agreement-on-trade-related-aspects-of-intellectual-property-rights-2001-2016
#19
Ellen Fm 't Hoen, Jacquelyn Veraldi, Brigit Toebes, Hans V Hogerzeil
Millions of people, particularly in low- and middle-income countries, lack access to effective pharmaceuticals, often because they are unaffordable. The 2001 Ministerial Conference of the World Trade Organization (WTO) adopted the Doha Declaration on the TRIPS (Trade-Related Aspects of Intellectual Property Rights) Agreement and Public Health. The declaration recognized the implications of intellectual property rights for both new medicine development and the price of medicines. The declaration outlined measures, known as TRIPS flexibilities, that WTO Members can take to ensure access to medicines for all...
March 1, 2018: Bulletin of the World Health Organization
https://www.readbyqxmd.com/read/29524203/cognitive-and-behavioural-outcomes-of-paediatric-liver-transplantation-for-ornithine-transcarbamylase-deficiency
#20
Louise Crowe, Vicki Anderson, Winita Hardikar, Avihu Boneh
Ornithine Trans-Carbamylase (OTC) deficiency is the most common disorder of the urea cycle. Cognitive impairments in skills such as attention and executive function have been reported in individuals with OTC deficiency who are managed with medication. In some cases, children undergo liver transplantation (LTx) to correct the metabolic defect. The metabolic and medical outcomes of LTx are generally good. However, little is known about the impacts on cognition. In this study, four children (three female) completed detailed neuropsychological batteries prior to (n = 6) and following LTx (n = 8 assessments)...
March 10, 2018: JIMD Reports
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