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Intellectual deficiency

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https://www.readbyqxmd.com/read/29899685/securing-rights-and-nutritional-health-for-persons-with-intellectual-disabilities-a-pressing-challenge
#1
Svein Olav Kolset, Marianne Nordstrøm, Sigrun Hope, Kjetil Retterstøl, Per Ole Iversen
Persons with intellectual disabilities (ID) are dependent on nutritional policies that have so far not been addressed in a systematic and health-promoting manner in Norway and other nations with a high socioeconomic standard. In many poor countries, such issues have not even been raised nor addressed. Nutritional issues facing persons with ID include the risk of both underweight and overweight. Deficiency in energy, vitamins, essential fatty acids and micronutrients can increase the risk of additional health burdens in already highly vulnerable individuals...
2018: Food & Nutrition Research
https://www.readbyqxmd.com/read/29895670/cerebellar-synapse-properties-and-cerebellum-dependent-motor-and-non-motor-performance-in-dp71-null-mice
#2
Romain Helleringer, Delphine Le Verger, Xia Li, Charlotte Izabelle, Rémi Chaussenot, Mehdi Belmaati-Cherkaoui, Raoudha Dammak, Paulette Decottignies, Hervé Daniel, Micaela Galante, Cyrille Vaillend
A recent focus has been placed on the role that cerebellar dysfunctions could play in the genesis of cognitive deficits in Duchenne muscular dystrophy (DMD). However, relevant genotype-phenotype analyses are missing to define whether cerebellar defects underlie the severe cases of intellectual deficiency, which have been associated with genetic loss of the smallest product of the dmd gene, the Dp71 dystrophin. To determine for the first time whether Dp71 loss could affect cerebellar physiology and functions, we have used patch-clamp electrophysiological recordings in acute cerebellar slices and a cerebellum-dependent behavioral test battery addressing cerebellum-dependent motor and non-motor functions in Dp71-null transgenic mice...
June 12, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29886192/maternal-iodine-supplementation-improves-motor-coordination-in-offspring-by-modulating-the-mglur1-signaling-pathway-in-mild-iodine-deficiency-induced-hypothyroxinemia-rats
#3
Yuan Wang, Jun Han, Xi Chen, Xinning Zeng, Yi Wang, Jing Dong, Jie Chen
Iodine is an essential component for thyroid hormone synthesis. Epidemiological investigations have demonstrated that maternal mild iodine deficiency (ID)-induced hypothyroxinemia can affect intellectual and behavioral function in offspring. There is no definitive evidence demonstrating the effects of maternal iodine supplementation on neurobehavioral function in regional areas with mild ID. Thus, we aimed to clarify the effects of maternal mild ID and iodine supplementation on motor coordination in offspring and illuminate the underlying molecular mechanisms...
May 1, 2018: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/29869163/characteristics-and-outcomes-of-patients-with-formiminoglutamic-aciduria-detected-through-newborn-screening
#4
Rebecca C Ahrens-Nicklas, Rebecca D Ganetzky, Peggy W Rush, Robert L Conway, Can Ficicioglu
BACKGROUND: Glutamate formiminotransferase deficiency (FTCD deficiency) or formiminoglutamic aciduria is the second most common of the known inherited disorders of folate metabolism. Initial case reports suggested that patients may have severe intellectual disability and megaloblastic anemia. However, these cases were obtained from screening cohorts of patients with developmental delay. Subsequently, patients with milder clinical phenotypes have been reported. The full phenotypic spectrum of this disorder remains unknown...
June 4, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29864448/altered-release-and-uptake-of-gamma-aminobutyric-acid-in-the-cerebellum-of-dystrophin-deficient-mice
#5
Janyerson Dannys Pereira da Silva, Diego Vannucci Campos, Fabiana Moreira Nogueira-Bechara, Roberta Sessa Stilhano, Sang Won Han, Rita Sinigaglia-Coimbra, Maria Teresa R Lima-Landman, Antônio José Lapa, Caden Souccar
Dystrophin deficiency caused by mutations of the related gene leads to muscle wasting in Duchenne muscular dystrophy (DMD). Some patients with DMD also present with intellectual disability and various degrees of neurological disorders, which have been related to a decreased number of postsynaptic gamma-aminobutyric acid type A receptors (GABAA Rs) in the hippocampus (HPC) and cerebellum (CBL). The aim of this study was to examine the relevance of dystrophin in the presynaptic GABAergic function in brain regions in which this protein is normally abundant...
June 1, 2018: Neurochemistry International
https://www.readbyqxmd.com/read/29859105/retinal-and-optic-nerve-degeneration-in-%C3%AE-mannosidosis
#6
Juliane Matlach, Thea Zindel, Yasmina Amraoui, Laila Arash-Kaps, Julia B Hennermann, Susanne Pitz
BACKGROUND: α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of α-mannosidase. Typical symptoms include intellectual, motor and hearing impairment, facial coarsening, and musculoskeletal abnormalities. Ocular pathologies reported previously were mainly opacities of the cornea and lens, strabismus, and ocular motility disorders. However, retinal and optic nerve degeneration have been rarely described. METHODS: We report ocular findings of 32 patients with α-mannosidosis...
June 1, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29851532/hypoparathyroidism-concomitant-with-macrothrombocytopenia-in-an-elderly-woman-with-22q11-2-deletion-syndrome
#7
Hsiu-Chien Yang, Shih-Hua Lin, Yi-Ying Wu, Chih-Chien Sung
We describe the case of a 62-year-old woman with schizophrenia and intellectual disability, who presented with intermittent muscle cramping for 2 weeks. A dysmorphic face and a positive Trousseau's sign, but without ecchymosis or petechial lesion were noted. Laboratory data revealed impaired renal function (creatinine level = 1.6 mg/dL), severe hypocalcaemia (total calcium level = 5.7 mg/dL) with low urinary calcium excretion (13.2 mg/day), hyperphosphatemia (phosphate level = 7.3 mg/dL), and low intact parathyroid hormone level (52...
May 31, 2018: Platelets
https://www.readbyqxmd.com/read/29789193/deoxysphingolipid-precursors-indicate-abnormal-sphingolipid-metabolism-in-individuals-with-primary-and-secondary-disturbances-of-serine-availability
#8
C R Ferreira, S M I Goorden, A Soldatos, H M Byers, J M M Ghauharali-van der Vlugt, F S Beers-Stet, C Groden, C D van Karnebeek, W A Gahl, F M Vaz, X Jiang, H J Vernon
Patients with primary serine biosynthetic defects manifest with intellectual disability, microcephaly, ichthyosis, seizures and peripheral neuropathy. The underlying pathogenesis of peripheral neuropathy in these patients has not been elucidated, but could be related to a decrease in the availability of certain classical sphingolipids, or to an increase in atypical sphingolipids. Here, we show that patients with primary serine deficiency have a statistically significant elevation in specific atypical sphingolipids, namely deoxydihydroceramides of 18-22 carbons in acyl length...
May 7, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29788428/puf60-activated-exons-uncover-altered-3-splice-site-selection-by-germline-missense-mutations-in-a-single-rrm
#9
Jana Královicová, Ivana Ševcíková, Eva Stejskalová, Mina Obuca, Michael Hiller, David Stanek, Igor Vorechovský
PUF60 is a splicing factor that binds uridine (U)-rich tracts and facilitates association of the U2 small nuclear ribonucleoprotein with primary transcripts. PUF60 deficiency (PD) causes a developmental delay coupled with intellectual disability and spinal, cardiac, ocular and renal defects, but PD pathogenesis is not understood. Using RNA-Seq, we identify human PUF60-regulated exons and show that PUF60 preferentially acts as their activator. PUF60-activated internal exons are enriched for Us upstream of their 3' splice sites (3'ss), are preceded by longer AG dinucleotide exclusion zones and more distant branch sites, with a higher probability of unpaired interactions across a typical branch site location as compared to control exons...
May 18, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29783990/severe-hepatopathy-and-neurological-deterioration-after-start-of-valproate-treatment-in-a-6-year-old-child-with-mitochondrial-tryptophanyl-trna-synthetase-deficiency
#10
Elise Vantroys, Joél Smet, Arnaud V Vanlander, Sarah Vergult, Ruth De Bruyne, Frank Roels, Hedwig Stepman, Herbert Roeyers, Björn Menten, Rudy Van Coster
BACKGROUND: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype, Parkinson-like phenotype). RESULTS: Here, we report on a subject who presented with early developmental delay, motor weakness and intellectual disability and who was considered during several years as having a non-progressive encephalopathy...
May 21, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29768408/a-homozygous-kat2b-variant-modulates-the-clinical-phenotype-of-add3-deficiency-in-humans-and-flies
#11
Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, Jane Juusola, Thierry Billette de Villemeur, Caroline Nava, Alexandra Afenjar, Boris Keren, Rolf Bodmer, Corinne Antignac, Matias Simons
Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which animal models such as Drosophila can provide a valuable aid. Here, we identified three families with mutations in ADD3, encoding for adducin-γ, with intellectual disability, microcephaly, cataracts and skeletal defects. In one of the families with additional cardiomyopathy and steroid-resistant nephrotic syndrome (SRNS), we found a homozygous variant in KAT2B, encoding the lysine acetyltransferase 2B, with impact on KAT2B protein levels in patient fibroblasts, suggesting that this second mutation might contribute to the increased disease spectrum...
May 16, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29760529/de-novo-nonsense-mutation-in-whsc1-nsd2-in-patient-with-intellectual-disability-and-dysmorphic-features
#12
Ekaterina R Lozier, Fedor A Konovalov, Ilya V Kanivets, Denis V Pyankov, Philip A Koshkin, Larisa S Baleva, Alla E Sipyagina, Elena N Yakusheva, Anastasiya E Kuchina, Sergey A Korostelev
Intellectual disability is the most common developmental disorder caused by chromosomal aberrations as well as single-nucleotide variants (SNVs) and small insertions/deletions (indels). Here we report identification of a novel, probably pathogenic mutation in the WHSC1 gene in a patient case with phenotype overlapping the features of Wolf-Hirschhorn syndrome. Deletions involving WHSC1 (Wolf-Hirschhorn syndrome candidate 1 gene) were described earlier in patients with Wolf-Hirschhorn syndrome. However, to our knowledge, single-point mutations in WHSC1 associated with any intellectual deficiency syndromes have not been reported...
May 14, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29758347/gene-analysis-a-rare-gene-disease-of-intellectual-deficiency-cohen-syndrome
#13
Chengqing Yang, Mei Hou, Yutang Li, Dianrong Sun, Ya Guo, Peipei Liu, Yedan Liu, Jie Song, Na Zhang, Wei Wei, Zongbo Chen
Cohen syndrome is a rare, genetic, connective-tissue disorder, which is caused by mutations in the gene COH1 (VPS13B, Vacuolar Protein Sorting 13 Homolog B) at the chromosome 8q22. The disease is rare reported, which major clinical features include postnatal microcephaly, obesity, short stature, intellectual disability, progressive retinal dystrophy, intermittent neutropenia and many other unusual facial feature. We report four patients in China who were diagnosed with Cohen syndrome by genetic testing and clinical manifestations...
May 11, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29748569/a-novel-naa10-variant-with-impaired-acetyltransferase-activity-causes-developmental-delay-intellectual-disability-and-hypertrophic-cardiomyopathy
#14
Svein Isungset Støve, Marina Blenski, Asbjørg Stray-Pedersen, Klaas J Wierenga, Shalini N Jhangiani, Zeynep Coban Akdemir, David Crawford, Nina McTiernan, Line M Myklebust, Gabriela Purcarin, Rene McNall-Knapp, Alexandrea Wadley, John W Belmont, Jeffrey J Kim, James R Lupski, Thomas Arnesen
The NAA10-NAA15 complex (NatA) is an N-terminal acetyltransferase that catalyzes N-terminal acetylation of ~40% of all human proteins. N-terminal acetylation has several different roles in the cell, including altering protein stability and degradation, protein localization and protein-protein interactions. In recent years several X-linked NAA10 variants have been associated with genetic disorders. We have identified a previously undescribed NAA10 c.215T>C p.(Ile72Thr) variant in three boys from two unrelated families with a milder phenotypic spectrum in comparison to most of the previously described patients with NAA10 variants...
May 10, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29724491/clinical-presentation-of-a-complex-neurodevelopmental-disorder-caused-by-mutations-in-adnp
#15
Anke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, Ilse M van der Werf, Grazia M Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B A de Vries, Sébastien Küry, Jill A Rosenfeld, Marije E Meuwissen, Geert Vandeweyer, R Frank Kooy
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents...
March 15, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29704315/epigenetics-and-autism-spectrum-disorder-a-report-of-an-autism-case-with-mutation-in-h1-linker-histone-hist1h1e-and-literature-review
#16
Lara J Duffney, Purnima Valdez, Martine W Tremblay, Xinyu Cao, Sarah Montgomery, Allyn McConkie-Rosell, Yong-Hui Jiang
Genetic mutations in genes encoding proteins involved in epigenetic machinery have been reported in individuals with autism spectrum disorder (ASD), intellectual disability, congenital heart disease, and other disorders. H1 histone linker protein, the basic component in nucleosome packaging and chromatin organization, has not been implicated in human disease until recently. We report a de novo deleterious mutation of histone cluster 1 H1 family member e (HIST1H1E; c.435dupC; p.Thr146Hisfs*50), encoding H1 histone linker protein H1...
April 27, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29700199/functional-characterization-of-dyrk1a-missense-variants-associated-with-a-syndromic-form-of-intellectual-deficiency-and-autism
#17
Esti Wahyu Widowati, Sabrina Ernst, Ralf Hausmann, Gerhard Müller-Newen, Walter Becker
Haploinsufficiency of DYRK1A is a cause of a neurodevelopmental syndrome termed mental retardation autosomal dominant 7 (MRD7). Several truncation mutations, microdeletions and missense variants have been identified and result in a recognizable phenotypic profile, including microcephaly, intellectual disability, epileptic seizures, autism spectrum disorder and language delay. DYRK1A is an evolutionary conserved protein kinase which achieves full catalytic activity through tyrosine autophosphorylation. We used a heterologous mammalian expression system to explore the functional characteristics of pathogenic missense variants that affect the catalytic domain of DYRK1A...
April 26, 2018: Biology Open
https://www.readbyqxmd.com/read/29698489/altered-distribution-of-atg9a-and-accumulation-of-axonal-aggregates-in-neurons-from-a-mouse-model-of-ap-4-deficiency-syndrome
#18
Raffaella De Pace, Miguel Skirzewski, Markus Damme, Rafael Mattera, Jeffrey Mercurio, Arianne M Foster, Loreto Cuitino, Michal Jarnik, Victoria Hoffmann, H Douglas Morris, Tae-Un Han, Grazia M S Mancini, Andrés Buonanno, Juan S Bonifacino
The hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of disorders characterized by progressive lower limb spasticity. Mutations in subunits of the heterotetrameric (ε-β4-μ4-σ4) adaptor protein 4 (AP-4) complex cause an autosomal recessive form of complicated HSP referred to as "AP-4 deficiency syndrome". In addition to lower limb spasticity, this syndrome features intellectual disability, microcephaly, seizures, thin corpus callosum and upper limb spasticity...
April 26, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29681103/comparison-of-perinatal-factors-in-deletion-versus-uniparental-disomy-in-prader-willi-syndrome
#19
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
#20
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...
May 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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