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https://www.readbyqxmd.com/read/30549416/gpr126-a-novel-candidate-gene-implicated-in-autosomal-recessive-intellectual-disability
#1
Masoumeh Hosseini, Zohreh Fattahi, Seyedeh Sedigheh Abedini, Hao Hu, Hans-H Ropers, Vera M Kalscheuer, Hossein Najmabadi, Kimia Kahrizi
Intellectual disability (ID), a genetically and clinically heterogeneous disorder, affects 1%-3% of the general population and is a major health problem, especially in developing countries and in populations with a high frequency of consanguineous marriage. Using whole exome sequencing, a homozygous missense variation (c.3264G>C, p.W1088C) in a plausible disease causing gene, GPR126, was identified in two patients presenting with profound ID, severe speech impairment, microcephaly, seizures during infancy, and spasticity accompanied by cerebellar hypoplasia...
December 14, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30548847/childhood-disintegrative-disorder-and-autism-spectrum-disorder-a-systematic-review
#2
REVIEW
Chirag Mehra, Annesha Sil, Tammy Hedderly, Marinos Kyriakopoulos, Ming Lim, Jessica Turnbull, Francesca Happe, Gillian Baird, Michael Absoud
AIM: In an attempt to clarify the debate surrounding the diagnostic validity of childhood disintegrative disorder (CDD), we systematically reviewed its characteristics and compared it with autism spectrum disorder (ASD). METHOD: Four databases were searched (PubMed, PsycINFO, Embase, and Web of Science). Included articles had participants with CDD, as defined by symptoms present in the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision and the International Classification of Diseases, 10th Revision...
December 13, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/30548255/a-study-in-a-polish-ataxia-cohort-indicates-genetic-heterogeneity-and-points-to-mtcl1-as-a-novel-candidate-gene
#3
Magdalena Krygier, Mariusz Kwarciany, Krystyna Wasilewska, Victor Murcia Pienkowski, Natalia Krawczyńska, Daniel Zielonka, Joanna Kosińska, Piotr Stawinski, Monika Rudzińska-Bar, Magdalena Boczarska-Jedynak, Bartosz Karaszewski, Janusz Limon, Jarosław Sławek, Rafał Płoski, Małgorzata Rydzanicz
Inherited ataxias are a group of highly heterogeneous, complex neurological disorders representing a significant diagnostic challenge in clinical practice. We performed next generation sequencing analysis in 10 index cases with unexplained progressive cerebellar ataxia of suspected autosomal recessive inheritance. A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), POLR3B-related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann-Pick disease type C1 and SYNE1-related ataxia...
December 11, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/30547349/a-review-of-filamin-a-mutations-and-associated-interstitial-lung-disease
#4
REVIEW
Erina Sasaki, Angela T Byrne, Ethna Phelan, Desmond W Cox, William Reardon
The filamin A gene (FLNA) on Xq28 encodes the filamin A protein. Mutation in FLNA causes a wide spectrum of disease including skeletal dysplasia, neuronal migration abnormality, cardiovascular malformation, intellectual disability and intestinal obstruction. Recently, childhood-onset interstitial lung disease associated with a range of FLNA mutations has been recognised and reported. We document our personal experience of this emerging disorder and compile a comprehensive overview of clinical features and molecular changes in all identifiable published cases...
December 13, 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/30544565/polyamine-homeostasis-in-snyder-robinson-syndrome
#5
Tracy Murray-Stewart, Matthew Dunworth, Jackson R Foley, Charles E Schwartz, Robert A Casero
Loss-of-function mutations of the spermine synthase gene ( SMS ) result in Snyder-Robinson Syndrome (SRS), a recessive X-linked syndrome characterized by intellectual disability, osteoporosis, hypotonia, speech abnormalities, kyphoscoliosis, and seizures. As SMS catalyzes the biosynthesis of the polyamine spermine from its precursor spermidine, SMS deficiency causes a lack of spermine with an accumulation of spermidine. As polyamines, spermine, and spermidine play essential cellular roles that require tight homeostatic control to ensure normal cell growth, differentiation, and survival...
December 7, 2018: Medical Sciences: Open Access Journal
https://www.readbyqxmd.com/read/30544290/neurocognitive-changes-in-pituitary-adenoma-patients-after-gamma-knife-radiosurgery
#6
(no author information available yet)
OBJECTIVEPituitary adenomas and the treatment required for the underlying neuropathology have frequently been associated with cognitive dysfunction. However, the mechanisms for these impairments remain the subject of much debate. The authors evaluated cognitive outcomes in patients treated with or without Gamma Knife radiosurgery (GKRS) for an underlying pituitary adenoma.METHODSThis was a retrospective, institutional review board-approved, single-institution study. A total of 51 patients (23 male, 28 female) treated for pituitary adenoma were included in this neurocognitive study...
December 1, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/30542367/fragile-x-associated-primary-ovarian-insufficiency-fxpoi-case-report-and-literature-review
#7
REVIEW
Dorothy A Fink, Lawrence M Nelson, Reed Pyeritz, Josh Johnson, Stephanie L Sherman, Yoram Cohen, Shai E Elizur
Abnormalities in the X-linked FMR1 gene are associated with a constellation of disorders, which have broad and profound implications for the person first diagnosed, and extended family members of all ages. The rare and pleiotropic nature of the associated disorders, both common and not, place great burdens on (1) the affected families, (2) their care providers and clinicians, and (3) investigators striving to conduct research on the conditions. Fragile X syndrome, occurring more severely in males, is the leading genetic cause of intellectual disability...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/30542205/atypical-cerebral-palsy-genomics-analysis-enables-precision-medicine
#8
Allison M Matthews, Ingrid Blydt-Hansen, Basmah Al-Jabri, John Andersen, Maja Tarailo-Graovac, Magda Price, Katherine Selby, Michelle Demos, Mary Connolly, Britt Drögemoller, Casper Shyr, Jill Mwenifumbo, Alison M Elliott, Jessica Lee, Aisha Ghani, Sylvia Stöckler, Ramona Salvarinova, Hilary Vallance, Graham Sinclair, Colin J Ross, Wyeth W Wasserman, Margaret L McKinnon, Gabriella A Horvath, Helly Goez, Clara D van Karnebeek
PURPOSE: The presentation and etiology of cerebral palsy (CP) are heterogeneous. Diagnostic evaluation can be a prolonged and expensive process that might remain inconclusive. This study aimed to determine the diagnostic yield and impact on management of next-generation sequencing (NGS) in 50 individuals with atypical CP (ACP). METHODS: Patient eligibility criteria included impaired motor function with onset at birth or within the first year of life, and one or more of the following: severe intellectual disability, progressive neurological deterioration, other abnormalities on neurological examination, multiorgan disease, congenital anomalies outside of the central nervous system, an abnormal neurotransmitter profile, family history, brain imaging findings not typical for cerebral palsy...
December 13, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30536559/a-resistance-exercise-set-for-a-total-body-workout-for-adults-with-intellectual-disabilities-a-pilot-study
#9
Stijn Weterings, Alyt Oppewal, Florien M M van Eeden, Thessa I M Hilgenkamp
BACKGROUND: Resistance training has beneficial effects on fitness levels, cardiovascular disease risk, risk of sarcopenia and on performing activities of daily living. The focus of this study is to design a total body resistance exercise set for adults with intellectual disabilities (RESID) with minimal equipment required and to test its feasibility. METHOD: The RESID was selected in an expert meeting, and its feasibility was determined in a cross-sectional pilot study...
December 10, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/30532362/giant-axonal-neuropathy-clinical-radiological-and-genetic-features
#10
Meenal Garg, Shilpa D Kulkarni, Anaita Udwadia Hegde, Margi Desai, Rafat J Sayed
Introduction: Giant axonal neuropathy (GAN) is an inherited neurodegenerative disorder caused by mutations in the GAN gene. It affects both the central and peripheral nervous systems. We discuss clinical, electrophysiological, radiological and genetic features in three new unrelated patients with GAN. Methods: Three pediatric patients with suspected GAN were included. The diagnosis was considered in patients with early onset polyneuropathy and characteristic hair with central nervous system involvement or suggestive neuroimaging findings...
October 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/30528856/developmental-changes-in-eeg-phenotypes-in-a-mouse-model-of-fragile-x-syndrome
#11
Teresa H Wen, Jonathan W Lovelace, Iryna M Ethell, Devin K Binder, Khaleel A Razak
Fragile X Syndrome (FXS) is a leading genetic cause of autism and intellectual disabilities. Sensory processing deficits are common in humans with FXS and an animal model, the Fmr1 knockout (KO) mouse, manifesting in the auditory system as debilitating hypersensitivity and abnormal electroencephalographic (EEG) and event-related potential (ERP) phenotypes. FXS is a neurodevelopmental disorder, but how EEG/ERP phenotypes change during development is unclear. Therefore, we characterized baseline and stimulus-evoked EEG in auditory and frontal cortex of developing (postnatal day (P) 21 and P30) and adult (P60) wildtype (WT) and Fmr1 KO mice with the FVB genetic background...
December 4, 2018: Neuroscience
https://www.readbyqxmd.com/read/30526868/bi-allelic-tmem94-truncating-variants-are-associated-with-neurodevelopmental-delay-congenital-heart-defects-and-distinct-facial-dysmorphism
#12
Joshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri, John D Burke, Matthew Herzog, Anju Shukla, Katharina Steindl, Ascia Eskin, Siddaramappa J Patil, Pascal Joset, Hane Lee, Lisa J Garrett, Tadafumi Yokoyama, Nicholas Balanda, Steven P Bodine, Nathanial J Tolman, Patricia M Zerfas, Allison Zheng, Georgia Ramantani, Katta M Girisha, Cecilia Rivas, Pujar V Suresh, Abdel Elkahloun, Hessa S Alsaif, Salma M Wakil, Laila Mahmoud, Rehab Ali, Michaela Prochazkova, Ashok B Kulkarni, Tawfeg Ben-Omran, Dilek Colak, H Douglas Morris, Anita Rauch, Julian A Martinez-Agosto, Stanley F Nelson, Fowzan S Alkuraya, William A Gahl, May Christine V Malicdan
Neurodevelopmental disorders (NDD) are genetically and phenotypically heterogeneous conditions due to defects in genes involved in development and function of the nervous system. Individuals with NDD, in addition to their primary neurodevelopmental phenotype, may also have accompanying syndromic features that can be very helpful diagnostically especially those with recognizable facial appearance. In this study, we describe ten similarly affected individuals from six unrelated families of different ethnic origins having bi-allelic truncating variants in TMEM94, which encodes for an uncharacterized transmembrane nuclear protein that is highly conserved across mammals...
December 6, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30526862/variants-in-pus7-cause-intellectual-disability-with-speech-delay-microcephaly-short-stature-and-aggressive-behavior
#13
Arjan P M de Brouwer, Rami Abou Jamra, Nadine Körtel, Clara Soyris, Daniel L Polla, Modi Safra, Avia Zisso, Christopher A Powell, Pedro Rebelo-Guiomar, Nadja Dinges, Violeta Morin, Michael Stock, Mureed Hussain, Mohsin Shahzad, Saima Riazuddin, Zubair M Ahmed, Rolph Pfundt, Franziska Schwarz, Lonneke de Boer, André Reis, Detilina Grozeva, F Lucy Raymond, Sheikh Riazuddin, David A Koolen, Michal Minczuk, Jean-Yves Roignant, Hans van Bokhoven, Schraga Schwartz
We describe six persons from three families with three homozygous protein truncating variants in PUS7: c.89_90del (p.Thr30Lysfs∗ 20), c.1348C>T (p.Arg450∗ ), and a deletion of the penultimate exon 15. All these individuals have intellectual disability with speech delay, short stature, microcephaly, and aggressive behavior. PUS7 encodes the RNA-independent pseudouridylate synthase 7. Pseudouridylation is the most abundant post-transcriptional modification in RNA, which is primarily thought to stabilize secondary structures of RNA...
December 6, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30524854/environmental-assessment-and-blood-lead-levels-of-children-in-owino-uhuru-and-bangladesh-settlements-in-kenya
#14
Nancy A Etiang', Wences Arvelo, Tura Galgalo, Samwel Amwayi, Zeinab Gura, Jackson Kioko, Gamaliel Omondi, Shem Patta, Sara A Lowther, Mary Jean Brown
Background: Lead exposure is linked to intellectual disability and anemia in children. The United States Centers for Disease Control and Prevention (CDC) recommends biomonitoring of blood lead levels (BLLs) in children with BLL ≥5 μg/dL and chelation therapy for those with BLL ≥45 μg/dL. Objectives: This study aimed to determine blood and environmental lead levels and risk factors associated with elevated BLL among children from Owino Uhuru and Bangladesh settlements in Mombasa County, Kenya...
June 2018: Journal of health & pollution
https://www.readbyqxmd.com/read/30524732/patent-challenges-in-the-procurement-and-supply-of-generic-new-essential-medicines-and-lessons-from-hiv-in-the-southern-african-development-community-sadc-region
#15
REVIEW
Ellen F M 't Hoen, Tapiwanashe Kujinga, Pascale Boulet
High medicines prices increasingly pose challenges for universal access to treatments of communicable and non-communicable diseases. New essential medicines are often patent-protected which sustains high prices in many countries, including in low- and middle-income countries. To respond to the HIV/AIDS crisis of the late nineties and to increase access to antiretroviral treatment, certain flexibilities contained in the Agreement on Trade Related Aspects of Intellectual Property Rights (TRIPS flexibilities) have been clarified and in some respects strengthened at the global level...
2018: Journal of Pharmaceutical Policy and Practice
https://www.readbyqxmd.com/read/30523767/de-novo-ligand-design-against-mutated-huntington-gene-by-ligand-based-pharmacophore-modeling-approach
#16
Anum Munir, Shaukat Iqbal Malik, Khalid Akhtar Malik
BACKGROUND: Huntington's disease is characterized by three side effects, including motor disturbances, psychiatric elements, and intellectual weakness. The onset for HD has nonlinear converse associations with the number of repeat sequences of the polyglutamine mutations, so that younger patients have a tendency for longer repeats length. This HD variation is because of a development of a polyglutamine (CAG) repeats in the exon 1 of the Huntingtin protein. METHODS: In the present study, a few derivatives utilized as a part of the treatment of HD, are used to create the pharmacophore model and based on the features of the pharmacophore model; an attempt is made to design the de-novo drug for the HD protein...
December 6, 2018: Current Computer-aided Drug Design
https://www.readbyqxmd.com/read/30517966/ubtf-mutation-causes-complex-phenotype-of-neurodegeneration-and-severe-epilepsy-in-childhood
#17
Lucie Sedláčková, Petra Laššuthová, Katalin Štěrbová, Jana Haberlová, Emílie Vyhnálková, Jana Neupauerová, David Staněk, Marie Šedivá, Pavel Kršek, Pavel Seeman
INTRODUCTION:  Neurodegenerative diseases of childhood present with progressive decline in cognitive, social, and motor function and are frequently associated with seizures in different stages of the disease. Here we report a patient with severe progressive neurodegeneration with drug-resistant epilepsy of unknown etiology from the age of 2 years. METHODS AND RESULTS:  Using whole exome sequencing, we found heterozygous missense de novo variant c.628G > A (p...
December 5, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30511829/brain-penetrable-histone-deacetylase-6-inhibitor-sw-100-ameliorates-memory-and-learning-impairments-in-a-mouse-model-of-fragile-x-syndrome
#18
Alan Kozikowski, Sida Shen, Marta Pardo, Mauricio Temotheo Tavares, Dora Szarics, Veronick Benoy, Chad A Zimprich, Zsofia Kutil, GuiPing Zhang, Cyril Barinka, Matthew B Robers, Ludo Van Den Bosch, James H Eubanks, Richard S Jope
Disease-modifying therapies are needed for Fragile X syndrome (FXS), as at present there are no effective treatments or cures. Herein, we report on a tetrahydroquinoline-based selective histone deacetylase 6 (HDAC6) inhibitor SW-100, its pharmacological and ADMET properties, and its ability to improve upon memory performance in a mouse model of FXS, Fmr1-/- mice. This small molecule demonstrates good brain penetrance, low-nanomolar potency for the inhibition of HDAC6 (IC50 = 2.3 nM), with at least a thousand-fold selectivity over all other class I, II, and IV HDAC isoforms...
December 4, 2018: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/30510536/rare-copy-number-variations-and-predictors-in-children-with-intellectual-disability-and-epilepsy
#19
Miriam Kessi, Juan Xiong, Liwen Wu, Lifen Yang, Fang He, Chen Chen, Nan Pang, Haolin Duan, Wen Zhang, Ahmed Arafat, Fei Yin, Jing Peng
Introduction: The concurrence of intellectual disability/global developmental delay and epilepsy (ID/GDD-EP) is very common in the pediatric population. The etiologies for both conditions are complex and largely unknown. The predictors of significant copy number variations (CNVs) are known for the cases with ID/GDD, but unknown for those with exclusive ID/GDD-EP. Importantly, the known predictors are largely from the same ethnic group; hence, they lack replication. Purpose: We aimed to determine and investigate the diagnostic yield of CNV tests, new causative CNVs, and the independent predictors of significant CNVs in Chinese children with unexplained ID/GDD-EP...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/30506821/attitude-and-willingness-of-pediatric-dentists-regarding-dental-care-for-children-with-developmental-and-intellectual-disabilities
#20
Simi Abraham, Farhad Yeroshalmi, Keith S Margulis, Victor Badner
AIM: Children with developmental and/or intellectual disabilities (DD/ID) are considered to be at greater risk of developing dental disease and are more likely to have unmet dental needs than other children. The purpose of this study was to determine the attitude and willingness of pediatric dentists and residents to provide dental care for children with DD/ID. METHODS: Two surveys were created and emailed via SurveyMonkey® to pediatric dentists and post-doctoral student members of the American Academy of Pediatric Dentistry...
December 3, 2018: Special Care in Dentistry
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