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https://www.readbyqxmd.com/read/28334855/slc30a9-mutation-affecting-intracellular-zinc-homeostasis-causes-a-novel-cerebro-renal-syndrome
#1
Yonatan Perez, Zamir Shorer, Keren Liani-Leibson, Pauline Chabosseau, Rotem Kadir, Michael Volodarsky, Daniel Halperin, Shiran Barber-Zucker, Hanna Shalev, Ruth Schreiber, Libe Gradstein, Evgenia Gurevich, Raz Zarivach, Guy A Rutter, Daniel Landau, Ohad S Birk
A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia. Brain MRI was normal. Four of the six affected individuals also had early-onset nephropathy with features of tubulo-interstitial nephritis, hypertension and tendency for hyperkalemia, though none had rapid deterioration of renal function. Genome wide linkage analysis identified an ∼18 Mb disease-associated locus on chromosome 4 (maximal logarithm of odds score 4...
February 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334793/compound-heterozygous-mutations-in-the-gene-pigp-are-associated-with-early-infantile-epileptic-encephalopathy
#2
Devon L Johnstone, Thi Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D Wagner, Lijia Huang, Taila Hartley, Anik St-Denis, Françoise le Deist, Jacek Majewski, Dennis E Bulman, Taroh Kinoshita, David A Dyment, Kym M Boycott, Philippe M Campeau
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutations in the GPI anchor biosynthesis and remodeling pathway cause a number of developmental disorders. This group of conditions has been termed inherited GPI deficiencies (IGDs), a subgroup of congenital disorders of glycosylation; they present with variable phenotypes, often including seizures, hypotonia and intellectual disability...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334558/feasibility-and-added-value-of-executive-walkrounds-in-long-term-care-organizations-in-the-netherlands
#3
Loes van Dusseldorp, Getty Huisman-de Waal, Hub Hamers, Gert Westert, Lisette Schoonhoven
BACKGROUND: Currently available tools for the management of safety in health care are largely based on quantitative management information. Executive WalkRounds (WalkRounds [WR]) seems useful as a leadership tool to detect "soft signals"-alerts of unsafe situations or practices-and to enhance the mutual trust between frontline staff and the board of directors. The majority of the research on WR has been performed in hospitals. Therefore, a study was conducted to assess how the boards of directors of long term care organizations value WR as a leadership tool to perceive soft signals, and whether soft signals are of added value to enhance patient safety...
December 2016: Joint Commission Journal on Quality and Patient Safety
https://www.readbyqxmd.com/read/28334403/cognitive-estimation-in-non-demented-parkinson-s-disease
#4
Federica Scarpina, Alessandro Mauro, Guido E D'Aniello, Giovani Albani, Gianluca Castelnuovo, Erika Ambiel, Sarah E MacPherson
Objective: The Cognitive Estimation Test (CET) is widely used in clinical and research settings to assess the ability to produce reasonable estimates to items that individuals would not know that the exact answer (e.g., "How fast do race horses run?"). We examined the performance of non-demented Parkinson's disease (PD) patients on the CET, because previous studies reported heterogeneous results about possible cognitive estimation impairments in PD. We also examined whether PD patients improve their performance if given the chance to reconsider their initial CET responses...
March 10, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28334053/new-insights-of-altered-lipid-profile-in-fragile-x-syndrome
#5
Artuela Çaku, Nabil G Seidah, Audrey Lortie, Nancy Gagné, Patrice Perron, Jean Dubé, Francois Corbin
BACKGROUND: Fragile X Syndrome (FXS) is the main genetic cause of autism and intellectual deficiency resulting the absence of the Fragile X Mental Retardation Protein (FMRP). Clinical picture is characterized by cognitive impairment associated with a broad spectrum of psychiatric comorbidities including autism spectrum disorders and attention-deficit/hyperactivity disorders. Some of these disorders have been associated with lipid abnormalities and lower cholesterol levels. Since lipids are important for neuronal development, we aim to investigate the lipid profile of French Canadian-FXS individuals and to identify the altered components of cholesterol metabolism as well as their association with clinical profile...
2017: PloS One
https://www.readbyqxmd.com/read/28333521/barry-jacobs-2016-recipient-of-the-cfha-don-bloch-md-award
#6
John Rolland
The Don Bloch Award is presented annually by the Collaborative Family Healthcare Association (CFHA) to a person who has made singular contributions to forwarding the cause of collaborative family health care. The 2016 Don Bloch Award was presented to Dr. Barry Jacobs, a licensed clinical psychologist and family therapist who exemplifies Don's intellectual, behavioral and relational attributes. (PsycINFO Database Record
March 2017: Families, Systems & Health: the Journal of Collaborative Family Healthcare
https://www.readbyqxmd.com/read/28333473/enhanced-versus-simply-positive-a-new-condition-based-regression-analysis-to-disentangle-effects-of-self-enhancement-from-effects-of-positivity-of-self-view
#7
Sarah Humberg, Michael Dufner, Felix D Schönbrodt, Katharina Geukes, Roos Hutteman, Maarten H W van Zalk, Jaap J A Denissen, Steffen Nestler, Mitja D Back
Despite a large body of literature and ongoing refinements of analytical techniques, research on the consequences of self-enhancement (SE) is still vague about how to define SE effects, and empirical results are inconsistent. In this paper, we point out that part of this confusion is due to a lack of conceptual and methodological differentiation between effects of individual differences in how much people enhance themselves (SE) and in how positively they view themselves (positivity of self-view; PSV). We show that methods commonly used to analyze SE effects are biased because they cannot differentiate between the effects of PSV and the effects of SE...
March 23, 2017: Journal of Personality and Social Psychology
https://www.readbyqxmd.com/read/28332320/interpersonal-relationships-of-older-adults-with-an-intellectual-disability-in-ireland
#8
Darren McCausland, Philip McCallion, Damien Brennan, Mary McCarron
BACKGROUND: People with intellectual disability tend to have smaller social networks than other groups, with even those living in community-based residences comparatively worse off. MATERIALS AND METHODS: Analysis of data from the Intellectual Disability Supplement to The Irish Longitudinal Study on Ageing (IDS-TILDA) (n = 701) examined measures of interpersonal relationships and interactions. Predictors of family contact and having non-resident friends were also explored...
March 23, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28332313/-with-a-touch-of-a-button-staff-perceptions-on-integrating-technology-in-an-irish-service-provider-for-people-with-intellectual-disabilities
#9
Stacy Clifford Simplican, Carolyn Shivers, June Chen, Geraldine Leader
BACKGROUND: People with intellectual disabilities continue to underutilize technology, in part due to insufficient training. Because support staff professionals provide instructional support, how they perceive integrating new technologies is important for people with intellectual disabilities. METHOD: The authors conducted a sequential mixed-methods exploratory study (quan→QUAL) including quantitative data from online surveys completed by 46 staff members and qualitative data from five focus groups attended by 39 staff members...
March 23, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28332285/early-detection-of-dementia-in-people-with-an-intellectual-disability-a-german-pilot-study
#10
Bettina Kuske, Christian Wolff, Uwe Gövert, Sandra Verena Müller
BACKGROUND: This study investigated the application of a newly developed neuropsychological assessment, the Wolfenbütteler Dementia Test for Individuals with Intellectual Disabilities (WDTIM) in combination with the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID). METHODS: The instruments were evaluated in a prospective 2-year follow-up study. A total of 102 people with an intellectual disability were assessed at 6-month intervals...
March 23, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28332277/sequencing-of-sporadic-attention-deficit-hyperactivity-disorder-adhd-identifies-novel-and-potentially-pathogenic-de-novo-variants-and-excludes-overlap-with-genes-associated-with-autism-spectrum-disorder
#11
Daniel Seung Kim, Amber A Burt, Jane E Ranchalis, Beth Wilmot, Joshua D Smith, Karynne E Patterson, Bradley P Coe, Yatong K Li, Michael J Bamshad, Molly Nikolas, Evan E Eichler, James M Swanson, Joel T Nigg, Deborah A Nickerson, Gail P Jarvik
Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for <5% of ADHD variance. Using data from affected participants without a family history of ADHD, we sought to identify de novo variants that could account for sporadic ADHD. Considering a total of 128 families, two analyses were conducted in parallel: first, in 11 unaffected parent/affected proband trios (or quads with the addition of an unaffected sibling) we completed exome sequencing. Six de novo missense variants at highly conserved bases were identified and validated from four of the 11 families: the brain-expressed genes TBC1D9, DAGLA, QARS, CSMD2, TRPM2, and WDR83...
March 22, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28332261/a-systematic-review-of-the-effectiveness-of-psychological-approaches-in-the-treatment-of-sex-offenders-with-intellectual-disabilities
#12
Emma Jones, Eddie Chaplin
BACKGROUND: Despite considerable advance and growth in the evidence base for psychological interventions as treatment for sex offenders with intellectual disabilities (ID), there remains limited evidence to support their effectiveness. This systematic review seeks to evaluate the effectiveness of psychological interventions on reducing reoffending rates for sex offenders with ID. METHODS: A search of ten electronic databases, grey literature and reference lists was conducted using PRISMA methodology...
March 23, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28332246/weight-management-in-adults-with-intellectual-and-developmental-disabilities-a-randomized-controlled-trial-of-two-dietary-approaches
#13
Lauren T Ptomey, Richard R Saunders, Muriel Saunders, Richard A Washburn, Matthew S Mayo, Debra K Sullivan, Cheryl A Gibson, Jeannine R Goetz, Jeff J Honas, Erik A Willis, Jessica C Danon, Ron Krebill, Joseph E Donnelly
BACKGROUND: The prevalence of obesity among individuals with intellectual and developmental disabilities (IDD) is equal to or greater than the general population. METHODS: Overweight/obese adults (BMI ≥25 kg/m(2) ) with mild-to-moderate intellectual and developmental disabilities were randomized to an enhanced stop light diet (eSLD = SLD + portion-controlled meals, n = 78) or a conventional diet (CD, n = 72) for an 18 months trial (6 months weight loss, 12 months maintenance)...
March 23, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28332052/the-varieties-of-character-and-some-implications-for-character-education
#14
Jason Baehr
The moral and civic dimensions of personal character have been widely recognized and explored. Recent work by philosophers, psychologists, and education theorists has drawn attention to two additional dimensions of character: intellectual character and "performance" character. This article sketches a "four-dimensional" conceptual model of personal character and some of the character strengths or "virtues" proper to each dimension. In addition to exploring how the dimensions of character are related to each other, the article also examines the implications of this account for character education undertaken in a youth or adolescent context...
March 22, 2017: Journal of Youth and Adolescence
https://www.readbyqxmd.com/read/28329869/50-years-of-cognitive-aging-theory
#15
Nicole D Anderson, Fergus I M Craik
Objectives: The objectives of this Introduction to the Journal of Gerontology: Psychological Sciences special issue on "50 Years of Cognitive Aging Theory" are to provide a brief overview of cognitive aging research prior to 1965 and to highlight significant developments in cognitive aging theory over the last 50 years. Method: Historical and recent theories of cognitive aging were reviewed, with a particular focus on those not directly covered by the articles included in this special issue...
December 9, 2016: Journals of Gerontology. Series B, Psychological Sciences and Social Sciences
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
#16
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/28328806/craniosynostosis-scheuermann-s-disease-and-intellectual-disability-resembling-shprintzen-goldberg-syndrome-a-report-on-a-family-over-4-generations-case-report
#17
Ali Al Kaissi, Zahra Marrakchi, Nabil M Nassib, Jochen Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
RATIONALE: Craniosynostosis is a disorder characterized by premature fusion of cranial sutures with subsequent development of abnormal craniofacial contour associated with variable skeletal and extra-skeletal abnormalities. In this family syndromic type of craniosynostosis was recognized and the etiology behind diverse forms of deformities have been diagnosed. PATIENT CONCERNS: The negative impact of the disorder on the child and his family is enormous. Particularly when the diagnosis is late and little can be done...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28328131/recessive-mutations-in-slc35a3-cause-early-onset-epileptic-encephalopathy-with-skeletal-defects
#18
Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini, Arvid Suls, Davide Mei, Rudi Balling, Peter D Jonghe, Ingo Helbig, Domenico Garozzo, Renzo Guerrini
We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328126/quantitative-phenotypic-and-network-analysis-of-1q44-microdeletion-for-microcephaly
#19
Nicholas Raun, Janette Mailo, Egidio Spinelli, Xu He, Sarah McAvena, Logan Brand, Julia O'Sullivan, John Andersen, Lawrence Richer, Richard Tang-Wai, Francois V Bolduc
As genome wide techniques become more common, an increasing proportion of patients with intellectual disability (ID) are found to have genetic defects allowing genotype-phenotype correlations. Previously, AKT3 deletion was suggested to be responsible for microcephaly in patients with 1q43-q44 deletion syndrome, but this does not correspond to all cases. We report a case of a de novo 1q44 deletion in an 8-year-old boy with microcephaly in whom AKT3 is not deleted. We used a systematic review of the literature, our patient, and network analysis to gain a better understanding of the genetic basis of microcephaly in 1q deletion patients...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328124/exome-sequencing-identifies-novel-ntrk1-mutations-in-patients-with-hsan-iv-phenotype
#20
Ruqaiah Altassan, Haya Al Saud, Tariq Ahmad Masoodi, Haya Al Dosssari, Ola Khalifa, Hamad Al-Zaidan, Nadia Sakati, Zuhair Rhabeeni, Zuhair Al-Hassnan, Yousef Binamer, Nadia Alhashemi, William Wade, Zayed Al-Zayed, Moeen Al-Sayed, Mohamed A Al-Muhaizea, Brian Meyer, Mohammad Al-Owain, Salma M Wakil
Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and intellectual disability. HSAN-IV is caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene, NTRK1, encoding the high-affinity receptor of nerve growth factor (NGF) which maps to chromosome 1q21-q22. Patients with HSAN-IV lack all NGF-dependent neurons, the primary afferents and sympathetic postganglionic neurons leading to lack of pain sensation and the presence of anhidrosis, respectively...
April 2017: American Journal of Medical Genetics. Part A
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