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https://www.readbyqxmd.com/read/28102598/novel-findings-of-left-ventricular-non-compaction-cardiomyopathy-microform-cleft-lip-and-poor-vision-in-patient-with-smc1a-associated-cornelia-de-lange-syndrome
#1
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Joanna Wrede, Patrick Javid, Darcy King, Vivian Manh, Anne V Hing, Erin Albers
Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102566/annual-research-review-understudied-populations-within-the-autism-spectrum-current-trends-and-future-directions-in-neuroimaging-research
#2
REVIEW
Allison Jack, Kevin A Pelphrey
BACKGROUND: Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental conditions that vary in both etiology and phenotypic expression. Expressions of ASD characterized by a more severe phenotype, including autism with intellectual disability (ASD + ID), autism with a history of developmental regression (ASD + R), and minimally verbal autism (ASD + MV) are understudied generally, and especially in the domain of neuroimaging. However, neuroimaging methods are a potentially powerful tool for understanding the etiology of these ASD subtypes...
January 19, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28102468/mutation-of-the-herc-1-ubiquitin-ligase-impairs-associative-learning-in-the-lateral-amygdala
#3
Eva Mª Pérez-Villegas, José V Negrete-Díaz, Mª Elena Porras-García, Rocío Ruiz, Angel M Carrión, Antonio Rodríguez-Moreno, José A Armengol
Tambaleante (tbl/tbl) is a mutant mouse that carries a spontaneous Gly483Glu substitution in the HERC1 (HECT domain and RCC1 domain) E3 ubiquitin ligase protein (HERC1). The tbl/tbl mutant suffers an ataxic syndrome given the almost complete loss of cerebellar Purkinje cells during adult life. More recent analyses have identified alterations at neuromuscular junctions in these mice, as well as in other neurons of the central nervous system, such as motor neurons in the spinal cord, or pyramidal neurons in the hippocampal CA3 region and the neocortex...
January 19, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28101829/autism-spectrum-disorders%C3%A2-diagnosis-and-management
#4
REVIEW
Sharmila Banerjee Mukherjee
Autism Spectrum Disorder (ASD) is a neuro-developmental disorder commonly seen in children. It is characterized by age inappropriate, impaired social communication and the presence of stereotypic behavior. This disorder is hypothesized to result from cerebral dysfunction arising from a complex interaction between genetic, epigenetic and environmental factors. ASD should be suspected in children failing ASD specific screening tests, in the presence of red flags in social, language and/or play domains, in children with developmental or language delay, abnormal behavior, poor school performance or in those who are at high risk...
January 19, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28101812/cognitive-and-emotional-demands-of-black-humour-processing-the-role-of-intelligence-aggressiveness-and-mood
#5
Ulrike Willinger, Andreas Hergovich, Michaela Schmoeger, Matthias Deckert, Susanne Stoettner, Iris Bunda, Andrea Witting, Melanie Seidler, Reinhilde Moser, Stefanie Kacena, David Jaeckle, Benjamin Loader, Christian Mueller, Eduard Auff
Humour processing is a complex information-processing task that is dependent on cognitive and emotional aspects which presumably influence frame-shifting and conceptual blending, mental operations that underlie humour processing. The aim of the current study was to find distinctive groups of subjects with respect to black humour processing, intellectual capacities, mood disturbance and aggressiveness. A total of 156 adults rated black humour cartoons and conducted measurements of verbal and nonverbal intelligence, mood disturbance and aggressiveness...
January 18, 2017: Cognitive Processing
https://www.readbyqxmd.com/read/28101455/pharmaceutical-cocrystals-regulatory-and-strategic-aspects-design-and-development
#6
REVIEW
Dipak Dilip Gadade, Sanjay Sudhakar Pekamwar
Cocrystal is a concept of the supramolecular chemistry which is gaining the extensive interest of researchers from pharmaceutical and chemical sciences and of drug regulatory agencies. The prominent reason of which is its ability to modify physicochemical properties of active pharmaceutical ingredients. During the development of the pharmaceutical product, formulators have to optimize the physicochemical properties of active pharmaceutical ingredients. Pharmaceutical cocrystals can be employed to improve vital physicochemical characteristics of a drug, including solubility, dissolution, bioavailability and stability of pharmaceutical compounds while maintaining its therapeutic activity...
December 2016: Advanced Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/28100473/delineating-the-phenotypic-spectrum-of-bainbridge-ropers-syndrome-12-new-patients-with-de-novo-heterozygous-loss-of-function-mutations-in-asxl3-and-review-of-published-literature
#7
M Balasubramanian, J Willoughby, A E Fry, A Weber, H V Firth, C Deshpande, J N Berg, K Chandler, K A Metcalfe, W Lam, D Pilz, S Tomkins
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the additional sex combs like 3 (ASXL3) gene. To date, there have been fewer than 10 reported patients. OBJECTIVES: Here, we delineate the BRPS phenotype further by describing a series of 12 previously unreported patients identified by the Deciphering Developmental Disorders study. METHODS: Trio-based exome sequencing was performed on all 12 patients included in this study, which found a de novo truncating mutation in ASXL3...
January 18, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28100080/the-commercialization-of-genome-editing-technologies
#8
Katelyn Brinegar, Ali K Yetisen, Sun Choi, Emily Vallillo, Guillermo U Ruiz-Esparza, Anand M Prabhakar, Ali Khademhosseini, Seok-Hyun Yun
The emergence of new gene-editing technologies is profoundly transforming human therapeutics, agriculture, and industrial biotechnology. Advances in clustered regularly interspaced short palindromic repeats (CRISPR) have created a fertile environment for mass-scale manufacturing of cost-effective products ranging from basic research to translational medicine. In our analyses, we evaluated the patent landscape of gene-editing technologies and found that in comparison to earlier gene-editing techniques, CRISPR has gained significant traction and this has established dominance...
January 18, 2017: Critical Reviews in Biotechnology
https://www.readbyqxmd.com/read/28099615/do-you-know-this-syndrome-dyspigmentation-along-the-blaschko-lines-caused-by-trisomy-7-mosaicism
#9
Miguel Pinto de Gouveia, Inês Coutinho, Vera Teixeira, Renata d'Oliveira, Margarida Venâncio, Ana Moreno
Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype...
November 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28097321/diagnostic-yield-and-novel-candidate-genes-by-exome-sequencing-in-152-consanguineous-families-with-neurodevelopmental-disorders
#10
Miriam S Reuter, Hasan Tawamie, Rebecca Buchert, Ola Hosny Gebril, Tawfiq Froukh, Christian Thiel, Steffen Uebe, Arif B Ekici, Mandy Krumbiegel, Christiane Zweier, Juliane Hoyer, Karolin Eberlein, Judith Bauer, Ute Scheller, Tim M Strom, Sabine Hoffjan, Ehab R Abdelraouf, Nagwa A Meguid, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Ebtessam Abdallah, Heinrich Sticht, Dagmar Wieczorek, André Reis, Rami Abou Jamra
Importance: Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives: To promote the identification of disease genes through confirmation of previously described genes and presentation of novel candidates and provide an overview of the diagnostic yield of exome sequencing in consanguineous families. Design, Setting, and Participants: Autozygosity mapping in families and exome sequencing of index patients were performed in 152 consanguineous families (the parents descended from a same ancestor) with at least 1 offspring with intellectual disability (ID)...
January 11, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28095059/what-s-the-harm-harms-in-research-with-adults-with-intellectual-disability
#11
Katherine E McDonald, Nicole E Conroy, Robert S Olick, The Project Ethics Expert Panel
Scientific advances can improve the lives of adults with intellectual disability, yet concerns that research participation may impose harm impede scientific progress. What counts as harmful can be subjective and perceptions of harm may vary among stakeholders. We studied perspectives on the harmfulness of research events among adults with intellectual disability, family members and friends, disability service providers, researchers, and Institutional Review Board members. We found considerable variance. For example, adults with intellectual disability see exclusion from research as more harmful, but most psychosocial harms as less significant than others...
January 2017: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28095058/efficacy-of-peer-support-arrangements-to-increase-peer-interaction-and-aac-use
#12
Elizabeth E Biggs, Erik W Carter, Jenny Gustafson
Supporting interaction in inclusive settings between students with complex communication needs (CCN) and their peers requires careful planning and support. We used a multiple-probe-across-participants design to investigate the efficacy of collaborative planning and peer support arrangements to increase peer interaction in inclusive classrooms. Participants were four middle school students with CCN who had an intellectual disability and used an iPad with Proloquo2Go as augmentative and alternative communication (AAC)...
January 2017: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28095054/adolescent-siblings-of-individuals-with-and-without-intellectual-and-developmental-disabilities-self-reported-empathy-and-feelings-about-their-brothers-and-sisters
#13
Carolyn M Shivers, Elisabeth M Dykens
Siblings of brothers or sisters with intellectual and developmental disabilities (IDD) are important but understudied family members. As many previous studies have relied on parent report of sibling outcomes, the use of sibling self-report is an important addition to the research. This study assessed the feelings of adolescent siblings toward their brothers or sisters with and without IDD, as well as broader aspects of sibling empathy. Data were collected via a national, online survey from 97 parent-sibling pairs...
January 2017: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28094463/network-over-connectivity-differentiates-autism-spectrum-disorder-from-other-developmental-disorders-in-toddlers-a-diffusion-mri-study
#14
E Conti, J Mitra, S Calderoni, K Pannek, K K Shen, A Pagnozzi, S Rose, S Mazzotti, D Scelfo, M Tosetti, F Muratori, G Cioni, A Guzzetta
Advanced connectivity studies in toddlers with Autism Spectrum Disorder (ASD) are increasing and consistently reporting a disruption of brain connectivity. However, most of these studies compare ASD and typically developing subjects, thus providing little information on the specificity of the abnormalities detected in comparison with other developmental disorders (other-DD). We recruited subjects aged below 36 months who received a clinical diagnosis of Neurodevelopmental Disorder (32 ASD and 16 other-DD including intellectual disability and language disorder) according to DSM-IV TR...
January 17, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28094084/incontinence-and-psychological-symptoms-in-individuals-with-mowat-wilson-syndrome
#15
Justine Niemczyk, Stewart Einfeld, David Mowat, Monika Equit, Catharina Wagner, Leopold Curfs, Alexander von Gontard
BACKGROUND: Mowat-Wilson Syndrome (MWS) is caused by deletion/mutation of the ZEB2 gene on chromosome 2q22. MWS is characterized by a distinctive facial appearance, severe intellectual disability and other anomalies, e.g. seizures and/or Hirschsprung disease (HSCR). Most individuals have a sociable demeanor, but one third show psychological problems. AIMS: The aim was to investigate incontinence and psychological problems in MWS. METHODS AND PROCEDURES: 26 children (4-12 years), 13 teens (13-17 years) and 8 adults (>18years) were recruited through a MWS support group...
January 13, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28093507/mosaic-expression-of-atrx-in-the-central-nervous-system-causes-memory-deficits
#16
Renee J Tamming, Jennifer R Siu, Yan Jiang, Marco A M Prado, Frank Beier, Nathalie G Bérubé
The rapid modulation of chromatin organization is thought to play a critical role in cognitive processes such as memory consolidation. This is supported in part by the dysregulation of many chromatin remodeling proteins in neurodevelopmental and psychiatric disorders. A key example is ATRX, an X-linked gene commonly mutated in individuals with syndromic and non-syndromic intellectual disability (ID). The consequences of Atrx inactivation on learning and memory have been difficult to evaluate due to the early lethality of hemizygous-null animals...
January 12, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28092720/-rethinking-intellectual-disability-a-professor-a-family-and-an-exceptional-child
#17
Ana Belén Martínez García
No abstract text is available yet for this article.
September 2016: Cuadernos de Bioética: Revista Oficial de la Asociación Española de Bioética y Ética Médica
https://www.readbyqxmd.com/read/28092643/physical-activity-and-sedentary-time-among-children-with-disabilities-at-school
#18
Cindy H P Sit, Thomas L McKenzie, Ester Cerin, Bik C Chow, Wendy Y Huang, Jie Yu
PURPOSES: Physical activity (PA) is important for the development of children with disabilities, but rarely does this population meet the recommended standards. Schools are salient locations for PA, but little is known about how specific school settings affect the PA of children with diverse disabilities. We assessed PA and sedentary time (ST) of children with disabilities in three school settings (physical education, recess, lunchtime). METHODS: Participants included 259 children from 13 Hong Kong special schools for five primary disabilities: visual impairments, hearing impairments, physical disabilities, intellectual disabilities, and social development problems...
February 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28091344/a-comprehensive-systematic-review-and-meta-analysis-of-pharmacological-and-dietary-supplement-interventions-in-paediatric-autism-moderators-of-treatment-response-and-recommendations-for-future-research
#19
A Masi, A Lampit, M M DeMayo, N Glozier, I B Hickie, A J Guastella
BACKGROUND: Autism spectrum disorders (ASDs) are pervasive and multifactorial neurodevelopmental conditions, characterized by impairments in social communication and interaction, and restricted, repetitive patterns of behaviour, interests or activities. Treatment options to ameliorate symptoms of ASDs are limited. Heterogeneity complicates the quest for personalized medicine in this population. Our aim was to investigate if there are baseline characteristics of patients that moderate response or trial design features that impede the identification of efficacious interventions for ASDs...
January 16, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28090782/emil-fischer-and-the-art-of-chemical-experimentation
#20
Catherine M Jackson
What did nineteenth-century chemists know? This essay uses Emil Fischer's classic study of the sugars in 1880s and 90s Germany to argue that chemists' knowledge was not primarily vested in the theories of valence, structure, and stereochemistry that have been the subject of so much historical and philosophical analysis of chemistry in this period. Nor can chemistry be reduced to a merely manipulative exercise requiring little or no intellectual input. Examining what chemists themselves termed the "art of chemical experimentation" reveals chemical practice as inseparable from its cognitive component, and it explains how chemists integrated theory with experiment through reason...
January 1, 2017: History of Science; An Annual Review of Literature, Research and Teaching
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