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https://www.readbyqxmd.com/read/28211971/atypical-angelman-syndrome-due-to-a-mosaic-imprinting-defect-case-reports-and-review-of-the-literature
#1
Anna Le Fevre, Jasmin Beygo, Cheryl Silveira, Benjamin Kamien, Jill Clayton-Smith, Alison Colley, Karin Buiting, Tracy Dudding-Byth
Angelman syndrome (AS) is characterized by severe intellectual disability, limited, or absent speech and a generally happy demeanor. The four known etiological mechanisms; deletions, uniparental disomy, imprinting defects, and UBE3A mutation all affect expression of the UBE3A gene at 15q11-q13. An atypical phenotype is seen in individuals who are mosaic for a chromosome 15q11-q13 imprinting defect on the maternal allele. These patients present with a milder phenotype, often with hyperphagia and obesity or non-specific intellectual disability...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28207819/the-ins-and-outs-of-eukaryotic-viruses-knowledge-base-and-ontology-of-a-viral-infection
#2
Chantal Hulo, Patrick Masson, Edouard de Castro, Andrea H Auchincloss, Rebecca Foulger, Sylvain Poux, Jane Lomax, Lydie Bougueleret, Ioannis Xenarios, Philippe Le Mercier
Viruses are genetically diverse, infect a wide range of tissues and host cells and follow unique processes for replicating themselves. All these processes were investigated and indexed in ViralZone knowledge base. To facilitate standardizing data, a simple ontology of viral life-cycle terms was developed to provide a common vocabulary for annotating data sets. New terminology was developed to address unique viral replication cycle processes, and existing terminology was modified and adapted. The virus life-cycle is classically described by schematic pictures...
2017: PloS One
https://www.readbyqxmd.com/read/28207579/expansion-of-prosodic-abilities-at-the-transition-from-babble-to-words-a-comparison-between-children-with-cochlear-implants-and-normally-hearing-children
#3
Michèle Pettinato, Ilke De Clerck, Jo Verhoeven, Steven Gillis
OBJECTIVES: This longitudinal study examined the effect of emerging vocabulary production on the ability to produce the phonetic cues to prosodic prominence in babbled and lexical disyllables of infants with cochlear implants (CI) and normally hearing (NH) infants. Current research on typical language acquisition emphasizes the importance of vocabulary development for phonological and phonetic acquisition. Children with CI experience significant difficulties with the perception and production of prosody, and the role of possible top-down effects is, therefore, particularly relevant for this population...
February 15, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28192511/correction-patterns-of-multiple-risk-exposures-for-low-receptive-vocabulary-growth-4-8-years-in-the-longitudinal-study-of-australian-children
#4
(no author information available yet)
[This corrects the article DOI: 10.1371/journal.pone.0168804.].
2017: PloS One
https://www.readbyqxmd.com/read/28185051/stress-judgment-and-production-in-english-derivation-and-word-reading-in-adult-mandarin-speaking-english-learners
#5
Wei-Lun Chung, Linda Jarmulowicz
For monolingual English-speaking children, judgment and production of stress in derived words, including words with phonologically neutral (e.g., -ness) and non-neutral suffixes (e.g., -ity), is important to both academic vocabulary growth and to word reading. For Mandarin-speaking adult English learners (AELs) the challenge of learning the English stress system might be complicated by cross-linguistic differences in prosodic function and features. As Mandarin-speakers become more proficient in English, patterns similar to those seen in monolingual children could emerge in which awareness and use of stress and suffix cues benefit word reading...
February 9, 2017: Journal of Psycholinguistic Research
https://www.readbyqxmd.com/read/28181248/i-spatial-skills-their-development-and-their-links-to-mathematics
#6
Brian N Verdine, Roberta Michnick Golinkoff, Kathy Hirsh-Pasek, Nora S Newcombe
Understanding the development of spatial skills is important for promoting school readiness and improving overall success in STEM (science, technology, engineering, and mathematics) fields (e.g., Wai, Lubinski, Benbow, & Steiger, 2010). Children use their spatial skills to understand the world, including visualizing how objects fit together, and can practice them via spatial assembly activities (e.g., puzzles or blocks). These skills are incorporated into measures of overall intelligence and have been linked to success in subjects like mathematics (Mix & Cheng, 2012) and science (Pallrand & Seeber, 1984; Pribyl & Bodner, 1987)...
March 2017: Monographs of the Society for Research in Child Development
https://www.readbyqxmd.com/read/28179482/language-outcomes-at-7-years-early-predictors-and-co-occurring-difficulties
#7
Cristina McKean, Sheena Reilly, Edith L Bavin, Lesley Bretherton, Eileen Cini, Laura Conway, Fallon Cook, Patricia Eadie, Margot Prior, Melissa Wake, Fiona Mensah
OBJECTIVE: To examine at 7 years the language abilities of children, the salience of early life factors and language scores as predictors of language outcome, and co-occurring difficulties METHODS: A longitudinal cohort study of 1910 infants recruited at age 8 to 10 months. Exposures included early life factors (sex, prematurity, birth weight/order, twin birth, socioeconomic status, non-English speaking background,family history of speech/language difficulties); maternal factors (mental health, vocabulary, education, and age); and child language ability at 2 and 4 years...
February 8, 2017: Pediatrics
https://www.readbyqxmd.com/read/28169419/age-of-bilingual-exposure-is-related-to-the-contribution-of-phonological-and-semantic-knowledge-to-successful-reading-development
#8
Kaja K Jasińska, Laura-Ann Petitto
Bilingual children's reading as a function of age of first bilingual language exposure (AoE) was examined. Bilingual (varied AoE) and monolingual children (N = 421) were compared in their English language and reading abilities (6-10 years) using phonological awareness, semantic knowledge, and reading tasks. Structural equation modeling was applied to determine how bilingual AoE predicts reading outcomes. Early exposed bilinguals outperformed monolinguals on phonological awareness and word reading. Phonology and semantic (vocabulary) knowledge differentially predicted reading depending on the bilingual experience and AoE...
February 7, 2017: Child Development
https://www.readbyqxmd.com/read/28168870/annotation-of-functional-impact-of-voltage-gated-sodium-channel-mutations
#9
Valérie Hinard, Aurore Britan, Mathieu Schaeffer, Monique Zahn-Zabal, Urs Thomet, Jean-Sébastien Rougier, Amos Bairoch, Hugues Abriel, Pascale Gaudet
Voltage-gated sodium channels are pore-forming transmembrane proteins that selectively allow sodium ions to flow across the plasma membrane according to the electro-chemical gradient thus mediating the rising phase of action potentials in excitable cells and playing key roles in physiological processes such as neurotransmission, skeletal muscle contraction, heart rhythm and pain sensation. Genetic variations in the nine human genes encoding these channels are known to cause a large range of diseases affecting the nervous and cardiac systems...
February 7, 2017: Human Mutation
https://www.readbyqxmd.com/read/28167382/child-language-and-parent-discipline-mediate-the-relation-between-family-income-and-false-belief-understanding
#10
Virginia Tompkins, Jessica A R Logan, Daniel F Blosser, Kaylin Duffy
Achieving false belief understanding is an important cognitive milestone that allows children to understand that thoughts and reality can differ. Researchers have found that low-income children score significantly lower than middle-income children on false belief understanding but have not examined why this difference exists. We hypothesized that children's language and parent discipline mediate the income-false belief relation. Participants were 174 3- to 6-year-olds. False belief understanding was significantly correlated with family income, children's vocabulary, parents' self-reported discussion of children's behavior, discussion of emotions, and power assertion...
February 3, 2017: Journal of Experimental Child Psychology
https://www.readbyqxmd.com/read/28163387/how-working-memory-relates-to-children-s-reading-comprehension-the-importance-of-domain-specificity-in-storage-and-processing
#11
Suzan Nouwens, Margriet A Groen, Ludo Verhoeven
Working memory is considered a well-established predictor of individual variation in reading comprehension in children and adults. However, how storage and processing capacities of working memory in both the phonological and semantic domain relate to reading comprehension is still unclear. In the current study, we investigated the contribution of phonological and semantic storage, and phonological and semantic processing to reading comprehension in 123 Dutch children in fifth grade. We conducted regression and mediation analyses to find out to what extent variation in reading comprehension could be explained by storage and processing capacities in both the phonological and the semantic domain, while controlling for children's decoding and vocabulary...
2017: Reading and Writing
https://www.readbyqxmd.com/read/28163196/extraction-of-left-ventricular-ejection-fraction-information-from-various-types-of-clinical-reports
#12
Youngjun Kim, Jennifer H Garvin, Mary K Goldstein, Tammy S Hwang, Andrew Redd, Dan Bolton, Paul A Heidenreich, Stéphane M Meystre
Efforts to improve the treatment of congestive heart failure, a common and serious medical condition, include the use of quality measures to assess guideline-concordant care. The goal of this study is to identify left ventricular ejection fraction (LVEF) information from various types of clinical notes, and to then use this information for heart failure quality measurement. We analyzed the annotation differences between a new corpus of clinical notes from the Echocardiography, Radiology, and Text Integrated Utility package and other corpora annotated for natural language processing (NLP) research in the Department of Veterans Affairs...
February 2, 2017: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/28161297/signaling-of-noncomprehension-in-communication-breakdowns-in-fragile-x-syndrome-down-syndrome-and-autism-spectrum-disorder
#13
Gary E Martin, Jamie Barstein, Jane Hornickel, Sara Matherly, Genna Durante, Molly Losh
: The ability to indicate a failure to understand a message is a critical pragmatic (social) language skill for managing communication breakdowns and supporting successful communicative exchanges. The current study examined the ability to signal noncomprehension across different types of confusing message conditions in children and adolescents with fragile X syndrome (FXS), Down syndrome (DS), autism spectrum disorder (ASD), and typical development (TD). Controlling for nonverbal mental age and receptive vocabulary skills, youth with comorbid FXS and ASD and those with DS were less likely than TD controls to signal noncomprehension of confusing messages...
January 26, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28155711/interspecies-gene-function-prediction-using-semantic-similarity
#14
Guoxian Yu, Wei Luo, Guangyuan Fu, Jun Wang
BACKGROUND: Gene Ontology (GO) is a collaborative project that maintains and develops controlled vocabulary (or terms) to describe the molecular function, biological roles and cellular location of gene products in a hierarchical ontology. GO also provides GO annotations that associate genes with GO terms. GO consortium independently and collaboratively annotate terms to gene products, mainly from model organisms (or species) they are interested in. Due to experiment ethics, research interests of biologists and resources limitations, homologous genes from different species currently are annotated with different terms...
December 23, 2016: BMC Systems Biology
https://www.readbyqxmd.com/read/28153818/ontology-driven-search-and-triage-design-of-a-web-based-visual-interface-for-medline
#15
Jonathan Demelo, Paul Parsons, Kamran Sedig
BACKGROUND: Diverse users need to search health and medical literature to satisfy open-ended goals such as making evidence-based decisions and updating their knowledge. However, doing so is challenging due to at least two major difficulties: (1) articulating information needs using accurate vocabulary and (2) dealing with large document sets returned from searches. Common search interfaces such as PubMed do not provide adequate support for exploratory search tasks. OBJECTIVE: Our objective was to improve support for exploratory search tasks by combining two strategies in the design of an interactive visual interface by (1) using a formal ontology to help users build domain-specific knowledge and vocabulary and (2) providing multi-stage triaging support to help mitigate the information overload problem...
February 2, 2017: JMIR Medical Informatics
https://www.readbyqxmd.com/read/28153362/uncertainty-in-measurement-and-total-error-tools-for-coping-with-diagnostic-uncertainty
#16
REVIEW
Elvar Theodorsson
Laboratory medicine decreases diagnostic uncertainty, but is influenced by factors causing uncertainties. Error and uncertainty methods are commonly seen as incompatible in laboratory medicine. New versions of the Guide to the Expression of Uncertainty in Measurement and International Vocabulary of Metrology will incorporate both uncertainty and error methods, which will assist collaboration between metrology and laboratories. Law of propagation of uncertainty and bayesian statistics are theoretically preferable to frequentist statistical methods in diagnostic medicine...
March 2017: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/28152611/effects-of-the-abc-intervention-on-foster-children-s-receptive-vocabulary
#17
Kristin Bernard, Amy Hyoeun Lee, Mary Dozier
Children with histories of maltreatment and disruptions in care are at elevated risk for impairments in early language development, which contribute to difficulties in other developmental domains across childhood. Given research demonstrating associations between parent responsiveness and children's early language development, we examined whether a parenting intervention administered in infancy improved preschool receptive language skills in children involved with the child welfare system. Attachment and Biobehavioral Catch-up (ABC) is a 10-session intervention that aims to enhance parent-child interactions...
January 1, 2017: Child Maltreatment
https://www.readbyqxmd.com/read/28152390/fluid-reasoning-predicts-future-mathematical-performance-among-children-and-adolescents
#18
Chloe T Green, Silvia A Bunge, Victoria Briones Chiongbian, Maia Barrow, Emilio Ferrer
The aim of this longitudinal study was to determine whether fluid reasoning (FR) plays a significant role in the acquisition of mathematics skills above and beyond the effects of other cognitive and numerical abilities. Using a longitudinal cohort sequential design, we examined how FR measured at three assessment occasions, spaced approximately 1.5years apart, predicted math outcomes for a group of 69 participants between ages 6 and 21years across all three assessment occasions. We used structural equation modeling (SEM) to examine the direct and indirect relations between children's previous cognitive abilities and their future math achievement...
May 2017: Journal of Experimental Child Psychology
https://www.readbyqxmd.com/read/28150059/conceptualizing-a-public-health-prevention-intervention-for-bridging-the-30-million-word-gap
#19
REVIEW
Charles R Greenwood, Judith J Carta, Dale Walker, Jomella Watson-Thompson, Jill Gilkerson, Anne L Larson, Alana Schnitz
Early childhood experience is a social determinant of children's health and well-being. The well-being of young children is founded on their relationships and interactions with parents and family members in the home, caregivers, and teachers in early education, and friends and families in the greater community. Unfortunately, the early language experience of infants and toddlers from low-income families is typically vastly different than children from middle- and higher-income families. Hart and Risley (Meaningful differences in the everyday experience of young American children...
February 1, 2017: Clinical Child and Family Psychology Review
https://www.readbyqxmd.com/read/28149204/current-concepts-osteochondritis-dissecans-of-the-capitellum-and-the-role-of-osteochondral-autograft-transplantation
#20
REVIEW
Jacob M Kirsch, Jared Thomas, Asheesh Bedi, Jeffrey N Lawton
Background: Osteochondritis dissecans (OCD) of the capitellum is a painful condition, which often affects young throwing athletes. Our current understanding regarding the etiology, risks factors, diagnosis, and efficacy of the available treatment options has expanded over recent years, however remains suboptimal. Recent data on patient-reported outcomes following osteochondral autograft transplantation (OAT) for the treatment of large osteochondral lesions of the capitellum have been promising but limited. This review seeks to critically analyze and summarize the available literature on the etiology, diagnosis, and reported outcomes associated with OCD of the capitellum and the use of OAT for its treatment...
December 2016: Hand: Official Journal of the American Association for Hand Surgery
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