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https://www.readbyqxmd.com/read/28818867/exploring-potential-germline-associated-roles-of-the-trim-nhl-protein-nhl-2%C3%A2-through-rnai-screening
#1
Gregory M Davis, Wai Y Low, Joshua W T Anderson, Peter R Boag
TRIM-NHL proteins are highly conserved regulators of developmental pathways in vertebrates and invertebrates. The TRIM-NHL family member, NHL-2 in Caenorhabditis elegans functions as a miRNA cofactor to regulate developmental timing. Similar regulatory roles have been reported in other model systems, with the mammalian orthologue in mice, TRIM32, contributing to muscle and neuronal cell proliferation via miRNA activity. Given the interest associated with TRIM-NHL family proteins, we aimed to further investigate the role of NHL-2 in C...
August 17, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28818717/the-effect-of-post-traumatic-stress-disorder-on-the-risk-of-developing-prescription-opioid-use-disorder-results-from-the-national-epidemiologic-survey-on-alcohol-and-related-conditions-iii
#2
Ahmed N Hassan, Bernard Le Foll, Sameer Imtiaz, Jürgen Rehm
OBJECTIVE: To evaluate the effect of baseline post-traumatic stress disorder (PTSD) and each symptoms cluster on the risk of developing opioid use disorder (OUD) in those exposed to opioid painkillers and to assess the effect of comorbid PTSD and OUD on functioning, OUD severity, and treatment seeking compared with individuals with OUD only. METHODS: We obtained data from 4025 individuals exposed to opioid painkillers from the National Epidemiologic Survey on Alcohol and Related Conditions III...
August 8, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28816916/developmental-screening-in-pediatric-sickle-cell-disease-disease-related-risk-and-screening-outcomes-in-4-year-olds
#3
Jeffrey Schatz, Alyssa Schlenz, Laura Reinman, Kelsey Smith, Carla W Roberts
OBJECTIVE: Studies of early child development in sickle cell disease (SCD) have found modest associations between disease-related risks and developmental status in infants and toddlers, but such associations are evident by early elementary school. We screened 4-year-old children with SCD using 2 screening strategies to assess if biomedical risk factors for neurologic disease are related to developmental screening outcomes at this intermediate age. METHODS: Seventy-seven 4-year-old children with SCD (M = 4...
August 4, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28816915/physician-awareness-of-developmental-screening-and-referral-in-the-state-of-kuwait
#4
Hollie Hix-Small, Khaled Alkherainej
OBJECTIVE: In the State of Kuwait, family physicians and pediatricians are responsible for identifying and referring children at risk of disability. The aims of this study were to better understand physician (1) use of developmental screening instruments, (2) referral practices for children at risk of developmental disability, (3) interpretation of screening results, and (4) anticipatory guidance topics prioritized over child screening. METHODS: A nonprobability volunteer, self-selection sample of family physicians, general practitioners, and pediatricians (n = 398) completed a 60-item paper questionnaire...
August 9, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28815571/functional-electrical-stimulation-of-the-ankle-dorsiflexors-during-walking-in-spastic-cerebral-palsy-a-systematic-review
#5
REVIEW
Irene Moll, Johannes S H Vles, Dan L H M Soudant, Adhiambo M A Witlox, Heleen M Staal, Lucianne A W M Speth, Yvonne J M Janssen-Potten, Marcel Coenen, Suzanne M Koudijs, R Jeroen Vermeulen
AIM: To assess the effect of functional electrical stimulation (FES) of ankle dorsiflexors in children and adolescents with spastic cerebral palsy (CP) during walking. METHOD: A systematic review was performed using the American Academy of Cerebral Palsy and Developmental Medicine methodology and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Six databases were searched for studies applying interventions to patients aged younger than 20 years...
August 17, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28809975/discovery-of-synthetic-small-molecules-that-enhance-the-number-of-stomata-c-h-functionalization-chemistry-for-plant-biology
#6
Asraa Ziadi, Naoyuki Uchida, Hiroe Kato, Rina Hisamatsu, Ayato Sato, Shinya Hagihara, Kenichiro Itami, Keiko U Torii
The increasing climate changes and global warming are leading to colossal agricultural problems such as abatement of food production and quality. As stomatal development is considered to play a key role in crop plant productivity and water-use efficiency, studying stomatal development is useful for understanding the productivity of plant systems for both natural and agricultural systems. Herein, we report the first-in-class synthetic small molecules enhancing the number of stomata in Arabidopsis thaliana that have been discovered by screening of the chemical library and further optimized by the Pd-catalyzed C-H arylation reaction...
August 15, 2017: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/28809826/high-throughput-screening-for-protein-based-inheritance-in-s-cerevisiae
#7
James S Byers, Daniel F Jarosz
The encoding of biological information that is accessible to future generations is generally achieved via changes to the DNA sequence. Long-lived inheritance encoded in protein conformation (rather than sequence) has long been viewed as paradigm-shifting but rare. The best characterized examples of such epigenetic elements are prions, which possess a self-assembling behavior that can drive the heritable manifestation of new phenotypes. Many archetypal prions display a striking N/Q-rich sequence bias and assemble into an amyloid fold...
August 8, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28809012/comparative-genomics-as-a-foundation-for-evo-devo-studies-in-birds
#8
Phil Grayson, Simon Y W Sin, Timothy B Sackton, Scott V Edwards
Developmental genomics is a rapidly growing field, and high-quality genomes are a useful foundation for comparative developmental studies. A high-quality genome forms an essential reference onto which the data from numerous assays and experiments, including ChIP-seq, ATAC-seq, and RNA-seq, can be mapped. A genome also streamlines and simplifies the development of primers used to amplify putative regulatory regions for enhancer screens, cDNA probes for in situ hybridization, microRNAs (miRNAs) or short hairpin RNAs (shRNA) for RNA interference (RNAi) knockdowns, mRNAs for misexpression studies, and even guide RNAs (gRNAs) for CRISPR knockouts...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28808337/microrna-214-modulates-neural-progenitor-cell-differentiation-by-targeting-quaking-during-cerebral-cortex-development
#9
Pengcheng Shu, Hongye Fu, Xiangyu Zhao, Chao Wu, Xiangbin Ruan, Yi Zeng, Wei Liu, Ming Wang, Lin Hou, Pan Chen, Bin Yin, Jiangang Yuan, Boqin Qiang, Xiaozhong Peng
The accurate generation of an appropriate number of different neuronal and glial subtypes is fundamental to normal brain functions and requires tightly orchestrated spatial and temporal developmental programmes to maintain the balance between the proliferation and the differentiation of neural progenitor cells. However, the molecular mechanism governing this process has not been fully elucidated. Here, we found that miR-214-3p was highly expressed in neural progenitor cells and dynamically regulated during neocortical development...
August 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28806234/delirium-in-the-critically-ill-child
#10
Sharon Norman, Asma A Taha, Helen N Turner
PURPOSE/OBJECTIVE: The purposes of this article are to describe the scientific literature on assessment, prevention, and management of delirium in critically ill children and to articulate the implications for clinical nurse specialists, in translating the evidence into practice. DESCRIPTION: A literature search was conducted in 4 databases-OvidMEDLINE, Cumulative Index to Nursing and Allied Health Literature, PsychINFO, and Web of Science-using the terms "delirium," "child," and "critically ill" for the period of 2006 to 2016...
September 2017: Clinical Nurse Specialist CNS
https://www.readbyqxmd.com/read/28804758/brain-calcifications-and-pcdh12-variants
#11
Gaël Nicolas, Monica Sanchez-Contreras, Eliana Marisa Ramos, Roberta R Lemos, Joana Ferreira, Denis Moura, Maria J Sobrido, Anne-Claire Richard, Alma Rosa Lopez, Andrea Legati, Jean-François Deleuze, Anne Boland, Olivier Quenez, Pierre Krystkowiak, Pascal Favrole, Daniel H Geschwind, Adi Aran, Reeval Segel, Ephrat Levy-Lahad, Dennis W Dickson, Giovanni Coppola, Rosa Rademakers, João R M de Oliveira
OBJECTIVE: To assess the potential connection between PCDH12 and brain calcifications in a patient carrying a homozygous nonsense variant in PCDH12 and in adult patients with brain calcifications. METHODS: We performed a CT scan in 1 child with a homozygous PCDH12 nonsense variant. We screened DNA samples from 53 patients with primary familial brain calcification (PFBC) and 26 patients with brain calcification of unknown cause (BCUC). RESULTS: We identified brain calcifications in subcortical and perithalamic regions in the patient with a homozygous PCDH12 nonsense variant...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28804749/morphine-versus-methadone-treatment-for-neonatal-withdrawal-and-impact-on-early-infant-development
#12
Sharon Burke, Anna Malia Beckwith
Objective. Compare developmental outcomes in infants treated with morphine versus methadone. Method. Retrospective chart review of newborns identified through use of ICD-9 code for neonatal abstinence syndrome (NAS). Thirty-six infants were evaluated-17 treated with methadone and 19 treated with morphine. Assessment was completed following treatment using the Bayley Scales of Infant and Toddler Development-Third Edition (Bayley-III). Scores in Cognitive, Language, and Motor domains were compared. Results. Comparison of scores between morphine- and methadone-treated groups revealed differences in mean Cognitive Composite (91...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28803559/rethinking-the-idea-of-late-autism-spectrum-disorder-onset
#13
Elizabeth C Bacon, Eric Courchesne, Cynthia Carter Barnes, Debra Cha, Sunny Pence, Laura Schreibman, Aubyn C Stahmer, Karen Pierce
A common theory of autism spectrum disorder (ASD) symptom onset includes toddlers who do not display symptoms until well after age 2, which are termed late-onset ASD cases. Objectives were to analyze differences in clinical phenotype between toddlers identified as ASD at initial evaluations (early diagnosed) versus those initially considered nonspectrum, then later identified as ASD (late diagnosed). Two hundred seventy-three toddlers recruited from the general population based on a failed developmental screening form or parent or physician concerns were followed longitudinally from 12 months and identified as early- and late-diagnosed cases of ASD, language delayed, or typically developing...
August 14, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28802365/exploring-reasons-for-late-identification-of-children-with-early-onset-hearing-loss
#14
Elizabeth M Fitzpatrick, Johnny Cesconetto Dos Santos, Viviane Grandpierre, JoAnne Whittingham
INTRODUCTION: Several studies have shown that early identification of childhood hearing loss leads to better language outcomes. However, delays in the confirmation of hearing loss persist even in the presence of well-established universal newborn hearing screening programs (UNHS). The objective of this population-based study was to document the proportion of children who experienced delayed confirmation of congenital and early onset hearing loss in a UNHS program in one region of Canada...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28801991/early-autism-symptoms-in-infants-with-tuberous-sclerosis-complex
#15
Nicole M McDonald, Kandice J Varcin, Rujuta Bhatt, Joyce Y Wu, Mustafa Sahin, Charles A Nelson, Shafali S Jeste
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50-60% of infants with TSC meeting criteria for ASD by 3 years of age. In a previous study of the current longitudinal cohort, we found that infants with TSC who develop ASD (TSC/ASD) evidence decreased cognitive abilities that diverge from infants with TSC and no ASD (TSC/no ASD). We extended this work by asking whether TSC/ASD infants (n = 13) differed from TSC/no ASD infants (n = 10) and infants with low developmental risk and no ASD (LR; n = 21) in their social communication functioning during the first year of life...
August 11, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28801591/new-variant-and-expression-studies-provide-further-insight-into-the-genotype-phenotype-correlation-in-yap1-related-developmental-eye-disorders
#16
R Holt, F Ceroni, D A Bax, S Broadgate, D Gold Diaz, C Santos, D Gerrelli, N K Ragge
YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to co-segregate with autosomal dominantly inherited coloboma. Therefore, we screened YAP1 for variants in a cohort of 258 undiagnosed UK patients with developmental eye disorders, including anophthalmia, microphthalmia and coloboma. We identified a novel 1 bp deletion in YAP1 in a boy with bilateral microphthalmia and bilateral chorioretinal coloboma...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28801146/bh4-deficiency-identified-in-a-neonatal-screening-program-for-hyperphenylalaninemia
#17
Cezar Antonio Abreu de Souza, Michelle Rosa Andrade Alves, Rosangelis Del Lama Soares, Viviane de Cássia Kanufre, Valéria de Melo Rodrigues, Rocksane de Carvalho Norton, Ana Lúcia Pimenta Starling, Marcos José Burle de Aguiar
OBJECTIVES: To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais (NSPMG). METHODS: Descriptive study of patients with BH4 deficiency identified by the NSPMG. RESULTS: The prevalence found was 2.1 for 1,000,000 live births, with a frequency of 1.71% among hyperphenylalaninemias. There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, three with GTP cyclohydrolase I - autosomal recessive form (GTPCH I) deficiency, and three with dihydropteridine reductase (DHPR) deficiency (30% each)...
August 8, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28800632/radar-a-novel-fast-screening-method-for-reading-difficulties-with-special-focus-on-dyslexia
#18
Ioannis Smyrnakis, Vassilios Andreadakis, Vassilios Selimis, Michail Kalaitzakis, Theodora Bachourou, Georgios Kaloutsakis, George D Kymionis, Stelios Smirnakis, Ioannis M Aslanides
Dyslexia is a developmental learning disorder of single word reading accuracy and/or fluency, with compelling research directed towards understanding the contributions of the visual system. While dyslexia is not an oculomotor disease, readers with dyslexia have shown different eye movements than typically developing students during text reading. Readers with dyslexia exhibit longer and more frequent fixations, shorter saccade lengths, more backward refixations than typical readers. Furthermore, readers with dyslexia are known to have difficulty in reading long words, lower skipping rate of short words, and high gaze duration on many words...
2017: PloS One
https://www.readbyqxmd.com/read/28800614/optimization-of-recombinant-bacteria-expressing-dsrna-to-enhance-insecticidal-activity-against-a-lepidopteran-insect-spodoptera-exigua
#19
Mohammad Vatanparast, Yonggyun Kim
Double-stranded RNA (dsRNA) has been applied to control insect pests due to its induction of RNA interference (RNAi) of a specific target gene expression. However, developing dsRNA-based insecticidal agent has been a great challenge especially against lepidopteran insect pests due to variations in RNAi efficiency. The objective of this study was to screen genes of chymotrypsins (SeCHYs) essential for the survival of the beet armyworm, Spodoptera exigua, to construct insecticidal dsRNA. In addition, an optimal oral delivery method was developed using recombinant bacteria...
2017: PloS One
https://www.readbyqxmd.com/read/28798667/the-foxp2-driven-network-in-developmental-disorders-and-neurodegeneration
#20
Franz Oswald, Patricia Klöble, André Ruland, David Rosenkranz, Bastian Hinz, Falk Butter, Sanja Ramljak, Ulrich Zechner, Holger Herlyn
The transcription repressor FOXP2 is a crucial player in nervous system evolution and development of humans and songbirds. In order to provide an additional insight into its functional role we compared target gene expression levels between human neuroblastoma cells (SH-SY5Y) stably overexpressing FOXP2 cDNA of either humans or the common chimpanzee, Rhesus monkey, and marmoset, respectively. RNA-seq led to identification of 27 genes with differential regulation under the control of human FOXP2, which were previously reported to have FOXP2-driven and/or songbird song-related expression regulation...
2017: Frontiers in Cellular Neuroscience
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