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https://www.readbyqxmd.com/read/28547797/vitamin-d-receptor-agonists-regulate-ocular-developmental-angiogenesis-and-modulate-expression-of-dre-mir-21-and-vegf
#1
Stephanie L Merrigan, Breandán N Kennedy
BACKGROUND AND PURPOSE: Pathological growth of ocular vasculature networks can underpin visual impairment in neovascular age-related macular degeneration, proliferative diabetic retinopathy and retinopathy of prematurity. Our aim was to uncover novel pharmacological regulators of ocular angiogenesis by phenotype-based screening in zebrafish. EXPERIMENTAL APPROACH: A bioactive chemical library of 465 drugs was screened to identify small molecule inhibitors of ocular hyaloid vasculature (HV) angiogenesis in zebrafish larvae...
May 26, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28546752/essence-q-used-as-a-screening-tool-for-neurodevelopmental-problems-in-public-health-checkups-for-young-children-in-south-japan
#2
Yuhei Hatakenaka, Hitoshi Ninomiya, Eva Billstedt, Elisabeth Fernell, Christopher Gillberg
BACKGROUND: Screening for developmental disorders is an important task for Child Health Care. The concept of ESSENCE (early symptomatic syndromes eliciting neurodevelopmental clinical examinations) was created to cover all types of early developmental disorders and the ESSENCE-Questionnaire (ESSENCE-Q containing 12 questions with possible total scores ranging from 0 to 22) was developed as a tool for early detection of these disorders. The aim of this study was to perform a validation study in a public health situation in Japan...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28540636/gm2-activator-deficiency-caused-by-a-homozygous-exon-2-deletion-in-gm2a
#3
Patricia L Hall, Regina Laine, John J Alexander, Arunkanth Ankala, Lisa A Teot, Hart G W Lidov, Irina Anselm
GM2 activator (GM2A) deficiency (OMIM 613109) is a rare lysosomal storage disorder, with onset typically in infancy or early childhood. Clinically, it is almost indistinguishable from Tay-Sachs disease (OMIM 272800) or Sandhoff disease (OMIM 268800); however, traditionally available biochemical screening tests will most likely reveal normal results. We report a 2-year-old male with initially normal development until the age of 9 months, when he presented with developmental delay and regression. Workup at that time was unrevealing; at 15 months, he had abnormal brain MRI findings and a cherry red spot on ophthalmological examination...
May 25, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28540558/an-improved-isoform-selective-assay-for-sphingosine-kinase-1-activity
#4
Melissa R Pitman, Lorena T Davies, Stuart M Pitson
Sphingosine kinases (SK) are the sole enzymes responsible for the production of sphingosine 1-phosphate (S1P). S1P is a signaling molecule with a plethora of targets, acting as both a second messenger intracellularly and extracellularly via a family of cell surface G-protein-coupled S1P receptors. The two sphingosine kinases, SK1 and SK2, arise from different genes and have some distinct and overlapping cellular functions that are regulated in part by differential cellular localization, developmental expression, and catalytic properties...
May 25, 2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28540525/identification-of-22q11-2-deletion-syndrome-via-newborn-screening-for-severe-combined-immunodeficiency
#5
Jessica C Barry, Terrence Blaine Crowley, Soma Jyonouchi, Jennifer Heimall, Elaine H Zackai, Kathleen E Sullivan, Donna M McDonald-McGinn
PURPOSE: Chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Neonatal diagnosis traditionally relies on recognition of classic features and cytogenetic testing, but many patients come to attention only following identification of later onset conditions, such as hypernasal speech due to palatal insufficiency and developmental and behavioral differences including speech delay, autism, and learning disabilities that would benefit from early interventions...
May 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28537322/trajectories-of-nutritional-risk-the-manitoba-follow-up-study
#6
C O Lengyel, D Jiang, R B Tate
OBJECTIVES: To identify patterns of nutritional risk among older men over a four-year period and to project their survival rates over the next two and a half years. DESIGN: A prospective longitudinal study. SETTING: Canada. PARTICIPANTS: Three hundred and thirty-six male survivors of the Manitoba Follow-up Study (MFUS) cohort with an average age of 90 years in 2011. MEASUREMENTS: Four years of nutritional risk SCREEN II scores (five waves) from the male survivors of the MFUS cohort...
2017: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/28533195/de-novo-8p23-1-deletion-in-a-patient-with-absence-epilepsy
#7
Nihan Hande Akcakaya, Özlem Yalcin Capan, Herbert Schulz, Thomas Sander, Server Hande Caglayan, Zuhal Yapıcı
The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, and sometimes epilepsy. Genomic copy number variations (CNVs) constitute an important genetic risk factor for common genetic generalised epilepsy syndromes (GGEs) and absence seizures. These variations, resulting either from copy loss (microdeletion) or copy gain (duplications), disrupt genes associated with neuronal development...
May 22, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28533035/trajectories-of-externalizing-and-internalizing-behaviors-in-preterm-children-admitted-to-a-neonatal-intensive-care-unit
#8
Emily D Gerstein, Ashley C Woodman, Cynthia Burnson, Erika R Cheng, Julie Poehlmann-Tynan
OBJECTIVE: To examine the trajectories of internalizing and externalizing behavior problems of preterm children between 16 months and 6 years of age and predictors of trajectories, including gestational age, child dysregulation, maternal depression, socioeconomic status, and parenting. STUDY DESIGN: This longitudinal study followed 148 children and their mothers from neonatal intensive care unit discharge until 6 years of age. Gestational ages ranged from 23 to 36 weeks...
May 19, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28532504/vineland-adaptive-behavior-scales-to-identify-neurodevelopmental-problems-in-children-with-congenital-hyperinsulinism-chi
#9
Maria Salomon-Estebanez, Zainab Mohamed, Maria Michaelidou, Hannah Collins, Lindsey Rigby, Mars Skae, Raja Padidela, Stewart Rust, Mark Dunne, Karen Cosgrove, Indraneel Banerjee, Jacqueline Nicholson
BACKGROUND: Congenital Hyperinsulinism (CHI) is a disease of severe hypoglycaemia caused by excess insulin secretion and associated with adverse neurodevelopment in a third of children. The Vineland Adaptive Behavior Scales Second Edition (VABS-II) is a parent report measure of adaptive functioning that could be used as a developmental screening tool in patients with CHI. We have investigated the performance of VABS-II as a screening tool to identify developmental delay in a relatively large cohort of children with CHI...
May 22, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28530380/diabetes-update-primary-care-of-patients-with-type-1-diabetes
#10
Beth Choby
The incidence and prevalence of type 1 diabetes (T1D) are increasing among white, black, Hispanic, and Asian individuals in the United States. Children often present with acute symptoms, including severe polyuria, polydipsia, weight loss, and ketonemia; adults may develop more gradual symptoms that initially appear similar to those of type 2 diabetes (T2D). Latent autoimmune diabetes of adults and maturity-onset diabetes of the young are conditions that may be confused with T1D, although they are actually more closely related to T2D...
May 2017: FP Essentials
https://www.readbyqxmd.com/read/28527947/embryonic-vascular-disruption-adverse-outcomes-linking-high-throughput-signaling-signatures-with-functional-consequences
#11
Robert G Ellis-Hutchings, Raja S Settivari, Alene T McCoy, Nicole Kleinstreuer, Jill Franzosa, Thomas B Knudsen, Edward W Carney
Embryonic vascular disruption is an important adverse outcome pathway (AOP) as chemical disruption of cardiovascular development induces broad prenatal defects. High throughput screening (HTS) assays aid AOP development although linking in vitro data to in vivo apical endpoints remains challenging. This study evaluated two anti-angiogenic agents, 5HPP-33 and TNP-470, across the ToxCastDB HTS assay platform and anchored the results to complex in vitro functional assays: the rat aortic explant assay (AEA), rat whole embryo culture (WEC), and the zebrafish embryotoxicity (ZET) assay...
May 17, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28526666/a-smart-toy-to-enhance-the-decision-making-process-at-children-s-psychomotor-delay-screenings-a-pilot-study
#12
María Angeles Gutiérrez García, María Luisa Martín Ruiz, Diego Rivera, Laura Vadillo, Miguel Angel Valero Duboy
BACKGROUND: EDUCERE ("Ubiquitous Detection Ecosystem to Care and Early Stimulation for Children with Developmental Disorders") is an ecosystem for ubiquitous detection, care, and early stimulation of children with developmental disorders. The objectives of this Spanish government-funded research and development project are to investigate, develop, and evaluate innovative solutions to detect changes in psychomotor development through the natural interaction of children with toys and everyday objects, and perform stimulation and early attention activities in real environments such as home and school...
May 19, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28524823/prevalence-of-developmental-dysplasia-of-the-hip-in-chinese-adults-a-cross-sectional-survey
#13
Feng-De Tian, De-Wei Zhao, Wei Wang, Lin Guo, Si-Miao Tian, Ao Feng, Fan Yang, Dong-Yi Li
BACKGROUND: The prevalence of developmental dysplasia of the hip (DDH) is unknown in China. We aimed to determine the prevalence of DDH in Chinese adults. METHODS: In this study, we performed a cross-sectional survey of a nationally representative sample of Chinese adults. All participants underwent questionnaire investigation, physical examination, and X-ray examination. Factors associated with DDH were analyzed with logistic regression. RESULTS: We invited 29,180 individuals aged 18 years and over to participate, randomly selected from 18 primary sampling units (street districts in urban areas and townships in rural areas)...
June 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28524075/examining-the-overlap-between-autism-spectrum-disorder-and-22q11-2-deletion-syndrome
#14
Opal Ousley, A Nichole Evans, Samuel Fernandez-Carriba, Erica L Smearman, Kimberly Rockers, Michael J Morrier, David W Evans, Karlene Coleman, Joseph Cubells
22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15-50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician's best-estimate diagnosis...
May 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28521943/developmental-regulation-and-evolution-of-scaling-novel-insights-through-the-study-of-onthophagus-beetles
#15
REVIEW
Sofia Casasa, Daniel B Schwab, Armin P Moczek
Scaling relationships play critical roles in defining biological shape, trait functionality, and species characteristics, yet the developmental basis of scaling and its evolution remain poorly resolved in most taxa. In the horned beetle genus Onthophagus, scaling relationships of most traits are largely comparable across many species, however, the morphology and scaling of horns, a recent evolutionary invention, has diversified dramatically, ranging from modestly to highly positively linear to more complex sigmoidal allometries...
February 2017: Current Opinion in Insect Science
https://www.readbyqxmd.com/read/28521404/silencing-tak1-alters-gene-expression-signatures-in-bladder-cancer-cells
#16
Jimin Chen, Nan Zhang, Jiaming Wen, Zhewei Zhang
The aim of the present study was to identify the differentially expressed genes (DEGs) that are induced by the silencing of transforming growth factor-β-activated kinase 1 (TAK1) in bladder cancer cells and to analyze the potential biological effects. Dataset GSE52452 from mutant fibroblast growth factor receptor 3 (FGFR3) bladder cancer cells transfected with control siRNA or TAK1-specific siRNA was downloaded from Gene Expression Omnibus. The DEGs between the two groups were identified using Limma package following data pre-processing by Affy in Bioconductor...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28515441/fluorescence-dynamics-of-the-biosynthesized-cdse-quantum-dots-in-candida-utilis
#17
Li-Jiao Tian, Nan-Qing Zhou, Xian-Wei Liu, Xing Zhang, Ting-Ting Zhu, Ling-Li Li, Wen-Wei Li, Han-Qing Yu
Organisms served as factories of bio-assembly of nanoparticles attracted a lot of attentions due to the safe, economic and environmental-benignity traits, especially the fabrication of the super fluorescence properties quantum dots (QDs). However, information about the developmental dynamics of QDs in living organisms is still lacking. In this work, we synthesized cadmium-selenium (CdSe) QDs in Candida utilis WSH02-08, and then tracked and quantitatively characterized the developmental dynamics (photoactivation, photostable and photobleaching processes) of bio-QDs by translating fluorescence microscopy movies into visual quantitative curve...
May 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28512024/repurposing-of-proton-pump-inhibitors-as-first-identified-small-molecule-inhibitors-of-endo-%C3%AE-n-acetylglucosaminidase-engase-for-the-treatment-of-ngly1-deficiency-a-rare-genetic-disease
#18
Yiling Bi, Matthew Might, Hariprasad Vankayalapati, Balagurunathan Kuberan
N-Glycanase deficiency, or NGLY1 deficiency, is an extremely rare human genetic disease. N-Glycanase, encoded by the gene NGLY1, is an important enzyme involved in protein deglycosylation of misfolded proteins. Deglycosylation of misfolded proteins precedes the endoplasmic reticulum (ER)-associated degradation (ERAD) process. NGLY1 patients produce little or no N-glycanase (Ngly1), and the symptoms include global developmental delay, frequent seizures, complex hyperkinetic movement disorder, difficulty in swallowing/aspiration, liver dysfunction, and a lack of tears...
May 5, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28510345/use-of-mandarin-parents-evaluation-of-developmental-status-in-the-detection-of-delays
#19
Teck-Hock Toh, Boon-Chuan Lim, Mohamad Adam Bin Bujang, Jamaiyah Haniff, See-Chang Wong, Muhamad Rais Abdullah
OBJECTIVE: We examined the parental perception and accuracy of Mandarin translated Parents' Evaluation of Developmental Status, a screening questionnaire for parents' concerns on their child's various developmental skills. METHODS: The questionnaire was translated into Mandarin. Upon enrollment, caregivers completed the Mandarin PEDS and answered four questions about its acceptability and usefulness, and its ease of understanding and completing. The Mandarin PEDS were independently evaluated by a pediatrician and a community nurse, and classified as 'high' risk (> 2 predictive concerns), 'medium' risk (1 predictive concern), 'low' risk (any non-predictive concerns) or 'no' risk (if no concern) for developmental delays...
May 16, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28510271/application-of-combination-high-throughput-phenotypic-screening-and-target-identification-methods-for-the-discovery-of-natural-product-based-combination-drugs
#20
REVIEW
Monica Isgut, Mukkavilli Rao, Chunhua Yang, Vangala Subrahmanyam, Padmashree C G Rida, Ritu Aneja
Modern drug discovery efforts have had mediocre success rates with increasing developmental costs, and this has encouraged pharmaceutical scientists to seek innovative approaches. Recently with the rise of the fields of systems biology and metabolomics, network pharmacology (NP) has begun to emerge as a new paradigm in drug discovery, with a focus on multiple targets and drug combinations for treating disease. Studies on the benefits of drug combinations lay the groundwork for a renewed focus on natural products in drug discovery...
May 16, 2017: Medicinal Research Reviews
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