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Neurodevelopmental diseases

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https://www.readbyqxmd.com/read/27909996/modelling-the-cost-effectiveness-of-human-milk-and-breastfeeding-in-preterm-infants-in-the-united-kingdom
#1
James Mahon, Lindsay Claxton, Hannah Wood
OBJECTIVES: To estimate the cost savings and health benefits in the UK NHS that could be achieved if human milk usage in the NICU was increased. METHODS: A systematic review established the disease areas with the strong sources of evidence of the short, medium and long-term benefits of human milk for preterm infants as opposed to the use of formula milk. The analysis assessed the economic impact of reducing rates of necrotising enterocolitis, sepsis, sudden infant death syndrome, leukaemia, otitis media, obesity and neurodevelopmental impairment...
December 2016: Health Economics Review
https://www.readbyqxmd.com/read/27907889/denovo-db-a-compendium-of-human-de-novo-variants
#2
Tychele N Turner, Qian Yi, Niklas Krumm, John Huddleston, Kendra Hoekzema, Holly A F Stessman, Anna-Lisa Doebley, Raphael A Bernier, Deborah A Nickerson, Evan E Eichler
Whole-exome and whole-genome sequencing have facilitated the large-scale discovery of de novo variants in human disease. To date, most de novo discovery through next-generation sequencing focused on congenital heart disease and neurodevelopmental disorders (NDDs). Currently, de novo variants are one of the most significant risk factors for NDDs with a substantial overlap of genes involved in more than one NDD. To facilitate better usage of published data, provide standardization of annotation, and improve accessibility, we created denovo-db (http://denovo-db...
October 5, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27900773/systematic-review-of-immunoglobulin-use-in-paediatric-neurological-and-neurodevelopmental-disorders
#3
REVIEW
Jonathan Gadian, Emma Kirk, Kate Holliday, Ming Lim, Michael Absoud
AIM: A systematic literature review of intravenous immunoglobulin (IVIG) treatment of paediatric neurological conditions was performed to summarize the evidence, provide recommendations, and suggest future research. METHOD: A MEDLINE search for articles reporting on IVIG treatment of paediatric neuroinflammatory, neurodevelopmental, and neurodegenerative conditions published before September 2015, excluding single case reports and those not in English. Owing to heterogeneous outcome measures, meta-analysis was not possible...
November 30, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27895554/systemic-radical-scavenger-treatment-of-a-mouse-model-of-rett-syndrome-merits-and-limitations-of-the-vitamin-e-derivative-trolox
#4
Oliwia A Janc, Marc A Hüser, Katharina Dietrich, Belinda Kempkes, Christiane Menzfeld, Swen Hülsmann, Michael Müller
Rett syndrome (RTT) is a severe neurodevelopmental disorder typically arising from spontaneous mutations in the X-chromosomal methyl-CpG binding protein 2 (MECP2) gene. The almost exclusively female Rett patients show an apparently normal development during their first 6-18 months of life. Subsequently, cognitive- and motor-impairment, hand stereotypies, loss of learned skills, epilepsy and irregular breathing manifest. Early mitochondrial impairment and oxidative challenge are considered to facilitate disease progression...
2016: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/27894686/the-use-of-the-lymphocyte-cytokinesis-block-micronucleus-assay-for-monitoring-pesticide-exposed-populations
#5
REVIEW
Claudia Bolognesi, Nina Holland
Pesticides are widely used around the world, and hundreds of millions of people are exposed annually in occupational and environmental settings. Numerous studies have demonstrated relationships between pesticide exposure and increased risk of cancers, neurodegenerative and neurodevelopmental disorders, respiratory diseases and diabetes. Assessment of genotoxicity of pesticides and biomonitoring their effect in exposed populations is critical for a better regulation and protection, but it can be complicated because pesticides are often used as complex mixtures...
October 2016: Mutation Research
https://www.readbyqxmd.com/read/27894440/when-autistic-behavior-suggests-a-disease-other-than-classic-autism
#6
REVIEW
Mark D Simms
Most neurodevelopmental disorders are defined by their clinical symptoms and many disorders share common features. Recently there has been an increase in the number of children diagnosed with autism spectrum disorder, although concerns have been raised about the accuracy of the reported prevalence rates. This article reviews the essential features of autism spectrum disorder and describes other conditions that may include similar symptoms that may be misdiagnosed as autism spectrum disorder (primary communication disorders, anxiety disorders, attachment disorders, intellectual disability, vision and hearing impairment, and normal variations)...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27891680/isuog-consensus-statement-on-current-understanding-of-the-association-of-neurodevelopmental-delay-and-congenital-heart-disease-impact-on-prenatal-counseling
#7
D Paladini, Z Alfirevic, J S Carvalho, A Khalil, G Malinger, J M Martinez, J Rychik, Y Ville, H Gardiner
No abstract text is available yet for this article.
November 27, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27888397/synaptosome-associated-protein-25-snap25-gene-association-analysis-revealed-risk-variants-for-asd-in-iranian-population
#8
Mohammad Reza Safari, Mir Davood Omrani, Rezvan Noroozi, Arezou Sayad, Shaghayegh Sarrafzadeh, Alireza Komaki, Fateme Asadzadeh Manjili, Mehrdokht Mazdeh, Ali Ghaleiha, Mohammad Taheri
Autism spectrum disorder (ASD) is a common, complex neurological condition, affecting approximately 1% of people worldwide. Monogenic neurodevelopmental disorders which showed autistic behavior patterns have suggested synaptic dysfunction, as a key mechanism in the pathophysiology of ASD. Subsequently, genes involved in synaptic signaling have been investigated with a priority for candidate gene studies. A synaptosomal-associated protein 25 (SNAP25) gene plays a crucial role in the central nervous system, contributing to exocytosis by targeting and fusion of vesicles to the cell membrane...
November 26, 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27886132/the-future-is-the-past-methylation-qtls-in-schizophrenia
#9
REVIEW
Anke Hoffmann, Michael Ziller, Dietmar Spengler
Genome-wide association studies (GWAS) have remarkably advanced insight into the genetic basis of schizophrenia (SCZ). Still, most of the functional variance in disease risk remains unexplained. Hence, there is a growing need to map genetic variability-to-genes-to-functions for understanding the pathophysiology of SCZ and the development of better treatments. Genetic variation can regulate various cellular functions including DNA methylation, an epigenetic mark with important roles in transcription and the mediation of environmental influences...
November 24, 2016: Genes
https://www.readbyqxmd.com/read/27882258/dysmorphic-facial-features-and-other-clinical-characteristics-in-two-patients-with-pex1-gene-mutations
#10
Mehmet Gunduz, Ozlem Unal
Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27877121/the-indispensable-roles-of-microglia-and-astrocytes-during-brain-development
#11
REVIEW
Kitty Reemst, Stephen C Noctor, Paul J Lucassen, Elly M Hol
Glia are essential for brain functioning during development and in the adult brain. Here, we discuss the various roles of both microglia and astrocytes, and their interactions during brain development. Although both cells are fundamentally different in origin and function, they often affect the same developmental processes such as neuro-/gliogenesis, angiogenesis, axonal outgrowth, synaptogenesis and synaptic pruning. Due to their important instructive roles in these processes, dysfunction of microglia or astrocytes during brain development could contribute to neurodevelopmental disorders and potentially even late-onset neuropathology...
2016: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/27867343/park2-microduplication-clinical-and-molecular-characterization-of-a-further-case-and-review-of-the-literature
#12
Orazio Palumbo, Pietro Palumbo, Maria P Leone, Raffaella Stallone, Teresa Palladino, Marcella Vendemiale, Stefano Palladino, Francesco Papadia, Massimo Carella, Rira Fischetto
We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we identified a 0.49-Mb microduplication in chromosome 6q26 inherited from the mother involving the PARK2 gene: arr[hg19] 6q26(162,672,821-163,163,143)×3 mat. To the best of our knowledge, this is the third patient to date described in whom a 6q26 microduplication encompassing only the PARK2 gene has been reported in medical literature...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27865453/neurophysiology-and-regulation-of-the-balance-between-excitation-and-inhibition-in-neocortical-circuits
#13
REVIEW
Roberta Tatti, Melissa S Haley, Olivia K Swanson, Tenzin Tselha, Arianna Maffei
Brain function relies on the ability of neural networks to maintain stable levels of activity, while experiences sculpt them. In the neocortex, the balance between activity and stability relies on the coregulation of excitatory and inhibitory inputs onto principal neurons. Shifts of excitation or inhibition result in altered excitability impaired processing of incoming information. In many neurodevelopmental and neuropsychiatric disorders, the excitability of local circuits is altered, suggesting that their pathophysiology may involve shifts in synaptic excitation, inhibition, or both...
September 29, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27865048/neuroligin-2-nonsense-variant-associated-with-anxiety-autism-intellectual-disability-hyperphagia-and-obesity
#14
Daniel J Parente, Caryn Garriga, Berivan Baskin, Ganka Douglas, Megan T Cho, Gabriel C Araujo, Marwan Shinawi
Neuroligins are post-synaptic, cellular adhesion molecules implicated in synaptic formation and function. NLGN2 is strongly linked to inhibitory, GABAergic signaling and is crucial for maintaining the excitation-inhibition balance in the brain. Disruption of the excitation-inhibition balance is associated with neuropsychiatric disease. In animal models, altered NLGN2 expression causes anxiety, developmental delay, motor discoordination, social impairment, aggression, and sensory processing defects. In humans, mutations in NLGN3 and NLGN4 are linked to autism and schizophrenia; NLGN2 missense variants are implicated in schizophrenia...
November 16, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27863079/prevalence-and-pattern-of-executive-dysfunction-in-school-age-children-with-congenital-heart-disease
#15
Jacqueline H Sanz, Madison M Berl, Anna C Armour, Jichuan Wang, Yao I Cheng, Mary T Donofrio
OBJECTIVE: Executive function, a set of cognitive skills important to social and academic outcomes, is a specific area of cognitive weakness in children with congenital heart disease (CHD). We evaluated the prevalence and profile of executive dysfunction in a heterogeneous sample of school aged children with CHD, examined whether children with executive dysfunction are receiving school services and support, and identified risk factors for executive dysfunction at school age. DESIGN: Ninety-one school aged patients completed questionnaires, including the Behavior Rating Inventory of Executive Function (BRIEF) and a medical history questionnaire...
November 11, 2016: Congenital Heart Disease
https://www.readbyqxmd.com/read/27862979/cerebral-tissue-oxygenation-index-and-lactate-at-24-hours-postoperative-predict-survival-and-neurodevelopmental-outcome-after-neonatal-cardiac-surgery
#16
Safwat A Aly, David Zurakowski, Penny Glass, Kami Skurow-Todd, Richard A Jonas, Mary T Donofrio
IMPORTANCE: There are no well-established noninvasive biomarkers for identifying patients at risk for poor outcome after surgery for congenital heart disease. Few studies have assessed prognostic accuracy of cerebral tissue oxygenation index (cTOI) measured by near infrared spectroscopy (NIRS). OBJECTIVE: To assess the utility of noninvasive NIRS monitoring as a predictor of outcomes after neonatal cardiac surgery through measurement of cTOI. To examine the utility of noninvasive NIRS monitoring in combination with lactate concentration and inotropic score in prediction of outcomes after neonatal cardiac surgery...
November 10, 2016: Congenital Heart Disease
https://www.readbyqxmd.com/read/27860518/molecular-dynamics-of-fmrp-and-other-rna-binding-proteins-in-meg-01-differentiation-the-role-of-mrnp-complexes-in-non-neuronal-development
#17
M McCoy, D Poliquin-Duchesneau, F Corbin
Asymmetrically differentiating cells are formed with the aid of RNA-binding proteins (RBPs), which can bind, stabilize, regulate, and transport target mRNAs. The loss of RBPs in neurons may lead to severe neurodevelopmental diseases such as the Fragile X Syndrome with the absence of the Fragile X Mental Retardation Protein (FMRP). Because the latter is ubiquitous and shares many similarities with other RBPs involved in the development of peripheral cells, we suggest that FMRP would have a role in the differentiation of all tissues where it is expressed...
December 2016: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/27857842/zebrafish-models-of-prader-willi-syndrome-fast-track-to-pharmacotherapeutics
#18
Emma D Spikol, Caroline E Laverriere, Maya Robnett, Gabriela Carter, Erin Wolfe, Eric Glasgow
Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder characterized by an insatiable appetite, leading to chronic overeating and obesity. Additional features include short stature, intellectual disability, behavioral problems and incomplete sexual development. Although significant progress has been made in understanding the genetic basis of PWS, the mechanisms underlying the pathogenesis of the disorder remain poorly understood. Treatment for PWS consists mainly of palliative therapies; curative therapies are sorely needed...
March 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/27851901/exposure-to-ambient-ultrafine-particulate-matter-alters-the-expression-of-genes-in-primary-human-neurons
#19
Parrisa Solaimani, Arian Saffari, Constantinos Sioutas, Stephen C Bondy, Arezoo Campbell
Exposure to ambient particulate matter (PM) has been associated with the onset of neurodevelopmental and neurodegenerative disorders, but the mechanism of toxicity remains unclear. To gain insight into this neurotoxicity, this study sought to examine global gene expression changes caused by exposure to ambient ultrafine PM. Microarray analysis was performed on primary human neurons derived from fetal brain tissue after a 24h exposure to 20μg/mL of ambient ultrafine particles. We found a majority of the changes in noncoding RNAs, which are involved in epigenetic regulation of gene expression, and thereby could impact the expression of several other protein coding gene targets...
November 13, 2016: Neurotoxicology
https://www.readbyqxmd.com/read/27848077/identification-of-new-trip12-variants-and-detailed-clinical-evaluation-of-individuals-with-non-syndromic-intellectual-disability-with-or-without-autism
#20
Nuria C Bramswig, H-J Lüdecke, M Pettersson, B Albrecht, R A Bernier, K Cremer, E E Eichler, D Falkenstein, J Gerdts, S Jansen, A Kuechler, M Kvarnung, A Lindstrand, D Nilsson, A Nordgren, R Pfundt, L Spruijt, H M Surowy, B B A de Vries, T Wieland, H Engels, T M Strom, T Kleefstra, D Wieczorek
The ubiquitin pathway is an enzymatic cascade including activating E1, conjugating E2, and ligating E3 enzymes, which governs protein degradation and sorting. It is crucial for many physiological processes. Compromised function of members of the ubiquitin pathway leads to a wide range of human diseases, such as cancer, neurodegenerative diseases, and neurodevelopmental disorders. Mutations in the thyroid hormone receptor interactor 12 (TRIP12) gene (OMIM 604506), which encodes an E3 ligase in the ubiquitin pathway, have been associated with autism spectrum disorder (ASD)...
November 15, 2016: Human Genetics
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