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Neurodevelopmental diseases

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https://www.readbyqxmd.com/read/29146047/maternal-immune-activation-delays-excitatory-to-inhibitory-gamma-aminobutyric-acid-switch-in-offspring
#1
Irene Corradini, Elisa Focchi, Marco Rasile, Raffaella Morini, Genni Desiato, Romana Tomasoni, Michela Lizier, Elsa Ghirardini, Riccardo Fesce, Diego Morone, Isabella Barajon, Flavia Antonucci, Davide Pozzi, Michela Matteoli
BACKGROUND: The association between maternal infection and neurodevelopmental defects in progeny is well established, although the biological mechanisms and the pathogenic trajectories involved have not been defined. METHODS: Pregnant dams were injected intraperitoneally at gestational day 9 with polyinosinic:polycytidylic acid. Neuronal development was assessed by means of electrophysiological, optical, and biochemical analyses. RESULTS: Prenatal exposure to polyinosinic:polycytidylic acid causes an imbalanced expression of the Na(+)-K(+)-2Cl(-) cotransporter 1 and the K(+)-Cl(-) cotransporter 2 (KCC2)...
November 14, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29143980/white-matter-maturation-during-12-months-in-individuals-at-ultra-high-risk-for-psychosis
#2
K Krakauer, M Nordentoft, B Y Glenthøj, J M Raghava, D Nordholm, L Randers, L B Glenthøj, B H Ebdrup, E Rostrup
OBJECTIVE: The neurodevelopmental hypothesis of psychosis suggests that disrupted white matter (WM) maturation underlies disease onset. In this longitudinal study, we investigated WM connectivity and compared WM changes between individuals at ultra-high-risk for psychosis (UHR) and healthy controls (HCs). METHOD: Thirty UHR individuals and 23 HCs underwent MR diffusion tensor imaging before and after 12 months of non-manualized standard care. Positive and negative symptoms and level of functioning were assessed...
November 16, 2017: Acta Psychiatrica Scandinavica
https://www.readbyqxmd.com/read/29142228/genome-wide-mapping-of-genetic-determinants-influencing-dna-methylation-and-gene-expression-in-human-hippocampus
#3
Herbert Schulz, Ann-Kathrin Ruppert, Stefan Herms, Christiane Wolf, Nazanin Mirza-Schreiber, Oliver Stegle, Darina Czamara, Andreas J Forstner, Sugirthan Sivalingam, Susanne Schoch, Susanne Moebus, Benno Pütz, Axel Hillmer, Nadine Fricker, Hartmut Vatter, Bertram Müller-Myhsok, Markus M Nöthen, Albert J Becker, Per Hoffmann, Thomas Sander, Sven Cichon
Emerging evidence emphasizes the strong impact of regulatory genomic elements in neurodevelopmental processes and the complex pathways of brain disorders. The present genome-wide quantitative trait loci analyses explore the cis-regulatory effects of single-nucleotide polymorphisms (SNPs) on DNA methylation (meQTL) and gene expression (eQTL) in 110 human hippocampal biopsies. We identify cis-meQTLs at 14,118 CpG methylation sites and cis-eQTLs for 302 3'-mRNA transcripts of 288 genes. Hippocampal cis-meQTL-CpGs are enriched in flanking regions of active promoters, CpG island shores, binding sites of the transcription factor CTCF and brain eQTLs...
November 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/29141024/quantifying-indices-of-short-and-long-range-white-matter-connectivity-at-each-cortical-vertex
#4
Maria Carmela Padula, Marie Schaer, Elisa Scariati, A Kadir Mutlu, Daniela Zöller, Maude Schneider, Stephan Eliez
Several neurodevelopmental diseases are characterized by impairments in cortical morphology along with altered white matter connectivity. However, the relationship between these two measures is not yet clear. In this study, we propose a novel methodology to compute and display metrics of white matter connectivity at each cortical point. After co-registering the extremities of the tractography streamlines with the cortical surface, we computed two measures of connectivity at each cortical vertex: the mean tracts' length, and the proportion of short- and long-range connections...
2017: PloS One
https://www.readbyqxmd.com/read/29135961/probiotic-prebiotic-and-brain-development
#5
REVIEW
Tomás Cerdó, Alicia Ruíz, Antonio Suárez, Cristina Campoy
Recently, a number of studies have demonstrated the existence of a link between the emotional and cognitive centres of the brain and peripheral functions through the bi-directional interaction between the central nervous system and the enteric nervous system. Therefore, the use of bacteria as therapeutics has attracted much interest. Recent research has found that there are a variety of mechanisms by which bacteria can signal to the brain and influence several processes in relation to neurotransmission, neurogenesis, and behaviour...
November 14, 2017: Nutrients
https://www.readbyqxmd.com/read/29133208/homozygous-loss-of-function-brca1-variant-causing-a-fanconi-anemia-like-phenotype-a-clinical-report-and-review-of-previous-patients
#6
Bruna L Freire, Thais K Homma, Mariana F A Funari, Antônio M Lerario, Aline de Medeiros Leal, Elvira D Rodrigues Pereira Velloso, Alexsandra C Malaquias, Alexander A L Jorge
BACKGROUND: Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. CLINICAL REPORT: The proband was a 2.5 year-old girl with severe short stature, microcephaly, neurodevelopmental delay, congenital heart disease and dysmorphic features...
November 10, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29132234/upcycling-umbilical-cords-bridging-regenerative-medicine-with-neonatology
#7
Alvaro Moreira, Yasmeen Alayli, Saloni Balgi, Caitlyn Winter, Samuel Kahlenberg, Shamimunisa Mustafa, Peter Hornsby
Preterm birth is a major health concern that affects 10% of all worldwide deliveries. Many preterm infants are discharged from the hospital with morbidities that lead to an increased risk for neurodevelopmental impairment, recurrent hospitalizations, and life-long conditions. Unfortunately, the treatment of these conditions is palliative rather than curative, which calls for novel and innovative strategies. Progress in regenerative medicine has offered therapeutic options for many of these conditions. Specifically, human umbilical cord mesenchymal stem cells (MSCs) and cord blood (UCB) cells have shown promise in treating adult onset diseases...
November 13, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29129319/modeling-the-interplay-between-neurons-and-astrocytes-in-autism-using-human-induced-pluripotent-stem-cells
#8
Fabiele Baldino Russo, Beatriz Camille Freitas, Graciela Conceição Pignatari, Isabella Rodrigues Fernandes, Jonathan Sebat, Alysson Renato Muotri, Patricia Cristina Baleeiro Beltrão-Braga
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with unclear etiology and imprecise genetic causes. The main goal of this work was to investigate neuronal connectivity and the interplay between neurons and astrocytes from individuals with nonsyndromic ASD using induced pluripotent stem cells. METHODS: Induced pluripotent stem cells were derived from a clinically well-characterized cohort of three individuals with nonsyndromic ASD sharing common behaviors and three control subjects, two clones each...
October 3, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29128849/genetic-strategies-to-tackle-neurological-diseases-in-fruit-flies
#9
REVIEW
Mümine Şentürk, Hugo J Bellen
Drosophila melanogaster is a genetic model organism that has contributed to the discovery of numerous genes whose human homologues are associated with diseases. The development of sophisticated genetic tools to manipulate its genome accelerates the discovery of the genetic basis of undiagnosed human diseases and the elucidation of molecular pathogenic events of known and novel diseases. Here, we discuss various approaches used in flies to assess the function of the fly homologues of disease-associated genes...
November 8, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29127518/identifying-molecular-mediators-of-environmentally-enhanced-neurogenesis
#10
REVIEW
Brian E Eisinger, Xinyu Zhao
Adult hippocampal neurogenesis occurs throughout life and supports healthy brain functions. The production of new neurons decreases with age, and deficiencies in adult neurogenesis are associated with neurodevelopmental and degenerative disease. The rate of neurogenesis is dynamically sensitive to an individual's environmental conditions and experiences, and certain stimuli are known robustly to enhance neurogenesis in rodent models, including voluntary exercise, enriched environment, and electroconvulsive shock...
November 10, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/29125978/decoding-hidden-messages-in-neurons-insights-from-epitranscriptome-controlled-and-specialized-ribosome-controlled-translation
#11
REVIEW
Yi-Shuian Huang, Wen-Hsin Lu
Activity-regulated protein synthesis, especially in the restricted synaptic domains, is critical to maintaining connections and communication between neurons. Accumulating evidence has linked dysregulated translation to various neurodevelopmental or neurodegenerative diseases. In the past 3 decades, after finding ribosomes and specific mRNAs localized around synapses, a significant amount of work has furthered our understanding of how the genetic sequences in mRNAs and their cognate RNA-binding proteins are coordinated to build up synaptic proteomes...
November 7, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29118365/impaired-development-of-the-cerebral-cortex-in-infants-with-congenital-heart-disease-is-correlated-to-reduced-cerebral-oxygen-delivery
#12
Christopher J Kelly, Antonios Makropoulos, Lucilio Cordero-Grande, Jana Hutter, Anthony Price, Emer Hughes, Maria Murgasova, Rui Pedro A G Teixeira, Johannes K Steinweg, Sagar Kulkarni, Loay Rahman, Hui Zhang, Daniel C Alexander, Kuberan Pushparajah, Daniel Rueckert, Joseph V Hajnal, John Simpson, A David Edwards, Mary A Rutherford, Serena J Counsell
Neurodevelopmental impairment is the most common comorbidity associated with complex congenital heart disease (CHD), while the underlying biological mechanism remains unclear. We hypothesised that impaired cerebral oxygen delivery in infants with CHD is a cause of impaired cortical development, and predicted that cardiac lesions most associated with reduced cerebral oxygen delivery would demonstrate the greatest impairment of cortical development. We compared 30 newborns with complex CHD prior to surgery and 30 age-matched healthy controls using brain MRI...
November 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29117434/co-culture-of-neurons-and-microglia
#13
Pamela J Roqué, Lucio G Costa
Microglia, the resident immune cells of the brain, have been implicated in numerous neurodegenerative and neurodevelopmental diseases. Activation of microglia by a variety of stimuli induces the release of factors, including pro- and anti-inflammatory cytokines and reactive oxygen species, that contribute to modulating neuro-inflammation and oxidative stress, two crucial processes linked to disorders of the central nervous system. The in vitro techniques described here will provide a set of protocols for the isolation and plating of primary cerebellar granule neurons, primary cortical microglia from a mixed glia culture, and methods for co-culturing both cell types...
November 8, 2017: Current Protocols in Toxicology
https://www.readbyqxmd.com/read/29117331/neurodevelopmental-impairment-in-children-after-group-b-streptococcal-disease-worldwide-systematic-review-and-meta-analyses
#14
Maya Kohli-Lynch, Neal J Russell, Anna C Seale, Ziyaad Dangor, Cally J Tann, Carol J Baker, Linda Bartlett, Clare Cutland, Michael G Gravett, Paul T Heath, Margaret Ip, Kirsty Le Doare, Shabir A Madhi, Craig E Rubens, Samir K Saha, Stephanie Schrag, Ajoke Sobanjo-Ter Meulen, Johan Vekemans, Catherine O'Sullivan, Firdose Nakwa, Hechmi Ben Hamouda, Habib Soua, Kyriaki Giorgakoudi, Shamez Ladhani, Theresa Lamagni, Hilary Rattue, Caroline Trotter, Joy E Lawn
Background: Survivors of infant group B streptococcal (GBS) disease are at risk of neurodevelopmental impairment (NDI), a burden not previously systematically quantified. This is the 10th of 11 articles estimating the burden of GBS disease. Here we aimed to estimate NDI in survivors of infant GBS disease. Methods: We conducted systematic literature reviews (PubMed/Medline, Embase, Latin American and Caribbean Health Sciences Literature [LILACS], World Health Organization Library Information System [WHOLIS], and Scopus) and sought unpublished data on the risk of NDI after invasive GBS disease in infants <90 days of age...
November 6, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29115051/to-the-end-of-the-line-axonal-mrna-transport-and-local-translation-in-health-and-neurodegenerative-disease
#15
REVIEW
Christopher J Costa, Dianna E Willis
Axons and growth cones, by their very nature far removed from the cell body, encounter unique environments and require distinct populations of proteins. It seems only natural, then, that they have developed mechanisms to locally synthesize a host of proteins required to perform their specialized functions. Acceptance of this ability has taken decades; however, there is now consensus that axons do indeed have the capacity for local translation, and that this capacity is even retained into adulthood. Accumulating evidence supports the role of locally synthesized proteins in the proper development, maintenance, and function of neurons, and newly emerging studies also suggest that disruption in this process has implications in a number of neurodevelopmental and neurodegenerative diseases...
November 7, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/29113524/how-does-preeclampsia-affect-neonates-highlights-in-the-disease-s-immunity
#16
Lina R Marins, Leonardo B Anizelli, Ana L Sarquis, Mariana D Romanowski
INTRODUCTION: Preeclampsia (PE) is the primary obstetrical cause in one to four perinatal deaths. Although the etiology and pathogenesis of preeclampsia is not fully known, a proinflammatory immune state prevails and can disrupt fetal hematopoiesis. Some of the effects on the newborn include neonatal thrombocytopenia, neutropenia, a reduction in T regulatory cells and an increased cytotoxic natural killer cell profile. METHOD: Electronic databases were searched, and defined criteria were applied to select articles for review...
November 7, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29110823/assessment-and-significance-of-long-term-outcomes-in-pediatric-surgery
#17
Hanneke IJsselstijn, Saskia J Gischler, René M H Wijnen, Dick Tibboel
Treatment modalities for newborns with anatomical congenital anomalies have greatly improved over the past decades, with a concomitant increase in survival. This review will briefly discuss specific long-term outcomes to illustrate, which domains deserve to be considered in long-term follow-up of patients with anatomical congenital anomalies. Apart from having disease-specific morbidities these children are at risk for impaired neurodevelopmental problems and school failure, which may affect participation in society in later life...
October 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/29108899/kallmann-syndrome-phenotype-and-genotype-of-hypogonadotropic-hypogonadism
#18
M I Stamou, N A Georgopoulos
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a genetically and clinically heterogeneous disorder. Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterized. While most mutations are inherited in X-linked, autosomal dominant, or autosomal recessive pattern, several IGD genes are shown to interact with each other in an oligogenic manner. In addition, while the genes involved in the pathogenesis of IGD act on either neurodevelopmental or neuroendocrine pathways, a subset of genes are involved in both pathways, acting as "overlap genes"...
November 3, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29104017/neurodevelopmental-outcome-and-health-related-quality-of-life-in-children-with-single-ventricle-heart-disease-before-fontan-procedure
#19
Bettina Reich, Kristina Heye, Ruth Tuura, Ingrid Beck, Kristina Wetterling, Andreas Hahn, Karoline Hofmann, Dietmar Schranz, Hakan Akintürk, Beatrice Latal, Walter Knirsch
OBJECTIVE: Neurodevelopmental impairment and impaired quality of life constitute a major source of morbidity among children with complex congenital heart disease (CHD), in particular for single ventricle morphologies. Risk factors and quality of life determining clinical and neurodevelopmental outcome at two years of age are examined. METHODS: In a two-center cohort study, 48 patients with SV-morphology (26 HLHS, 22 other types of univentricular heart defect) have been examined prior Fontan procedure between 2010 and 2015...
November 2, 2017: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29101226/presentation-and-diagnosis-of-tuberous-sclerosis-complex-in-infants
#20
Peter E Davis, Rajna Filip-Dhima, Georgios Sideridis, Jurriaan M Peters, Kit Sing Au, Hope Northrup, E Martina Bebin, Joyce Y Wu, Darcy Krueger, Mustafa Sahin
OBJECTIVES: Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be challenging to diagnose in infants because they often do not show many clinical signs early in life. In this study, we describe the timing and pattern of presenting and diagnostic features in a prospective longitudinal study of infants with TSC. METHODS: Two multicenter, prospective studies enrolled 130 infants with definite TSC by clinical or genetic criteria and followed them longitudinally up to 36 months of age...
November 3, 2017: Pediatrics
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