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https://www.readbyqxmd.com/read/29793154/juvenile-treatment-with-mglur2-3-agonist-prevents-schizophrenia-like-phenotypes-in-adult-by-acting-through-gsk3%C3%AE
#1
Bo Xing, Genie Han, Min-Juan Wang, Melissa A Snyder, Wen-Jun Gao
Prodromal memory deficits represent an important marker for the development of schizophrenia (SZ), in which glutamatergic hypofunction occurs in the prefrontal cortex (PFC). The mGluR2/3 agonist LY379268 (LY37) attenuates excitatory N-methyl-D-aspartate receptor (NMDAR)-induced neurotoxicity, a central pathological characteristic of glutamatergic hypofunction. We therefore hypothesized that early treatment with LY37 would rescue cognitive deficits and confer benefits for SZ-like behaviors in adults. To test this, we assessed whether early intervention with LY37 would improve learning outcomes in the Morris Water Maze for rats prenatally exposed to methylazoxymethanol acetate (MAM), a neurodevelopmental SZ model...
May 14, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29793060/a-computational-framework-for-the-detection-of-subcortical-brain-dysmaturation-in-neonatal-mri-using-3d-convolutional-neural-networks
#2
Rafael Ceschin, Alexandria Zahner, William Reynolds, Jenna Gaesser, Giulio Zuccoli, Cecilia W Lo, Vanathi Gopalakrishnan, Ashok Panigrahy
Deep neural networks are increasingly being used in both supervised learning for classification tasks and unsupervised learning to derive complex patterns from the input data. However, the successful implementation of deep neural networks using neuroimaging datasets requires adequate sample size for training and well-defined signal intensity based structural differentiation. There is a lack of effective automated diagnostic tools for the reliable detection of brain dysmaturation in the neonatal period, related to small sample size and complex undifferentiated brain structures, despite both translational research and clinical importance...
May 21, 2018: NeuroImage
https://www.readbyqxmd.com/read/29792313/one-gene-many-endocrine-and-metabolic-syndromes-pten-opathies-and-precision-medicine
#3
Lamis Yehia, Charis Eng
An average of 10% of all cancers (range 1-40%) are caused by heritable mutations and over the years, have become powerful models for precision medicine practice. Furthermore, such cancer predisposition genes for seemingly rare syndromes have turned out to help explain mechanisms of sporadic carcinogenesis and often inform normal development. The tumor suppressor PTEN encodes a ubiquitously expressed phosphatase that counteracts the PI3K/AKT/mTOR cascade - one of the most critical growth-promoting signaling pathways...
May 23, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29792283/repurposing-available-drugs-for-neurodevelopmental-disorders-the-fragile-x-experience
#4
REVIEW
Michael R Tranfaglia, Clare Thibodeaux, Daniel J Mason, David Brown, Ian Roberts, Richard Smith, Tim Guilliams, Patricia Cogram
Many available drugs have been repurposed as treatments for neurodevelopmental disorders. In the specific case of fragile X syndrome, many clinical trials of available drugs have been conducted with the goal of disease modification. In some cases, detailed understanding of basic disease mechanisms has guided the choice of drugs for clinical trials, and several notable successes in fragile X clinical trials have led to common use of drugs such as minocycline in routine medical practice. Newer technologies like Disease-Gene Expression Matching (DGEM) may allow for more rapid identification of promising repurposing candidates...
May 4, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29791909/iodine-induced-fetal-hypothyroidism-diagnosis-and-treatment-with-intra-amniotic-levothyroxine
#5
Macy T Hardley, Andrew H Chon, Jorge Mestman, Caroline T Nguyen, Mitchell E Geffner, Ramen H Chmait
BACKGROUND: Iodine is necessary for fetal thyroid development. Excess maternal intake of iodine can cause fetal hypothyroidism due to the inability to escape from the Wolff-Chaikoff effect in utero. CASE REPORT: We report a case of fetal hypothyroid goiter secondary to inadvertent excess maternal iodine ingestion from infertility supplements. The fetus was successfully treated with intra-amniotic levothyroxine injections. Serial fetal blood sampling confirmed fetal escape from the Wolff-Chaikoff effect in the mid third trimester...
May 23, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29791872/gene-expression-in-cord-blood-links-genetic-risk-for-neurodevelopmental-disorders-with-maternal-psychological-distress-and-adverse-childhood-outcomes
#6
Michael S Breen, Aliza P Wingo, Nastassja Koen, Kirsten A Donald, Mark Nicol, Heather J Zar, Kerry J Ressler, Joseph D Buxbaum, Dan J Stein
Prenatal exposure to maternal stress and depression has been identified as a risk factor for adverse behavioral and neurodevelopmental outcomes in early childhood. However, the molecular mechanisms through which maternal psychopathology shapes offspring development remain poorly understood. We applied transcriptome-wide screens to 149 umbilical cord blood samples from neonates born to mothers with posttraumatic stress disorder (PTSD; n=20), depression (n=31) and PTSD with comorbid depression (n=13), compared to carefully matched trauma exposed controls (n=23) and healthy mothers (n=62)...
May 20, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29791504/periconceptional-maternal-dairy-rich-dietary-pattern-is-associated-with-prenatal-cerebellar-growth
#7
Francesca Parisi, Melek Rousian, Irene V Koning, Sten P Willemsen, Jeanne H M de Vries, Eric A P Steegers, Régine P M Steegers-Theunissen
BACKGROUND: Maternal nutrition during pregnancy has been related to intrauterine brain development and neurodevelopmental disabilities in adult life. We aim to investigate associations between periconceptional maternal dietary patterns and prenatal cerebellar growth from the first trimester onwards. MATERIALS AND METHODS: 126 women with singleton non-malformed pregnancies were enrolled before 8 weeks of gestation in the Rotterdam periconceptional cohort between 2013 and 2015...
2018: PloS One
https://www.readbyqxmd.com/read/29789947/relationship-between-brain-function-aeeg-and-brain-structure-mri-and-their-predictive-value-for-neurodevelopmental-outcome-of-preterm-infants
#8
Britta Hüning, Tobias Storbeck, Nora Bruns, Frauke Dransfeld, Julia Hobrecht, Julia Karpienski, Selma Sirin, Bernd Schweiger, Christel Weiss, Ursula Felderhoff-Müser, Hanna Müller
To improve the prediction of neurodevelopmental outcome in very preterm infants, this study used the combination of amplitude-integrated electroencephalography (aEEG) within the first 72 h of life and cranial magnetic resonance imaging (MRI) at term equivalent age. A single-center cohort of 38 infants born before 32 weeks of gestation was subjected to both investigations. Structural measurements were performed on MRI. Multiple regression analysis was used to identify independent factors including functional and structural brain measurements associated with outcome at a corrected age of 24 months...
May 22, 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29789464/role-of-mtor-complexes-in-neurogenesis
#9
REVIEW
Francesca LiCausi, Nathaniel W Hartman
Dysregulation of neural stem cells (NSCs) is associated with several neurodevelopmental disorders, including epilepsy and autism spectrum disorder. The mammalian target of rapamycin (mTOR) integrates the intracellular signals to control cell growth, nutrient metabolism, and protein translation. mTOR regulates many functions in the development of the brain, such as proliferation, differentiation, migration, and dendrite formation. In addition, mTOR is important in synaptic formation and plasticity. Abnormalities in mTOR activity is linked with severe deficits in nervous system development, including tumors, autism, and seizures...
May 22, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29789371/identification-of-new-risk-factors-for-rolandic-epilepsy-cnv-at-xp22-31-and-alterations-at-cholinergic-synapses
#10
Laura Addis, William Sproviero, Sanjeev V Thomas, Roberto H Caraballo, Stephen J Newhouse, Kumudini Gomez, Elaine Hughes, Maria Kinali, David McCormick, Siobhan Hannan, Silvia Cossu, Jacqueline Taylor, Cigdem I Akman, Steven M Wolf, David E Mandelbaum, Rajesh Gupta, Rick A van der Spek, Dario Pruna, Deb K Pal
BACKGROUND: Rolandic epilepsy (RE) is the most common genetic childhood epilepsy, consisting of focal, nocturnal seizures and frequent neurodevelopmental impairments in speech, language, literacy and attention. A complex genetic aetiology is presumed in most, with monogenic mutations in GRIN2A accounting for >5% of cases. OBJECTIVE: To identify rare, causal CNV in patients with RE. METHODS: We used high-density SNP arrays to analyse the presence of rare CNVs in 186 patients with RE from the UK, the USA, Sardinia, Argentina and Kerala, India...
May 22, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29789054/applying-developmentally-supportive-principles-to-diapering-in-the-nicu-what-we-know
#11
Media Esser, Sharon Dore, Felicia Fitzgerald, Kelli Kelley, Joanne Kuller, Sue Ludwig, Debianne Peterman
Developmental care measures are integrated in the NICU, but these measures are largely overlooked when it comes to standard care activities such as diapering. This general review of developmental care in the NICU discusses how caregivers can apply appropriate, individualized developmental care measures to diapering regimens. Numerous opportunities to expand developmental care measures into diapering care are identified; these opportunities can protect and promote sleep for hospitalized infants, enhance the diapering environment, minimize stress that infants may experience with diapering, improve infant skin health outcomes through use of evidence-based skin care practices, and foster family involvement during diapering care in the NICU...
May 1, 2018: Neonatal Network: NN
https://www.readbyqxmd.com/read/29789033/the-neurological-examination-adapted-for-neuropsychiatry
#12
Sheldon Benjamin, Margo D Lauterbach
The neuropsychiatric examination includes standard neurological and cognitive examination techniques with several additional observations and tasks designed to capture abnormalities common among patients with neuropsychiatric disorders or neurocognitive complaints. Although useful as a screening tool, a single standardized rating scale such as the Mini Mental State Examination (MMSE) or the Montreal Cognitive Assessment (MoCA) is insufficient to establish a neuropsychiatric diagnosis. Extra attention is paid to findings commonly seen in the setting of psychiatric disorders, dementias, movement disorders, or dysfunction of cortical or subcortical structures...
May 23, 2018: CNS Spectrums
https://www.readbyqxmd.com/read/29788202/quantitative-proteomics-reveals-neuronal-ubiquitination-of-rngo-ddi1-and-several-proteasomal-subunits-by-ube3a-accounting-for-the-complexity-of-angelman-syndrome
#13
Juanma Ramirez, Benoit Lectez, Nerea Osinalde, Monika Sivá, Nagore Elu, Kerman Aloria, Michaela Procházková, Coralia Perez, Jose Martínez-Hernández, Rosa Barrio, Klára Grantz Šašková, Jesus M Arizmendi, Ugo Mayor
Angelman syndrome is a complex neurodevelopmental disorder caused by the lack of function in the brain of a single gene, UBE3A. The E3 ligase coded by this gene is known to build K48-linked ubiquitin chains, a modification historically considered to target substrates for degradation by the proteasome. However, a change in protein abundance is not proof that a candidate UBE3A substrate is indeed ubiquitinated by UBE3A. We have here used an unbiased ubiquitin proteomics approach, the bioUb strategy, to identify 79 proteins that appear more ubiquitinated in the Drosophila photoreceptor cells when Ube3a is over-expressed...
June 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29788201/genetic-variants-in-autism-related-cntnap2-impair-axonal-growth-of-cortical-neurons
#14
Giorgia Canali, Marta Garcia, Bruno Hivert, Delphine Pinatel, Aline Goullancourt, Ksenia Oguievetskaia, Margaux Saint-Martin, Jean-Antoine Girault, Catherine Faivre-Sarrailh, Laurence Goutebroze
The CNTNAP2 gene, coding for the cell adhesion glycoprotein Caspr2, is thought to be one of the major susceptibility genes for autism spectrum disorder (ASD). A large number of rare heterozygous missense CNTNAP2 variants have been identified in ASD patients. However, most of them are inherited from an unaffected parent, questioning their clinical significance. In the present study, we evaluate their impact on neurodevelopmental functions of Caspr2 in a heterozygous genetic background. Performing cortical neuron cultures from mouse embryos, we demonstrate that Caspr2 plays a dose-dependent role in axon growth in vitro...
June 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29787923/epileptic-spasms-evidence-for-oral-corticosteroids-and-implications-for-low-and-middle-income-countries
#15
REVIEW
Sharika V Raga, Jo M Wilmshurst
Implementation of international guidelines for the treatment of epileptic spasms, is challenging when access to adrenocorticotrophic hormone (ACTH) and vigabatrin is restricted, especially in Low and Middle Income Countries (LMIC). Oral corticosteroids are alternative interventions but evidence for the optimal agent, dose, duration, efficacy and long-term effects is lacking. A systematic review of the literature was performed to assess the quality of evidence of prednisone and prednisolone (oral corticosteroids) for the management of epileptic spasms...
May 19, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29787864/the-neonatal-brain-in-critical-congenital-heart-disease-insights-and-future-directions
#16
REVIEW
Shabnam Peyvandi, Beatrice Latal, Steven P Miller, Patrick S McQuillen
Neurodevelopmental outcomes are impaired in survivors of critical congenital heart disease (CHD) in several developmental domains including motor, cognitive and sensory outcomes. These deficits can extend into the adolescent and early adulthood years. The cause of these neurodevelopmental impairments is multi-factorial and includes patient specific risk factors, cardiac anatomy and physiology as well as brain changes seen on MRI. Advances in imaging techniques have identified delayed brain development in the neonate with critical CHD as well as acquired brain injury...
May 19, 2018: NeuroImage
https://www.readbyqxmd.com/read/29787855/dysbiosis-of-microbiome-and-probiotic-treatment-in-a-genetic-model-of-autism-spectrum-disorders
#17
Tabouy Laure, Getselter Dimitry, Ziv Oren, Karpuj Marcela, Tabouy Timothée, Maayouf Rasha, Werbner Nir, Ben-Amram Hila, Nuriel-Ohayon Meital, Koren Omry, Elliott Evan
Recent studies have determined that the microbiome has direct effects on behavior, and may be dysregulated in neurodevelopmental conditions. Considering that neurodevelopmental conditions, such as autism, have a strong genetic etiology, it is necessary to understand if genes associated with neurodevelopmental disorders, such as Shank3, can influence the gut microbiome, and if probiotics can be a therapeutic tool. In this study, we have identified dysregulation of several genera and species of bacteria in the gut and colon of both male and female Shank3 KO mice...
May 19, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29786810/-epilepsy-and-comorbid-neurodevelopmental-disorders
#18
Viviann Nordin, Ingrid B Olsson, Torbjörn Tomson
In children and adults with epilepsy, it is important to be aware of and diagnose common comorbidities that may have a large impact on quality of life. Comorbid neurodevelopmental disorders include intellectual disability, autism, and attention deficit hyperactivity disorder (ADHD). Depression and anxiety are common findings, and also the risk of psychosis is increased. The medication used to treat these comorbidities is found to be effective with little risks of seizure exacerbation, i.e. medication with methylphenidate, selective serotonin reuptake inhibitors (SSRIs) and second generation neuroleptics...
May 22, 2018: Läkartidningen
https://www.readbyqxmd.com/read/29785793/outcomes-associated-with-fetal-parvovirus-b19-infection-a-systematic-review-and-meta-analysis
#19
REVIEW
Francesca Bascietto, Marco Liberati, Daniela Murgano, Danilo Buca, Antonia Iacovelli, Maria Elena Flacco, Lamberto Manzoli, Alessandra Familiari, Giovanni Scambia, Francesco D'Antonio
OBJECTIVE: To explore the outcome of fetuses affected by congenital Parvovirus B19 (PB19) Infection. METHODS: The outcomes observed were: miscarriage, perinatal death (PND), intra-uterine death (IUD), neonatal death (NND), spontaneous resolution of hydrops or fetal anemia, intra-uterine transfusion (IUT), resolution of hydrops or anemia after transfusion, fetal loss following transfusion, abnormal brain scan after birth, abnormal neurodevelopmental outcome. All the observed outcomes were reported in fetuses presenting and in those not presenting signs of hydrops on ultrasound...
May 22, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29784234/cosleeping-and-behavioral-sleep-problems-in-school-aged-children-with-neurodevelopmental-and-mental-health-disorders
#20
María-Felisa Bastida-Pozuelo, Lisa J Meltzer, María-Montserrat Sánchez-Ortuño
The aim of this study was to explore the presence of sleep-related complaints and their relationship to cosleeping in a sample of 57 children with mental health disorders. Information about the practice of cosleeping was collected through an interview and behavioral sleep problems were evaluated with a subset of items from the Spanish version of the Pediatric Sleep Questionnaire (PSQ). Controlling for age, cosleepers scored higher on insomnia, daytime sleepiness and poor sleep scheduling, compared to solitary sleepers...
June 2018: Archives of Psychiatric Nursing
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