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Neurodevelopmental diseases

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https://www.readbyqxmd.com/read/28938230/outcomes-of-congenital-cytomegalovirus-disease-following-maternal-primary-and-non-primary-infection
#1
Antonietta Giannattasio, Pasquale Di Costanzo, Arianna De Matteis, Paola Milite, Daniela De Martino, Laura Bucci, Maria Rosaria Augurio, Carmela Bravaccio, Teresa Ferrara, Letizia Capasso, Francesco Raimondi
BACKGROUND: Natural history and long term prognosis of congenital cytomegalovirus (CMV) disease according to maternal primary versus non-primary infection are not clearly documented. OBJECTIVE: To investigate clinical, laboratory and neuroimaging features at onset and long term outcome of congenitally CMV-infected patients born to mothers with non-primary infection compared with a group of patients born to mothers with primary infection. STUDY DESIGN: Consecutive neonates born from 2002 to 2015 were considered eligible for the study...
September 14, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28935587/glutamatergic-synapses-in-neurodevelopmental-disorders
#2
REVIEW
Edoardo Moretto, Luca Murru, Giuseppe Martano, Jenny Sassone, Maria Passafaro
Neurodevelopmental disorders (NDDs) are a group of diseases whose symptoms arise during childhood or adolescence and that impact several higher cognitive functions such as learning, sociability and mood. Accruing evidence suggests that a shared pathogenic mechanism underlying these diseases is the dysfunction of glutamatergic synapses. We summarize present knowledge on autism spectrum disorders (ASD), intellectual disability (ID), Down syndrome (DS), Rett syndrome (RS) and attention-deficit hyperactivity disorder (ADHD), highlighting the involvement of glutamatergic synapses and receptors in these disorders...
September 18, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28923474/beyond-the-inhaled-nitric-oxide-in-persistent-pulmonary-hypertension-of-the-newborn
#3
REVIEW
Mei-Yin Lai, Shih-Ming Chu, Satyan Lakshminrusimha, Hung-Chih Lin
Persistent pulmonary hypertension (PPHN) is a consequence of failed pulmonary vascular transition at birth and leads to pulmonary hypertension with shunting of deoxygenated blood across the ductus arteriosus (DA) and foramen ovale (FO) resulting in severe hypoxemia, and it may eventually lead to life-threatening circulatory failure. PPHN is a serious event affecting both term and preterm infants in the neonatal intensive care unit. It is often associated with diseases such as congenital diaphragmatic hernia, meconium aspiration, sepsis, congenital pneumonia, birth asphyxia and respiratory distress syndrome...
August 10, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28923014/scn8a-mutations-in-chinese-patients-with-early-onset-epileptic-encephalopathy-and-benign-infantile-seizures
#4
Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen, Shujie Yu
BACKGROUND: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations. METHODS: To identify the pathogenic gene of a Chinese family, in which six members suffered from epilepsy, whole-exome sequencing was performed. In addition, target next-generation sequencing (NGS) was performed on 178 sporadic patients, who had epilepsy of unknown etiology within 6 months after birth...
September 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28915908/advances-in-paediatrics-in-2016-current-practices-and-challenges-in-allergy-autoimmune-diseases-cardiology-endocrinology-gastroenterology-infectious-diseases-neonatology-nephrology-neurology-nutrition-pulmonology
#5
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, Sergio Bernasconi
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28914269/looking-beyond-the-exome-a-phenotype-first-approach-to-molecular-diagnostic-resolution-in-rare-and-undiagnosed-diseases
#6
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, Rebecca C Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, Jennifer A Sullivan, Allyn McConkie-Rosell, Sujay Kansagra, Edward C Smith, Mays El-Dairi, Jane Bellet, Martha Ann Keels, Joan Jasien, Peter G Kranz, Richard Noel, Shashi K Nagaraj, Robert K Lark, Daniel S G Wechsler, Daniela Del Gaudio, Marco L Leung, Laura G Hendon, Collette C Parker, Kelly L Jones, David B Goldstein, Vandana Shashi
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software...
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28913298/the-unnecessity-of-positron-emission-tomography-computed-tomography-in-the-etiologic-evaluation-of-neurodevelopmental-delay-in-craniosynostosis-patients
#7
Chae Eun Yang, Eun Kyung Park, Myung Chul Lee, Kyu Won Shim, Yong Oock Kim
BACKGROUND: In evaluation of craniosynostosis patients in terms of neurodevelopmental delay, positron emission tomography computed tomography (PET-CT) scan can be used to assess brain abnormalities through glucose metabolism. We aimed to determine the unnecessity of PET-CT in this study. METHODS: Thirty-eight patients diagnosed with craniosynostosis who underwent distraction osteogenesis from October, 2010 to November, 2013 were reviewed. Magnetic resonance imaging (MRI) and PET-CT scan were carried out for evaluation of the brain structure and function, whereas X-ray and CT scan were taken for evaluation of the skull...
March 2017: Arch Craniofac Surg
https://www.readbyqxmd.com/read/28911050/motor-abnormalities-from-neurodevelopmental-to-neurodegenerative-through-functional-neuro-psychiatric-disorders
#8
Victor Peralta, Manuel J Cuesta
Background: Motor abnormalities (MAs) of severe mental disorders have been traditionally neglected both in clinical practice and research, although they are an increasing focus of attention because of their clinical and neurobiological relevance. For historical reasons, most of the literature on MAs has been focused to a great extent on schizophrenia, and as a consequence their prevalence and featural properties in other psychiatric or neuropsychiatric disorders are poorly known. In this article, we evaluated the extent to which catatonic, extrapyramidal and neurological soft signs, and their associated clinical features, are present transdiagnostically...
September 1, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28910526/genetic-rodent-models-of-brain-disorders-perspectives-on-experimental-approaches-and-therapeutic-strategies
#9
Christopher M McGraw, Christopher S Ward, Rodney C Samaco
Neurobehavioral disorders comprised of neurodegenerative, neurodevelopmental, and psychiatric disorders together represent leading causes of morbidity and mortality. Despite significant academic research and industry efforts to elucidate the disease mechanisms operative in these disorders and to develop mechanism-based therapies, our understanding remains incomplete and our access to tractable therapeutic interventions severely limited. The magnitude of these short-comings can be measured by the growing list of disappointing clinical trials based on initially promising compounds identified in genetic animal models...
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28901728/gaba-type-a-receptor-trafficking-and-the-architecture-of-synaptic-inhibition
#10
REVIEW
Joshua M Lorenz-Guertin, Tija C Jacob
Ubiquitous expression of GABA type A receptors (GABAA R) in the central nervous system establishes their central role in coordinating most aspects of neural function and development. Dysregulation of GABAergic neurotransmission manifests in a number of human health disorders and conditions that in certain cases can be alleviated by drugs targeting these receptors. Precise changes in the quantity or activity of GABAA Rs localized at the cell surface and at GABAergic postsynaptic sites directly impact the strength of inhibition...
September 13, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/28899917/activity-dependent-dysfunction-in-visual-and-olfactory-sensory-systems-in-mouse-models-of-down-syndrome
#11
Christopher M William, Lubna Saqran, Matthew A Stern, Charles L Chiang, Scott Herrick, Aziz Rangwala, Mark W Albers, Matthew P Frosch, Bradley T Hyman
Activity-dependent synaptic plasticity plays a critical role in the refinement of circuitry during postnatal development and may be disrupted in conditions that cause intellectual disability such as Down syndrome (DS). To test this hypothesis, visual cortical plasticity was assessed in Ts65Dn mice that harbor a chromosomal duplication syntenic to human chromosome 21q. We find that Ts65Dn mice demonstrate a defect in ocular dominance plasticity (ODP) following monocular deprivation. This phenotype is similar to that of transgenic mice that express amyloid precursor protein (APP), which is duplicated in DS and in Ts65DN mice; however, normalizing APP gene copy number in Ts65Dn mice fails to rescue plasticity...
September 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28899717/early-patterns-of-activity-in-the-developing-cortex-focus-on-the-sensorimotor-system
#12
REVIEW
Roustem Khazipov, Mathieu Milh
Early development of somatotopic cortical maps occurs during the fetal period in humans and during the postnatal period in rodents. During this period, the sensorimotor cortex expresses transient patterns of correlated neuronal activity including delta waves, gamma- and spindle-burst oscillations. These early activity patterns are largely driven by the thalamus and triggered, in a topographic manner, by sensory feedback resulting from spontaneous movements. Early cortical activities are instrumental for competitive interactions between sensory inputs for the cortical territories, they prevent cortical neurons from apoptosis and their alteration may lead to disturbances in cortical network development in a number of neurodevelopmental diseases...
September 9, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28892570/dnajc12-and-dopa-responsive-non-progressive-parkinsonism
#13
Letizia Straniero, Ilaria Guella, Roberto Cilia, Laura Parkkinen, Valeria Rimoldi, Alexander Young, Rosanna Asselta, Giulia Soldà, Vesna Sossi, A Jon Stoessl, Alberto Priori, Kenya Nishioka, Nobutaka Hattori, Jordan Follett, Alex Rajput, Nenad Blau, Gianni Pezzoli, Matthew J Farrer, Stefano Goldwurm, Ali H Rajput, Stefano Duga
Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63*and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild non-progressive, motor symptoms, sustained benefit from small dose of levodopa and substantial worsening of symptoms after levodopa discontinuation. Neuropathology (Proband-A) revealed no alpha-synuclein pathology and substantia nigra depigmentation with moderate cell loss DNAJC12 transcripts were reduced in both patients...
September 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28889270/uranium-and-the-central-nervous-system-what-should-we-learn-from-recent-new-tools-and-findings
#14
Céline Dinocourt
Increasing industrial and military use of uranium has led to environmental pollution, which may result in uranium reaching the brain and causing cerebral dysfunction. A recent literature review has discussed data published over the last 10 years on uranium and its effects on brain function (Dinocourt C, Legrand M, Dublineau I, et al., Toxicology 337:58-71, 2015). New models of uranium exposure during neonatal brain development and the emergence of new technologies (omics and epigenetics) are of value in identifying new specific targets of uranium...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28887151/altered-synaptobrevin-ii-trafficking-in-neurons-expressing-a-synaptophysin-mutation-associated-with-a-severe-neurodevelopmental-disorder
#15
Callista B Harper, Grazia M S Mancini, Marjon van Slegtenhorst, Michael A Cousin
Following exocytosis, synaptic vesicles (SVs) have to be reformed with the correct complement of proteins in the correct stoichiometry to ensure continued neurotransmission. Synaptophysin is a highly abundant, integral SV protein necessary for the efficient retrieval of the SV SNARE protein, synaptobrevin II (sybII). However the molecular mechanism underpinning synaptophysin-dependent sybII retrieval is still unclear. We recently identified a male patient with severe intellectual disability, hypotonia, epilepsy and callosal agenesis who has a point mutation in the juxtamembrane region of the fourth transmembrane domain of synaptophysin (T198I)...
September 5, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28886358/open-sesame-open-chromatin-regions-shed-light-onto-non-coding-risk-variants
#16
Kun Yang, Akira Sawa
Human genetics and stem cell biology have advanced neurobiology for neurodevelopmental psychiatric disorders. In this issue of Cell Stem Cell, Forrest et al. (2017) demonstrate that studying the landscape of open chromatin regions in stem cell-derived neurons helps functional interpretation of non-coding genetic variants associated with these diseases.
September 7, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28886007/microglia-emerge-as-central-players-in-brain-disease
#17
REVIEW
Michael W Salter, Beth Stevens
There has been an explosion of new findings recently giving us insights into the involvement of microglia in central nervous system (CNS) disorders. A host of new molecular tools and mouse models of disease are increasingly implicating this enigmatic type of nervous system cell as a key player in conditions ranging from neurodevelopmental disorders such as autism to neurodegenerative disorders such as Alzheimer's disease and chronic pain. Contemporaneously, diverse roles are emerging for microglia in the healthy brain, from sculpting developing neuronal circuits to guiding learning-associated plasticity...
September 8, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28884727/-disturbance-of-oligodendrocyte-differentiation-in-schizophrenia-in-relation-to-main-hypothesis-of-the-disease
#18
N S Kolomeets
Increasing evidence coming from neuroimaging, molecular genetic and post-mortem studies have implicated oligodendrocyte abnormalities and compromised myelin integrity in schizophrenia. Activity-dependent myelination in adult brain is considered to be an important mechanism of neural circuit's plasticity due to the presence of a large population of oligodendrocyte progenitor cells (OPC) in the adult CNS. Growing evidence for impairment of oligodendrocyte differentiation has been reported in the brain of schizophrenia subjects...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28883876/metabolic-screening-in-children-with-neurodevelopmental-delay-seizure-and-or-regression
#19
Parvaneh Karimzadeh, Mohammad Mahdi Taghdiri, Ezatollah Abasi, Masoud Hassanvand Amouzadeh, Zhila Naghavi, Ahad Ghazavi, Mohammad Mahdi Nasehi, Abbas Alipour
OBJECTIVE: Neurometabolic disorder is one of the important groups of diseases that prominently has presentation early infantile period. In this study, we evaluated the result of metabolic screening of the patient with seizure, developmental delay and/or regression in development, demographic disease clinical and radiological findings on admitted and outpatient visited children. MATERIALS & METHODS: Two-year retrospective review of 187 children with seizure, developmental delay and/or regression in the Mofid Children Hospital, Tehran, Iran was performed...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28882004/when-loss-of-function-is-loss-of-function-assessing-mutational-signatures-and-impact-of-loss-of-function-genetic-variants
#20
Kymberleigh A Pagel, Vikas Pejaver, Guan Ning Lin, Hyun-Jun Nam, Matthew Mort, David N Cooper, Jonathan Sebat, Lilia M Iakoucheva, Sean D Mooney, Predrag Radivojac
Motivation: Loss-of-function genetic variants are frequently associated with severe clinical phenotypes, yet many are present in the genomes of healthy individuals. The available methods to assess the impact of these variants rely primarily upon evolutionary conservation with little to no consideration of the structural and functional implications for the protein. They further do not provide information to the user regarding specific molecular alterations potentially causative of disease...
July 15, 2017: Bioinformatics
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