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Neurodevelopmental diseases

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https://www.readbyqxmd.com/read/28526506/investigating-the-causes-of-neurodevelopmental-deficits-in-congenital-heart-disease-through-multiple-gestations
#1
EDITORIAL
Ryan R Davies
No abstract text is available yet for this article.
March 19, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28525759/modeling-rett-syndrome-using-talen-edited-mecp2-mutant-cynomolgus-monkeys
#2
Yongchang Chen, Juehua Yu, Yuyu Niu, Dongdong Qin, Hailiang Liu, Gang Li, Yingzhou Hu, Jiaojian Wang, Yi Lu, Yu Kang, Yong Jiang, Kunhua Wu, Siguang Li, Jingkuan Wei, Jing He, Junbang Wang, Xiaojing Liu, Yuping Luo, Chenyang Si, Raoxian Bai, Kunshan Zhang, Jie Liu, Shaoyong Huang, Zhenzhen Chen, Shuang Wang, Xiaoying Chen, Xinhua Bao, Qingping Zhang, Fuxing Li, Rui Geng, Aibin Liang, Dinggang Shen, Tianzi Jiang, Xintian Hu, Yuanye Ma, Weizhi Ji, Yi Eve Sun
Gene-editing technologies have made it feasible to create nonhuman primate models for human genetic disorders. Here, we report detailed genotypes and phenotypes of TALEN-edited MECP2 mutant cynomolgus monkeys serving as a model for a neurodevelopmental disorder, Rett syndrome (RTT), which is caused by loss-of-function mutations in the human MECP2 gene. Male mutant monkeys were embryonic lethal, reiterating that RTT is a disease of females. Through a battery of behavioral analyses, including primate-unique eye-tracking tests, in combination with brain imaging via MRI, we found a series of physiological, behavioral, and structural abnormalities resembling clinical manifestations of RTT...
May 18, 2017: Cell
https://www.readbyqxmd.com/read/28523539/the-role-of-noncoding-rnas-in-neurodevelopmental-disorders-the-case-of-rett-syndrome
#3
Aida Obiols-Guardia, Sònia Guil
Current technologies have demonstrated that only a small fraction of our genes encode for protein products. The vast majority of the human transcriptome corresponds to noncoding RNA (ncRNA) of different size, localization, and expression profile. Despite the fact that a biological function remains yet to be determined for most ncRNAs, growing evidence points to their crucial regulatory roles at all stages in gene expression regulation, including transcriptional and posttranscriptional control, so that proper cell homeostasis seems to depend largely on a variety of ncRNA-mediated regulatory networks...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28513610/haploinsufficiency-of-znf462-is-associated-with-craniofacial-anomalies-corpus-callosum-dysgenesis-ptosis-and-developmental-delay
#4
Karin Weiss, Kristen Wigby, Madeleine Fannemel, Lindsay B Henderson, Natalie Beck, Neeti Ghali, D D D Study, Britt-Marie Anderlid, Johanna Lundin, Ada Hamosh, Marilyn C Jones, Sondhya Ghedia, Maximilian Muenke, Paul Kruszka
The introduction of whole-exome sequencing into the Pediatric Genetics clinic has increased the identification of novel genes associated with neurodevelopmental disorders and congenital anomalies. This agnostic approach has shed light on multiple proteins and pathways not previously known to be associated with disease. Here we report eight subjects from six families with predicted loss of function variants in ZNF462, a zinc-finger protein of unknown function. These individuals have overlapping phenotypes that include ptosis, metopic ridging, craniosynostosis, dysgenesis of the corpus callosum, and developmental delay...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28511778/elevated-cranial-ultrasound-resistive-indices-are-associated-with-improved-neurodevelopmental-outcomes-one-year-after-pediatric-cardiac-surgery-a-single-center-pilot-study
#5
Christopher L Jenks, Ana Hernandez, Peter L Stavinoha, Michael C Morris, Fenghua Tian, Hanli Liu, Parvesh Garg, Joseph M Forbess, Joshua Koch
OBJECTIVE: To determine if a non-invasive, repeatable test can be used to predict neurodevelopmental outcomes in patients with congenital heart disease. METHODS: This was a prospective study of pediatric patients less than two months of age undergoing congenital heart surgery at the Children's Health Children's Medical Center at Dallas. Multichannel near-infrared spectroscopy (NIRS) was utilized during the surgery, and ultrasound (US) resistive indices (RI) of the major cranial vessels were obtained prior to surgery, immediately post-operatively, and prior to discharge...
May 13, 2017: Heart & Lung: the Journal of Critical Care
https://www.readbyqxmd.com/read/28511047/birth-weight-and-postnatal-growth-in-preterm-born-children-are-associated-with-cortisol-in-early-infancy-but-not-at-age-8-years
#6
Charlotte A Ruys, Bibian van der Voorn, Harrie N Lafeber, Monique van de Lagemaat, Joost Rotteveel, Martijn J J Finken
BACKGROUND: Preterm birth has been associated with altered hypothalamic-pituitary-adrenal (HPA-) axis activity as well as cardiometabolic diseases and neurodevelopmental impairments later in life. We assessed cortisol from term age to age 8 y in children born preterm, to explore the development of HPA-axis activity in association with intrauterine and early-postnatal growth until 6 mo. corrected age. METHODS: In 152 children born at a gestational age ≤32 wks. and/or with a birth weight ≤1,500g, random serum cortisol was assessed at term age (n=150), 3 mo...
May 4, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28508149/parkinson-s-disease-associated-mutant-lrrk2-mediated-inhibition-of-mirna-activity-is-antagonized-by-trim32
#7
Laura Gonzalez-Cano, Ingeborg Menzl, Johan Tisserand, Sarah Nicklas, Jens C Schwamborn
Parkinson's disease (PD) is the second most common neurodegenerative disorder. Accumulating evidences suggest that PD might have a strong neurodevelopmental component. Among the genetic cases, mutations in the leucine-rich repeat kinase 2 (LRRK2) are well known to be disease causing. Although the molecular mechanism of the pathogenic LRRK2 function is not fully clear, inhibition of microRNA (miRNA) activity has been suggested to be among the pathogenic LRRK2 targets. Here, we demonstrate that the miRNA activity inhibition function of pathogenic LRRK2 is directly antagonized by the neuronal cell fate determinant TRIM32...
May 15, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28507523/autism-spectrum-disorders-and-schizophrenia-spectrum-disorders-excitation-inhibition-imbalance-and-developmental-trajectories
#8
Roberto Canitano, Mauro Pallagrosi
Autism spectrum disorders (ASD) and schizophrenia spectrum disorders (SSD) share clinical and genetic components that have long been recognized. The two disorders co-occur more frequently than would be predicted by their respective prevalence, suggesting that a complex, multifactor association is involved. However, DSM-5 maintains the distinction between ASD, with core social and communication impairments, and SSD, including schizophrenia (SCZ), with hallucinations, delusions, and thought disorder as essential features...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28507511/distribution-of-elovl4-in-the-developing-and-adult-mouse-brain
#9
David M Sherry, Blake R Hopiavuori, Megan A Stiles, Negar S Rahman, Kathryn G Ozan, Ferenc Deak, Martin-Paul Agbaga, Robert E Anderson
ELOngation of Very Long chain fatty acids (ELOVL)-4 is essential for the synthesis of very long chain-fatty acids (fatty acids with chain lengths ≥ 28 carbons). The functions of ELOVL4 and its very long-chain fatty acid products are poorly understood at present. However, mutations in ELOVL4 cause neurodevelopmental or neurodegenerative diseases that vary according to the mutation and inheritance pattern. Heterozygous inheritance of different ELOVL4 mutations causes Stargardt-like Macular Dystrophy or Spinocerebellar Ataxia type 34...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/28507318/cerebellar-volume-and-cerebellocerebral-structural-covariance-in-schizophrenia-a-multisite-mega-analysis-of-983-patients-and-1349-healthy-controls
#10
T Moberget, N T Doan, D Alnæs, T Kaufmann, A Córdova-Palomera, T V Lagerberg, J Diedrichsen, E Schwarz, M Zink, S Eisenacher, P Kirsch, E G Jönsson, H Fatouros-Bergman, L Flyckt, G Pergola, T Quarto, A Bertolino, D Barch, A Meyer-Lindenberg, I Agartz, O A Andreassen, L T Westlye
Although cerebellar involvement across a wide range of cognitive and neuropsychiatric phenotypes is increasingly being recognized, previous large-scale studies in schizophrenia (SZ) have primarily focused on supratentorial structures. Hence, the across-sample reproducibility, regional distribution, associations with cerebrocortical morphology and effect sizes of cerebellar relative to cerebral morphological differences in SZ are unknown. We addressed these questions in 983 patients with SZ spectrum disorders and 1349 healthy controls (HCs) from 14 international samples, using state-of-the-art image analysis pipelines optimized for both the cerebellum and the cerebrum...
May 16, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28504681/fused-cerebral-organoids-model-interactions-between-brain-regions
#11
Joshua A Bagley, Daniel Reumann, Shan Bian, Julie Lévi-Strauss, Juergen A Knoblich
Human brain development involves complex interactions between different regions, including long-distance neuronal migration or formation of major axonal tracts. Different brain regions can be cultured in vitro within 3D cerebral organoids, but the random arrangement of regional identities limits the reliable analysis of complex phenotypes. Here, we describe a coculture method combining brain regions of choice within one organoid tissue. By fusing organoids of dorsal and ventral forebrain identities, we generate a dorsal-ventral axis...
May 10, 2017: Nature Methods
https://www.readbyqxmd.com/read/28503958/neonatal-management-and-outcome-in-alloimmune-hemolytic-disease
#12
Isabelle M C Ree, Vivianne E H J Smits-Wintjens, Johanna G van der Bom, Jeanine M M van Klink, Dick Oepkes, Enrico Lopriore
Hemolytic disease of the fetus and newborn (HDFN) occurs when fetal and neonatal erythroid cells are destroyed by maternal erythrocyte alloantibodies, it leads to anemia and hydrops in the fetus, and hyperbilirubinemia and kernicterus in the newborn. Postnatal care consists of intensive phototherapy and exchange transfusions to treat severe hyperbilirubinemia and top-up transfusions to treat early and late anemia. Other postnatal complications have been reported such as thrombocytopenia, iron overload and cholestasis requiring specific management...
May 13, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/28503735/wdr45b-related-intellectual-disability-spastic-quadriplegia-epilepsy-and-cerebral-hypoplasia-a-consistent-neurodevelopmental-syndrome
#13
Jehan Suleiman, Diane Allingham-Hawkins, Mais Hashem, Hanan Shamseddin, Fowzan S Alkuraya, Ayman W El-Hattab
The advancement in genomic sequencing has greatly improved the diagnostic yield for neurodevelopmental disorders and led to the discovery of large number of novel genes associated with these disorders. WDR45B has been identified as a potential intellectual disability gene through genomic sequencing of two large cohorts of affected individuals. In this report we present six individuals from three unrelated families with homozygous pathogenic variants in WDR45B: c.799C>T (p.Q267*) in one family and c.673C>T (p...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28503387/rubinstein-taybi-syndrome-associated-with-pituitary-macroadenoma-a-case-report
#14
Yasamin Olyaei, J Manuel Sarmiento, Serguei I Bannykh, Doniel Drazin, Robert T Naruse, Wesley King
Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma associated with RSTS. A 39-year-old Caucasian female with a past medical history of RSTS diagnosed at age two was found to have a gadolinium-enhancing pituitary mass on magnetic resonance imaging (MRI) of the brain three years ago during workup for migraine-like headaches...
April 11, 2017: Curēus
https://www.readbyqxmd.com/read/28500770/the-role-of-melatonin-in-the-neurodevelopmental-etiology-of-schizophrenia-a-study-in-human-olfactory-neuronal-precursors
#15
Tania Galván-Arrieta, Citlali Trueta, Montserrat G Cercós, Marcela Valdés-Tovar, Salvador Alarcón, Julian Oikawa, Horacio Zamudio-Meza, Gloria Benítez-King
Dim light exposure of the mother during pregnancy has been proposed as one of the environmental factors that affect the fetal brain development in schizophrenia. Melatonin circulating levels are regulated by the environmental light/dark cycle. This hormone stimulates neuronal differentiation in the adult brain. However, little is known about its role in the fetal human brain development. Olfactory neuronal precursors (ONPs) are useful for studying the physiopathology of neuropsychiatric diseases because they mimic all the stages of neurodevelopment in culture...
May 13, 2017: Journal of Pineal Research
https://www.readbyqxmd.com/read/28497201/huntington-disease-as-a-neurodevelopmental-disorder-and-early-signs-of-the-disease-in-stem-cells
#16
REVIEW
Kalina Wiatr, Wojciech J Szlachcic, Marta Trzeciak, Marek Figlerowicz, Maciej Figiel
Huntington disease (HD) is a dominantly inherited disorder caused by a CAG expansion mutation in the huntingtin (HTT) gene, which results in the HTT protein that contains an expanded polyglutamine tract. The adult form of HD exhibits a late onset of the fully symptomatic phase. However, there is also a long presymptomatic phase, which has been increasingly investigated and recognized as important for the disease development. Moreover, the juvenile form of HD, evoked by a higher number of CAG repeats, resembles a neurodevelopmental disorder and has recently been the focus of additional interest...
May 11, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28495514/neurobehavioral-risks-of-ssris-in-pregnancy-comparing-human-and-animal-data
#17
REVIEW
Asher Ornoy
During the last twenty years, in spite of extensive literature regarding the use of SSRIs in pregnancy, confusion still exists as to possible long-term risks of these drugs on the offspring. Possible negative effects relate to neurodevelopmental outcome and association with Autism Spectrum Disorder (ASD). Most neurodevelopmental follow up studies did not find significant cognitive impairment except from some apparently transient, gross motor delay and slight impairment of language abilities. The literature on the possible association of SSRIs with ASD is inconsistent, and if an association exists it is apparently throughout pregnancy...
May 8, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28493104/hypomyelinating-leukodystrophy-associated-with-a-deleterious-mutation-in-the-atrn-gene
#18
Maher Awni Shahrour, Motee Ashhab, Simon Edvardson, Michal Gur, Bassam Abu-Libdeh, Orly Elpeleg
Hypomyelinating leukodystrophies are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by developmental delay, hypotonia, spasticity, and variable intellectual disability. We used whole exome analysis to study the molecular basis of hypomyelinating leukodystrophy in two sibs from a consanguineous family. A homozygous mutation, c.3068+5G>A, was identified in the ATRN gene, with the consequent insertion of an intronic sequence into the patients' cDNA and a predicted premature termination of the ATRN polypeptide...
May 10, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28493018/emerging-role-of-mirna-in-attention-deficit-hyperactivity-disorder-a-systematic-review
#19
REVIEW
Saurabh Srivastav, Susanne Walitza, Edna Grünblatt
Attention deficit hyperactivity disorder (ADHD) is a neuropsychiatric disorder whose aetiology still remains elusive. Nevertheless, evidence supports a high genetic contribution that interacts with environmental factors, also known to modulate epigenetic processes. These epigenetic modulators are a class of non-coding RNAs, microRNAs (miRNAs), known as post-transcriptional regulators, which have emerged as prospective players in neuropsychiatric disorders since they play a role in brain development, synapse formation, and the fine-tuning of genes underlying synaptic and memory formation...
May 10, 2017: Attention Deficit and Hyperactivity Disorders
https://www.readbyqxmd.com/read/28480548/expanding-the-phenotypic-spectrum-of-truncating-pogz-mutations-association-with-cns-malformations-skeletal-abnormalities-and-distinctive-facial-dysmorphism
#20
Maria Lisa Dentici, Marcello Niceta, Francesca Pantaleoni, Sabina Barresi, Paola Bencivenga, Bruno Dallapiccola, Maria Cristina Digilio, Marco Tartaglia
Exome sequencing has led to the comprehension of the molecular bases of several forms of neurodevelopmental disorders, a clinically heterogeneous group of diseases characterized by intellectual disability (ID) and autism spectrum disorder (ASD). De novo mutations in POGZ has been causally linked to isolated ASD and syndromic ID, only recently. Here we report on a 15 year-old girl in whom exome sequencing allowed to identify a de novo POGZ truncating mutation as the molecular cause underlying a complex phenotype apparently not fitting any recognized syndrome...
May 7, 2017: American Journal of Medical Genetics. Part A
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