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Neurodevelopmental diseases

Adam W Bartlett, Ben Smith, C R Robert George, Brendan McMullan, Alison Kesson, Monica M Lahra, Dip Paed, Pamela Palasanthiran
BACKGROUND: Group B Streptococcus (GBS) is a recognized cause of sepsis and meningitis, particularly in infants. Early onset (<7 days) GBS disease has been well characterized, whereas the epidemiology of late onset disease (LOD, 7-89 days) and very late onset disease (VLOD, ≥90 days) is less well understood. The aims of this study were to assess risk factors, presentation, management, and outcome for GBS LOD and VLOD. METHODS: Microbiology laboratory databases and hospital diagnostic coding for Sydney Children's Hospital and the Children's Hospital at Westmead were investigated for patients ≥ 7 days of age diagnosed with GBS bloodstream infection or meningitis from 1st January 2000 to 31st December 2014 (15 years)...
October 3, 2016: Pediatric Infectious Disease Journal
Keith M Godfrey, Rebecca M Reynolds, Susan L Prescott, Moffat Nyirenda, Vincent W V Jaddoe, Johan G Eriksson, Birit F P Broekman
In addition to immediate implications for pregnancy complications, increasing evidence implicates maternal obesity as a major determinant of offspring health during childhood and later adult life. Observational studies provide evidence for effects of maternal obesity on her offspring's risks of obesity, coronary heart disease, stroke, type 2 diabetes, and asthma. Maternal obesity could also lead to poorer cognitive performance and increased risk of neurodevelopmental disorders, including cerebral palsy. Preliminary evidence suggests potential implications for immune and infectious-disease-related outcomes...
October 10, 2016: Lancet Diabetes & Endocrinology
L I Schmitt, M M Halassa
While localizing sensory and motor deficits is one of the cornerstones of clinical neurology, behavioral and cognitive deficits in psychiatry remain impervious to this approach. In psychiatry, major challenges include the relative subtlety by which neural circuits are perturbed, and the limited understanding of how basic circuit functions relate to thought and behavior. Neurodevelopmental disorders offer a window to addressing the first challenge given their strong genetic underpinnings, which can be linked to biological mechanisms...
October 11, 2016: Molecular Psychiatry
P H Lee, J T Baker, A J Holmes, N Jahanshad, T Ge, J-Y Jung, Y Cruz, D S Manoach, D P Hibar, J Faskowitz, K L McMahon, G I de Zubicaray, N H Martin, M J Wright, D Öngür, R Buckner, J Roffman, P M Thompson, J W Smoller
Schizophrenia is a devastating neurodevelopmental disorder with a complex genetic etiology. Widespread cortical gray matter loss has been observed in patients and prodromal samples. However, it remains unresolved whether schizophrenia-associated cortical structure variations arise due to disease etiology or secondary to the illness. Here we address this question using a partitioning-based heritability analysis of genome-wide single-nucleotide polymorphism (SNP) and neuroimaging data from 1750 healthy individuals...
October 11, 2016: Molecular Psychiatry
Thomas Harder, Cornelius Remschmidt, Sebastian Haller, Tim Eckmanns, Ole Wichmann
BACKGROUND: Given limited resources and time constraints, the use of existing systematic reviews (SR) for the development of evidence-based public health recommendations has become increasingly important. Recently, a five-step approach for identifying, analyzing, appraising and using existing SRs based on recent guidance by the US Agency for Healthcare Research and Quality (AHRQ) was proposed within the Project on a Framework for Rating Evidence in Public Health (PRECEPT). However, case studies are needed to test whether this approach is useful, what challenges arise and how problems can be solved...
October 11, 2016: Systematic Reviews
Mindl M Messinger, Kimberly L Dinh, Erin J McDade, Brady S Moffett, Angus A Wilfong, Antonio G Cabrera
BACKGROUND: Advances in cardiac operations over the last few decades, including corrective operations in early life, have dramatically increased the survival of children with congenital heart disease. However, postoperative care has been associated with neurologic complications, with seizures being the most common manifestation. The primary objective of this study is to describe the outcomes in pediatric patients who received an antiepileptic drug (AED) post-cardiac surgery. METHOD: A retrospective cohort study was performed in all patients less than 18 years of age who received an AED in the cardiovascular intensive care unit at Texas Children's Hospital from June 2002 until June 2012...
July 2016: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
Bjoern O Schroeder, Fredrik Bäckhed
The ecosystem of the human gut consists of trillions of bacteria forming a bioreactor that is fueled by dietary macronutrients to produce bioactive compounds. These microbiota-derived metabolites signal to distant organs in the body, which enables the gut bacteria to connect to the immune and hormone system, to the brain (the gut-brain axis) and to host metabolism, as well as other functions of the host. This microbe-host communication is essential to maintain vital functions of the healthy host. Recently, however, the gut microbiota has been associated with a number of diseases, ranging from obesity and inflammatory diseases to behavioral and physiological abnormalities associated with neurodevelopmental disorders...
October 6, 2016: Nature Medicine
Elisa D'Agati, Mariabernarda Pitzianti, Emanuela Balestrieri, Claudia Matteucci, Paola Sinibaldi Vallebona, Augusto Pasini
Human endogenous retroviruses (HERVs) have been associated with many complex diseases including neuropsychiatric diseases, such as attention deficit hyperactivity disorder (ADHD). In ADHD an over-expression of HERV-H family in peripheral blood mononuclear cells has been documented. It has been hypothesized that HERVs may represent the link between genetic and environmental risk factors, contributing to the clinical onset and/or to the progression of the neurodevelopmental disease. The effect of pharmacological treatment on HERV transcriptional activity in psychiatric disorders has been attracting attention...
July 2016: New Microbiologica
Yi-Sian Lin, Han-Ying Wang, De-Fong Huang, Pei-Fen Hsieh, Meng-Ying Lin, Chih-Hsuan Chou, I-Ju Wu, Guo-Jen Huang, Susan Shur-Fen Gau, Hsien-Sung Huang
Dysfunction of RBFOX3 has been identified in neurodevelopmental disorders such as autism spectrum disorder, cognitive impairments and epilepsy and a causal relationship with these diseases has been previously demonstrated with Rbfox3 homozygous knockout mice. Despite the importance of RBFOX3 during neurodevelopment, the function of RBFOX3 regarding neurogenesis and synaptogenesis remains unclear. To address this critical question, we profiled the developmental expression pattern of Rbfox3 in the brain of wild-type mice and analyzed brain volume, disease-relevant behaviors, neurogenesis, synaptic plasticity, and synaptogenesis in Rbfox3 homozygous knockout mice and their corresponding wild-type counterparts...
2016: PloS One
Clara D M van Karnebeek, Kristin Bowden, Elizabeth Berry-Kravis
BACKGROUND: Neurogenetic developmental conditions represent a heterogeneous group of rare inherited disorders with neurological manifestation during development. Treatments for these conditions have largely been supportive; however, a number of treatments are emerging which target the underlying physiology and offer great potential. Our aim was to present a state-of-the-art overview of the current and potential causal treatments available or under development for neurogenetic developmental conditions...
July 26, 2016: Pediatric Neurology
Saleh A Bakheet, Mohammad Zeed Alzahrani, Ahmed Nadeem, Mushtaq Ahmad Ansari, Khairy M A Zoheir, Sabry M Attia, Laila Yousef Al-Ayadhi, Sheikh Fayaz Ahmad
Autism is a neurodevelopmental disorder categorized by qualitative impairments in social interaction, communication, and repetitive stereotypic behavior. Emerging evidence increasingly suggests that chemokine receptors have a pivotal role in the central nervous system and are involved in the pathogenesis of numerous neuroinflammatory diseases. Resveratrol is widely used to treat neurodegenerative diseases, but its effect on autism has not been investigated. We investigated the effect of resveratrol (20 and 40mg/kg) in the spleen and brain tissues of BTBR T+tf/J (BTBR) and C57BL/6J (B6) mice as well as on the C-C chemokine receptor (CCR) and C-X-C motif chemokine receptor (CXCR) (CCR3(+), CCR5(+), CCR7(+) and CCR9(+), CXCR3(+) and CXCR5(+)) in cluster of differentiation 4-positive (CD4(+)) T cells in the spleen...
September 29, 2016: Molecular and Cellular Neurosciences
Theodore C Pierson, Barney S Graham
The emergence of Zika virus in the Americas and Caribbean created an urgent need for vaccines to reduce transmission and prevent disease, particularly the devastating neurodevelopmental defects that occur in utero. Rapid advances in Zika immunity and the development of vaccine candidates provide cautious optimism that preventive measures are possible.
September 28, 2016: Cell
Vandana Shashi, Loren D M Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M McLaughlin, Megan Cho, Nicholas Stong, Scott E Hickey, Christine M Shuss, Michael S Freemark, Jane S Bellet, Martha Ann Keels, Melanie J Bonner, Maysantoine El-Dairi, Megan Butler, Peter G Kranz, Constance T R M Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, Rene Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietilainen, Palotie Aarno, Mitja I Kurki, Alexander Hoischen, Anna C Need, David B Goldstein, Fanny Kortüm
The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe intellectual disability and dysmorphic features. ASXL2 has not yet been associated with a human Mendelian disorder...
October 6, 2016: American Journal of Human Genetics
Johanna Calderon, Christian Stopp, David Wypij, David R DeMaso, Michael Rivkin, Jane W Newburger, David C Bellinger
OBJECTIVES: To investigate the long-term impact of early-term birth (37-38 weeks' gestation) relative to full-term birth (≥39 weeks' gestation) on neurodevelopmental and psychiatric outcomes in adolescents with single-ventricle congenital heart disease (CHD). STUDY DESIGN: This cross-sectional cohort study analyzed retrospective medical records from full term adolescents with single-ventricle CHD who underwent the Fontan procedure. Participants underwent neurodevelopmental and psychiatric evaluations, as well as structural brain magnetic resonance imaging...
September 27, 2016: Journal of Pediatrics
M Hamza, S Halayem, R Mrad, S Bourgou, F Charfi, A Belhadj
BACKGROUND: The etiology of autism spectrum disorders (ASD) is complex and multifactorial, and the roles of genetic and environmental factors in its emergence have been well documented. Current research tends to indicate that these two factors act in a synergistic manner. The processes underlying this interaction are still poorly known, but epigenetic modifications could be the mediator in the gene/environment interface. The epigenetic mechanisms have been implicated in susceptibility to stress and also in the pathogenesis of psychiatric disorders including depression and schizophrenia...
September 27, 2016: L'Encéphale
Marina A Pavlova
As the most fascinating, complex, and dynamic part of our organism, the human brain is shaped by many interacting factors that not only are of neurobiological (including sex hormones) and environmental origin but are also sociocultural in their very nature (such as social roles). Gender is one of these factors. Most neurological, neurodevelopmental, neuropsychiatric, and psychosomatic disorders are characterized by impairments in visual social cognition (primarily body language reading and face perception) and a skewed sex ratio: females and males are affected differently in terms of clinical picture, prevalence, and severity...
September 26, 2016: Journal of Neuroscience Research
Y Kawano, J Kawada, Y Kamiya, M Suzuki, Y Torii, H Kimura, Y Ito
OBJECTIVE: Cytomegalovirus (CMV) is the most common cause of congenital infection and can cause neurodevelopmental disabilities, although a majority of patients are asymptomatic. Biomarkers associated with disease severity would be desirable to distinguish asymptomatic from mildly symptomatic patients who may benefit from antiviral treatment. MicroRNAs (miRNAs) are noncoding RNAs that may have the potential to serve as biomarkers. STUDY DESIGN: Thirteen infants with congenital CMV infection were enrolled, and plasma levels of 11 human- and 3 CMV-encoded miRNAs were quantitated by real-time PCR...
September 29, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
G Pini, S Bigoni, L Congiu, A M Romanelli, M F Scusa, P Di Marco, A Benincasa, P Morescalchi, A Ferlini, F Bianchi, D Tropea, M Zappella
BACKGROUND: Rett Syndrome is a neurodevelopmental disorder almost exclusively affecting females, characterized by a broad clinical spectrum of signs and symptoms and a peculiar course. The disease affects different body systems: nervous, muscolo-skeletal, gastro-enteric. Moreover, part of the symptoms are related to the involvement of the autonomic nervous system. In the Tuscany Rett Center at Versilia Hospital, we collected data from 151 subjects with a clinical diagnosis of classical or variant RTT syndrome...
September 29, 2016: Orphanet Journal of Rare Diseases
Qinghai Peng, Qichang Zhou, Ming Zang, Jiawei Zhou, Ran Xu, Tao Wang, Shi Zeng
OBJECTIVE: To screen and detect cortex gyration in fetuses with congenital heart disease (CHD) using Ultrasonography (US) during routine obstetric scans. METHODS: The depth of the Sylvian fissure (SF), parieto-occipital fissure (POF) and calcarine (CF) fissure were prospectively serially measured and compared in 45 fetuses with CHD and 45 normal fetuses. Cardiac hemodynamic parameters, including aortic valve diameter (AV), pulmonary valve diameter (PV), velocity time integral of the aortic valve (VTIav), and velocity time integral of the pulmonary valve (VTIpv), were recorded...
September 28, 2016: Prenatal Diagnosis
William J Muller
Viral infections in the fetus or newborn often involve the central nervous system (CNS) and can lead to significant morbidity and mortality. Substantial progress has been made in identifying interventions decreasing adverse neurodevelopmental outcomes in this population. This review highlights progress in treatment of important viruses affecting the CNS in these susceptible hosts, focusing on herpes simplex (HSV), cytomegalovirus (CMV), human immunodeficiency virus (HIV), and enteroviruses. The observation that high-dose acyclovir improves mortality in neonatal HSV disease culminated decades of antiviral research for this disease...
September 27, 2016: Pediatric Research
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