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Neurodevelopmental diseases

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https://www.readbyqxmd.com/read/28644831/inflammatory-and-vascular-placental-lesions-are-associated-with-neonatal-amplitude-integrated-eeg-recording-in-early-premature-neonates
#1
Dorit Paz-Levy, Letizia Schreiber, Offer Erez, Sharon Goshen, Justin Richardson, VIadimir Drunov, Orna Staretz Chacham, Eilon Shany
INTRODUCTION: Placental histologic examination can assist in revealing the mechanism leading to preterm birth. Accumulating evidence suggests an association between intrauterine pathological processes, morbidity and mortality of premature infants, and their long term outcome. Neonatal brain activity is increasingly monitored in neonatal intensive care units by amplitude integrated EEG (aEEG) and indices of background activity and sleep cycling patterns were correlated with long term outcome...
2017: PloS One
https://www.readbyqxmd.com/read/28641757/long-term-follow-up-of-congenital-diaphragmatic-hernia
#2
Laura E Hollinger, Matthew T Harting, Kevin P Lally
Increased survival of patients with congenital diaphragmatic hernia has created a unique cohort of children, adolescent, and adult survivors with complex medical and surgical needs. Disease-specific morbidities offer the opportunity for multiple disciplines to unite together to provide long-term comprehensive follow-up, as well as an opportunity for research regarding late outcomes. These children can exhibit impaired pulmonary function, altered neurodevelopmental outcomes, nutritional insufficiency, musculoskeletal changes, and specialized surgical needs that benefit from regular monitoring and intervention, particularly in patients with increased disease severity...
June 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28640803/brain-network-eigenmodes-provide-a-robust-and-compact-representation-of-the-structural-connectome-in-health-and-disease
#3
Maxwell B Wang, Julia P Owen, Pratik Mukherjee, Ashish Raj
Recent research has demonstrated the use of the structural connectome as a powerful tool to characterize the network architecture of the brain and potentially generate biomarkers for neurologic and psychiatric disorders. In particular, the anatomic embedding of the edges of the cerebral graph have been postulated to elucidate the relative importance of white matter tracts to the overall network connectivity, explaining the varying effects of localized white matter pathology on cognition and behavior. Here, we demonstrate the use of a linear diffusion model to quantify the impact of these perturbations on brain connectivity...
June 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28637735/development-of-the-tailored-rett-intervention-and-assessment-longitudinal-trial-database-and-the-rett-evaluation-of-symptoms-and-treatments-rest-questionnaire
#4
Paramala Santosh, Kate Lievesley, Federico Fiori, Jatinder Singh
INTRODUCTION: Rett syndrome (RTT) is a pervasive neurodevelopmental disorder that presents with deficits in brain functioning leading to language and learning regression, characteristic hand stereotypies and developmental delay. Different mutations in the gene implicated in RTT-methyl-CpG-binding protein 2 (MECP2) establishes RTT as a disorder with divergent symptomatology ranging from individuals with severe to milder phenotypes. A reliable and single multidimensional questionnaire is needed that can embrace all symptoms, and the relationships between them, and can map clinically meaningful data to symptomatology across the lifespan in patients with RTT...
June 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/28635106/long-noncoding-rna-and-its-contribution-to-autism-spectrum-disorders
#5
REVIEW
Jie Tang, Yizhen Yu, Wei Yang
Recent studies have indicated that long noncoding RNAs (lncRNAs) play important roles in multiple processes, such as epigenetic regulation, gene expression regulation, development, nutrition-related and other diseases, toxic response, and response to drugs. Although the functional roles and mechanisms of several lncRNAs have been discovered, a better understanding of the vast majority of lncRNAs remains elusive. To understand the functional roles and mechanisms of lncRNAs is critical because these transcripts represent the majority of the transcriptional output of the mammalian genome...
June 20, 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28634598/previously-unrecognized-behavioral-phenotype-in-gaucher-disease-type-3
#6
Magy Abdelwahab, Michael Potegal, Elsa G Shapiro, Igor Nestrasil
OBJECTIVE: To provide a comprehensive description of abnormal behaviors in patients with Gaucher disease type 3 (GD3) and relate these behaviors to demographic, neurodevelopmental, and neurologic characteristics. METHODS: Thirty-four Egyptian patients with GD3 (mean age of 7.9 years) were enrolled in the study. They were selected based on parent report and/or physician observation of one or more abnormal behaviors documented in 2 settings and by 2 different individuals and/or by video recording...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28631193/current-concepts-of-memory-disorder-in-epilepsy-edging-towards-a-network-account
#7
REVIEW
Genevieve Rayner, Chris Tailby
PURPOSE OF REVIEW: A paradigm shift in contemporary epileptology has been the reframing of both epilepsy and its comorbid memory disorders as the product of diseased brain networks. The current review discusses some of the clinical and theoretical implications that stem from this shift. RECENT FINDINGS: Some implications of a network conceptualisation of epilepsy include a need for more widespread cognitive phenotyping in epilepsy; recognition that memory disorders in epilepsy can be multi-determined, including by non-structural factors; deeper consideration given to the neurodevelopmental context in which memory problems emerge; the utility of new methods to characterise memory impairments in epilepsy; and a call for greater recognition of the close interrelationships between memory comorbidities and psychiatric symptoms in epilepsy...
August 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28629487/learning-and-memory-in-adolescents-with-critical-biventricular-congenital-heart-disease
#8
Adam R Cassidy, Jane W Newburger, David C Bellinger
OBJECTIVES: Although evidence exists of broadly defined memory impairment among adolescents with critical congenital heart disease (CHD), nuanced investigations of declarative memory in this at-risk population have not been conducted. This study had two primary aims: (1) to conduct a fine-grained analysis of a range of relevant learning and memory processes in adolescents with critical biventricular CHD, and (2) to identify risk, odds, and predictors of memory impairment. METHODS: Data were combined from two single-center studies of neurodevelopmental outcomes in critical CHD...
June 20, 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28626083/cellular-and-disease-functions-of-the-prader-willi-syndrome-gene-magel2
#9
REVIEW
Klementina Fon Tacer, Patrick Ryan Potts
Melanoma antigen L2 (MAGEL2 or MAGE-L2) is a member of the MAGE family of ubiquitin ligase regulators. It is maternally imprinted and often paternally deleted or mutated in the related neurodevelopmental syndromes, Prader-Willi Syndrome (PWS) and Schaaf-Yang Syndrome (SHFYNG). MAGEL2 is highly expressed in the hypothalamus and plays an important role in a fundamental cellular process that recycles membrane proteins from endosomes through the retromer sorting pathway. MAGEL2 is part of a multi-subunit protein complex consisting of MAGEL2, the TRIM27 E3 ubiquitin ligase, and the USP7 deubiquitinating enzyme...
June 16, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28626029/a-homozygous-founder-mutation-in-trappc6b-associates-with-a-neurodevelopmental-disorder-characterised-by-microcephaly-epilepsy-and-autistic-features
#10
Isaac Marin-Valencia, Gaia Novarino, Anide Johansen, Basak Rosti, Mahmoud Y Issa, Damir Musaev, Gifty Bhat, Eric Scott, Jennifer L Silhavy, Valentina Stanley, Rasim O Rosti, Jeremy W Gleeson, Farhad B Imam, Maha S Zaki, Joseph G Gleeson
BACKGROUND: Transport protein particle (TRAPP) is a multisubunit complex that regulates membrane trafficking through the Golgi apparatus. The clinical phenotype associated with mutations in various TRAPP subunits has allowed elucidation of their functions in specific tissues. The role of some subunits in human disease, however, has not been fully established, and their functions remain uncertain. OBJECTIVE: We aimed to expand the range of neurodevelopmental disorders associated with mutations in TRAPP subunits by exome sequencing of consanguineous families...
June 16, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#11
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
June 14, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28620275/genome-wide-target-analyses-of-otx2-homeoprotein-in-postnatal-cortex
#12
Akiko Sakai, Ryuichiro Nakato, Yiwei Ling, Xubin Hou, Norikazu Hara, Tomoya Iijima, Yuchio Yanagawa, Ryozo Kuwano, Shujiro Okuda, Katsuhiko Shirahige, Sayaka Sugiyama
Juvenile brain has a unique time window, or critical period, in which neuronal circuits are remodeled by experience. Mounting evidence indicates the importance of neuronal circuit rewiring in various neurodevelopmental disorders of human cognition. We previously showed that Otx2 homeoprotein, essential for brain formation, is recaptured during postnatal maturation of parvalbumin-positive interneurons (PV cells) to activate the critical period in mouse visual cortex. Cortical Otx2 is the only interneuron-enriched transcription factor known to regulate the critical period, but its downstream targets remain unknown...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28618077/generation-of-a-microglial-developmental-index-in-mice-and-in-humans-reveals-a-sex-difference-in-maturation-and-immune-reactivity
#13
Richa Hanamsagar, Mark D Alter, Carina S Block, Haley Sullivan, Jessica L Bolton, Staci D Bilbo
Evidence suggests many neurological disorders emerge when normal neurodevelopmental trajectories are disrupted, i.e., when circuits or cells do not reach their fully mature state. Microglia play a critical role in normal neurodevelopment and are hypothesized to contribute to brain disease. We used whole transcriptome profiling with Next Generation sequencing of purified developing microglia to identify a microglial developmental gene expression program involving thousands of genes whose expression levels change monotonically (up or down) across development...
June 15, 2017: Glia
https://www.readbyqxmd.com/read/28611932/physiotherapy-in-parkinson-s-disease-building-parkinsonnet-in-czechia
#14
Ota Gal, Martin Srp, Romana Konvalinkova, Martina Hoskovcova, Vaclav Capek, Jan Roth, Evzen Ruzicka
OBJECTIVE: We conducted a questionnaire survey to investigate the availability and quality of physiotherapy (PT) for Parkinson's disease (PD). BACKGROUND: Despite evidence about the benefits of PT, there is no data regarding its use in Czechia. METHODS: Questionnaires were sent to 368 PD patients seen in a single movement disorders centre within two years (inclusion criteria: idiopathic PD, Hoehn and Yahr stage <5, and residence in Prague) and to 211 physical therapists (PTs) registered in Prague...
2017: Parkinson's Disease
https://www.readbyqxmd.com/read/28611610/music-games-potential-application-and-considerations-for-rhythmic-training
#15
REVIEW
Valentin B├ęgel, Ines Di Loreto, Antoine Seilles, Simone Dalla Bella
Rhythmic skills are natural and widespread in the general population. The majority can track the beat of music and move along with it. These abilities are meaningful from a cognitive standpoint given their tight links with prominent motor and cognitive functions such as language and memory. When rhythmic skills are challenged by brain damage or neurodevelopmental disorders, remediation strategies based on rhythm can be considered. For example, rhythmic training can be used to improve motor performance (e.g...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28608518/liver-transplantation-may-prevent-neurodevelopmental-deterioration-in-high-risk-patients-with-urea-cycle-disorders
#16
Jun Kido, Shirou Matsumoto, Ken Momosaki, Rieko Sakamoto, Hiroshi Mitsubuchi, Fumio Endo, Kimitoshi Nakamura
UCDs are among the most common inherited metabolic diseases in Japan. We investigated the clinical manifestations, treatment, and prognoses of 177 patients with UCDs who were evaluated and treated from January 1999 to March 2009 in Japan, using a questionnaire survey. Among these 177 patients, 42 (seven with carbamoyl phosphate synthetase 1 deficiency, 27 with ornithine transcarbamylase deficiency, seven with argininosuccinate synthetase deficiency, and one with arginase 1 deficiency) underwent living-donor LT...
June 12, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28608171/genetic-approaches-to-understanding-psychiatric-disease
#17
REVIEW
Jacob J Michaelson
Human genetic studies have been the driving force in bringing to light the underlying biology of psychiatric conditions. As these studies fill in the gaps in our knowledge of the mechanisms at play, we will be better equipped to design therapies in rational and targeted ways, or repurpose existing therapies in previously unanticipated ways. This review is intended for those unfamiliar with psychiatric genetics as a field and provides a primer on different modes of genetic variation, the technologies currently used to probe them, and concepts that provide context for interpreting the gene-phenotype relationship...
June 12, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28607205/brain-injury-and-neurodevelopmental-outcome-in-congenital-heart-disease-a-systematic-review
#18
REVIEW
Mirthe J Mebius, Elisabeth M W Kooi, Catherina M Bilardo, Arend F Bos
CONTEXT: Brain injury during prenatal and preoperative postnatal life might play a major role in neurodevelopmental impairment in infants with congenital heart disease (CHD) who require corrective or palliative surgery during infancy. A systematic review of cerebral findings during this period in relation to neurodevelopmental outcome (NDO), however, is lacking. OBJECTIVE: To assess the association between prenatal and postnatal preoperative cerebral findings and NDO in infants with CHD who require corrective or palliative surgery during infancy...
June 13, 2017: Pediatrics
https://www.readbyqxmd.com/read/28606411/can-parasitic-worms-cure-the-modern-world-s-ills
#19
REVIEW
Margaret M Harnett, William Harnett
There has been increasing recognition that the alarming surge in allergy and autoimmunity in the industrialised and developing worlds shadows the rapid eradication of pathogens, such as parasitic helminths. Appreciation of this has fuelled an explosion in research investigating the therapeutic potential of these worms. This review considers the current state-of-play with a particular focus on exciting recent advances in the identification of potential novel targets for immunomodulation that can be exploited therapeutically...
June 9, 2017: Trends in Parasitology
https://www.readbyqxmd.com/read/28596978/multiple-roles-of-ulk4-in-neurogenesis-and-brain-function
#20
Min Liu, Ping Xu, Timothy O'Brien, Sanbing Shen
Neurogenesis is essential for proper brain formation and function, and abnormal neural proliferation is an underlying neuropathology of many brain disorders. Recent advances on adult neurogenesis demonstrate that neural stem cells (NSCs) at the subventricular zone (SVZ) are largely derived during mid-embryonic neurogenesis from a subset of cells, which slow down in their pace of cell division,(1) become quiescent cells and can be reactivated in need.(2) The NSCs at birth constitute the stem cell pool for both postnatal oligodendrogenesis(3) and adult neurogenesis...
2017: Neurogenesis (Austin, Tex.)
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