keyword
MENU ▼
Read by QxMD icon Read
search

Rett syndrome

keyword
https://www.readbyqxmd.com/read/29774230/early-vocal-development-in-autism-spectrum-disorder-rett-syndrome-and-fragile-x-syndrome-insights-from-studies-using-retrospective-video-analysis
#1
Laura Roche, Dajie Zhang, Katrin D Bartl-Pokorny, Florian B Pokorny, Björn W Schuller, Gianluca Esposito, Sven Bölte, Herbert Roeyers, Luise Poustka, Markus Gugatschka, Hannah Waddington, Ralf Vollmann, Christa Einspieler, Peter B Marschik
This article provides an overview of studies assessing the early vocalisations of children with autism spectrum disorder (ASD), Rett syndrome (RTT), and fragile X syndrome (FXS) using retrospective video analysis (RVA) during the first two years of life. Electronic databases were systematically searched and a total of 23 studies were selected. These studies were then categorised according to whether children were later diagnosed with ASD (13 studies), RTT (8 studies), or FXS (2 studies), and then described in terms of (a) participant characteristics, (b) control group characteristics, (c) video footage, (d) behaviours analysed, and (e) main findings...
March 2018: Advances in Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29774207/overview-of-social-cognitive-dysfunctions-in-rare-developmental-syndromes-with-psychiatric-phenotype
#2
REVIEW
Aurore Morel, Elodie Peyroux, Arnaud Leleu, Emilie Favre, Nicolas Franck, Caroline Demily
Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29770459/identification-of-correlative-shifts-in-indices-of-brain-cholesterol-metabolism-in-the-c57bl6-mecp2-tm1-1bird-mouse-a-model-for-rett-syndrome
#3
Dieter Lütjohann, Adam M Lopez, Jen-Chieh Chuang, Anja Kerksiek, Stephen D Turley
Rett syndrome (RS) is a pervasive neurodevelopmental disorder resulting from loss-of-function mutations in the X-linked gene methyl-Cpg-binding protein 2 (MECP2). Using a well-defined model for RS, the C57BL6/Mecp2 tm1.1Bird mouse, we have previously found a moderate but persistently lower rate of cholesterol synthesis, measured in vivo, in the brains of Mecp2 -/y mice, starting from about the third week after birth. There was no genotypic difference in the total cholesterol concentration throughout the brain at any age...
May 17, 2018: Lipids
https://www.readbyqxmd.com/read/29769330/activity-dependent-aberrations-in-gene-expression-and-alternative-splicing-in-a-mouse-model-of-rett-syndrome
#4
Sivan Osenberg, Ariel Karten, Jialin Sun, Jin Li, Shaun Charkowick, Christy A Felice, Mary Kritzer, Minh Vu Chuong Nguyen, Peng Yu, Nurit Ballas
Rett syndrome (RTT) is a severe neurodevelopmental disorder that affects about 1 in 10,000 female live births. The underlying cause of RTT is mutations in the X-linked gene, methyl-CpG-binding-protein-2 ( MECP2 ); however, the molecular mechanism by which these mutations mediate the RTT neuropathology remains enigmatic. Specifically, although MeCP2 is known to act as a transcriptional repressor, analyses of the RTT brain at steady-state conditions detected numerous differentially expressed genes, while the changes in transcript levels were mostly subtle...
May 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29752575/expression-pattern-of-cdkl5-during-zebrafish-early-development-implications-for-use-as-model-for-atypical-rett-syndrome
#5
Marta Vitorino, Nídia Cunha, Natércia Conceição, M Leonor Cancela
Atypical Rett syndrome is a child neurodevelopmental disorder induced by mutations in CDKL5 gene and characterized by a progressive regression in development with loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability. At the moment, there is no cure for this pathology and little information is available concerning animal models capable of mimicking its phenotypes, thus the development of additional animal models should be of interest to gain more knowledge about the disease...
May 11, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29742424/inhibition-of-gsk3b-reduces-nfkb1-signaling-and-rescues-synaptic-activity-to-improve-the-rett-syndrome-phenotype-in-mecp2-knockout-mice
#6
Olga C Jorge-Torres, Karolina Szczesna, Laura Roa, Carme Casal, Louisa Gonzalez-Somermeyer, Marta Soler, Cecilia D Velasco, Pablo Martínez-San Segundo, Paolo Petazzi, Mauricio A Sáez, Raúl Delgado-Morales, Stephane Fourcade, Aurora Pujol, Dori Huertas, Artur Llobet, Sonia Guil, Manel Esteller
Rett syndrome (RTT) is the second leading cause of mental impairment in girls and is currently untreatable. RTT is caused, in more than 95% of cases, by loss-of-function mutations in the methyl CpG-binding protein 2 gene (MeCP2). We propose here a molecular target involved in RTT: the glycogen synthase kinase-3b (Gsk3b) pathway. Gsk3b activity is deregulated in Mecp2-knockout (KO) mice models, and SB216763, a specific inhibitor, is able to alleviate the clinical symptoms with consequences at the molecular and cellular levels...
May 8, 2018: Cell Reports
https://www.readbyqxmd.com/read/29742391/loss-of-mecp2-leads-to-activation-of-p53-and-neuronal-senescence
#7
Minori Ohashi, Elena Korsakova, Denise Allen, Peiyee Lee, Kai Fu, Benni S Vargas, Jessica Cinkornpumin, Carlos Salas, Jenny C Park, Igal Germanguz, Justin Langerman, Contantinos Chronis, Edward Kuoy, Stephen Tran, Xinshu Xiao, Matteo Pellegrini, Kathrin Plath, William E Lowry
To determine the role for mutations of MECP2 in Rett syndrome, we generated isogenic lines of human induced pluripotent stem cells, neural progenitor cells, and neurons from patient fibroblasts with and without MECP2 expression in an attempt to recapitulate disease phenotypes in vitro. Molecular profiling uncovered neuronal-specific gene expression changes, including induction of a senescence-associated secretory phenotype (SASP) program. Patient-derived neurons made without MECP2 showed signs of stress, including induction of P53, and senescence...
May 8, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29742297/advances-in-cellular-and-integrative-control-of-oxygen-homeostasis-within-the-central-nervous-system
#8
Jan-Marino Ramirez, Liza Severs, Sanja C Ramirez, Ibis M Agosto-Marlin
Mammals must continuously regulate the levels of O2 and CO2 , which is particularly important for the brain. Failure to maintain adequate O2 /CO2 homeostasis has been associated with numerous disorders including sleep apnea, Rett syndrome, and sudden infant death syndrome (SIDS). But, O2 /CO2 homeostasis poses major regulatory challenges, even in the healthy brain. Neuronal activities change in a differentiated, spatially and temporally complex manner, which is reflected in equally complex changes in O2 demand...
May 9, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29740280/common-ribs-of-inhibitory-synaptic-dysfunction-in-the-umbrella-of-neurodevelopmental-disorders
#9
REVIEW
Rachel Ali Rodriguez, Christina Joya, Rochelle M Hines
The term neurodevelopmental disorder (NDD) is an umbrella term used to group together a heterogeneous class of disorders characterized by disruption in cognition, emotion, and behavior, early in the developmental timescale. These disorders are heterogeneous, yet they share common behavioral symptomatology as well as overlapping genetic contributors, including proteins involved in the formation, specialization, and function of synaptic connections. Advances may arise from bridging the current knowledge on synapse related factors indicated from both human studies in NDD populations, and in animal models...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29740174/rett-syndrome-insights-into-genetic-molecular-and-circuit-mechanisms
#10
REVIEW
Jacque P K Ip, Nikolaos Mellios, Mriganka Sur
Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). Almost two decades of research into RTT have greatly advanced our understanding of the function and regulation of the multifunctional protein MeCP2. Here, we review recent advances in understanding how loss of MeCP2 impacts different stages of brain development, discuss recent findings demonstrating the molecular role of MeCP2 as a transcriptional repressor, assess primary and secondary effects of MeCP2 loss and examine how loss of MeCP2 can result in an imbalance of neuronal excitation and inhibition at the circuit level along with dysregulation of activity-dependent mechanisms...
May 8, 2018: Nature Reviews. Neuroscience
https://www.readbyqxmd.com/read/29738885/regulation-of-seizure-induced-mecp2-ser421-phosphorylation-in-the-developing-brain
#11
Evan C Rosenberg, Jocelyn J Lippman-Bell, Marcus Handy, Samantha S Soldan, Sanjay Rakhade, Cristina Hilario-Gomez, Kaitlyn Folweiler, Leah Jacobs, Frances E Jensen
Neonatal seizures disrupt normal synaptic maturation and often lead to later-life epilepsy and cognitive deficits. During early life, the brain exhibits heightened synaptic plasticity, in part due to a developmental overabundance of CaV 1.2 L-type voltage gated calcium (Ca2+ ) channels (LT-VGCCs) and Ca2+ -permeable AMPARs (CP-AMPARs) lacking GluA2 subunits. We hypothesized that early-life seizures overactivate these channels, in turn dysregulating Ca2+ -dependent signaling pathways including that of methyl-CPG-binding protein 2 (MeCP2), a transcription factor implicated in the autism spectrum disorder (ASD) Rett Syndrome...
May 5, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29730163/ipsc-derived-neurons-profiling-reveals-gabaergic-circuit-disruption-and-acetylated-%C3%AE-tubulin-defect-which-improves-after-ihdac6-treatment-in-rett-syndrome
#12
Elisa Landucci, Margherita Brindisi, Laura Bianciardi, Lorenza M Catania, Sergio Daga, Susanna Croci, Elisa Frullanti, Chiara Fallerini, Stefania Butini, Simone Brogi, Simone Furini, Riccardo Melani, Angelo Molinaro, Flaminia Clelia Lorenzetti, Valentina Imperatore, Sonia Amabile, Jessica Mariani, Francesca Mari, Francesca Ariani, Tommaso Pizzorusso, Anna Maria Pinto, Flora M Vaccarino, Giuseppe Campiani, Alessandra Renieri, Ilaria Meloni
Mutations in MECP2 gene have been identified in more than 95% of patients with classic Rett syndrome, one of the most common neurodevelopmental disorders in females. Taking advantage of the breakthrough technology of genetic reprogramming, we investigated transcriptome changes in neurons differentiated from induced Pluripotent Stem Cells (iPSCs) derived from patients with different mutations. Profiling by RNA-seq in terminally differentiated neurons revealed a prominent GABAergic circuit disruption along with a perturbation of cytoskeleton dynamics...
May 3, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29725823/esophageal-perforation-caused-by-a-thoracic-pedicle-screw
#13
REVIEW
Stanislas Marouby, Clément Jeandel, Djamel Louahem M'Sabah, Marion Delpont, Jérôme Cottalorda
This grand round raises the risk of a rare complication that can be avoided with the knowledge of the particular anatomy of scoliosis vertebra. Transpedicular screws have been reported to enhance the operative correction in scoliosis surgery. The narrow and inconsistent shape of the thoracic pedicles makes the placement of pedicle screws technically challenging. Furthermore, in thoracic curves, the close proximity of the spinal cord and major soft tissue structures also adds a greater risk to the procedure...
May 3, 2018: European Spine Journal
https://www.readbyqxmd.com/read/29720131/intestinal-candida-parapsilosis-isolates-from-rett-syndrome-subjects-bear-potential-virulent-traits-and-capacity-to-persist-within-the-host
#14
Francesco Strati, Antonio Calabrò, Claudio Donati, Claudio De Felice, Joussef Hayek, Olivier Jousson, Silvia Leoncini, Daniela Renzi, Lisa Rizzetto, Carlotta De Filippo, Duccio Cavalieri
BACKGROUND: Rett syndrome (RTT) is a neurological disorder mainly caused by mutations in MeCP2 gene. It has been shown that MeCP2 impairments can lead to cytokine dysregulation due to MeCP2 regulatory role in T-helper and T-reg mediated responses, thus contributing to the pro-inflammatory status associated with RTT. Furthermore, RTT subjects suffer from an intestinal dysbiosis characterized by an abnormal expansion of the Candida population, a known factor responsible for the hyper-activation of pro-inflammatory immune responses...
May 2, 2018: BMC Gastroenterology
https://www.readbyqxmd.com/read/29718204/a-mutation-led-search-for-novel-functional-domains-in-mecp2
#15
Jacky Guy, Beatrice Alexander-Howden, Laura FitzPatrick, Dina DeSousa, Martha V Koerner, Jim Selfridge, Adrian Bird
Most missense mutations causing Rett syndrome affect domains of MeCP2 that have been shown to either bind methylated DNA or interact with a transcriptional co-repressor complex. Several mutations, however, including the C-terminal truncations that account for ∼10% of cases, fall outside these characterised domains. We studied the molecular consequences of four of these "non-canonical" mutations in cultured neurons and mice to see if they reveal additional essential domains without affecting known properties of MeCP2...
April 27, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29704311/sleep-disturbances-in-rett-syndrome-impact-and-management-including-use-of-sleep-hygiene-practices
#16
Sharolin Boban, Helen Leonard, Kingsley Wong, Andrew Wilson, Jenny Downs
Sleep disturbances are debilitating for individuals with Rett syndrome (RTT) and their families yet the evidence base for management is poor. We investigated management strategies and their relationships with sleep problems. Data were provided by 364/461 (79%) families with a child with RTT and registered with the International RTT Phenotype Database. Logistic regression models were used to investigate relationships between impacts of sleep problems on the child and family with age group, mutation type, medication type, and sleep hygiene score...
April 28, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29704307/mecp2-variation-in-rett-syndrome-an-overview-of-current-coverage-of-genetic-and-phenotype-data-within-existing-databases
#17
Gillian S Townend, Friederike Ehrhart, Henk J van Kranen, Mark Wilkinson, Annika Jacobsen, Marco Roos, Egon L Willighagen, David van Enckevort, Chris T Evelo, Leopold M G Curfs
Rett syndrome (RTT) is a monogenic rare disorder that causes severe neurological problems. In most cases it results from a loss of function mutation in the gene encoding methyl-CPG-binding protein 2 (MECP2). Currently, about 900 unique MECP2 variations (benign and pathogenic) have been identified and it is suspected that the different mutations contribute to different levels of disease severity. For researchers and clinicians, it is important that genotype-phenotype information is available to identify disease-causing mutations for diagnosis, to aid in clinical management of the disorder, and to provide counselling for parents...
April 27, 2018: Human Mutation
https://www.readbyqxmd.com/read/29703090/using-eye-tracking-technology-for-communication-in-rett-syndrome-perceptions-of-impact
#18
Kelli Vessoyan, Gill Steckle, Barb Easton, Megan Nichols, Victoria Mok Siu, Janette McDougall
Studies have investigated the use of eye-tracking technology to assess cognition in individuals with Rett syndrome, but few have looked at this access method for communication for this group. Loss of speech, decreased hand use, and severe motor apraxia significantly impact functional communication for this population. Eye gaze is one modality that may be used successfully by individuals with Rett syndrome. This multiple case study explored whether using eye-tracking technology, with ongoing support from a team of augmentative and alternative communication (AAC) therapists, could help four participants with Rett syndrome meet individualized communication goals...
April 27, 2018: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/29698767/regulation-of-neural-differentiation-synaptic-scaling-and-animal-behavior-by-mecp2-phophorylation
#19
Xiaofen Zhong, Hongda Li, Jason Kim, Qiang Chang
Highly expressed in the mammalian brain and widely distributed across the genome, MeCP2 is a key player in recognizing modified DNA and interpreting the epigenetic information encoded in different DNA methylation/hydroxymethylation patterns. Alterations in sequence or copy number of the X-linked human MECP2 gene cause either Rett syndrome (RTT) or MECP2 duplication syndrome. Alterations in MECP2 levels have also been identified in patients with autism. To fully understand the significant role of MECP2 in regulating the development and function of the nervous system, it is important to study all aspects of MeCP2 function...
April 23, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29694960/kynurenine-pathway-in-autism-spectrum-disorders-in-children
#20
Vesna Bryn, Robert Verkerk, Ola H Skjeldal, Ola Didrik Saugstad, Heidi Ormstad
BACKGROUND: There is increasing evidence that altered immune responses play a role in the pathogenesis of autism spectrum disorders (ASD), together with dysfunction of the serotonergic and glutamatergic systems. Since the kynurenine (KYN) pathway that degrades tryptophan (TRP) is activated in various neuroinflammatory states, we aimed to determine whether this pathway is activated in ASD. METHODS: Sixty-five pediatric ASD patients (including 52 boys) were enrolled from an epidemiological survey covering 2 counties in Norway; 30 (46...
April 25, 2018: Neuropsychobiology
keyword
keyword
15695
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"