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https://www.readbyqxmd.com/read/27900948/prediction-of-antiepileptic-drug-treatment-outcomes-using-machine-learning
#1
Sinisa Colic, Robert G Wither, Min Lang, Liang Zhang, James H Eubanks, Berj L Bardakjian
OBJECTIVE: Antiepileptic drug (AED) treatments produce inconsistent outcomes, often necessitating patients to go through several drug trials until a successful treatment can be found. This study proposes the use of machine learning techniques to predict epilepsy treatment outcomes of commonly used AEDs. APPROACH: Machine learning algorithms were trained and evaluated using features obtained from intracranial electroencephalogram (iEEG) recordings of the epileptiform discharges observed in Mecp2-deficient mouse model of the Rett Syndrome...
November 30, 2016: Journal of Neural Engineering
https://www.readbyqxmd.com/read/27900411/inflammatory-protein-response-in-cdkl5-rett-syndrome-evidence-of-a-subclinical-smouldering-inflammation
#2
Alessio Cortelazzo, Claudio de Felice, Silvia Leoncini, Cinzia Signorini, Roberto Guerranti, Roberto Leoncini, Alessandro Armini, Luca Bini, Lucia Ciccoli, Joussef Hayek
BACKGROUND: Mutations in the cyclin-dependent kinase-like 5 gene cause a clinical variant of Rett syndrome (CDKL5-RTT). A role for the acute-phase response (APR) is emerging in typical RTT caused by methyl-CpG-binding protein 2 gene mutations (MECP2-RTT). No information is, to date, available on the inflammatory protein response in CDKL5-RTT. We evaluated, for the first time, the APR protein response in CDKL5-RTT. METHODS: Protein patterns in albumin- and IgG-depleted plasma proteome from CDKL5-RTT patients were evaluated by two-dimensional gel electrophoresis/mass spectrometry...
November 29, 2016: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://www.readbyqxmd.com/read/27899087/paradoxical-physiological-responses-to-propranolol-in-a-rett-syndrome-patient-a-case-report
#3
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27895554/systemic-radical-scavenger-treatment-of-a-mouse-model-of-rett-syndrome-merits-and-limitations-of-the-vitamin-e-derivative-trolox
#4
Oliwia A Janc, Marc A Hüser, Katharina Dietrich, Belinda Kempkes, Christiane Menzfeld, Swen Hülsmann, Michael Müller
Rett syndrome (RTT) is a severe neurodevelopmental disorder typically arising from spontaneous mutations in the X-chromosomal methyl-CpG binding protein 2 (MECP2) gene. The almost exclusively female Rett patients show an apparently normal development during their first 6-18 months of life. Subsequently, cognitive- and motor-impairment, hand stereotypies, loss of learned skills, epilepsy and irregular breathing manifest. Early mitochondrial impairment and oxidative challenge are considered to facilitate disease progression...
2016: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/27892851/lovastatin-fails-to-improve-motor-performance-and-survival-in-methyl-cpg-binding-protein2-null-mice
#5
Claudia Villani, Giuseppina Sacchetti, Renzo Bagnati, Alice Passoni, Federica Fusco, Mirjana Carli, Roberto William Invernizzi
Previous studies provided evidence for the alteration of brain cholesterol homeostasis in 129.Mecp2-null mice, an experimental model of Rett syndrome. The efficacy of statins in improving motor symptoms and prolonging survival of mutant mice suggested a potential role of statins in the therapy of Rett syndrome. In the present study, we show that Mecp2 deletion had no effect on brain and reduced serum cholesterol levels and lovastatin (1.5 mg/kg, twice weekly as in the previous study) had no effects on motor deficits and survival when Mecp2 deletion was expressed on a background strain (C57BL/6J; B6) differing from that used in the earlier study...
November 28, 2016: ELife
https://www.readbyqxmd.com/read/27887736/use-of-clarus-video-system-%C3%A2-in-expected-difficult-airway-in-a-patient-with-rett-syndrome
#6
L España Fuente, R E Méndez Redondo, J L González González
Difficult airway management remains one of the key points in our specialty, as the difficulty or impossibility of tracheal intubation is the main cause of morbidity/mortality attributable to anaesthesia. Rett syndrome is a severe and incapacitating neurological disease. We present the case of a 21-year-old girl affected by this syndrome, with significant psychomotor retardation and difficult airway predictors, who was scheduled to have a laparoscopic cholecystectomy under general anaesthesia. We decided on one attempt of Clarus Video System(®) fiberoptic intubation as primary intervention...
November 22, 2016: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/27884797/breathing-abnormalities-in-animal-models-of-rett-syndrome-a-female-neurogenetic-disorder
#7
REVIEW
Chun Jiang, Ningren Cui, Weiwei Zhong, Christopher M Johnson, Yang Wu
A characteristic feature of Rett syndrome (RTT) is abnormal breathing accompanied by several other neurological and cognitive disorders. Since RTT rodent models became available, studies have begun shedding insight into the breathing abnormalities at behavioral, cellular and molecular levels. Defects are found in several groups of brainstem neurons involved in respiratory control, and potential neural mechanisms have been suggested. The findings in animal models are helpful in therapeutic strategies for people with RTT with respect to lowering sudden and unexpected death, preventing secondary developmental consequences, and improving the quality of lives...
November 21, 2016: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/27884167/rett-syndrome-biological-pathways-leading-from-mecp2-to-disorder-phenotypes
#8
REVIEW
Friederike Ehrhart, Susan L M Coort, Elisa Cirillo, Eric Smeets, Chris T Evelo, Leopold M G Curfs
Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females. Typical symptoms are onset at month 6-18 after normal pre- and postnatal development, loss of acquired skills and severe intellectual disability. The type and severity of symptoms are individually highly different. A single mutation in one gene, coding for methyl-CpG-binding protein 2 (MECP2), is responsible for the disease. The most important action of MECP2 is regulating epigenetic imprinting and chromatin condensation, but MECP2 influences many different biological pathways on multiple levels although the molecular pathways from gene to phenotype are currently not fully understood...
November 25, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27881780/negative-allosteric-modulation-of-mglur5-partially-corrects-pathophysiology-in-a-mouse-model-of-rett-syndrome
#9
Jifang Tao, Hao Wu, Amanda A Coronado, Elizabeth de Laittre, Emily K Osterweil, Yi Zhang, Mark F Bear
: Rett syndrome (RTT) is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2), an epigenetic regulator of mRNA transcription. Here, we report a test of the hypothesis of shared pathophysiology of RTT and fragile X, another monogenic cause of autism and intellectual disability. In fragile X, the loss of the mRNA translational repressor FMRP leads to exaggerated protein synthesis downstream of metabotropic glutamate receptor 5 (mGluR5). We found that mGluR5- and protein-synthesis-dependent synaptic plasticity were similarly altered in area CA1 of Mecp2 KO mice...
November 23, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27868160/severe-changes-in-colon-epithelium-in-the-mecp2-null-mouse-model-of-rett-syndrome
#10
Pamela Millar-Büchner, Amber R Philp, Noemí Gutierrez, Sandra Villanueva, Bredford Kerr, Carlos A Flores
BACKGROUND: Rett syndrome is best known due to its severe and devastating symptoms in the central nervous system. It is produced by mutations affecting the Mecp2 gene that codes for a transcription factor. Nevertheless, evidence for MECP2 activity has been reported for tissues other than those of the central nervous system. Patients affected by Rett presented with intestinal affections whose origin is still not known. We have observed that the Mecp2-null mice presented with episodes of diarrhea, and decided to study the intestinal phenotype in these mice...
December 2016: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/27867150/generation-and-analysis-of-the-rett-syndrome-associated-mecp2-null-rat-model
#11
(no author information available yet)
MeCP2 mutations are associated with the Rett syndrome (RTT). Currently, there is an urgent need for new animal models for RTT as the existing MeCP2 knockout mouse models fail to fully mimic the pathogenesis and symptoms of RTT patients. In order to investigate the role of MeCP2 in brain development and RTT pathogenesis, we aimed to set up the MeCP2-null rat model using the CRISPR/Cas9 technology. Firstly we constructed the MeCP2 targeting vector and then microinjected Cas9 mRNA and sgRNA mixtures into fertilized ova of SD rats...
November 20, 2016: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/27831472/huda-zoghbi
#12
(no author information available yet)
Huda Zoghbi's experience diagnosing patients with Rett syndrome motivated her scientific research. In an interview with Neuron, she shares a trinucleotide repeat expansion discovery story, offers advice for young investigators, and discusses the tools needed to drive discovery forward.
October 19, 2016: Neuron
https://www.readbyqxmd.com/read/27830264/an-exploration-of-the-use-of-eye-gaze-and-gestures-in-females-with-rett-syndrome
#13
Anna Urbanowicz, Jenny Downs, Sonya Girdler, Natalie Ciccone, Helen Leonard
Purpose: This study investigated the communicative use of eye gaze and gestures in females with Rett syndrome. Method: Data on 151 females with Rett syndrome participating in the Australian Rett Syndrome Database was used in this study. Items from the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist (Wetherby & Prizant, 2002) were used to measure communication. Relationships between the use of eye gaze and gestures for communication were investigated using logistic regression...
November 8, 2016: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/27828991/loss-of-mecp2-causes-urological-dysfunction-and-contributes-to-death-by-kidney-failure-in-mouse-models-of-rett-syndrome
#14
Christopher S Ward, Teng-Wei Huang, José A Herrera, Rodney C Samaco, Meagan R Pitcher, Alan Herron, Steven A Skinner, Walter E Kaufmann, Daniel G Glaze, Alan K Percy, Jeffrey L Neul
Rett Syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills during development, autonomic dysfunction, and an increased risk for premature lethality. Clinical experience identified a subset of individuals with RTT that present with urological dysfunction including individuals with frequent urinary tract infections, kidney stones, and urine retention requiring frequent catheterization for bladder voiding. To determine if urologic dysfunction is a feature of RTT, we queried the Rett Syndrome Natural History Study, a repository of clinical data from over 1000 individuals with RTT and found multiple instances of urological dysfunction...
2016: PloS One
https://www.readbyqxmd.com/read/27817243/activities-that-girls-and-women-with-rett-syndrome-liked-or-did-not-like-to-do
#15
Åsa-Sara Sernheim, Helena Hemmingsson, Ingegerd Witt Engerström, Gunilla Liedberg
OBJECTIVE: Activities occur in all people's lives. This study investigated over a period of time, 15 years, what activities were enjoyed or not enjoyed and what activities parents and staff liked to do with girls/women with Rett syndrome. METHOD: A descriptive study was conducted using secondary data from three earlier questionnaires at the Swedish National Rett Center. The first questionnaire provided data on 123 girls/women with Rett syndrome, the second on 52 and the third questionnaire, on 39...
November 6, 2016: Scandinavian Journal of Occupational Therapy
https://www.readbyqxmd.com/read/27803317/jointly-reduced-inhibition-and-excitation-underlies-circuit-wide-changes-in-cortical-processing-in-rett-syndrome
#16
Abhishek Banerjee, Rajeev V Rikhye, Vincent Breton-Provencher, Xin Tang, Chenchen Li, Keji Li, Caroline A Runyan, Zhanyan Fu, Rudolf Jaenisch, Mriganka Sur
Rett syndrome (RTT) arises from loss-of-function mutations in methyl-CpG binding protein 2 gene (Mecp2), but fundamental aspects of its physiological mechanisms are unresolved. Here, by whole-cell recording of synaptic responses in MeCP2 mutant mice in vivo, we show that visually driven excitatory and inhibitory conductances are both reduced in cortical pyramidal neurons. The excitation-to-inhibition (E/I) ratio is increased in amplitude and prolonged in time course. These changes predict circuit-wide reductions in response reliability and selectivity of pyramidal neurons to visual stimuli, as confirmed by two-photon imaging...
November 1, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27794538/methyl-cpg-binding-protein-2-function-in-cholinergic-neurons-mediates-cardiac-arrhythmogenesis
#17
José A Herrera, Christopher S Ward, Xander H T Wehrens, Jeffrey L Neul
Sudden unexpected death occurs in one quarter of deaths in Rett Syndrome (RTT), a neurodevelopmental disorder caused by mutations in Methyl-CpG-binding protein 2 (MECP2). People with RTT show a variety of autonomic nervous system (ANS) abnormalities and mouse models show similar problems including QTc interval prolongation and hypothermia. To explore the role of cardiac problems in sudden death in RTT, we characterized cardiac rhythm in mice lacking Mecp2 function. Male and female mutant mice exhibited spontaneous cardiac rhythm abnormalities including bradycardic events, sinus pauses, atrioventricular block, premature ventricular contractions, non-sustained ventricular arrhythmias, and increased heart rate variability...
October 18, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27789278/suppression-of-brain-cholesterol-synthesis-in-male-mecp2-deficient-mice-is-age-dependent-and-not-accompanied-by-a-concurrent-change-in-the-rate-of-fatty-acid-synthesis
#18
Adam M Lopez, Jen-Chieh Chuang, Kenneth S Posey, Stephen D Turley
Mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2) are the principal cause of Rett syndrome, a progressive neurodevelopmental disorder afflicting 1 in 10,000 to 15,000 females. Studies using hemizygous Mecp2 mouse models have revealed disruptions to some aspects of their lipid metabolism including a partial suppression of cholesterol synthesis in the brains of mature Mecp2 mutants. The present studies investigated whether this suppression is evident from early neonatal life, or becomes manifest at a later stage of development...
January 1, 2017: Brain Research
https://www.readbyqxmd.com/read/27786169/therapeutic-potential-of-transcranial-focused-ultrasound-for-rett-syndrome
#19
Shih-Jen Tsai
Rett syndrome (RTT) is a severe neurodevelopmental disorder occurring almost exclusively in females and is caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2) in the majority of cases. MeCP2 is essential for the normal function of nerve cells, including neuronal development, maturation, and synaptic activity. RTT is characterized by normal early development followed by autistic-like features, slowed brain and head growth, gait abnormalities, seizures, breathing irregularities, and cognitive disabilities...
October 27, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27782879/loss-of-mecp2-disrupts-cell-autonomous-and-autocrine-bdnf-signaling-in-mouse-glutamatergic-neurons
#20
Charanya Sampathkumar, Yuan-Ju Wu, Mayur Vadhvani, Thorsten Trimbuch, Britta Eickholt, Christian Rosenmund
Mutations in the MECP2 gene cause the neurodevelopmental disorder Rett syndrome (RTT). Previous studies have shown that altered MeCP2 levels result in aberrant neurite outgrowth and glutamatergic synapse formation. However, causal molecular mechanisms are not well understood since MeCP2 is known to regulate transcription of a wide range of target genes. Here, we describe a key role for a constitutive BDNF feed forward signaling pathway in regulating synaptic response, general growth and differentiation of glutamatergic neurons...
October 26, 2016: ELife
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