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https://www.readbyqxmd.com/read/29214702/skin-injuries-and-joint-contractures-of-the-upper-extremities-in-rett-syndrome
#1
D Hirano, T Taniguchi
OBJECTIVES: The purpose of this study was to investigate the incidence and type of skin injuries and joint contractures of the upper extremities in individuals with Rett syndrome. METHODS: In 2016, a questionnaire regarding skin injuries and joint contractures was sent to 1016 directors of schools for special needs education and 204 directors of departments of rehabilitation [consisting of 130 facilities for persons with severe motor and intellectual disabilities (SMID), 73 wards for patients with SMID, and the National Hospital Organisation and National Centre Hospital, National Centre of Neurology and Psychiatry] in Japan...
January 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29213044/-the-course-and-development-of-epilepsy-in-patients-with-typical-variant-of-rett-syndrome-and-mutations
#2
M Yu Bobylova, I V Ivanova, I V Nekrasova, O A Pylaeva, K Yu Mukhin, A A Kholin, Ek S Iljina, A V Kulikov, El S Iljina, Yu E Nesterovsky
AIM: To study the anamnesis, clinical state, electro-encephalographic and brain MRI characteristics in patients with Rett syndrome (МЕСР2) and epilepsy. MATERIAL AND METHODS: Eleven female patients, aged from 3 to 23 years, with Rett syndrome and MeCP2 mutations were studied. The study continued for 10 years (2006-2015). Assessment of neurological and mental status, night sleep video-EEG monitoring, MRI were performed. RESULTS AND CONCLUSION: Epilepsy was diagnosed in six cases (54...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29206688/current-developments-in-the-genetics-of-rett-and-rett-like-syndrome
#3
Friederike Ehrhart, Nasim Bahram Sangani, Leopold M G Curfs
PURPOSE OF REVIEW: This article reviews the current molecular genetic studies, which investigate the genetic causes of Rett syndrome or Rett-like phenotypes without a classical MECP2 mutation. RECENT FINDINGS: As next generation sequencing becomes broadly available, especially whole exome sequencing is used in clinical diagnosis of the genetic causes of a wide spectrum of intellectual disability, autism, and encephalopathies. Patients who were diagnosed with Rett syndrome or Rett-like syndrome because of their phenotype but were negative for mutations in the MECP2, CDKL5 or FOXG1 genes were subjected to whole exome sequencing and the results of the last few years revealed yet 69 different genes...
December 4, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/29203410/breathing-disturbances-in-a-model-of-rett-syndrome-a-potential-involvement-of-the-glycine-receptor-%C3%AE-3-subunit
#4
Guillaume Mesuret, Julia Dannenberg, Mauricio Arnoldt, Anja-Annett Grützner, Marcus Niebert, Swen Hülsmann
The glycine receptor α3 subunit is known to be a target for cAMP/PKA-mediated phosphorylation and regulation. Mice that lack this subunit are apparently normal but the 5-HT1A-receptor mediated modulation of respiratory network activity is disturbed. Since the intracellular cAMP-concentration is reduced in mice that lack the transcriptional modulator methyl-CpG-binding protein 2 (MeCP2) gene, we aimed to test if the α3 subunit of the glycine receptor is involved in the development of the breathing phenotype of MeCP2-deficient mice (Mecp2-/y)...
December 1, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/29194024/adapting-the-mullen-scales-of-early-learning-for-a-standardized-measure-of-development-in-children-with-rett-syndrome
#5
Tessa Clarkson, Jocelyn LeBlanc, Geneva DeGregorio, Vanessa Vogel-Farley, Katherine Barnes, Walter E Kaufmann, Charles A Nelson
Rett Syndrome (RTT) is characterized by severe impairment in fine motor (FM) and expressive language (EL) function, making accurate evaluations of development difficult with standardized assessm ents. In this study, the administration and scoring of the Mullen Scales of Early Learning (MSEL) were adapted to eliminate the confounding effects of FM and EL impairments in assessing development. Forty-seven girls with RTT were assessed with the Adapted-MSEL (MSEL-A), a subset (n = 30) was also assessed using the Vineland Adaptive Behavior Scales-Second Edition (Vineland-II) and a further subset (n = 17) was assessed using an eye-tracking version of the MSEL (MSEL-ET)...
December 2017: Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/29192378/comparing-parental-well-being-and-its-determinants-across-three-different-genetic-disorders-causing-intellectual-disability
#6
Yuka Mori, Jenny Downs, Kingsley Wong, Jane Heyworth, Helen Leonard
Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n = 187) and International CDKL5 Disorder (n = 168) Databases. Among 596 mothers (median age, years 43.7; 24.6-72.2), emotional well-being was poorer than general female populations across age groups...
November 30, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29185709/rett-syndrome-a-genetic-update-and-clinical-review-focusing-on-comorbidities
#7
Wendy A Gold, Rahul Krishnaraj, Carolyn Ellaway, John Christodoulou
Rett syndrome (RTT) is a profound neurodevelopmental disorder that primarily affects females resulting in severe intellectual and physical disabilities. Despite the commendable collective efforts of the research community to better understand the genetics and underlying biology of RTT, there is still no cure. However, in the past 50 years, since the first report of RTT, steady progress has been made in the accumulation of clinical and molecular information resulting in the identification of a number of genes associated with RTT and associated phenotypes, improved diagnostic criteria, natural history studies, curation of a number of databases capturing genotypic and phenotypic data, a number of promising clinical trials and exciting novel therapeutic options which are currently being testing in laboratory and clinical settings...
November 29, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29137252/a-novel-mutation-r190h-in-the-at-hook-1-domain-of-mecp2-identified-in-an-atypical-rett-syndrome
#8
Xiao Zhou, Yuangao Liao, Miaojing Xu, Zhong Ji, Yunqi Xu, Liang Zhou, Xiaoming Wei, Peiqian Hu, Peng Han, Fanghan Yang, Suyue Pan, Yafang Hu
Background: Mutations in Methyl-CpG binding protein 2 (MECP2) have been identified as the disease-causing mutations in Rett Syndrome (RTT). However, no mutation in the AT-hook 1 domain of MECP2 has been reported in RTT yet. The function of AT-hook 1 domain of MECP2 has not been described either. Methods: The clinical and radiological features of a girl with progressive hyperactivity and loss of acquired linguistic and motor functions were presented. Next generation sequencing was used to screen the causative gene...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29128445/the-promise-of-induced-pluripotent-stem-cells-for-neurodevelopmental-disorders
#9
REVIEW
Katrin Linda, Carol Fiuza, Nael Nadif Kasri
A major challenge in clinical genetics and medicine is represented by genetically and phenotypically highly diverse neurodevelopmental disorders, like for example intellectual disability and autism. Intellectual disability is characterized by substantial limitations in cognitive function and adaptive behaviour. At the cellular level, this is reflected by deficits in synaptic structure and plasticity and therefore has been coined as a synaptic disorder or "synaptopathy". In this review, we summarize the findings from recent studies in which iPSCs have been used to model specific neurodevelopmental syndromes, including Fragile X syndrome, Rett syndrome, Williams-Beuren syndrome and Phelan-McDermid syndrome...
November 8, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29101034/biophysical-characterization-of-the-basic-cluster-in-the-transcription-repression-domain-of-human-mecp2-with-at-rich-dna
#10
Ameeq Ul Mushtaq, Yejin Lee, Eunha Hwang, Jeong Kyu Bang, Eunmi Hong, Youngjoo Byun, Ji-Joon Song, Young Ho Jeon
MeCP2 is a chromatin associated protein which is highly expressed in brain and relevant with Rett syndrome (RTT). There are AT-hook motifs in MeCP2 which can bind with AT-rich DNA, suggesting a role in chromatin binding. Here, we report the identification and characterization of another AT-rich DNA binding motif (residues 295 to 313) from the C-terminal transcription repression domain of MeCP2 by nuclear magnetic resonance (NMR) and isothermal calorimetry (ITC). This motif shows a micromolar affinity to AT-rich DNA, and it binds to the minor groove of DNA like AT-hook motifs...
October 31, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29090078/rna-sequencing-and-proteomics-approaches-reveal-novel-deficits-in-the-cortex-of-mecp2-deficient-mice-a-model-for-rett-syndrome
#11
Natasha L Pacheco, Michael R Heaven, Leanne M Holt, David K Crossman, Kristin J Boggio, Scott A Shaffer, Daniel L Flint, Michelle L Olsen
BACKGROUND: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the transcriptional regulator MeCP2. Much of our understanding of MeCP2 function is derived from transcriptomic studies with the general assumption that alterations in the transcriptome correlate with proteomic changes. Advances in mass spectrometry-based proteomics have facilitated recent interest in the examination of global protein expression to better understand the biology between transcriptional and translational regulation...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29079079/assessing-cognitive-functioning-in-females-with-rett-syndrome-by-eye-tracking-methodology
#12
Jaana Ahonniska-Assa, Orli Polack, Einat Saraf, Judy Wine, Tamar Silberg, Andreea Nissenkorn, Bruria Ben-Zeev
BACKGROUND: While many individuals with severe developmental impairments learn to communicate with augmentative and alternative communication (AAC) devices, a significant number of individuals show major difficulties in the effective use of AAC. Recent technological innovations, i.e., eye-tracking technology (ETT), aim to improve the transparency of communication and may also enable a more valid cognitive assessment. OBJECTIVES: To investigate whether ETT in forced-choice tasks can enable children with very severe motor and speech impairments to respond consistently, allowing a more reliable evaluation of their language comprehension...
October 10, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29078406/site-directed-rna-repair-of-endogenous-mecp2-rna-in-neurons
#13
John R Sinnamon, Susan Y Kim, Glen M Corson, Zhen Song, Hiroyuki Nakai, John P Adelman, Gail Mandel
Rett syndrome (RTT) is a debilitating neurological disorder caused by mutations in the gene encoding the transcription factor Methyl CpG Binding Protein 2 (MECP2). A distinct disorder results from MECP2 gene duplication, suggesting that therapeutic approaches must restore close to normal levels of MECP2. Here, we apply the approach of site-directed RNA editing to repair, at the mRNA level, a disease-causing guanosine to adenosine (G > A) mutation in the mouse MeCP2 DNA binding domain. To mediate repair, we exploit the catalytic domain of Adenosine Deaminase Acting on RNA (ADAR2) that deaminates A to inosine (I) residues that are subsequently translated as G...
October 31, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29075622/autistic-siblings-with-novel-mutations-in-two-different-genes-insight-for-genetic-workups-of-autistic-siblings-and-connection-to-mitochondrial-dysfunction
#14
Barrett J Burger, Shannon Rose, Sirish C Bennuri, Pritmohinder S Gill, Marie L Tippett, Leanna Delhey, Stepan Melnyk, Richard E Frye
The prevalence of autism spectrum disorder (ASD) is high, yet the etiology of this disorder is still uncertain. Advancements in genetic analysis have provided the ability to identify potential genetic changes that may contribute to ASD. Interestingly, several genetic syndromes have been linked to metabolic dysfunction, suggesting an avenue for treatment. In this case study, we report siblings with ASD who had similar initial phenotypic presentations. Whole exome sequencing (WES) revealed a novel c.795delT mutation in the WDR45 gene affecting the girl, which was consistent with her eventual progression to a Rett-like syndrome phenotype including seizures along with a stereotypical cyclic breathing pattern...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29075037/neurodevelopmental-disorders-miniaturized-protein-offers-treatment-hopes-for-rett-syndrome
#15
Charlotte Ridler
No abstract text is available yet for this article.
October 27, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29074463/disruption-of-at-hook-1-domain-in-mecp2-protein-caused-behavioral-abnormality-in-mice
#16
Miaojing Xu, Pingping Song, Wei Huang, Rongni He, Yong He, Xiao Zhou, Yong Gu, Suyue Pan, Yafang Hu
MECP2 is the causative gene for autism spectrum disorders, including Rett syndrome, a regressive neurodevelopmental rare disease mainly occurring in girls. Except for the distinct methyl-CpG binding domain and the transcriptional repression domain in MeCP2, three AT-hook-like domains have recently been identified. Several mutations in AT-hook 1 domain have been reported in autism cases or Rett database. However, the role of AT-hook 1 domain is still unclear. In this study, we generated a mouse line carrying deletion of eight conserved amino acids in AT-hook 1 domain by clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 technology...
October 24, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29073271/lower-incidence-of-fracture-after-iv-bisphosphonates-in-girls-with-rett-syndrome-and-severe-bone-fragility
#17
Anne-Sophie Lambert, Anya Rothenbuhler, Perrine Charles, Sylvie Brailly-Tabard, Séverine Trabado, Elisabeth Célestin, Emmanuel Durand, Isabelle Fontaine, Lotfi Miladi, Philippe Wicart, Nadia Bahi-Buisson, Agnès Linglart
BACKGROUND: Classic Rett Syndrome (RS) is a disabling condition mainly caused by MECP2 mutations. Girls with RS are at risk of developing bone fragility and fractures at a young age which results in pain and may seriously impair quality of life. OBJECTIVE: To retrospectively assess the safety and efficacy of IV bisphosphonates on fracture, bone mineral density (BMD) and bone markers in RS girls with bone fragility. METHODS: RS girls received either IV pamidronate (n = 19) or IV zoledronate (n = 1) for 2 years...
2017: PloS One
https://www.readbyqxmd.com/read/29071615/-hypertension-and-diabetes-dangerous-syntropy
#18
REVIEW
Kristian Rett
No abstract text is available yet for this article.
October 2017: MMW Fortschritte der Medizin
https://www.readbyqxmd.com/read/29059905/classification-of-respiratory-disturbances-in-rett-syndrome-patients-using-restricted-boltzmann-machine
#19
Heather M O'Leary, Juan Manuel Mayor, Chi-Sang Poon, Walter E Kaufmann, Mustafa Sahin
Rett syndrome (RTT) is a severe neurodevelopmental disorder that can cause pervasive wakeful respiratory disturbances that include tachypnea, breath-holding, and central apnea. Quantitative analysis of these respiratory disturbances in RTT is considered a promising outcome measure for clinical trials. Currently, machine learning methodologies have not been employed to automate the classification of RTT respiratory disturbances. In this paper, we propose using temporal, flow, and autocorrelation features taken from the respiratory inductance plethsymography chest signal...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29050935/the-l1-adhesion-molecule-normalizes-neuritogenesis-in-rett-syndrome-derived-neural-precursor-cells
#20
Myungsik Yoo, Cassiano Carromeu, Ohyoon Kwon, Alysson Muotri, Melitta Schachner
Therapeutic intervention is an important need in ameliorating the severe consequences of Rett Syndrome (RTT), a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein-2 (MeCP2). Following previously observed morphological defects in induced pluripotent stem cell (iPSC)-derived neurons obtained from female RTT patients, we hypothesized that transfection with the L1 cell adhesion molecule (L1) could contribute to normalizing a pathological male cell system bearing a nonsense mutation of MeCP2...
October 16, 2017: Biochemical and Biophysical Research Communications
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