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https://www.readbyqxmd.com/read/29370729/metaplasticity-a-promising-tool-to-disentangle-chronic-disorders-of-consciousness-differential-diagnosis
#1
Antonino Naro, Alessia Bramanti, Antonino Leo, Placido Bramanti, Rocco Salvatore Calabrò
The extent of cortical reorganization after brain injury in patients with Vegetative State /Unresponsive Wakefulness Syndrome (UWS) and Minimally Conscious State (MCS) depends on the residual capability of modulating synaptic plasticity. Neuroplasticity is largely abnormal in patients with UWS, although the fragments of cortical activity may exist, while patients MCS show a better cortical organization. The aim of this study was to evaluate cortical excitability in patients with disorders of consciousness (DoC) using a transcranial direct current stimulation (TDCS) metaplasticity protocol...
December 17, 2017: International Journal of Neural Systems
https://www.readbyqxmd.com/read/29339483/hells-and-cdca7-comprise-a-bipartite-nucleosome-remodeling-complex-defective-in-icf-syndrome
#2
Christopher Jenness, Simona Giunta, Manuel M Müller, Hiroshi Kimura, Tom W Muir, Hironori Funabiki
Mutations in CDCA7, the SNF2 family protein HELLS (LSH), or the DNA methyltransferase DNMT3b cause immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. While it has been speculated that DNA methylation defects cause this disease, little is known about the molecular function of CDCA7 and its functional relationship to HELLS and DNMT3b. Systematic analysis of how the cell cycle, H3K9 methylation, and the mitotic kinase Aurora B affect proteomic profiles of chromatin in Xenopus egg extracts revealed that HELLS and CDCA7 form a stoichiometric complex on chromatin, in a manner sensitive to Aurora B...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29282701/towards-icf-implementation-in-menopause-healthcare-a-systematic-review-of-icf-application-in-switzerland
#3
Martina Zangger, Dagmar Poethig, Florian Meissner, Michael von Wolff, Petra Stute
AIMS OF THE STUDY: To present a systematic literature review on the application and degree of implementation of the International Classification of Functioning, Disability and Health (ICF) across different health conditions and regions in Switzerland in order to develop an ICF classification of the climacteric syndrome in the medium term. METHODS: A systematic literature search was conducted through Embase and Medline covering the period between 2011 and August 2016...
December 28, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29218312/potassium-homeostasis-oxidative-stress-and-human-disease
#4
Udensi K Udensi, Paul B Tchounwou
Potassium is the most abundant cation in the intracellular fluid and it plays a vital role in the maintenance of normal cell functions. Thus, potassium homeostasis across the cell membrane, is very critical because a tilt in this balance can result in different diseases that could be life threatening. Both Oxidative stress (OS) and potassium imbalance can cause life threatening health conditions. OS and abnormalities in potassium channel have been reported in neurodegenerative diseases. This review highlights the major factors involved in potassium homeostasis (dietary, hormonal, genetic, and physiologic influences), and discusses the major diseases and abnormalities associated with potassium imbalance including hypokalemia, hyperkalemia, hypertension, chronic kidney disease, and Gordon's syndrome, Bartter syndrome, and Gitelman syndrome...
2017: International Journal of Clinical and Experimental Physiology
https://www.readbyqxmd.com/read/29213090/evaluation-of-short-interval-cortical-inhibition-and-intracortical-facilitation-from-the-dorsolateral-prefrontal-cortex-in-patients-with-schizophrenia
#5
Yoshihiro Noda, Mera S Barr, Reza Zomorrodi, Robin F H Cash, Faranak Farzan, Tarek K Rajji, Robert Chen, Zafiris J Daskalakis, Daniel M Blumberger
GABAergic and glutamatergic dysfunction in the dorsolateral prefrontal cortex (DLPFC) are thought to be the core pathophysiological mechanisms of schizophrenia. Recently, we have established a method to index these functions from the DLPFC using the paired transcranial magnetic stimulation (TMS) paradigms of short interval intracortical inhibition (SICI) and facilitation (ICF) combined with electroencephalography (EEG). In this study, we aimed to evaluate neurophysiological indicators related to GABAA and glutamate receptor-mediated functions respectively from the DLPFC in patients with schizophrenia using these paradigms, compared to healthy controls...
December 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29194871/are-you-better-a-multi-centre-study-of-patient-defined-recovery-from-complex-regional-pain-syndrome
#6
A Llewellyn, C S McCabe, Y Hibberd, P White, L Davies, J Marinus, R G S M Perez, I Thomassen, F Brunner, C Sontheim, F Birklein, T Schlereth, A Goebel, R Haigh, R Connett, C Maihöfner, L Knudsen, R N Harden, A Zyluk, D Shulman, H Small, F Gobeil, P Moskovitz
BACKGROUND: Complex Regional Pain Syndrome (CRPS) symptoms can significantly differ between patients, fluctuate over time, disappear or persist. This leads to problems in defining recovery and in evaluating the efficacy of therapeutic interventions. OBJECTIVES: To define recovery from the patients' perspective and better understand their priorities for treatment approaches. METHODS: Establishing an international consortium, we used a 2-Round Delphi-based study in eight countries across Europe and North America...
December 1, 2017: European Journal of Pain: EJP
https://www.readbyqxmd.com/read/29023266/novel-zbtb24-mutation-associated-with-immunodeficiency-centromere-instability-and-facial-anomalies-type-2-syndrome-identified-in-a-patient-with-very-early-onset-inflammatory-bowel-disease
#7
Máire A Conrad, Noor Dawany, Kathleen E Sullivan, Marcella Devoto, Judith R Kelsen
BACKGROUND: Very early onset inflammatory bowel disease, diagnosed in children ≤5 years old, can be the initial presentation of some primary immunodeficiencies. METHODS: In this study, we describe a 17-month-old boy with recurrent infections, growth failure, facial anomalies, and inflammatory bowel disease. Immune evaluation, whole-exome sequencing, karyotyping, and methylation array were performed to evaluate the child's constellation of symptoms and examination findings...
December 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28973513/non-random-length-distribution-of-individual-telomeres-in-immunodeficiency-centromeric-instability-and-facial-anomalies-syndrome-type-i
#8
Shira Sagie, Omer Edni, Joseph Weinberg, Shir Toubiana, Tal Kozlovski, Tzviel Frostig, Nirit Katzin, Irit Bar-Am, Sara Selig
Mutations in the de novo DNA methyltransferase DNMT3B lead to Immunodeficiency, Centromeric Instability and Facial anomalies (ICF) syndrome, type I. This syndrome is characterized, among other hypomethylated genomic loci, by severe subtelomeric hypomethylation that is associated with abnormally short telomere length. While it was demonstrated that the mean telomere length is significantly shorter in ICF type I cells, it is unknown whether all telomeres are equally vulnerable to shortening. To study this question we determined by combined telomere-FISH and spectral karyotyping the relative length of each individual telomere in lymphoblastoid cell lines (LCLs) generated from multiple ICF syndrome patients and control individuals...
November 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28878466/a-comparison-of-the-function-activity-and-participation-and-quality-of-life-between-down-syndrome-children-and-typically-developing-children
#9
Hee-Kyoung Jung, EunJung Chung, Byoung-Hee Lee
[Purpose] To compare function, activity, participation, and quality of life of Down syndrome children and typically developing children according to age. [Subjects and Methods] A total of 16 Down syndrome children and 20 children with typical development were included as subjects for this study. International Classification of Functioning, Disability, and Health (ICF) Child and Youth version (CY) developed by the World Health Organization (WHO) and a questionnaire were used to measure children's functioning, activity, and participation...
August 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28854222/rahu-is-a-mutant-allele-of-dnmt3c-encoding-a-dna-methyltransferase-homolog-required-for-meiosis-and-transposon-repression-in-the-mouse-male-germline
#10
Devanshi Jain, Cem Meydan, Julian Lange, Corentin Claeys Bouuaert, Nathalie Lailler, Christopher E Mason, Kathryn V Anderson, Scott Keeney
Transcriptional silencing by heritable cytosine-5 methylation is an ancient strategy to repress transposable elements. It was previously thought that mammals possess four DNA methyltransferase paralogs-Dnmt1, Dnmt3a, Dnmt3b and Dnmt3l-that establish and maintain cytosine-5 methylation. Here we identify a fifth paralog, Dnmt3c, that is essential for retrotransposon methylation and repression in the mouse male germline. From a phenotype-based forward genetics screen, we isolated a mutant mouse called 'rahu', which displays severe defects in double-strand-break repair and homologous chromosome synapsis during male meiosis, resulting in sterility...
August 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28713390/hematopoietic-stem-cell-transplantation-in-an-infant-with-immunodeficiency-centromeric-instability-and-facial-anomaly-syndrome
#11
Katharina L Gössling, Cyrill Schipp, Ute Fischer, Florian Babor, Gerhard Koch, Friedhelm R Schuster, Jutta Dietzel-Dahmen, Dagmar Wieczorek, Arndt Borkhardt, Roland Meisel, Michaela Kuhlen
Immunodeficiency, centromeric instability, and facial anomaly (ICF) syndrome is a rare autosomal recessive genetic condition with severe immunodeficiency, which leads to lethal infections if not recognized and treated in early childhood. Up-to-date treatment regimens consist of prophylactic and supportive treatment of the recurrent infections. Here, we report the case of a 1-year-old boy of Moroccan consanguineous parents, who was diagnosed at 4 months of age with ICF syndrome with a homozygous missense mutation in the DNMT3B gene...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28467588/the-effect-of-2-different-surgical-methods-on-intracompartmental-pressure-value-in-tibial-shaft-fracture-an-experimental-study-in-a-rabbit-model
#12
Cemil Ertürk, Mehmet Akif Altay, Nuray Altay, İbrahim Avşin Öztürk, İslam Baykara, Cemil Sert, Uğur Erdem Işıkan
BACKGROUND: Intracompartmental pressure (ICP) monitoring is a widely used modality, particularly after intramedullary nailing of tibial shaft fractures. It was hypothesized that ICP value in fracture fixed with Ilizarov circular fixator (ICF) might be lower than in fracture fixed with intramedullary pin (IMP). The present study is a comparison of ICP value in tibial fractures in a rabbit model fixed with ICF and IMP. METHODS: Twenty male New Zealand White rabbits were randomly divided into 2 groups of equal size: ICF group (Group 1) and IMP group (Group 2)...
March 2017: Ulusal Travma Ve Acil Cerrahi Dergisi, Turkish Journal of Trauma & Emergency Surgery: TJTES
https://www.readbyqxmd.com/read/28442710/lsh-hells-regulates-self-renewal-proliferation-of-neural-stem-progenitor-cells
#13
Yixing Han, Jianke Ren, Eunice Lee, Xiaoping Xu, Weishi Yu, Kathrin Muegge
Epigenetic mechanisms are known to exert control over gene expression and determine cell fate. Genetic mutations in epigenetic regulators are responsible for several neurologic disorders. Mutations of the chromatin remodeling protein Lsh/HELLS can cause the human Immunodeficiency, Centromere instability and Facial anomalies (ICF) syndrome, which is associated with neurologic deficiencies. We report here a critical role for Lsh in murine neural development. Lsh depleted neural stem/progenitor cells (NSPCs) display reduced growth, increases in apoptosis and impaired ability of self-renewal...
April 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28334849/icf-specific-dnmt3b-dysfunction-interferes-with-intragenic-regulation-of-mrna-transcription-and-alternative-splicing
#14
Sole Gatto, Miriam Gagliardi, Monica Franzese, Sylwia Leppert, Mariarosaria Papa, Marco Cammisa, Giacomo Grillo, Guillame Velasco, Claire Francastel, Shir Toubiana, Maurizio D'Esposito, Claudia Angelini, Maria R Matarazzo
Hypomorphic mutations in DNA-methyltransferase DNMT3B cause majority of the rare disorder Immunodeficiency, Centromere instability and Facial anomalies syndrome cases (ICF1). By unspecified mechanisms, mutant-DNMT3B interferes with lymphoid-specific pathways resulting in immune response defects. Interestingly, recent findings report that DNMT3B shapes intragenic CpG-methylation of highly-transcribed genes. However, how the DNMT3B-dependent epigenetic network modulates transcription and whether ICF1-specific mutations impair this process remains unknown...
June 2, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28306230/the-evidence-based-rationale-for-physical-therapy-treatment-of-children-adolescents-and-adults-diagnosed-with-joint-hypermobility-syndrome-hypermobile-ehlers-danlos-syndrome
#15
Raoul H H Engelbert, Birgit Juul-Kristensen, Verity Pacey, Inge de Wandele, Sandy Smeenk, Nicoleta Woinarosky, Stephanie Sabo, Mark C Scheper, Leslie Russek, Jane V Simmonds
New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. This guideline aims to provide practitioners with the state of the art regarding the assessment and management of children, adolescents, and adults with JHS/hEDS...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28128455/expanding-the-mutation-spectrum-in-icf-syndrome-evidence-for-a-gender-bias-in-icf2
#16
M L van den Boogaard, P E Thijssen, C Aytekin, F Licciardi, A A Kıykım, L Spossito, V A S H Dalm, G J Driessen, R Kersseboom, F de Vries, M M van Ostaijen-Ten Dam, A Ikinciogullari, F Dogu, M Oleastro, E Bailardo, L Daxinger, E Nain, S Baris, M J D van Tol, C Weemaes, S M van der Maarel
BACKGROUND: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare, genetically heterogeneous, autosomal recessive disorder. Patients suffer from recurrent infections caused by reduced levels or absence of serum immunoglobulins. Genetically, 4 subtypes of ICF syndrome have been identified to date: ICF1 (DNMT3B mutations), ICF2 (ZBTB24 mutations), ICF3 (CDCA7 mutations), and ICF4 (HELLS mutations). AIM: To study the mutation spectrum in ICF syndrome...
October 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28119223/the-effect-of-exercise-intervention-on-daily-life-activities-and-social-participation-in-individuals-with-down-syndrome-a-systematic-review
#17
REVIEW
J P Hardee, L Fetters
BACKGROUND: Few systematic reviews have looked at the effect of exercise intervention on activities of daily living and social participation in individuals with Down syndrome (DS) across the lifespan. AIMS: To evaluate the research on the effectiveness of exercise intervention on daily life activities and participation in individuals with DS. METHODS AND PROCEDURES: Studies are from six electronic databases (CINHAL, Cochrane, ERIC, PEDro, PubMed, and PsycINFO) from 1987 to 2016...
March 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28117327/telomeres-in-icf-syndrome-cells-are-vulnerable-to-dna-damage-due-to-elevated-dna-rna-hybrids
#18
Shira Sagie, Shir Toubiana, Stella R Hartono, Hagar Katzir, Aya Tzur-Gilat, Shany Havazelet, Claire Francastel, Guillaume Velasco, Frédéric Chédin, Sara Selig
DNA:RNA hybrids, nucleic acid structures with diverse physiological functions, can disrupt genome integrity when dysregulated. Human telomeres were shown to form hybrids with the lncRNA TERRA, yet the formation and distribution of these hybrids among telomeres, their regulation and their cellular effects remain elusive. Here we predict and confirm in several human cell types that DNA:RNA hybrids form at many subtelomeric and telomeric regions. We demonstrate that ICF syndrome cells, which exhibit short telomeres and elevated TERRA levels, are enriched for hybrids at telomeric regions throughout the cell cycle...
January 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28005235/examination-of-the-applicability-of-the-disabilities-of-the-arm-shoulder-and-hand-dash-questionnaire-to-patients-with-hand-injuries-and-diseases-using-rasch-analysis
#19
Kathrin Braitmayer, Caroline Dereskewitz, Cornelia Oberhauser, Klaus-Dieter Rudolf, Michaela Coenen
BACKGROUND: The Disabilities of the Arm, Shoulder and Hand (DASH) Questionnaire is the most commonly applied patient-reported outcome measure used to assess disability and functioning in clinical research and practice for patients with injuries and diseases of the upper extremities. The objective of this study was to assess whether the DASH is a valid and reliable questionnaire to measure disability and functioning in patients with hand injuries and diseases using Rasch analysis. METHODS: We performed a psychometric study using data derived from two multicentre studies carried out to develop the International Classification of Functioning, Disability and Health (ICF) Core Sets for Hand Conditions...
June 2017: Patient
https://www.readbyqxmd.com/read/27891498/the-participation-patterns-of-youth-with-down-syndrome
#20
Megan MacDonald, Jennifer Leichtman, Phil Esposito, Nicole Cook, Dale Allen Ulrich
PURPOSE: The purpose of this paper was to investigate the participation patterns of children with Down syndrome (DS) using the construct of participation as defined by the International Classification of Functioning Disability and Health (ICF). METHODS: Sixty-two children with DS were recruited between the ages of 9 and 17 years. All participants were given an interview-administered version of the Children's Assessment of Participation and Enjoyment (CAPE) to measure participation (1)...
2016: Frontiers in Public Health
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