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icf syndrome

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https://www.readbyqxmd.com/read/29659838/comparative-methylome-analysis-of-icf-patients-identifies-heterochromatin-loci-that-require-zbtb24-cdca7-and-hells-for-their-methylated-state
#1
Guillaume Velasco, Giacomo Grillo, Nizar Touleimat, Laure Ferry, Ivana Ivkovic, Florence Ribierre, Jean-François Deleuze, Sophie Chantalat, Capucine Picard, Claire Francastel
Alterations of DNA methylation landscapes and machinery are a hallmark of many human diseases. A prominent case is the ICF syndrome, a rare autosomal recessive immunological/neurological disorder diagnosed by the loss of DNA methylation at (peri)centromeric repeats and its associated chromosomal instability. It is caused by mutations in the de novo DNA methyltransferase DNMT3B in about half of the patients (ICF1). In the remainder, the striking identification of mutations in factors devoid of DNA methyltransferase activity, ZBTB24 (ICF2), CDCA7 (ICF3) or HELLS (ICF4), raised key questions about common or distinguishing DNA methylation alterations downstream of these mutations and hence, about the functional link between the four factors...
April 12, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29578461/comparison-of-isometric-cervical-flexor-and-isometric-cervical-extensor-system-exercises-on-patients-with-neuromuscular-imbalance-and-cervical-crossed-syndrome-associated-forward-head-posture
#2
Jaejin Lee, Dohyeon Kim, Kyunghoon Yu, Youngki Cho, Joshua H You
BACKGROUND: Isometric cervical flexor system exercise (ICF) and isometric cervical extensor system exercise (ICE) are cervical stabilization techniques that have been used to restore cervical crossed syndrome (CCS)-associated forward head posture. However, the therapeutic effects and underlying motor control mechanisms remain elusive. PURPOSE: The purpose of present study was investigating the concurrent therapeutic effects of ICF and ICE on muscle size, muscle imbalance ratio, and muscle recruitment sequence using ultrasound imaging and electromyography...
2018: Bio-medical Materials and Engineering
https://www.readbyqxmd.com/read/29565108/white-book-on-physical-and-rehabilitation-medicine-prm-in-europe-chapter-7-the-clinical-field-of-competence-prm-in-practice
#3
(no author information available yet)
In the context of the White Book on Physical and Rehabilitation Medicine (PRM) in Europe this paper deals with the scope and competencies of PRM starting from its definition as the "medicine of functioning." PRM uses the rehabilitative health strategy as its core strategy together with the curative strategy. According to the complexity of disabling health conditions, PRM also refers to prevention and maintenance and provides information to the patients and other caregivers. The rehabilitation process according to the so-called rehabilitation cycle including an assessment and definition of the (individual) rehabilitation goals, assignment to the rehabilitation program evaluation of individual outcomes...
April 2018: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29558675/a-reappraisal-of-the-mechanisms-of-action-of-ketamine-to-treat-complex-regional-pain-syndrome-in-the-light-of-cortical-excitability-changes
#4
Marc Sorel, Naaman Zrek, Blanche Locko, Catherine Armessen, Samar S Ayache, Jean-Pascal Lefaucheur
OBJECTIVE: To evaluate the changes in glutamate/GABA balance of intracortical excitability produced by ketamine, delivered at subanaesthetic dose to treat patients with complex regional pain syndrome (CRPS). METHODS: In 19 patients with CRPS, we assessed the effect of a 5-day ketamine protocol on various clinical aspects, including pain and depression, and on cortical excitability parameters provided by transcranial magnetic stimulation testing. RESULTS: The rest motor threshold (RMT) and the amplitude of the motor evoked potentials at 120% of RMT were not modified after ketamine therapy...
March 8, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29523014/-medicolegal-assessment-for-chronic-musculoskeletal-pain-4th-update-of-the-german-guideline-for-medicolegal-assessment-of-persons-in-chronic-pain
#5
Marcus Schiltenwolf
Medicolegal assessments of claimants with chronic muskuloskeletal pain conditions are frequent. The first German guideline published in 2005 for the medicolegal assessment of claimants in chronic pain is now available in its 4th version (AWMF register number 094 - 003). It gives recommendations for the procedure and serves to ensure the quality of expert opinions when complaints about chronic pain are the leading symptom. In the current version, the indications for ordering medical assessments in pain syndromes have been reformulated, the assessment criteria have been adapted to ICF specifications, and an unequivocal distinction has been introduced between questions of state and causal assessment...
March 9, 2018: Zeitschrift Für Orthopädie und Unfallchirurgie
https://www.readbyqxmd.com/read/29486812/rheumatism-and-chronic-fatigue-the-two-facets-of-post-chikungunya-disease-the-telechik-cohort-study-on-reunion-island
#6
A Duvignaud, A Fianu, A Bertolotti, J Jaubert, A Michault, P Poubeau, A Fred, M Méchain, B-A Gaüzère, F Favier, D Malvy, P Gérardin
Prolonged fatigue is increasingly reported among chikungunya virus (CHIKV)-infected populations. We investigated the relationships between CHIKV exposure, long-lasting rheumatic musculoskeletal pain (LRMSP) and chronic fatigue. 1094 participants (512 CHIKV seropositive and 582 seronegative) of the TELECHIK population-based cohort were analysed considering the duration of the manifestations throughout an average 2-year follow-up. Weighted prevalence rates and prevalence ratios for LRMSP, idiopathic chronic fatigue (ICF), and chronic fatigue syndrome (CFS)-like illness, both latter syndromes adapted from Centers for Disease Control (CDC)-1994/Fukuda criteria, were compared...
February 28, 2018: Epidemiology and Infection
https://www.readbyqxmd.com/read/29370729/metaplasticity-a-promising-tool-to-disentangle-chronic-disorders-of-consciousness-differential-diagnosis
#7
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
#8
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 30, 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
#9
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
#10
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
#11
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
#12
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...
March 2018: 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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