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https://www.readbyqxmd.com/read/28713390/hematopoietic-stem-cell-transplantation-in-an-infant-with-immunodeficiency-centromeric-instability-and-facial-anomaly-syndrome
#1
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
#2
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
#3
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
#4
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
#5
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
#6
Marlinde L van Boogaard, Peter E Thijssen, Caner Aytekin, Francesco Licciardi, Ayça A Kıykım, Lucia Spossito, Virgil A S H Dalm, Gertjan J Driessen, Rogier Kersseboom, Femke de Vries, Monique M van Ostaijen-Ten Dam, Aydan Ikinciogullari, Figen Dogu, Matias Oleastro, Edgardo Bailardo, Lucia Daxinger, Ercan Nain, Safa Baris, Maarten J D van Tol, Corry Weemaes, Silvère M van der Maarel
Immunodeficiency, centromere 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, four subtypes of ICF syndrome have been identified to date: ICF1 (DNMT3B mutations), ICF2 (ZBTB24 mutations), ICF3 (CDCA7 mutations) and ICF4 (HELLS mutations). In this study we describe seven ICF1 patients and six novel missense mutations in DNMT3B, affecting highly conserved residues in the catalytic domain...
January 27, 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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/27734333/a-novel-mutation-in-a-critical-region-for-the-methyl-donor-binding-in-dnmt3b-causes-immunodeficiency-centromeric-instability-and-facial-anomalies-syndrome-icf
#11
Erez Rechavi, Atar Lev, Eran Eyal, Ortal Barel, Nitzan Kol, Sarit Farage Barhom, Ben Pode-Shakked, Yair Anikster, Raz Somech, Amos J Simon
PURPOSE: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is an extremely rare autosomal recessive disease. The immune phenotype is characterized by hypogammaglobulinemia in the presence of B cells. T cell lymphopenia also develops in some patients. We sought to further investigate the immune defect in an ICF patient with a novel missense mutation in DNMT3B and a severe phenotype. METHODS: Patient lymphocytes were examined for subset counts, immunoglobulin levels, T and B cell de novo production (via excision circles) and receptor repertoire diversity...
November 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27604394/vesicourethral-reflux-induced-renal-failure-in-a-patient-with-icf-syndrome-due-to-a-novel-dnmt3b-mutation
#12
Seyhan Kutluğ, Gönül Ogur, Aysegül Yilmaz, Peter E Thijssen, Ummet Abur, Alisan Yildiran
ICF syndrome is a primary immunodeficiency disease characterized by hypo- or agammaglobulinemia, centromeric instability mainly on chromosomes 1, 9, and 16 and facial anomalies. ICF syndrome presents with frequent respiratory tract infections in infancy. A 20-month-old female patient was referred to our clinic due to frequent lower respiratory tract infections. ICF syndrome was considered because of comorbidity of hypogammaglobulinemia, facial anomalies, and neuromotor growth retardation. Metaphase chromosome analysis revealed centromeric instability on chromosomes 1, 9, and 16 and through Sanger a previously unreported homozygous missense mutation (c...
September 8, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27467759/influence-of-repressive-histone-and-dna-methylation-upon-d4z4-transcription-in-non-myogenic-cells
#13
Sunny Das, Brian P Chadwick
We looked at a disease-associated macrosatellite array D4Z4 and focused on epigenetic factors influencing its chromatin state outside of the disease-context. We used the HCT116 cell line that contains the non-canonical polyadenylation (poly-A) signal required to stabilize somatic transcripts of the human double homeobox gene DUX4, encoded from D4Z4. In HCT116, D4Z4 is packaged into constitutive heterochromatin, characterized by DNA methylation and histone H3 tri-methylation at lysine 9 (H3K9me3), resulting in low basal levels of D4Z4-derived transcripts...
2016: PloS One
https://www.readbyqxmd.com/read/27466202/converging-disease-genes-in-icf-syndrome-zbtb24-controls-expression-of-cdca7-in-mammals
#14
Haoyu Wu, Peter E Thijssen, Eleonora de Klerk, Kelly K D Vonk, Jun Wang, Bianca den Hamer, Caner Aytekin, Silvère M van der Maarel, Lucia Daxinger
For genetically heterogeneous diseases a better understanding of how the underlying gene defects are functionally interconnected will be important for dissecting disease etiology. The Immunodeficiency, Centromeric instability, Facial anomalies (ICF) syndrome is a chromatin disorder characterized by mutations in DNMT3B, ZBTB24, CDCA7 or HELLS Here, we generated a Zbtb24 BTB domain deletion mouse and found that loss of functional Zbtb24 leads to early embryonic lethality. Transcriptome analysis identified Cdca7 as the top down-regulated gene in Zbtb24 homozygous mutant mESCs, which can be restored by ectopic ZBTB24 expression...
September 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27445748/a-framework-for-understanding-the-relationship-between-descending-pain-modulation-motor-corticospinal-and-neuroplasticity-regulation-systems-in-chronic-myofascial-pain
#15
Leonardo M Botelho, Leon Morales-Quezada, Joanna R Rozisky, Aline P Brietzke, Iraci L S Torres, Alicia Deitos, Felipe Fregni, Wolnei Caumo
Myofascial pain syndrome (MPS) is a leading cause of chronic musculoskeletal pain. However, its neurobiological mechanisms are not entirely elucidated. Given the complex interaction between the networks involved in pain process, our approach, to providing insights into the neural mechanisms of pain, was to investigate the relationship between neurophysiological, neurochemical and clinical outcomes such as corticospinal excitability. Recent evidence has demonstrated that three neural systems are affected in chronic pain: (i) motor corticospinal system; (ii) internal descending pain modulation system; and (iii) the system regulating neuroplasticity...
2016: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/27198591/a-new-framing-approach-in-guideline-development-to-manage-different-sources-of-knowledge
#16
Sue Lukersmith, Katherine Hopman, Kristina Vine, Lee Krahe, Alexander McColl
RATIONALE: Contemporary guideline methodology struggles to consider context and information from different sources of knowledge besides quantitative research. Return to work programmes involve multiple components and stakeholders. If the guideline is to be relevant and practical for a complex intervention such as return to work, it is essential to use broad sources of knowledge. AIMS AND OBJECTIVE: This paper reports on a new method in guideline development to manage different sources of knowledge...
February 2017: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/27153398/mutations-in-dnmt3b-modify-epigenetic-repression-of-the-d4z4-repeat-and-the-penetrance-of-facioscapulohumeral-dystrophy
#17
Marlinde L van den Boogaard, Richard J L F Lemmers, Judit Balog, Mariëlle Wohlgemuth, Mari Auranen, Satomi Mitsuhashi, Patrick J van der Vliet, Kirsten R Straasheijm, Rob F P van den Akker, Marjolein Kriek, Marlies E Y Laurense-Bik, Vered Raz, Monique M van Ostaijen-Ten Dam, Kerstin B M Hansson, Elly L van der Kooi, Sari Kiuru-Enari, Bjarne Udd, Maarten J D van Tol, Ichizo Nishino, Rabi Tawil, Stephen J Tapscott, Baziel G M van Engelen, Silvère M van der Maarel
Facioscapulohumeral dystrophy (FSHD) is associated with somatic chromatin relaxation of the D4Z4 repeat array and derepression of the D4Z4-encoded DUX4 retrogene coding for a germline transcription factor. Somatic DUX4 derepression is caused either by a 1-10 unit repeat-array contraction (FSHD1) or by mutations in SMCHD1, which encodes a chromatin repressor that binds to D4Z4 (FSHD2). Here, we show that heterozygous mutations in DNA methyltransferase 3B (DNMT3B) are a likely cause of D4Z4 derepression associated with low levels of DUX4 expression from the D4Z4 repeat and increased penetrance of FSHD...
May 5, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27098601/downregulation-of-zbtb24-hampers-the-g0-1-to-s-phase-cell-cycle-transition-via-upregulating-the-expression-of-irf-4-in-human-b-cells
#18
J Liang, R Yan, G Chen, J Feng, W-W Wu, W Ren, C Zhu, Y Zhao, X-M Gao, J Wang
It has been recently identified that loss-of-function mutations in the uncharacterized gene ZBTB24 (zinc finger and BTB domain-containing 24) cause ICF2 (immunodeficiency, centromeric instability and facial anomalies syndrome 2) with immunological characteristics of greatly reduced serum antibodies and circulating memory B cells. ZBTB24 belongs to the large ZBTB family of transcriptional repressors with members like B-cell lymphoma 6 (BCL-6; ZBTB27) playing critical roles in B-cell functions. Given the genotype-phenotype correlation analyses in ICF2 patients and the high expression of ZBTB24 in human B cells, we, in the present study, investigated the function of ZBTB24 in human B-cell line Raji cells...
July 2016: Genes and Immunity
https://www.readbyqxmd.com/read/26993463/structural-basis-for-recognition-of-histone-h3k36me3-nucleosome-by-human-de-novo-dna-methyltransferases-3a-and-3b
#19
Grégoire Rondelet, Thomas Dal Maso, Luc Willems, Johan Wouters
DNA methylation is an important epigenetic modification involved in chromatin organization and gene expression. The function of DNA methylation depends on cell context and is correlated with histone modification patterns. In particular, trimethylation of Lys36 on histone H3 tail (H3K36me3) is associated with DNA methylation and elongation phase of transcription. PWWP domains of the de novo DNA methyltransferases DNMT3A and DNMT3B read this epigenetic mark to guide DNA methylation. Here we report the first crystal structure of the DNMT3B PWWP domain-H3K36me3 complex...
June 2016: Journal of Structural Biology
https://www.readbyqxmd.com/read/26950098/the-efficacy-of-guided-self-instruction-for-patients-with-idiopathic-chronic-fatigue-a-randomized-controlled-trial
#20
RANDOMIZED CONTROLLED TRIAL
A Janse, J F Wiborg, G Bleijenberg, M Tummers, H Knoop
OBJECTIVE: To determine the efficacy of a cognitive-behavioral intervention for patients meeting U.S. Centers for Disease Control and Prevention (CDC) criteria for idiopathic chronic fatigue (ICF). ICF is thought to be a less severe disorder than chronic fatigue syndrome (CFS). The intervention consisted of a booklet with self-instructions combined with e-mail contact with a therapist. METHOD: Randomized controlled trial conducted at an outpatient facility. All patients suffered from severe and persistent fatigue with moderate impairment levels or fewer than 4 additional symptoms...
May 2016: Journal of Consulting and Clinical Psychology
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