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icf syndrome

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...
October 12, 2016: Journal of Clinical Immunology
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
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
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...
July 27, 2016: Human Molecular Genetics
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
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...
May 19, 2016: Journal of Evaluation in Clinical Practice
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
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
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
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
Sat Byul Park, Kyu-Nam Kim, Eunju Sung, Suk Young Lee, Ho Cheol Shin
Chronic fatigue (CF) is a common reason for consulting a physician due to affecting quality of life, but only a few effective treatments are available. The aim of this study was to examine the effectiveness of subcutaneous injection of the human placental extract (HPE) on medically indescribable cases of CF and safety in a randomized, double-blind, placebo-controlled clinical trial. A total of 78 subjects with CF were randomly assigned to either a HPE group or a placebo group. Subjects in the HPE group were treated with HPE three times a week subcutaneously for 6 weeks, whereas those in the placebo group with normal saline...
May 1, 2016: Biological & Pharmaceutical Bulletin
Delphine Sterlin, Guillaume Velasco, Despina Moshous, Fabien Touzot, Nizar Mahlaoui, Alain Fischer, Felipe Suarez, Claire Francastel, Capucine Picard
PURPOSE: Autosomal recessive deficiencies of DNMT3B or ZBTB24 account for two-thirds of cases of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). This primary immunodeficiency (PID) is characterized mainly by an antibody deficiency, facial abnormalities and centromeric instability. We analyzed the national cohort of patients with ICF syndrome with the aim of providing a more detailed description of the phenotype and management of patients with ICF syndrome...
February 2016: Journal of Clinical Immunology
Jung Hwa Lee, Eun Yeon Joo, Dae Won Seo, Seung Bong Hong
BACKGROUND AND PURPOSE: Numerous transcranial magnetic stimulation (TMS) studies have defined the characteristic features of TMS in epilepsy. TME parameters were expected to classify the epilepsy syndrome or drug responses. However, the results such as cortical silent periods (CSP) are variable according to conditions of patients. Here, we investigate whether specific TMS parameters have localizing or lateralizing values in drug-naïve epilepsy patients. METHODS: We recruited 148 consecutive untreated patients with epilepsy (idiopathic generalized epilepsy (IGE) 38, focal epilepsy (FE) 110, mean age 31...
December 2015: Journal of Epilepsy Research
Venusia Covelli, Alberto Raggi, Paolo Meucci, Chiara Paganelli, Matilde Leonardi
Life expectancy of people with Down's syndrome (DS) has increased considerably, now exceeding 60 years. People with DS start to get old around the age of 45. By referring to the WHO's International Classification of Functioning, Disability and Health (ICF) biopsychosocial perspective, this study aimed to present an up-to-date review of the past 14 years of literature concerning the ageing of people with DS. PUBMED, PsycInfo and the Social Sciences Citation Index were searched for studies published between 2000 and 2014...
March 2016: International Journal of Rehabilitation Research. Revue Internationale de Recherches de Réadaptation
Lisa M Russo, Nourtan F Abdeltawab, Alison D O'Brien, Malak Kotb, Angela R Melton-Celsa
BACKGROUND: Shiga toxin (Stx)-producing E. coli (STEC) are responsible for foodborne outbreaks that can result in severe human disease. During an outbreak, differential disease outcomes are observed after infection with the same STEC strain. One question of particular interest is why some infected people resolve infection after hemorrhagic colitis whereas others progress to the hemolytic uremic syndrome (HUS). Host age and infection dose have been implicated; however, these parameters do not appear to fully account for all of the observed variation in disease severity...
2015: BMC Genomics
Federica Pinna, Andrea Fiorillo, Massimo Tusconi, Beatrice Guiso, Bernardo Carpiniello
BACKGROUND: The aim of the study was to evaluate validity of the Italian Mini-ICF-APP (Mini-ICF Rating for Limitations of Activities and Participation in Psychological Disorders) in schizophrenia and related disorders. METHODS: 74 outpatients affected by schizophrenia or schizoaffective disorders attending a University-based community mental health centre were recruited to the study. All participants underwent comprehensive evaluation using standardized instruments to assess clinical, neurocognitive and functional status...
2015: International Journal of Mental Health Systems
Jan Krejsek, Martina Koláčková, Irena Lindrová, Radovan Slezák, Ctirad Andrýs
The presence of a broad spectrum of autoantibodies in Sjögren's syndrome (SjS) patients is the result of abnormal B-cell regulation that can be at least partially explained by abnormal BAFF/BAFFR regulation. The objective of this study was to determine both membrane and intracellular expression of BAFF/BAFFR in monocytes and B-cells in peripheral blood of 19 primary Sjögren's syndrome patients and 20 healthy controls using flow cytometry. We also measured sBAFF in serum. Compared to healthy controls, both surface and intracellular expression of BAFF was significantly increased in monocytes and B-cells of SjS patients...
2015: Acta Medica (Hradec Králové)
B Arnold, H-R Casser, K Klimczyk, J Lutz, T Brinkschmidt, I Gralow, D Irnich, U Kaiser, B Nagel, M Schiltenwolf, M Pfingsten, R Sabatowski, W Söllner
Multimodal pain treatment programs are widely accepted as the medical treatment standard in the management of patients with chronic pain syndromes. The concepts and treatment strategies are based on the biopsychosocial model of pain and programs for early restoration of function. Although this concept is primarily implemented in the curative field, i.e. in hospitals for the treatment of patients with chronic pain diseases, modified programs based on the International Classification of Functioning (ICF) can now also be found in rehabilitation clinics...
December 2015: Der Schmerz
Leonie van Egeraat, Jill Hanass-Hancock, Hellen Myezwa
BACKGROUND: Healthcare workers have been at the forefront of dealing with the impact of HIV and AIDS at all stages of the pandemic. This brings new challenges to include disability into HIV care. However, the implications for healthcare workers in an already fragile health system along with HIV-related disabilities in persons living with HIV are little understood. This study examined the healthcare workers' perspective on disability in HIV care. METHOD: This article describes a qualitative study using in-depth interviews with 10 healthcare workers in a semi-urban hospital setting in KwaZulu-Natal, South Africa...
2015: African Journal of AIDS Research: AJAR
Mevhibe İrem Yıldız, Çağrı Temuçin, Aygün Ertuğrul
OBJECTIVE: Transcranial magnetic stimulation (TMS) studies show cortical inhibition (CI) abnormalities in patients with schizophrenia. However, the relationship between the changes in CI and the changes in psychopathology and cognition caused by antipsychotic treatment is not known. This is an 8 week follow up study which aims to evaluate the relationship of the change in the symptoms and cognitive functions with the change in the CI of the patients, who are switched to new  atypical antipsychotic treatment, and to compare the TMS measures of patients with those of controls...
2015: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
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