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https://www.readbyqxmd.com/read/28107384/an-approach-to-elucidate-nbs1-function-in-dna-repair-using-frequent-nonsynonymous-polymorphism-in-wild-medaka-oryzias-latipes-populations
#1
Kento Igarashi, Junya Kobayashi, Takafumi Katsumura, Yusuke Urushihara, Kyohei Hida, Tomomi Watanabe-Asaka, Hiroki Oota, Shoji Oda, Hiroshi Mitani
Nbs1 is one of the genes responsible for Nijmegen breakage syndrome, which is marked with high radiosensitivity. In human NBS1 (hNBS1), Q185E polymorphism is known as the factor to cancer risks, although its DSB repair defect has not been addressed. Here we investigated the genetic variations in medaka (Oryzias latipes) wild populations, and found 40 nonsynonymous single nucleotide polymorphisms (SNPs) in medaka nbs1 (olnbs1) gene within 5 inbred strains. A mutation to histidine in Q170 residue in olNbs1, which corresponds to Q185 residue of hNBS1, was widely distributed in the closed colonies derived from the eastern Korean population of medaka...
2017: PloS One
https://www.readbyqxmd.com/read/28097370/osseointegrated-prosthesis-for-patients-with-an-amputation-multidisciplinary-team-approach-in-the-netherlands
#2
J P M Frölke, R A Leijendekkers, H van de Meent
This article reviews the development of multidisciplinary osseointegration treatment in the Netherlands since its start in 2009. People experiencing limitations due to their socket prosthesis after a leg amputation present to the Radboud University Nijmegen Medical Centre for an osseointegration implant or "bone-anchored" prosthesis. In this article we share our experience with the first 100 patients regarding referral pattern, selection criteria, available osseointegration systems, preoperative planning, surgical treatment, the rehabilitation protocol, outcome measurement, revision surgery, and future developments...
January 17, 2017: Der Unfallchirurg
https://www.readbyqxmd.com/read/28063379/oxidative-stress-mitochondrial-abnormalities-and-antioxidant-defense-in-ataxia-telangiectasia-bloom-syndrome-and-nijmegen-breakage-syndrome
#3
REVIEW
Mateusz Maciejczyk, Bozena Mikoluc, Barbara Pietrucha, Edyta Heropolitanska-Pliszka, Malgorzata Pac, Radosław Motkowski, Halina Car
Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some of these functional abnormalities can be explained by aberrant DNA damage response and chromosomal instability. It has been suggested that one possible common denominator of these conditions could be chronic oxidative stress caused by endogenous ROS overproduction and impairment of mitochondrial homeostasis...
December 28, 2016: Redox Biology
https://www.readbyqxmd.com/read/28052340/developmental-pathways-to-preference-and-popularity-in-middle-childhood
#4
Yvonne H M van den Berg, Marike H F Deutz, Sanny Smeekens, Antonius H N Cillessen
This study examined the associations between children's early life experiences with parents, ego resiliency and ego undercontrol, and peer group social status in a longitudinal, multimethod study from infancy to middle childhood. Participants were 129 children (52% boys) who were followed from 15 months of age to 9 years and their primary caregivers from the Nijmegen Longitudinal Study on Infant and Child Development. The measurements included observations of parent-child interaction, teacher ratings of ego resiliency and ego undercontrol, and peer-reported social status...
January 4, 2017: Child Development
https://www.readbyqxmd.com/read/28050653/successfully-sustaining-sex-and-gender-issues-in-undergraduate-medical-education-a-case-study
#5
Francisca van der Meulen, Cornelia Fluit, Mieke Albers, Roland Laan, Antoine Lagro-Janssen
Although several projects have addressed the importance of gender health issues in medical education, the sustainability of change efforts in medical education has rarely been addressed. Understanding the possible facilitators or barriers to sustainability may help to develop future interventions that are effective in maintaining gender health issues as a topic in medical curricula. The aim of this study is to provide a longitudinal evaluation of changes regarding gender health issues that occurred in the past decade and the factors that influenced this process...
January 3, 2017: Advances in Health Sciences Education: Theory and Practice
https://www.readbyqxmd.com/read/28024229/use-of-social-network-analysis-in-maternity-care-to-identify-the-profession-most-suited-for-case-manager-role
#6
REVIEW
Carola J M Groenen, Noortje T L van Duijnhoven, Marjan J Faber, Jan Koetsenruijter, Jan A M Kremer, Frank P H A Vandenbussche
OBJECTIVE: To improve Dutch maternity care, professionals start working in interdisciplinary patient-centred networks, which includes the patients as a member. The introduction of the case manager is expected to work positively on both the individual and the network level. However, case management is new in Dutch maternity care. The present study aims to define the profession that would be most suitable to fulfil the role of case manager. DESIGN: The maternal care network in the Nijmegen region was determined by using Social Network Analysis (SNA)...
December 12, 2016: Midwifery
https://www.readbyqxmd.com/read/28009475/reactivation-of-latent-hpv-infections-after-renal-transplantation
#7
F Hinten, L B Hilbrands, K A P Meeuwis, J IntHout, W G V Quint, A J Hoitsma, L F A G Massuger, W J G Melchers, J A de Hullu
Female renal transplant recipients (RTRs) have an increased risk for developing human papillomavirus (HPV) related (pre)malignant lesions of the genital tract. This study aims to assess the genital prevalence of HPV before and after renal transplantation (RT). In female patients who were counseled for renal transplantation at the Radboud university medical center Nijmegen, the Netherlands, gynecological examination was performed at first visit, and 1 and 2 years later. HPV self-sampling and questionnaires on sexual behavior were performed every 3 months...
December 23, 2016: American Journal of Transplantation
https://www.readbyqxmd.com/read/28000062/circulating-t-cells-of-patients-with-nijmegen-breakage-syndrome-show-signs-of-senescence
#8
Ruud W J Meijers, Katarzyna Dzierzanowska-Fangrat, Magdalena Zborowska, Iwona Solarska, Dennis Tielemans, Bob A C van Turnhout, Gertjan Driessen, Mirjam van der Burg, Jacques J M van Dongen, Krystyna H Chrzanowska, Anton W Langerak
PURPOSE: The Nijmegen breakage syndrome (NBS) is an inherited genetic disorder characterized by a typical facial appearance, microcephaly, growth retardation, immunodeficiency, and a strong predisposition to malignancies, especially of lymphoid origin. NBS patients have a mutation in the NBN gene which involves the repair of DNA double-strand breaks (DSBs). Here we studied the peripheral T cell compartment of NBS patients with a focus on immunological senescence. METHODS: The absolute numbers and frequencies of the different T cell subsets were determined in NBS patients from young age till adulthood and compared to age-matched healthy individuals (HI)...
December 21, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27966054/lifestyle-risk-factors-for-breast-cancer-in-brca1-2-mutation-carriers-around-childbearing-age
#9
A van Erkelens, L Derks, A S Sie, L Egbers, G Woldringh, J B Prins, P Manders, N Hoogerbrugge
BRCA1/2-mutation carriers are at high risk of breast cancer (BC) and ovarian cancer. Physical inactivity, overweight (body mass index ≥25, BMI), smoking, and alcohol consumption are jointly responsible for about 1 in 4 postmenopausal BC cases in the general population. Limited evidence suggests physical activity also increases BC risk in BRCA1/2-mutation carriers. Women who have children often reduce physical activity and have weight gain, which increases BC risk. We assessed aforementioned lifestyle factors in a cohort of 268 BRCA1/2-mutation carriers around childbearing age (born between 1968 and 1983, median age 33 years, range 21-44)...
December 13, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27936167/the-slavic-nbn-founder-mutation-a-role-for-reproductive-fitness
#10
Eva Seemanova, Raymonda Varon, Jan Vejvalka, Petr Jarolim, Pavel Seeman, Krystyna H Chrzanowska, Martin Digweed, Igor Resnick, Ivo Kremensky, Kathrin Saar, Katrin Hoffmann, Véronique Dutrannoy, Mohsen Karbasiyan, Mehdi Ghani, Ivo Barić, Mustafa Tekin, Peter Kovacs, Michael Krawczak, André Reis, Karl Sperling, Michael Nothnagel
The vast majority of patients with Nijmegen Breakage Syndrome (NBS) are of Slavic origin and carry a deleterious deletion (c.657del5; rs587776650) in the NBN gene on chromosome 8q21. This mutation is essentially confined to Slavic populations and may thus be considered a Slavic founder mutation. Notably, not a single parenthood of a homozygous c.657del5 carrier has been reported to date, while heterozygous carriers do reproduce but have an increased cancer risk. These observations seem to conflict with the considerable carrier frequency of c...
2016: PloS One
https://www.readbyqxmd.com/read/27918759/the-functional-effect-of-rare-variants-in-complement-genes-on-c3b-degradation-in-patients-with-age-related-macular-degeneration
#11
Maartje J Geerlings, Mariann Kremlitzka, Bjorn Bakker, Sara C Nilsson, Nicole T Saksens, Yara T Lechanteur, Marc Pauper, Jordi Corominas, Sascha Fauser, Carel B Hoyng, Anna M Blom, Eiko K de Jong, Anneke I den Hollander
Importance: In age-related macular degeneration (AMD), rare variants in the complement system have been described, but their functional consequences remain largely unexplored. Objectives: To identify new rare variants in complement genes and determine the functional effect of identified variants on complement levels and complement regulation in serum samples from carriers and noncarriers. Design, Setting, and Participants: This study evaluated affected (n = 114) and unaffected (n = 60) members of 22 families with AMD and a case-control cohort consisting of 1831 unrelated patients with AMD and 1367 control individuals from the European Genetic Database from March 29, 2006, to April 26, 2013, in Nijmegen, the Netherlands, and Cologne, Germany...
January 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/27847152/endurance-exercise-induced-changes-in-bnp-concentrations-in-cardiovascular-patients-versus-healthy-controls
#12
Vincent L Aengevaeren, Maria T E Hopman, Dick H J Thijssen, Roland R van Kimmenade, Menko-Jan de Boer, Thijs M H Eijsvogels
BACKGROUND: Healthy athletes demonstrated increased B-type natriuretic peptide (BNP) concentrations following exercise, but it is unknown whether these responses are exaggerated in individuals with cardiovascular risk factors (CVRF) or disease (CVD). We compared exercise-induced increases in BNP between healthy controls (CON) and individuals with CVRF or CVD. Furthermore, we aimed to identify predictors for BNP responses. METHODS: Serum BNP concentrations were measured in 191 participants (60±12yrs) of the Nijmegen Marches before (baseline) and immediately after 4 consecutive days of walking exercise (30-50km/day)...
January 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27844240/identification-of-a-rare-germline-nbn-gene-mutation-by-whole-exome-sequencing-in-a-lung-cancer-survivor-from-a-large-family-with-various-types-of-cancer
#13
Makia J Marafie, Mohammed Dashti, Fahd Al-Mulla
Nijmegen breakage syndrome is an autosomal recessive disorder caused by biallelic mutation in NBN gene. It is characterized by microcephaly, growth retardation, immuno-deficiency and cancer predisposition. The monoallelic carriers of NBN gene are also reported to be at increased risk of developing various types of malignancy. We have investigated an individual with lung cancer from an extended family segregating different types of hereditary cancer over several generations, including lung, breast, ovarian, colon, prostate and renal cancers...
November 14, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27806365/rapid-positive-influence-of-cochlear-implantation-on-the-quality-of-life-in-adults-70-years-and-older
#14
Heidi Olze, Steffen Knopke, Stefan Gräbel, Agnieszka J Szczepek
The deteriorating ability to communicate has a negative impact on quality of life in the aging population. Cochlear implantation is increasingly used to treat hearing impairment and to restore the ability to communicate. Here, in a sample of 79 adults (70 years and older), we explored the effect of cochlear implantation on the health-related quality of life via the Nijmegen Cochlear Implant Questionnaire, auditory performance for speech recognition comparing scores on the Freiburg Monosyllabic Test and Oldenburg Inventory and tinnitus-related distress using the German version of the Tinnitus Questionnaire...
November 3, 2016: Audiology & Neuro-otology
https://www.readbyqxmd.com/read/27798884/high-expression-of-mre11-rad50-nbs1-is-associated-with-poor-prognosis-and-chemoresistance-in-gastric-cancer
#15
Bolag Altan, Takehiko Yokobori, Munenori Ide, Tuya Bai, Toru Yanoma, Akiharu Kimura, Norimichi Kogure, Masaki Suzuki, Pinjie Bao, Erito Mochiki, Kyoichi Ogata, Tadashi Handa, Kyoichi Kaira, Masahiko Nishiyama, Takayuki Asao, Tetsunari Oyama, Hiroyuki Kuwano
BACKGROUND: The MRN complex of meiotic recombination 11 (MRE11), DNA repair protein Rad50 (RAD50) and Nijmegen breakage syndrome 1 (NBS1) proteins coordinate the detection and repair of DNA double-strand breaks (DSBs). DNA DSB repair-dependent chemoresistance likely has an effect on the treatment of human cancer. MATERIALS AND METHODS: We investigated the expression of MRN complex in human gastric cancer (GC) tissues using immunohistochemistry and analyzed its clinical significance and prognostic relevance...
2016: Anticancer Research
https://www.readbyqxmd.com/read/27785413/t-lymphoblastic-leukemia-lymphoma-in-macedonian-patients-with-nijmegen-breakage-syndrome
#16
S A Kocheva, K Martinova, Z Antevska-Trajkova, B Coneska-Jovanova, A Eftimov, A J Dimovski
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive chromosomal instability disorder characterized by microcephaly, immunodeficiency, radiosensitivity and a very high predisposition to malignancy. The gene responsible for the disease, NBS1, is located on chromosome 8q21 and encodes a protein called nibrin. After identification of the gene, a truncating 5 bp deletion, 657-661delACAAA, was identified as the disease-causing mutation in patients with the NBS. In this report, we describe two patients with NBS and T-lymphoblastic leukemia/lymphoma in a Macedonian family...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27734959/respiratory-constraints-during-activities-in-daily-life-and-the-impact-on-health-status-in-patients-with-early-stage-copd-a-cross-sectional-study
#17
Hanneke Ac van Helvoort, Laura M Willems, Pn Richard Dekhuijzen, Hieronymus Wh van Hees, Yvonne F Heijdra
In patients with chronic obstructive pulmonary disease (COPD), exercise capacity is reduced, resulting over time in physical inactivity and worsened health status. It is unknown whether ventilatory constraints occur during activities of daily life (ADL) in early stages of COPD. The aim of this study was to assess respiratory mechanics during ADL and to study its consequences on dyspnoea, physical activity and health status in early-stage COPD compared with healthy controls. In this cross-sectional study, 39 early-stage COPD patients (mean FEV1 88±s...
October 13, 2016: NPJ Primary Care Respiratory Medicine
https://www.readbyqxmd.com/read/27730647/early-outcomes-after-cochlear-implantation-for-adults-and-children-with-unilateral-hearing-loss
#18
Douglas P Sladen, Matthew L Carlson, Brittany P Dowling, Amy P Olund, Kathryn Teece, Melissa D DeJong, Alyce Breneman, Ann Peterson, Charles W Beatty, Brian A Neff, Colin L Driscoll
OBJECTIVES/HYPOTHESIS: This study was designed to examine speech recognition and self-perceived health-related quality of life (HRQoL) received from cochlear implantation among a cohort of adults and children with a short duration of unilateral hearing loss greater than 6 months, but less than 2 years. STUDY DESIGN: Single-subject repeated measures prospective study. METHODS: This study assessed changes in speech recognition and self-perceived quality of life by prospectively analyzing data at the preoperative evaluation and at the 3-month and 6-month postactivation intervals...
October 12, 2016: Laryngoscope
https://www.readbyqxmd.com/read/27692418/craniofacial-characteristics-of-children-with-mild-hypodontia
#19
Strahinja Vucic, Brunilda Dhamo, Mette A R Kuijpers, Vincent W V Jaddoe, Albert Hofman, Eppo B Wolvius, Edwin M Ongkosuwito
INTRODUCTION: The aim of our study was to evaluate the craniofacial characteristics of children with mild hypodontia using conventional and principal component (PC) analysis. METHODS: We used radiographic images of 124 children (8-12 years old) with up to 4 missing teeth (55 boys, 69 girls) and of 676 reference children (365 boys, 311 girls) from the Rotterdam Generation R Study and the Nijmegen Growth Study in The Netherlands. Fifteen cephalometric measurements of children with hypodontia were compared with those of the reference children...
October 2016: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/27664415/abnormal-vocal-cord-movement-in-patients-with-and-without-airway-obstruction-and-asthma-symptoms
#20
Kathy Low, Laurence Ruane, Nizam Uddin, Paul Finlay, Kenneth K Lau, Kais Hamza, Peter W Holmes, Garun Hamilton, Philip G Bardin
BACKGROUND: Abnormal vocal cord movements can cause laryngeal extrathoracic airway obstruction (often called vocal cord dysfunction - VCD) leading to asthma-like symptoms. These aberrant movements are characteristically present during inspiration and termed paradoxical vocal cord movement (PVCM). We have reported PVCM in up to 40% of severe asthmatics but it is not known if PVCM is detectable in all patients with asthma-like symptoms and if the condition is more often associated with abnormal lung function...
September 24, 2016: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
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