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https://www.readbyqxmd.com/read/28183292/case-report-rapid-and-durable-response-to-pdgfr-targeted-therapy-in-a-child-with-refractory-multiple-infantile-myofibromatosis-and-a-heterozygous-germline-mutation-of-the-pdgfrb-gene
#1
Peter Mudry, Ondrej Slaby, Jakub Neradil, Jana Soukalova, Kristyna Melicharkova, Ondrej Rohleder, Marta Jezova, Anna Seehofnerova, Elleni Michu, Renata Veselska, Jaroslav Sterba
BACKGROUND: Infantile myofibromatosis belongs to a family of soft tissue tumors. The majority of these tumors have benign behavior but resistant and malignant courses are known, namely in tumors with visceral involvement. The standard of care is surgical resection. Observations suggest that low dose chemotherapy is beneficial. The treatment of resistant or relapsed patients with multifocal disease remains challenging. Patients that harbor an actionable mutation in the kinase domain are potential subjects for targeted tyrosine kinase inhibitor therapy...
February 10, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28181849/european-interprofessional-education-network-conference-nijmegen-the-netherlands-bridging-education-and-practice
#2
Nynke Scherpbier-de Haan, Albine Moser, Wietske Kuijer-Siebelink
No abstract text is available yet for this article.
March 2017: Journal of Interprofessional Care
https://www.readbyqxmd.com/read/28152174/depression-case-finding-in-individuals-with-dementia-a-systematic-review-and-meta-analysis
#3
Zahra S Goodarzi, Bria S Mele, Derek J Roberts, Jayna Holroyd-Leduc
OBJECTIVES: To compare the diagnostic accuracy of depression case finding tools with a criterion standard in the outpatient setting among adults with dementia. DESIGN: Systematic review and meta-analysis. SETTING: Studies of older outpatients with dementia. PARTICIPANTS: Elderly outpatients (clinic and long-term care) with dementia (N = 3,035). MEASUREMENTS: Prevalence of major depression and diagnostic accuracy measures including sensitivity, specificity, and likelihood ratios...
February 2, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28145846/quality-of-life-after-sequential-bilateral-cochlear-implantation
#4
Edmund A Nahm, Penny Liberatos, Qiuhu Shi, Erica Lai, Ana H Kim
Objective Assess psychometric properties of the Comprehensive Cochlear Implant Questionnaire (CCIQ) as a tool for assessing changes in health-related quality of life (HRQoL) after receiving a second cochlear implant (CI2). Study Design Prospective study. Setting Academic cochlear implant center. Subjects and Methods The CCIQ is a 29-item questionnaire assessing the physical and psychosocial benefits of a CI2 based on a 5-point Likert scale. The CCIQ was administered with the Nijmegen Cochlear Implant Questionnaire and the Short Form-12 Patient Questionnaire (SF-12) to patients with a CI2...
February 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28145830/corrigendum
#5
(no author information available yet)
Hinderink JB, Krabbe PFM, van den Broek P. Development and application of a health-related quality-of-life instrument for adults with cochlear implants: The Nijmegen Cochlear Implant Questionnaire. Otolaryngol Head Neck Surg. 2000;123:756-765. (Original DOI: 10.1067/mhn.2000.108203 ).
February 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28137495/the-impact-of-dysfunctional-breathing-on-the-assessment-of-asthma-control
#6
Sandra Veidal, Maria Jeppegaard, Asger Sverrild, Vibeke Backer, Celeste Porsbjerg
BACKGROUND AND OBJECTIVE: Dysfunctional breathing (DB) is a respiratory disorder, which involves a pattern of breathing too deeply, too superficially and/or too rapidly. In asthma patients, DB may lead to an overestimation of the severity of asthma symptoms, and hence potentially to overtreatment. However, it is not known to which degree DB may affect estimates of asthma control, in a specialist clinical setting. METHODS: The MAPOut-study examined all patients referred consecutively over a 12-months period for specialist assessment of asthma at the Respiratory Outpatient Clinic at Bispebjerg Hospital in Copenhagen...
February 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28134327/il-32-promoter-snp-rs4786370-predisposes-to-modified-lipoprotein-profiles-in-patients-with-rheumatoid-arthritis
#7
Michelle S M A Damen, Rabia Agca, Suzanne Holewijn, Jacqueline de Graaf, Jéssica C Dos Santos, Piet L van Riel, Jaap Fransen, Marieke J H Coenen, Mike T Nurmohamed, Mihai G Netea, Charles A Dinarello, Leo A B Joosten, Bas Heinhuis, Calin D Popa
Patients with rheumatoid arthritis (RA) are at higher risk of developing cardiovascular diseases (CVD). Interleukin (IL)-32 has previously been shown to be involved in the pathogenesis of RA and might be linked to the development of atherosclerosis. However, the exact mechanism linking IL-32 to CVD still needs to be elucidated. The influence of a functional genetic variant of IL-32 on lipid profiles and CVD risk was therefore studied in whole blood from individuals from the NBS cohort and RA patients from 2 independent cohorts...
January 30, 2017: Scientific Reports
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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 RT 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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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