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https://www.readbyqxmd.com/read/27847152/endurance-exercise-induced-changes-in-bnp-concentrations-in-cardiovascular-patients-versus-healthy-controls
#1
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)...
November 8, 2016: 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
#2
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
#3
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
#4
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...
October 2016: Anticancer Research
https://www.readbyqxmd.com/read/27785413/t-lymphoblastic-leukemia-lymphoma-in-macedonian-patients-with-nijmegen-breakage-syndrome
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/27662794/oral-health-related-quality-of-life-and-associated-factors-in-a-care-dependent-and-a-care-independent-older-population
#10
Dominique Niesten, Dick Witter, Ewald Bronkhorst, Nico Creugers
OBJECTIVES: To examine relationships between oral health (OH) factors and general health (GH) factors (including physical, mental, and social health domains), and oral health-related quality of life (OHRQoL) in a care-independent and a care-dependent older population. METHODS: Care-independent participants (n=109) were recruited from the Nijmegen dental school; care-dependent participants (n=126) from residential aged care facilities. Data collected included: OHRQoL (Geriatric Oral Health Assessment Index (GOHAI)), age, gender, socioeconomic status, number of teeth and occluding pairs, presence of carious teeth, presence of removable dental prostheses, clinically assessed treatment need (CTN), self-reported GH, and, only for care-dependent participants: care-dependency level and health domain variables: physical, mental (SF-12: Physical and Mental Component Summary scores), and social (ENRICHD social support index)...
September 20, 2016: Journal of Dentistry
https://www.readbyqxmd.com/read/27642667/two-common-second-causes-of-dizziness-in-patients-with-m%C3%A3-ni%C3%A3-re-s-disease
#11
Babette F van Esch, Peter Paul G van Benthem, Hester J van der Zaag-Loonen, Tjasse D Bruintjes
OBJECTIVE: There are no epidemiological studies quantifying the prevalence of second causes of dizziness in Ménière's disease (MD). Therefore, we aimed to quantify which dizziness-inducing causes are prevalent alongside MD. Moreover, we analyzed which second cause of dizziness was more common in a specific age group and if age was a risk factor. STUDY DESIGN: Retrospective cohort study. SETTING: Tertiary referral center. METHODS: Data were retrospectively obtained from all MD patients who visited our clinic between January 2000 and December 2013...
December 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27632020/breast-cancer-screening-effect-across-breast-density-strata-a-case-control-study
#12
Daniëlle van der Waal, Theodora M Ripping, André L M Verbeek, Mireille J M Broeders
Breast cancer screening is known to reduce breast cancer mortality. A high breast density may affect this reduction. We assessed the effect of screening on breast cancer mortality in women with dense and fatty breasts separately. Analyses were performed within the Nijmegen (Dutch) screening programme (1975-2008), which invites women (aged 50-74 years) biennially. Performance measures were determined. Furthermore, a case-control study was performed for women having dense and women having fatty breasts. Breast density was assessed visually with a dichotomized Wolfe scale...
January 1, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27628197/duhamel-versus-transanal-endorectal-pull-through-terpt-for-the-surgical-treatment-of-hirschsprung-s-disease
#13
E Arts, S M B I Botden, M Lacher, P Sloots, M P Stanton, I Sugarman, T Wester, I de Blaauw
For the surgical treatment of Hirschsprung's disease, several surgical techniques are used to resect the distal aganglionic colon. Two frequently used techniques are the Duhamel procedure and the transanal endorectal pull-through procedure. During the '8th Pediatric Colorectal Course' in Nijmegen, November 2015, a workshop was organized to share experiences of both techniques by several experts in the field and to discuss (long term) outcomes. Specifically, the objective of the meeting was to discuss the main controversies in relation to the technical execution of both procedures in order to make an initial assessment of the limitations of available evidence for clinical decision-making and to formulate a set of preliminary recommendations for current clinical care and future research...
October 2016: Techniques in Coloproctology
https://www.readbyqxmd.com/read/27619828/improving-care-for-victims-a-study-protocol-of-the-evaluation-of-a-centre-for-sexual-and-family-violence
#14
E Zijlstra, S LoFoWong, G Hutschemaekers, A Lagro-Janssen
INTRODUCTION: Worldwide, sexual and family violence are highly prevalent problems. Victims of sexual and family violence often do not seek formal help in the acute phase. When they do seek help, they encounter a system of scattered care. For this reason, a centre for sexual and family violence was launched in Nijmegen, the Netherlands. The centre provides multidisciplinary care for victims of acute sexual and/or family violence. With the study described in this study protocol, we want to evaluate the implementation process and the reach of the Center for Sexual and Family Violence Nijmegen (CSFVN)...
September 12, 2016: BMJ Open
https://www.readbyqxmd.com/read/27619827/multicentre-open-label-randomised-parallel-group-superiority-study-to-compare-the-efficacy-of-octreotide-therapy-40%C3%A2-mg-monthly-versus-standard-of-care-in-patients-with-refractory-anaemia-due-to-gastrointestinal-bleeding-from-small-bowel-angiodysplasias-a-protocol
#15
K V Grooteman, E J M van Geenen, J P H Drenth
INTRODUCTION: Gastrointestinal angiodysplasias are an important cause of difficult-to-manage bleeding, especially in older patients. Endoscopic coagulation of angiodysplasias is the mainstay of treatment, but may be difficult for small bowel angiodysplasias because of the inability to reach them for endoscopic intervention. Some patients are red blood cell (RBC) transfusion dependent due to frequent rebleeding despite endoscopic treatment. In small cohort studies, octreotide appears to decrease the number of bleeding episodes in patients with RBC transfusion dependency due to gastrointestinal angiodysplasias...
September 12, 2016: BMJ Open
https://www.readbyqxmd.com/read/27609548/predictors-of-health-related-quality-of-life-in-adult-cochlear-implant-recipients-in-south-africa
#16
Talita le Roux, Bart Vinck, Iain Butler, Liebie Louw, Leone Nauta, Dani Schlesinger, De Wet Swanepoel
OBJECTIVE: To identify and describe predictors of health-related quality of life (HRQoL) outcomes for adult cochlear implant (CI) recipients in South Africa. DESIGN: A retrospective study of adult CI recipients was conducted and cross-sectional HRQoL outcome data were added at the time of data collection, using the Nijmegen Cochlear Implant Questionnaire (NCIQ). Twenty-two potential predictive factors were identified from the retrospective dataset, including demographic, hearing loss, CI and risk-related factors...
September 9, 2016: International Journal of Audiology
https://www.readbyqxmd.com/read/27595167/intrusions-and-provoked-and-spontaneous-confabulations-on-memory-tests-in-korsakoff-s-syndrome
#17
Yvonne C M Rensen, Joukje M Oosterman, Serge J W Walvoort, Paul A T M Eling, Roy P C Kessels
INTRODUCTION: Intrusions on verbal memory tests have been used as an index for clinical confabulation. Severe memory impairments in combination with executive dysfunction have been suggested to be the underlying mechanism of confabulation, but to date, this relation is unclear. The aim of this study was (a) to examine the relation between (different types of) intrusions and confabulations in a large sample of confabulating patients with Korsakoff's syndrome (KS) and (b) to investigate whether different measures of executive functioning and memory performance are related to provoked and spontaneous confabulation...
September 5, 2016: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/27581828/dysfunctional-breathing-a-review-of-the-literature-and-proposal-for-classification
#18
REVIEW
Richard Boulding, Rebecca Stacey, Rob Niven, Stephen J Fowler
Dysfunctional breathing is a term describing breathing disorders where chronic changes in breathing pattern result in dyspnoea and other symptoms in the absence or in excess of the magnitude of physiological respiratory or cardiac disease. We reviewed the literature and propose a classification system for the common dysfunctional breathing patterns described. The literature was searched using the terms: dysfunctional breathing, hyperventilation, Nijmegen questionnaire and thoraco-abdominal asynchrony. We have summarised the presentation, assessment and treatment of dysfunctional breathing, and propose that the following system be used for classification...
September 2016: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/27550299/an-easy-prediction-rule-for-diffuse-cutaneous-systemic-sclerosis-using-only-the-timing-and-type-of-first-symptoms-and-auto-antibodies-derivation-and-validation
#19
Wieneke M T van den Hombergh, Patricia E Carreira, Hanneke K A Knaapen-Hans, Frank H J van den Hoogen, Jaap Fransen, Madelon C Vonk
OBJECTIVE: DcSSc is associated with high morbidity related to widespread skin disease and poor prognosis due to earlier and more severe organ involvement. The objective of this study is to derive and validate a simple prediction rule for identifying patients at the time of initial diagnosis of SSc who are likely to progress to dcSSc. METHODS: The Nijmegen cohort consists of 619 SSc patients. Logistic regression was used for predictive modelling. A prediction rule was created by rounding regression coefficients...
November 2016: Rheumatology
https://www.readbyqxmd.com/read/27545893/chromosomal-instability-and-molecular-defects-in-induced-pluripotent-stem-cells-from-nijmegen-breakage-syndrome-patients
#20
Tomer Halevy, Shira Akov, Martina Bohndorf, Barbara Mlody, James Adjaye, Nissim Benvenisty, Michal Goldberg
Nijmegen breakage syndrome (NBS) results from the absence of the NBS1 protein, responsible for detection of DNA double-strand breaks (DSBs). NBS is characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. Here, we show successful reprogramming of NBS fibroblasts into induced pluripotent stem cells (NBS-iPSCs). Our data suggest a strong selection for karyotypically normal fibroblasts to go through the reprogramming process. NBS-iPSCs then acquire numerous chromosomal aberrations and show a delayed response to DSB induction...
August 30, 2016: Cell Reports
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