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https://www.readbyqxmd.com/read/29777571/optimization-of-pre-analytical-heat-treatment-for-inhibitor-detection-in-haemophilia-a
#1
P Batty, D P Hart, S Platton
INTRODUCTION: Factor VIII (FVIII) antibody formation is the greatest clinical and laboratory challenge within the haemophilia centre. The Nijmegen-Bethesda assay (NBA) is the gold standard for inhibitor quantification, but affected by pre-analytical variables including a patient's FVIII activity (FVIII:C). Pre-analytical heat treatment (PHT) provides a methodology for inhibitor testing when measurable FVIII:C is present. METHODS: We evaluated the effect of different PHT conditions (time/temperature) on FVIII:C as well as on potency of inhibitory activity in samples containing FVIII:C (endogenous pooled plasma and exogenous recombinant FVIII (rFL-FVIII) concentrate) or FVIII inhibitor...
May 18, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29769345/the-major-tegument-protein-of-bovine-herpesvirus-1-vp8-interacts-with-dna-damage-response-proteins-and-induces-apoptosis
#2
Sharmin Afroz, Ravendra Garg, Michel Fodje, Sylvia van Drunen Littel-van den Hurk
VP8, the UL47 gene product in bovine herpes virus-1 (BoHV-1), is a major tegument protein, essential for virus replication in vivo The major DNA damage response protein, ataxia telangiectasia mutated (ATM), phosphorylates Nijmegen breakage syndrome (NBS1) and structural maintenance of chromosome-1 (SMC1) proteins during the DNA damage response. VP8 was found to interact with ATM and NBS1 during transfection and BoHV-1 infection. However, VP8 did not interfere with phosphorylation of ATM in transfected or BoHV-1-infected cells...
May 16, 2018: Journal of Virology
https://www.readbyqxmd.com/read/29769026/cost-effectiveness-of-a-multicomponent-primary-care-program-targeting-frail-elderly-people
#3
Franca G H Ruikes, Eddy M Adang, Willem J J Assendelft, Henk J Schers, Raymond T C M Koopmans, Sytse U Zuidema
BACKGROUND: Over the last 20 years, integrated care programs for frail elderly people aimed to prevent functional dependence and reduce hospitalization and institutionalization. However, results have been inconsistent and merely modest. To date, evidence on the cost-effectiveness of these programs is scarce. We evaluated the cost-effectiveness of the CareWell program, a multicomponent integrated care program for frail elderly people. METHODS: Economic evaluation from a healthcare perspective embedded in a cluster controlled trial of 12 months in 12 general practices in (the region of) Nijmegen...
May 16, 2018: BMC Family Practice
https://www.readbyqxmd.com/read/29757042/comparison-of-napsi-and-n-nail-for-evaluation-of-fingernail-psoriasis-in-patients-with-moderate-to-severe-plaque-psoriasis-treated-using-ustekinumab
#4
Bo Ri Kim, Seungkeol Yang, Chong Won Choi, Sang Woong Youn
OBJECTIVE: We sought to determine which psoriatic nail features more effectively respond to ustekinumab treatment and evaluate which between the Nail Psoriasis Severity Index (NAPSI) and the Nijmegen-Nail psoriasis Activity Index tooL (N-NAIL) better reflects the clinical improvement of nail psoriasis. METHODS: Thirty patients with moderate-to-severe plaque psoriasis were prospectively enrolled; the patients were treated with ustekinumab for 52 weeks. A single investigator evaluated the condition using the NAPSI and the N-NAIL with serial fingernail photographs...
May 14, 2018: Journal of Dermatological Treatment
https://www.readbyqxmd.com/read/29754157/-patient-satisfaction-with-procedural-sedation-in-oral-and-maxillofacial-surgery
#5
J T Deferm, M Burger, T Prudon, M van Bergen, M Vaneker, W A Borstlap
Fear of treatment by an oral and maxillofacial (OMF) surgeon or the dentist is a widespread and deep-rooted phenomenon. A patient can be taught to cope with dental phobia by means of psychological, cognitive behavioural therapy, but in cases of invasive oral treatment, such therapy may be insufficiently effective. For these invasive procedures, sedation serves as an alternative treatment option. The department of Oral and Maxillofacial Surgery at the Radboud University Medical Centre in Nijmegen, the Netherlands, offers the possibility to utilise intravenous sedation with midazolam (Dormicum®) and remifentanil (Ultiva®)...
May 2018: Nederlands Tijdschrift Voor Tandheelkunde
https://www.readbyqxmd.com/read/29728794/correction-to-circulating-t-cells-of-patients-with-nijmegen-breakage-syndrome-show-signs-of-senescence
#6
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
The original version of the article, "Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence" incorrectly listed the affiliation of the fourth author, Iwona Solarska. The correct affiliation is "Molecular Biology Laboratory, Institute of Hematology and Transfusion Medicine.
April 23, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29725521/quality-of-life-and-speech-perception-in-two-late-deafened-adults-with-cochlear-implants
#7
Marwa F Abdrabbou, Denise A Tucker, Mary V Compton, Lyn Mankoff
The aim was to demonstrate the need for a quality of life assessment in biopsychosocial aural rehabilitation (AR) practices with late deafened adults (LDAs) with cochlear implants (CIs). We present a case report of a medical records review of two LDAs enrolled in a biopsychosocial group AR program. A speech perception test Contrasts for Auditory and Speech Training (CAST) and a quality of life (QoL) assessment the Nijmegen Cochlear Implant Questionnaire (NCIQ) were given prior to AR therapy. CAST scores indicated both patients had excellent basic speech perception...
March 6, 2018: Audiology Research
https://www.readbyqxmd.com/read/29724890/progression-of-white-matter-hyperintensities-preceded-by-heterogeneous-decline-of-microstructural-integrity
#8
Esther M C van Leijsen, Mayra I Bergkamp, Ingeborg W M van Uden, Mohsen Ghafoorian, Helena M van der Holst, David G Norris, Bram Platel, Anil M Tuladhar, Frank-Erik de Leeuw
BACKGROUND AND PURPOSE: White matter hyperintensities (WMH) are frequently seen on neuroimaging of elderly and are associated with cognitive decline and the development of dementia. Yet, the temporal dynamics of conversion of normal-appearing white matter (NAWM) into WMH remains unknown. We examined whether and when progression of WMH was preceded by changes in fluid-attenuated inversion recovery and diffusion tensor imaging values, thereby taking into account differences between participants with mild versus severe baseline WMH...
May 3, 2018: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29719382/can-cochlear-implantation-improve-neurocognition-in-the-aging-population
#9
Christiane Völter, Lisa Götze, Stefan Dazert, Michael Falkenstein, Jan Peter Thomas
Introduction: The relationship between cognition and the ability to hear is well known. Due to changes in demographics, the number of people with sensorineural hearing loss and cognitive impairment is increasing. The aim of this study was to identify the impact of hearing rehabilitation via cochlear implantation on cognitive decline among the aging population. Patients and methods: This prospective study included 60 subjects aged between 50 and 84 years (mean 65...
2018: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/29709199/the-mre11-rad50-nbs1-complex-conducts-the-orchestration-of-damage-signaling-and-outcomes-to-stress-in-dna-replication-and-repair
#10
Aleem Syed, John A Tainer
Genomic instability in disease and its fidelity in health depend on the DNA damage response (DDR), regulated in part from the complex of meiotic recombination 11 homolog 1 (MRE11), ATP-binding cassette-ATPase (RAD50), and phosphopeptide-binding Nijmegen breakage syndrome protein 1 (NBS1). The MRE11-RAD50-NBS1 (MRN) complex forms a multifunctional DDR machine. Within its network assemblies, MRN is the core conductor for the initial and sustained responses to DNA double-strand breaks, stalled replication forks, dysfunctional telomeres, and viral DNA infection...
April 25, 2018: Annual Review of Biochemistry
https://www.readbyqxmd.com/read/29706645/identification-of-variants-in-pleiotropic-genes-causing-isolated-premature-ovarian-insufficiency-implications-for-medical-practice
#11
Elena J Tucker, Sonia R Grover, Gorjana Robevska, Jocelyn van den Bergen, Chloe Hanna, Andrew H Sinclair
Next-generation sequencing (NGS) is increasingly being used in a clinical setting for the molecular diagnosis of patients with heterogeneous disorders, such as premature ovarian insufficiency (POI). We performed NGS of ~1000 candidate genes in four unrelated patients with POI. We discovered the genetic cause of "isolated" POI in two cases, both of which had causative variants in surprising genes. In the first case, a homozygous nonsense variant in NBN was causative. Recessive function-altering NBN variants typically cause Nijmegen breakage syndrome characterized by microcephaly, cancer predisposition, and immunodeficiency, none of which are evident in the patient...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29696806/association-of-17q24-2-q24-3-deletions-with-recognizable-phenotype-and-short-telomeres
#12
Miroslava Hancarova, Marcela Malikova, Michaela Kotrova, Jana Drabova, Marie Trkova, Zdenek Sedlacek
Microdeletions of 17q24.2-q24.3 have been described in several patients with developmental and speech delay, growth retardation, and other features. The relatively large size and limited overlap of the deletions complicate the genotype-phenotype correlation. We identified a girl with intellectual disability, growth retardation, dysmorphic features, and a de novo 2.8 Mb long deletion of 17q24.2-q24.3. Her phenotype was strikingly similar to one previously described boy with Dubowitz syndrome (MIM 223370) and a de novo 3...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29686104/interdependent-and-separable-functions-of-caenorhabditis-elegans-mrn-c-complex-members-couple-formation-and-repair-of-meiotic-dsbs
#13
Chloe Girard, Baptiste Roelens, Karl A Zawadzki, Anne M Villeneuve
Faithful inheritance of genetic information through sexual reproduction relies on the formation of crossovers between homologous chromosomes during meiosis, which, in turn, relies on the formation and repair of numerous double-strand breaks (DSBs). As DSBs pose a potential threat to the genome, mechanisms that ensure timely and error-free DSB repair are crucial for successful meiosis. Here, we identify NBS-1, the Caenorhabditis elegans ortholog of the NBS1 (mutated in Nijmegen Breakage Syndrome) subunit of the conserved MRE11-RAD50-NBS1/Xrs2 (MRN) complex, as a key mediator of DSB repair via homologous recombination (HR) during meiosis...
April 23, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29683995/cochlear-implantation-in-adults-with-asymmetric-hearing-loss-speech-recognition-in-quiet-and-in-noise-and-health-related-quality-of-life
#14
Douglas P Sladen, Matthew L Carlson, Brittany P Dowling, Amy P Olund, Melissa D DeJong, Alyce Breneman, Sara Hollander, Charles W Beatty, Brian A Neff, Colin L Driscoll
OBJECTIVE: To examine the possible speech recognition and health related quality of life (HRQoL) benefits of cochlear implantation among adults with asymmetric sensorineural hearing loss. STUDY DESIGN: Retrospective chart review, single-subject design. METHODS: A total of 45 adult cochlear implant recipients with asymmetric sensorineural hearing loss where performance for the best-aided condition exceeded 60% correct open set sentence recognition in quiet, and the implanted ear met traditional candidacy criteria...
March 26, 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29624536/working-memory-training-following-neonatal-critical-illness-a-randomized-controlled-trial
#15
Raisa M Schiller, Marlous J Madderom, Joost van Rosmalen, Arno F J van Heijst, Ivo de Blaauw, Elisabeth Utens, André B Rietman, Frank Verhulst, Dick Tibboel, Tonya White, Hanneke IJsselstijn
OBJECTIVES: To test the immediate and long-term effectiveness of Cogmed Working Memory Training following extracorporeal membrane oxygenation and/or congenital diaphragmatic hernia. DESIGN: A nationwide randomized controlled trial assessing neuropsychologic outcome immediately and 1 year post Cogmed Working Memory Training, conducted between October 2014 and June 2017. Researchers involved in the follow-up assessments were blinded to group allocation. SETTING: Erasmus MC-Sophia Children's Hospital, Rotterdam, and Radboud University Medical Center, Nijmegen, the Netherlands...
April 5, 2018: Critical Care Medicine
https://www.readbyqxmd.com/read/29618328/breast-density-and-breast-cancer-specific-survival-by-detection-mode
#16
Daniëlle van der Waal, André L M Verbeek, Mireille J M Broeders
BACKGROUND: Breast density is known to affect breast cancer risk and screening sensitivity, but it may also be associated with breast cancer survival. The interpretation of results from previous studies on breast density and survival is complicated by the association between detection mode and survival. Here, we studied the effect of breast density on breast cancer-specific survival for different detection modes (screen-detected, interval ≤ 24 or > 24 months, non-participant)...
April 5, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29540613/plasma-a%C3%AE-amyloid-%C3%AE-levels-and-severity-and-progression-of-small-vessel-disease
#17
Esther M C van Leijsen, H Bea Kuiperij, Iris Kersten, Mayra I Bergkamp, Ingeborg W M van Uden, Hugo Vanderstichele, Erik Stoops, Jurgen A H R Claassen, Ewoud J van Dijk, Frank-Erik de Leeuw, Marcel M Verbeek
BACKGROUND AND PURPOSE: Cerebral small vessel disease (SVD) is a frequent pathology in aging and contributor to the development of dementia. Plasma Aβ (amyloid β) levels may be useful as early biomarker, but the role of plasma Aβ in SVD remains to be elucidated. We investigated the association of plasma Aβ levels with severity and progression of SVD markers. METHODS: We studied 487 participants from the RUN DMC study (Radboud University Nijmegen Diffusion Tensor and Magnetic Resonance Imaging Cohort) of whom 258 participants underwent 3 MRI assessments during 9 years...
April 2018: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29540235/development-and-evaluation-of-a-passive-trunk-support-system-for-duchenne-muscular-dystrophy-patients
#18
Mohammad Nauzef Mahmood, Laura H C Peeters, Micha Paalman, Gijsbertus J Verkerke, Idsart Kingma, Jaap H van Dieën
BACKGROUND: Patients with Duchenne muscular dystrophy gradually lose the ability to use different muscles of their body. Consequently, they lose the ability to stabilize their trunk against gravity. This hinders them to effectively perform different daily activities. In this paper, we describe the design, realization and evaluation of a trunk orthosis for these patients that should allow them to move their trunk and maintain stability. METHOD: This study aimed to primarily assess the effectiveness of the trunk support system in terms of unloading of trunk muscles, so only healthy participants were recruited for this phase of the study...
March 14, 2018: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/29469616/prehospital-echocardiography-during-resuscitation-impacts-treatment-in-a-physician-staffed-helicopter-emergency-medical-service-an-observational-study
#19
Rein Ketelaars, Christian Beekers, Geert-Jan Van Geffen, Gert Jan Scheffer, Nico Hoogerwerf
BACKGROUND: Patients in cardiac arrest must receive algorithm-based management such as basic life support and advanced (cardiac) life support. International guidelines dictate diagnosing and treating any factor that may have caused the arrest or may be complicating the resuscitation. Ultrasound may be of potential value in this process and can be used in a prehospital setting. The objective is to evaluate the use of prehospital ultrasound during traumatic and non-traumatic CPR and determine its impact on prehospital treatment decisions in a Dutch helicopter emergency medical service (HEMS)...
February 22, 2018: Prehospital Emergency Care
https://www.readbyqxmd.com/read/29461541/-the-use-of-scientific-journals-and-professional-periodicals-by-dutch-dental-students
#20
P Panahi Moghaddam, W G Brands, H S Brand
In the present study, the extent to which dental students in Amsterdam, Groningen and Nijmegen consult scientific journals and professional periodicals was explored by means of a digital questionnaire. 333 dental students (20% response rate) participated in this study, 69% of whom had experience in conducting scientific research. 65% of the students had a subscription to a dental journal. Of the Dutch-language dental journals, the 'Nederlands Tijdschrift voor Tandheelkunde' [Netherlands Journal for Dentistry] and the 'Nederlands Tandartsenblad' [Dutch Dentists' Journal] are frequently consulted journals...
February 2018: Nederlands Tijdschrift Voor Tandheelkunde
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